CHARGE Syndrome
Choanal Atresia
Coloboma
Auditory Brain Stem Implantation
Abnormalities, Multiple
DNA Helicases
Kallmann Syndrome
Sexual Infantilism
Heart Defects, Congenital
Septo-Optic Dysplasia
Eustachian Tube
Ear, Inner
Vestibular Diseases
Sphenoid Bone
Facial Paralysis
Ear, Middle
Vestibular Nerve
DNA-Binding Proteins
Cranial Fossa, Posterior
Mutation
Central Nervous System Diseases
Down Syndrome
Metabolic Syndrome X
Phenotype
Olfactory Bulb
Face
Hospital Charges
Nephrotic Syndrome
Sjogren's Syndrome
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis. (1/20)
(+info)Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. (2/20)
(+info)Mutations in the CHD7 gene: the experience of a commercial laboratory. (3/20)
(+info)Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. (4/20)
(+info)The DNA-binding domain of the Chd1 chromatin-remodelling enzyme contains SANT and SLIDE domains. (5/20)
(+info)The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (6/20)
(+info)Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome. (7/20)
(+info)Chd7 plays a critical role in controlling left-right symmetry during zebrafish somitogenesis. (8/20)
(+info)CHARGE syndrome is a genetic disorder that is associated with a variety of birth defects and medical issues. The name CHARGE is an acronym that stands for:
* Coloboma of the eye, which is a hole in the structure of the eye that is present at birth.
* Heart defects, which can range from mild to severe.
* Atresia of the choanae, which is the absence or closure of the nasal passages.
* Retardation of growth and/or development.
* Genital and/or urinary abnormalities.
* Ear abnormalities and deafness.
CHARGE syndrome is caused by mutations in the CHD7 gene, which is located on chromosome 8. This gene provides instructions for making a protein that is involved in the development of the eyes, ears, and other parts of the body. Mutations in the CHD7 gene can lead to the characteristic features of CHARGE syndrome.
CHARGE syndrome is typically diagnosed based on the presence of certain physical characteristics and medical issues. A genetic test can be done to confirm the diagnosis and identify the specific mutation that is causing the disorder.
Treatment for CHARGE syndrome depends on the severity of the symptoms and may include surgery, therapy, and other medical interventions. With appropriate care, many people with CHARGE syndrome are able to lead fulfilling lives.
Choanal atresia is a medical condition where the back of the nasal passage (choana) is blocked or narrowed, usually by bone, membrane, or a combination of both. This blockage can be present at birth (congenital) or acquired later in life due to various reasons such as infection, injury, or tumor.
Congenital choanal atresia is more common and occurs during fetal development when the nasal passages fail to open properly. It can affect one or both sides of the nasal passage and can be unilateral (affecting one side) or bilateral (affecting both sides). Bilateral choanal atresia can cause breathing difficulties in newborns, as they are obligate nose breathers and cannot breathe through their mouth yet.
Treatment for choanal atresia typically involves surgical intervention to open up the nasal passage and restore normal breathing. The specific type of surgery may depend on the location and extent of the blockage. In some cases, follow-up surgeries or additional treatments may be necessary to ensure proper functioning of the nasal passage.
A coloboma is a congenital condition that results from incomplete closure of the optic fissure during fetal development. This results in a gap or hole in one or more structures of the eye, such as the iris, retina, choroid, or optic nerve. The size and location of the coloboma can vary widely, and it may affect one or both eyes.
Colobomas can cause a range of visual symptoms, depending on their size and location. Some people with colobomas may have no visual impairment, while others may experience reduced vision, double vision, or sensitivity to light. In severe cases, colobomas can lead to blindness.
Colobomas are usually diagnosed during routine eye exams and are typically not treatable, although some visual symptoms may be managed with glasses, contact lenses, or surgery in certain cases. Colobomas can occur as an isolated condition or as part of a genetic syndrome, so individuals with colobomas may benefit from genetic counseling to understand their risk of passing the condition on to their offspring.
A 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.
An auditory brainstem implant (ABI) is a surgically placed device that provides a sense of sound to individuals who have severe hearing loss and are unable to benefit from cochlear implants. Unlike cochlear implants, which stimulate the auditory nerve directly, ABIs stimulate the cochlear nucleus, a region in the brainstem responsible for processing sound.
During the ABI procedure, an electrode array is placed on the surface of the cochlear nucleus, and electrical signals are used to bypass damaged structures in the inner ear and auditory nerve. These signals are then transmitted to the brain, where they are interpreted as sound. The success of ABIs varies from person to person, but many individuals report improved ability to understand speech and recognize environmental sounds.
ABIs are typically recommended for people with hearing loss caused by damage to the auditory nerve or inner ear, such as those with neurofibromatosis type 2 (NF2), a genetic disorder that causes tumors to grow on the nerves responsible for hearing and balance. ABIs may also be considered for individuals who have had unsuccessful cochlear implantation due to damaged or absent auditory nerves.
'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.
DNA helicases are a group of enzymes that are responsible for separating the two strands of DNA during processes such as replication and transcription. They do this by unwinding the double helix structure of DNA, using energy from ATP to break the hydrogen bonds between the base pairs. This allows other proteins to access the individual strands of DNA and carry out functions such as copying the genetic code or transcribing it into RNA.
During replication, DNA helicases help to create a replication fork, where the two strands of DNA are separated and new complementary strands are synthesized. In transcription, DNA helicases help to unwind the DNA double helix at the promoter region, allowing the RNA polymerase enzyme to bind and begin transcribing the DNA into RNA.
DNA helicases play a crucial role in maintaining the integrity of the genetic code and are essential for the normal functioning of cells. Defects in DNA helicases have been linked to various diseases, including cancer and neurological disorders.
Kallmann Syndrome is a genetic condition that is characterized by hypogonadotropic hypogonadism (reduced or absent function of the gonads (ovaries or testes) due to deficient secretion of pituitary gonadotropins) and anosmia or hyposmia (reduced or absent sense of smell). It is caused by abnormal migration of neurons that produce gonadotropin-releasing hormone (GnRH) during fetal development, which results in decreased production of sex hormones and delayed or absent puberty.
Kallmann Syndrome can also be associated with other symptoms such as color vision deficiency, hearing loss, renal agenesis, and neurological defects. It is typically inherited in an autosomal dominant or X-linked recessive pattern, and diagnosis usually involves a combination of clinical evaluation, hormonal testing, and genetic analysis. Treatment may include hormone replacement therapy to induce puberty and maintain sexual function, as well as management of associated symptoms.
Sexual infantilism, also known as paraphilic infantilism or autonepiophilia, is a psychological condition where an individual has a persistent and intense sexual interest in role-playing as a baby or small child, often involving the use of diapers, clothing, and other props. This behavior is considered a paraphilia when it interferes with normal social functioning or causes distress to the individual or others. It's important to note that this behavior does not involve sexual contact with children, but rather derives sexual pleasure from acting like one.
It's worth mentioning that this condition is still not well understood and more research is needed to fully grasp its prevalence, causes, and treatment options. As always, if you or someone else is struggling with any kind of sexual disorder or distress, it's recommended to seek help from a mental health professional or medical doctor who specializes in sexual disorders.
'Deaf-blind disorders' is a term used to describe conditions that result in significant hearing and vision loss. This combination of sensory impairments can have a profound impact on an individual's ability to communicate, access information, and navigate their environment. It's important to note that the term 'deaf-blind' encompasses a wide range of severity and types of hearing and vision loss, and may be present from birth or acquired later in life due to factors such as illness, injury, or aging.
There is no single medical definition for deaf-blind disorders, but the term is often used to refer to individuals who have a significant combined visual and auditory impairment, defined as:
1. A visual acuity of less than 20/200 in the better eye with best correction, or a field restriction in both eyes to such an extent that the widest diameter of the visual field subtends an angle no greater than 20 degrees.
2. A hearing loss of 55 decibels or greater in the better ear, which is severe enough to require the use of amplification devices (such as hearing aids) or cochlear implants.
Deaf-blind disorders can be categorized into two main types: congenital and acquired. Congenital deaf-blindness refers to individuals who are born with both significant vision and hearing loss, often due to genetic factors, prenatal infections, or birth defects. Acquired deaf-blindness occurs when an individual develops significant vision and hearing loss later in life due to illness, injury, or aging.
Examples of conditions that can lead to deaf-blind disorders include:
* Usher syndrome: A genetic disorder that causes both hearing loss and retinitis pigmentosa, a degenerative eye condition leading to vision loss.
* CHARGE syndrome: A rare genetic disorder that can cause hearing loss, vision loss, and other developmental issues.
* Cerebral palsy: A neurological disorder that can result in both visual and auditory impairments due to brain damage during fetal development or birth.
* Age-related macular degeneration (AMD) and presbycusis: Both are common age-related conditions that can lead to vision and hearing loss, respectively.
* Infections such as meningitis, encephalitis, or cytomegalovirus (CMV) can cause both vision and hearing loss if they affect the brain or nervous system.
* Traumatic injuries, such as those caused by accidents or violence, can result in deaf-blindness if they damage the eyes, ears, or brain.
Deaf-blind individuals often face significant challenges in communication, mobility, and access to information. Specialized services, assistive technology, and support from professionals trained in deaf-blindness are crucial for helping these individuals lead fulfilling lives and reach their full potential.
Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.
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.
Septo-Optic Dysplasia (SOD) is a rare disorder that affects the development of the brain, eyes, and pituitary gland. It is also known as De Morsier's syndrome. The condition is characterized by underdevelopment of the optic nerve, which can lead to varying degrees of vision loss, from mild visual impairment to complete blindness.
The septum pellucidum, a part of the brain that separates the two hemispheres, may be absent or poorly formed in individuals with SOD. This can result in a range of neurological symptoms, including developmental delays, intellectual disability, and movement disorders.
Additionally, SOD is often associated with pituitary gland dysfunction, which can lead to hormonal imbalances and growth problems. Treatment for SOD typically involves managing the individual symptoms and may include vision therapy, special education services, and hormone replacement therapy.
The Eustachian tube, also known as the auditory tube or pharyngotympanic tube, is a narrow canal that connects the middle ear cavity to the back of the nasopharynx (the upper part of the throat behind the nose). Its function is to maintain equal air pressure on both sides of the eardrum and to drain any fluid accumulation from the middle ear. The Eustachian tube is lined with mucous membrane and contains tiny hair-like structures called cilia that help to move mucus and fluid out of the middle ear. It opens and closes to regulate air pressure and drainage, which typically occurs during swallowing or yawning.
The inner ear is the innermost part of the ear that contains the sensory organs for hearing and balance. It consists of a complex system of fluid-filled tubes and sacs called the vestibular system, which is responsible for maintaining balance and spatial orientation, and the cochlea, a spiral-shaped organ that converts sound vibrations into electrical signals that are sent to the brain.
The inner ear is located deep within the temporal bone of the skull and is protected by a bony labyrinth. The vestibular system includes the semicircular canals, which detect rotational movements of the head, and the otolith organs (the saccule and utricle), which detect linear acceleration and gravity.
Damage to the inner ear can result in hearing loss, tinnitus (ringing in the ears), vertigo (a spinning sensation), and balance problems.
Vestibular diseases are a group of disorders that affect the vestibular system, which is responsible for maintaining balance and spatial orientation. The vestibular system includes the inner ear and parts of the brain that process sensory information related to movement and position.
These diseases can cause symptoms such as vertigo (a spinning sensation), dizziness, imbalance, nausea, and visual disturbances. Examples of vestibular diseases include:
1. Benign paroxysmal positional vertigo (BPPV): a condition in which small crystals in the inner ear become dislodged and cause brief episodes of vertigo triggered by changes in head position.
2. Labyrinthitis: an inner ear infection that can cause sudden onset of vertigo, hearing loss, and tinnitus (ringing in the ears).
3. Vestibular neuronitis: inflammation of the vestibular nerve that causes severe vertigo, nausea, and imbalance but typically spares hearing.
4. Meniere's disease: a disorder characterized by recurrent episodes of vertigo, tinnitus, hearing loss, and a feeling of fullness in the affected ear.
5. Vestibular migraine: a type of migraine that includes vestibular symptoms such as dizziness, imbalance, and disorientation.
6. Superior canal dehiscence syndrome: a condition in which there is a thinning or absence of bone over the superior semicircular canal in the inner ear, leading to vertigo, sound- or pressure-induced dizziness, and hearing loss.
7. Bilateral vestibular hypofunction: reduced function of both vestibular systems, causing chronic imbalance, unsteadiness, and visual disturbances.
Treatment for vestibular diseases varies depending on the specific diagnosis but may include medication, physical therapy, surgery, or a combination of these approaches.
The sphenoid bone is a complex, irregularly shaped bone located in the middle cranial fossa and forms part of the base of the skull. It articulates with several other bones, including the frontal, parietal, temporal, ethmoid, palatine, and zygomatic bones. The sphenoid bone has two main parts: the body and the wings.
The body of the sphenoid bone is roughly cuboid in shape and contains several important structures, such as the sella turcica, which houses the pituitary gland, and the sphenoid sinuses, which are air-filled cavities within the bone. The greater wings of the sphenoid bone extend laterally from the body and form part of the skull's lateral walls. They contain the superior orbital fissure, through which important nerves and blood vessels pass between the cranial cavity and the orbit of the eye.
The lesser wings of the sphenoid bone are thin, blade-like structures that extend anteriorly from the body and form part of the floor of the anterior cranial fossa. They contain the optic canal, which transmits the optic nerve and ophthalmic artery between the brain and the orbit of the eye.
Overall, the sphenoid bone plays a crucial role in protecting several important structures within the skull, including the pituitary gland, optic nerves, and ophthalmic arteries.
Facial paralysis is a loss of facial movement due to damage or dysfunction of the facial nerve (cranial nerve VII). This nerve controls the muscles involved in facial expressions, such as smiling, frowning, and closing the eyes. Damage to one side of the facial nerve can cause weakness or paralysis on that side of the face.
Facial paralysis can result from various conditions, including:
1. Bell's palsy - an idiopathic (unknown cause) inflammation of the facial nerve
2. Trauma - skull fractures, facial injuries, or surgical trauma to the facial nerve
3. Infections - Lyme disease, herpes zoster (shingles), HIV/AIDS, or bacterial infections like meningitis
4. Tumors - benign or malignant growths that compress or invade the facial nerve
5. Stroke - damage to the brainstem where the facial nerve originates
6. Congenital conditions - some people are born with facial paralysis due to genetic factors or birth trauma
Symptoms of facial paralysis may include:
* Inability to move one or more parts of the face, such as the eyebrows, eyelids, mouth, or cheeks
* Drooping of the affected side of the face
* Difficulty closing the eye on the affected side
* Changes in saliva and tear production
* Altered sense of taste
* Pain around the ear or jaw
* Speech difficulties due to weakened facial muscles
Treatment for facial paralysis depends on the underlying cause. In some cases, such as Bell's palsy, spontaneous recovery may occur within a few weeks to months. However, physical therapy, medications, and surgical interventions might be necessary in other situations to improve function and minimize complications.
The middle ear is the middle of the three parts of the ear, located between the outer ear and inner ear. It contains three small bones called ossicles (the malleus, incus, and stapes) that transmit and amplify sound vibrations from the eardrum to the inner ear. The middle ear also contains the Eustachian tube, which helps regulate air pressure in the middle ear and protects against infection by allowing fluid to drain from the middle ear into the back of the throat.
The vestibular nerve, also known as the vestibulocochlear nerve or cranial nerve VIII, is a pair of nerves that transmit sensory information from the balance-sensing structures in the inner ear (the utricle, saccule, and semicircular canals) to the brain. This information helps the brain maintain balance and orientation of the head in space. The vestibular nerve also plays a role in hearing by transmitting sound signals from the cochlea to the brain.
DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.
The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.
DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.
The posterior cranial fossa is a term used in anatomy to refer to the portion of the skull that forms the lower, back part of the cranial cavity. It is located between the occipital bone and the temporal bones, and it contains several important structures including the cerebellum, pons, medulla oblongata, and the lower cranial nerves (IX-XII). The posterior fossa also contains the foramen magnum, which is a large opening through which the spinal cord connects to the brainstem. This region of the skull is protected by the occipital bone, which forms the base of the skull and provides attachment for several neck muscles.
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.
Deafness is a hearing loss that is so severe that it results in significant difficulty in understanding or comprehending speech, even when using hearing aids. It can be congenital (present at birth) or acquired later in life due to various causes such as disease, injury, infection, exposure to loud noises, or aging. Deafness can range from mild to profound and may affect one ear (unilateral) or both ears (bilateral). In some cases, deafness may be accompanied by tinnitus, which is the perception of ringing or other sounds in the ears.
Deaf individuals often use American Sign Language (ASL) or other forms of sign language to communicate. Some people with less severe hearing loss may benefit from hearing aids, cochlear implants, or other assistive listening devices. Deafness can have significant social, educational, and vocational implications, and early intervention and appropriate support services are critical for optimal development and outcomes.
Central nervous system (CNS) diseases refer to medical conditions that primarily affect the brain and spinal cord. The CNS is responsible for controlling various functions in the body, including movement, sensation, cognition, and behavior. Therefore, diseases of the CNS can have significant impacts on a person's quality of life and overall health.
There are many different types of CNS diseases, including:
1. Infectious diseases: These are caused by viruses, bacteria, fungi, or parasites that infect the brain or spinal cord. Examples include meningitis, encephalitis, and polio.
2. Neurodegenerative diseases: These are characterized by progressive loss of nerve cells in the brain or spinal cord. Examples include Alzheimer's disease, Parkinson's disease, and Huntington's disease.
3. Structural diseases: These involve damage to the physical structure of the brain or spinal cord, such as from trauma, tumors, or stroke.
4. Functional diseases: These affect the function of the nervous system without obvious structural damage, such as multiple sclerosis and epilepsy.
5. Genetic disorders: Some CNS diseases are caused by genetic mutations, such as spinal muscular atrophy and Friedreich's ataxia.
Symptoms of CNS diseases can vary widely depending on the specific condition and the area of the brain or spinal cord that is affected. They may include muscle weakness, paralysis, seizures, loss of sensation, difficulty with coordination and balance, confusion, memory loss, changes in behavior or mood, and pain. Treatment for CNS diseases depends on the specific condition and may involve medications, surgery, rehabilitation therapy, or a combination of these approaches.
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.
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.
DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.
The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.
DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.
It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.
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.
The olfactory bulb is the primary center for the sense of smell in the brain. It's a structure located in the frontal part of the brain, specifically in the anterior cranial fossa, and is connected to the nasal cavity through tiny holes called the cribriform plates. The olfactory bulb receives signals from olfactory receptors in the nose that detect different smells, processes this information, and then sends it to other areas of the brain for further interpretation and perception of smell.
In medical terms, the face refers to the front part of the head that is distinguished by the presence of the eyes, nose, and mouth. It includes the bones of the skull (frontal bone, maxilla, zygoma, nasal bones, lacrimal bones, palatine bones, inferior nasal conchae, and mandible), muscles, nerves, blood vessels, skin, and other soft tissues. The face plays a crucial role in various functions such as breathing, eating, drinking, speaking, seeing, smelling, and expressing emotions. It also serves as an important identifier for individuals, allowing them to be recognized by others.
Hospital charges refer to the total amount that a hospital charges for providing medical and healthcare services, including room and board, surgery, laboratory tests, medications, and other related expenses. These charges are typically listed on a patient's bill or invoice and can vary widely depending on the type of care provided, the complexity of the treatment, and the specific hospital or healthcare facility. It is important to note that hospital charges may not reflect the actual cost of care, as many hospitals negotiate discounted rates with insurance companies and government payers. Additionally, patients may be responsible for paying a portion of these charges out-of-pocket, depending on their insurance coverage and other factors.
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.
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.
CHARGE syndrome
Syndrome
Abruzzo-Erickson syndrome
3C syndrome
CHD7
Choanal atresia
Ribosomopathy
Semaphorin 3E
Judy Mikovits
Deaf plus
Jeffrey Koplan
2008 Queen's Birthday Honours (Australia)
Syndromic microphthalmia
Microphthalmia
Rachel Goswell
Jumping library
Frederick County Sheriff's Office (Maryland)
Death of Elijah McClain
Excited delirium
Sense, The National Deafblind and Rubella Association
Freedom Hosting
Enlarged vestibular aqueduct
Death of Olivia Gant
Equine-assisted therapy on autistic people
Neurocristopathy
Scoliosis
TBX1
Norman Kelley (journalist)
Chromatin remodeling
DiGeorge syndrome
CHARGE syndrome - Wikipedia
CHARGE Syndrome Differential Diagnoses
Idaho | Charge Syndrome Foundation
face | Charge Syndrome Foundation
Biotech Company Charged $325 for Aborted Down Syndrome Baby Skin, Senate Report Shows | Politics News
CHARGE Syndrome - EyeWiki
ERIC - EJ1017595 - Balance and Self-Efficacy of Balance in Children with CHARGE Syndrome, Journal of Visual Impairment &...
CHARGE Syndrome Foundation · New Parent Signup - Spanish
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CHARGE Syndrome: CHD7
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AUDIOLOGICAL ISSUES IN A CASE OF CHARGE SYNDROME
Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly - Nuffield Department of Clinical...
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2019, Thesis, Anxiety in individuals with Charge syndrome / - Central Michigan University Scholarly & Creative Works
Altmetric - CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon
2019, Thesis, Anxiety in individuals with Charge syndrome / - Central Michigan University Scholarly & Creative Works
Radiologic and Audiologic Findings in the Temporal Bone of Patients with CHARGE Syndrome | Ochsner Journal
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Genital Anomalies: Background, Anomalies in Males, Anomalies in Females
CHD720
- In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in the Netherlands, making CHARGE an official syndrome. (wikipedia.org)
- A 2006 US study of 110 individuals with CHARGE syndrome showed that 60% of those tested had a mutation of the CHD7 gene. (wikipedia.org)
- In 2010, a review of 379 clinically diagnosed cases of CHARGE syndrome, in which CHD7 mutation testing was undertaken found that 67% of cases were due to a CHD7 mutation. (wikipedia.org)
- Genetic testing for CHARGE syndrome involves specific genetic testing for the CHD7 gene. (wikipedia.org)
- Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. (medscape.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)
- Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. (medscape.com)
- CHARGE syndrome typically occurs spontaneously (i.e. no previous family history) due to a de novo mutation in the CHD7 gene located on chromosome 8q12. (aao.org)
- The cause of CHARGE is usually a new mutation (change) in the CHD7 gene, or rarely, genomic alterations in the region of chromosome 8q12.2 where the CHD7 gene is located. (netlify.app)
- Det leder bland annat till att barnet växer långsammare än förväntat och Charge \ CHD7 \ Choriodermi \ CHRNB1 \ CHRND \ CHRNE \ Chronic mucocutaneous candidiasis \ STAT1 \ AIRE \ CLCN1 \ Cloustens \ Cloustons syndrom Usher syndrom. (netlify.app)
- Mutations in the CHD7 gene cause CHARGE syndrome, a disorder that affects many areas of the body. (medlineplus.gov)
- More than 600 mutations that can cause CHARGE syndrome have been identified, and they occur throughout the CHD7 gene. (medlineplus.gov)
- More than 50 mutations in the CHD7 gene have been identified in people with Kallmann syndrome, a disorder characterized by the combination of hypogonadotropic hypogonadism (a condition affecting the production of hormones that direct sexual development) and an impaired sense of smell. (medlineplus.gov)
- Many people with Kallmann syndrome caused by a CHD7 gene mutation have some of the features of CHARGE syndrome (described above), such as abnormally shaped ears and hearing loss. (medlineplus.gov)
- Researchers suspect that Kallmann syndrome resulting from a CHD7 gene mutation may actually represent a mild form of CHARGE syndrome. (medlineplus.gov)
- Most of the CHD7 gene mutations that cause Kallmann syndrome alter single protein building blocks (amino acids) in the CHD7 protein. (medlineplus.gov)
- Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. (medlineplus.gov)
- Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical and suspected cases combined. (altmetric.com)
- The present observation suggests that deletion limited to the regulatory region of CHD7 is sufficient to cause the full blown CHARGE phenotype. (altmetric.com)
Sensory4
- Children with CHARGE syndrome have sensory and motor impairments that could negatively affect their balance and postural control. (ed.gov)
- 2006-10-01 · CHARGE syndrome is a genetic disorder (one in 10,000 to 15,000 live births) with multiple physical, sensory, and behavioral anomalies. (web.app)
- CHARGE Syndrome - is the most common cause of congenital deafblindness and a true multi-sensory impairment. (deafblindinternational.org)
- REPLACE yourself in their situation and give a child with CHARGE the time and support to REGULATE their mood, sensory input, thoughts and actions! (deafblindinternational.org)
Anomalies7
- CHARGE syndrome was formerly referred to as CHARGE association, which indicates a non-random pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance, but for which a common cause has not been identified. (wikipedia.org)
- Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. (medscape.com)
- CHARGE is an acronym for coloboma of the eye (tissue in the eye is missing), heart anomalies, atresia of the choanae (back of the nasal passage is blocked), retardation of growth and development, genital anomalies, and ear anomalies. (netlify.app)
- Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype. (netlify.app)
- CHARGE syndrome is a genetic disorder resulting in the association of multiple congenital anomalies. (journalofhearingscience.com)
- CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. (altmetric.com)
- 2 , 3 In 1981, after reviewing the cases of 21 children, Pagon et al first proposed the diagnostic criteria for CHARGE syndrome to describe the nonrandom association of ocular coloboma (C), congenital heart defects (H), choanal atresia or stenosis (A), central nervous system/developmental anomalies (R), genital hypoplasia (G), and ear anomalies (E). 4 Since then, several cases and updates have been published. (ochsnerjournal.org)
Patients23
- [4] It was found that 90-95% of patients fulfilling the formal diagnostic criteria for CHARGE syndrome are heterozygous for a CDH7 mutation or deletion. (aao.org)
- Ophthalmic abnormalities are found in 75-90% of CHARGE patients. (aao.org)
- In addition to visual impairment, colobomas predispose CHARGE syndrome patients to retinal detachment . (aao.org)
- [7] Other ophthalmic features that can occur in patients with CHARGE syndrome include microphthalmia, microcornea, cataracts, strabismus, cranial nerve VII palsy, and ptosis. (aao.org)
- Cardiac malformations are found in 75-85% of patients with CHARGE syndrome. (aao.org)
- Approximately 65% of patients with CHARGE syndrome may have obstructed breathing due to choanal atresia at birth. (aao.org)
- Genital hypoplasia is a common feature in patients with CHARGE Syndrome. (aao.org)
- [18] In addition to growth abnormalities, most CHARGE patients have impaired cognitive and communication ability. (aao.org)
- One study showed that 70% of CHARGE syndrome patients have an IQ less than 70. (aao.org)
- [21] Patients with CHARGE syndrome are also at risk for hypothyroidism [22] and recurrent suppurative ear and chest infections. (aao.org)
- The results also anpassningsstörning och somatoforma syndrom det vill säga fysiska symptom eller koppling treat patients free of charge. (netlify.app)
- Using mouse models, researchers from King's College London provide a clue as to why patients with CHARGE syndrome are deaf. (kcl.ac.uk)
- We performed a retrospective medical records review of 12 patients with CHARGE syndrome, identified between 1990-2011 at Princess Margaret Hospital for Children in Western Australia, who underwent temporal bone CT for evaluation of hearing loss. (ochsnerjournal.org)
- Oral and fecal microbiota in patients with diarrheal irritable bowel syndrome. (amedeo.com)
- Food as Medicine: How to Influence the Microbiome and Improve Symptoms in Patients with Irritable Bowel Syndrome. (amedeo.com)
- Dermatitis was evident in all patients with hyper-immunoglobulin (Ig) E syndrome and Wiskott-Aldrich syndrome. (medscape.com)
- who measured the size and charge characteristics of proteins leaking through the endothelial sieve in DHF patients ( 3 ). (cdc.gov)
- 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)
- 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)
- A neurophysiologic study of patients with sporadic Mobius syndrome demonstrated 2 distinct groups characterized by 1) increased facial distal motor latencies (DML) and poor recruitment of small neuropathic motor unit action potentials (MAUP) and 2) normal facial DMLs and neuropathic MAUPs. (medscape.com)
- Patients with inflammatory conditions, by stimulating the migration of electrical charges at sites of acute or chronic inflammation, show improvement in their pictures, by preventing "collateral damage" to healthy tissues in the vicinity of an injury. (bvsalud.org)
- Methods Currently, the program has about 1,000 registered patients being treated, free of charge, with basic health care. (bvsalud.org)
- Patients with Cerebral Palsy, Down syndrome and unknown mental deficits come from the institutions that assist patients with special needs. (bvsalud.org)
Severe9
- Studies suggest that these mutations have a less severe effect on protein function than those that cause CHARGE syndrome. (medlineplus.gov)
- Approximately half of individuals with CHARGE have severe to profound hearing loss. (journalofhearingscience.com)
- Hearing loss affects 60%-90% of children with CHARGE syndrome, with presentations of severe conductive or mixed hearing loss. (ochsnerjournal.org)
- Waardenburg syndrome type 3 is associated with facial, ocular abnormalities and is a more severe form of type 1. (eurorad.org)
- The next presenter will describe the treatment of severe problem behavior in a child with CHARGE syndrome. (abainternational.org)
- The third presenter will describe the treatment of severe aggression associated with Cornelia de Lange syndrome. (abainternational.org)
- In contrast, certain immunodeficient mouse models infected with mouse-adapted DENV strains show signs of severe disease similar to the 'vascular-leak' syndrome seen in severe dengue in humans. (mdpi.com)
- Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections, diarrhea, dermatitis, and failure to thrive. (medscape.com)
- 1 In 2005, the World Health Assembly approved a second edition of the International Health Regulations in response to growth in international travel and trade and the emergence of the severe acute respiratory syndrome, the first global public health emergency of the 21st century. (who.int)
Rubella syndrome2
- Fund raising for Sita, born with Rubella syndrome resulting in profound deafness. (riohelmi.com)
- Penggalian dana untuk Sita, lahir dengan Rubella Syndrome yang menyebabkan gangguan esktrim pendengaran. (riohelmi.com)
Gene6
- Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (medscape.com)
- 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)
- These changes in gene expression during embryonic development are thought to underlie the signs and symptoms of CHARGE syndrome. (aao.org)
- Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome. (medlineplus.gov)
- Mutations in this gene account for 5 to 10 percent of all cases of Kallmann syndrome. (medlineplus.gov)
- Vissers LE, van Ravenswaaij CM, Admiraal R et al: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (journalofhearingscience.com)
Clinically2
- CHARGE syndrome is diagnosed clinically. (aao.org)
- During an infection with any of the 4 dengue viruses, the principal threat to human health resides in the ability of the infecting virus to produce an acute febrile syndrome characterized by clinically significant vascular permeability, dengue hemorrhagic fever (DHF). (cdc.gov)
Prise en charge4
- Nous rapportons deux cas de syndrome de Lyell: le premier ayant présenté une complication oculaire due à l'absence de la prise en charge oculaire en phase aigüe. (bvsalud.org)
- Prise en charge du SIDA : une approche intégrée. (who.int)
- Les auteurs recommandent des interventions en matière d'éducation sanitaire au cours de programmes de formation avant l'entrée dans la vie active pour prévenir le syndrome d'épuisement professionnel, puis un dépistage systématique visant la détection précoce et la prise en charge de ce syndrome. (who.int)
- Il a été adapté du document de l'OMS intitulé Prévention et lutte contre les infections lors de la prise en charge de cas probables ou confirmés d'infection par le coronavirus du syndrome respiratoire du Moyen-Orient (MERS-CoV). (bvsalud.org)
Phenotypic1
- 5 , 17 , 18 , 25 , 27 These chromodomain helicase DNA (CHD) binding proteins affect a large number of developmental pathways, resulting in the varied phenotypic spectrum observed in CHARGE syndrome. (ochsnerjournal.org)
Genetic disorder4
- CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. (wikipedia.org)
- 6 Mar 2020 CHARGE syndrome is a rare genetic disorder that is regarded as the leading cause of CHARGE syndrome foundation professional packet. (web.app)
- CHARGE syndrome is a genetic disorder with a cluster of features affecting many parts of the body. (netlify.app)
- Waardenburg syndrome (WS), characterised by deafness and pigmentation abnormalities, is a heterogeneous genetic disorder that may be detected at birth or later in early childhood. (eurorad.org)
Symptoms7
- Clients who meet the criteria for a diagnosis of personality disorder (PD) This indicated a reduction in symptoms of emotional distress that I have realized now that the only one who is truly in charge of my recovery is me. (netlify.app)
- The commonly noticed CHARGE syndrome symptoms are as follows: Coloboma of eye is seen in 80-90% of the individuals diagnosed with CHARGE syndrome. (netlify.app)
- they also Personal hygiene fails, emotions falter, and symptoms become for the failure to get a charge out of things that give most people pleasure. (netlify.app)
- Symptoms associated with CHARGE syndrome vary, and precautions will differ according to the individual patient and the severity of accompanying language, … CHARGE syndrome- signs and symptomsSigns and symptoms in CHARGE syndromeSigns and symptoms derive from the six major features of the disease: coloboma, heart … CHARGE Syndrome At a Glance CHARGE syndrome is a pattern of differences seen at birth. (netlify.app)
- Smith IM, Nichols SL, Issekutz K, Blake K: Canadian Paediatric Surveillance Program: Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data. (journalofhearingscience.com)
- Decades after they contracted polio, symptoms can return in the form of post-polio syndrome (PPS). (abc.net.au)
- The constellation of vibration-induced signs and symptoms is referred to as hand-arm vibration syndrome (HAVS) (sometimes called Raynaud's phenomenon of occupational origin or vibration white finger disease). (cdc.gov)
Mutation4
- SEMA3E mutation in a patient with CHARGE syndrome. (medscape.com)
- CHARGE syndrome is thought to be caused by a mutation in the and act, people with CHARGE syndrome have some traits CHARGE Syndrome Foundation. (web.app)
- Several genes are known to cause this syndrome ( PAX3 , MITF , EDN3 , EDNRB, SOX10 ), with PAX3 mutation causing type 1 and 3 WS, MITF mutation causing most of type 2 WS. (eurorad.org)
- Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. (bvsalud.org)
Prevalence4
- The prevalence of CHARGE syndrome is 0.1-1.2 of10,000 live births. (aao.org)
- Blake KD, Issekutz KA, Smith IM et al: The incidence and prevalence of CHARGE syndrom. (journalofhearingscience.com)
- CHARGE syndrome is a common congenital anomaly with an estimated incidence of 1:12,000, and a prevalence of 1:10,000. (ochsnerjournal.org)
- Prevalence of irritable bowel syndrome and its association with colorectal cancer: a systematic review and meta-analysis. (amedeo.com)
20172
Developmental2
- Ideally, every child newly diagnosed with CHARGE syndrome should have a complete evaluation by an ENT specialist, audiologist, ophthalmologist, pediatric cardiologist, developmental therapist, and pediatric urologist. (wikipedia.org)
- Developmental causes The causes of developmental facial paralysis are numerous and may be associated with syndromes and teratogens. (medscape.com)
Clinical Features3
- CHARGE Syndrome is a rare genetic syndrome that produces a constellation of clinical features. (aao.org)
- Davenport SLH, Hefner MA, Mitchell JA: The spectrum of clinical features in CHARGE syndrome. (journalofhearingscience.com)
- We report here on a 5.9 years old male of Moroccan origin displaying classic clinical features of CHARGE syndrome. (altmetric.com)
Choanal atresia1
- CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defect, atresia choanae (also known as choanal atresia), growth retardation, genital abnormality, and ear abnormality. (medlineplus.gov)
10,0001
- Joe was born with a condition called CHARGE syndrome, which only occurs in one in 10,000 births, according to ChargeSyndrome.org . (huffingtonpost.co.uk)
Pattern of birth defects2
- MAJORS: CHARGE Syndrome is actually a recognizable pattern of birth defects, and it presents with a number of complex issues - specifically medical and physical. (web.app)
- CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child. (netlify.app)
People with CHARGE syndrome3
- He has worked with over 150 children and young people with CHARGE syndrome. (chargesyndrome.org.uk)
- The CHARGE Family Support Group is the UK's registered charity ( no: 1042953) for people with CHARGE Syndrome and their families.The group's aim is to create a positive, supportive network of individuals, parents, families and professionals to share ideas, experiences, information and give vital support. (chargesyndrome.org.uk)
- We are also open to interested parents, grandparents, other relatives or friends, and to people with CHARGE Syndrome themselves. (deafblindinternational.org)
Diagnosis of CHARGE syndrome4
- These features are no longer used in making a diagnosis of CHARGE syndrome, but the name remains. (wikipedia.org)
- The diagnosis of CHARGE syndrome is often difficult, because it is rare. (wikipedia.org)
- The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. (journalofhearingscience.com)
- Amiel J, Attiee-Bitach T, Marionowski R et al: Temporal bone anomaly proposed as a major criterion for diagnosis of CHARGE syndrome. (journalofhearingscience.com)
Diagnostic3
- Guideline] Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. (medscape.com)
- Hefner MA, Fassi E. Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. (medscape.com)
- MLPA and CGH techniques should be considered in the diagnostic protocol of individuals with a clinical suspect of CHARGE syndrome. (altmetric.com)
Acute3
- Children with Down Syndrome (DS) have a 2000-fold increased risk of atrioventricular septal defects (AVSD) and a 20-fold increased risk of acute lymphoblastic leukemia (ALL). (eurekalert.org)
- Four core syndromes were endorsed for surveillance: acute fever and rash, prolonged fever, influenza-like illness and acute watery diarrhoea. (who.int)
- 4 Four core syndromes, along with case definitions and important diseases to consider, were endorsed for surveillance: acute fever and rash, prolonged fever, influenza-like illness and acute watery diarrhoea. (who.int)
20191
- Ce document est la première édition des orientations relatives aux stratégies de lutte anti-infectieuse à mettre en œuvre en cas de suspicion d'infection par un nouveau coronavirus (2019-nCoV). (bvsalud.org)
20211
- The CHARGE Syndrome Foundation is seeking presenters for our upcoming virtual symposium, July 16-18, 2021. (web.app)
Pathogenesis2
- Sema3a plays a role in the pathogenesis of CHARGE syndrome. (medscape.com)
- Williams MS. Speculations on the pathogenesis of CHARGE syndrome. (medscape.com)
20201
- 2 Jul 2020 Easily learn more about the CHARGE Syndrome Foundation: Clinical Research Grant Program on Instrumentl. (web.app)
Epidemiological1
- An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. (medscape.com)
Impairments1
- Study looking at a range of behaviours, skills and impairments in CHARGE syndrome. (chargesyndrome.org.uk)
Findings3
- Other clinical findings in CHARGE include cranial nerve dysfunction, endocrine dysregulation, and recurrent infections. (aao.org)
- We present the detailed CT findings for children with CHARGE syndrome and the correlation of the CT findings with audiograms. (ochsnerjournal.org)
- A broad spectrum of clinical and pathological findings characterize this syndrome. (medscape.com)
Hypoplasia1
- CHARGE is a congenital disorder and an acronym for the constellation of medical problems that define this syndrome: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth or development, genital hypoplasia, and ear malformation. (abainternational.org)
Coloboma of the eye1
- First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. (wikipedia.org)
Behavioral1
- The number of children diagnosed with CHARGE Syndrome is increasing, and several studies have reported that children with CHARGE syndrome exhibit multiple behavioral problems (e.g., repetitive behaviors, non-compliance, and social skills deficits) and educational problems. (abainternational.org)
Occur2
Buffalo Grove1
- The Charge Syndrome Foundation, Buffalo Grove, Illinois. (web.app)
Autosomal1
- Autoimmunt polyendokrint syndrom typ 1 · Autosomal dominant Bartters syndrom och Gitelmans syndrom · Beckers muskeldystrofi CHARGE-syndromet. (netlify.app)
Study8
- CHARGE Association in newborns: a registry-based study. (medscape.com)
- Methods: Twenty-one children with CHARGE syndrome aged 6-12 and 31 age- and gender-matched sighted control participants without CHARGE syndrome completed the study. (ed.gov)
- A clinical psychiatric study of 76 individuals with Möbius sequence, CHARGE syndrome, and oculo-auriculo-vertebral spectrum Hög risk för psykos vid velo-kardio-facialt syndrom. (netlify.app)
- The objectives of this study are to determine the genetic variants underlying AVSD and ALL risk in children with Down Syndrome. (eurekalert.org)
- Environmental pesticide exposure and the risk of irritable bowel syndrome: A case-control study. (amedeo.com)
- In this study, principles of applied behavior analysis (ABA) were used to decrease self-injurious and disruptive behaviors for a 5-year old boy with CHARGE syndrome. (abainternational.org)
- This association has controls prior to their participation in our been termed the antiphospholipid syndrome study. (who.int)
- In response to a request from the International Chemical Workers Union, a study was made of carpal tunnel syndrome, ganglionic cysts, and tendonitis of the wrists in production workers at ICI Americas Inc. ammunition facility (SIC-3483) in Charlestown, Indiana. (cdc.gov)
Children18
- Although genetic testing positively identifies nearly two thirds of children with CHARGE syndrome, diagnosis is still largely clinical. (wikipedia.org)
- The following signs were originally identified in children with this syndrome, but are no longer used to make the diagnosis alone. (wikipedia.org)
- Children with CHARGE syndrome will vary greatly in their abilities in the classroom: some may need little support, while some may require full-time support and individualized programs. (wikipedia.org)
- [19] Behaviorally, children with CHARGE syndrome have been reported to engage in social withdrawal, repetitive motor mannerisms, and have difficulty sleeping. (aao.org)
- Most children with CHARGE syndrome also had low ABC scores, and these scores were moderately correlated with the PBS scores ('r' = 0.56), but were not significantly associated with gender ('r' = 0.065) or age ('r' = 0.169). (ed.gov)
- Discussion: A relationship was found between the balance self-efficacy of the children with CHARGE syndrome and their objectively measured balance. (ed.gov)
- Implications for practitioners: Practitioners should understand that children with CHARGE syndrome will likely have poorer balance and lower confidence in their balance. (ed.gov)
- Children with CHARGE typically undergo 10 surgeries before age 3. (web.app)
- This book describes the communication delays that are common in children with Down syndrome. (chop.edu)
- The day is aimed at Families with children with CHARGE Syndrome. (chargesyndrome.org.uk)
- The management of children with CHARGE syndrome is complex, requiring early evaluation and close attention of the multidisciplinary team. (ochsnerjournal.org)
- The final presentation will summarize the assessment and treatment of self-injury and other problem behaviors in a group of children with Smith-Lemli-Opitz syndrome. (abainternational.org)
- list of all the positive qualities of children with CHARGE syndrome. (deafblindinternational.org)
- Children with CHARGE can be very COMMUNICATIVE hereby visual and tactile COMPONENTS can help them. (deafblindinternational.org)
- Social behaviour could seem a bit odd, but children with CHARGE love to be in CONTACT. (deafblindinternational.org)
- A: The level of AROUSAL changes constantly in children with CHARGE. (deafblindinternational.org)
- E: Children with CHARGE love to EXPLORE the world and the people in it! (deafblindinternational.org)
- For these two core syndromes, there were generally more females than males, and about one third were children aged under 5 years. (who.int)
Disorders1
- Improving our understanding of the neurodevelopmental disorders caused by CHARGE syndrome could open the way for new treatments. (chargesyndrome.org.uk)
Assessment1
- A direct assessment of autism, such as with 21 Nov 2015 CHARGE Syndrome - CRASH! (netlify.app)
Identifies1
- Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. (medscape.com)
Upper airway1
- [11] Other upper airway abnormalities that can be seen in CHARGE syndrome include: laryngomalacia, tracheomalacia, tracheoesophageal fistula, and subglottic stenosis. (aao.org)
Abnormalities2
- Antenatal screening for Down Syndrome and other chromosomal abnormalities: increasingly complex issues. (nih.gov)
- It often involves abnormalities of the extremities, including absence of the pectoralis major muscle in Poland syndrome. (medscape.com)
Child13
- Lev D, Nakar O, Bar-Am I, Zudik A, Watemberg N, Finkelstien S. CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping. (medscape.com)
- The authors present a case of a 4 year old child diagnosed with CHARGE syndrome that was referred to our department due to complete absence of expressive language and reaction to sounds. (journalofhearingscience.com)
- It is an extremely "complex" syndrome, involving medical and physical difficulties that differ from child to child. (huffingtonpost.co.uk)
- In a reversal design with a child with CHARGE Syndrome, there was initial but not sustained experimental control demonstrating higher responding with edibles compared to praise. (abainternational.org)
- A child with CHARGE faces a lot of difficulties and challenges in daily life. (deafblindinternational.org)
- C: A child with CHARGE is CREATIVE in finding solutions to COMPENSATE! (deafblindinternational.org)
- H: A child with CHARGE has lots of HUMOR! (deafblindinternational.org)
- R: A child with CHARGE needs REST and REGULARITY, this gives structure and lowers stress levels. (deafblindinternational.org)
- A child with CHARGE can be EMOTIONALLY UNBALANCED and needs you to help regulate EMOTIONS. (deafblindinternational.org)
- The child with CHARGE is the EXPERT about his own possibilities and challenges. (deafblindinternational.org)
- Kenneth Toohey, 82, contracted polio as a child in 1938, and has been dealing with post-polio syndrome for two decades. (abc.net.au)
- A child with Möbius syndrome is depicted below. (medscape.com)
- Child with Möbius syndrome, eyes open. (medscape.com)
Disease1
- Waardenburg syndrome type 4 also known as Waardenburg -Hirschsprung disease as it is associated with aganglionic megacolon. (eurorad.org)
Chez3
- RÉSUMÉ Le syndrome d''épuisement professionnel chez les agents de santé en Égypte est assez mal connu. (who.int)
- La présente étude visait à mettre en évidence la fréquence et l'étendue des cas d'épuisement professionnel chez des médecins et personnels infirmiers exerçant aux urgences de l'hôpital universitaire de Tanta et à identifier certains de ses déterminants. (who.int)
- Une analyse multivariée des variables ayant un impact sur l'épuisement professionnel a démontré que l'âge, le sexe, la fréquence des expositions à la violence liée au travail, les années d'expérience, la charge de travail, la supervision et les activités professionnelles étaient des facteurs prédictifs importants de l'épuisement professionnel chez les répondants. (who.int)