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Homocystinuria
Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate. Signs and symptoms This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague. Signs and symptoms of homocystinuria that may be seen include the following: Cause It is usually caused by the deficiency of the enzyme cyst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystathionine Beta Synthase
Cystathionine-β-synthase, also known as CBS, is an enzyme () that in humans is encoded by the ''CBS'' gene. It catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine: : L-serine + L-homocysteine \rightleftharpoons L-cystathionine + H2O CBS uses the cofactor pyridoxal-phosphate (PLP) and can be allosterically regulated by effectors such as the ubiquitous cofactor ''S''-adenosyl-L-methionine (adoMet). This enzyme belongs to the family of lyases, to be specific, the hydro-lyases, which cleave carbon-oxygen bonds. CBS is a multidomain enzyme composed of an N-terminal enzymatic domain and two CBS domains. The ''CBS'' gene is the most common locus for mutations associated with homocystinuria. Nomenclature The systematic name of this enzyme class is L-serine hydro-lyase (adding homocysteine; L-cystathionine-forming). Other names in common use include: * β-thionase, * cysteine synthase, * L-serine hydro-lyase (adding homocysteine), * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Flushing (physiology)
Flushing is to become markedly red in the face and often other areas of the skin, from various physiological conditions. Flushing is generally distinguished from blushing, since blushing is psychosomatic, milder, generally restricted to the face, cheeks or ears, and generally assumed to reflect emotional stress, such as embarrassment, anger, or romantic stimulation. Flushing is also a cardinal symptom of carcinoid syndrome—the syndrome that results from hormones (often serotonin or histamine) being secreted into systemic circulation. Causes * abrupt cessation of physical exertion (resulting in heart output in excess of current muscular need for blood flow) * abdominal cutaneous nerve entrapment syndrome (ACNES), usually in patients who have had abdominal surgery * alcohol flush reaction * antiestrogens such as tamoxifen * atropine poisoning * body contact with warm or hot water (hot tub, bath, shower) * butorphanol reaction with some narcotic analgesics (since but ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subluxation
A subluxation is an incomplete or partial dislocation of a joint or organ. According to the World Health Organization, a subluxation is a "significant structural displacement" and is therefore visible on static imaging studies, such as X-rays. Unlike real subluxations, the pseudoscientific concept of a chiropractic "vertebral subluxation" may or may not be visible on x-rays. The term is used in the fields of medicine, dentistry, and chiropractic. There is no scientific evidence for the existence of chiropractic subluxations or proof they or their treatment have any effects on health. Medical Joints A subluxation of a joint is where a connecting bone is partially out of the joint. In contrast to a luxation, which is a complete separation of the joint, a subluxation often returns to its normal position without additional help from a health professional. An example of a joint subluxation is a nursemaid's elbow, which is the subluxation of the head of the radius from the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pectus Carinatum
Pectus carinatum, also called pigeon chest or pidgon breast, is a malformation of the chest characterized by a protrusion of the Human sternum, sternum and ribs. It is distinct from the related malformation pectus excavatum. Pectus carinatum has an estimated prevalence of approximately 1 in 1,000 to 1,500 live births, though specific figures vary geographically. It is generally less common than pectus excavatum. The condition is more frequently observed in males, with a male-to-female ratio ranging from 4:1 to 7:1. It typically becomes more noticeable during periods of rapid growth, such as early adolescence. Signs and symptoms People with pectus carinatum usually develop normal hearts and lungs, but the malformation may prevent these from functioning optimally. In moderate to severe cases of pectus carinatum, the chest wall is rigidly held outwardly. Thus, respirations are inefficient, and the individual needs to use the accessory muscles for respiration, rather than normal ches ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dolichostenomelia
Dolichostenomelia is a human condition in which the limbs are unusually long. The name is derived . It is a common feature of several kinds of hereditary disorders which affect connective tissue, such as Marfan syndrome and homocystinuria Homocystinuria (HCU) is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to .... References Musculoskeletal disorders {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homocysteine
Homocysteine (; symbol Hcy) is a non-proteinogenic α-amino acid. It is a homologous series, homologue of the amino acid cysteine, differing by an additional methylene bridge (). It is biosynthesized from methionine by the removal of its terminal Cε methyl group. In the body, homocysteine can be recycled into methionine or converted into cysteine with the aid of Vitamin B6, vitamin B6, Folate, B9, and Vitamin B12, B12. High levels of homocysteine in the blood (hyperhomocysteinemia) is regarded as a marker of cardiovascular disease, likely working through atherogenesis, which can result in Ischemia, ischemic injury. Therefore, hyperhomocysteinemia is a possible risk factor for coronary artery disease. Coronary artery disease occurs when an atherosclerotic plaque blocks blood flow to the Coronary artery, coronary arteries, which supply the heart with oxygenated blood. Hyperhomocysteinemia has been correlated with the occurrence of blood clots, heart attacks, and strokes, although ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genu Valgum
Genu valgum, commonly called "knock-knee", is a condition in which the knees angle in and touch each other when the human leg, legs are straightened. Individuals with severe valgus deformity, valgus deformities are typically unable to touch their feet together while simultaneously straightening the legs. The term originates , but is also used to describe the Anatomical terms of location#Proximal and distal, distal portion of the knee joint which bends outwards and thus the Anatomical terms of location#Proximal and distal, proximal portion seems to be bent inwards. Mild genu valgum is diagnosed when a person standing upright with the feet touching also shows the knees touching. It can be seen in children from ages 2 to 5, and is often corrected naturally as children grow. The condition may continue or worsen with age, particularly when it is the result of a disease, such as rickets. Idiopathic genu valgum is a form that is either congenital or has no known cause. Other systemic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pectus Excavatum
Pectus excavatum is a structural deformity of the anterior thoracic wall in which the sternum and rib cage are shaped abnormally. This produces a caved-in or sunken appearance of the chest. It can either be present at birth or develop after puberty. Pectus excavatum can impair cardiac and respiratory function and cause pain in the chest and back. People with the condition may experience severe negative psychosocial effects and avoid activities that expose the chest. Etymology Pectus excavatum is from Latin meaning ''hollowed chest''. It is sometimes referred to as sunken chest syndrome, cobbler's chest or funnel chest. Signs and symptoms The hallmark of the condition is a sunken appearance of the sternum. The most common form is a cup-shaped concavity, involving the lower end of the sternum; a broader concavity involving the upper costal cartilages is possible. The lower-most ribs may protrude ("flared ribs"). Pectus excavatum defects may be symmetric or asymmetric. People ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectopia Lentis
Ectopia lentis is a displacement or malposition of the eye's lens from its normal location. A partial dislocation of a lens is termed lens subluxation or subluxated lens; a complete dislocation of a lens is termed lens luxation or luxated lens. Ectopia lentis in dogs and cats Although observed in humans and cats, ectopia lentis is most commonly seen in dogs. Ciliary zonules normally hold the lens in place. Abnormal development of these zonules can lead to primary ectopia lentis, usually a bilateral condition. Luxation can also be a secondary condition, caused by trauma, cataract formation (decrease in lens diameter may stretch and break the zonules), or glaucoma (enlargement of the globe stretches the zonules). Steroid administration weakens the zonules and can lead to luxation, as well. Lens luxation in cats can occur secondary to anterior uveitis (inflammation of the inside of the eye). Anterior lens luxation With anterior lens luxation, the lens pushes into the iris or ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Psychiatric Disease
A mental disorder, also referred to as a mental illness, a mental health condition, or a psychiatric disability, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. A mental disorder is also characterized by a clinically significant disturbance in an individual's cognition, emotional regulation, or behavior, often in a social context. Such disturbances may occur as single episodes, may be persistent, or may be relapsing–remitting. There are many different types of mental disorders, with signs and symptoms that vary widely between specific disorders. A mental disorder is one aspect of mental health. The causes of mental disorders are often unclear. Theories incorporate findings from a range of fields. Disorders may be associated with particular regions or functions of the brain. Disorders are usually diagnosed or assessed by a mental health professional, such as a clinical psychologist, psychiatrist, psychiatric nurs ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
