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Pitt–Hopkins Syndrome
Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Pitt-Hopkins syndrome can be marked by intellectual disabilities as well also problems with socializing. It is part of the clinical spectrum of Rett-like syndromes. As more is learned about Pitt–Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety, autism, ADHD, and sensory disorders. It is associated with an abnormality within chromosome 18 which causes insufficient expression of the TCF4 gene. Those with PTHS have reported high rates of self-injury and aggressive behaviors usually related to autism and their sensory disorders. PTHS has traditionally been associated with severe cognitive impairment, however true intelligence is difficult to measure given motor and speech difficulties. Thanks to augmentative communication an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Psychiatry
Psychiatry is the medical specialty devoted to the diagnosis, prevention, and treatment of mental disorders. These include various maladaptations related to mood, behaviour, cognition, and perceptions. See glossary of psychiatry. Initial psychiatric assessment of a person typically begins with a case history and mental status examination. Physical examinations and psychological tests may be conducted. On occasion, neuroimaging or other neurophysiological techniques are used. Mental disorders are often diagnosed in accordance with clinical concepts listed in diagnostic manuals such as the ''International Classification of Diseases'' (ICD), edited and used by the World Health Organization (WHO) and the widely used '' Diagnostic and Statistical Manual of Mental Disorders'' (DSM), published by the American Psychiatric Association (APA). The fifth edition of the DSM (DSM-5) was published in May 2013 which re-organized the larger categories of various diseases and expanded upon the p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blausen 0785 Scoliosis 01
Blausen Medical Communications, Inc. is the creator and owner of a library of two- and three-dimensional medical and scientific images and animations, a developer of information technology allowing access to that content, and a business focused on licensing and distributing the content. It was founded by Bruce Blausen in Houston, Texas, in 1991, and is privately held. Background Blausen Medical Communications, Inc. (BMC) is a privately held company founded by Bruce Blausen in Houston, Texas in 1991. BMC created and owns a library of medical and scientific images and animations, and has developed information technology Information technology (IT) is the use of computers to create, process, store, retrieve, and exchange all kinds of data . and information. IT forms part of information and communications technology (ICT). An information technology system (I ... tools allowing access to the library; as well, it licenses and otherwise works to distribute the content. As o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contactin
Contactins are a subgroup of molecules belonging to the immunoglobulin superfamily that are expressed exclusively in the nervous system In biology, the nervous system is the highly complex part of an animal that coordinates its actions and sensory information by transmitting signals to and from different parts of its body. The nervous system detects environmental changes th .... These proteins are attached to the neuronal membrane by a GPI-anchor. The subgroup consists of six members now referred to as contactin 1-6, but historically they had different names as shown in the table below: References {{Chemistry index Cell adhesion molecules GPI-Linked proteins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 18
Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 80 million base pairs (the building material of DNA) and represents about 2.5 percent of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 18. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 18. For complete list, see the link in the infobox on the right. Diseases and disorders The following diseases are some of those related to genes o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haploinsufficiency
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a ''de novo'' or inherited loss-of-function mutation in the variant allele, such that it yields little or no gene product (often a protein). Although the other, standard allele still produces the standard amount of product, the total product is insufficient to produce the standard phenotype. This heterozygous genotype may result in a non- or sub-standard, deleterious, and (or) disease phenotype. Haploinsufficiency is the standard explanation for dominant deleterious alleles. In the alternative case of haplosufficiency, the loss-of-function allele behaves as above, but the single standard allele in the heterozygous genotype produces sufficient gene product to produce the same, standard phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macule
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology ( chronic blistering conditions), cause (skin conditions result ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness (tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness (focal seizure), to a subtle momentary loss of awareness (absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Urinary incontinence, Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Constipation
Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the bowel movement. Complications from constipation may include hemorrhoids, anal fissure or fecal impaction. The normal frequency of bowel movements in adults is between three per day and three per week. Babies often have three to four bowel movements per day while young children typically have two to three per day. Constipation has many causes. Common causes include slow movement of stool within the colon, irritable bowel syndrome, and pelvic floor disorders. Underlying associated diseases include hypothyroidism, diabetes, Parkinson's disease, celiac disease, non-celiac gluten sensitivity, colon cancer, diverticulitis, and inflammatory bowel disease. Medications associated with constipation include opioids, certain antacids, calcium channel blockers, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyanosis
Cyanosis is the change of body tissue color to a bluish-purple hue as a result of having decreased amounts of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Body tissues that show cyanosis are usually in locations where the skin is thinner, including the mucous membranes, lips, nail beds, and ear lobes. Some medications containing amiodarone or silver, Mongolian spots, large birth marks, and the consumption of food products with blue or purple dyes can also result in the bluish skin tissue discoloration and may be mistaken for cyanosis. Cyanosis is further classified into central cyanosis vs. peripheral cyanosis. Pathophysiology The mechanism behind cyanosis is different depending on whether it is central or peripheral. Central cyanosis Central cyanosis is caused by a decrease in arterial oxygen saturation (SaO2) and begins to show once the concentration of deoxyhemoglobin in the blood reaches a concentration of ≥ 5.0 g/dL (≥ 3.1 mmol/L ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperventilation
Hyperventilation is irregular breathing that occurs when the rate or tidal volume of breathing eliminates more carbon dioxide than the body can produce. This leads to hypocapnia, a reduced concentration of carbon dioxide dissolved in the blood. The body normally attempts to compensate for this homeostatically, but if this fails or is overridden, the blood pH will rise, leading to respiratory alkalosis. The symptoms of respiratory alkalosis include: dizziness, tingling in the lips, hands or feet, headache, weakness, fainting, and seizures. In extreme cases it may cause carpopedal spasms, a flapping and contraction of the hands and feet. Factors that may induce or sustain hyperventilation include: physiological stress, anxiety or panic disorder, high altitude, head injury, stroke, respiratory disorders such as asthma, pneumonia, or hyperventilation syndrome, cardiovascular problems such as pulmonary embolisms, anemia, an incorrectly calibrated medical respirator, and adverse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryptorchidism
Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism may develop after infancy, sometimes as late as young adulthood, but that is exceptional. Cryptorchidism is distinct from monorchism, the condition of having only one testicle. Though the condition may occur on one or both sides, it more commonly affects the right testis. A testis absent from the normal scrotal position may be: # Anywhere along the "path of descent" from high in the posterior (retroperitoneal) abdomen, just below the kidney, to the inguinal ring ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
