A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A characteristic symptom complex.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The possession of a third chromosome of any one type in an otherwise diploid cell.
The age of the mother in PREGNANCY.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A hydroxylated metabolite of ESTRADIOL or ESTRONE that has a hydroxyl group at C3, 16-alpha, and 17-beta position. Estriol is a major urinary estrogen. During PREGNANCY, a large amount of estriol is produced by the PLACENTA. Isomers with inversion of the hydroxyl group or groups are called epiestriol.
The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.
An acute myeloid leukemia in which 20-30% of the bone marrow or peripheral blood cells are of megakaryocyte lineage. MYELOFIBROSIS or increased bone marrow RETICULIN is common.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Abortion performed because of possible fetal defects.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
An infant during the first month after birth.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Mapping of the KARYOTYPE of a cell.
'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.
The first alpha-globulins to appear in mammalian sera during FETAL DEVELOPMENT and the dominant serum proteins in early embryonic life.
Either one of the two small elongated rectangular bones that together form the bridge of the nose.
A prenatal ultrasonography measurement of the soft tissue behind the fetal neck. Either the translucent area below the skin in the back of the fetal neck (nuchal translucency) or the distance between occipital bone to the outer skin line (nuchal fold) is measured.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
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.
Pregnancy in which the mother and/or FETUS are at greater than normal risk of MORBIDITY or MORTALITY. Causes include inadequate PRENATAL CARE, previous obstetrical history (ABORTION, SPONTANEOUS), pre-existing maternal disease, pregnancy-induced disease (GESTATIONAL HYPERTENSION), and MULTIPLE PREGNANCY, as well as advanced maternal age above 35.
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.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A product of the PLACENTA, and DECIDUA, secreted into the maternal circulation during PREGNANCY. It has been identified as an IGF binding protein (IGFBP)-4 protease that proteolyzes IGFBP-4 and thus increases IGF bioavailability. It is found also in human FIBROBLASTS, ovarian FOLLICULAR FLUID, and GRANULOSA CELLS. The enzyme is a heterotetramer of about 500-kDa.
The beta subunit of human CHORIONIC GONADOTROPIN. Its structure is similar to the beta subunit of LUTEINIZING HORMONE, except for the additional 30 amino acids at the carboxy end with the associated carbohydrate residues. HCG-beta is used as a diagnostic marker for early detection of pregnancy, spontaneous abortion (ABORTION, SPONTANEOUS); ECTOPIC PREGNANCY; HYDATIDIFORM MOLE; CHORIOCARCINOMA; or DOWN SYNDROME.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed)
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Age of the biological father.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
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)
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An individual intelligence test designed primarily for school children to predict school performance and the ability to adjust to everyday demands.
Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents.
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.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A GATA transcription factor that is specifically expressed in hematopoietic lineages and plays an important role in the CELL DIFFERENTIATION of ERYTHROID CELLS and MEGAKARYOCYTES.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
A gonadotropic glycoprotein hormone produced primarily by the PLACENTA. Similar to the pituitary LUTEINIZING HORMONE in structure and function, chorionic gonadotropin is involved in maintaining the CORPUS LUTEUM during pregnancy. CG consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is virtually identical to the alpha subunits of the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity (CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN).
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 presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
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 occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
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 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.
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
The part of a human or animal body connecting the HEAD to the rest of the body.

Modified cuspal relationships of mandibular molar teeth in children with Down's syndrome. (1/2178)

A total of 50 permanent mandibular 1st molars of 26 children with Down's syndrome (DS) were examined from dental casts and 59 permanent mandibular 1st molars of normal children were examined from 33 individuals. The following measurements were performed on both right and left molars (teeth 46 and 36 respectively): (a) the intercusp distances (mb-db, mb-d, mb-dl, db-ml, db-d, db-dl, db-ml, d-dl, d-ml, dl-ml); (b) the db-mb-ml, mb-db-ml, mb-ml-db, d-mb-dl, mb-d-dl, mb-dl-d angles; (c) the area of the pentagon formed by connecting the cusp tips. All intercusp distances were significantly smaller in the DS group. Stepwise logistic regression, applied to all the intercusp distances, was used to design a multivariate probability model for DS and normals. A model based on 2 distances only, mb-dl and mb-db, proved sufficient to discriminate between the teeth of DS and the normal population. The model for tooth 36 for example was as follows: p(DS) = (e(30.6-5.6(mb-dl)+25(mb-db)))/(1 + e(30.6 5.6(mb-dl)+25(mb db))). A similar model for tooth 46 was also created, as well as a model which incorporated both teeth. With respect to the angles, significant differences between DS and normals were found in 3 out of the 6 angles which were measured: the d-mb-dl angle was smaller than in normals, the mb-d-dl angle was higher, and the mb-dl-d angle was smaller. The dl cusp was located closer to the centre of the tooth. The change in size occurs at an early stage, while the change in shape occurs in a later stage of tooth formation in the DS population.  (+info)

Increased phosphoglycerate kinase in the brains of patients with Down's syndrome but not with Alzheimer's disease. (2/2178)

Impaired glucose metabolism in Down's syndrome (DS) has been well-documented in vivo, although information on the underlying biochemical defect is limited and no biochemical studies on glucose handling enzymes have been carried out in the brain. Through gene hunting in fetal DS brain we found an overexpressed sequence homologous to the phosphoglycerate kinase (PGK) gene. This finding was studied further by investigating the activity levels of this key enzyme of carbohydrate metabolism in the brains of patients with DS. PGK activity was determined in five brain regions of nine patients with DS, nine patients with Alzheimer's disease and 14 controls. PGK activity was significantly elevated in the frontal, occipital and temporal lobe and in the cerebellum of patients with DS. PGK activity in corresponding brain regions of patients with Alzheimer's disease was comparable with controls. We conclude that our findings complement previously published data on impaired brain glucose metabolism in DS evaluated by positron emission tomography in clinical studies. Furthermore, we show that in DS, impaired glucose metabolism, represented by increased PGK activity, is a specific finding rather than a secondary phenomenon simply due to neurodegeneration or atrophy. These observations are also supported by data from subtractive hybridization, showing overexpressed PGK in DS brains at the transcriptional level early in life.  (+info)

Amyloid precursor protein metabolism in fibroblasts from individuals with one, two or three copies of the amyloid precursor protein (APP) gene. (3/2178)

Protein kinase C (PKC)-activated modulation of amyloid precursor protein (APP) metabolism has been investigated in natural models of altered APP expression due to the presence of one, two or three copies of the APP gene. We show that levels of APP present in human skin fibroblasts strongly influence the effect of PKC activation of soluble APP (sAPP) release. Thus fibroblasts derived from a patient with a deletion in chromosome 21 including the APP locus (Delta21) had lower levels of both APP mRNA and cell-associated APP, and showed an exaggerated phorbol-ester-induced sAPP release, when compared with fibroblasts from control individuals. In contrast, fibroblasts from chromosome 21 trisomic Down's syndrome patients failed to show a concentration-dependent response to phorbol ester treatment. These results suggest that the levels of APP expression can affect the degree of response to PKC-mediated modulation of the metabolism of this protein.  (+info)

Maternal smoking and Down syndrome: the confounding effect of maternal age. (4/2178)

Inconsistent results have been reported from studies evaluating the association of maternal smoking with birth of a Down syndrome child. Control of known risk factors, particularly maternal age, has also varied across studies. By using a population-based case-control design (775 Down syndrome cases and 7,750 normal controls) and Washington State birth record data for 1984-1994, the authors examined this hypothesized association and found a crude odds ratio of 0.80 (95% confidence interval 0.65-0.98). Controlling for broad categories of maternal age (<35 years, > or =35 years), as described in prior studies, resulted in a negative association (odds ratio = 0.87, 95% confidence interval 0.71-1.07). However, controlling for exact year of maternal age in conjunction with race and parity resulted in no association (odds ratio = 1.00, 95% confidence interval 0.82-1.24). In this study, the prevalence of Down syndrome births increased with increasing maternal age, whereas among controls the reported prevalence of smoking during pregnancy decreased with increasing maternal age. There is a substantial potential for residual confounding by maternal age in studies of maternal smoking and Down syndrome. After adequately controlling for maternal age in this study, the authors found no clear relation between maternal smoking and the risk of Down syndrome.  (+info)

Growth hormone treatment in young children with Down's syndrome: effects on growth and psychomotor development. (5/2178)

BACKGROUND: Learning disability and short stature are cardinal signs of Down's syndrome. Insulin-like growth factor I (IGF-I), regulated by growth hormone (GH) from about 6 months of age, may be involved in brain development. AIMS: To study long term effects of GH on linear growth and psychomotor development in young children with Down's syndrome. Study design-Fifteen children with Down's syndrome were treated with GH for three years from the age of 6 to 9 months (mean, 7.4). Linear growth, psychomotor development, skeletal maturation, serum concentrations of IGF-I and its binding proteins (BPs), and cerebrospinal fluid (CSF) concentrations of IGF-II were studied. RESULTS: The mean height of the study group increased from -1.8 to -0.8 SDS (Swedish standard) during treatment, whereas that of a Down's syndrome control group fell from -1.7 to -2.2 SDS. Growth velocity declined after treatment stopped. Head growth did not accelerate during treatment. No significant difference in mental or gross motor development was found. The low concentrations of serum IGF-I and IGFBP-3 became normal during GH treatment. CONCLUSIONS: GH treatment results in normal growth velocity in Down's syndrome but does not affect head circumference or mental or gross motor development. Growth velocity declines after treatment stops.  (+info)

Trisomy 21 associated transient neonatal myeloproliferation in the absence of Down's syndrome. (6/2178)

Although usually associated with Down's syndrome, transient neonatal myeloproliferation (TMD) can occur in the absence of a constitutional trisomy 21. This report describes two such cases, both of whom had a trisomy 21 restricted to clonal cells. Unlike in previous such reported cases, spontaneous morphological, cytogenetic, and molecular remission in both cases was followed by re-emergence, in one case, of an evolved clone with a more malignant phenotype which required pharmacological intervention. Awareness that trisomy 21 bearing leukaemia in the neonatal period can be transient even in the absence of Down's syndrome is important to prevent unnecessary treatment. Equally, such cases require indefinite follow up as a proportion may have a recurrence which may require treatment.  (+info)

Asynchronous replication of alleles in genomes carrying an extra autosome. (7/2178)

Transcriptional activity of genes appears to be highly related to their replication timing; alleles showing the common biallelic mode of expression replicate highly synchronously, whereas those with a monoallelic mode of expression replicate asynchronously. Here we used FISH to determine the level of synchronisation in replication timing of alleles in amniotic fluid cells derived from normal foetuses and from those with either of the trisomies for autosomes 21, 18 or 13, or for sex chromosomes (47,XXX and 47,XXY). Two pairs of alleles, not associated with the extra chromosome, were studied in subjects with each trisomy and three in normal subjects. In cells derived from normal foetuses and from foetuses with sex chromosome trisomies, each pair of alleles replicated synchronously; yet these very same alleles replicated asynchronously in cells derived from foetuses with trisomy for any of the three autosomes studied. The results suggest that the gross phenotypic abnormalities associated with an extra autosome are brought about not only by over-expression of genes present in three doses, but also by modifications in the expression of genes present in the normal two doses.  (+info)

Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells. (8/2178)

A PCR strategy is described for global amplification of DNA from a single eukaryotic cell that enables the comprehensive analysis of the whole genome. By comparative genomic hybridization, not only gross DNA copy number variations, such as monosomic X and trisomic 21 in single male cells and cells from Down's syndrome patients, respectively, but multiple deletions and amplifications characteristic for human tumor cells are reliably retrieved. As a model of heterogeneous cell populations exposed to selective pressure, we have studied single micrometastatic cells isolated from bone marrow of cancer patients. The observed congruent pattern of comparative genomic hybridization data, loss of heterozygosity, and mutations as detected by sequencing attests to the technique's fidelity and demonstrates its usefulness for assessing clonal evolution of genetic variants in complex populations.  (+info)

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

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.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

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.

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.

Maternal age is a term used to describe the age of a woman at the time she becomes pregnant or gives birth. It is often used in medical and epidemiological contexts to discuss the potential risks, complications, and outcomes associated with pregnancy and childbirth at different stages of a woman's reproductive years.

Advanced maternal age typically refers to women who become pregnant or give birth at 35 years of age or older. This group faces an increased risk for certain chromosomal abnormalities, such as Down syndrome, and other pregnancy-related complications, including gestational diabetes, preeclampsia, and cesarean delivery.

On the other end of the spectrum, adolescent pregnancies (those that occur in women under 20 years old) also come with their own set of potential risks and complications, such as preterm birth, low birth weight, and anemia.

It's important to note that while maternal age can influence pregnancy outcomes, many other factors – including genetics, lifestyle choices, and access to quality healthcare – can also play a significant role in determining the health of both mother and baby during pregnancy and childbirth.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

Estriol is a type of estrogen, which is a female sex hormone. It is produced in the placenta during pregnancy and is used as a marker for fetal growth and development. Estriol levels can be measured in the mother's urine or blood to assess fetal well-being during pregnancy. Additionally, synthetic forms of estriol are sometimes used in hormone replacement therapy to treat symptoms of menopause.

The second trimester of pregnancy is the period between the completion of 12 weeks (the end of the first trimester) and 26 weeks (the beginning of the third trimester) of gestational age. It is often considered the most comfortable period for many pregnant women as the risk of miscarriage decreases significantly, and the symptoms experienced during the first trimester, such as nausea and fatigue, typically improve.

During this time, the uterus expands above the pubic bone, allowing more space for the growing fetus. The fetal development in the second trimester includes significant growth in size and weight, formation of all major organs, and the beginning of movement sensations that the mother can feel. Additionally, the fetus starts to hear, swallow and kick, and the skin is covered with a protective coating called vernix.

Prenatal care during this period typically includes regular prenatal appointments to monitor the mother's health and the baby's growth and development. These appointments may include measurements of the uterus, fetal heart rate monitoring, and screening tests for genetic disorders or other potential issues.

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.

Amniocentesis is a medical procedure in which a small amount of amniotic fluid, which contains fetal cells, is withdrawn from the uterus through a hollow needle inserted into the abdomen of a pregnant woman. This procedure is typically performed between the 16th and 20th weeks of pregnancy.

The main purpose of amniocentesis is to diagnose genetic disorders and chromosomal abnormalities in the developing fetus, such as Down syndrome, Edwards syndrome, and neural tube defects. The fetal cells obtained from the amniotic fluid can be cultured and analyzed for various genetic characteristics, including chromosomal structure and number, as well as specific gene mutations.

Amniocentesis carries a small risk of complications, such as miscarriage, infection, or injury to the fetus. Therefore, it is generally offered to women who have an increased risk of having a baby with a genetic disorder or chromosomal abnormality, such as those over the age of 35, those with a family history of genetic disorders, or those who have had a previous pregnancy affected by a genetic condition.

It's important to note that while amniocentesis can provide valuable information about the health of the fetus, it does not guarantee a completely normal baby, and there are some risks associated with the procedure. Therefore, the decision to undergo amniocentesis should be made carefully, in consultation with a healthcare provider, taking into account the individual circumstances and preferences of each woman.

Acute Megakaryoblastic Leukemia (AMKL) is a type of cancer that affects the blood and bone marrow. Specifically, it is a subtype of acute myeloid leukemia (AML), which is characterized by the rapid growth of abnormal cells in the bone marrow that interfere with the production of normal blood cells.

In AMKL, the abnormal cells are megakaryoblasts, which are immature cells that should develop into platelet-producing cells called megakaryocytes. However, in AMKL, these cells do not mature properly and instead accumulate in the bone marrow and bloodstream, leading to a shortage of healthy blood cells.

Symptoms of AMKL may include fatigue, weakness, frequent infections, easy bruising or bleeding, and the appearance of small red spots on the skin (petechiae). Diagnosis typically involves a combination of physical exam, medical history, blood tests, bone marrow aspiration and biopsy, and sometimes imaging studies.

Treatment for AMKL usually involves a combination of chemotherapy, radiation therapy, and/or stem cell transplantation. The specific treatment plan will depend on several factors, including the patient's age, overall health, and the extent of the disease.

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.

Human chromosomes are thread-like structures that contain genetic material, composed of DNA and proteins, present in the nucleus of human cells. Each chromosome is a single, long DNA molecule that carries hundreds to thousands of genes.

Chromosomes 21, 22, and Y are three of the 23 pairs of human chromosomes. Here's what you need to know about each:

* Chromosome 21 is the smallest human autosomal chromosome, with a total length of about 47 million base pairs. It contains an estimated 200-300 genes and is associated with several genetic disorders, most notably Down syndrome, which occurs when there is an extra copy of this chromosome (trisomy 21).
* Chromosome 22 is the second smallest human autosomal chromosome, with a total length of about 50 million base pairs. It contains an estimated 500-600 genes and is associated with several genetic disorders, including DiGeorge syndrome and cat-eye syndrome.
* The Y chromosome is one of the two sex chromosomes (the other being the X chromosome) and is found only in males. It is much smaller than the X chromosome, with a total length of about 59 million base pairs and an estimated 70-200 genes. The Y chromosome determines maleness by carrying the gene for the testis-determining factor (TDF), which triggers male development in the embryo.

It's worth noting that while we have a standard set of 23 pairs of chromosomes, there can be variations and abnormalities in the number or structure of these chromosomes that can lead to genetic disorders.

Nephrotic syndrome is a group of symptoms that indicate kidney damage, specifically damage to the glomeruli—the tiny blood vessel clusters in the kidneys that filter waste and excess fluids from the blood. The main features of nephrotic syndrome are:

1. Proteinuria (excess protein in urine): Large amounts of a protein called albumin leak into the urine due to damaged glomeruli, which can't properly filter proteins. This leads to low levels of albumin in the blood, causing fluid buildup and swelling.
2. Hypoalbuminemia (low blood albumin levels): As albumin leaks into the urine, the concentration of albumin in the blood decreases, leading to hypoalbuminemia. This can cause edema (swelling), particularly in the legs, ankles, and feet.
3. Edema (fluid retention and swelling): With low levels of albumin in the blood, fluids move into the surrounding tissues, causing swelling or puffiness. The swelling is most noticeable around the eyes, face, hands, feet, and abdomen.
4. Hyperlipidemia (high lipid/cholesterol levels): The kidneys play a role in regulating lipid metabolism. Damage to the glomeruli can lead to increased lipid production and high cholesterol levels in the blood.

Nephrotic syndrome can result from various underlying kidney diseases, such as minimal change disease, membranous nephropathy, or focal segmental glomerulosclerosis. Treatment depends on the underlying cause and may include medications to control inflammation, manage high blood pressure, and reduce proteinuria. In some cases, dietary modifications and lifestyle changes are also recommended.

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.

Sjögren's syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, particularly the tear and salivary glands. This can lead to symptoms such as dry eyes, dry mouth, and dryness in other areas of the body. In some cases, it may also affect other organs, leading to a variety of complications.

There are two types of Sjögren's syndrome: primary and secondary. Primary Sjögren's syndrome occurs when the condition develops on its own, while secondary Sjögren's syndrome occurs when it develops in conjunction with another autoimmune disease, such as rheumatoid arthritis or lupus.

The exact cause of Sjögren's syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment typically focuses on relieving symptoms and may include artificial tears, saliva substitutes, medications to stimulate saliva production, and immunosuppressive drugs in more severe cases.

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.

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.

Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

'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.

Alpha-fetoprotein (AFP) is a protein produced by the yolk sac and the liver during fetal development. In adults, AFP is normally present in very low levels in the blood. However, abnormal production of AFP can occur in certain medical conditions, such as:

* Liver cancer or hepatocellular carcinoma (HCC)
* Germ cell tumors, including non-seminomatous testicular cancer and ovarian cancer
* Hepatitis or liver inflammation
* Certain types of benign liver disease, such as cirrhosis or hepatic adenomas

Elevated levels of AFP in the blood can be detected through a simple blood test. This test is often used as a tumor marker to help diagnose and monitor certain types of cancer, particularly HCC. However, it's important to note that an elevated AFP level alone is not enough to diagnose cancer, and further testing is usually needed to confirm the diagnosis. Additionally, some non-cancerous conditions can also cause elevated AFP levels, so it's important to interpret the test results in the context of the individual's medical history and other diagnostic tests.

The nasal bones are a pair of small, thin bones located in the upper part of the face, specifically in the middle of the nose. They articulate with each other at the nasal bridge and with the frontal bone above, the maxillae (upper jaw bones) on either side, and the septal cartilage inside the nose. The main function of the nasal bones is to form the bridge of the nose and protect the nasal cavity. Any damage to these bones can result in a fracture or broken nose.

Nuchal translucency measurement (NT) is a prenatal ultrasound assessment used to screen for chromosomal abnormalities, particularly Down syndrome (Trisomy 21), and other fetal abnormalities. The nuchal translucency refers to the sonolucent space or fluid-filled area at the back of the neck of a developing fetus. During the first trimester of pregnancy, an increased nuchal translucency measurement may indicate an increased risk for certain genetic disorders and structural defects.

The procedure involves measuring the thickness of this fluid-filled space using ultrasound imaging, typically between 11 and 14 weeks of gestation. A larger nuchal translucency measurement (usually greater than 3 mm) may suggest an increased risk for chromosomal abnormalities or structural issues in the fetus. The NT measurement is often combined with maternal age, biochemical markers (such as PAPP-A and free beta-hCG), and sometimes first-trimester fetal heart rate assessment to calculate the overall risk of chromosomal abnormalities in the fetus.

It's important to note that while an increased nuchal translucency measurement can indicate a higher risk for genetic disorders, it does not confirm their presence. Further diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, may be recommended to obtain a definitive diagnosis.

Nondisjunction is a genetic term that refers to the failure of homologous chromosomes or sister chromatids to properly separate during cell division, resulting in an abnormal number of chromosomes in the daughter cells. This can occur during either mitosis (resulting in somatic mutations) or meiosis (leading to gametes with an incorrect number of chromosomes).

In humans, nondisjunction of chromosome 21 during meiosis is the most common cause of Down syndrome, resulting in three copies of chromosome 21 (trisomy 21) in the affected individual. Nondisjunction can also result in other aneuploidies, such as Turner syndrome (X monosomy), Klinefelter syndrome (XXY), and Edwards syndrome (trisomy 18).

Nondisjunction is typically a random event, although maternal age has been identified as a risk factor for nondisjunction during meiosis. In some cases, structural chromosomal abnormalities or genetic factors may predispose an individual to nondisjunction events.

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.

High-risk pregnancy is a term used to describe a situation where the mother or the fetus has an increased risk of developing complications during pregnancy, labor, delivery, or in the postpartum period. These risks may be due to pre-existing medical conditions in the mother, such as diabetes, hypertension, heart disease, kidney disease, autoimmune disorders, or infectious diseases like HIV/AIDS. Other factors that can contribute to a high-risk pregnancy include advanced maternal age (35 years and older), obesity, multiple gestations (twins, triplets, etc.), fetal growth restriction, placental issues, and a history of previous pregnancy complications or preterm labor.

High-risk pregnancies require specialized care and monitoring by healthcare professionals, often involving maternal-fetal medicine specialists, obstetricians, perinatologists, and neonatologists. Regular prenatal care, frequent checkups, ultrasound monitoring, and sometimes additional testing and interventions may be necessary to ensure the best possible outcomes for both the mother and the baby.

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.

Williams Syndrome is a rare genetic disorder caused by the deletion of a small portion of chromosome 7. This results in various developmental and medical problems, which can include:

1. Distinctive facial features such as a broad forehead, wide-set eyes, short nose, and full lips.
2. Cardiovascular disease, particularly narrowed or missing blood vessels near the heart.
3. Developmental delays and learning disabilities, although most people with Williams Syndrome have an IQ in the mild to moderate range of intellectual disability.
4. A unique pattern of strengths and weaknesses in cognitive skills, such as strong language skills but significant difficulty with visual-spatial tasks.
5. Overly friendly or sociable personality, often displaying a lack of fear or wariness around strangers.
6. Increased risk of anxiety and depression.
7. Sensitive hearing and poor depth perception.
8. Short stature in adulthood.

Williams Syndrome affects about 1 in every 10,000 people worldwide, regardless of race or ethnic background. It is not an inherited disorder, but rather a spontaneous genetic mutation.

Myelodysplastic syndromes (MDS) are a group of diverse bone marrow disorders characterized by dysplasia (abnormal development or maturation) of one or more types of blood cells or by ineffective hematopoiesis, resulting in cytopenias (lower than normal levels of one or more types of blood cells). MDS can be classified into various subtypes based on the number and type of cytopenias, the degree of dysplasia, the presence of ring sideroblasts, and cytogenetic abnormalities.

The condition primarily affects older adults, with a median age at diagnosis of around 70 years. MDS can evolve into acute myeloid leukemia (AML) in approximately 30-40% of cases. The pathophysiology of MDS involves genetic mutations and chromosomal abnormalities that lead to impaired differentiation and increased apoptosis of hematopoietic stem and progenitor cells, ultimately resulting in cytopenias and an increased risk of developing AML.

The diagnosis of MDS typically requires a bone marrow aspiration and biopsy, along with cytogenetic and molecular analyses to identify specific genetic mutations and chromosomal abnormalities. Treatment options for MDS depend on the subtype, severity of cytopenias, and individual patient factors. These may include supportive care measures, such as transfusions and growth factor therapy, or more aggressive treatments, such as chemotherapy and stem cell transplantation.

Pregnancy-associated plasma protein-A (PAPP-A) is a protease that is often used as a biomarker in early pregnancy. It is a protein that is produced by the placenta and can be detected in the mother's bloodstream during pregnancy.

In early pregnancy, low levels of PAPP-A may indicate an increased risk for certain complications, such as preeclampsia or fetal growth restriction. High levels of PAPP-A, on the other hand, may be associated with an increased risk of chromosomal abnormalities, such as Down syndrome.

It is important to note that while PAPP-A levels can provide valuable information about the health of a pregnancy, they are just one piece of the puzzle and should be considered in conjunction with other factors, such as maternal age, medical history, and ultrasound results. Your healthcare provider will use this information along with other tests to assess your risk for certain complications and develop an appropriate plan of care.

Chorionic Gonadotropin, beta Subunit, Human (β-hCG) is a protein that is produced by the placenta during pregnancy. It is a component of human chorionic gonadotropin (hCG), which is a hormone that is composed of two subunits: alpha and beta. The β-hCG subunit is specific to hCG and is not found in other hormones, making it a useful marker for pregnancy and certain medical conditions.

During early pregnancy, the levels of β-hCG increase rapidly and can be detected in the blood and urine. This has led to the development of pregnancy tests that detect the presence of β-hCG to confirm pregnancy. In addition to its role in pregnancy, β-hCG is also used as a tumor marker for certain types of cancer, such as germ cell tumors and choriocarcinoma.

Elevated levels of β-hCG may indicate the presence of a molar pregnancy, a condition in which a fertilized egg implants in the uterus but does not develop properly. In some cases, a molar pregnancy can become cancerous and require treatment. Therefore, monitoring β-hCG levels during pregnancy is important for detecting any potential complications.

Cushing syndrome is a hormonal disorder that occurs when your body is exposed to high levels of the hormone cortisol for a long time. This can happen due to various reasons such as taking high doses of corticosteroid medications or tumors that produce cortisol or adrenocorticotropic hormone (ACTH).

The symptoms of Cushing syndrome may include:

* Obesity, particularly around the trunk and upper body
* Thinning of the skin, easy bruising, and purple or red stretch marks on the abdomen, thighs, breasts, and arms
* Weakened bones, leading to fractures
* High blood pressure
* High blood sugar
* Mental changes such as depression, anxiety, and irritability
* Increased fatigue and weakness
* Menstrual irregularities in women
* Decreased fertility in men

Cushing syndrome can be diagnosed through various tests, including urine and blood tests to measure cortisol levels, saliva tests, and imaging tests to locate any tumors. Treatment depends on the cause of the condition but may include surgery, radiation therapy, chemotherapy, or adjusting medication dosages.

A "false positive reaction" in medical testing refers to a situation where a diagnostic test incorrectly indicates the presence of a specific condition or disease in an individual who does not actually have it. This occurs when the test results give a positive outcome, while the true health status of the person is negative or free from the condition being tested for.

False positive reactions can be caused by various factors including:

1. Presence of unrelated substances that interfere with the test result (e.g., cross-reactivity between similar molecules).
2. Low specificity of the test, which means it may detect other conditions or irrelevant factors as positive.
3. Contamination during sample collection, storage, or analysis.
4. Human errors in performing or interpreting the test results.

False positive reactions can have significant consequences, such as unnecessary treatments, anxiety, and increased healthcare costs. Therefore, it is essential to confirm any positive test result with additional tests or clinical evaluations before making a definitive diagnosis.

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.

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.

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.

"Paternal age" is a term used to describe the age of a father at the time of conception. It is often considered in relation to the potential impact on genetic health and the risk of certain genetic conditions in offspring. As a father's age increases, there is a higher chance of mutations occurring during the formation of sperm cells, which can potentially lead to an increased risk of certain genetic disorders such as Apert syndrome, Crouzon syndrome, and Schinzel-Giedion midface retraction syndrome. However, it is important to note that while the risk does increase with paternal age, the overall likelihood remains relatively low.

Acute Coronary Syndrome (ACS) is a term used to describe a range of conditions associated with sudden, reduced blood flow to the heart muscle. This reduction in blood flow, commonly caused by blood clots forming in coronary arteries, can lead to damage or death of the heart muscle and is often characterized by symptoms such as chest pain, shortness of breath, and fatigue.

There are three main types of ACS:

1. Unstable Angina: This occurs when there is reduced blood flow to the heart muscle, causing chest pain or discomfort, but the heart muscle is not damaged. It can be a warning sign for a possible future heart attack.
2. Non-ST Segment Elevation Myocardial Infarction (NSTEMI): This type of heart attack occurs when there is reduced blood flow to the heart muscle, causing damage or death of some of the muscle cells. However, the electrical activity of the heart remains relatively normal.
3. ST Segment Elevation Myocardial Infarction (STEMI): This is a serious and life-threatening type of heart attack that occurs when there is a complete blockage in one or more of the coronary arteries, causing extensive damage to the heart muscle. The electrical activity of the heart is significantly altered, which can lead to dangerous heart rhythms and even cardiac arrest.

Immediate medical attention is required for anyone experiencing symptoms of ACS, as prompt treatment can help prevent further damage to the heart muscle and reduce the risk of complications or death. Treatment options may include medications, lifestyle changes, and procedures such as angioplasty or bypass surgery.

Polycyctic Ovary Syndrome (PCOS) is a complex endocrine-metabolic disorder characterized by the presence of hyperandrogenism (excess male hormones), ovulatory dysfunction, and polycystic ovaries. The Rotterdam criteria are commonly used for diagnosis, which require at least two of the following three features:

1. Oligo- or anovulation (irregular menstrual cycles)
2. Clinical and/or biochemical signs of hyperandrogenism (e.g., hirsutism, acne, or high levels of androgens in the blood)
3. Polycystic ovaries on ultrasound examination (presence of 12 or more follicles measuring 2-9 mm in diameter, or increased ovarian volume >10 mL)

The exact cause of PCOS remains unclear, but it is believed to involve a combination of genetic and environmental factors. Insulin resistance and obesity are common findings in women with PCOS, which can contribute to the development of metabolic complications such as type 2 diabetes, dyslipidemia, and cardiovascular disease.

Management of PCOS typically involves a multidisciplinary approach that includes lifestyle modifications (diet, exercise, weight loss), medications to regulate menstrual cycles and reduce hyperandrogenism (e.g., oral contraceptives, metformin, anti-androgens), and fertility treatments if desired. Regular monitoring of metabolic parameters and long-term follow-up are essential for optimal management and prevention of complications.

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.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

DiGeorge syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is also known as 22q11.2 deletion syndrome. The symptoms and severity can vary widely among affected individuals, but often include birth defects such as congenital heart disease, poor immune system function, and palatal abnormalities. Characteristic facial features, learning disabilities, and behavioral problems are also common. Some people with DiGeorge syndrome may have mild symptoms while others may be more severely affected. The condition is typically diagnosed through genetic testing. Treatment is focused on managing the specific symptoms and may include surgery, medications, and therapy.

Horner syndrome, also known as Horner's syndrome or oculosympathetic palsy, is a neurological disorder characterized by the interruption of sympathetic nerve pathways that innervate the head and neck, leading to a constellation of signs affecting the eye and face on one side of the body.

The classic triad of symptoms includes:

1. Ptosis (drooping) of the upper eyelid: This is due to the weakness or paralysis of the levator palpebrae superioris muscle, which is responsible for elevating the eyelid.
2. Miosis (pupillary constriction): The affected pupil becomes smaller in size compared to the other side, and it may not react as robustly to light.
3. Anhydrosis (decreased sweating): There is reduced or absent sweating on the ipsilateral (same side) of the face, particularly around the forehead and upper eyelid.

Horner syndrome can be caused by various underlying conditions, such as brainstem stroke, tumors, trauma, or certain medical disorders affecting the sympathetic nervous system. The diagnosis typically involves a thorough clinical examination, pharmacological testing, and sometimes imaging studies to identify the underlying cause. Treatment is directed towards managing the underlying condition responsible for Horner syndrome.

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.

Prader-Willi Syndrome (PWS) is a genetic disorder that affects several parts of the body and is characterized by a range of symptoms including:

1. Developmental delays and intellectual disability.
2. Hypotonia (low muscle tone) at birth, which can lead to feeding difficulties in infancy.
3. Excessive appetite and obesity, typically beginning around age 2, due to a persistent hunger drive and decreased satiety.
4. Behavioral problems such as temper tantrums, stubbornness, and compulsive behaviors.
5. Hormonal imbalances leading to short stature, small hands and feet, incomplete sexual development, and decreased bone density.
6. Distinctive facial features including a thin upper lip, almond-shaped eyes, and a narrowed forehead.
7. Sleep disturbances such as sleep apnea or excessive daytime sleepiness.

PWS is caused by the absence of certain genetic material on chromosome 15, which results in abnormal gene function. It affects both males and females equally and has an estimated incidence of 1 in 10,000 to 30,000 live births. Early diagnosis and management can help improve outcomes for individuals with PWS.

Long QT syndrome (LQTS) is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), which can potentially trigger rapid, chaotic heartbeats known as ventricular tachyarrhythmias, such as torsades de pointes. These arrhythmias can be life-threatening and lead to syncope (fainting) or sudden cardiac death. LQTS is often congenital but may also be acquired due to certain medications, medical conditions, or electrolyte imbalances. It's essential to identify and manage LQTS promptly to reduce the risk of severe complications.

The Stanford-Binet Test is a widely used, individually administered intelligence test that was revised from the original Binet-Simon Scale by Lewis Terman at Stanford University in 1916. It is designed to measure various cognitive abilities and intelligence across a broad age range, from early childhood to adulthood. The test assesses five factors of cognitive ability: fluid reasoning, knowledge, quantitative reasoning, visual-spatial processing, and working memory.

The Stanford-Binet Test consists of several subtests that measure different skills and abilities. It yields a composite score, called the Intelligence Quotient (IQ), which is a ratio of mental age to chronological age, multiplied by 100. The test also provides detailed information about an individual's strengths and weaknesses in various areas of cognitive functioning.

Over the years, the Stanford-Binet Test has undergone several revisions to improve its psychometric properties, update its content, and reflect current theories of intelligence. The most recent version, the Stanford-Binet Fifth Edition (SB5), was published in 2003 and includes updated norms, a broader age range (2-85+ years), and a more comprehensive assessment of cognitive abilities.

The Stanford-Binet Test is used for various purposes, including identifying individuals who may have intellectual disabilities or giftedness, educational planning, career counseling, and research. It is considered a reliable and valid measure of intelligence, but like all psychological tests, it should be administered and interpreted by trained professionals who are aware of its limitations and potential sources of bias.

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.

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

Guillain-Barré syndrome (GBS) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the peripheral nervous system, leading to muscle weakness, tingling sensations, and sometimes paralysis. The peripheral nervous system includes the nerves that control our movements and transmit signals from our skin, muscles, and joints to our brain.

The onset of GBS usually occurs after a viral or bacterial infection, such as respiratory or gastrointestinal infections, or following surgery, vaccinations, or other immune system triggers. The exact cause of the immune response that leads to GBS is not fully understood.

GBS typically progresses rapidly over days or weeks, with symptoms reaching their peak within 2-4 weeks after onset. Most people with GBS experience muscle weakness that starts in the lower limbs and spreads upward to the upper body, arms, and face. In severe cases, the diaphragm and chest muscles may become weakened, leading to difficulty breathing and requiring mechanical ventilation.

The diagnosis of GBS is based on clinical symptoms, nerve conduction studies, and sometimes cerebrospinal fluid analysis. Treatment typically involves supportive care, such as pain management, physical therapy, and respiratory support if necessary. In addition, plasma exchange (plasmapheresis) or intravenous immunoglobulin (IVIG) may be used to reduce the severity of symptoms and speed up recovery.

While most people with GBS recover completely or with minimal residual symptoms, some may experience long-term disability or require ongoing medical care. The prognosis for GBS varies depending on the severity of the illness and the individual's age and overall health.

Hemolytic-Uremic Syndrome (HUS) is a serious condition that affects the blood and kidneys. It is characterized by three major features: the breakdown of red blood cells (hemolysis), the abnormal clotting of small blood vessels (microthrombosis), and acute kidney failure.

The breakdown of red blood cells leads to the release of hemoglobin into the bloodstream, which can cause anemia. The microthrombi can obstruct the flow of blood in the kidneys' filtering system (glomeruli), leading to damaged kidney function and potentially acute kidney failure.

HUS is often caused by a bacterial infection, most commonly Escherichia coli (E. coli) that produces Shiga toxins. This form of HUS is known as STEC-HUS or Stx-HUS. Other causes include infections with other bacteria, viruses, medications, pregnancy complications, and certain medical conditions such as autoimmune diseases.

Symptoms of HUS may include fever, fatigue, decreased urine output, blood in the stool, swelling in the face, hands, or feet, and irritability or confusion. Treatment typically involves supportive care, including dialysis for kidney failure, transfusions to replace lost red blood cells, and managing high blood pressure. In severe cases, a kidney transplant may be necessary.

Alzheimer's disease is a progressive disorder that causes brain cells to waste away (degenerate) and die. It's the most common cause of dementia — a continuous decline in thinking, behavioral and social skills that disrupts a person's ability to function independently.

The early signs of the disease include forgetting recent events or conversations. As the disease progresses, a person with Alzheimer's disease will develop severe memory impairment and lose the ability to carry out everyday tasks.

Currently, there's no cure for Alzheimer's disease. However, treatments can temporarily slow the worsening of dementia symptoms and improve quality of life.

Duodenal obstruction is a medical condition characterized by the blockage or impediment of the normal flow of contents through the duodenum, which is the first part of the small intestine. This blockage can be partial or complete and can be caused by various factors such as:

1. Congenital abnormalities: Duodenal atresia or stenosis, where there is a congenital absence or narrowing of a portion of the duodenum.
2. Inflammatory conditions: Duodenitis, Crohn's disease, or tumors that cause swelling and inflammation in the duodenum.
3. Mechanical obstructions: Gallstones, tumors, strictures, or adhesions (scar tissue) from previous surgeries can physically block the duodenum.
4. Neuromuscular disorders: Conditions like progressive systemic sclerosis or amyloidosis that affect the neuromuscular function of the intestines can lead to duodenal obstruction.

Symptoms of duodenal obstruction may include nausea, vomiting (often with bilious or fecal matter), abdominal pain, distention, and decreased bowel movements. Diagnosis typically involves imaging studies such as X-rays, CT scans, or upper gastrointestinal series to visualize the blockage. Treatment depends on the underlying cause but may involve surgery, endoscopic procedures, or medications to manage symptoms and address the obstruction.

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.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Compartment syndromes refer to a group of conditions characterized by increased pressure within a confined anatomical space (compartment), leading to impaired circulation and nerve function. These compartments are composed of bones, muscles, tendons, blood vessels, and nerves, surrounded by a tough fibrous fascial covering that does not expand easily.

There are two main types of compartment syndromes: acute and chronic.

1. Acute Compartment Syndrome (ACS): This is a medical emergency that typically occurs after trauma, fractures, or prolonged compression of the affected limb. The increased pressure within the compartment reduces blood flow to the muscles and nerves, causing ischemia, pain, and potential muscle and nerve damage if not promptly treated with fasciotomy (surgical release of the fascial covering). Symptoms include severe pain disproportionate to the injury, pallor, paresthesia (abnormal sensation), pulselessness, and paralysis.
2. Chronic Compartment Syndrome (CCS) or Exertional Compartment Syndrome: This condition is caused by repetitive physical activities that lead to increased compartment pressure over time. The symptoms are usually reversible with rest and may include aching, cramping, tightness, or swelling in the affected limb during exercise. CCS rarely leads to permanent muscle or nerve damage if managed appropriately with activity modification, physical therapy, and occasionally surgical intervention (fasciotomy or fasciectomy).

Early recognition and appropriate management of compartment syndromes are crucial for preventing long-term complications such as muscle necrosis, contractures, and nerve damage.

GATA1 (Global Architecture of Tissue/stage-specific Transcription Factors 1) is a transcription factor that belongs to the GATA family, which recognizes and binds to the (A/T)GATA(A/G) motif in the DNA. It plays a crucial role in the development and differentiation of hematopoietic cells, particularly erythroid, megakaryocytic, eosinophilic, and mast cell lineages.

GATA1 regulates gene expression by binding to specific DNA sequences and recruiting other co-factors that modulate chromatin structure and transcriptional activity. Mutations in the GATA1 gene can lead to various blood disorders such as congenital dyserythropoietic anemia type II, Diamond-Blackfan anemia, acute megakaryoblastic leukemia (AMKL), and myelodysplastic syndrome.

In summary, GATA1 Transcription Factor is a protein that binds to specific DNA sequences in the genome and regulates gene expression, playing a critical role in hematopoietic cell development and differentiation.

Tourette Syndrome (TS) is a neurological disorder characterized by the presence of multiple motor tics and at least one vocal (phonic) tic. These tics are sudden, repetitive, rapid, involuntary movements or sounds that occur for more than a year and are not due to substance use or other medical conditions. The symptoms typically start before the age of 18, with the average onset around 6-7 years old.

The severity, frequency, and types of tics can vary greatly among individuals with TS and may change over time. Common motor tics include eye blinking, facial grimacing, shoulder shrugging, and head or limb jerking. Vocal tics can range from simple sounds like throat clearing, coughing, or barking to more complex phrases or words.

In some cases, TS may be accompanied by co-occurring conditions such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and depression. These associated symptoms can sometimes have a greater impact on daily functioning than the tics themselves.

The exact cause of Tourette Syndrome remains unclear, but it is believed to involve genetic factors and abnormalities in certain brain regions involved in movement control and inhibition. There is currently no cure for TS, but various treatments, including behavioral therapy and medications, can help manage the symptoms and improve quality of life.

A biological marker, often referred to as a biomarker, is a measurable indicator that reflects the presence or severity of a disease state, or a response to a therapeutic intervention. Biomarkers can be found in various materials such as blood, tissues, or bodily fluids, and they can take many forms, including molecular, histologic, radiographic, or physiological measurements.

In the context of medical research and clinical practice, biomarkers are used for a variety of purposes, such as:

1. Diagnosis: Biomarkers can help diagnose a disease by indicating the presence or absence of a particular condition. For example, prostate-specific antigen (PSA) is a biomarker used to detect prostate cancer.
2. Monitoring: Biomarkers can be used to monitor the progression or regression of a disease over time. For instance, hemoglobin A1c (HbA1c) levels are monitored in diabetes patients to assess long-term blood glucose control.
3. Predicting: Biomarkers can help predict the likelihood of developing a particular disease or the risk of a negative outcome. For example, the presence of certain genetic mutations can indicate an increased risk for breast cancer.
4. Response to treatment: Biomarkers can be used to evaluate the effectiveness of a specific treatment by measuring changes in the biomarker levels before and after the intervention. This is particularly useful in personalized medicine, where treatments are tailored to individual patients based on their unique biomarker profiles.

It's important to note that for a biomarker to be considered clinically valid and useful, it must undergo rigorous validation through well-designed studies, including demonstrating sensitivity, specificity, reproducibility, and clinical relevance.

Chorionic Gonadotropin (hCG) is a hormone that is produced during pregnancy. It is produced by the placenta after implantation of the fertilized egg in the uterus. The main function of hCG is to prevent the disintegration of the corpus luteum, which is a temporary endocrine structure that forms in the ovary after ovulation and produces progesterone during early pregnancy. Progesterone is essential for maintaining the lining of the uterus and supporting the pregnancy.

hCG can be detected in the blood or urine as early as 10 days after conception, and its levels continue to rise throughout the first trimester of pregnancy. In addition to its role in maintaining pregnancy, hCG is also used as a clinical marker for pregnancy and to monitor certain medical conditions such as gestational trophoblastic diseases.

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.

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies in the blood. These antibodies are directed against phospholipids, a type of fat molecule found in cell membranes and plasma lipoproteins. The presence of these antibodies can lead to abnormal blood clotting, which can cause serious complications such as stroke, heart attack, deep vein thrombosis, and pulmonary embolism.

APS can occur either on its own (primary APS) or in conjunction with other autoimmune disorders, such as systemic lupus erythematosus (secondary APS). The exact cause of APS is not fully understood, but it is believed to involve a combination of genetic and environmental factors.

Symptoms of APS can vary widely depending on the location and severity of the blood clots. They may include:

* Recurrent miscarriages or stillbirths
* Blood clots in the legs, lungs, or other parts of the body
* Skin ulcers or lesions
* Headaches, seizures, or stroke-like symptoms
* Kidney problems
* Heart valve abnormalities

Diagnosis of APS typically involves blood tests to detect the presence of antiphospholipid antibodies. Treatment may include medications to prevent blood clots, such as anticoagulants and antiplatelet agents, as well as management of any underlying autoimmune disorders.

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.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

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.

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.

Porcine Reproductive and Respiratory Syndrome (PRRS) is a viral disease that affects pigs, causing reproductive failure in breeding herds and respiratory illness in young pigs. The disease is caused by the PRRS virus, which belongs to the family Arteriviridae.

In pregnant sows, PRRS can cause abortions, stillbirths, mummified fetuses, and weak or infertile offspring. In growing pigs, it can lead to pneumonia, reduced growth rates, and increased susceptibility to other infections. The virus is highly contagious and can spread rapidly within a herd through direct contact with infected pigs, aerosols, or contaminated fomites.

PRRS is a significant disease of global importance, causing substantial economic losses to the swine industry. Control measures include biosecurity practices, vaccination, and testing to detect and eliminate the virus from affected herds. However, there is no specific treatment for PRRS, and eradication of the virus from the pig population is unlikely due to its widespread distribution and ability to persist in infected animals and the environment.

Klinefelter Syndrome: A genetic disorder in males, caused by the presence of one or more extra X chromosomes, typically resulting in XXY karyotype. It is characterized by small testes, infertility, gynecomastia (breast enlargement), tall stature, and often mild to moderate intellectual disability. The symptoms can vary greatly among individuals with Klinefelter Syndrome. Some men may not experience any significant health problems and may never be diagnosed, while others may have serious medical or developmental issues that require treatment. It is one of the most common chromosomal disorders, affecting about 1 in every 500-1,000 newborn males.

Prevalence, in medical terms, refers to the total number of people in a given population who have a particular disease or condition at a specific point in time, or over a specified period. It is typically expressed as a percentage or a ratio of the number of cases to the size of the population. Prevalence differs from incidence, which measures the number of new cases that develop during a certain period.

In medical terms, the "neck" is defined as the portion of the body that extends from the skull/head to the thorax or chest region. It contains 7 cervical vertebrae, muscles, nerves, blood vessels, lymphatic vessels, and glands (such as the thyroid gland). The neck is responsible for supporting the head, allowing its movement in various directions, and housing vital structures that enable functions like respiration and circulation.

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"Susac Syndrome". Cleveland Clinic. Retrieved 2016-03-01. "Calling All Cases of Susac Syndrome!". NOVEL: Patient Rare Disease ... Hoyt was the first to call the syndrome Susac syndrome and later Robert Daroff asked Dr. Susac to write an editorial in ... can mimic the MRI changes seen in patients with Susac's syndrome. However, the callosal lesions in Susac's syndrome are ... Rare syndromes, Syndromes affecting the nervous system, Diseases named for discoverer). ...
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... was first described by American neurosurgeon Harvey Cushing in 1932. Cushing's syndrome may also occur in ... "Cushing syndrome". mayoclinic.org. Mayo Clinic. Retrieved June 5, 2022. "Cushing's Syndrome". National Endocrine and Metabolic ... While all Cushing's disease gives Cushing's syndrome, not all Cushing's syndrome is due to Cushing's disease. Several possible ... This may be seen in a paraneoplastic syndrome. When Cushing's syndrome is suspected, either a dexamethasone suppression test ( ...
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SC Syndrome Pseudothalidomide Syndrome Roberts-SC Phocomelia Syndrome SC Phocomelia Syndrome Appelt-Gerken-Lenz Syndrome SC ... Roberts Syndrome and Pseudothalidomide Syndrome (SC Syndrome) are considered to be the same disorder.[citation needed] The ... Herrmann would call the disorder Pseudothalidomide Syndrome or SC Syndrome (SC was for the initials of the surnames of the two ... "Roberts syndrome." "Roberts syndrome." Genetics Home Reference. 2010. U.S. National Library of Medicine. 13 March 2010. Downer ...
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... or Terson's syndrome is the occurrence of a vitreous hemorrhage of the human eye in association with ... In subarachnoid hemorrhage, 13% of patients have Terson's syndrome, which is associated with more severe SAH (higher Hunt-Hess ... Medele RJ, Stummer W, Mueller AJ, Steiger HJ, Reulen HJ (1998). "Terson's syndrome in subarachnoid hemorrhage and severe brain ... eMedicine topic v t e (Articles with short description, Short description is different from Wikidata, Eye diseases, Syndromes ...
Young syndrome at NIH's Office of Rare Diseases Young's syndrome - General Practice Notebook Definition: Young syndrome from ... The syndrome was named after Donald Young, the urologist who first made observations of the clinical signs of the syndrome in ... Young's syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome and Barry-Perkins-Young ... Young's syndrome is caused by helminthiasis where specific parasites are attacking the reproductive organs. Infertility Cystic ...
... is a rare X-linked dominant genetic disorder. The incidence of this condition is less than 1 ... The first features of this syndrome noted were the abnormal teeth, which were described by Hayward in 1980. Surapornsawasd T, ... The inheritance is X-linked dominant.[citation needed] A genetically related disorder is Lenz microphthalmia syndrome. ... are the characteristic triad found in this syndrome. Typical features of the condition include:[citation needed] Face Deep set ...
MedGen-Yao Syndrome Genetics Home Reference-Yao Syndrome (Wikipedia articles incorporating text from the United States National ... Yao Syndrome inheritance is classified as Multifactorial Inheritance. "Yao syndrome". www.uniprot.org. UniProt. Retrieved 2019- ... Yao syndrome (YAOS) (formerly called NOD2-associated autoinflammatory disease) is an autoinflammatory syndrome involving ... "Yao syndrome". Genetics Home Reference. National Center for Biotechnology Information, U.S. National Library of Medicine. ...
"Cantu syndrome , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved ... Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. Less than 50 cases ... "Cantú syndrome". Genetics Home Reference. Retrieved 2017-03-23. Pubchem. "Prostaglandin E2 , C20H32O5 - PubChem". pubchem.ncbi. ... Grange, Dorothy K.; Nichols, Colin G.; Singh, Gautam K. (1993-01-01). "Cantú Syndrome and Related Disorders". In Pagon, Roberta ...
... (MFS) (also: microtropia or microstrabismus) is an eye condition defined by less-than-perfect binocular ... "Monofixation Syndrome: eMedicine Ophthalmology". 2017-01-07. {{cite journal}}: Cite journal requires ,journal= (help) Guthrie ...
... is a medical condition in which affected individuals have multiple birth defects in different organ systems. It ... Other characteristics common in SHORT syndrome are a triangular face, a prominent forehead, small chin with a dimple, a loss of ... "Malformation syndromes. A selected miscellany". Birth Defects Orig. Artic. Ser. 11 (2): 39-50. PMID 819054. v t e (Articles ... Syndromes, All stub articles, Disease stubs, Human reproduction stubs). ...
... research study of Inherited Bone Marrow Failure Syndromes (IBMFS) GeneReviews: Pearson syndrome Archived 2007- ... Rare syndromes, Syndromes affecting blood, Syndromes affecting the endocrine system). ... Pearson syndrome is very rare, less than a hundred cases have been reported in medical literature worldwide. The syndrome was ... With Pearson syndrome, the bone marrow fails to produce white blood cells called neutrophils. The syndrome also leads to anemia ...
Familial occurrence of Brown syndrome has been reported. Strabismus Strabismus surgery Pediatric ophthalmology Duane syndrome ... and simulated sheath syndrome, which characterized all cases in which the clinical features of a sheath syndrome caused by ... superior oblique click syndrome). Diagnosis of Brown syndrome usually happens during a routine ophthalmologic appointment.[ ... he redefined the sheath syndrome into the following divisions: true sheath syndrome, which categorized only the cases that had ...
... or triple edema or Ballantyne syndrome is a rare disorder affecting pregnant individuals. It describes the ... "Ballantyne's syndrome". Vidaeff AC, Pschirrer ER, Mastrobattista JM, Gilstrap LC, Ramin SM (2002). "Mirror syndrome. A case ... and haptoglobin are usually unaffected and may be used to distinguish mirror syndrome from HELLP syndrome. In most cases, ... "Selective fetocide reversed mirror syndrome in a dichorionic triplet pregnancy with severe twin-twin transfusion syndrome: a ...
Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium ... "Lowe syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 December 2016. Loi M (2006). "Lowe Syndrome". ... Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital ... "Orphanet: Oculocerebrorenal syndrome of Lowe". www.orpha.net. Retrieved 21 December 2016. "Fanconi syndrome: MedlinePlus ...
Malley, Corao (11 November 2013). "Gardland - Syndrome Syndrome". The 405. Retrieved 28 December 2017. "Syndrome Syndrome by ... Syndrome Syndrome'". Dummy. Retrieved 28 December 2017. Fallon, Patric (4 November 2013). "Gardland Syndrome Syndrome". XLR8R. ... Syndrome Syndrome". Resident Advisor. Retrieved 28 December 2017. Day, Larry (30 October 2013). "Gardland - Syndrome Syndrome ... Syndrome Syndrome is the debut studio album of Australian techno duo Gardland, consisting of Alex Murray and Mark Smith. It was ...
Rare syndromes, Syndromes of unknown causes, Syndromes affecting blood, Syndromes affecting the vascular system). ... the TEMPI syndrome, was reported. As of January 2022, a total of 29 patients worldwide with the TEMPI syndrome have been ... TEMPI syndrome is an orphan disease where the patients share five characteristics from which the acronym is derived: ... The cause of the syndrome is unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be ...
... is thought to be inherited as an autosomal recessive trait. Symptoms of Winchester or MONA syndrome begin ... It appears that Winchester syndrome is more common in women than men. Winchester syndrome is very rare. There have only been a ... Multicentric carpotarsal osteolysis syndrome RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Torg Winchester syndrome". www. ... "Winchester syndrome". Genetics Home Reference. Retrieved 2017-12-12. "Winchester Syndrome - NORD (National Organization for ...
... is the only MPS syndrome to exhibit X-linked recessive inheritance. The symptoms of Hunter syndrome are ... Hurler syndrome (MPS I) Sanfilippo syndrome (MPS III) Morquio syndrome (MPS IV) Prenatal testing Genetic counseling " ... Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The lack of this enzyme causes ... Hunter's syndrome (Charles A. Hunter) at Who Named It? Hunter, C. A. (1917). "A Rare Disease in Two Brothers". Proceedings of ...
... is a cluster of abnormalities of eye movement and pupil dysfunction, characterized by: Paralysis of upwards ... Parinaud's syndrome is a constellation of neurological signs indicating injury to the dorsal midbrain. More specifically, ... Parinaud's syndrome results from injury, either direct or compressive, to the dorsal midbrain. Specifically, compression or ... A thorough workup, including neuroimaging is essential to rule out anatomic lesions or other causes of this syndrome. Visually ...
The syndrome was referred to as "Hughes syndrome" among colleagues after the rheumatologist Graham R.V. Hughes (St. Thomas' ... In fact, antiphospholipid syndrome affects women around five times more commonly than men. The syndrome is typically diagnosed ... Antiphospholipid syndrome can be primary or secondary. Primary antiphospholipid syndrome occurs in the absence of any other ... Antiphospholipid syndrome, or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused ...
Guillain-Barré Syndrome among recipients of Menactra meningococcal conjugate vaccine-United States, June-July 2005. MMWR. 2005 ... Does Menactra Meningococcal Conjugate Vaccine cause Guillain-Barré Syndrome (GBS)?. No. Two large studiesexternal icon were ... Update: Guillain-Barré Syndrome among recipients of Menactra meningococcal conjugate vaccine-United States, June 2005-September ... Update: Guillain-Barré Syndrome among recipients of Menactra meningococcal conjugate vaccine-United States, October 2005- ...
Tourette syndrome (TS) is a neurologic disorder, mostly in children. It causes tics - involuntary, unusual movements or sounds ... Tics, Tourette Syndrome, and OCD (American Academy of Pediatrics) * Tourette Syndrome (For Parents) (Nemours Foundation) Also ... Stuttering and Tourettes Syndrome (Stuttering Foundation of America) Also in Spanish * Tourette Syndrome (TS): Other Concerns ... Facts about Tourette Syndrome (Centers for Disease Control and Prevention) * Tourette Syndrome (National Institute of ...
... and guidelines on Sjogrens syndrome symptoms and Sjogrens syndrome treatment. ... Sjögrens Syndrome : Review clinical reference information, medical news, ...
Revolving Door Syndrome. There is a vicious cycle that sometimes links workplace violence, psychiatric treatment, and the " ...
CHARGE syndrome is an autosomal dominant genetic disorder typically caused by mutations in the chromodomain helicase DNA- ... encoded search term (CHARGE Syndrome) and CHARGE Syndrome What to Read Next on Medscape ... Guidelines in CHARGE syndrome and the missing link: Cranial imaging. Am J Med Genet C Semin Med Genet. 2017 Dec. 175 (4):450-64 ... CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006 Apr. 43(4):306-14. [QxMD MEDLINE Link ...
NOTE: the following is a list of toxic syndrome descriptions available on this website. For a comprehensive list of chemical ...
Possible causes of Chronic Fatigue Syndrome. Possible Viral Causes. Psychological Aspects of Chronic Fatigue Syndrome. ... Chronic Fatigue Syndrome Centers for Disease Centrol and Prevention, National Center for Infectious Diseases, Division of Viral ... Chronic Fatigue Syndrome, or CFS, comprises a complex of symptoms characterized by chronic, debilitating fatigue and other ... There are several national and local non-profit support groups for persons who are thought to have the chronic fatigue syndrome ...
The intermediate syndrome is a delayed-onset of muscular weakness and paralysis following an episode of acute cholinesterase ... Intermediate Syndrome is a Delayed Onset of Muscle Weakness and Paralysis. The intermediate syndrome is a delayed-onset of ... Clinical findings in the intermediate syndrome.. *Significance of the intermediate syndrome in regards to morbidity and ... The intermediate syndrome is a condition of muscular weakness and paralysis that occurs 1-4 days after the resolution of acute ...
Tags Lynch Syndrome Universal Screening for Lynch Syndrome: Can Tumor Sequencing Have a Larger Public Health Impact on ... Making Universal Screening for Lynch Syndrome a Reality: The Lynch Syndrome Screening Network. Every day, about 400 people in ... Lynch syndrome (LS) is the most common hereditary syndrome associated with increased risk of colorectal cancer (CRC), ... Lynch syndrome affects 1 Read More ,. Posted on May 9, 2018. by Muin J. Khoury, Office of Public Health Genomics, Centers for ...
Information on Multisystem Inflammatory Syndrome in adults (MIS-A) and children (MIS-C), a recently reported condition ... Multisystem inflammatory syndrome (MIS) can affect children (MIS-C) and adults (MIS-A). MIS is a rare but serious condition ... CDC is conducting surveillance and investigations of multisystem inflammatory syndrome in children and adults, a rare but ... CDC has been tracking reports of multisystem inflammatory syndrome in children (MIS-C). ...
The syndrome was given its name in 1952 by Hugo Flecker, after the Aboriginal Irukandji people who live in Palm Cove, north of ... which has greatly increased public awareness of Irukandji syndrome. It is unknown how many other deaths from Irukandji syndrome ... Irukandji syndrome is a condition that results from envenomation by certain box jellyfish.[4] In rare instances the sting may ... Irukandji syndrome?". Anaesth Intensive Care. 31 (6): 642-47. doi:10.1177/0310057x0303100605. PMID 14719425.. ...
Rare syndromes, Syndromes affecting the eye, Syndromes affecting the kidneys, Syndromes affecting the gastrointestinal tract, ... proposed that the syndrome be named after Strømme, after encountering another patient who seemed to have the syndrome. In 2015 ... The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. However, the syndrome ... "OMIM Entry - # 243605 - STROMME SYNDROME; STROMS". www.omim.org. Retrieved 27 September 2018. "Strømme Syndrome , Hereditary ...
"Susac Syndrome". Cleveland Clinic. Retrieved 2016-03-01. "Calling All Cases of Susac Syndrome!". NOVEL: Patient Rare Disease ... Hoyt was the first to call the syndrome Susac syndrome and later Robert Daroff asked Dr. Susac to write an editorial in ... can mimic the MRI changes seen in patients with Susacs syndrome. However, the callosal lesions in Susacs syndrome are ... Rare syndromes, Syndromes affecting the nervous system, Diseases named for discoverer). ...
Of those patients who have been diagnosed with Heerfordt syndrome, 15% have a close relative who also has the syndrome. One ... Heerfordt syndrome can be inferred from the major symptoms of the syndrome, which include parotitis, fever, facial nerve palsy ... Syndromes affecting the eye, Facial nerve disorders, Syndromes affecting the nervous system). ... Heerfordt syndrome is present in 4.1 to 5.6% of those with sarcoidosis. The condition was first described in 1909 by Danish ...
Sanitation Syndrome is a way of describing a trend in segregationist thought in South Africa. The theory of sanitation syndrome ... sanitation syndrome. Despite this, authors continue to see "sanitation syndrome" as a useful and accurate way of thinking about ... The theory of sanitation syndrome implicated urban whites in creating segregated cities in South Africa, as many of the people ... Swanson, M. (1977). The Sanitation Syndrome: Bubonic Plague and Urban Native Policy in the Cape Colony, 1900-1909. The Journal ...
Syndrome 10-138d.Budd-Chiari Syndrome at Merck Manual of Diagnosis and Therapy Home Edition ... Budd-Chiari syndrome at Who Named It? *^ Budd G (1845). On diseases of the liver. London: John Churchill. p. 135. Brit Lib. ... Budd-Chiari syndrome is a very rare condition, affecting one in a million adults.[1][2] The condition is caused by occlusion of ... "Budd-Chiari Syndrome: clinical patterns and therapy".. {{cite journal}}. : Cite journal requires ,journal=. (help) ...
Appendix A: Diagnostic criteria for restless legs syndrome. *Appendix B: Evaluation methods used in restless legs syndrome ... Appendix A: Diagnostic criteria for restless legs syndrome. *Appendix B: Evaluation methods used in restless legs syndrome ... Table 1. Common Dosages of Medications Used To Treat Restless Legs Syndrome [68,69,70,71,72,73,74,75,76,77,78,79,80,85,86,87,88 ... The Restless Legs Syndrome Quality of Life questionnaire is a validated 18-item questionnaire. Ten items are used to calculate ...
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial ... The group of related conditions that includes cardiofaciocutaneous syndrome, Costello syndrome, and Noonan syndrome is often ... In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by variants ... Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of ...
Clinical characteristics: Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin ...
NOTE: the following is a list of toxic syndrome descriptions available on this website. For a comprehensive list of chemical ...
Individuals with a genetic predisposition to high cholesterol can be especially vulnerable to metabolic syndrome, but ... greatly improves the profile of FH-mice affected by metabolic syndrome. ... Metabolic syndrome, a collection of related abnormalities like hypertension, obesity, insulin resistance, and excess ... Researchers Identify Potential New Treatment for Metabolic Syndrome. Apr. 11, 2022 Metabolic syndrome increases a persons risk ...
Around one in 4000 is born with this syndrome, which arises from a deletion of a short segment of chromosome 22. Among other ... Take, for instance, a common group of birth defects - forms of a disorder called DiGeorge syndrome. ... Shprintzen syndrome, 22q11 deletion syndrome, Sedlackova syndrome and conotruncal anomaly face syndrome. All are now considered ... I am also pleased that you correctly refer to it as "DiGeorge Syndrome" rather than as 22 q 11 deletion syndrome or by one of ...
DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, ... Pleuropulmonary blastoma familial tumor and dysplasia syndrome. *Pleuropulmonary blastoma family tumor susceptibility syndrome ... DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is ... DICER1 syndrome is inherited in an autosomal dominant pattern. , which means one copy of the altered gene is sufficient to ...
... related Brugada syndrome, which is inherited in an X-linked manner. Most individuals diagnosed with Brugada syndrome have an ... In most instances Brugada syndrome is inherited in an autosomal dominant manner; the exception is ,i,KCNE5,/i,- ... Reduced penetrance and variable expressivity are hallmarks of Brugada syndrome. Once the Brugada syndrome-related pathogenic ... The proportion of individuals with Brugada syndrome caused by a de novo pathogenic variant is very low (~1%). Each child of an ...
... describes a set of cognitive and physical symptoms that result from having an extra copy or part of a copy of ... Down Syndrome Down syndrome describes a set of cognitive and physical symptoms that result from having an extra copy or part of ... Down Syndrome. Adults and children with Down syndrome are different in so many ways. Yet there may be some things they have in ... Physical development in children with Down syndrome is often slower than development of children without Down syndrome. For ...
The Guru Syndrome When spirituality turns sour. Posted April 16, 2019 , Reviewed by Ekua Hagan ... In this way, the guru syndrome is a classic case of what Ken Wilber referred to as the pre/trans fallacy - the mistaking of ... This was my first encounter with the "guru syndrome." The guru tradition has been a part of Indian culture since time ... The key to understanding the guru syndrome is the psychological need of disciples. Although many disciples (at least initially ...
Metabolic syndrome is a condition that includes various health issues. It is linked to obesity, cardiovascular disease, high ... It also finds that too little natural light can alter how fat cells behave and may increase the risk of metabolic syndrome. ... Metabolic syndrome is a collection of conditions, including hypertension, high blood sugar, abnormal blood lipids, and excess ... to people at risk of developing metabolic syndrome. ... brown adipose fat might protect against metabolic syndrome. ...
Havana Syndrome Authors of the new Springer book identify mass psychogenic illness as the likely cause of Havana Syndrome, a ... Havana Syndrome 2020, 210 p.. Softcover 27,99 € , £24.99 , $18.99. ISBN 978-3-030-40745-2. eISBN 978-3-030-40746-9. ... Havana Syndrome reflects "an extraordinary tale of international intrigue, flawed science, political ineptitude, and the mating ... In their book Havana Syndrome: Mass Psychogenic Illness and the Real Story Behind the Embassy Mystery and Hysteria, the authors ...
  • Oct. 20, 2022 A study found that high aerobic fitness does not protect children from metabolic syndrome. (sciencedaily.com)
  • 11, 2022 Metabolic syndrome increases a person's risk for diabetes, heart disease, and stroke, and includes conditions such as obesity, high blood pressure and high blood sugar. (sciencedaily.com)
  • Irritable bowel syndrome (IBS) is influenced by many factorsneurological, immunological, psychological, and likely others. (va.gov)
  • People with irritable bowel syndrome, or IBS, have a gut that won't behave, even when it seems like there's nothing wrong. (aarp.org)
  • Irritable bowel syndrome (IBS) is a long-term gastrointestinal disorder that can cause persistent discomfort. (medicalnewstoday.com)
  • The syndrome usually affects women around the age of 18 years, with female to male ratio of cases of 2:1. (wikipedia.org)
  • It affects 1 in 1,000-2,500 live births with no sex predominance, and is the most common syndromal cause of congenital heart disease, except for Down's syndrome (Zaras, et al. (bartleby.com)
  • Reye (or Reye's) syndrome most often affects kids 4 to 14 years old. (kidshealth.org)
  • Apert syndrome is a condition where the bones of the skull fuse together too early, which affects the shape of the head and face. (medicalnewstoday.com)
  • Leigh Syndrome affects one in every 40,000 newborns and is produced by deficits in the mitochondria, which are in charge of providing the energy needed for cells to function correctly. (news-medical.net)
  • This explains why metabolic syndrome affects an estimated one in four adults. (nidirect.gov.uk)
  • Alagille syndrome is a genetic disorder that usually affects the development and function of the liver. (childrens.com)
  • Angelman syndrome affects approximately 1 in every 20,000 children, and it is estimated that more than 15,000 people in the United States have the condition. (medicinenet.com)
  • Down syndrome, which affects roughly 1 in 700 live births, is the most common genetic cause of mental retardation and congenital heart disease. (eurekalert.org)
  • Respiratory distress syndrome (RDS) is a breathing problem that sometimes affects babies born six weeks or more before their due dates. (hopkinsmedicine.org)
  • On April 25, 2023, Barbie® introduced its first doll with Down syndrome, a step to further increasing disability representation in the toy aisle. (ndss.org)
  • Tourette syndrome is a disorder of the nervous system. (medlineplus.gov)
  • William F. Hoyt was the first to call the syndrome Susac syndrome and later Robert Daroff asked Dr. Susac to write an editorial in Neurology about the disorder and to use the eponym of Susac syndrome in the title, forever linking this disease with him. (wikipedia.org)
  • Take, for instance, a common group of birth defects - forms of a disorder called DiGeorge syndrome. (scienceblogs.com)
  • For example, parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, are more likely to have a child with Down syndrome. (specialolympics.org)
  • Abstract Noonan syndrome is an inherited disorder of cell growth affecting both males and females and characterized by distinctive facial features, short stature, heart defects, bleeding problems, chest wall abnormalities, and other signs and symptoms. (bartleby.com)
  • Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016). (bartleby.com)
  • Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children. (bartleby.com)
  • What they have is a genetic disorder called Noonan Syndrome, and they do not choose to have this. (bartleby.com)
  • Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. (bartleby.com)
  • Introduction Noonan syndrome, named eponymously for the pediatric cardiologist who first described it, is an autosomal dominant disorder (Gelb and Tartaglia, 2006). (bartleby.com)
  • People with Tourette Syndrome usually have an associated disorder as well, Wylie said, such as attention deficit disorder or obsessive-compulsive disorder. (cnn.com)
  • Wyburn-Mason syndrome is a congenital, nonhereditary, sporadic disorder without sexual or racial predilection. (medscape.com)
  • Wyburn-Mason syndrome is a congenital disorder. (medscape.com)
  • Because it can be a life-threatening disorder, Reye syndrome is a medical emergency . (kidshealth.org)
  • Apert syndrome is a genetic disorder. (medicalnewstoday.com)
  • Most cases of Apert syndrome appear with no previous family history of the disorder. (medicalnewstoday.com)
  • 2019 However, her urine test showed high protein levels, which suggested nephrotic syndrome , a kidney disorder. (merriam-webster.com)
  • 2019 At 7 months, Anthony was diagnosed with the kidney disorder nephrotic syndrome . (merriam-webster.com)
  • Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia have found that developmental delays associated with Leigh syndrome, the most common pediatric mitochondrial disorder, may occur earlier than previously recognized - even before metabolic stroke and regression - which could provide clinicians with an opportunity for earlier diagnosis and therapeutic interventions. (news-medical.net)
  • Guillain-Barré syndrome (GBS) is a rare disorder where the body's immune system damages nerve. (cdc.gov)
  • According to a recent study, approximately half of people with Angelman syndrome will have autism spectrum disorder . (medicinenet.com)
  • Apert syndrome is a genetic disorder in which certain skull bones fuse together prematurely, which is known as craniosynostosis . (childrens.com)
  • Apert syndrome can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is all that is needed to cause the disorder. (childrens.com)
  • However, new mutations in the gene usually cause most cases of Apert syndrome, and happen in babies with no family history of the disorder. (childrens.com)
  • The 11 patients were diagnosed with antiphospholipid syndrome: 9 patients were treated successfully with laser photocoagulation and anticoag- ulant and anti-aggregant therapy. (who.int)
  • This association has controls prior to their participation in our been termed the antiphospholipid syndrome study. (who.int)
  • [13] [2] Other acquired hypercoagulable disorders that may result in Budd-Chiari syndrome include antiphospholipid syndrome and paroxysmal nocturnal hemoglobinuria , which are responsible for 10-12% and 7-12% of Budd-Chiari syndrome cases, respectively. (wikipedia.org)
  • The pathogenesis of the antiphospholipid syndrome. (medscape.com)
  • Antiphospholipid syndrome: Complement activation, complement gene mutations, and therapeutic implications. (medscape.com)
  • Nalli C, Andreoli L, Casu C, Tincani A. Management of recurrent thrombosis in antiphospholipid syndrome. (medscape.com)
  • Diagnosis and management of the antiphospholipid syndrome. (medscape.com)
  • Mendoza-Pinto C, García-Carrasco M, Cervera R. Role of Infectious Diseases in the Antiphospholipid Syndrome (Including Its Catastrophic Variant). (medscape.com)
  • Cruz-Tapias P, Blank M, Anaya JM, Shoenfeld Y. Infections and vaccines in the etiology of antiphospholipid syndrome. (medscape.com)
  • Familial antiphospholipid syndrome and HLA-DRB gene associations. (medscape.com)
  • Gómez-Puerta JA, Cervera R. Diagnosis and classification of the antiphospholipid syndrome. (medscape.com)
  • Dabit JY, Valenzuela-Almada MO, Vallejo-Ramos S, Duarte-García A. Epidemiology of Antiphospholipid Syndrome in the General Population. (medscape.com)
  • Lockshin MD. Update on antiphospholipid syndrome. (medscape.com)
  • Cervera R. Antiphospholipid syndrome. (medscape.com)
  • Pediatric antiphospholipid syndrome: clinical and immunologic features of 121 patients in an international registry. (medscape.com)
  • Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). (medscape.com)
  • Man YL, Sanna G. Neuropsychiatric Manifestations of Antiphospholipid Syndrome-A Narrative Review. (medscape.com)
  • Galli M, Luciani D, Bertolini G. Lupus anticoagulants are stronger risk factors for thrombosis than anticardiolipin antibodies in the antiphospholipid syndrome: a systematic review of the literature. (medscape.com)
  • [2] Inherited disorders of hypercoagulability may lead to thrombosis of the hepatic vein and Budd-Chiari syndrome. (wikipedia.org)
  • [2] [14] Budd-Chiari syndrome may be the presenting sign of these hypercoagulable disorders. (wikipedia.org)
  • In addition, people with Down syndrome are at increased risk for a range of other health conditions, including Autism Spectrum Disorders, problems with hormones and glands, hearing loss, vision problems, and heart abnormalities. (specialolympics.org)
  • The Vinaya Rett Syndrome and Related Spectrum Disorders Clinic provides comprehensive, multidisciplinary care for children and adults. (cincinnatichildrens.org)
  • We provide evaluation and treatment for all variations of Rett syndrome and related MECP2 spectrum disorders. (cincinnatichildrens.org)
  • It is important to note that portopulmonary hypertension is often confused with hepatopulmonary syndrome, but these are entirely different diseases (see "Related Disorders" below). (rarediseases.org)
  • Samantha West, Milwaukee Journal Sentinel , 10 June 2018 According to Mayo Clinic, nephrotic syndrome is usually caused by damage to small blood vessels in the kidneys that filter waste and excess water from your blood. (merriam-webster.com)
  • Universal Screening for Lynch Syndrome: Can Tumor Sequencing Have a Larger Public Health Impact on Treatment and Prevention of Colorectal Cancer? (cdc.gov)
  • Secondary Budd-Chiari syndrome, which is very rare compared to the primary variant, is due to compression of the hepatic vein by an outside structure (such as a tumor or polycystic kidney disease ). (wikipedia.org)
  • If 2 out the 3 screening tests show high cortisol levels, the doctor will do more tests to figure out the cause of endogenous cortisol production, such as a pituitary tumor making an excess of ACTH (also called Cushing disease), an adrenal tumor, or a tumor at a different site making too much of ACTH or a hormone that stimulates ACTH production (ectopic Cushing syndrome). (massgeneral.org)
  • Up to 85% of reported mutations in association with PTEN-related hamartoma tumor syndromes are detectable by this test. (cincinnatichildrens.org)
  • Blumenthal, G.M. and P.A. Dennis (2008) "PTEN Hamartoma Tumor Syndromes. (cincinnatichildrens.org)
  • 2019 Other conditions, such as cystic kidneys, genetic factors, nephrotic syndrome and autoimmune diseases also can cause kidney failure. (merriam-webster.com)
  • CDC is conducting surveillance and investigations of multisystem inflammatory syndrome in children and adults, a rare but serious condition associated with COVID-19. (cdc.gov)
  • Multisystem inflammatory syndrome (MIS) can affect children (MIS-C) and adults (MIS-A). MIS is a rare but serious condition associated with COVID-19 in which different body parts become inflamed, including the heart, lungs, kidneys, brain, skin, eyes, or gastrointestinal organs. (cdc.gov)
  • Budd-Chiari syndrome is a very rare condition, affecting one in a million adults. (wikipedia.org)
  • Adults and children with Down syndrome are different in so many ways. (specialolympics.org)
  • Adults with Down syndrome are living longer lives with increased well-being. (cdc.gov)
  • As with all adults, advancing age increases the chances a person with Down syndrome will develop Alzheimer's disease. (cdc.gov)
  • Amyloid accumulation is seen in almost all adults over 40 with Down syndrome. (cdc.gov)
  • Additionally, adults with Down syndrome experience "accelerated aging," meaning that in their 40s and 50s, they experience certain conditions that are more commonly seen in much older adults in the general population. (cdc.gov)
  • Most adults with Down syndrome do not self-report concerns about memory. (cdc.gov)
  • Dec. 8, 2020 Researchers have identified a novel mechanism by which periodontal disease may cause metabolic syndrome. (sciencedaily.com)
  • Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. (medscape.com)
  • Atypical Phenotypes Associated with Pathogenic CHD7 Varaints and a Proposal for Broadening CHARGE Syndrome Clinical Diagnostic Criteria. (medscape.com)
  • Clinical findings in the intermediate syndrome. (cdc.gov)
  • Karalliedde (Karalliedde and Senanayake 1989) first described the syndrome in 1987 and observed that, although clinical findings occurred in a delayed fashion, they were described as acute in onset. (cdc.gov)
  • The diagnosis of Brugada syndrome is established clinically in an individual with characteristic EKG findings and suggestive clinical history and/or family history. (nih.gov)
  • Espana A, Sanz ML, Sola J, Gil P. Wells' syndrome (eosinophilic cellulitis): correlation between clinical activity, eosinophil levels, eosinophil cation protein and interleukin-5. (medscape.com)
  • More rarely, the clinical picture of ADF is subtle, presenting as an obstructive syndrome, and in these cases the principal goal is to effectively relieve the mechanical bowel obstruction. (sciencedaily.com)
  • Proteus syndrome (PS) is characterized by hemihypertrophy and subcutaneous tumors with Proteus-like syndrome referring to individuals with clinical features of PS that do not meet diagnostic criteria. (cincinnatichildrens.org)
  • 2015) "Clinical Presentation of PTEN Mutations in Childhood in the Absence of Family History of Cowden Syndrome. (cincinnatichildrens.org)
  • Some studies have reported a relatively high prevalence of Cushing Syndrome among women with obesity and polycystic ovarian syndrome. (massgeneral.org)
  • These patients are also at risk for developing Chiari malformation, however their risk is lower than that of patients with Crouzon or Pfeiffer syndromes. (childrens.com)
  • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (medscape.com)
  • Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. (medscape.com)
  • The syndrome is caused by mutations in both copies of the CENPF gene, which codes for centromere protein F. This protein is involved in cell division, in which it forms part of a disc-shaped protein complex known as a kinetochore. (wikipedia.org)
  • Mutations in the gene result in slower cell division and some embryonic developmental processes being disrupted or not completed, and the syndrome can be classified as a ciliopathy. (wikipedia.org)
  • In 2015, mutations in CENPF were first identified as pathogenic, and a 2016 genetic analysis of Strømme's original two siblings found that both had mutations in both of their copies of CENPF, establishing it as the cause of the syndrome. (wikipedia.org)
  • At least two individuals with the syndrome in literature have avoided intestinal atresia, one of which had a sibling with the same mutations who did not. (wikipedia.org)
  • Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
  • DICER1 syndrome is caused by mutations in the DICER1 gene. (medlineplus.gov)
  • Most of the gene mutations involved in DICER1 syndrome lead to an abnormally short Dicer protein that is unable to aid in the production of miRNA. (medlineplus.gov)
  • Mutations in the FGFR2 gene cause Apert syndrome. (childrens.com)
  • Promoter analysis of PTEN will identify mutations in about 10% of patients with Cowden syndrome. (cincinnatichildrens.org)
  • Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. (wikipedia.org)
  • The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. (wikipedia.org)
  • Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Metabolic syndrome, a collection of related abnormalities like hypertension, obesity, insulin resistance, and excess cholesterol, poses a major risk for developing heart disease and diabetes. (sciencedaily.com)
  • Brugada syndrome is characterized by cardiac conduction abnormalities (ST segment abnormalities in leads V 1 -V 3 on EKG and a high risk for ventricular arrhythmias) that can result in sudden death. (nih.gov)
  • There are several different abnormalities caused by Noonan Syndrome that can affect people. (bartleby.com)
  • Apert syndrome can also cause abnormalities in the fingers and toes. (medicalnewstoday.com)
  • To formally diagnose a person with Apert syndrome, a doctor will look for the characteristic bone abnormalities affecting the head, face, hands, and feet. (medicalnewstoday.com)
  • Individuals with a genetic predisposition to high cholesterol can be especially vulnerable to metabolic syndrome, but researchers have now found that blocking the enzyme stearoyl-CoA desaturase-1, which helps synthesize unsaturated fatty acids, greatly improves the profile of FH-mice affected by metabolic syndrome. (sciencedaily.com)
  • Background: Although metabolic syndrome (MetS) was described in the late 80s, the molecular mechanisms underlying clustering of risk factors in certain individuals are not fully understood. (lu.se)
  • Metabolic syndrome is the medical term for a combination of diabetes, high blood pressure and obesity. (nidirect.gov.uk)
  • Metabolic syndrome is associated with being overweight or obese, and a lack of physical activity. (nidirect.gov.uk)
  • Your chances of developing metabolic syndrome are greater if you have a family history of type 2 diabetes, or you've had diabetes during pregnancy ( gestational diabetes ). (nidirect.gov.uk)
  • You can prevent or reverse metabolic syndrome by making a number of lifestyle changes. (nidirect.gov.uk)
  • Noonan Syndrome (autosomal dominant condition) is a fairly common disease, affecting 1 in every 1,000-2,500 people. (bartleby.com)
  • Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (most prominent during childhood and usually decreasing after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. (nih.gov)
  • [ 34 ] Cutaneous dirofilariasis may also clinically resemble Wells syndrome. (medscape.com)
  • In contrast to other phakomatoses, Wyburn-Mason syndrome does not commonly cause cutaneous manifestations. (medscape.com)
  • In 2017, the FDA approved the first drug specifically to treat Churg-Strauss syndrome. (webmd.com)
  • 2017 American Kidney Fund states that, in children, nephrotic syndrome effects around 2 in every 10,000 and is most common among 2- to 6-year-olds. (merriam-webster.com)
  • If you have Tourette syndrome, you make unusual movements or sounds, called tics. (medlineplus.gov)
  • The cause of Tourette syndrome is unknown. (medlineplus.gov)
  • The site is home to a new project from the Tourette Syndrome Foundation of Canada. (cnn.com)
  • Build a biscuit, put a sheepdog on top" is actually a verbal tic, and it's been posted to @sammsy's feed as part of project designed to raise awareness about Tourette Syndrome. (cnn.com)
  • During that time, a program posted tweets containing real-life verbal tics, sent to the foundation from people who have Tourette Syndrome . (cnn.com)
  • We were trying to think of a way to get people to experience Tourette Syndrome," art director Rachel Kennedy said. (cnn.com)
  • People with Tourette Syndrome suffer from involuntary tics, which can be either verbal or physical. (cnn.com)
  • Many know it only as the "swearing disease," but only about 10% of people with Tourette Syndrome swear, says Cathy Wylie, president of the Tourette Syndrome Foundation of Canada. (cnn.com)
  • Wylie's son was diagnosed with Tourette Syndrome 20 years ago. (cnn.com)
  • It's unknown exactly how many children living in the United States or Canada have Tourette Syndrome. (cnn.com)
  • piriformis syndrome , irritation of the sciatic nerve as it passes over, under, or through the piriformis muscle of the buttock. (britannica.com)
  • Piriformis syndrome is due to entrapment and irritation of the sciatic nerve. (britannica.com)
  • In athletes, piriformis syndrome can also be seen following activities that cause repetitive hip rotation and extension , such as running and climbing. (britannica.com)
  • Piriformis syndrome is compression of the sciatic nerve by the piriformis muscle in the posterior pelvis, causing pain in the buttocks and occasionally sciatica. (msdmanuals.com)
  • Piriformis syndrome is uncommon. (msdmanuals.com)
  • In piriformis syndrome, the sciatic nerve is compressed by the piriformis muscle in the posterior pelvis. (msdmanuals.com)
  • In patients that have already been diagnosed with sarcoidosis, Heerfordt syndrome can be inferred from the major symptoms of the syndrome, which include parotitis, fever, facial nerve palsy and anterior uveitis. (wikipedia.org)
  • Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
  • The original classifications included velo-cardio-facial syndrome, Shprintzen syndrome, 22q11 deletion syndrome, Sedlackova syndrome and conotruncal anomaly face syndrome. (scienceblogs.com)
  • Wyburn-Mason syndrome (WMS), also known as Bonnet-Dechaume-Blanc syndrome or retinoencephalofacial angiomatosis, is a rare nonhereditary congenital phakomatosis characterized by arteriovenous malformations (AVMs) of the retina, brain, and, in some cases, facial skin. (medscape.com)
  • Schmidt D. [Congenital retinocephalic facial vascular malformation syndrome. (medscape.com)
  • People born with Apert syndrome may experience problems with their vision and teeth because of the abnormal shape of the facial and skull bones. (medicalnewstoday.com)
  • A small region of this replicated segment is found in triplicate in all people with segmental trisomy and Down syndrome's facial features, and so it had been dubbed the "Down syndrome critical region" or DSCR. (eurekalert.org)
  • To see whether DSCR is as critical as many suggested, then-graduate student Lisa Olson, Ph.D., created "chromosomally" engineered mice, and found that mice with three copies of just their DSCR equivalent actually had facial and skeletal changes opposite of those seen in Down syndrome. (eurekalert.org)
  • Their faces were longer and narrower than normal, but Down syndrome is characterized by shorter than normal facial bones. (eurekalert.org)
  • Some genes in the region contribute to the effects on facial bones, but, in triplicate alone, this region produces different traits than those seen in Down syndrome," says Reeves. (eurekalert.org)
  • Recent studies have shown that intermediate syndrome is accompanied by the excretion of cholinesterase inhibitor metabolites in the urine and by severe depression in cholinesterase levels. (cdc.gov)
  • However, the syndrome has a wide range of severity that generally runs in the family it presents in, ranging from only mild learning disability and microcephaly with no other features in some families to death in utero with severe kidney, heart, eye, skeletal, brain and intestinal malformations in others. (wikipedia.org)
  • The acute syndrome presents with rapidly progressive severe upper abdominal pain , yellow discoloration of the skin and whites of the eyes , liver enlargement , enlargement of the spleen , fluid accumulation within the peritoneal cavity , elevated liver enzymes , and eventually encephalopathy . (wikipedia.org)
  • Down syndrome is only rarely associated with severe cognitive impairment. (specialolympics.org)
  • People with Down syndrome are extremely likely to experience severe issues related to their heart, which places them at increased risk for early onset dementia. (cdc.gov)
  • Leigh syndrome is the most severe mitochondrial disease in children. (news-medical.net)
  • The diagnosis of myalgic encephalomyelitis/chronic fatigue syndrome should be questioned if patients do not have these symptoms at least half of the time with moderate, substantial, or severe intensity. (medscape.com)
  • Variants in any of these genes can result in the characteristic features of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • A molecular diagnosis can be established in an individual with characteristic features and identification of a heterozygous pathogenic variant in SCN5A or one of the additional 42 genes associated with Brugada syndrome. (nih.gov)
  • Cauda equina syndrome is diagnosed based on characteristic symptoms and confirmed by neurologic and radiology testing. (medicinenet.com)
  • Cauda equina syndrome is clinically diagnosed based on the characteristic symptoms described above. (medicinenet.com)
  • Olson found that mice with just two copies of DSCR but three copies of the rest of the chromosome did have the shorter bones characteristic of Down syndrome. (eurekalert.org)
  • Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. (medscape.com)
  • Around one in 4000 is born with this syndrome, which arises from a deletion of a short segment of chromosome 22. (scienceblogs.com)
  • Down syndrome is the term for a set of cognitive and physical symptoms that can result from having an extra copy or part of a copy of chromosome 21. (specialolympics.org)
  • Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21. (specialolympics.org)
  • Down Syndrome occurs when an individual has an extra partial, or whole, copy of chromosome 21. (cdc.gov)
  • Chromosome 21 plays a key role in the relationship between Down syndrome and Alzheimer's disease as it carries a gene that produces one of the key proteins, amyloid protein, involved with changes in the brain associated with Alzheimer's. (cdc.gov)
  • Angelman syndrome is caused by the mutation or complete deletion of a specific gene on a chromosome. (medicinenet.com)
  • Down syndrome occurs when three -- instead of two -- copies of chromosome 21 are present in a fertilized egg, although rare cases occur when a section of the chromosome -- rather than the whole chromosome -- is found in triplicate in a situation called segmental trisomy. (eurekalert.org)
  • Mice with only one copy of DSCR were smaller than normal, similar to a well-studied mouse version of Down syndrome that has three copies of many more of the genes found on human chromosome 21. (eurekalert.org)
  • Breeding the single-DSCR with the well-studied Down syndrome mouse produced a mouse with only two copies of DSCR but three copies of all other genes on mouse chromosome 16. (eurekalert.org)
  • Some authors have concluded that muscarinic signs do not occur in patients with the intermediate syndrome (although - as noted above - sweating, anxiety, and restlessness, attributed to hypoxia, were noted). (cdc.gov)
  • Lynch syndrome (LS) is the most common hereditary syndrome associated with increased risk of colorectal cancer (CRC), accounting for about 3% of CRC patients. (cdc.gov)
  • 2003), MRI images from 27 patients fulfilling the diagnostic criteria of Susac's syndrome were reviewed. (wikipedia.org)
  • Multiple sclerosis (MS) and acute disseminated encephalomyelitis (ADEM) can mimic the MRI changes seen in patients with Susac's syndrome. (wikipedia.org)
  • Of those patients who have been diagnosed with Heerfordt syndrome, 15% have a close relative who also has the syndrome. (wikipedia.org)
  • Le syndrome des antiphospholipides a été diagnostiqué chez 11 patients : neuf patients ont été traités avec succès par photocoagulation au laser associant un traitement anticoagulant et antiagrégant. (who.int)
  • The majority of patients have a slower-onset form of Budd-Chiari syndrome. (wikipedia.org)
  • Koga C, Sugita K, Kabashima K, Matsuoka H, Nakamura M, Tokura Y. High responses of peripheral lymphocytes to mosquito salivary gland extracts in patients with Wells syndrome. (medscape.com)
  • The effect of triple therapy on the mortality of catastrophic anti-phospholipid syndrome patients. (medscape.com)
  • The outlook for patients affected by cauda equina syndrome is determined by the extent of damage to involved nerve tissue. (medicinenet.com)
  • Patients with Apert syndrome have varying degrees of webbed or fused fingers and toes ( Syndactyly ). (childrens.com)
  • Patients with Apert syndrome are at a high risk for hydrocephalus . (childrens.com)
  • Approximately 80% of patients with CS, 60% patients with BRRS, 20% of patients with PS/PSL syndrome will have a PTEN mutation identifiable by sequencing. (cincinnatichildrens.org)
  • This is called hepatopulmonary syndrome (HPS) and it occurs in approximately 5-32% of patients with scarring of the liver (cirrhosis)1. (rarediseases.org)
  • The risk that a child will inherit the familial pathogenic variant and develop Brugada syndrome may be less than 50% because of reduced penetrance and the possibility of other genetic and environmental factors. (nih.gov)
  • Wyburn-Mason syndrome has no reported racial predilection, and there is no familial form of the syndrome. (medscape.com)
  • Kristen Jordan Shamus, Detroit Free Press , 9 July 2019 At 3 years old, her son Jaxson was diagnosed with nephrotic syndrome . (merriam-webster.com)
  • These cases are known as idiopathic Budd-Chiari syndrome. (wikipedia.org)
  • Primary Budd-Chiari syndrome occurs due to thrombosis of the hepatic vein. (wikipedia.org)
  • Budd-Chiari syndrome is also seen in tuberculosis , congenital venous webs and occasionally in inferior vena caval stenosis . (wikipedia.org)
  • An important non-genetic risk factor is the use of estrogen-containing forms of hormonal contraception , which is implicated in 22% of cases of Budd-Chiari syndrome. (wikipedia.org)
  • Any obstruction of the venous vasculature of the liver is referred to as Budd-Chiari syndrome, from the venules to the right atrium . (wikipedia.org)
  • Wells syndrome (eosinophilic cellulitis) following vaccination: Two pediatric cases with positive patch test to aluminium salts. (medscape.com)
  • The Cure Mito Foundation, a parent-led organization dedicated to advancing research and treatments for Leigh syndrome, has launched the first-of-its-kind online resource about Leigh syndrome, the most common type of pediatric mitochondrial disease. (news-medical.net)
  • What are the signs and symptoms of Pediatric Alagille Syndrome? (childrens.com)
  • How is Pediatric Alagille Syndrome diagnosed? (childrens.com)
  • What are the signs and symptoms of Pediatric Apert Syndrome? (childrens.com)
  • Microglia, a type of central nervous system cell, is primarily responsible for neuronal death in Leigh Syndrome and the neurological symptoms related to this mitochondrial disease. (news-medical.net)
  • Treatment and prognosis for intermediate syndrome. (cdc.gov)
  • Magnesium sulfate ( Epsom Salts ) has been proposed as a treatment for Irukandji syndrome after being apparently successfully used in one case. (wikipedia.org)
  • In recent decades, thanks to appropriate support and treatment, life expectancy for people with Down syndrome has increased dramatically: from 25 years in 1983 to more than 60 years today. (specialolympics.org)
  • Identification of attention problems and other psychiatric comorbidities will be an important element in developing appropriate educational and treatment goals to benefit individuals with Noonan syndrome" (Pierpont et al. (bartleby.com)
  • The outlook for children with Reye syndrome has improved thanks to earlier diagnosis and better treatment. (kidshealth.org)
  • But it's best to be sure because early diagnosis is the key to successful treatment of Reye syndrome. (kidshealth.org)
  • Treatment of Apert syndrome will vary between individuals. (medicalnewstoday.com)
  • What is the treatment for cauda equina syndrome? (medicinenet.com)
  • Women who have a really bad infection and delay treatment-or only partially complete therapy-risk persistent symptoms, reinfection, or much longer, chronic syndromes," says Roger Dmochowski, MD, professor of urology at Vanderbilt University and member of the American Urological Association. (oprah.com)
  • If your irritable male syndrome is caused by a decrease in testosterone levels, one of the main treatment options is testosterone replacement therapy. (healthline.com)
  • Mental health treatment is important if your relationship is affected by irritable male syndrome. (healthline.com)
  • With this in-depth knowledge we will be able to analyze more effectively if the child has characteristics of ADHD or of the "Mouth Breathing Syndrome" and from there to properly guide the families and school staff in the search of a specific treatment the needs of the child. (bvsalud.org)
  • It is not yet known why this syndrome occurs, but Down syndrome has always been part of the human condition. (cdc.gov)
  • Wyburn-Mason syndrome is rare, and the precise incidence and prevalence are poorly defined. (medscape.com)
  • Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. (medlineplus.gov)
  • The worldwide incidence of Wyburn-Mason syndrome is also rare. (medscape.com)
  • [ 47 ] Also consider terbinafine-induced DRESS (drug reaction with eosinophilia and systemic symptoms) syndrome. (medscape.com)
  • This should provide the population using well defined diagnostic criteria, and over time may indicate if the syndrome is stable or increasing in frequency. (cdc.gov)
  • The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome . (medlineplus.gov)
  • In these cases, affected individuals may actually have Costello syndrome or Noonan syndrome, which are also caused by variants in genes involved in RAS/MAPK signaling. (medlineplus.gov)
  • present in Noonan Syndrome. (bartleby.com)
  • Noonan Syndrome is a dominant gene pattern. (bartleby.com)
  • with the Noonan Syndrome! (bartleby.com)
  • This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! (bartleby.com)
  • first diagnosis of Noonan syndrome was in 1883 by means of Kobylinski. (bartleby.com)
  • webbing is one of the main symptoms of Noonan syndrome. (bartleby.com)
  • According to the National Down Syndrome Society, about 30% of people with Down Syndrome who are in their 50s have Alzheimer's disease. (cdc.gov)
  • Those affected with the syndrome usually have microcephaly. (wikipedia.org)
  • NDSS had the opportunity to advise Mattel to ensure the doll reflected characteristics and symbols of Down syndrome. (ndss.org)
  • A liver biopsy means we study a small sample of liver tissue, which can have certain characteristics that indicate Alagille's syndrome. (childrens.com)
  • For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk. (specialolympics.org)
  • Compression of the spinal cord at this level can lead to a number of typical symptoms of the syndrome (low back pain , sciatica , saddle sensory changes, bladder and bowel incontinence , and lower extremity motor and sensory loss). (medicinenet.com)
  • This article will provide an overview of Apert syndrome, including the symptoms, treatments, and outlook for this condition. (medicalnewstoday.com)
  • What treatments are available for irritable male syndrome? (healthline.com)
  • Accordingly, I urge all DiGeorge researchers, "DiGeorge families", and the entire medical community to respect and honor the remarkable man who first described the syndrome and who discovered the role of the thymus gland in human function by continuing to call it what it is, DiGeorge Syndrome. (scienceblogs.com)
  • Researchers also know some, but not all, of the risk factors for Down syndrome. (specialolympics.org)
  • After five years of work, Johns Hopkins researchers report that a particular genetic region long assumed to be a critical factor in Down syndrome isn't nearly as important as once thought. (eurekalert.org)
  • Now researchers can take a deep breath, accept that the syndrome is complex, and move forward. (eurekalert.org)
  • DSCR doesn't seem to be required for Down syndrome-like features to result, either, the researchers report. (eurekalert.org)
  • That "hybrid" mouse was similar to its Down syndrome parent but more mildly affected, the researchers report. (eurekalert.org)
  • In some persons, the symptoms of CFS develop following an otherwise self-limited illness, such as influenza, infectious mononucleosis, acute cytomegalovirus (cy-to-meg-lo-virus) infections, or a nonspecific acute viral syndrome. (cdc.gov)
  • The intermediate syndrome is a delayed-onset of muscular weakness and paralysis following an episode of acute cholinesterase inhibitor poisoning. (cdc.gov)
  • [2] The syndrome can be fulminant , acute, chronic, or asymptomatic. (wikipedia.org)
  • Churg-Strauss syndrome is also called eosinophilic granulomatosis with polyangiitis, or EGPA. (webmd.com)
  • Ghislain PD, Van Eeckhout P. Eosinophilic cellulitis of papulonodular presentation (Wells' syndrome). (medscape.com)
  • Holme SA, McHenry P. Nodular presentation of eosinophilic cellulitis (Wells' syndrome). (medscape.com)
  • Eosinophilic cellulitis (Wells' syndrome) associated with colon carcinoma. (medscape.com)
  • Heelan K, Ryan JF, Shear NH, Egan CA. Wells syndrome (eosinophilic cellulitis): Proposed diagnostic criteria and a literature review of the drug-induced variant. (medscape.com)
  • Chronic Fatigue Syndrome, or CFS, comprises a complex of symptoms characterized by chronic, debilitating fatigue and other nonspecific symptoms. (cdc.gov)
  • Chronic fatigue syndrome (CFS) is a complex and serious illness that is often misunderstood. (medscape.com)
  • Experts have noted that the terminology "chronic fatigue syndrome" can trivialize this illness and stigmatize persons who experience its symptoms. (medscape.com)
  • [ 1 ] The name was coined by a group of clinicians convened by CDC in the late 1980s to develop a research case definition for the illness, which, at the time, was called chronic Epstein-Barr virus syndrome. (medscape.com)
  • Beyond myalgic encephalomyelitis/chronic fatigue syndrome: redefining an illness. (medscape.com)
  • Can an Aspirin a Day Prevent Colorectal Cancer in People with Lynch Syndrome? (cdc.gov)
  • Identifying people with Lynch syndrome could have substantial health benefits for them, their families, and communities. (cdc.gov)
  • The theory of sanitation syndrome implicated urban whites in creating segregated cities in South Africa, as many of the people causing and complicit with the forced relocations were members of the urban middle and upper classes. (wikipedia.org)
  • The syndrome was given its name in 1952 by Hugo Flecker , after the Aboriginal Irukandji people who live in Palm Cove , north of Cairns , Queensland , Australia , where stings are common. (wikipedia.org)
  • however, two people in Australia are believed to have died from Irukandji stings, [10] which has greatly increased public awareness of Irukandji syndrome. (wikipedia.org)
  • Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified variant in the BRAF , MAP2K1 , MAP2K2 , or KRAS gene. (medlineplus.gov)
  • People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). (medlineplus.gov)
  • in people with DICER1 syndrome, the cysts develop early in childhood. (medlineplus.gov)
  • People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). (medlineplus.gov)
  • The degree of intellectual disability in people with Down syndrome varies but is usually mild to moderate. (specialolympics.org)
  • Cognitive impairment-which means problems with thinking and learning-is common in people with Down syndrome and usually ranges from mild to moderate. (specialolympics.org)
  • They describe different types of psychogenic illnesses from the 18th-century belief that listening to certain musical instruments made people ill, to telephone sickness and Wind Turbine Syndrome as they analyse mass hysteria through the ages. (springer.com)
  • About 50% of people with Down syndrome in their 60s have Alzheimer's disease. (cdc.gov)
  • In observance of Sept. 21 as World Alzheimer's Day and recognition that people with Down syndrome have an increased risk of developing Alzheimer's, CDC and its partners are focused on sharing information and resources to help support people with Down syndrome, their families, caregivers, health care providers, and public health professionals. (cdc.gov)
  • Estimates for the number of people with Down syndrome in the United States have grown from nearly 50,000 in 1950 to 206,366 in 2010. (cdc.gov)
  • 3 Some estimates put the worldwide population of people with Down syndrome at more than 6 million. (cdc.gov)
  • Scientists think the increased risk of Alzheimer's disease among people with Down syndrome results from the extra genes present as well as other health issues such as congenital heart defects. (cdc.gov)
  • About 50% of people with Down syndrome have a congenital heart defect - a condition rarely seen in the general population. (cdc.gov)
  • Many people with Down syndrome are diagnosed with Alzheimer's disease in their 50s, but it is not uncommon for symptoms to occur in their late 40s. (cdc.gov)
  • The presence of Alzheimer's disease in people with Down syndrome can lead to a rapid, progressive decline in brain health. (cdc.gov)
  • Many family members and caregivers observe that people with Down syndrome appear to "slow down" in their late 40s and 50s. (cdc.gov)
  • People with the syndrome describe a tic like a sneeze - impossible to hold in without extreme discomfort. (cnn.com)
  • People with Apert syndrome may have an average level of intellect, or a mild to moderate intellectual impairment. (medicalnewstoday.com)
  • The central nervous system's messages to the muscles are disrupted in people with Angelman syndrome. (medicinenet.com)
  • With the correct intervention, people with Angelman syndrome can strengthen their muscles, improve their gross motor skills, and lead better life. (medicinenet.com)
  • People with Angelman syndrome frequently smile and laugh and have happy, excitable personalities. (medicinenet.com)
  • Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma). (medlineplus.gov)
  • Rarely do they present with a history of persistent occlusive syndrome: This is the case of a 59-year-old man who underwent an aortic-bi-femoral bypass five years ago, presenting with dyspepsia and biliary vomiting. (sciencedaily.com)
  • Cauda equina syndrome is a complication from the compression of the nerves at the end of the spinal cord within the spinal canal. (medicinenet.com)
  • Cauda equina syndrome can be caused by any condition that results in direct irritation or pinching of the nerves at the end of the spinal cord. (medicinenet.com)
  • Partial cauda equina syndrome is the terminology that applies when there is incomplete compression of the nerves of the lower spinal cord. (medicinenet.com)
  • Reeves' lab is now testing another long-standing but poorly supported tenet of Down syndrome research by using the mouse models to study the involvement of neural crest cells, precursors to structures affected in Down syndrome, including the face, heart and the nerves that serve the intestines. (eurekalert.org)
  • According to the Centers for Disease Control and Prevention, approximately 6,000 babies are born in the United States each year with Down syndrome, or approximately 1 out of every 691 live births. (specialolympics.org)
  • This medicine can put your disease into remission, which is when you no longer have any symptoms or signs of Churg-Strauss syndrome. (webmd.com)
  • The goal in treating Churg-Strauss syndrome is to put your disease into remission. (webmd.com)
  • Diagnosing Alzheimer's disease in a person with Down syndrome can be difficult because of the challenges involved in assessing thinking-skill changes in persons with intellectual disabilities. (cdc.gov)
  • Recent Examples on the Web Ameera did indeed have a kidney disease, explaining her nephrotic syndrome symptoms. (merriam-webster.com)
  • Many children with Alagille syndrome show jaundice and other signs of liver disease in the early months after being born. (childrens.com)
  • If we know or suspect your child has Alagille syndrome, we do additional tests to check on their liver, kidneys, heart and other organs that are often affected by the disease. (childrens.com)
  • The hepatopulmonary syndrome (HPS) is a rare lung complication of liver disease. (rarediseases.org)
  • DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. (medlineplus.gov)
  • PHTS is associated with predisposition for benign and malignant hamartoma tumors and includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, and Proteus-like syndrome. (cincinnatichildrens.org)
  • Individuals with Cowden syndrome (CS) have an increased risk for tumors of the thyroid, breast, and endometrium. (cincinnatichildrens.org)
  • Angelman syndrome usually manifests itself as developmental delays between the ages of 6 and 12 months. (medicinenet.com)
  • Make an appointment with a doctor if your child appears to have developmental delays or other signs or symptoms of Angelman syndrome. (medicinenet.com)
  • Children with Apert syndrome can have various degrees of learning problems and developmental delays. (childrens.com)
  • The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • What Are the Signs & Symptoms Reye Syndrome? (kidshealth.org)
  • The signs and symptoms of Reye syndrome almost always follow the start of a viral illness, such as an upper respiratory tract infection ( a cold , the flu, etc.), a diarrheal illness, or chickenpox. (kidshealth.org)
  • Approximately twelve of them have Lynch syndrome, a hereditary condition that increases the risk of colorectal cancer and other cancers. (cdc.gov)
  • Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Yih WK, Weintraub E, Kulldorff M. No risk of Guillain-Barré syndrome found after meningococcal conjugate vaccination in two large cohort studies external icon . (cdc.gov)
  • Simpson JK, Patalay R, Francis N, Roberts N. Influenza Vaccination as a Novel Trigger of Wells Syndrome in a Child. (medscape.com)