Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.
A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)
A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases.
The largest portion of the CEREBRAL CORTEX in which the NEURONS are arranged in six layers in the mammalian brain: molecular, external granular, external pyramidal, internal granular, internal pyramidal and multiform layers.
A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
A mass of histologically normal tissue present in an abnormal location.
Mice which carry mutant genes for neurologic defects or abnormalities.
Formation of NEURONS which involves the differentiation and division of STEM CELLS in which one or both of the daughter cells become neurons.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Malformations of organs or body parts during development in utero.
Surface ligands that mediate cell-to-cell adhesion and function in the assembly and interconnection of the vertebrate nervous system. These molecules promote cell adhesion via a homophilic mechanism. These are not to be confused with NEURAL CELL ADHESION MOLECULES, now known to be expressed in a variety of tissues and cell types in addition to nervous tissue.
The anterior subdivision of the embryonic PROSENCEPHALON or the corresponding part of the adult prosencephalon that includes the cerebrum and associated structures.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The aglycone of CYCASIN. It acts as a potent carcinogen and neurotoxin and inhibits hepatic DNA, RNA, and protein synthesis.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.
The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.
'Nerve tissue proteins' are specialized proteins found within the nervous system's biological tissue, including neurofilaments, neuronal cytoskeletal proteins, and neural cell adhesion molecules, which facilitate structural support, intracellular communication, and synaptic connectivity essential for proper neurological function.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal BRONCHIOLES with a consequent reduction of PULMONARY ALVEOLI. This anomaly is classified into three types by the cyst size.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
A technique in which electric pulses of intensity in kilovolts per centimeter and of microsecond-to-millisecond duration cause a temporary loss of the semipermeability of CELL MEMBRANES, thus leading to ion leakage, escape of metabolites, and increased uptake by cells of drugs, molecular probes, and DNA.
Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.
Self-renewing cells that generate the main phenotypes of the nervous system in both the embryo and adult. Neural stem cells are precursors to both NEURONS and NEUROGLIA.
Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
The three membranes that cover the BRAIN and the SPINAL CORD. They are the dura mater, the arachnoid, and the pia mater.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
An infant during the first month after birth.
Refers to animals in the period of time just after birth.
A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
Four CSF-filled (see CEREBROSPINAL FLUID) cavities within the cerebral hemispheres (LATERAL VENTRICLES), in the midline (THIRD VENTRICLE) and within the PONS and MEDULLA OBLONGATA (FOURTH VENTRICLE).
Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.
The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.
The non-neuronal cells of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu, participate in the BLOOD-BRAIN BARRIER and BLOOD-RETINAL BARRIER, form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.
A characteristic symptom complex.
Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
Formation of differentiated cells and complicated tissue organization to provide specialized functions.
Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).
A nucleoside that substitutes for thymidine in DNA and thus acts as an antimetabolite. It causes breaks in chromosomes and has been proposed as an antiviral and antineoplastic agent. It has been given orphan drug status for use in the treatment of primary brain tumors.
The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.
Non-invasive methods of visualizing the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities.
Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN.
A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Area of the OCCIPITAL LOBE concerned with the processing of visual information relayed via VISUAL PATHWAYS.
Semidomesticated variety of European polecat much used for hunting RODENTS and/or RABBITS and as a laboratory animal. It is in the subfamily Mustelinae, family MUSTELIDAE.
A family of transcription factors that control EMBRYONIC DEVELOPMENT within a variety of cell lineages. They are characterized by a highly conserved paired DNA-binding domain that was first identified in DROSOPHILA segmentation genes.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Any member of the group of ENDOPEPTIDASES containing at the active site a serine residue involved in catalysis.
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES.
A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)
Paired bodies containing mostly GRAY MATTER and forming part of the lateral wall of the THIRD VENTRICLE of the brain.
A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.
Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
Most generally any NEURONS which are not motor or sensory. Interneurons may also refer to neurons whose AXONS remain within a particular brain region in contrast to projection neurons, which have axons projecting to other brain regions.
Congenital structural abnormalities and deformities of the musculoskeletal system.
Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE.
Extensions of the nerve cell body. They are short and branched and receive stimuli from other NEURONS.
Veins draining the cerebrum.
Area of the parietal lobe concerned with receiving sensations such as movement, pain, pressure, position, temperature, touch, and vibration. It lies posterior to the central sulcus.
Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.
A method of hemostasis utilizing various agents such as Gelfoam, silastic, metal, glass, or plastic pellets, autologous clot, fat, and muscle as emboli. It has been used in the treatment of spinal cord and INTRACRANIAL ARTERIOVENOUS MALFORMATIONS, renal arteriovenous fistulas, gastrointestinal bleeding, epistaxis, hypersplenism, certain highly vascular tumors, traumatic rupture of blood vessels, and control of operative hemorrhage.
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
Morphological and physiological development of EMBRYOS or FETUSES.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Congenital structural abnormalities of the DIGESTIVE SYSTEM.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
An agent that causes the production of physical defects in the developing embryo.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
The capacity of the NERVOUS SYSTEM to change its reactivity as the result of successive activations.
Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
The number of CELLS of a specific kind, usually measured per unit volume or area of sample.
The most common inhibitory neurotransmitter in the central nervous system.
The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH.
The development of anatomical structures to create the form of a single- or multi-cell organism. Morphogenesis provides form changes of a part, parts, or the whole organism.
The developmental history of specific differentiated cell types as traced back to the original STEM CELLS in the embryo.
The process of generating three-dimensional images by electronic, photographic, or other methods. For example, three-dimensional images can be generated by assembling multiple tomographic images with the aid of a computer, while photographic 3-D images (HOLOGRAPHY) can be made by exposing film to the interference pattern created when two laser light sources shine on an object.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Neural tracts connecting one part of the nervous system with another.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
The region of the cerebral cortex that receives the auditory radiation from the MEDIAL GENICULATE BODY.
Mice bearing mutant genes which are phenotypically expressed in the animals.
A meshlike structure composed of interconnecting nerve cells that are separated at the synaptic junction or joined to one another by cytoplasmic processes. In invertebrates, for example, the nerve net allows nerve impulses to spread over a wide area of the net because synapses can pass information in any direction.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.
'Eye proteins' are structural or functional proteins, such as crystallins, opsins, and collagens, located in various parts of the eye, including the cornea, lens, retina, and aqueous humor, that contribute to maintaining transparency, refractive power, phototransduction, and overall integrity of the visual system.
Theoretical representations that simulate the behavior or activity of the neurological system, processes or phenomena; includes the use of mathematical equations, computers, and other electronic equipment.
A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.
The rostral part of the frontal lobe, bounded by the inferior precentral fissure in humans, which receives projection fibers from the MEDIODORSAL NUCLEUS OF THE THALAMUS. The prefrontal cortex receives afferent fibers from numerous structures of the DIENCEPHALON; MESENCEPHALON; and LIMBIC SYSTEM as well as cortical afferents of visual, auditory, and somatic origin.
Elements of limited time intervals, contributing to particular results or situations.
A microtubule subunit protein found in large quantities in mammalian brain. It has also been isolated from SPERM FLAGELLUM; CILIA; and other sources. Structurally, the protein is a dimer with a molecular weight of approximately 120,000 and a sedimentation coefficient of 5.8S. It binds to COLCHICINE; VINCRISTINE; and VINBLASTINE.
Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radiation.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
High molecular weight proteins found in the MICROTUBULES of the cytoskeletal system. Under certain conditions they are required for TUBULIN assembly into the microtubules and stabilize the assembled microtubules.
A tissue adhesive that is applied as a monomer to moist tissue and polymerizes to form a bond. It is slowly biodegradable and used in all kinds of surgery, including dental.
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.
A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system.
Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.
Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
The infratentorial compartment that contains the CEREBELLUM and BRAIN STEM. It is formed by the posterior third of the superior surface of the body of the sphenoid (SPHENOID BONE), by the occipital, the petrous, and mastoid portions of the TEMPORAL BONE, and the posterior inferior angle of the PARIETAL BONE.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)
A developmental anomaly in which a mass of nonfunctioning lung tissue lacks normal connection with the tracheobroncheal tree and receives an anomalous blood supply originating from the descending thoracic or abdominal aorta. The mass may be extralobar, i.e., completely separated from normally connected lung, or intralobar, i.e., partly surrounded by normal lung.
A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator.
Projection neurons in the CEREBRAL CORTEX and the HIPPOCAMPUS. Pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their cortical region.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the BLOOD-BRAIN BARRIER. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with MICROGLIA) respond to injury.
The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.
A technique for maintenance or growth of animal organs in vitro. It refers to three-dimensional cultures of undisaggregated tissue retaining some or all of the histological features of the tissue in vivo. (Freshney, Culture of Animal Cells, 3d ed, p1)
A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)
Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
The large hole at the base of the skull through which the SPINAL CORD passes.
An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE.
The terminal segment of the LARGE INTESTINE, beginning from the ampulla of the RECTUM and ending at the anus.
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Congenital fissure of the soft and/or hard palate, due to faulty fusion.
Treatment of varicose veins, hemorrhoids, gastric and esophageal varices, and peptic ulcer hemorrhage by injection or infusion of chemical agents which cause localized thrombosis and eventual fibrosis and obliteration of the vessels.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)
A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM.
A class of ionotropic glutamate receptors characterized by affinity for N-methyl-D-aspartate. NMDA receptors have an allosteric binding site for glycine which must be occupied for the channel to open efficiently and a site within the channel itself to which magnesium ions bind in a voltage-dependent manner. The positive voltage dependence of channel conductance and the high permeability of the conducting channel to calcium ions (as well as to monovalent cations) are important in excitotoxicity and neuronal plasticity.
Congenital absence of or defects in structures of the mouth.
Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; SPONTANEOUS ABORTION; INDUCED ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO.
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000)
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.
A radiological stereotactic technique developed for cutting or destroying tissue by high doses of radiation in place of surgical incisions. It was originally developed for neurosurgery on structures in the brain and its use gradually spread to radiation surgery on extracranial structures as well. The usual rigid needles or probes of stereotactic surgery are replaced with beams of ionizing radiation directed toward a target so as to achieve local tissue destruction.
Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
Chemical agents injected into blood vessels and lymphatic sinuses to shrink or cause localized THROMBOSIS; FIBROSIS, and obliteration of the vessels. This treatment is applied in a number of conditions such as VARICOSE VEINS; HEMORRHOIDS; GASTRIC VARICES; ESOPHAGEAL VARICES; PEPTIC ULCER HEMORRHAGE.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The outermost of the three MENINGES, a fibrous membrane of connective tissue that covers the brain and the spinal cord.
Specialized junctions at which a neuron communicates with a target cell. At classical synapses, a neuron's presynaptic terminal releases a chemical transmitter stored in synaptic vesicles which diffuses across a narrow synaptic cleft and activates receptors on the postsynaptic membrane of the target cell. The target may be a dendrite, cell body, or axon of another neuron, or a specialized region of a muscle or secretory cell. Neurons may also communicate via direct electrical coupling with ELECTRICAL SYNAPSES. Several other non-synaptic chemical or electric signal transmitting processes occur via extracellular mediated interactions.
The spinal or vertebral column.
Congenital absence of or defects in structures of the jaw.
Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy.
Non-invasive method of vascular imaging and determination of internal anatomy without injection of contrast media or radiation exposure. The technique is used especially in CEREBRAL ANGIOGRAPHY as well as for studies of other vascular structures.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
The duct which coveys URINE from the pelvis of the KIDNEY through the URETERS, BLADDER, and URETHRA.
A method of delineating blood vessels by subtracting a tissue background image from an image of tissue plus intravascular contrast material that attenuates the X-ray photons. The background image is determined from a digitized image taken a few moments before injection of the contrast material. The resulting angiogram is a high-contrast image of the vessel. This subtraction technique allows extraction of a high-intensity signal from the superimposed background information. The image is thus the result of the differential absorption of X-rays by different tissues.
A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.
Mandibulofacial dysostosis with congenital eyelid dermoids.
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
The external and internal organs related to reproduction.
'Polyvinyls' is a term that refers to a group of polymers synthesized from vinyl chloride, including polyvinyl chloride (PVC) and polyvinylidene chloride (PVDC), which are widely used in various medical applications such as manufacturing of medical devices, tubing, packaging materials, and pharmaceutical containers due to their chemical resistance, durability, and versatility.
Cyanoacrylate tissue adhesive also used to occlude blood vessels supplying neoplastic or other diseased tissue.
Abortion performed because of possible fetal defects.
A dilated cavity extended caudally from the hindgut. In adult birds, reptiles, amphibians, and many fishes but few mammals, cloaca is a common chamber into which the digestive, urinary and reproductive tracts discharge their contents. In most mammals, cloaca gives rise to LARGE INTESTINE; URINARY BLADDER; and GENITALIA.
A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34)
An electrophysiologic technique for studying cells, cell membranes, and occasionally isolated organelles. All patch-clamp methods rely on a very high-resistance seal between a micropipette and a membrane; the seal is usually attained by gentle suction. The four most common variants include on-cell patch, inside-out patch, outside-out patch, and whole-cell clamp. Patch-clamp methods are commonly used to voltage clamp, that is control the voltage across the membrane and measure current flow, but current-clamp methods, in which the current is controlled and the voltage is measured, are also used.
Radiography of blood vessels after injection of a contrast medium.
A blue-red, extremely painful vascular neoplasm involving a glomeriform arteriovenous anastomosis (glomus body), which may be found anywhere in the skin, most often in the distal portion of the fingers and toes, especially beneath the nail. It is composed of specialized pericytes (sometimes termed glomus cells), usually in single encapsulated nodular masses which may be several millimeters in diameter (From Stedman, 27th ed). CHEMODECTOMA, a tumor of NEURAL CREST origin, is also sometimes called a glomus tumor.
Congenital absence of the eye or eyes.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The vessels carrying blood away from the capillary beds.
Abnormally small jaw.
The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS).
A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle.
The magnitude of INBREEDING in humans.
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
Surgery performed on the nervous system or its parts.
A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
The veins that return the oxygenated blood from the lungs to the left atrium of the heart.
A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component.
Congenital or developmental anomaly in which the eyeballs are abnormally small.
The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.

Alteration of interneuron migration in a ferret model of cortical dysplasia. (1/141)

During cerebral cortical development, gamma-aminobutyric acidergic (GABAergic) interneurons arise from a different site than projection neurons. GABAergic cells are generated in the subpallial ganglionic eminence (GE), while excitatory projection neurons arise from the neocortical ventricular zone. Our laboratory studies a model of cortical dysplasia that displays specific disruption of GABAergic mechanisms and an alteration in the overall balance of excitation in the neocortex. To produce this model, the birth of neurons on a specific gestational day in ferrets (embryonic day 33 [E33]) is interrupted by injection of the antimitotic methylazoxymethanol (MAM). We hypothesized that migration of interneurons might be disrupted in this cortical dysplasia paradigm. We observed that although interneurons migrate into the neocortex in both normal and dysplastic cortex, the migrating cells become disoriented over time after E33 MAM treatment. Coculture experiments using normal GE and MAM-treated cortex (and vice versa) demonstrate that cues dictating proper orientation of migrating interneurons arise from the cortex and are not intrinsic to the migrating cells. As a consequence, interneurons in mature brains of MAM-treated animals are abnormally distributed. We report that GABA(A) receptor activation is crucial to the proper positioning of interneurons migrating into the cortex from the GE in normal and MAM-treated animals.  (+info)

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. (2/141)

Bilateral frontoparietal polymicrogyria (BFPP) is a congenital brain malformation resulting in irregularities on the surface of the cortex, where normally convoluted gyri are replaced by numerous (poly) and noticeably smaller (micro) gyri. Individuals with BFPP suffer from epilepsy, mental retardation, language impairment and motor developmental delay. Mutations in the gene-encoding G protein-coupled receptor 56 (GPR56) cause BFPP; however, it remains unclear how these mutations affect GPR56 function. Here, we examine the biochemical properties and protein trafficking of wild-type and mutant GPR56. We demonstrate that GPR56 protein undergoes two major modifications, GPS domain-mediated protein cleavage and N-glycosylation, and that the N-terminal fragment can be released from the cell surface. In contrast to the wild-type protein, disease-associated GPR56 missense mutations in the tip of the N-terminal domain (R38Q, R38W, Y88C and C91S) produce proteins with reduced intracellular trafficking and poor cell surface expression, whereas the two mutations in the GPS domain (C346S and W349S) produce proteins with dramatically impaired cleavage that fail to traffic beyond the endoplasmic reticulum. Cell-trafficking impairments are abrogated in part by pharmacological chaperones that can partially rescue mutant GPR56 cell surface expression. These data demonstrate that some BFPP-associated mutations in GPR56 impair trafficking of the mutant protein to the plasma membrane, thus providing insights into how BFPP-associated mutations affect GPR56 function.  (+info)

The clinical spectrum of malformations of cortical development. (3/141)

BACKGROUND: Malformations of cortical development (MCD) usually manifest in childhood with epilepsy, developmental delay and focal neurological abnormalities. OBJECTIVE: To evaluate the presentation and severity of epilepsy in the different types of MCD. METHOD: We evaluated the first 100 consecutive patients with a neuroimaging diagnosis of MCD. They were identified among all the high resolution magnetic resonance imaging exams performed at our service between 1997 and 2001. The causes of referral were diverse, according to the routine of the neurology outpatient clinic. After magnetic resonance imaging diagnosis of the subtype of MCD a detailed clinical assessment was performed. RESULTS: There were 55 females and 45 males, with ages ranging from five months to 71 years old (mean=15.2 years). Seventy-seven patients presented with epilepsy. Sixty-one had partial epileptic syndromes, 13 secondary generalized syndromes, and in three, the type of epileptic syndrome could not be established. Epilepsy was less frequent in patients with the MCD subtypes of polymicrogyria and schizencephaly (p<0.001). Patients with schizencephaly and polymicrogyria had their seizures more easily controlled by antiepileptic drugs (p<0.001). CONCLUSION: That the frequency of epilepsy is lower and seizures are more easily controlled in the setting of polymicrogyria and schizencephaly. Patients with MCD frequently present with secondary generalized epilepsy early in childhood.  (+info)

Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. (4/141)

Malformations of cortical development (MCDs) are increasingly recognized as causes of medically intractable epilepsy. In order to develop more effective, rational therapies for refractory epilepsy related to MCDs, it is important to achieve a better understanding of the underlying mechanisms of epileptogenesis, but this is complicated by the wide variety of different radiographic, histopathological, and molecular features of these disorders. A subset of MCDs share a number of characteristic cellular and molecular abnormalities due to early defects in neuronal and glial proliferation and differentiation and have a particularly high incidence of epilepsy, suggesting that this category of MCDs with abnormal glioneuronal proliferation may also share a common set of primary mechanisms of epileptogenesis. This review critically analyzes both clinical and basic science evidence for overlapping mechanisms of epileptogenesis in this group of disorders, focusing on tuberous sclerosis complex, focal cortical dysplasia with balloon cells, and gangliogliomas. Specifically, the role of lesional versus perilesional regions, circuit versus cellular/molecular defects, and nonneuronal factors, such as astrocytes, in contributing to epileptogenesis in these MCDs is examined. An improved understanding of these various factors involved in epileptogenesis has direct clinical implications for optimizing current treatments or developing novel therapeutic approaches for epilepsy in these disorders.  (+info)

Closed-lip schizencephaly around the central sulcus with intractable epilepsy treated by peri-lesional focus resection. (5/141)

A 24-year-old man presented with closed-lip schizencephaly around the right central sulcus manifesting as an 11-year history of intractable epilepsy. Mild motor paresis in the left extremities and mental retardation were observed. Tonic posture with bilateral facial tonic contraction was asymmetrical, predominantly in the left extremities. Magnetic resonance imaging demonstrated closed-lip schizencephaly around the right central sulcus. The epileptogenic zone was determined in the supplementary motor area, and premotor and primary sensorimotor cortices using invasive recordings. As the thickened cortex was considered functional, corticectomy of the supplementary motor area and premotor area was performed, preserving the primary sensorimotor area. Histological examination revealed marked cortico-subcortical gliosis, particularly in the medial part of the resection. Asymmetrical tonic postural seizure disappeared completely after surgery. Medically intractable epilepsy with schizencephaly represents a considerable challenge in epilepsy surgery. Partial corticectomy adjacent to the thickened cortex was effective for seizure control in a patient with closed-lip schizencephaly around the central sulcus.  (+info)

Losing their minds: Mena/VASP/EVL triple knockout mice. (6/141)

A recent Neuron paper by Kwiatkowski et al. that analyzes the phenotypes of mouse embryos lacking all members of the Ena/VASP family reveals new roles for these molecules in cortical development.  (+info)

Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. (7/141)

The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities, hypotonia and mental retardation. In both patients, a refractory epilepsy, compatible with Ohtahara syndrome, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.  (+info)

Aberrant midsagittal fiber tracts in patients with hemimegalencephaly. (8/141)

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Malformations of Cortical Development (MCDs) are a group of congenital brain abnormalities that occur during the development and organization of the cerebral cortex, which is the brain region responsible for higher cognitive functions. These malformations result from disruptions in neuronal migration, proliferation, or organization, leading to varying degrees of cortical thickness, folding, and structural integrity.

MCDs can be classified into several subtypes based on their distinct neuroimaging and histopathological features. Some common MCD subtypes include:

1. Lissencephaly (smooth brain): A severe malformation characterized by the absence of normal gyral and sulcal patterns, resulting in a smooth cortical surface. This is caused by defects in neuronal migration during early development.
2. Polymicrogyria (many small folds): A condition where the cortex has an excessive number of small, irregular gyri, leading to thickened and disorganized cortical layers. This can be focal or diffuse and is caused by abnormal neuronal migration or organization during mid to late development.
3. Schizencephaly (cleft brain): A malformation characterized by a linear cleft or gap in the cerebral cortex, extending from the pial surface to the ventricular system. This can be unilateral or bilateral and is caused by disruptions in neuronal migration and/or cortical organization during early development.
4. Heterotopias (misplaced cells): A condition where groups of neurons are abnormally located within the white matter or at the gray-white matter junction, instead of their normal position in the cerebral cortex. This can be focal or diffuse and is caused by defects in neuronal migration during early development.
5. Focal cortical dysplasia (abnormal localized tissue): A condition characterized by abnormal cortical architecture, including disorganized lamination, enlarged neurons, and heterotopic neurons. This can be focal or multifocal and is caused by defects in cortical organization during late development.

MCDs are often associated with neurological symptoms such as epilepsy, intellectual disability, motor deficits, and behavioral abnormalities. The severity of these symptoms depends on the type, location, and extent of the malformation.

Nervous system malformations, also known as nervous system dysplasias or developmental anomalies, refer to structural abnormalities or defects in the development of the nervous system. These malformations can occur during fetal development and can affect various parts of the nervous system, including the brain, spinal cord, and peripheral nerves.

Nervous system malformations can result from genetic mutations, environmental factors, or a combination of both. They can range from mild to severe and may cause a wide variety of symptoms, depending on the specific type and location of the malformation. Some common examples of nervous system malformations include:

* Spina bifida: a defect in the closure of the spinal cord and surrounding bones, which can lead to neurological problems such as paralysis, bladder and bowel dysfunction, and hydrocephalus.
* Anencephaly: a severe malformation where the brain and skull do not develop properly, resulting in stillbirth or death shortly after birth.
* Chiari malformation: a structural defect in the cerebellum, the part of the brain that controls balance and coordination, which can cause headaches, neck pain, and difficulty swallowing.
* Microcephaly: a condition where the head is smaller than normal due to abnormal development of the brain, which can lead to intellectual disability and developmental delays.
* Hydrocephalus: a buildup of fluid in the brain that can cause pressure on the brain and lead to cognitive impairment, vision problems, and other neurological symptoms.

Treatment for nervous system malformations depends on the specific type and severity of the condition and may include surgery, medication, physical therapy, or a combination of these approaches.

The cerebral cortex is the outermost layer of the brain, characterized by its intricate folded structure and wrinkled appearance. It is a region of great importance as it plays a key role in higher cognitive functions such as perception, consciousness, thought, memory, language, and attention. The cerebral cortex is divided into two hemispheres, each containing four lobes: the frontal, parietal, temporal, and occipital lobes. These areas are responsible for different functions, with some regions specializing in sensory processing while others are involved in motor control or associative functions. The cerebral cortex is composed of gray matter, which contains neuronal cell bodies, and is covered by a layer of white matter that consists mainly of myelinated nerve fibers.

Arteriovenous malformations (AVMs) are abnormal tangles of blood vessels that directly connect arteries and veins, bypassing the capillary system. This results in a high-flow and high-pressure circulation in the affected area. AVMs can occur anywhere in the body but are most common in the brain and spine. They can vary in size and may cause symptoms such as headaches, seizures, or bleeding in the brain. In some cases, AVMs may not cause any symptoms and may only be discovered during imaging tests for other conditions. Treatment options include surgery, radiation therapy, or embolization to reduce the flow of blood through the malformation and prevent complications.

Lissencephaly is a rare neurological disorder characterized by the absence or significant reduction of normal folds (gyri) and sulci (grooves) in the cerebral cortex of the brain. The cerebral cortex, which is responsible for higher brain functions such as thinking, learning, and language, usually has a smooth, flat appearance in individuals with lissencephaly. This condition results from abnormal neuronal migration during fetal development, where nerve cells fail to migrate to their proper positions in the brain.

There are several types of lissencephaly, each with distinct genetic causes and associated symptoms. The most common form is Type I (Classic) Lissencephaly, which affects both hemispheres of the brain and is characterized by a smooth brain surface with four bands of shallow grooves. Other forms include Type II (Cobblestone) Lissencephaly, Miller-Dieker Syndrome, and X-linked Lissencephaly with Ambiguous Genitalia (XLAG).

Symptoms of lissencephaly can vary but often include severe intellectual disability, developmental delays, muscle spasticity or hypotonia, seizures, difficulty swallowing, and problems with vision and hearing. The severity of the condition depends on the extent of the brain malformation. Lissencephaly is a lifelong condition, and individuals with this disorder usually require extensive care and support throughout their lives.

Neuronal migration disorders (NMDs) are a group of genetic conditions that affect the development and migration of neurons (nerve cells) in the brain during embryonic development. These disorders result from abnormalities in the genetic code that control the movement and organization of neurons as they migrate to their proper positions in the brain.

NMDs can cause a wide range of neurological symptoms, depending on which areas of the brain are affected and the severity of the disorder. Symptoms may include intellectual disability, developmental delay, seizures, motor abnormalities, vision or hearing problems, and behavioral issues. Some NMDs may also be associated with structural brain abnormalities that can be seen on imaging studies.

Examples of neuronal migration disorders include lissencephaly, pachygyria, heterotopias, and agyria. These conditions are typically diagnosed through a combination of clinical evaluation, genetic testing, and neuroimaging studies. Treatment for NMDs is generally supportive and may involve medications, therapies, and surgical interventions to manage symptoms and improve quality of life.

Arnold-Chiari malformation is a structural abnormality of the brain and skull base, specifically the cerebellum and brainstem. It is characterized by the descent of the cerebellar tonsils and sometimes parts of the brainstem through the foramen magnum (the opening at the base of the skull) into the upper spinal canal. This can cause pressure on the brainstem and cerebellum, potentially leading to a range of symptoms such as headaches, neck pain, unsteady gait, swallowing difficulties, hearing or balance problems, and in severe cases, neurological deficits. There are four types of Arnold-Chiari malformations, with type I being the most common and least severe form. Types II, III, and IV are progressively more severe and involve varying degrees of hindbrain herniation and associated neural tissue damage. Surgical intervention is often required to alleviate symptoms and prevent further neurological deterioration.

Vascular malformations are abnormalities in the development and growth of blood vessels and lymphatic vessels that can occur anywhere in the body. They can be present at birth or develop later in life, and they can affect both the form and function of the affected tissues and organs. Vascular malformations can involve arteries, veins, capillaries, and/or lymphatic vessels, and they can range from simple, localized lesions to complex, multifocal disorders.

Vascular malformations are typically classified based on their location, size, flow characteristics, and the type of blood or lymphatic vessels involved. Some common types of vascular malformations include:

1. Capillary malformations (CMs): These are characterized by abnormal dilated capillaries that can cause red or pink discoloration of the skin, typically on the face or neck.
2. Venous malformations (VMs): These involve abnormal veins that can cause swelling, pain, and disfigurement in the affected area.
3. Lymphatic malformations (LMs): These involve abnormal lymphatic vessels that can cause swelling, infection, and other complications.
4. Arteriovenous malformations (AVMs): These involve a tangled mass of arteries and veins that can cause high-flow lesions, bleeding, and other serious complications.
5. Combined vascular malformations: These involve a combination of different types of blood or lymphatic vessels, such as capillary-lymphatic-venous malformations (CLVMs) or arteriovenous-lymphatic malformations (AVLMs).

The exact cause of vascular malformations is not fully understood, but they are believed to result from genetic mutations that affect the development and growth of blood vessels and lymphatic vessels. Treatment options for vascular malformations depend on the type, size, location, and severity of the lesion, as well as the patient's age and overall health. Treatment may include medication, compression garments, sclerotherapy, surgery, or a combination of these approaches.

The neocortex, also known as the isocortex, is the most recently evolved and outermost layer of the cerebral cortex in mammalian brains. It plays a crucial role in higher cognitive functions such as sensory perception, spatial reasoning, conscious thought, language, and memory. The neocortex is characterized by its six-layered structure and is divided into several functional regions, including the primary motor, somatosensory, and visual cortices. It is highly expanded in humans and other primates, reflecting our advanced cognitive abilities compared to other animals.

Periventricular Nodular Heterotopia (PNH) is a type of brain malformation where nodules or clusters of gray matter are abnormally located in the periventricular region, which is the area surrounding the ventricles (fluid-filled spaces) within the brain. These nodules fail to migrate to their proper location during brain development, resulting in the heterotopia or misplacement of neurons.

PNH can be classified into two types: symmetrical and asymmetrical. Symmetrical PNH is characterized by bilateral, symmetric nodules along the lateral ventricles, while asymmetrical PNH presents with unilateral or asymmetric nodular distribution. The condition may occur as an isolated finding (nonsyndromic) or in association with other brain abnormalities and genetic disorders (syndromic).

The severity of symptoms associated with Periventricular Nodular Heterotopia varies widely, ranging from normal cognitive function to various neurological impairments such as epilepsy, intellectual disability, and motor deficits. The presence of PNH may increase the risk for developing seizures, particularly in cases where nodules are large or located near the cortex. Treatment typically focuses on managing symptoms, including antiepileptic drugs to control seizures and rehabilitation therapies to address any neurological deficits.

Neurons, also known as nerve cells or neurocytes, are specialized cells that constitute the basic unit of the nervous system. They are responsible for receiving, processing, and transmitting information and signals within the body. Neurons have three main parts: the dendrites, the cell body (soma), and the axon. The dendrites receive signals from other neurons or sensory receptors, while the axon transmits these signals to other neurons, muscles, or glands. The junction between two neurons is called a synapse, where neurotransmitters are released to transmit the signal across the gap (synaptic cleft) to the next neuron. Neurons vary in size, shape, and structure depending on their function and location within the nervous system.

Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures. These seizures are caused by abnormal electrical activity in the brain, which can result in a wide range of symptoms, including convulsions, loss of consciousness, and altered sensations or behaviors. Epilepsy can have many different causes, including genetic factors, brain injury, infection, or stroke. In some cases, the cause may be unknown.

There are many different types of seizures that can occur in people with epilepsy, and the specific type of seizure will depend on the location and extent of the abnormal electrical activity in the brain. Some people may experience only one type of seizure, while others may have several different types. Seizures can vary in frequency, from a few per year to dozens or even hundreds per day.

Epilepsy is typically diagnosed based on the patient's history of recurrent seizures and the results of an electroencephalogram (EEG), which measures the electrical activity in the brain. Imaging tests such as MRI or CT scans may also be used to help identify any structural abnormalities in the brain that may be contributing to the seizures.

While there is no cure for epilepsy, it can often be effectively managed with medication. In some cases, surgery may be recommended to remove the area of the brain responsible for the seizures. With proper treatment and management, many people with epilepsy are able to lead normal, productive lives.

Cobblestone lissencephaly is a type of brain malformation characterized by a smooth brain surface with no normal convolutions (gyri) or indentations (sulci). Instead, the brain surface has a pebbly or "cobblestone" appearance. This condition is caused by abnormal migration of nerve cells during fetal development.

In cobblestone lissencephaly, the nerve cells that should form the outer layer of the brain (the cerebral cortex) fail to migrate properly and instead accumulate in thick layers beneath the surface of the brain. This can lead to severe intellectual disability, seizures, muscle spasticity, vision problems, and other neurological issues.

Cobblestone lissencephaly is often associated with genetic disorders such as Walker-Warburg syndrome, Muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy. It can also be seen in some cases of congenital infection or exposure to environmental toxins during pregnancy.

A choristoma is a type of growth that occurs when normally functioning tissue is found in an abnormal location within the body. It is not cancerous or harmful, but it can cause problems if it presses on surrounding structures or causes symptoms. Choristomas are typically congenital, meaning they are present at birth, and are thought to occur due to developmental errors during embryonic growth. They can be found in various organs and tissues throughout the body, including the brain, eye, skin, and gastrointestinal tract.

Neurologic mutant mice are genetically engineered or spontaneously mutated rodents that are used as models to study various neurological disorders and conditions. These mice have specific genetic modifications or mutations that affect their nervous system, leading to phenotypes that resemble human neurological diseases.

Some examples of neurologic mutant mice include:

1. Alzheimer's disease models: Mice that overexpress genes associated with Alzheimer's disease, such as the amyloid precursor protein (APP) or presenilin 1 (PS1), to study the pathogenesis and potential treatments of this disorder.
2. Parkinson's disease models: Mice that have genetic mutations in genes associated with Parkinson's disease, such as alpha-synuclein or parkin, to investigate the mechanisms underlying this condition and develop new therapies.
3. Huntington's disease models: Mice that carry an expanded CAG repeat in the huntingtin gene to replicate the genetic defect seen in humans with Huntington's disease and study disease progression and treatment strategies.
4. Epilepsy models: Mice with genetic mutations that cause spontaneous seizures or increased susceptibility to seizures, used to investigate the underlying mechanisms of epilepsy and develop new treatments.
5. Stroke models: Mice that have surgical induction of stroke or genetic modifications that increase the risk of stroke, used to study the pathophysiology of stroke and identify potential therapeutic targets.

Neurologic mutant mice are essential tools in biomedical research, allowing scientists to investigate the complex interactions between genes and the environment that contribute to neurological disorders. These models help researchers better understand disease mechanisms, develop new therapies, and test their safety and efficacy before moving on to clinical trials in humans.

Neurogenesis is the process by which new neurons (nerve cells) are generated in the brain. It occurs throughout life in certain areas of the brain, such as the hippocampus and subventricular zone, although the rate of neurogenesis decreases with age. Neurogenesis involves the proliferation, differentiation, and integration of new neurons into existing neural circuits. This process plays a crucial role in learning, memory, and recovery from brain injury or disease.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Congenital abnormalities, also known as birth defects, are structural or functional anomalies that are present at birth. These abnormalities can develop at any point during fetal development, and they can affect any part of the body. They can be caused by genetic factors, environmental influences, or a combination of both.

Congenital abnormalities can range from mild to severe and may include structural defects such as heart defects, neural tube defects, and cleft lip and palate, as well as functional defects such as intellectual disabilities and sensory impairments. Some congenital abnormalities may be visible at birth, while others may not become apparent until later in life.

In some cases, congenital abnormalities may be detected through prenatal testing, such as ultrasound or amniocentesis. In other cases, they may not be diagnosed until after the baby is born. Treatment for congenital abnormalities varies depending on the type and severity of the defect, and may include surgery, therapy, medication, or a combination of these approaches.

Cell adhesion molecules (CAMs) are a type of protein that mediates the attachment or binding of cells to their surrounding extracellular matrix or to other cells. Neuronal cell adhesion molecules (NCAMs) are a specific subtype of CAMs that are primarily expressed on neurons and play crucial roles in the development, maintenance, and function of the nervous system.

NCAMs are involved in various processes such as cell recognition, migration, differentiation, synaptic plasticity, and neural circuit formation. They can interact with other NCAMs or other types of CAMs to form homophilic or heterophilic bonds, respectively. The binding of NCAMs can activate intracellular signaling pathways that regulate various cellular responses.

NCAMs are classified into three major families based on their molecular structure: the immunoglobulin superfamily (Ig-CAMs), the cadherin family, and the integrin family. The Ig-CAMs include NCAM1 (also known as CD56), which is a glycoprotein with multiple extracellular Ig-like domains and intracellular signaling motifs. The cadherin family includes N-cadherin, which mediates calcium-dependent cell-cell adhesion. The integrin family includes integrins such as α5β1 and αVβ3, which mediate cell-matrix adhesion.

Abnormalities in NCAMs have been implicated in various neurological disorders, including schizophrenia, Alzheimer's disease, and autism spectrum disorder. Therefore, understanding the structure and function of NCAMs is essential for developing therapeutic strategies to treat these conditions.

The telencephalon is the most anterior (front) region of the embryonic brain, which eventually develops into the largest portion of the adult human brain, including the cerebral cortex, basal ganglia, and olfactory bulbs. It is derived from the prosencephalon (forebrain) during embryonic development and is responsible for higher cognitive functions such as thinking, perception, and language. The telencephalon can be further divided into two hemispheres, each containing regions associated with different functions.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Methylazoxymethanol Acetate (MAM) is not a medication or therapeutic agent used in human medicine. It is a research tool, specifically a neurotoxin, that is used in laboratory studies to help understand the development and organization of the nervous system, particularly in relation to neurodegenerative disorders and brain injuries.

MAM is primarily used in animal models, often rats or mice, to study the effects of early life exposure to neurotoxic substances on brain development. It is known to cause widespread degeneration of nerve cells (neurons) and disruption of normal neural connections, which can provide valuable insights into the processes underlying various neurological conditions.

However, it's important to note that MAM is not used as a treatment or therapy in human medicine due to its neurotoxic properties.

Developmental gene expression regulation refers to the processes that control the activation or repression of specific genes during embryonic and fetal development. These regulatory mechanisms ensure that genes are expressed at the right time, in the right cells, and at appropriate levels to guide proper growth, differentiation, and morphogenesis of an organism.

Developmental gene expression regulation is a complex and dynamic process involving various molecular players, such as transcription factors, chromatin modifiers, non-coding RNAs, and signaling molecules. These regulators can interact with cis-regulatory elements, like enhancers and promoters, to fine-tune the spatiotemporal patterns of gene expression during development.

Dysregulation of developmental gene expression can lead to various congenital disorders and developmental abnormalities. Therefore, understanding the principles and mechanisms governing developmental gene expression regulation is crucial for uncovering the etiology of developmental diseases and devising potential therapeutic strategies.

Cell movement, also known as cell motility, refers to the ability of cells to move independently and change their location within tissue or inside the body. This process is essential for various biological functions, including embryonic development, wound healing, immune responses, and cancer metastasis.

There are several types of cell movement, including:

1. **Crawling or mesenchymal migration:** Cells move by extending and retracting protrusions called pseudopodia or filopodia, which contain actin filaments. This type of movement is common in fibroblasts, immune cells, and cancer cells during tissue invasion and metastasis.
2. **Amoeboid migration:** Cells move by changing their shape and squeezing through tight spaces without forming protrusions. This type of movement is often observed in white blood cells (leukocytes) as they migrate through the body to fight infections.
3. **Pseudopodial extension:** Cells extend pseudopodia, which are temporary cytoplasmic projections containing actin filaments. These protrusions help the cell explore its environment and move forward.
4. **Bacterial flagellar motion:** Bacteria use a whip-like structure called a flagellum to propel themselves through their environment. The rotation of the flagellum is driven by a molecular motor in the bacterial cell membrane.
5. **Ciliary and ependymal movement:** Ciliated cells, such as those lining the respiratory tract and fallopian tubes, have hair-like structures called cilia that beat in coordinated waves to move fluids or mucus across the cell surface.

Cell movement is regulated by a complex interplay of signaling pathways, cytoskeletal rearrangements, and adhesion molecules, which enable cells to respond to environmental cues and navigate through tissues.

Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:

1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).

2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.

3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.

4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.

5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.

6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.

7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Congenital Cystic Adenomatoid Malformation (CCAM) of the lung is a rare developmental anomaly of the lungs that affects the terminal ends of the bronchus. It is characterized by the presence of abnormal masses or nodules filled with mucus or air-filled cysts in the lung tissue. These malformations are typically present at birth but may not cause any symptoms until later in life, if at all.

CCAMs are classified into three types based on their size, location, and the number of cysts present. Type I CCAMs have one or more large cysts (greater than 2 cm in diameter), type II CCAMs have multiple small cysts (less than 1 cm in diameter), and type III CCAMs are solid masses without any visible cysts.

CCAMs can cause a range of symptoms, including respiratory distress, coughing, wheezing, recurrent lung infections, and difficulty gaining weight. In severe cases, they may lead to heart failure or fetal hydrops (a condition characterized by fluid accumulation in the fetus).

The diagnosis of CCAMs is typically made through prenatal ultrasound or imaging studies such as CT scans or MRIs after birth. Treatment usually involves surgical removal of the affected lung tissue, which can be done safely with minimal risk to the child's health and development.

Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.

Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.

Electroporation is a medical procedure that involves the use of electrical fields to create temporary pores or openings in the cell membrane, allowing for the efficient uptake of molecules, drugs, or genetic material into the cell. This technique can be used for various purposes, including delivering genes in gene therapy, introducing drugs for cancer treatment, or transforming cells in laboratory research. The electrical pulses are carefully controlled to ensure that they are strong enough to create pores in the membrane without causing permanent damage to the cell. After the electrical field is removed, the pores typically close and the cell membrane returns to its normal state.

"Drug-induced abnormalities" refer to physical or physiological changes that occur as a result of taking medication or drugs. These abnormalities can affect various organs and systems in the body and can range from minor symptoms, such as nausea or dizziness, to more serious conditions, such as liver damage or heart rhythm disturbances.

Drug-induced abnormalities can occur for several reasons, including:

1. Direct toxicity: Some drugs can directly damage cells and tissues in the body, leading to abnormalities.
2. Altered metabolism: Drugs can interfere with normal metabolic processes in the body, leading to the accumulation of harmful substances or the depletion of essential nutrients.
3. Hormonal imbalances: Some drugs can affect hormone levels in the body, leading to abnormalities.
4. Allergic reactions: Some people may have allergic reactions to certain drugs, which can cause a range of symptoms, including rashes, swelling, and difficulty breathing.
5. Interactions with other drugs: Taking multiple medications or drugs at the same time can increase the risk of drug-induced abnormalities.

It is important for healthcare providers to monitor patients closely for signs of drug-induced abnormalities and to adjust medication dosages or switch to alternative treatments as necessary. Patients should also inform their healthcare providers of any symptoms they experience while taking medication, as these may be related to drug-induced abnormalities.

Neural stem cells (NSCs) are a type of undifferentiated cells found in the central nervous system, including the brain and spinal cord. They have the ability to self-renew and generate the main types of cells found in the nervous system, such as neurons, astrocytes, and oligodendrocytes. NSCs are capable of dividing symmetrically to increase their own population or asymmetrically to produce one stem cell and one differentiated cell. They play a crucial role in the development and maintenance of the nervous system, and have the potential to be used in regenerative medicine and therapies for neurological disorders and injuries.

Generalized epilepsy is a type of epilepsy characterized by seizures that involve both halves of the brain (generalized onset) from the beginning of the seizure. These types of seizures include tonic-clonic (grand mal) seizures, absence (petit mal) seizures, and myoclonic seizures. Generalized epilepsy can be caused by genetic factors or brain abnormalities, and it is typically treated with medication. People with generalized epilepsy may experience difficulties with learning, memory, and behavior, and they may have a higher risk of injury during a seizure. It's important for individuals with generalized epilepsy to work closely with their healthcare team to manage their condition and reduce the frequency and severity of seizures.

The meninges are the protective membranes that cover the brain and spinal cord. They consist of three layers: the dura mater (the outermost, toughest layer), the arachnoid mater (middle layer), and the pia mater (the innermost, delicate layer). These membranes provide protection and support to the central nervous system, and contain blood vessels that supply nutrients and remove waste products. Inflammation or infection of the meninges is called meningitis, which can be a serious medical condition requiring prompt treatment.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

"Newborn animals" refers to the very young offspring of animals that have recently been born. In medical terminology, newborns are often referred to as "neonates," and they are classified as such from birth until about 28 days of age. During this time period, newborn animals are particularly vulnerable and require close monitoring and care to ensure their survival and healthy development.

The specific needs of newborn animals can vary widely depending on the species, but generally, they require warmth, nutrition, hydration, and protection from harm. In many cases, newborns are unable to regulate their own body temperature or feed themselves, so they rely heavily on their mothers for care and support.

In medical settings, newborn animals may be examined and treated by veterinarians to ensure that they are healthy and receiving the care they need. This can include providing medical interventions such as feeding tubes, antibiotics, or other treatments as needed to address any health issues that arise. Overall, the care and support of newborn animals is an important aspect of animal medicine and conservation efforts.

A cavernous hemangioma in the central nervous system (CNS) refers to a type of benign vascular tumor that is made up of dilated and thin-walled blood vessels. These tumors are called "cavernous" because they are filled with blood-filled sacs or "caverns."

When these hemangiomas occur in the CNS, which includes the brain and spinal cord, they can cause various neurological symptoms depending on their size and location. Small hemangiomas may not cause any symptoms at all, while larger ones can cause seizures, headaches, weakness, or sensory changes.

Cavernous hemangiomas in the CNS are typically congenital, meaning that they are present at birth. However, they may not become symptomatic until later in life. Treatment options for cavernous hemangiomas in the CNS include observation, surgery, or radiation therapy, depending on the size, location, and symptoms caused by the tumor.

Cell differentiation is the process by which a less specialized cell, or stem cell, becomes a more specialized cell type with specific functions and structures. This process involves changes in gene expression, which are regulated by various intracellular signaling pathways and transcription factors. Differentiation results in the development of distinct cell types that make up tissues and organs in multicellular organisms. It is a crucial aspect of embryonic development, tissue repair, and maintenance of homeostasis in the body.

The cerebral ventricles are a system of interconnected fluid-filled cavities within the brain. They are located in the center of the brain and are filled with cerebrospinal fluid (CSF), which provides protection to the brain by cushioning it from impacts and helping to maintain its stability within the skull.

There are four ventricles in total: two lateral ventricles, one third ventricle, and one fourth ventricle. The lateral ventricles are located in each cerebral hemisphere, while the third ventricle is located between the thalami of the two hemispheres. The fourth ventricle is located at the base of the brain, above the spinal cord.

CSF flows from the lateral ventricles into the third ventricle through narrow passageways called the interventricular foramen. From there, it flows into the fourth ventricle through another narrow passageway called the cerebral aqueduct. CSF then leaves the fourth ventricle and enters the subarachnoid space surrounding the brain and spinal cord, where it can be absorbed into the bloodstream.

Abnormalities in the size or shape of the cerebral ventricles can indicate underlying neurological conditions, such as hydrocephalus (excessive accumulation of CSF) or atrophy (shrinkage) of brain tissue. Imaging techniques, such as computed tomography (CT) or magnetic resonance imaging (MRI), are often used to assess the size and shape of the cerebral ventricles in clinical settings.

According to the National Institutes of Health (NIH), stem cells are "initial cells" or "precursor cells" that have the ability to differentiate into many different cell types in the body. They can also divide without limit to replenish other cells for as long as the person or animal is still alive.

There are two main types of stem cells: embryonic stem cells, which come from human embryos, and adult stem cells, which are found in various tissues throughout the body. Embryonic stem cells have the ability to differentiate into all cell types in the body, while adult stem cells have more limited differentiation potential.

Stem cells play an essential role in the development and repair of various tissues and organs in the body. They are currently being studied for their potential use in the treatment of a wide range of diseases and conditions, including cancer, diabetes, heart disease, and neurological disorders. However, more research is needed to fully understand the properties and capabilities of these cells before they can be used safely and effectively in clinical settings.

Gestational age is the length of time that has passed since the first day of the last menstrual period (LMP) in pregnant women. It is the standard unit used to estimate the age of a pregnancy and is typically expressed in weeks. This measure is used because the exact date of conception is often not known, but the start of the last menstrual period is usually easier to recall.

It's important to note that since ovulation typically occurs around two weeks after the start of the LMP, gestational age is approximately two weeks longer than fetal age, which is the actual time elapsed since conception. Medical professionals use both gestational and fetal age to track the development and growth of the fetus during pregnancy.

Neuroglia, also known as glial cells or simply glia, are non-neuronal cells that provide support and protection for neurons in the nervous system. They maintain homeostasis, form myelin sheaths around nerve fibers, and provide structural support. They also play a role in the immune response of the central nervous system. Some types of neuroglia include astrocytes, oligodendrocytes, microglia, and ependymal cells.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Brain diseases, also known as neurological disorders, refer to a wide range of conditions that affect the brain and nervous system. These diseases can be caused by various factors such as genetics, infections, injuries, degeneration, or structural abnormalities. They can affect different parts of the brain, leading to a variety of symptoms and complications.

Some examples of brain diseases include:

1. Alzheimer's disease - a progressive degenerative disorder that affects memory and cognitive function.
2. Parkinson's disease - a movement disorder characterized by tremors, stiffness, and difficulty with coordination and balance.
3. Multiple sclerosis - a chronic autoimmune disease that affects the nervous system and can cause a range of symptoms such as vision loss, muscle weakness, and cognitive impairment.
4. Epilepsy - a neurological disorder characterized by recurrent seizures.
5. Brain tumors - abnormal growths in the brain that can be benign or malignant.
6. Stroke - a sudden interruption of blood flow to the brain, which can cause paralysis, speech difficulties, and other neurological symptoms.
7. Meningitis - an infection of the membranes surrounding the brain and spinal cord.
8. Encephalitis - an inflammation of the brain that can be caused by viruses, bacteria, or autoimmune disorders.
9. Huntington's disease - a genetic disorder that affects muscle coordination, cognitive function, and mental health.
10. Migraine - a neurological condition characterized by severe headaches, often accompanied by nausea, vomiting, and sensitivity to light and sound.

Brain diseases can range from mild to severe and may be treatable or incurable. They can affect people of all ages and backgrounds, and early diagnosis and treatment are essential for improving outcomes and quality of life.

Organogenesis is the process of formation and development of organs during embryonic growth. It involves the complex interactions of cells, tissues, and signaling molecules that lead to the creation of specialized structures in the body. This process begins in the early stages of embryonic development, around week 4-8, and continues until birth. During organogenesis, the three primary germ layers (ectoderm, mesoderm, and endoderm) differentiate into various cell types and organize themselves into specific structures that will eventually form the functional organs of the body. Abnormalities in organogenesis can result in congenital disorders or birth defects.

Extracellular matrix (ECM) proteins are a group of structural and functional molecules that provide support, organization, and regulation to the cells in tissues and organs. The ECM is composed of a complex network of proteins, glycoproteins, and carbohydrates that are secreted by the cells and deposited outside of them.

ECM proteins can be classified into several categories based on their structure and function, including:

1. Collagens: These are the most abundant ECM proteins and provide strength and stability to tissues. They form fibrils that can withstand high tensile forces.
2. Proteoglycans: These are complex molecules made up of a core protein and one or more glycosaminoglycan (GAG) chains. The GAG chains attract water, making proteoglycans important for maintaining tissue hydration and resilience.
3. Elastin: This is an elastic protein that allows tissues to stretch and recoil, such as in the lungs and blood vessels.
4. Fibronectins: These are large glycoproteins that bind to cells and ECM components, providing adhesion, migration, and signaling functions.
5. Laminins: These are large proteins found in basement membranes, which provide structural support for epithelial and endothelial cells.
6. Tenascins: These are large glycoproteins that modulate cell adhesion and migration, and regulate ECM assembly and remodeling.

Together, these ECM proteins create a microenvironment that influences cell behavior, differentiation, and function. Dysregulation of ECM proteins has been implicated in various diseases, including fibrosis, cancer, and degenerative disorders.

Bromodeoxyuridine (BrdU) is a synthetic thymidine analog that can be incorporated into DNA during cell replication. It is often used in research and medical settings as a marker for cell proliferation or as a tool to investigate DNA synthesis and repair. When cells are labeled with BrdU and then examined using immunofluorescence or other detection techniques, the presence of BrdU can indicate which cells have recently divided or are actively synthesizing DNA.

In medical contexts, BrdU has been used in cancer research to study tumor growth and response to treatment. It has also been explored as a potential therapeutic agent for certain conditions, such as neurodegenerative diseases, where promoting cell proliferation and replacement of damaged cells may be beneficial. However, its use as a therapeutic agent is still experimental and requires further investigation.

A mammalian embryo is the developing offspring of a mammal, from the time of implantation of the fertilized egg (blastocyst) in the uterus until the end of the eighth week of gestation. During this period, the embryo undergoes rapid cell division and organ differentiation to form a complex structure with all the major organs and systems in place. This stage is followed by fetal development, which continues until birth. The study of mammalian embryos is important for understanding human development, evolution, and reproductive biology.

Neuroimaging is a medical term that refers to the use of various techniques to either directly or indirectly image the structure, function, or pharmacology of the nervous system. It includes techniques such as computed tomography (CT), magnetic resonance imaging (MRI), functional MRI (fMRI), positron emission tomography (PET), single-photon emission computed tomography (SPECT), and diffusion tensor imaging (DTI). These techniques are used to diagnose and monitor various neurological and psychiatric conditions, as well as to understand the underlying mechanisms of brain function in health and disease.

Urogenital abnormalities refer to structural or functional anomalies that affect the urinary and genital systems. These two systems are closely linked during embryonic development, and sometimes they may not develop properly, leading to various types of congenital defects. Urogenital abnormalities can range from minor issues like a bifid scrotum (a condition where the scrotum is split into two parts) to more severe problems such as bladder exstrophy (where the bladder develops outside the body).

These conditions may affect urination, reproduction, and sexual function. They can also increase the risk of infections and other complications. Urogenital abnormalities can be diagnosed through physical examination, imaging tests, or genetic testing. Treatment options depend on the specific condition but may include surgery, medication, or lifestyle changes.

Syringomyelia is a medical condition characterized by the formation of a fluid-filled cavity or cavities (syrinx) within the spinal cord. This syrinx can lead to various symptoms depending on its size and location, which may include pain, muscle weakness, numbness, and stiffness in the neck, back, shoulders, arms, or legs. In some cases, it may also affect bladder and bowel function, sexual performance, and the ability to maintain normal body temperature. Syringomyelia is often associated with Chiari malformation, a condition where the lower part of the brain extends into the spinal canal. However, other conditions such as spinal cord injuries, tumors, or infections may also cause syringomyelia.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Congenital limb deformities refer to abnormalities in the structure, position, or function of the arms or legs that are present at birth. These deformities can vary greatly in severity and may affect any part of the limb, including the bones, muscles, joints, and nerves.

Congenital limb deformities can be caused by genetic factors, exposure to certain medications or chemicals during pregnancy, or other environmental factors. Some common types of congenital limb deformities include:

1. Clubfoot: A condition in which the foot is twisted out of shape, making it difficult to walk normally.
2. Polydactyly: A condition in which a person is born with extra fingers or toes.
3. Radial clubhand: A rare condition in which the radius bone in the forearm is missing or underdeveloped, causing the hand to turn inward and the wrist to bend.
4. Amniotic band syndrome: A condition in which strands of the amniotic sac wrap around a developing limb, restricting its growth and leading to deformities.
5. Agenesis: A condition in which a limb or part of a limb is missing at birth.

Treatment for congenital limb deformities may include surgery, bracing, physical therapy, or other interventions depending on the severity and nature of the deformity. In some cases, early intervention and treatment can help to improve function and reduce the impact of the deformity on a person's daily life.

A fetus is the developing offspring in a mammal, from the end of the embryonic period (approximately 8 weeks after fertilization in humans) until birth. In humans, the fetal stage of development starts from the eleventh week of pregnancy and continues until childbirth, which is termed as full-term pregnancy at around 37 to 40 weeks of gestation. During this time, the organ systems become fully developed and the body grows in size. The fetus is surrounded by the amniotic fluid within the amniotic sac and is connected to the placenta via the umbilical cord, through which it receives nutrients and oxygen from the mother. Regular prenatal care is essential during this period to monitor the growth and development of the fetus and ensure a healthy pregnancy and delivery.

Imperforate anus is a congenital condition in which the opening of the anus is absent or abnormally closed or narrowed, preventing the normal passage of stool. This results in a blockage in the digestive tract and can lead to serious health complications if not treated promptly.

The anus is the external opening of the rectum, which is the lower end of the digestive tract. During fetal development, the rectum and anus normally connect through a canal called the anal canal or the recto-anal canal. In imperforate anus, this canal may be completely closed or narrowed, or it may not form properly.

Imperforate anus can occur as an isolated condition or as part of a genetic syndrome or other congenital abnormalities. The exact cause is not fully understood, but it is believed to result from a combination of genetic and environmental factors.

Treatment for imperforate anus typically involves surgery to create an opening in the anus and restore normal bowel function. In some cases, additional procedures may be necessary to correct related abnormalities or complications. The prognosis for individuals with imperforate anus depends on the severity of the condition and any associated abnormalities. With prompt and appropriate treatment, most people with imperforate anus can lead normal lives.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder that affects the blood vessels. It is also known as Osler-Weber-Rendu syndrome. This condition is characterized by the formation of abnormal blood vessels called telangiectases, which are small red spots or tiny bulges that can be found in the skin, mucous membranes (like those inside the nose, mouth, and GI tract), and sometimes in vital organs like the lungs and brain.

These telangiectases have a tendency to bleed easily, leading to potentially serious complications such as anemia due to chronic blood loss, and in some cases, strokes or brain abscesses if the telangiectases in the brain rupture. HHT is typically inherited in an autosomal dominant pattern, meaning that a child has a 50% chance of inheriting the gene from an affected parent. There are several genes associated with HHT, the most common being ACVRL1, ENG, and SMAD4.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

The visual cortex is the part of the brain that processes visual information. It is located in the occipital lobe, which is at the back of the brain. The visual cortex is responsible for receiving and interpreting signals from the retina, which are then transmitted through the optic nerve and optic tract.

The visual cortex contains several areas that are involved in different aspects of visual processing, such as identifying shapes, colors, and movements. These areas work together to help us recognize and understand what we see. Damage to the visual cortex can result in various visual impairments, such as blindness or difficulty with visual perception.

A ferret is a domesticated mammal that belongs to the weasel family, Mustelidae. The scientific name for the common ferret is Mustela putorius furo. Ferrets are native to Europe and have been kept as pets for thousands of years due to their playful and curious nature. They are small animals, typically measuring between 13-20 inches in length, including their tail, and weighing between 1.5-4 pounds.

Ferrets have a slender body with short legs, a long neck, and a pointed snout. They have a thick coat of fur that can vary in color from white to black, with many different patterns in between. Ferrets are known for their high level of activity and intelligence, and they require regular exercise and mental stimulation to stay healthy and happy.

Ferrets are obligate carnivores, which means that they require a diet that is high in protein and low in carbohydrates. They have a unique digestive system that allows them to absorb nutrients efficiently from their food, but it also means that they are prone to certain health problems if they do not receive proper nutrition.

Ferrets are social animals and typically live in groups. They communicate with each other using a variety of vocalizations, including barks, chirps, and purrs. Ferrets can be trained to use a litter box and can learn to perform simple tricks. With proper care and attention, ferrets can make loving and entertaining pets.

Paired box (PAX) transcription factors are a group of proteins that regulate gene expression during embryonic development and in some adult tissues. They are characterized by the presence of a paired box domain, a conserved DNA-binding motif that recognizes specific DNA sequences. PAX proteins play crucial roles in various developmental processes, such as the formation of the nervous system, eyes, and pancreas. Dysregulation of PAX genes has been implicated in several human diseases, including cancer.

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes non-cancerous (benign) tumors to grow in many parts of the body. These tumors can affect the brain, skin, heart, kidneys, eyes, and lungs. The signs and symptoms of TSC can vary widely, depending on where the tumors develop and how severely a person is affected.

The condition is caused by mutations in either the TSC1 or TSC2 gene, which regulate a protein that helps control cell growth and division. When these genes are mutated, the protein is not produced correctly, leading to excessive cell growth and the development of tumors.

TSC is typically diagnosed based on clinical symptoms, medical imaging, and genetic testing. Treatment for TSC often involves a multidisciplinary approach, with specialists in neurology, dermatology, cardiology, nephrology, pulmonology, and ophthalmology working together to manage the various symptoms of the condition. Medications, surgery, and other therapies may be used to help control seizures, developmental delays, skin abnormalities, and other complications of TSC.

Serine endopeptidases are a type of enzymes that cleave peptide bonds within proteins (endopeptidases) and utilize serine as the nucleophilic amino acid in their active site for catalysis. These enzymes play crucial roles in various biological processes, including digestion, blood coagulation, and programmed cell death (apoptosis). Examples of serine endopeptidases include trypsin, chymotrypsin, thrombin, and elastase.

Congenital heart defects (CHDs) are structural abnormalities in the heart that are present at birth. They can affect any part of the heart's structure, including the walls of the heart, the valves inside the heart, and the major blood vessels that lead to and from the heart.

Congenital heart defects can range from mild to severe and can cause various symptoms depending on the type and severity of the defect. Some common symptoms of CHDs include cyanosis (a bluish tint to the skin, lips, and fingernails), shortness of breath, fatigue, poor feeding, and slow growth in infants and children.

There are many different types of congenital heart defects, including:

1. Septal defects: These are holes in the walls that separate the four chambers of the heart. The two most common septal defects are atrial septal defect (ASD) and ventricular septal defect (VSD).
2. Valve abnormalities: These include narrowed or leaky valves, which can affect blood flow through the heart.
3. Obstruction defects: These occur when blood flow is blocked or restricted due to narrowing or absence of a part of the heart's structure. Examples include pulmonary stenosis and coarctation of the aorta.
4. Cyanotic heart defects: These cause a lack of oxygen in the blood, leading to cyanosis. Examples include tetralogy of Fallot and transposition of the great arteries.

The causes of congenital heart defects are not fully understood, but genetic factors and environmental influences during pregnancy may play a role. Some CHDs can be detected before birth through prenatal testing, while others may not be diagnosed until after birth or later in childhood. Treatment for CHDs may include medication, surgery, or other interventions to improve blood flow and oxygenation of the body's tissues.

Central nervous system (CNS) vascular malformations are abnormal tangles or masses of blood vessels in the brain or spinal cord. These malformations can be congenital (present at birth) or acquired (develop later in life). They can vary in size, location, and symptoms, which may include headaches, seizures, weakness, numbness, difficulty speaking or understanding speech, and vision problems.

There are several types of CNS vascular malformations, including:

1. Arteriovenous malformations (AVMs): These are tangles of arteries and veins with a direct connection between them, bypassing the capillary network. AVMs can cause bleeding in the brain or spinal cord, leading to stroke or neurological deficits.
2. Cavernous malformations: These are clusters of dilated, thin-walled blood vessels that form a sac-like structure. They can rupture and bleed, causing symptoms such as seizures, headaches, or neurological deficits.
3. Developmental venous anomalies (DVAs): These are benign vascular malformations characterized by an abnormal pattern of veins that drain blood from the brain. DVAs are usually asymptomatic but can be associated with other vascular malformations.
4. Capillary telangiectasias: These are small clusters of dilated capillaries in the brain or spinal cord. They are usually asymptomatic and found incidentally during imaging studies.
5. Moyamoya disease: This is a rare, progressive cerebrovascular disorder characterized by the narrowing or blockage of the internal carotid arteries and their branches. This can lead to decreased blood flow to the brain, causing symptoms such as headaches, seizures, and strokes.

The diagnosis of CNS vascular malformations typically involves imaging studies such as MRI or CT scans, and sometimes angiography. Treatment options may include observation, medication, surgery, or endovascular procedures, depending on the type, location, and severity of the malformation.

Dandy-Walker Syndrome is a congenital brain malformation characterized by the absence or underdevelopment of the cerebellar vermis (the part of the brain that helps coordinate movement) and an enlarged fluid-filled space (fourth ventricle) surrounding it. This condition can also be associated with an upward bulging of the back of the skull (occipital bone), and in some cases, hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The syndrome can vary in severity, and symptoms may include problems with balance, coordination, developmental delays, and increased intracranial pressure. It is usually diagnosed through imaging tests such as ultrasound, CT scan, or MRI. Treatment typically involves managing symptoms and addressing complications, which may include surgical procedures to relieve hydrocephalus if present.

The thalamus is a large, paired structure in the brain that serves as a relay station for sensory and motor signals to the cerebral cortex. It is located in the dorsal part of the diencephalon and is made up of two symmetrical halves, each connected to the corresponding cerebral hemisphere.

The thalamus receives inputs from almost all senses, except for the olfactory system, and processes them before sending them to specific areas in the cortex. It also plays a role in regulating consciousness, sleep, and alertness. Additionally, the thalamus is involved in motor control by relaying information between the cerebellum and the motor cortex.

The thalamus is divided into several nuclei, each with distinct connections and functions. Some of these nuclei are involved in sensory processing, while others are involved in motor function or regulation of emotions and cognition. Overall, the thalamus plays a critical role in integrating information from various brain regions and modulating cognitive and emotional processes.

In situ hybridization (ISH) is a molecular biology technique used to detect and localize specific nucleic acid sequences, such as DNA or RNA, within cells or tissues. This technique involves the use of a labeled probe that is complementary to the target nucleic acid sequence. The probe can be labeled with various types of markers, including radioisotopes, fluorescent dyes, or enzymes.

During the ISH procedure, the labeled probe is hybridized to the target nucleic acid sequence in situ, meaning that the hybridization occurs within the intact cells or tissues. After washing away unbound probe, the location of the labeled probe can be visualized using various methods depending on the type of label used.

In situ hybridization has a wide range of applications in both research and diagnostic settings, including the detection of gene expression patterns, identification of viral infections, and diagnosis of genetic disorders.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Computer-assisted image processing is a medical term that refers to the use of computer systems and specialized software to improve, analyze, and interpret medical images obtained through various imaging techniques such as X-ray, CT (computed tomography), MRI (magnetic resonance imaging), ultrasound, and others.

The process typically involves several steps, including image acquisition, enhancement, segmentation, restoration, and analysis. Image processing algorithms can be used to enhance the quality of medical images by adjusting contrast, brightness, and sharpness, as well as removing noise and artifacts that may interfere with accurate diagnosis. Segmentation techniques can be used to isolate specific regions or structures of interest within an image, allowing for more detailed analysis.

Computer-assisted image processing has numerous applications in medical imaging, including detection and characterization of lesions, tumors, and other abnormalities; assessment of organ function and morphology; and guidance of interventional procedures such as biopsies and surgeries. By automating and standardizing image analysis tasks, computer-assisted image processing can help to improve diagnostic accuracy, efficiency, and consistency, while reducing the potential for human error.

Homeodomain proteins are a group of transcription factors that play crucial roles in the development and differentiation of cells in animals and plants. They are characterized by the presence of a highly conserved DNA-binding domain called the homeodomain, which is typically about 60 amino acids long. The homeodomain consists of three helices, with the third helix responsible for recognizing and binding to specific DNA sequences.

Homeodomain proteins are involved in regulating gene expression during embryonic development, tissue maintenance, and organismal growth. They can act as activators or repressors of transcription, depending on the context and the presence of cofactors. Mutations in homeodomain proteins have been associated with various human diseases, including cancer, congenital abnormalities, and neurological disorders.

Some examples of homeodomain proteins include PAX6, which is essential for eye development, HOX genes, which are involved in body patterning, and NANOG, which plays a role in maintaining pluripotency in stem cells.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Interneurons are a type of neuron that is located entirely within the central nervous system (CNS), including the brain and spinal cord. They are called "inter" neurons because they connect and communicate with other nearby neurons, forming complex networks within the CNS. Interneurons receive input from sensory neurons and/or other interneurons and then send output signals to motor neurons or other interneurons.

Interneurons are responsible for processing information and modulating neural circuits in the CNS. They can have either excitatory or inhibitory effects on their target neurons, depending on the type of neurotransmitters they release. Excitatory interneurons release neurotransmitters such as glutamate that increase the likelihood of an action potential in the postsynaptic neuron, while inhibitory interneurons release neurotransmitters such as GABA (gamma-aminobutyric acid) or glycine that decrease the likelihood of an action potential.

Interneurons are diverse and can be classified based on various criteria, including their morphology, electrophysiological properties, neurochemical characteristics, and connectivity patterns. They play crucial roles in many aspects of CNS function, such as sensory processing, motor control, cognition, and emotion regulation. Dysfunction or damage to interneurons has been implicated in various neurological and psychiatric disorders, including epilepsy, Parkinson's disease, schizophrenia, and autism spectrum disorder.

Musculoskeletal abnormalities refer to structural and functional disorders that affect the musculoskeletal system, which includes the bones, muscles, cartilages, tendons, ligaments, joints, and other related tissues. These abnormalities can result from genetic factors, trauma, overuse, degenerative processes, infections, or tumors. They may cause pain, stiffness, limited mobility, deformity, weakness, and susceptibility to injuries. Examples of musculoskeletal abnormalities include osteoarthritis, rheumatoid arthritis, scoliosis, kyphosis, lordosis, fractures, dislocations, tendinitis, bursitis, myopathies, and various congenital conditions.

A Vein of Galen Malformation (VOGM) is a rare type of congenital vascular anomaly, specifically an arteriovenous malformation (AVM), which affects the cerebral circulation. This complex tangle of abnormal blood vessels develops around or near the Vein of Galen, a fetal vessel that normally closes and transforms into a small venous structure in the brain after birth.

In VOGM, the Vein of Galen remains dilated due to the direct feeding from arteries, usually from the choroidal or cerebral arterial systems. This results in an abnormal connection (shunt) between the arterial and venous circulations, causing high-flow, high-pressure blood flow through the Vein of Galen and into the heart.

VOGMs can be classified as either "mascular" or "extracardiac," depending on whether they involve only the Vein of Galen (mascular) or if they also include other structures like the straight sinus, torcular Herophili, or other venous sinuses (extracardiac).

VOGMs can lead to various clinical presentations, including congestive heart failure, hydrocephalus, developmental delays, seizures, and neurological deficits. Symptoms may appear early in infancy or even prenatally, as the increased blood flow through the Vein of Galen puts a strain on the heart and can lead to high output cardiac failure.

Diagnosis is often made using imaging techniques such as ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), or angiography. Treatment options include endovascular embolization, surgical intervention, or a combination of both, depending on the severity and location of the malformation.

Dendrites are the branched projections of a neuron that receive and process signals from other neurons. They are typically short and highly branching, increasing the surface area for receiving incoming signals. Dendrites are covered in small protrusions called dendritic spines, which can form connections with the axon terminals of other neurons through chemical synapses. The structure and function of dendrites play a critical role in the integration and processing of information in the nervous system.

Cerebral veins are the blood vessels that carry deoxygenated blood from the brain to the dural venous sinuses, which are located between the layers of tissue covering the brain. The largest cerebral vein is the superior sagittal sinus, which runs along the top of the brain. Other major cerebral veins include the straight sinus, transverse sinus, sigmoid sinus, and cavernous sinus. These veins receive blood from smaller veins called venules that drain the surface and deep structures of the brain. The cerebral veins play an important role in maintaining normal circulation and pressure within the brain.

The somatosensory cortex is a part of the brain located in the postcentral gyrus of the parietal lobe, which is responsible for processing sensory information from the body. It receives and integrates tactile, proprioceptive, and thermoception inputs from the skin, muscles, joints, and internal organs, allowing us to perceive and interpret touch, pressure, pain, temperature, vibration, position, and movement of our body parts. The somatosensory cortex is organized in a map-like manner, known as the sensory homunculus, where each body part is represented according to its relative sensitivity and density of innervation. This organization allows for precise localization and discrimination of tactile stimuli across the body surface.

Congenital foot deformities refer to abnormal structural changes in the foot that are present at birth. These deformities can vary from mild to severe and may affect the shape, position, or function of one or both feet. Common examples include clubfoot (talipes equinovarus), congenital vertical talus, and cavus foot. Congenital foot deformities can be caused by genetic factors, environmental influences during fetal development, or a combination of both. Treatment options may include stretching, casting, surgery, or a combination of these approaches, depending on the severity and type of the deformity.

Brain mapping is a broad term that refers to the techniques used to understand the structure and function of the brain. It involves creating maps of the various cognitive, emotional, and behavioral processes in the brain by correlating these processes with physical locations or activities within the nervous system. Brain mapping can be accomplished through a variety of methods, including functional magnetic resonance imaging (fMRI), positron emission tomography (PET) scans, electroencephalography (EEG), and others. These techniques allow researchers to observe which areas of the brain are active during different tasks or thoughts, helping to shed light on how the brain processes information and contributes to our experiences and behaviors. Brain mapping is an important area of research in neuroscience, with potential applications in the diagnosis and treatment of neurological and psychiatric disorders.

Therapeutic embolization is a medical procedure that involves intentionally blocking or obstructing blood vessels to stop excessive bleeding or block the flow of blood to a tumor or abnormal tissue. This is typically accomplished by injecting small particles, such as microspheres or coils, into the targeted blood vessel through a catheter, which is inserted into a larger blood vessel and guided to the desired location using imaging techniques like X-ray or CT scanning. The goal of therapeutic embolization is to reduce the size of a tumor, control bleeding, or block off abnormal blood vessels that are causing problems.

Cardiovascular abnormalities refer to structural or functional anomalies in the heart or blood vessels. These abnormalities can be present at birth (congenital) or acquired later in life. They can affect the heart's chambers, valves, walls, or blood vessels, leading to various complications such as heart failure, stroke, or even death if left untreated.

Examples of congenital cardiovascular abnormalities include:

1. Septal defects - holes in the walls separating the heart's chambers (atrial septal defect, ventricular septal defect)
2. Valvular stenosis or insufficiency - narrowing or leakage of the heart valves
3. Patent ductus arteriosus - a persistent opening between the aorta and pulmonary artery
4. Coarctation of the aorta - narrowing of the aorta
5. Tetralogy of Fallot - a combination of four heart defects, including ventricular septal defect, overriding aorta, pulmonary stenosis, and right ventricular hypertrophy

Examples of acquired cardiovascular abnormalities include:

1. Atherosclerosis - the buildup of plaque in the arteries, leading to narrowing or blockage
2. Cardiomyopathy - disease of the heart muscle, causing it to become enlarged, thickened, or stiffened
3. Hypertension - high blood pressure, which can damage the heart and blood vessels over time
4. Myocardial infarction (heart attack) - damage to the heart muscle due to blocked blood supply
5. Infective endocarditis - infection of the inner lining of the heart chambers and valves

These abnormalities can be diagnosed through various tests, such as echocardiography, electrocardiogram (ECG), stress testing, cardiac catheterization, or magnetic resonance imaging (MRI). Treatment options depend on the type and severity of the abnormality and may include medications, medical procedures, or surgery.

Embryonic and fetal development is the process of growth and development that occurs from fertilization of the egg (conception) to birth. The terms "embryo" and "fetus" are used to describe different stages of this development:

* Embryonic development: This stage begins at fertilization and continues until the end of the 8th week of pregnancy. During this time, the fertilized egg (zygote) divides and forms a blastocyst, which implants in the uterus and begins to develop into a complex structure called an embryo. The embryo consists of three layers of cells that will eventually form all of the organs and tissues of the body. During this stage, the basic structures of the body, including the nervous system, heart, and gastrointestinal tract, begin to form.
* Fetal development: This stage begins at the end of the 8th week of pregnancy and continues until birth. During this time, the embryo is called a fetus, and it grows and develops rapidly. The organs and tissues that were formed during the embryonic stage continue to mature and become more complex. The fetus also begins to move and kick, and it can hear and respond to sounds from outside the womb.

Overall, embryonic and fetal development is a complex and highly regulated process that involves the coordinated growth and differentiation of cells and tissues. It is a critical period of development that lays the foundation for the health and well-being of the individual throughout their life.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

The digestive system is a complex series of organs and glands that process food. Abnormalities in the digestive system can refer to a wide range of conditions that affect any part of the system, including the esophagus, stomach, small intestine, large intestine, liver, pancreas, and gallbladder. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as infection, inflammation, injury, or disease.

Some examples of digestive system abnormalities include:

1. Gastroesophageal Reflux Disease (GERD): A condition where the stomach acid flows back into the esophagus, causing heartburn and damage to the esophageal lining.
2. Peptic Ulcers: Open sores that develop on the lining of the stomach or duodenum, often caused by bacterial infections or long-term use of nonsteroidal anti-inflammatory drugs (NSAIDs).
3. Inflammatory Bowel Disease (IBD): A group of chronic inflammatory conditions of the intestine, including Crohn's disease and ulcerative colitis.
4. Irritable Bowel Syndrome (IBS): A functional gastrointestinal disorder characterized by abdominal pain, bloating, and altered bowel habits.
5. Celiac Disease: An autoimmune disorder where the ingestion of gluten leads to damage in the small intestine.
6. Diverticulosis: The presence of small pouches or sacs that form on the lining of the intestine, which can become inflamed or infected (diverticulitis).
7. Hiatal Hernia: A condition where a portion of the stomach protrudes through the diaphragm into the chest cavity.
8. Hepatitis: Inflammation of the liver, often caused by viral infections or toxins.
9. Cirrhosis: A chronic liver disease characterized by scarring and loss of liver function, often due to long-term alcohol abuse or hepatitis.
10. Gallstones: Small, hard deposits that form in the gallbladder and can cause pain and inflammation.

These are just a few examples of gastrointestinal disorders, and there are many others. If you are experiencing symptoms such as abdominal pain, bloating, diarrhea, constipation, or difficulty swallowing, it is important to speak with your healthcare provider to determine the cause and develop an appropriate treatment plan.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

Teratogens are substances, such as certain medications, chemicals, or infectious agents, that can cause birth defects or abnormalities in the developing fetus when a woman is exposed to them during pregnancy. They can interfere with the normal development of the fetus and lead to a range of problems, including physical deformities, intellectual disabilities, and sensory impairments. Examples of teratogens include alcohol, tobacco smoke, some prescription medications, and infections like rubella (German measles). It is important for women who are pregnant or planning to become pregnant to avoid exposure to known teratogens as much as possible.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

Neuronal plasticity, also known as neuroplasticity or neural plasticity, refers to the ability of the brain and nervous system to change and adapt as a result of experience, learning, injury, or disease. This can involve changes in the structure, organization, and function of neurons (nerve cells) and their connections (synapses) in the central and peripheral nervous systems.

Neuronal plasticity can take many forms, including:

* Synaptic plasticity: Changes in the strength or efficiency of synaptic connections between neurons. This can involve the formation, elimination, or modification of synapses.
* Neural circuit plasticity: Changes in the organization and connectivity of neural circuits, which are networks of interconnected neurons that process information.
* Structural plasticity: Changes in the physical structure of neurons, such as the growth or retraction of dendrites (branches that receive input from other neurons) or axons (projections that transmit signals to other neurons).
* Functional plasticity: Changes in the physiological properties of neurons, such as their excitability, responsiveness, or sensitivity to stimuli.

Neuronal plasticity is a fundamental property of the nervous system and plays a crucial role in many aspects of brain function, including learning, memory, perception, and cognition. It also contributes to the brain's ability to recover from injury or disease, such as stroke or traumatic brain injury.

An axon is a long, slender extension of a neuron (a type of nerve cell) that conducts electrical impulses (nerve impulses) away from the cell body to target cells, such as other neurons or muscle cells. Axons can vary in length from a few micrometers to over a meter long and are typically surrounded by a myelin sheath, which helps to insulate and protect the axon and allows for faster transmission of nerve impulses.

Axons play a critical role in the functioning of the nervous system, as they provide the means by which neurons communicate with one another and with other cells in the body. Damage to axons can result in serious neurological problems, such as those seen in spinal cord injuries or neurodegenerative diseases like multiple sclerosis.

Aging is a complex, progressive and inevitable process of bodily changes over time, characterized by the accumulation of cellular damage and degenerative changes that eventually lead to increased vulnerability to disease and death. It involves various biological, genetic, environmental, and lifestyle factors that contribute to the decline in physical and mental functions. The medical field studies aging through the discipline of gerontology, which aims to understand the underlying mechanisms of aging and develop interventions to promote healthy aging and extend the human healthspan.

"Cell count" is a medical term that refers to the process of determining the number of cells present in a given volume or sample of fluid or tissue. This can be done through various laboratory methods, such as counting individual cells under a microscope using a specialized grid called a hemocytometer, or using automated cell counters that use light scattering and electrical impedance techniques to count and classify different types of cells.

Cell counts are used in a variety of medical contexts, including hematology (the study of blood and blood-forming tissues), microbiology (the study of microscopic organisms), and pathology (the study of diseases and their causes). For example, a complete blood count (CBC) is a routine laboratory test that includes a white blood cell (WBC) count, red blood cell (RBC) count, hemoglobin level, hematocrit value, and platelet count. Abnormal cell counts can indicate the presence of various medical conditions, such as infections, anemia, or leukemia.

Gamma-Aminobutyric Acid (GABA) is a major inhibitory neurotransmitter in the mammalian central nervous system. It plays a crucial role in regulating neuronal excitability and preventing excessive neuronal firing, which helps to maintain neural homeostasis and reduce the risk of seizures. GABA functions by binding to specific receptors (GABA-A, GABA-B, and GABA-C) on the postsynaptic membrane, leading to hyperpolarization of the neuronal membrane and reduced neurotransmitter release from presynaptic terminals.

In addition to its role in the central nervous system, GABA has also been identified as a neurotransmitter in the peripheral nervous system, where it is involved in regulating various physiological processes such as muscle relaxation, hormone secretion, and immune function.

GABA can be synthesized in neurons from glutamate, an excitatory neurotransmitter, through the action of the enzyme glutamic acid decarboxylase (GAD). Once synthesized, GABA is stored in synaptic vesicles and released into the synapse upon neuronal activation. After release, GABA can be taken up by surrounding glial cells or degraded by the enzyme GABA transaminase (GABA-T) into succinic semialdehyde, which is further metabolized to form succinate and enter the Krebs cycle for energy production.

Dysregulation of GABAergic neurotransmission has been implicated in various neurological and psychiatric disorders, including epilepsy, anxiety, depression, and sleep disturbances. Therefore, modulating GABAergic signaling through pharmacological interventions or other therapeutic approaches may offer potential benefits for the treatment of these conditions.

"Prenatal exposure delayed effects" refer to the adverse health outcomes or symptoms that become apparent in an individual during their development or later in life, which are caused by exposure to certain environmental factors or substances while they were still in the womb. These effects may not be immediately observable at birth and can take weeks, months, years, or even decades to manifest. They can result from maternal exposure to various agents such as infectious diseases, medications, illicit drugs, tobacco smoke, alcohol, or environmental pollutants during pregnancy. The delayed effects can impact multiple organ systems and may include physical, cognitive, behavioral, and developmental abnormalities. It is important to note that the risk and severity of these effects can depend on several factors, including the timing, duration, and intensity of the exposure, as well as the individual's genetic susceptibility.

Morphogenesis is a term used in developmental biology and refers to the process by which cells give rise to tissues and organs with specific shapes, structures, and patterns during embryonic development. This process involves complex interactions between genes, cells, and the extracellular environment that result in the coordinated movement and differentiation of cells into specialized functional units.

Morphogenesis is a dynamic and highly regulated process that involves several mechanisms, including cell proliferation, death, migration, adhesion, and differentiation. These processes are controlled by genetic programs and signaling pathways that respond to environmental cues and regulate the behavior of individual cells within a developing tissue or organ.

The study of morphogenesis is important for understanding how complex biological structures form during development and how these processes can go awry in disease states such as cancer, birth defects, and degenerative disorders.

'Cell lineage' is a term used in biology and medicine to describe the developmental history or relationship of a cell or group of cells to other cells, tracing back to the original progenitor or stem cell. It refers to the series of cell divisions and differentiation events that give rise to specific types of cells in an organism over time.

In simpler terms, cell lineage is like a family tree for cells, showing how they are related to each other through a chain of cell division and specialization events. This concept is important in understanding the development, growth, and maintenance of tissues and organs in living beings.

Three-dimensional (3D) imaging in medicine refers to the use of technologies and techniques that generate a 3D representation of internal body structures, organs, or tissues. This is achieved by acquiring and processing data from various imaging modalities such as X-ray computed tomography (CT), magnetic resonance imaging (MRI), ultrasound, or confocal microscopy. The resulting 3D images offer a more detailed visualization of the anatomy and pathology compared to traditional 2D imaging techniques, allowing for improved diagnostic accuracy, surgical planning, and minimally invasive interventions.

In 3D imaging, specialized software is used to reconstruct the acquired data into a volumetric model, which can be manipulated and viewed from different angles and perspectives. This enables healthcare professionals to better understand complex anatomical relationships, detect abnormalities, assess disease progression, and monitor treatment response. Common applications of 3D imaging include neuroimaging, orthopedic surgery planning, cancer staging, dental and maxillofacial reconstruction, and interventional radiology procedures.

Congenital hand deformities refer to physical abnormalities or malformations of the hand, wrist, and/or digits (fingers) that are present at birth. These deformities can result from genetic factors, environmental influences during pregnancy, or a combination of both. They may affect the bones, muscles, tendons, joints, and other structures in the hand, leading to varying degrees of impairment in function and appearance.

There are numerous types of congenital hand deformities, some of which include:

1. Polydactyly: The presence of extra digits on the hand, which can be fully formed or rudimentary.
2. Syndactyly: Webbing or fusion of two or more fingers, which may involve soft tissue only or bone as well.
3. Clinodactyly: A curved finger due to a sideways deviation of the fingertip, often affecting the little finger.
4. Camptodactyly: Permanent flexion or bending of one or more fingers, typically involving the proximal interphalangeal joint.
5. Trigger Finger/Thumb: A condition where a finger or thumb becomes locked in a bent position due to thickening and narrowing of the tendon sheath.
6. Radial Club Hand (Radial Ray Deficiency): Underdevelopment or absence of the radius bone, resulting in a short, curved forearm and hand deformity.
7. Ulnar Club Hand (Ulnar Ray Deficiency): Underdevelopment or absence of the ulna bone, leading to a short, curved forearm and hand deformity.
8. Cleidocranial Dysplasia: A genetic disorder affecting bone growth, resulting in underdeveloped or absent collarbones, dental abnormalities, and occasionally hand deformities.
9. Apert Syndrome: A rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and other skeletal abnormalities.
10. Holt-Oram Syndrome: A genetic disorder involving heart defects and upper limb deformities, such as radial ray deficiency or thumb anomalies.

Treatment for hand deformities varies depending on the specific condition and severity. Options may include physical therapy, bracing, splinting, medications, or surgical intervention.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

Neural pathways, also known as nerve tracts or fasciculi, refer to the highly organized and specialized routes through which nerve impulses travel within the nervous system. These pathways are formed by groups of neurons (nerve cells) that are connected in a series, creating a continuous communication network for electrical signals to transmit information between different regions of the brain, spinal cord, and peripheral nerves.

Neural pathways can be classified into two main types: sensory (afferent) and motor (efferent). Sensory neural pathways carry sensory information from various receptors in the body (such as those for touch, temperature, pain, and vision) to the brain for processing. Motor neural pathways, on the other hand, transmit signals from the brain to the muscles and glands, controlling movements and other effector functions.

The formation of these neural pathways is crucial for normal nervous system function, as it enables efficient communication between different parts of the body and allows for complex behaviors, cognitive processes, and adaptive responses to internal and external stimuli.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

Ectromelia is a medical term that refers to the congenital absence or malformation of a limb or extremity. It is also known as "congenital amputation" or "limb reduction defect." This condition can affect any extremity, including arms, legs, hands, or feet, and can range from mild, such as a missing finger or toe, to severe, such as the absence of an entire limb.

Ectromelia can be caused by various factors, including genetic mutations, environmental factors, or a combination of both. In some cases, the cause may be unknown. Treatment options for ectromelia depend on the severity and location of the malformation and may include prosthetics, physical therapy, or surgery.

Fetal diseases are medical conditions or abnormalities that affect a fetus during pregnancy. These diseases can be caused by genetic factors, environmental influences, or a combination of both. They can range from mild to severe and may impact various organ systems in the developing fetus. Examples of fetal diseases include congenital heart defects, neural tube defects, chromosomal abnormalities such as Down syndrome, and infectious diseases such as toxoplasmosis or rubella. Fetal diseases can be diagnosed through prenatal testing, including ultrasound, amniocentesis, and chorionic villus sampling. Treatment options may include medication, surgery, or delivery of the fetus, depending on the nature and severity of the disease.

The auditory cortex is the region of the brain that is responsible for processing and analyzing sounds, including speech. It is located in the temporal lobe of the cerebral cortex, specifically within the Heschl's gyrus and the surrounding areas. The auditory cortex receives input from the auditory nerve, which carries sound information from the inner ear to the brain.

The auditory cortex is divided into several subregions that are responsible for different aspects of sound processing, such as pitch, volume, and location. These regions work together to help us recognize and interpret sounds in our environment, allowing us to communicate with others and respond appropriately to our surroundings. Damage to the auditory cortex can result in hearing loss or difficulty understanding speech.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

A nerve net, also known as a neural net or neuronal network, is not a medical term per se, but rather a concept in neuroscience and artificial intelligence (AI). It refers to a complex network of interconnected neurons that process and transmit information. In the context of the human body, the nervous system can be thought of as a type of nerve net, with the brain and spinal cord serving as the central processing unit and peripheral nerves carrying signals to and from various parts of the body.

In the field of AI, artificial neural networks are computational models inspired by the structure and function of biological nerve nets. These models consist of interconnected nodes or "neurons" that process information and learn patterns through a process of training and adaptation. They have been used in a variety of applications, including image recognition, natural language processing, and machine learning.

Cell proliferation is the process by which cells increase in number, typically through the process of cell division. In the context of biology and medicine, it refers to the reproduction of cells that makes up living tissue, allowing growth, maintenance, and repair. It involves several stages including the transition from a phase of quiescence (G0 phase) to an active phase (G1 phase), DNA replication in the S phase, and mitosis or M phase, where the cell divides into two daughter cells.

Abnormal or uncontrolled cell proliferation is a characteristic feature of many diseases, including cancer, where deregulated cell cycle control leads to excessive and unregulated growth of cells, forming tumors that can invade surrounding tissues and metastasize to distant sites in the body.

Green Fluorescent Protein (GFP) is not a medical term per se, but a scientific term used in the field of molecular biology. GFP is a protein that exhibits bright green fluorescence when exposed to light, particularly blue or ultraviolet light. It was originally discovered in the jellyfish Aequorea victoria.

In medical and biological research, scientists often use recombinant DNA technology to introduce the gene for GFP into other organisms, including bacteria, plants, and animals, including humans. This allows them to track the expression and localization of specific genes or proteins of interest in living cells, tissues, or even whole organisms.

The ability to visualize specific cellular structures or processes in real-time has proven invaluable for a wide range of research areas, from studying the development and function of organs and organ systems to understanding the mechanisms of diseases and the effects of therapeutic interventions.

Eye proteins, also known as ocular proteins, are specific proteins that are found within the eye and play crucial roles in maintaining proper eye function and health. These proteins can be found in various parts of the eye, including the cornea, iris, lens, retina, and other structures. They perform a wide range of functions, such as:

1. Structural support: Proteins like collagen and elastin provide strength and flexibility to the eye's tissues, enabling them to maintain their shape and withstand mechanical stress.
2. Light absorption and transmission: Proteins like opsins and crystallins are involved in capturing and transmitting light signals within the eye, which is essential for vision.
3. Protection against damage: Some eye proteins, such as antioxidant enzymes and heat shock proteins, help protect the eye from oxidative stress, UV radiation, and other environmental factors that can cause damage.
4. Regulation of eye growth and development: Various growth factors and signaling molecules, which are protein-based, contribute to the proper growth, differentiation, and maintenance of eye tissues during embryonic development and throughout adulthood.
5. Immune defense: Proteins involved in the immune response, such as complement components and immunoglobulins, help protect the eye from infection and inflammation.
6. Maintenance of transparency: Crystallin proteins in the lens maintain its transparency, allowing light to pass through unobstructed for clear vision.
7. Neuroprotection: Certain eye proteins, like brain-derived neurotrophic factor (BDNF), support the survival and function of neurons within the retina, helping to preserve vision.

Dysfunction or damage to these eye proteins can contribute to various eye disorders and diseases, such as cataracts, age-related macular degeneration, glaucoma, diabetic retinopathy, and others.

Neurological models are simplified representations or simulations of various aspects of the nervous system, including its structure, function, and processes. These models can be theoretical, computational, or physical and are used to understand, explain, and predict neurological phenomena. They may focus on specific neurological diseases, disorders, or functions, such as memory, learning, or movement. The goal of these models is to provide insights into the complex workings of the nervous system that cannot be easily observed or understood through direct examination alone.

The hippocampus is a complex, curved formation in the brain that resembles a seahorse (hence its name, from the Greek word "hippos" meaning horse and "kampos" meaning sea monster). It's part of the limbic system and plays crucial roles in the formation of memories, particularly long-term ones.

This region is involved in spatial navigation and cognitive maps, allowing us to recognize locations and remember how to get to them. Additionally, it's one of the first areas affected by Alzheimer's disease, which often results in memory loss as an early symptom.

Anatomically, it consists of two main parts: the Ammon's horn (or cornu ammonis) and the dentate gyrus. These structures are made up of distinct types of neurons that contribute to different aspects of learning and memory.

The prefrontal cortex is the anterior (frontal) part of the frontal lobe in the brain, involved in higher-order cognitive processes such as planning complex cognitive behavior, personality expression, decision making, and moderating social behavior. It also plays a significant role in working memory and executive functions. The prefrontal cortex is divided into several subregions, each associated with specific cognitive and emotional functions. Damage to the prefrontal cortex can result in various impairments, including difficulties with planning, decision making, and social behavior regulation.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Tubulin is a type of protein that forms microtubules, which are hollow cylindrical structures involved in the cell's cytoskeleton. These structures play important roles in various cellular processes, including maintaining cell shape, cell division, and intracellular transport. There are two main types of tubulin proteins: alpha-tubulin and beta-tubulin. They polymerize to form heterodimers, which then assemble into microtubules. The assembly and disassembly of microtubules are dynamic processes that are regulated by various factors, including GTP hydrolysis, motor proteins, and microtubule-associated proteins (MAPs). Tubulin is an essential component of the eukaryotic cell and has been a target for anti-cancer drugs such as taxanes and vinca alkaloids.

Radiation-induced abnormalities refer to changes in tissues, organs, or bodily functions that are caused by exposure to radiation. These abnormalities can occur as a result of therapeutic radiation used in cancer treatment or from exposure to high levels of ionizing radiation in diagnostic procedures or environmental settings.

The severity and type of radiation-induced abnormalities depend on several factors, including the dose and duration of radiation exposure, the part of the body that was exposed, and the individual's sensitivity to radiation. Some common radiation-induced abnormalities include:

1. Radiation sickness: This is a set of symptoms that occur after exposure to high levels of ionizing radiation. Symptoms can include nausea, vomiting, diarrhea, fatigue, and fever.
2. Skin damage: Radiation can cause skin redness, blistering, and peeling, especially in areas where the radiation was focused.
3. Cataracts: Exposure to high levels of radiation can cause cataracts, which are cloudy areas that develop in the lens of the eye.
4. Infertility: Radiation exposure can damage the reproductive organs and lead to infertility in both men and women.
5. Increased risk of cancer: Exposure to radiation can increase the risk of developing certain types of cancer, such as leukemia and thyroid cancer.
6. Damage to the nervous system: High levels of radiation exposure can cause damage to the nervous system, leading to symptoms such as headaches, seizures, and confusion.
7. Genetic mutations: Radiation exposure can cause genetic mutations that can be passed down to future generations.

It is important to note that the risk of developing radiation-induced abnormalities depends on many factors, including the dose and duration of radiation exposure, the individual's sensitivity to radiation, and their overall health status. If you have concerns about radiation exposure or radiation-induced abnormalities, it is best to speak with a healthcare professional.

Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.

Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).

Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.

Lymphatic abnormalities refer to conditions or defects that affect the lymphatic system, which is a part of the immune and circulatory systems. The lymphatic system includes a network of vessels, tissues, and organs that help rid the body of waste and toxins, fight infections, and maintain fluid balance.

Lymphatic abnormalities can occur due to genetic mutations, infections, inflammation, or cancer. These abnormalities may affect various components of the lymphatic system, including:

1. Lymph vessels: Abnormalities in lymph vessels can lead to a buildup of lymph fluid in certain parts of the body, causing swelling known as lymphedema.
2. Lymph nodes: Enlarged or abnormally shaped lymph nodes (lymphadenopathy) may indicate an infection, inflammation, or cancer.
3. Spleen: An enlarged spleen (splenomegaly) can be a sign of various conditions, such as infections, blood disorders, or cancer.
4. Thymus: Abnormalities in the thymus gland, which is part of the immune system, can lead to immunodeficiency disorders.
5. Tonsils and adenoids: Enlarged tonsils and adenoids can cause breathing and swallowing difficulties, especially in children.
6. Aggregated lymphatic tissue: Abnormalities in aggregated lymphatic tissue, such as Peyer's patches in the small intestine or the appendix, can increase the risk of infections and autoimmune disorders.

Lymphatic abnormalities can present with various symptoms, including swelling, pain, recurrent infections, and fatigue. Treatment depends on the underlying cause and may involve medications, surgery, or lifestyle changes.

Medical Definition:
Microtubule-associated proteins (MAPs) are a diverse group of proteins that bind to microtubules, which are key components of the cytoskeleton in eukaryotic cells. MAPs play crucial roles in regulating microtubule dynamics and stability, as well as in mediating interactions between microtubules and other cellular structures. They can be classified into several categories based on their functions, including:

1. Microtubule stabilizers: These MAPs promote the assembly of microtubules and protect them from disassembly by enhancing their stability. Examples include tau proteins and MAP2.
2. Microtubule dynamics regulators: These MAPs modulate the rate of microtubule polymerization and depolymerization, allowing for dynamic reorganization of the cytoskeleton during cell division and other processes. Examples include stathmin and XMAP215.
3. Microtubule motor proteins: These MAPs use energy from ATP hydrolysis to move along microtubules, transporting various cargoes within the cell. Examples include kinesin and dynein.
4. Adapter proteins: These MAPs facilitate interactions between microtubules and other cellular structures, such as membranes, organelles, or signaling molecules. Examples include MAP4 and CLASPs.

Dysregulation of MAPs has been implicated in several diseases, including neurodegenerative disorders like Alzheimer's disease (where tau proteins form abnormal aggregates called neurofibrillary tangles) and cancer (where altered microtubule dynamics can contribute to uncontrolled cell division).

I apologize for any confusion, but "Enbucrilate" is not a medical term or a medication that I am aware of. It's possible that there might be some misunderstanding or misspelling in the term. If you have more context or information about where this term came from, I may be able to provide a more accurate and helpful response.

However, if you are referring to "bucrilate" which is a type of polymer used in some medical applications such as wound dressings, then it is a substance that can absorb large amounts of water and create a gel-like barrier between the wound and the outside environment, helping to keep the wound moist and promote healing.

If you have any further questions or concerns, please don't hesitate to ask.

Holoprosencephaly is a congenital brain malformation that occurs due to the failure of the prosencephalon (the forebrain) to properly divide into the two hemispheres during embryonic development. This condition can vary in severity, from mild anomalies to severe neurological defects and facial abnormalities.

There are four primary types of holoprosencephaly: alobar, semilobar, lobar, and middle interhemispheric variant (MIV). Alobar holoprosencephaly is the most severe form, where the forebrain fails to divide into separate hemispheres, and there is a single ventricle instead of two. Semilobar holoprosencephaly has some separation of the hemispheres but not completely. Lobar holoprosencephaly shows more separation of the hemispheres, with a more typical appearance of the cerebral cortex. MIV is the mildest form and involves an abnormal development of the corpus callosum and third ventricle.

Facial anomalies often accompany holoprosencephaly, such as a single central eye (cyclopia), closely spaced eyes (hypotelorism), a proboscis above the nose, or a flat nasal bridge with a median cleft lip and palate. The severity of these facial abnormalities can correlate with the degree of brain malformation.

Holoprosencephaly is caused by genetic mutations, chromosomal abnormalities, or environmental factors that disrupt normal embryonic development. It affects approximately 1 in 250 conceptuses but has a lower prevalence at birth due to early pregnancy loss. The condition can be diagnosed through prenatal ultrasound, fetal MRI, or postnatal imaging techniques such as CT or MRI scans. Management of holoprosencephaly involves multidisciplinary care, addressing neurological, developmental, and medical needs.

Sprague-Dawley rats are a strain of albino laboratory rats that are widely used in scientific research. They were first developed by researchers H.H. Sprague and R.C. Dawley in the early 20th century, and have since become one of the most commonly used rat strains in biomedical research due to their relatively large size, ease of handling, and consistent genetic background.

Sprague-Dawley rats are outbred, which means that they are genetically diverse and do not suffer from the same limitations as inbred strains, which can have reduced fertility and increased susceptibility to certain diseases. They are also characterized by their docile nature and low levels of aggression, making them easier to handle and study than some other rat strains.

These rats are used in a wide variety of research areas, including toxicology, pharmacology, nutrition, cancer, and behavioral studies. Because they are genetically diverse, Sprague-Dawley rats can be used to model a range of human diseases and conditions, making them an important tool in the development of new drugs and therapies.

Anencephaly is a serious birth defect that affects the neural tube, which is the structure that develops into the brain and spinal cord. In anencephaly, the neural tube fails to close properly during fetal development, resulting in the absence of a major portion of the brain, skull, and scalp.

Anencephaly is typically diagnosed through prenatal ultrasound or other imaging tests. Unfortunately, it is a fatal condition, and most babies with anencephaly do not survive birth or live for more than a few hours or days after birth.

The exact cause of anencephaly is not fully understood, but it is believed to be related to genetic factors as well as environmental influences such as folic acid deficiency and exposure to certain medications or chemicals during pregnancy. Pregnant women are often advised to take folic acid supplements to reduce the risk of neural tube defects, including anencephaly.

A cavernous hemangioma is a type of benign vascular tumor that is made up of large, dilated blood vessels. It is characterized by the presence of large, "cavernous" spaces or sacs filled with blood. These lesions can occur in various parts of the body, but when they occur in the skin or mucous membranes, they appear as well-circumscribed rubbery masses that are compressible and blanchable (turn pale when pressed).

Cavernous hemangiomas are most commonly found on the face and neck, but they can also occur in other parts of the body such as the liver. They typically grow slowly during infancy or early childhood and then stabilize or even regress spontaneously over time. However, if they are located in critical areas such as the airway or near vital organs, they may require treatment to prevent complications.

Histologically, cavernous hemangiomas are composed of large, irregularly shaped vascular spaces lined by a single layer of endothelial cells and surrounded by fibrous tissue. Treatment options for cavernous hemangiomas include observation, compression therapy, laser therapy, surgical excision, or embolization.

Fetal death, also known as stillbirth or intrauterine fetal demise, is defined as the death of a fetus at 20 weeks of gestation or later. The criteria for defining fetal death may vary slightly by country and jurisdiction, but in general, it refers to the loss of a pregnancy after the point at which the fetus is considered viable outside the womb.

Fetal death can occur for a variety of reasons, including chromosomal abnormalities, placental problems, maternal health conditions, infections, and umbilical cord accidents. In some cases, the cause of fetal death may remain unknown.

The diagnosis of fetal death is typically made through ultrasound or other imaging tests, which can confirm the absence of a heartbeat or movement in the fetus. Once fetal death has been diagnosed, medical professionals will work with the parents to determine the best course of action for managing the pregnancy and delivering the fetus. This may involve waiting for labor to begin naturally, inducing labor, or performing a cesarean delivery.

Experiencing a fetal death can be a very difficult and emotional experience for parents, and it is important for them to receive supportive care from their healthcare providers, family members, and friends. Grief counseling and support groups may also be helpful in coping with the loss.

An Encephalocele is a type of neural tube defect that occurs when the bones of the skull do not close completely during fetal development. This results in a sac-like protrusion of the brain and the membranes that cover it through an opening in the skull. The sac may be visible on the scalp, forehead, or back of the head, and can vary in size. Encephaloceles can cause a range of symptoms, including developmental delays, intellectual disabilities, vision problems, and seizures, depending on the severity and location of the defect. Treatment typically involves surgical repair of the encephalocele soon after birth to prevent further damage to the brain and improve outcomes.

The posterior cranial fossa is a term used in anatomy to refer to the portion of the skull that forms the lower, back part of the cranial cavity. It is located between the occipital bone and the temporal bones, and it contains several important structures including the cerebellum, pons, medulla oblongata, and the lower cranial nerves (IX-XII). The posterior fossa also contains the foramen magnum, which is a large opening through which the spinal cord connects to the brainstem. This region of the skull is protected by the occipital bone, which forms the base of the skull and provides attachment for several neck muscles.

Repressor proteins are a type of regulatory protein in molecular biology that suppress the transcription of specific genes into messenger RNA (mRNA) by binding to DNA. They function as part of gene regulation processes, often working in conjunction with an operator region and a promoter region within the DNA molecule. Repressor proteins can be activated or deactivated by various signals, allowing for precise control over gene expression in response to changing cellular conditions.

There are two main types of repressor proteins:

1. DNA-binding repressors: These directly bind to specific DNA sequences (operator regions) near the target gene and prevent RNA polymerase from transcribing the gene into mRNA.
2. Allosteric repressors: These bind to effector molecules, which then cause a conformational change in the repressor protein, enabling it to bind to DNA and inhibit transcription.

Repressor proteins play crucial roles in various biological processes, such as development, metabolism, and stress response, by controlling gene expression patterns in cells.

Neural Tube Defects (NTDs) are a group of birth defects that affect the brain, spine, or spinal cord. They occur when the neural tube, which forms the early brain and spinal cord of the embryo, does not close properly during fetal development. This can result in various conditions such as:

1. Anencephaly: a severe defect where most of the brain and skull are missing. Infants with anencephaly are usually stillborn or die shortly after birth.
2. Spina bifida: a condition where the spine does not close properly, leaving a portion of the spinal cord and nerves exposed. This can result in various neurological problems, including paralysis, bladder and bowel dysfunction, and hydrocephalus (fluid buildup in the brain).
3. Encephalocele: a condition where the skull does not close properly, allowing the brain to protrude through an opening in the skull. This can result in various neurological problems, including developmental delays, vision and hearing impairments, and seizures.

NTDs are thought to be caused by a combination of genetic and environmental factors, such as folic acid deficiency, obesity, diabetes, and exposure to certain medications during pregnancy. Folic acid supplementation before and during early pregnancy has been shown to reduce the risk of NTDs.

Bronchopulmonary sequestration is a rare birth defect of the lungs, in which a mass of abnormal lung tissue develops that doesn't function and isn't connected to the tracheobronchial tree (the airways that lead to the lungs). This means that the abnormal tissue receives its blood supply from an anomalous systemic artery instead of the normal pulmonary circulation. The mass may be located within the lung (intralobar sequestration) or outside the lung (extralobar sequestration), and it can occur on either side of the chest.

Intralobar sequestrations are more common than extralobar sequestrations, accounting for about 75% of cases. They are usually found in adults and are located within a normal lung tissue. Extralobar sequestrations, on the other hand, are typically detected earlier in life (often as an incidental finding during prenatal ultrasound) and are surrounded by their own pleural lining, which can make them appear separate from the normal lung tissue.

Symptoms of bronchopulmonary sequestration may include recurrent respiratory infections, coughing up blood (hemoptysis), shortness of breath, or chest pain. Treatment usually involves surgical removal of the abnormal tissue to prevent complications such as infection, bleeding, or the development of malignancy.

Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare and complex congenital vascular disorder that affects the development of blood vessels, soft tissues, and bones. It is also known as Klippel-Trenaunay syndrome or KTS.

The medical definition of KTWS includes the following features:
1. Port-wine stain (capillary malformation): A red or purple birthmark caused by an abnormal collection of blood vessels in the skin, often present at birth and usually affecting one limb or part of the body.
2. Venous and lymphatic abnormalities: Varicose veins, dilated veins, or abnormal vein patterns may be present, along with lymphatic malformations that can cause swelling in the affected area.
3. Soft tissue and bone hypertrophy: Overgrowth of soft tissues and bones in the affected limb or region, leading to asymmetry and sometimes functional impairment.
4. Other possible features: May include skin abnormalities, such as increased hair growth or changes in texture; joint deformities; and orthopedic problems, like scoliosis or hip dysplasia.

It is important to note that the severity of KTWS can vary significantly from person to person, ranging from mild symptoms to severe cases with significant functional impairment. The condition is not typically life-threatening but may require ongoing medical management and surveillance to address potential complications, such as infections, bleeding, or deep vein thrombosis.

Pyramidal cells, also known as pyramidal neurons, are a type of multipolar neuron found in the cerebral cortex and hippocampus of the brain. They have a characteristic triangular or pyramid-like shape with a single apical dendrite that extends from the apex of the cell body towards the pial surface, and multiple basal dendrites that branch out from the base of the cell body.

Pyramidal cells are excitatory neurons that play a crucial role in information processing and transmission within the brain. They receive inputs from various sources, including other neurons and sensory receptors, and generate action potentials that are transmitted to other neurons through their axons. The apical dendrite of pyramidal cells receives inputs from distant cortical areas, while the basal dendrites receive inputs from local circuits.

Pyramidal cells are named after their pyramid-like shape and are among the largest neurons in the brain. They are involved in various cognitive functions, including learning, memory, attention, and perception. Dysfunction of pyramidal cells has been implicated in several neurological disorders, such as Alzheimer's disease, epilepsy, and schizophrenia.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Astrocytes are a type of star-shaped glial cell found in the central nervous system (CNS), including the brain and spinal cord. They play crucial roles in supporting and maintaining the health and function of neurons, which are the primary cells responsible for transmitting information in the CNS.

Some of the essential functions of astrocytes include:

1. Supporting neuronal structure and function: Astrocytes provide structural support to neurons by ensheathing them and maintaining the integrity of the blood-brain barrier, which helps regulate the entry and exit of substances into the CNS.
2. Regulating neurotransmitter levels: Astrocytes help control the levels of neurotransmitters in the synaptic cleft (the space between two neurons) by taking up excess neurotransmitters and breaking them down, thus preventing excessive or prolonged activation of neuronal receptors.
3. Providing nutrients to neurons: Astrocytes help supply energy metabolites, such as lactate, to neurons, which are essential for their survival and function.
4. Modulating synaptic activity: Through the release of various signaling molecules, astrocytes can modulate synaptic strength and plasticity, contributing to learning and memory processes.
5. Participating in immune responses: Astrocytes can respond to CNS injuries or infections by releasing pro-inflammatory cytokines and chemokines, which help recruit immune cells to the site of injury or infection.
6. Promoting neuronal survival and repair: In response to injury or disease, astrocytes can become reactive and undergo morphological changes that aid in forming a glial scar, which helps contain damage and promote tissue repair. Additionally, they release growth factors and other molecules that support the survival and regeneration of injured neurons.

Dysfunction or damage to astrocytes has been implicated in several neurological disorders, including Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS).

Prenatal ultrasonography, also known as obstetric ultrasound, is a medical diagnostic procedure that uses high-frequency sound waves to create images of the developing fetus, placenta, and amniotic fluid inside the uterus. It is a non-invasive and painless test that is widely used during pregnancy to monitor the growth and development of the fetus, detect any potential abnormalities or complications, and determine the due date.

During the procedure, a transducer (a small handheld device) is placed on the mother's abdomen and moved around to capture images from different angles. The sound waves travel through the mother's body and bounce back off the fetus, producing echoes that are then converted into electrical signals and displayed as images on a screen.

Prenatal ultrasonography can be performed at various stages of pregnancy, including early pregnancy to confirm the pregnancy and detect the number of fetuses, mid-pregnancy to assess the growth and development of the fetus, and late pregnancy to evaluate the position of the fetus and determine if it is head down or breech. It can also be used to guide invasive procedures such as amniocentesis or chorionic villus sampling.

Overall, prenatal ultrasonography is a valuable tool in modern obstetrics that helps ensure the health and well-being of both the mother and the developing fetus.

Organ culture techniques refer to the methods used to maintain or grow intact organs or pieces of organs under controlled conditions in vitro, while preserving their structural and functional characteristics. These techniques are widely used in biomedical research to study organ physiology, pathophysiology, drug development, and toxicity testing.

Organ culture can be performed using a variety of methods, including:

1. Static organ culture: In this method, the organs or tissue pieces are placed on a porous support in a culture dish and maintained in a nutrient-rich medium. The medium is replaced periodically to ensure adequate nutrition and removal of waste products.
2. Perfusion organ culture: This method involves perfusing the organ with nutrient-rich media, allowing for better distribution of nutrients and oxygen throughout the tissue. This technique is particularly useful for studying larger organs such as the liver or kidney.
3. Microfluidic organ culture: In this approach, microfluidic devices are used to create a controlled microenvironment for organ cultures. These devices allow for precise control over the flow of nutrients and waste products, as well as the application of mechanical forces.

Organ culture techniques can be used to study various aspects of organ function, including metabolism, secretion, and response to drugs or toxins. Additionally, these methods can be used to generate three-dimensional tissue models that better recapitulate the structure and function of intact organs compared to traditional two-dimensional cell cultures.

Platybasia is a medical term that refers to a condition where the base of the skull is flattened or broadened, resulting in an abnormal increase in the angle between the clivus (a part of the sphenoid bone) and the posterior aspect of the upper surface of the palatine bone. This condition can be congenital or acquired and is often associated with other skeletal abnormalities. In some cases, platybasia may lead to neurological symptoms such as headaches, neck pain, or even brainstem compression.

Spinal dysraphism is a broad term used to describe a group of congenital malformations of the spine and spinal cord. These defects occur during embryonic development when the neural tube, which eventually forms the brain and spinal cord, fails to close properly. This results in an incomplete development or formation of the spinal cord and/or vertebral column.

There are two main categories of spinal dysraphism: open (also called exposed or overt) and closed (also called hidden or occult). Open spinal dysraphisms, such as myelomeningocele and myelocele, involve exposure of the spinal cord and/or its coverings through an opening in the back. Closed spinal dysraphisms, such as lipomyelomeningocele, tethered cord syndrome, and diastematomyelia, are more subtle and may not be visibly apparent at birth.

Symptoms of spinal dysraphism can vary widely depending on the type and severity of the defect. They may include motor and sensory impairments, bowel and bladder dysfunction, orthopedic deformities, and increased risk for neurological complications such as hydrocephalus (accumulation of fluid in the brain). Early diagnosis and intervention are crucial to optimize outcomes and minimize potential complications.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

The foramen magnum is the largest opening in the human skull, located at the base of the skull, through which the spinal cord connects to the brain. It is a crucial structure for the transmission of nerve impulses between the brain and the rest of the body. The foramen magnum also provides passage for blood vessels that supply the brainstem and upper spinal cord.

An arteriovenous fistula is an abnormal connection or passageway between an artery and a vein. This connection causes blood to flow directly from the artery into the vein, bypassing the capillary network that would normally distribute the oxygen-rich blood to the surrounding tissues.

Arteriovenous fistulas can occur as a result of trauma, disease, or as a planned surgical procedure for patients who require hemodialysis, a treatment for advanced kidney failure. In hemodialysis, the arteriovenous fistula serves as a site for repeated access to the bloodstream, allowing for efficient removal of waste products and excess fluids.

The medical definition of an arteriovenous fistula is:

"An abnormal communication between an artery and a vein, usually created by surgical means for hemodialysis access or occurring as a result of trauma, congenital defects, or disease processes such as vasculitis or neoplasm."

The anal canal is the terminal portion of the digestive tract, located between the rectum and the anus. It is a short tube-like structure that is about 1 to 1.5 inches long in adults. The main function of the anal canal is to provide a seal for the elimination of feces from the body while also preventing the leakage of intestinal contents.

The inner lining of the anal canal is called the mucosa, which is kept moist by the production of mucus. The walls of the anal canal contain specialized muscles that help control the passage of stool during bowel movements. These muscles include the internal and external sphincters, which work together to maintain continence and allow for the voluntary release of feces.

The anal canal is an important part of the digestive system and plays a critical role in maintaining bowel function and overall health.

Syndactyly is a congenital condition where two or more digits (fingers or toes) are fused together. It can occur in either the hand or foot, and it can involve fingers or toes on both sides of the hand or foot. The fusion can be partial, where only the skin is connected, or complete, where the bones are also connected. Syndactyly is usually noticed at birth and can be associated with other genetic conditions or syndromes. Surgical intervention may be required to separate the digits and improve function and appearance.

Cleft palate is a congenital birth defect that affects the roof of the mouth (palate). It occurs when the tissues that form the palate do not fuse together properly during fetal development, resulting in an opening or split in the palate. This can range from a small cleft at the back of the soft palate to a complete cleft that extends through the hard and soft palates, and sometimes into the nasal cavity.

A cleft palate can cause various problems such as difficulty with feeding, speaking, hearing, and ear infections. It may also affect the appearance of the face and mouth. Treatment typically involves surgical repair of the cleft palate, often performed during infancy or early childhood. Speech therapy, dental care, and other supportive treatments may also be necessary to address related issues.

Sclerotherapy is a medical procedure used to treat varicose veins and spider veins. It involves the injection of a solution (called a sclerosant) directly into the affected vein, which causes the vein to collapse and eventually fade away. The sclerosant works by irritating the lining of the vein, causing it to swell and stick together, which then leads to clotting and the eventual reabsorption of the vein by the body.

The procedure is typically performed in a doctor's office or outpatient setting and may require multiple sessions depending on the severity and number of veins being treated. Common side effects include bruising, swelling, and discomfort at the injection site, as well as the possibility of developing brownish pigmentation or small ulcers near the treatment area. However, these side effects are usually temporary and resolve on their own within a few weeks.

Sclerotherapy is considered a safe and effective treatment for varicose veins and spider veins, with high success rates and low complication rates. It is important to note that while sclerotherapy can improve the appearance of affected veins, it does not prevent new veins from developing in the future.

Western blotting is a laboratory technique used in molecular biology to detect and quantify specific proteins in a mixture of many different proteins. This technique is commonly used to confirm the expression of a protein of interest, determine its size, and investigate its post-translational modifications. The name "Western" blotting distinguishes this technique from Southern blotting (for DNA) and Northern blotting (for RNA).

The Western blotting procedure involves several steps:

1. Protein extraction: The sample containing the proteins of interest is first extracted, often by breaking open cells or tissues and using a buffer to extract the proteins.
2. Separation of proteins by electrophoresis: The extracted proteins are then separated based on their size by loading them onto a polyacrylamide gel and running an electric current through the gel (a process called sodium dodecyl sulfate-polyacrylamide gel electrophoresis or SDS-PAGE). This separates the proteins according to their molecular weight, with smaller proteins migrating faster than larger ones.
3. Transfer of proteins to a membrane: After separation, the proteins are transferred from the gel onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric current in a process called blotting. This creates a replica of the protein pattern on the gel but now immobilized on the membrane for further analysis.
4. Blocking: The membrane is then blocked with a blocking agent, such as non-fat dry milk or bovine serum albumin (BSA), to prevent non-specific binding of antibodies in subsequent steps.
5. Primary antibody incubation: A primary antibody that specifically recognizes the protein of interest is added and allowed to bind to its target protein on the membrane. This step may be performed at room temperature or 4°C overnight, depending on the antibody's properties.
6. Washing: The membrane is washed with a buffer to remove unbound primary antibodies.
7. Secondary antibody incubation: A secondary antibody that recognizes the primary antibody (often coupled to an enzyme or fluorophore) is added and allowed to bind to the primary antibody. This step may involve using a horseradish peroxidase (HRP)-conjugated or alkaline phosphatase (AP)-conjugated secondary antibody, depending on the detection method used later.
8. Washing: The membrane is washed again to remove unbound secondary antibodies.
9. Detection: A detection reagent is added to visualize the protein of interest by detecting the signal generated from the enzyme-conjugated or fluorophore-conjugated secondary antibody. This can be done using chemiluminescent, colorimetric, or fluorescent methods.
10. Analysis: The resulting image is analyzed to determine the presence and quantity of the protein of interest in the sample.

Western blotting is a powerful technique for identifying and quantifying specific proteins within complex mixtures. It can be used to study protein expression, post-translational modifications, protein-protein interactions, and more. However, it requires careful optimization and validation to ensure accurate and reproducible results.

Meningomyelocele is a type of neural tube defect that affects the development of the spinal cord and the surrounding membranes known as meninges. In this condition, a portion of the spinal cord and meninges protrude through an opening in the spine, creating a sac-like structure on the back. This sac is usually covered by skin, but it may be open in some cases.

Meningomyelocele can result in various neurological deficits, including muscle weakness, paralysis, and loss of sensation below the level of the lesion. It can also cause bladder and bowel dysfunction, as well as problems with sexual function. The severity of these symptoms depends on the location and extent of the spinal cord defect.

Early diagnosis and treatment are crucial for managing meningomyelocele and preventing further complications. Treatment typically involves surgical closure of the opening in the spine to protect the spinal cord and prevent infection. Physical therapy, occupational therapy, and other supportive care measures may also be necessary to help individuals with meningomyelocele achieve their full potential for mobility and independence.

Glutamic acid is an alpha-amino acid, which is one of the 20 standard amino acids in the genetic code. The systematic name for this amino acid is (2S)-2-Aminopentanedioic acid. Its chemical formula is HO2CCH(NH2)CH2CH2CO2H.

Glutamic acid is a crucial excitatory neurotransmitter in the human brain, and it plays an essential role in learning and memory. It's also involved in the metabolism of sugars and amino acids, the synthesis of proteins, and the removal of waste nitrogen from the body.

Glutamic acid can be found in various foods such as meat, fish, beans, eggs, dairy products, and vegetables. In the human body, glutamic acid can be converted into gamma-aminobutyric acid (GABA), another important neurotransmitter that has a calming effect on the nervous system.

N-Methyl-D-Aspartate (NMDA) receptors are a type of ionotropic glutamate receptor, which are found in the membranes of excitatory neurons in the central nervous system. They play a crucial role in synaptic plasticity, learning, and memory processes. NMDA receptors are ligand-gated channels that are permeable to calcium ions (Ca2+) and other cations.

NMDA receptors are composed of four subunits, which can be a combination of NR1, NR2A-D, and NR3A-B subunits. The binding of the neurotransmitter glutamate to the NR2 subunit and glycine to the NR1 subunit leads to the opening of the ion channel and the influx of Ca2+ ions.

NMDA receptors have a unique property in that they require both agonist binding and membrane depolarization for full activation, making them sensitive to changes in the electrical activity of the neuron. This property allows NMDA receptors to act as coincidence detectors, playing a critical role in synaptic plasticity and learning.

Abnormal functioning of NMDA receptors has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, epilepsy, and chronic pain. Therefore, NMDA receptors are a common target for drug development in the treatment of these conditions.

Mouth abnormalities, also known as oral or orofacial anomalies, refer to structural or functional differences or defects in the mouth and surrounding structures, including the lips, teeth, gums, palate, tongue, and salivary glands. These abnormalities can be present at birth (congenital) or acquired later in life due to injury, disease, or surgery. They can range from minor variations in size, shape, or position of oral structures to more significant anomalies that may affect speech, swallowing, chewing, breathing, and overall quality of life.

Examples of mouth abnormalities include cleft lip and palate, macroglossia (enlarged tongue), microglossia (small tongue), ankyloglossia (tongue-tie), high or narrow palate, bifid uvula (split uvula), dental malocclusion (misaligned teeth), supernumerary teeth (extra teeth), missing teeth, and various oral tumors or cysts. Some mouth abnormalities may require medical intervention, such as surgery, orthodontic treatment, or speech therapy, while others may not necessitate any treatment.

Pregnancy outcome refers to the final result or status of a pregnancy, including both the health of the mother and the newborn baby. It can be categorized into various types such as:

1. Live birth: The delivery of one or more babies who show signs of life after separation from their mother.
2. Stillbirth: The delivery of a baby who has died in the womb after 20 weeks of pregnancy.
3. Miscarriage: The spontaneous loss of a pregnancy before the 20th week.
4. Abortion: The intentional termination of a pregnancy before the fetus can survive outside the uterus.
5. Ectopic pregnancy: A pregnancy that develops outside the uterus, usually in the fallopian tube, which is not viable and requires medical attention.
6. Preterm birth: The delivery of a baby before 37 weeks of gestation, which can lead to various health issues for the newborn.
7. Full-term birth: The delivery of a baby between 37 and 42 weeks of gestation.
8. Post-term pregnancy: The delivery of a baby after 42 weeks of gestation, which may increase the risk of complications for both mother and baby.

The pregnancy outcome is influenced by various factors such as maternal age, health status, lifestyle habits, genetic factors, and access to quality prenatal care.

Hypospadias is a congenital condition in males where the urethral opening (meatus), which is the end of the urethra through which urine exits, is not located at the tip of the penis but instead appears on the underside of the penis. The severity of hypospadias can vary, with some cases having the meatus located closer to the tip and others further down on the shaft or even at the scrotum or perineum (the area between the scrotum and the anus). This condition affects about 1 in every 200-250 male newborns. The exact cause of hypospadias is not fully understood, but it's believed to be a combination of genetic and environmental factors. Surgical correction is usually recommended during infancy or early childhood to prevent complications such as difficulty urinating while standing, problems with sexual function, and psychological issues related to body image.

A hemangioma is a benign (noncancerous) vascular tumor or growth that originates from blood vessels. It is characterized by an overgrowth of endothelial cells, which line the interior surface of blood vessels. Hemangiomas can occur in various parts of the body, but they are most commonly found on the skin and mucous membranes.

Hemangiomas can be classified into two main types:

1. Capillary hemangioma (also known as strawberry hemangioma): This type is more common and typically appears during the first few weeks of life. It grows rapidly for several months before gradually involuting (or shrinking) on its own, usually within the first 5 years of life. Capillary hemangiomas can be superficial, appearing as a bright red, raised lesion on the skin, or deep, forming a bluish, compressible mass beneath the skin.

2. Cavernous hemangioma: This type is less common and typically appears during infancy or early childhood. It consists of large, dilated blood vessels and can occur in various organs, including the skin, liver, brain, and gastrointestinal tract. Cavernous hemangiomas on the skin appear as a rubbery, bluish mass that does not typically involute like capillary hemangiomas.

Most hemangiomas do not require treatment, especially if they are small and not causing any significant problems. However, in cases where hemangiomas interfere with vital functions, impair vision or hearing, or become infected, various treatments may be considered, such as medication (e.g., corticosteroids, propranolol), laser therapy, surgical excision, or embolization.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Cell division is the process by which a single eukaryotic cell (a cell with a true nucleus) divides into two identical daughter cells. This complex process involves several stages, including replication of DNA, separation of chromosomes, and division of the cytoplasm. There are two main types of cell division: mitosis and meiosis.

Mitosis is the type of cell division that results in two genetically identical daughter cells. It is a fundamental process for growth, development, and tissue repair in multicellular organisms. The stages of mitosis include prophase, prometaphase, metaphase, anaphase, and telophase, followed by cytokinesis, which divides the cytoplasm.

Meiosis, on the other hand, is a type of cell division that occurs in the gonads (ovaries and testes) during the production of gametes (sex cells). Meiosis results in four genetically unique daughter cells, each with half the number of chromosomes as the parent cell. This process is essential for sexual reproduction and genetic diversity. The stages of meiosis include meiosis I and meiosis II, which are further divided into prophase, prometaphase, metaphase, anaphase, and telophase.

In summary, cell division is the process by which a single cell divides into two daughter cells, either through mitosis or meiosis. This process is critical for growth, development, tissue repair, and sexual reproduction in multicellular organisms.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.

This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.

Cleft lip is a congenital birth defect that affects the upper lip, causing it to develop incompletely or split. This results in an opening or gap in the lip, which can range from a small split to a significant separation that extends into the nose. Cleft lip is often accompanied by cleft palate, which is a similar condition affecting the roof of the mouth.

The medical definition of cleft lip is as follows:

A congenital deformity resulting from failure of fusion of the maxillary and medial nasal processes during embryonic development, leading to a varying degree of separation or split in the upper lip, ranging from a minor notch to a complete cleft extending into the nose. It may occur as an isolated anomaly or in association with other congenital defects, such as cleft palate.

Cleft lip can be surgically corrected through various reconstructive procedures, typically performed during infancy or early childhood. The specific treatment plan depends on the severity and location of the cleft, as well as any associated medical conditions. Early intervention and comprehensive care from a multidisciplinary team of healthcare professionals are crucial for optimal outcomes in cleft lip repair.

Intracranial hemorrhage (ICH) is a type of stroke caused by bleeding within the brain or its surrounding tissues. It's a serious medical emergency that requires immediate attention and treatment. The bleeding can occur in various locations:

1. Epidural hematoma: Bleeding between the dura mater (the outermost protective covering of the brain) and the skull. This is often caused by trauma, such as a head injury.
2. Subdural hematoma: Bleeding between the dura mater and the brain's surface, which can also be caused by trauma.
3. Subarachnoid hemorrhage: Bleeding in the subarachnoid space, which is filled with cerebrospinal fluid (CSF) and surrounds the brain. This type of ICH is commonly caused by the rupture of an intracranial aneurysm or arteriovenous malformation.
4. Intraparenchymal hemorrhage: Bleeding within the brain tissue itself, which can be caused by hypertension (high blood pressure), amyloid angiopathy, or trauma.
5. Intraventricular hemorrhage: Bleeding into the brain's ventricular system, which contains CSF and communicates with the subarachnoid space. This type of ICH is often seen in premature infants but can also be caused by head trauma or aneurysm rupture in adults.

Symptoms of intracranial hemorrhage may include sudden severe headache, vomiting, altered consciousness, confusion, seizures, weakness, numbness, or paralysis on one side of the body, vision changes, or difficulty speaking or understanding speech. Rapid diagnosis and treatment are crucial to prevent further brain damage and potential long-term disabilities or death.

Radiosurgery is a non-invasive surgical procedure that uses precisely focused beams of radiation to treat various medical conditions, primarily in the field of neurosurgery and oncology. It allows for the destruction of targeted tissue while minimizing damage to surrounding healthy structures. Unlike traditional surgery, radiosurgery does not require any incisions, as it delivers radiation through the skin to reach the intended target.

The term "stereotactic" is often associated with radiosurgery, which refers to the use of a three-dimensional coordinate system to precisely locate and target the affected area. This technique enables high doses of radiation to be delivered accurately and efficiently, maximizing therapeutic effectiveness while minimizing side effects.

Radiosurgery can be used to treat various conditions such as brain tumors (both malignant and benign), arteriovenous malformations (AVMs), trigeminal neuralgia, acoustic neuromas, pituitary adenomas, and spinal cord tumors. Common radiosurgery platforms include the Gamma Knife, CyberKnife, and linear accelerator-based systems like Novalis Tx or TrueBeam.

It is essential to note that although it is called "surgery," radiosurgery does not involve any physical incisions or removal of tissue. Instead, it relies on the destructive effects of high-dose radiation to ablate or damage targeted cells over time, leading to their eventual death and resolution of symptoms or tumor control.

'46, XX Disorders of Sex Development' (DSD) is a medical term used to describe individuals who have typical female chromosomes (46, XX) but do not develop typical female physical characteristics. This condition is also sometimes referred to as 'Complete Androgen Insensitivity Syndrome' (CAIS).

Individuals with 46, XX DSD/CAIS have testes instead of ovaries, and they typically do not have a uterus or fallopian tubes. They usually have female external genitalia that appear normal or near-normal, but they may also have undescended testes or inguinal hernias. Because their bodies are insensitive to androgens (male hormones), they do not develop male physical characteristics such as a penis or facial hair.

Individuals with 46, XX DSD/CAIS are typically raised as females and may not become aware of their condition until puberty, when they do not menstruate or develop secondary sexual characteristics such as breasts. Treatment for this condition typically involves surgery to remove the undescended testes and hormone replacement therapy to promote the development of secondary sexual characteristics.

It's important to note that individuals with 46, XX DSD/CAIS can live healthy and fulfilling lives, but they may face unique challenges related to their gender identity, sexuality, and fertility. It is essential to provide these individuals with comprehensive medical care, emotional support, and access to resources and information to help them navigate these challenges.

Sclerosing solutions are medications or substances that are used to intentionally cause the scarring and hardening (sclerosis) of tissue, usually in the context of treating various medical conditions. These solutions work by irritating the interior lining of blood vessels or other targeted tissues, leading to the formation of a fibrous scar and the eventual closure of the affected area.

One common use of sclerosing solutions is in the treatment of abnormal veins, such as varicose veins or spider veins. A solution like sodium tetradecyl sulfate or polidocanol is injected directly into the problematic vein, causing inflammation and eventual closure of the vein. The body then gradually absorbs the closed vein, reducing its appearance and associated symptoms.

Other medical applications for sclerosing solutions include the treatment of lymphatic malformations, hydroceles, and certain types of tumors or cysts. It is essential to administer these substances under the supervision of a qualified healthcare professional, as improper use can lead to complications such as infection, tissue damage, or embolism.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

Dura Mater is the thickest and outermost of the three membranes (meninges) that cover the brain and spinal cord. It provides protection and support to these delicate structures. The other two layers are called the Arachnoid Mater and the Pia Mater, which are thinner and more delicate than the Dura Mater. Together, these three layers form a protective barrier around the central nervous system.

A synapse is a structure in the nervous system that allows for the transmission of signals from one neuron (nerve cell) to another. It is the point where the axon terminal of one neuron meets the dendrite or cell body of another, and it is here that neurotransmitters are released and received. The synapse includes both the presynaptic and postsynaptic elements, as well as the cleft between them.

At the presynaptic side, an action potential travels down the axon and triggers the release of neurotransmitters into the synaptic cleft through exocytosis. These neurotransmitters then bind to receptors on the postsynaptic side, which can either excite or inhibit the receiving neuron. The strength of the signal between two neurons is determined by the number and efficiency of these synapses.

Synapses play a crucial role in the functioning of the nervous system, allowing for the integration and processing of information from various sources. They are also dynamic structures that can undergo changes in response to experience or injury, which has important implications for learning, memory, and recovery from neurological disorders.

The spine, also known as the vertebral column, is a complex structure in the human body that is part of the axial skeleton. It is composed of 33 individual vertebrae (except in some people where there are fewer due to fusion of certain vertebrae), intervertebral discs, facet joints, ligaments, muscles, and nerves.

The spine has several important functions:

1. Protection: The spine protects the spinal cord, which is a major component of the nervous system, by enclosing it within a bony canal.
2. Support: The spine supports the head and upper body, allowing us to maintain an upright posture and facilitating movement of the trunk and head.
3. Movement: The spine enables various movements such as flexion (bending forward), extension (bending backward), lateral flexion (bending sideways), and rotation (twisting).
4. Weight-bearing: The spine helps distribute weight and pressure evenly across the body, reducing stress on individual vertebrae and other structures.
5. Blood vessel and nerve protection: The spine protects vital blood vessels and nerves that pass through it, including the aorta, vena cava, and spinal nerves.

The spine is divided into five regions: cervical (7 vertebrae), thoracic (12 vertebrae), lumbar (5 vertebrae), sacrum (5 fused vertebrae), and coccyx (4 fused vertebrae, also known as the tailbone). Each region has unique characteristics that allow for specific functions and adaptations to the body's needs.

Jaw abnormalities, also known as maxillofacial abnormalities, refer to any structural or functional deviations from the normal anatomy and physiology of the jaw bones (mandible and maxilla) and the temporomandibular joint (TMJ). These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as trauma, infection, tumors, or degenerative diseases.

Examples of jaw abnormalities include:

1. Micrognathia: a condition where the lower jaw is underdeveloped and appears recessed or small.
2. Prognathism: a condition where the lower jaw protrudes forward beyond the normal position.
3. Maxillary hypoplasia/aplasia: a condition where the upper jaw is underdeveloped or absent.
4. Mandibular hypoplasia/aplasia: a condition where the lower jaw is underdeveloped or absent.
5. Condylar hyperplasia: a condition where one or both of the condyles (the rounded ends of the mandible that articulate with the skull) continue to grow abnormally, leading to an asymmetrical jaw and facial deformity.
6. TMJ disorders: conditions affecting the temporomandibular joint, causing pain, stiffness, and limited movement.
7. Jaw tumors or cysts: abnormal growths that can affect the function and structure of the jaw bones.

Jaw abnormalities can cause various problems, including difficulty with chewing, speaking, breathing, and swallowing, as well as aesthetic concerns. Treatment options may include orthodontic treatment, surgery, or a combination of both, depending on the severity and nature of the abnormality.

Pregnancy complications refer to any health problems that arise during pregnancy which can put both the mother and the baby at risk. These complications may occur at any point during the pregnancy, from conception until childbirth. Some common pregnancy complications include:

1. Gestational diabetes: a type of diabetes that develops during pregnancy in women who did not have diabetes before becoming pregnant.
2. Preeclampsia: a pregnancy complication characterized by high blood pressure and damage to organs such as the liver or kidneys.
3. Placenta previa: a condition where the placenta covers the cervix, which can cause bleeding and may require delivery via cesarean section.
4. Preterm labor: when labor begins before 37 weeks of gestation, which can lead to premature birth and other complications.
5. Intrauterine growth restriction (IUGR): a condition where the fetus does not grow at a normal rate inside the womb.
6. Multiple pregnancies: carrying more than one baby, such as twins or triplets, which can increase the risk of premature labor and other complications.
7. Rh incompatibility: a condition where the mother's blood type is different from the baby's, which can cause anemia and jaundice in the newborn.
8. Pregnancy loss: including miscarriage, stillbirth, or ectopic pregnancy, which can be emotionally devastating for the parents.

It is important to monitor pregnancy closely and seek medical attention promptly if any concerning symptoms arise. With proper care and management, many pregnancy complications can be treated effectively, reducing the risk of harm to both the mother and the baby.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

'Pregnancy in Diabetics' refers to the condition where an individual with pre-existing diabetes mellitus becomes pregnant. This can be further categorized into two types:

1. Pre-gestational diabetes: This is when a woman is diagnosed with diabetes before she becomes pregnant. It includes both Type 1 and Type 2 diabetes. Proper control of blood sugar levels prior to conception and during pregnancy is crucial to reduce the risk of complications for both the mother and the baby.

2. Gestational diabetes: This is when a woman develops high blood sugar levels during pregnancy, typically in the second or third trimester. While it usually resolves after delivery, women with gestational diabetes have a higher risk of developing Type 2 diabetes later in life. Proper management of gestational diabetes is essential to ensure a healthy pregnancy and reduce the risk of complications for both the mother and the baby.

Magnetic Resonance Angiography (MRA) is a non-invasive medical imaging technique that uses magnetic fields and radio waves to create detailed images of the blood vessels or arteries within the body. It is a type of Magnetic Resonance Imaging (MRI) that focuses specifically on the circulatory system.

MRA can be used to diagnose and evaluate various conditions related to the blood vessels, such as aneurysms, stenosis (narrowing of the vessel), or the presence of plaques or tumors. It can also be used to plan for surgeries or other treatments related to the vascular system. The procedure does not use radiation and is generally considered safe, although people with certain implants like pacemakers may not be able to have an MRA due to safety concerns.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

The urinary tract is a system in the body responsible for producing, storing, and eliminating urine. It includes two kidneys, two ureters, the bladder, and the urethra. The kidneys filter waste and excess fluids from the blood to produce urine, which then travels down the ureters into the bladder. When the bladder is full, urine is released through the urethra during urination. Any part of this system can become infected or inflamed, leading to conditions such as urinary tract infections (UTIs) or kidney stones.

Digital subtraction angiography (DSA) is a medical imaging technique used to visualize the blood vessels and blood flow within the body. It combines the use of X-ray technology with digital image processing to produce detailed images of the vascular system.

In DSA, a contrast agent is injected into the patient's bloodstream through a catheter, which is typically inserted into an artery in the leg and guided to the area of interest using fluoroscopy. As the contrast agent flows through the blood vessels, X-ray images are taken at multiple time points.

The digital subtraction process involves taking a baseline image without contrast and then subtracting it from subsequent images taken with contrast. This allows for the removal of background structures and noise, resulting in clearer images of the blood vessels. DSA can be used to diagnose and evaluate various vascular conditions, such as aneurysms, stenosis, and tumors, and can also guide interventional procedures such as angioplasty and stenting.

Polydactyly is a genetic condition where an individual is born with more than the usual number of fingers or toes, often caused by mutations in specific genes. It can occur as an isolated trait or as part of a genetic syndrome. The additional digit(s) may be fully formed and functional, underdeveloped, or just a small bump. Polydactyly is one of the most common congenital limb abnormalities.

Goldenhar Syndrome, also known as Oculoauriculovertebral Spectrum (OAVS), is a rare congenital condition characterized by a combination of abnormalities affecting the development of the eyes, ears, jaw, and spine. The specific features of this syndrome can vary significantly from one individual to another, but they often include underdevelopment or absence of one ear (microtia) or both ears (anotia), benign growths or cysts in the ear (preauricular tags or sinuses), abnormalities in the formation of the jaw (hemifacial microsomia), and a variety of eye problems such as small eyes (microphthalmia) or anophthalmia (absence of one or both eyes). In addition, some individuals with Goldenhar Syndrome may have vertebral abnormalities, including scoliosis or spina bifida.

The exact cause of Goldenhar Syndrome is not fully understood, but it is believed to be related to disturbances in the development of the first and second branchial arches during embryonic development. These structures give rise to the facial bones, muscles, ears, and nerves. In some cases, genetic factors may play a role, but most cases appear to occur spontaneously, without a clear family history.

Treatment for Goldenhar Syndrome typically involves a multidisciplinary approach, with input from specialists such as plastic surgeons, ophthalmologists, audiologists, and orthodontists. Treatment may include reconstructive surgery to address facial asymmetry or ear abnormalities, hearing aids or other devices to improve hearing, and corrective lenses or surgery to address eye problems. Regular monitoring and follow-up care are also important to ensure optimal outcomes and to address any new issues that may arise over time.

"Age factors" refer to the effects, changes, or differences that age can have on various aspects of health, disease, and medical care. These factors can encompass a wide range of issues, including:

1. Physiological changes: As people age, their bodies undergo numerous physical changes that can affect how they respond to medications, illnesses, and medical procedures. For example, older adults may be more sensitive to certain drugs or have weaker immune systems, making them more susceptible to infections.
2. Chronic conditions: Age is a significant risk factor for many chronic diseases, such as heart disease, diabetes, cancer, and arthritis. As a result, age-related medical issues are common and can impact treatment decisions and outcomes.
3. Cognitive decline: Aging can also lead to cognitive changes, including memory loss and decreased decision-making abilities. These changes can affect a person's ability to understand and comply with medical instructions, leading to potential complications in their care.
4. Functional limitations: Older adults may experience physical limitations that impact their mobility, strength, and balance, increasing the risk of falls and other injuries. These limitations can also make it more challenging for them to perform daily activities, such as bathing, dressing, or cooking.
5. Social determinants: Age-related factors, such as social isolation, poverty, and lack of access to transportation, can impact a person's ability to obtain necessary medical care and affect their overall health outcomes.

Understanding age factors is critical for healthcare providers to deliver high-quality, patient-centered care that addresses the unique needs and challenges of older adults. By taking these factors into account, healthcare providers can develop personalized treatment plans that consider a person's age, physical condition, cognitive abilities, and social circumstances.

Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.

I'm sorry for any confusion, but "Polyvinyls" is not a medical term. It is a chemical term that refers to polymers made from vinyl chloride, which is used in the production of various plastics and resins. If you have any questions about medical terms or concepts, I'd be happy to help with those!

I apologize for any confusion, but I am unable to provide a medical definition for "Bucrylate" because it is not a term recognized in the medical field. It is possible that there may be a typographical error or misunderstanding of the intended term. If you have more information about the substance you are asking about, I'd be happy to help you try to find the correct definition or provide information related to its uses, safety, or other relevant details.

An "eugenic abortion" is not a medical term, but rather a descriptive phrase that combines two concepts: eugenics and abortion.

Eugenics refers to the belief and practice of improving the human species by encouraging reproduction of individuals with desired traits and preventing reproduction of those with undesired traits. This concept has been widely criticized for its potential to be used as a tool for discrimination and oppression.

Abortion, on the other hand, is the medical procedure to end a pregnancy before the fetus can survive outside the womb.

A "eugenic abortion," therefore, generally refers to the practice of terminating a pregnancy based on the perceived genetic traits or characteristics of the fetus, such as disability, race, or sex. This phrase is often used in discussions about the ethics and morality of selective abortions, and it raises important questions about discrimination, reproductive rights, and medical ethics. It's worth noting that the vast majority of abortions are not performed for eugenic reasons, but rather due to a variety of personal, medical, and socioeconomic factors.

A cloaca is a common cavity or channel in some animals, including many birds and reptiles, that serves as the combined endpoint for the digestive, urinary, and reproductive systems. Feces, urine, and in some cases, eggs are all expelled through this single opening. In humans and other mammals, these systems have separate openings. Anatomical anomalies can result in a human born with a cloaca, which is very rare and typically requires surgical correction.

Spina Bifida Occulta is a type of spinal dysraphism, which is a birth defect involving incomplete closure of the spine. In Spina Bifida Occulta, the spinal bones (vertebrae) do not fully form and close around the spinal cord during fetal development, leaving a small gap or split in the lower back region. However, the spinal cord and nerves usually develop normally and are not exposed or damaged, unlike in more severe forms of spina bifida.

In many cases, individuals with Spina Bifida Occulta do not experience any symptoms and may not even know they have the condition unless it is discovered during an imaging test for another reason. In some instances, people with this condition might develop late-onset neurological symptoms or complications such as back pain, muscle weakness, or changes in bladder or bowel function.

It's essential to note that while Spina Bifida Occulta is generally less severe than other forms of spina bifida, it can still pose risks and may require medical evaluation and monitoring to ensure proper development and address any potential issues.

Patch-clamp techniques are a group of electrophysiological methods used to study ion channels and other electrical properties of cells. These techniques were developed by Erwin Neher and Bert Sakmann, who were awarded the Nobel Prize in Physiology or Medicine in 1991 for their work. The basic principle of patch-clamp techniques involves creating a high resistance seal between a glass micropipette and the cell membrane, allowing for the measurement of current flowing through individual ion channels or groups of channels.

There are several different configurations of patch-clamp techniques, including:

1. Cell-attached configuration: In this configuration, the micropipette is attached to the outer surface of the cell membrane, and the current flowing across a single ion channel can be measured. This configuration allows for the study of the properties of individual channels in their native environment.
2. Whole-cell configuration: Here, the micropipette breaks through the cell membrane, creating a low resistance electrical connection between the pipette and the inside of the cell. This configuration allows for the measurement of the total current flowing across all ion channels in the cell membrane.
3. Inside-out configuration: In this configuration, the micropipette is pulled away from the cell after establishing a seal, resulting in the exposure of the inner surface of the cell membrane to the solution in the pipette. This configuration allows for the study of the properties of ion channels in isolation from other cellular components.
4. Outside-out configuration: Here, the micropipette is pulled away from the cell after establishing a seal, resulting in the exposure of the outer surface of the cell membrane to the solution in the pipette. This configuration allows for the study of the properties of ion channels in their native environment, but with the ability to control the composition of the extracellular solution.

Patch-clamp techniques have been instrumental in advancing our understanding of ion channel function and have contributed to numerous breakthroughs in neuroscience, pharmacology, and physiology.

Angiography is a medical procedure in which an x-ray image is taken to visualize the internal structure of blood vessels, arteries, or veins. This is done by injecting a radiopaque contrast agent (dye) into the blood vessel using a thin, flexible catheter. The dye makes the blood vessels visible on an x-ray image, allowing doctors to diagnose and treat various medical conditions such as blockages, narrowing, or malformations of the blood vessels.

There are several types of angiography, including:

* Cardiac angiography (also called coronary angiography) - used to examine the blood vessels of the heart
* Cerebral angiography - used to examine the blood vessels of the brain
* Peripheral angiography - used to examine the blood vessels in the limbs or other parts of the body.

Angiography is typically performed by a radiologist, cardiologist, or vascular surgeon in a hospital setting. It can help diagnose conditions such as coronary artery disease, aneurysms, and peripheral arterial disease, among others.

A Glomus tumor is a rare, benign (non-cancerous) neoplasm that arises from the glomus body, a specialized form of blood vessel found in the skin, particularly in the fingers and toes. These tumors are highly vascular and usually appear as small, blue or red nodules just beneath the nail bed or on the fingertips. They can also occur in other parts of the body such as the stomach, lung, and kidney, but these locations are much less common.

Glomus tumors typically present with symptoms like severe pain, especially when exposed to cold temperatures or pressure. The pain is often described as sharp, stabbing, or throbbing, and it can be debilitating for some individuals. Diagnosis of glomus tumors usually involves a physical examination, imaging studies such as MRI or CT scans, and sometimes biopsy. Treatment options include surgical excision, which is often curative, and in some cases, embolization or sclerotherapy may be used to reduce the blood flow to the tumor before surgery.

Anophthalmos is a medical condition where an individual is born without one or both eyes. It is a congenital disorder, which means it is present at birth. In cases where only one eye is affected, it is called unilateral anophthalmos, and when both eyes are missing, it is referred to as bilateral anophthalmos.

Anophthalmos is different from microphthalmia, another congenital condition where the eye is present but abnormally small. In some cases, anophthalmos may be accompanied by other developmental anomalies or syndromes. The exact cause of anophthalmos is not always known, but it can be associated with genetic mutations or environmental factors that affect fetal development.

Individuals with anophthalmos require specialized medical care and management to ensure proper eye socket development, visual rehabilitation, and overall well-being. This may include the use of prosthetic eyes, orthoptic therapy, and other supportive measures.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Veins are blood vessels that carry deoxygenated blood from the tissues back to the heart. They have a lower pressure than arteries and contain valves to prevent the backflow of blood. Veins have a thin, flexible wall with a larger lumen compared to arteries, allowing them to accommodate more blood volume. The color of veins is often blue or green due to the absorption characteristics of light and the reduced oxygen content in the blood they carry.

Micrognathism is a medical term that refers to a condition where the lower jaw (mandible) is abnormally small or underdeveloped. This can result in various dental and skeletal problems, including an improper bite (malocclusion), difficulty speaking, chewing, or swallowing, and sleep apnea. Micrognathism may be congenital or acquired later in life due to trauma, disease, or surgical removal of part of the jaw. Treatment options depend on the severity of the condition and can include orthodontic treatment, surgery, or a combination of both.

Fetal resorption, also known as fetal demise or intrauterine fetal death, is a medical term that refers to the absorption of a nonviable fetus by the mother's body after its death in utero. This process typically occurs before the 20th week of gestation and may go unnoticed if it happens early in pregnancy.

During fetal resorption, the fetal tissue is broken down and absorbed by the mother's body, leaving no visible remains of the fetus. The placenta and other surrounding tissues may still be present, but they often undergo changes as well. In some cases, a small amount of fetal tissue may be expelled from the uterus during the resorption process.

The causes of fetal resorption can vary, including chromosomal abnormalities, maternal health conditions, infections, and environmental factors. It is essential to seek medical attention if a woman suspects fetal resorption or experiences any unusual symptoms during pregnancy, such as vaginal bleeding or decreased fetal movement, to ensure proper diagnosis and management.

Ebstein anomaly is a congenital heart defect that affects the tricuspid valve, which is the valve between the right atrium and right ventricle of the heart. In Ebstein anomaly, the tricuspid valve is abnormally formed and positioned, causing it to leak blood back into the right atrium. This can lead to various symptoms such as shortness of breath, fatigue, and cyanosis (bluish discoloration of the skin). Treatment for Ebstein anomaly may include medication, surgery, or a combination of both. It is important to note that the severity of the condition can vary widely among individuals, and some people with Ebstein anomaly may require more intensive treatment than others.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Cerebellar diseases refer to a group of medical conditions that affect the cerebellum, which is the part of the brain located at the back of the head, below the occipital lobe and above the brainstem. The cerebellum plays a crucial role in motor control, coordination, balance, and some cognitive functions.

Cerebellar diseases can be caused by various factors, including genetics, infections, tumors, stroke, trauma, or degenerative processes. These conditions can result in a wide range of symptoms, such as:

1. Ataxia: Loss of coordination and unsteady gait
2. Dysmetria: Inability to judge distance and force while performing movements
3. Intention tremors: Shaking or trembling that worsens during purposeful movements
4. Nystagmus: Rapid, involuntary eye movement
5. Dysarthria: Speech difficulty due to muscle weakness or incoordination
6. Hypotonia: Decreased muscle tone
7. Titubation: Rhythmic, involuntary oscillations of the head and neck
8. Cognitive impairment: Problems with memory, attention, and executive functions

Some examples of cerebellar diseases include:

1. Ataxia-telangiectasia
2. Friedrich's ataxia
3. Multiple system atrophy (MSA)
4. Spinocerebellar ataxias (SCAs)
5. Cerebellar tumors, such as medulloblastomas or astrocytomas
6. Infarctions or hemorrhages in the cerebellum due to stroke or trauma
7. Infections, such as viral encephalitis or bacterial meningitis
8. Autoimmune disorders, like multiple sclerosis (MS) or paraneoplastic syndromes
9. Metabolic disorders, such as Wilson's disease or phenylketonuria (PKU)
10. Chronic alcoholism and withdrawal

Treatment for cerebellar diseases depends on the underlying cause and may involve medications, physical therapy, surgery, or supportive care to manage symptoms and improve quality of life.

Neurosurgical procedures are operations that are performed on the brain, spinal cord, and peripheral nerves. These procedures are typically carried out by neurosurgeons, who are medical doctors with specialized training in the diagnosis and treatment of disorders of the nervous system. Neurosurgical procedures can be used to treat a wide range of conditions, including traumatic injuries, tumors, aneurysms, vascular malformations, infections, degenerative diseases, and congenital abnormalities.

Some common types of neurosurgical procedures include:

* Craniotomy: A procedure in which a bone flap is temporarily removed from the skull to gain access to the brain. This type of procedure may be performed to remove a tumor, repair a blood vessel, or relieve pressure on the brain.
* Spinal fusion: A procedure in which two or more vertebrae in the spine are fused together using bone grafts and metal hardware. This is often done to stabilize the spine and alleviate pain caused by degenerative conditions or spinal deformities.
* Microvascular decompression: A procedure in which a blood vessel that is causing pressure on a nerve is repositioned or removed. This type of procedure is often used to treat trigeminal neuralgia, a condition that causes severe facial pain.
* Deep brain stimulation: A procedure in which electrodes are implanted in specific areas of the brain and connected to a battery-operated device called a neurostimulator. The neurostimulator sends electrical impulses to the brain to help alleviate symptoms of movement disorders such as Parkinson's disease or dystonia.
* Stereotactic radiosurgery: A non-invasive procedure that uses focused beams of radiation to treat tumors, vascular malformations, and other abnormalities in the brain or spine. This type of procedure is often used for patients who are not good candidates for traditional surgery due to age, health status, or location of the lesion.

Neurosurgical procedures can be complex and require a high degree of skill and expertise. Patients considering neurosurgical treatment should consult with a qualified neurosurgeon to discuss their options and determine the best course of action for their individual situation.

Polyhydramnios is a medical condition characterized by an excessive accumulation of amniotic fluid in the sac surrounding the fetus during pregnancy, typically defined as an amniotic fluid index (AFI) greater than 24 cm or a single deepest pocket (SDP) measurement of more than 8 cm. It occurs in approximately 1-2% of pregnancies and can be associated with various maternal, fetal, and genetic conditions. If left untreated, polyhydramnios may increase the risk of premature labor, premature rupture of membranes, and other pregnancy complications. Proper diagnosis and management are essential to ensure a healthy pregnancy outcome.

Pulmonary veins are blood vessels that carry oxygenated blood from the lungs to the left atrium of the heart. There are four pulmonary veins in total, two from each lung, and they are the only veins in the body that carry oxygen-rich blood. The oxygenated blood from the pulmonary veins is then pumped by the left ventricle to the rest of the body through the aorta. Any blockage or damage to the pulmonary veins can lead to various cardiopulmonary conditions, such as pulmonary hypertension and congestive heart failure.

Lymphangioma is a benign (noncancerous) tumor or malformation that occurs due to the abnormal development of the lymphatic system, a part of the immune system that helps fight infection and eliminate waste products. Lymphangiomas are typically composed of dilated lymphatic vessels filled with clear fluid called lymph. These masses can occur in various parts of the body but are most commonly found in the head, neck, and axilla (armpit) regions.

There are three main types of lymphangiomas:

1. Capillary lymphangioma: Also known as "lymphangiectasia" or "lymphangiomatosis," this is the most superficial and least aggressive type, often presenting as small vesicles or blisters on the skin.
2. Cavernous lymphangioma: This type consists of larger, more dilated lymphatic spaces and can involve deeper tissues. It usually appears as a soft, compressible mass beneath the skin.
3. Cystic hygroma: A subtype of cavernous lymphangioma, cystic hygromas are typically found in the neck or axilla regions and present as large, fluid-filled sacs or cysts.

Lymphangiomas can cause various symptoms depending on their size and location, including swelling, pain, infection, difficulty swallowing, or breathing problems if they compress vital structures such as airways or blood vessels. Treatment options may include surgical excision, sclerotherapy (injection of a substance to shrink the lesion), or observation, depending on the individual case and patient's preferences.

Microphthalmos is a medical condition where one or both eyes are abnormally small due to developmental anomalies in the eye. The size of the eye may vary from slightly smaller than normal to barely visible. This condition can occur in isolation or as part of a syndrome with other congenital abnormalities. It can also be associated with other ocular conditions such as cataracts, retinal disorders, and orbital defects. Depending on the severity, microphthalmos may lead to visual impairment or blindness.

The first trimester of pregnancy is defined as the period of gestational development that extends from conception (fertilization of the egg by sperm) to the end of the 13th week. This critical phase marks significant transformations in both the mother's body and the growing embryo/fetus.

During the first trimester, the fertilized egg implants into the uterine lining (implantation), initiating a series of complex interactions leading to the formation of the placenta - an organ essential for providing nutrients and oxygen to the developing fetus while removing waste products. Simultaneously, the embryo undergoes rapid cell division and differentiation, giving rise to various organs and systems. By the end of the first trimester, most major structures are present, although they continue to mature and grow throughout pregnancy.

The mother may experience several physiological changes during this time, including:
- Morning sickness (nausea and vomiting)
- Fatigue
- Breast tenderness
- Frequent urination
- Food aversions or cravings
- Mood swings

Additionally, hormonal shifts can cause various symptoms and prepare the body for potential changes in lactation, posture, and pelvic alignment as pregnancy progresses. Regular prenatal care is crucial during this period to monitor both maternal and fetal wellbeing, identify any potential complications early on, and provide appropriate guidance and support throughout the pregnancy.

The skull is the bony structure that encloses and protects the brain, the eyes, and the ears. It is composed of two main parts: the cranium, which contains the brain, and the facial bones. The cranium is made up of several fused flat bones, while the facial bones include the upper jaw (maxilla), lower jaw (mandible), cheekbones, nose bones, and eye sockets (orbits).

The skull also provides attachment points for various muscles that control chewing, moving the head, and facial expressions. Additionally, it contains openings for blood vessels, nerves, and the spinal cord to pass through. The skull's primary function is to protect the delicate and vital structures within it from injury and trauma.

Klippel-Feil Syndrome is a rare congenital condition characterized by the abnormal fusion or joining of two or more spinal bones (vertebrae) in the neck (cervical region). This fusion typically occurs during fetal development and can affect one or more levels of the cervical spine. The syndrome is usually diagnosed in early childhood, although milder cases may not be detected until later in life.

The medical definition of Klippel-Feil Syndrome includes the following major features:

1. Congenital fusion (synostosis) of two or more cervical vertebrae: This fusion can result in restricted mobility and increased stiffness in the neck, which may lead to a decreased range of motion and potential complications such as spinal cord injuries.
2. Short neck: A shortened neck is often observed in individuals with Klippel-Feil Syndrome due to the fusion of vertebrae. This feature can be associated with a low hairline at the back of the head (occipital low hairline) and limited mobility in the upper spine.
3. Webbed neck: Some individuals with Klippel-Feil Syndrome may have a webbed or wide neck, which is characterized by excess skin and soft tissue in the neck region. This feature can be mild or severe and may impact the overall appearance of the individual.

In addition to these primary features, Klippel-Feil Syndrome can also be associated with several secondary symptoms and conditions, including:

1. Spinal deformities: Scoliosis (lateral curvature of the spine) or kyphosis (excessive forward curvature of the spine) may occur due to the abnormal spinal development.
2. Neurological complications: Compression or irritation of the spinal cord or nerves can lead to various neurological symptoms, such as numbness, tingling, or weakness in the arms and legs.
3. Genitourinary anomalies: Approximately 30% of individuals with Klippel-Feil Syndrome have genitourinary abnormalities, including kidney malformations, horseshoe kidney, or abnormalities in the reproductive organs.
4. Hearing impairment: Up to 50% of individuals with Klippel-Feil Syndrome may experience hearing loss or other auditory issues due to inner ear anomalies.
5. Craniofacial abnormalities: Some individuals with Klippel-Feil Syndrome may have craniofacial abnormalities, such as cleft palate, low-set ears, or a small jaw (micrognathia).
6. Cardiovascular anomalies: Approximately 10% of individuals with Klippel-Feil Syndrome have cardiovascular abnormalities, including heart defects or blood vessel malformations.

The exact cause of Klippel-Feil Syndrome is not fully understood, but it is believed to result from abnormal development of the cervical vertebrae during embryonic growth. In some cases, it may be associated with genetic mutations or chromosomal abnormalities; however, in many instances, no specific cause can be identified.

Diagnosis of Klippel-Feil Syndrome typically involves a combination of physical examination and imaging studies, such as X-rays, CT scans, or MRI exams. These tests help to assess the structure and alignment of the cervical spine and identify any associated abnormalities.

Treatment for Klippel-Feil Syndrome depends on the severity of symptoms and the presence of any complications. In some cases, no specific treatment may be necessary beyond regular monitoring by a healthcare provider. However, if neck pain, limited mobility, or other issues are present, various therapies and interventions may be recommended, including:

1. Physical therapy: Exercises and stretches can help improve strength, flexibility, and range of motion in the neck and surrounding muscles.
2. Pain management: Medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or opioids, may be prescribed to help alleviate pain and discomfort. In some cases, injections of corticosteroids or other medications may be used to target specific areas of inflammation or pain.
3. Surgery: If severe deformities, instability, or neurological complications are present, surgery may be necessary to stabilize the spine and prevent further damage. Various surgical techniques, such as spinal fusion or decompression procedures, may be used depending on the specific needs of the patient.
4. Lifestyle modifications: Avoiding activities that exacerbate symptoms, maintaining good posture, and using supportive devices, such as neck braces or pillows, can help manage symptoms and prevent further injury.
5. Regular follow-up care: Regular checkups with a healthcare provider are essential to monitor the progression of Klippel-Feil Syndrome and address any new or worsening symptoms as they arise.

A diaphragmatic hernia is a type of hernia that occurs when the abdominal organs (such as the stomach, intestines, or liver) protrude through an opening in the diaphragm, the thin muscle that separates the chest and abdominal cavities. This condition can be present at birth (congenital) or acquired due to injury or surgery.

There are two main types of diaphragmatic hernias:

1. Bochdalek hernia: This is a congenital defect that occurs when the posterior portion of the diaphragm fails to close properly during fetal development, creating an opening through which abdominal organs can move into the chest cavity. It is more common on the left side and can lead to pulmonary hypoplasia (underdevelopment of the lungs) and other complications if not detected and treated early.
2. Morgagni hernia: This is a less common type of congenital diaphragmatic hernia that occurs when there is an opening in the anterior portion of the diaphragm, allowing abdominal organs to move into the chest cavity near the sternum. It tends to be asymptomatic and may not be discovered until adulthood.

Acquired diaphragmatic hernias can result from trauma, such as a car accident or penetrating injury, which causes a tear in the diaphragm. In some cases, surgical procedures involving the abdomen or chest can also lead to a diaphragmatic hernia.

Symptoms of a diaphragmatic hernia may include difficulty breathing, chest pain, vomiting, and bowel obstruction. Treatment typically involves surgery to repair the defect in the diaphragm and return the abdominal organs to their proper position.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Trisomy is a genetic condition where there is an extra copy of a particular chromosome, resulting in 47 chromosomes instead of the typical 46 in a cell. This usually occurs due to an error in cell division during the development of the egg, sperm, or embryo.

Instead of the normal pair, there are three copies (trisomy) of that chromosome. The most common form of trisomy is Trisomy 21, also known as Down syndrome, where there is an extra copy of chromosome 21. Other forms include Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), which are associated with more severe developmental issues and shorter lifespans.

Trisomy can also occur in a mosaic form, where some cells have the extra chromosome while others do not, leading to varying degrees of symptoms depending on the proportion of affected cells.

Spontaneous abortion, also known as miscarriage, is the unintentional expulsion of a nonviable fetus from the uterus before the 20th week of gestation. It is a common complication of early pregnancy, with most miscarriages occurring during the first trimester. Spontaneous abortion can have various causes, including chromosomal abnormalities, maternal health conditions, infections, hormonal imbalances, and structural issues of the uterus or cervix. In many cases, the exact cause may remain unknown.

The symptoms of spontaneous abortion can vary but often include vaginal bleeding, which may range from light spotting to heavy bleeding; abdominal pain or cramping; and the passing of tissue or clots from the vagina. While some miscarriages occur suddenly and are immediately noticeable, others may progress slowly over several days or even weeks.

In medical practice, healthcare providers often use specific terminology to describe different stages and types of spontaneous abortion. For example:

* Threatened abortion: Vaginal bleeding during early pregnancy, but the cervix remains closed, and there is no evidence of fetal demise or passing of tissue.
* Inevitable abortion: Vaginal bleeding with an open cervix, indicating that a miscarriage is imminent or already in progress.
* Incomplete abortion: The expulsion of some but not all products of conception from the uterus, requiring medical intervention to remove any remaining tissue.
* Complete abortion: The successful passage of all products of conception from the uterus, often confirmed through an ultrasound or pelvic examination.
* Missed abortion: The death of a fetus in the uterus without any expulsion of the products of conception, which may be discovered during routine prenatal care.
* Septic abortion: A rare and life-threatening complication of spontaneous abortion characterized by infection of the products of conception and the surrounding tissues, requiring prompt medical attention and antibiotic treatment.

Healthcare providers typically monitor patients who experience a spontaneous abortion to ensure that all products of conception have been expelled and that there are no complications, such as infection or excessive bleeding. In some cases, medication or surgical intervention may be necessary to remove any remaining tissue or address other issues related to the miscarriage. Counseling and support services are often available for individuals and couples who experience a spontaneous abortion, as they may face emotional challenges and concerns about future pregnancies.

"Maternal exposure" is a medical term that refers to the contact or interaction of a pregnant woman with various environmental factors, such as chemicals, radiation, infectious agents, or physical environments, which could potentially have an impact on the developing fetus. This exposure can occur through different routes, including inhalation, ingestion, dermal contact, or even transplacentally. The effects of maternal exposure on the fetus can vary widely depending on the type, duration, and intensity of the exposure, as well as the stage of pregnancy at which it occurs. It is important to monitor and minimize maternal exposure to potentially harmful substances or environments during pregnancy to ensure the best possible outcomes for both the mother and developing fetus.

Conjoined twins, also known as Siamese twins, are a rare type of monozygotic (identical) twins who are born physically connected to each other. They develop from a single fertilized egg that fails to fully separate, resulting in various degrees of fusion between their bodies. The point of connection and the extent of sharing body parts can vary greatly between sets of conjoined twins. Some may be connected at the chest, abdomen, or hips, while others may share vital organs such as the heart or brain. Treatment options depend on the type of conjunction and whether separation is possible without causing harm to either twin. Conjoined twins occur in about 1 in every 200,000 live births.

Tooth abnormalities refer to any variations or irregularities in the size, shape, number, structure, or development of teeth that deviate from the typical or normal anatomy. These abnormalities can occur in primary (deciduous) or permanent teeth and can be caused by genetic factors, environmental influences, systemic diseases, or localized dental conditions during tooth formation.

Some examples of tooth abnormalities include:

1. Microdontia - teeth that are smaller than normal in size.
2. Macrodontia - teeth that are larger than normal in size.
3. Peg-shaped teeth - teeth with a narrow, conical shape.
4. Talon cusps - additional cusps or points on the biting surface of a tooth.
5. Dens invaginatus - an abnormal development where the tooth crown has an extra fold or pouch that can trap bacteria and cause dental problems.
6. Taurodontism - teeth with large pulp chambers and short roots.
7. Supernumerary teeth - having more teeth than the typical number (20 primary and 32 permanent teeth).
8. Hypodontia - missing one or more teeth due to a failure of development.
9. Germination - two adjacent teeth fused together, usually occurring in the front teeth.
10. Fusion - two separate teeth that have grown together during development.

Tooth abnormalities may not always require treatment unless they cause functional, aesthetic, or dental health issues. A dentist can diagnose and manage tooth abnormalities through various treatments, such as fillings, extractions, orthodontic care, or restorative procedures.

Müllerian ducts are a pair of embryonic structures found in female mammals, including humans. They give rise to the female reproductive system during fetal development. In females, the Müllerian ducts develop into the fallopian tubes, uterus, cervix, and upper part of the vagina.

In males, the regression of Müllerian ducts is induced by a hormone called anti-Müllerian hormone (AMH), produced by the developing testes. In the absence of AMH or if it fails to function properly, the Müllerian ducts may persist and lead to conditions known as persistent Müllerian duct syndrome (PMDS) or Müllerian remnants in males.

In summary, Müllerian ducts are essential structures for female reproductive system development, and their regression is crucial for male reproductive organ formation.

A heart septal defect is a type of congenital heart defect, which means it is present at birth. It involves an abnormal opening in the septum, the wall that separates the two sides of the heart. This opening allows oxygen-rich blood to leak into the oxygen-poor blood chambers in the heart.

There are several types of heart septal defects, including:

1. Atrial Septal Defect (ASD): A hole in the atrial septum, the wall between the two upper chambers of the heart (the right and left atria).
2. Ventricular Septal Defect (VSD): A hole in the ventricular septum, the wall between the two lower chambers of the heart (the right and left ventricles).
3. Atrioventricular Septal Defect (AVSD): A combination of an ASD and a VSD, often accompanied by malformation of the mitral and/or tricuspid valves.

The severity of a heart septal defect depends on the size of the opening and its location in the septum. Small defects may cause no symptoms and may close on their own over time. Larger defects can lead to complications, such as heart failure, pulmonary hypertension, or infective endocarditis, and may require medical or surgical intervention.

Vascular skin diseases are a group of medical conditions that affect the blood vessels in the skin. These disorders can be caused by problems with the structure or function of the blood vessels, which can lead to various symptoms such as redness, discoloration, pain, itching, and ulcerations. Some examples of vascular skin diseases include:

1. Rosacea: a chronic skin condition that causes redness, flushing, and visible blood vessels in the face.
2. Eczema: a group of inflammatory skin conditions that can cause redness, itching, and dryness. Some types of eczema, such as varicose eczema, are associated with problems with the veins.
3. Psoriasis: an autoimmune condition that causes red, scaly patches on the skin. Some people with psoriasis may also develop psoriatic arthritis, which can affect the blood vessels in the skin and joints.
4. Vasculitis: a group of conditions that cause inflammation of the blood vessels. This can lead to symptoms such as redness, pain, and ulcerations.
5. Livedo reticularis: a condition that causes a net-like pattern of discoloration on the skin, usually on the legs. It is caused by abnormalities in the small blood vessels.
6. Henoch-Schönlein purpura: a rare condition that causes inflammation of the small blood vessels, leading to purple spots on the skin and joint pain.
7. Raynaud's phenomenon: a condition that affects the blood vessels in the fingers and toes, causing them to become narrow and restrict blood flow in response to cold temperatures or stress.

Treatment for vascular skin diseases depends on the specific condition and its severity. It may include medications, lifestyle changes, and in some cases, surgery.

A coloboma is a congenital condition that results from incomplete closure of the optic fissure during fetal development. This results in a gap or hole in one or more structures of the eye, such as the iris, retina, choroid, or optic nerve. The size and location of the coloboma can vary widely, and it may affect one or both eyes.

Colobomas can cause a range of visual symptoms, depending on their size and location. Some people with colobomas may have no visual impairment, while others may experience reduced vision, double vision, or sensitivity to light. In severe cases, colobomas can lead to blindness.

Colobomas are usually diagnosed during routine eye exams and are typically not treatable, although some visual symptoms may be managed with glasses, contact lenses, or surgery in certain cases. Colobomas can occur as an isolated condition or as part of a genetic syndrome, so individuals with colobomas may benefit from genetic counseling to understand their risk of passing the condition on to their offspring.

A port-wine stain is a type of birthmark that appears at birth or shortly thereafter. It's caused by an abnormal development of blood vessels in the skin, leading to a permanently reddish-purple discoloration. Port-wine stains are generally found on the face but can occur anywhere on the body. They tend to grow as the child grows and may become darker and thicker over time.

Unlike some other types of birthmarks, port-wine stains usually do not fade or go away on their own. In some cases, they can be associated with various syndromes or conditions that affect the development of blood vessels or nerves. Treatment options include laser therapy, which can help to reduce the size and color of the stain, especially when started in early childhood.

A craniotomy is a surgical procedure where a bone flap is temporarily removed from the skull to access the brain. This procedure is typically performed to treat various neurological conditions, such as brain tumors, aneurysms, arteriovenous malformations, or traumatic brain injuries. After the underlying brain condition is addressed, the bone flap is usually replaced and secured back in place with plates and screws. The purpose of a craniotomy is to provide access to the brain for diagnostic or therapeutic interventions while minimizing potential damage to surrounding tissues.

In medical terms, the face refers to the front part of the head that is distinguished by the presence of the eyes, nose, and mouth. It includes the bones of the skull (frontal bone, maxilla, zygoma, nasal bones, lacrimal bones, palatine bones, inferior nasal conchae, and mandible), muscles, nerves, blood vessels, skin, and other soft tissues. The face plays a crucial role in various functions such as breathing, eating, drinking, speaking, seeing, smelling, and expressing emotions. It also serves as an important identifier for individuals, allowing them to be recognized by others.

Malformations of cortical development. Most affected lobes† Cerebellum or brainstem hypoplasia. Corpus callosum hypoplasia† ... Neuroimaging (CT scan in 13 infants and MRI in 10 infants) showed malformations of cortical development, which were most ... and cortical malformations. The earliest evaluation occurred on the second day of life. Among all infants, head growth was ... cortical malformations and subcortical calcifications, underscoring the importance of neuroimaging in evaluating these infants ...
Pang, Trudy; Atefy, Ramin; Sheen, Volney (2008). "Malformations of Cortical Development". The Neurologist. 14 (3): 181-191. doi ... "A developmental and genetic classification for malformations of cortical development: update 2012". Brain. 135 (5): 1348-1369. ... The human brain undergoes gyrification during fetal and neonatal development. In embryonic development, all mammalian brains ... Ridges and depressions create folds allowing a larger cortical surface area, and greater cognitive function, to exist in the ...
13] Cortical dysplasias are separated into minor malformations of cortical development (mMCDs) and more severe focal cortical ... MRI of Malformations of Cortical Development. Malformations due to abnormal neuronal and glial proliferation or apoptosis. ... Classification of Malformations of Cortical Development. MCDs are classified into the following 3 categories based on the stage ... Of all malformations of cortical development, FCDs are the most likely to be amenable to surgical resection. Sometimes, the ...
Malformation of cortical development. 42 (87.5). Ventriculomegaly. 37 (77.1). White matter attenuation. 15 (31.3). ...
Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous research and consensus agreement to improve ... and SLC35A2 in mild malformations of cortical development (mMCDs) with oligodendroglial hyperplasia (MOGHE). The electro- ... Malformations of Cortical Development* / diagnostic imaging * Malformations of Cortical Development* / genetics * Malformations ... The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE ...
... development and use of animal model systems; Joubert and Dandy-Walker Syndrome; Chiari Malformations; Down Syndrome and ... Early pattern formation; neural polarity and migration; axonal guidance; cortical, cerebellar, midbrain, and hindbrain ... K23 - Mentored Patient-Oriented Research Career Development Award. R25 - NIH Neuroscience Development for Advancing the Careers ... K08 - Mentored Clinical Scientist Research Career Development Award. K12 - Neurosurgeon Research Career Development Program ( ...
Classification system for malformations of cortical development: update 2001.Neurology 2001;57:2168-2178. ... Malformations of cortical development and epilepsy.Brain Dev 2001;23:2-11. ... Polymicrogyria (PMG) is a malformation of cortical development characterized by excessive small and prominent convolutions ... Cell migration and cerebral cortical development.Neuropathol Appl Neurobiol 2001;27:22-28. ...
Nervous System Malformations [C10.500]. *Malformations of Cortical Development [C10.500.507]. *Lissencephaly [C10.500.507.249] ... G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. Proc ... Nervous System Malformations [C16.131.666]. *Malformations of Cortical Development [C16.131.666.507]. *Lissencephaly [C16.131. ...
Multivoxel Proton MR Spectroscopy in Malformations of Cortical Development C.C. Leite, L.T. Lucato, J.R. Sato, K.D. Valente and ... Pattern of Cortical Changes in Sporadic Creutzfeldt-Jakob Disease H.J. Tschampa, K. Kallenberg, H.A. Kretzschmar, B. Meissner, ... Wyburn-Mason Syndrome Associated with Thyroid Arteriovenous Malformation: A First Case Report A.W. Lee, C.S. Chen, P. Gailloud ... Diffusion Tensor Fiber Tractography for Arteriovenous Malformations: Quantitative Analyses to Evaluate the Corticospinal Tract ...
The literature is not clear as to how abnormal cortical development contributes to the creation of epileptic seizures in ... Focal cortical dysplasia is a malformation of the cerebral cortex associated with one of the most severe types of epilepsy. ... With an organoid, its possible to study each stage of the malformation, which starts with development of the cortex, with ... "We succeeded in mimicking the development of the neocortex and some hallmarks of focal cortical dysplasia," Avansini said. "The ...
Septo-optic dysplasia is a disorder of early brain development. Explore symptoms, inheritance, genetics of this condition. ... Septo-optic dysplasia plus: a spectrum of malformations of cortical development. Neurology. 2000 Apr 25;54(8):1701-3. doi: ... The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential ... In the early stages of brain development, these structures may form abnormally or fail to develop at all. Depending on which ...
The Arcuate Fasciculus and Language Development in a Cohort of Pediatric Patients with Malformations of Cortical Development ... Diffusion tensor imaging in patients with epilepsy and malformations of cortical development. Brain 2001; 124:627-636 ... Microstructural development of human newborn cerebral white matter assessed in vivo by diffusion tensor magnetic resonance ... 13A,13B,13C,13D). In particular, correlations between damage to different transcallosal cortical connections and types of ...
abnormal cortical organization * mild malformations of cortical development (previously microdysgenesis). * polymicrogyria and ... malformations of cortical development *abnormal cell proliferation or apoptosis *abnormal brain size * microcephaly *with ... malformations of the cerebellum *cerebellar hypoplasia *focal hypoplasia. *generalized hypoplasia *with enlarged fourth ... Malformations of the Nervous System. (2008) ISBN: 9780444518965 - Google Books. *7. Michael Jeffrey Aminoff, Robert B. Daroff. ...
Tensor-valued diffusion MRI differentiates cortex and white matter in malformations of cortical development associated with ... differentiating cortex and white matter in malformations of cortical development associated with epilepsy [33], and ...
... constitutive Cul3 heterozygous mutant mice display cortical lamination abnormalities. At the molecular level, we found that ... In addition, Cul3fl/fl Emx1-Cre mice show severe brain malformations with pronounced cortical and hippocampal atrophy (Fig. 3f ... Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in ... Cortical excitatory neurons and glia, but not GABAergic neurons, are produced in the Emx1-expressing lineage. J. Neurosci. 22, ...
The long-term goals of the Stottmann Lab are to understand the genes and molecular mechanisms guiding normal development of ... Research has shown in mice and humans that variants in tubulins lead to drastic malformations of cortical development. The ... Cholesterol Metabolism in Cortical Development The rudolph mutation was recovered in another ENU mutagenesis screen in the ... ENU Mutagenesis: a Forward Genetic Approach to understanding Cortical and Craniofacial Development The lab primarily uses this ...
Language Dominance in Patients With Malformations of Cortical Development and Epilepsy.. FRONT NEUROL. 2019; 10: 1209 ... Discovery, development and effectiveness of coagulation-inhibiting drugs for stroke therapy.. Expert Opin Drug Discov. 2011; 6( ... Cortical afferent inhibition is reduced in patients with idiopathic REM sleep behavior disorder and cognitive impairment: a TMS ... Cortical afferent inhibition reflects cognitive impairment in obstructive sleep apnea syndrome: a TMS study. ...
Two of the cases showed heterotopias and malformations in cortical development, and one showed parietal encephalocele, Chiari ... Therefore, it is important for clinicians to continue to monitor brain development for Zika-exposed infants after birth," ...
In Paper V, we used tensor-valued diffusion encoding in malformations of cortical development. Lesions that appeared gray ... we used tensor-valued diffusion encoding in malformations of cortical development. Lesions that appeared gray matter-like in T1 ...
A developmental and genetic classification for malformations of cortical development. A. J. Barkovich, R. I. Kuzniecky, G. D. ... Polymicrogyria is a brain malformation characterized by abnormal cortical lamination, excessive cortical folding, and fusion of ... A distinct syndrome of cortical malformation. B. S. Chang, X. Piao, C. Giannini et al.. Neurology, May 24, 2004 ... A newly recognized brain malformation syndrome. Renzo Guerrini, A. James Barkovich, László Sztriha, William B. Dobyns ...
Quantitative MRI detects abnormalities in relatives of patients with epilepsy and malformations of cortical development. ... Diehl B, Piao Z, Tkach J, Busch RM, LaPresto E, Najm I, Bingaman B, Duncan J, Lüders H. Cortical stimulation for language ... Prefrontal cortical function and anxiety: controlling attention to threat-related stimuli. Nature Neuroscience. 7: 184-8. PMID ... The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ...
Role of purines in brain development, from neuronal proliferation to synaptic refinement. Rimbert S, Moreira JB, Xapelli S, ... Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation. Jabali A, Hoffrichter A, Uzquiano A ... A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and ... Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse ...
The human brain is a genetic mosaic resulting from frequent somatic mutations during development. Somatic mosaicism cause Focal ... Project: Molecular and circuits bases of epileptogenic mosaic cortical malformations Acronym MOSAIC (Reference Number: NEURON_ ... a brain malformation manifesting with childhood drug-resistant epilepsy. FCD is characterized by cortical disorganization as ... We will use human iPSCs-derived cortical organoids to identify the developmental mechanisms at play in FCD and provide proof-of ...
Cortical malformation syndromes (MCD) *Cardio-Facio-Cutaneous (CFC) Syndrome and Costello Syndrome (CS) ... An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Heus, K.G.C.B.B., ... 1. Genes that not only affect brain development but are also associated with an increased risk of tumors (in the brain or ... Mutations in these genes therefore not only affect the development of the brain, but are usually also associated with an ...
... joined the UCSF-MSTP where she did her graduate thesis with Samuel Pleasure and Scott Baraban studying cortical malformations. ... He is also a recipient of the NCI Transition Career Development Award, Susan G. Komen Career Catalyst Research Award, DoD Idea ... His postdoctoral work as a Damon Runyon Fellow in Jonathan Weissmans lab at UCSF centered on the development of the Perturb- ... at UCSF and postdoctoral training in the Alvarez-Buylla lab where she studied the development and survival of cortical ...
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Focal Cortical Dysplasia ... Brain development after intrauterine exposure to lithium: A magnetic resonance imaging study in school-age children. Poels, E. ... A Sex-Dependent Association between Doxycycline Use and Development of Schizophrenia. De Witte, L. D., Munk Laursen, T., ... CpH methylome analysis in human cortical neurons identifies novel gene pathways and drug targets for opioid use disorder. ...
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Focal Cortical Dysplasia ... COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. Rebello, D., Wohler, E., Erfani, V., Li, G., ... Cortical atrophy and leukoaraiosis, imaging markers of cerebrovascular small vessel disease, are associated with driving ... a review of the pathobiology of caudal spinal cord development and spinal cord tethering. Illustrative case. Johnson, G. W., Xu ...
... larger human MRI-based cortical folding studies to assess whether AVMs are congenital lesions of vascular development or de ... Of the three metrics, CDI, DDI and GI, used for cortical folding assessment, none demonstrated significant differences between ... After standard preprocessing, segmentation and registration techniques, three measures of cortical folding, the depth ... This study is the first to quantitatively assess human brain cortical folding in the presence of intracranial AVMs and no ...
MRI can detect some common causes of seizures, such as malformations of cortical development in young children and mesial ... Psychomotor development stagnates or regresses during the second year of life. Mutations in the sodium channel alpha-1 subunit ... These seizures are more common among males (2:1). Development and cognition are typically normal but may become impaired when ... A seizure is an abnormal, unregulated electrical discharge that occurs within the brains cortical gray matter and transiently ...
Tuberous sclerosis, an autosomal dominant disorder in which there are numerous developmental cortical malformations that lead ... Another autosomal dominant disorder, neurofibromatosis type 2, often leads to the development of multiple meningiomas, which ... Current thinking is that a phenomenon known as cortical spreading depression is responsible for the disorder. In cortical ...

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