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Homocystinuria
Homocystinuria or 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 cysta ... [...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), * methylcys ... [...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, despite a close physiological relation between them, from blushing, which is 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 na ... [...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 (WHO), a subluxation is a "significant structural displacement", and is therefore always visible on static imaging studies, such as X-rays. In contrast, the chiropractic belief of "vertebral subluxation" may or may not involve a significant displacement or even pain or clear dysfunction.WHO guidelines on basic training and safety in chiropractic p. 4, including footnote. Joints [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pectus Carinatum
Pectus carinatum, also called pigeon chest, is a malformation of the chest characterized by a protrusion of the sternum and ribs. It is distinct from the related malformation pectus excavatum. 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 in an outward position. Thus, respirations are inefficient and the individual needs to use the accessory muscles for respiration, rather than normal chest muscles, during strenuous exercise. This negatively affects gas exchange and causes a decrease in stamina. Children with pectus malformations often tire sooner than their peers due to shortness of breath and fatigue. Commonly concurrent is mild to moderate asthma. Some children with pectus carinatum also have scoliosis (i.e., curvature of the spine). Some have mitral valve prolapse, a condition in which t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dolichostenomelia
Dolichostenomelia is a human condition or habitus in which the limbs are unusually long. The name is derived from Ancient Greek (''dolichos'' - long, ''steno'' - short, narrow, close, ''melia'' - of the limbs). It is a common feature of several kinds of hereditary disorders which affect connective tissue, such as Marfan syndrome and homocystinuria. __TOC__ In fiction The condition is mentioned in the Rizzoli & Isles episode Boston Strangler Redux; Maura Isles ( Sasha Alexander) is on a date with a man whom she diagnoses as having Marfan Syndrome, which she says "explains the dolichostenomelia." See also * Arachnodactyly Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ... References Musculoskeletal disorders {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homocysteine
Homocysteine is a non-proteinogenic α-amino acid. It is a homologue of the amino acid cysteine, differing by an additional methylene bridge (-CH2-). 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 certain B-vitamins. High levels of homocysteine in the blood ( hyperhomocysteinemia) is regarded as a marker of cardiovascular disease, likely working through atherogenesis, which can result in 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 arteries, which supply the heart with oxygenated blood. Hyperhomocysteinemia has been correlated with the occurrence of blood clots, heart attacks, and strokes, although it is unclear whether hyperhomocysteinemia is an independent risk factor for these c ... [...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, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genu Valgum
Genu, a Latin word for "knee," may refer to: * Genu of internal capsule * Genu of the corpus callosum * Genu recurvatum * Genu valgum * Genu varum Genu varum (also called bow-leggedness, bandiness, bandy-leg, and tibia vara) is a varus deformity marked by (outward) bowing at the knee, which means that the lower leg is angled inward ( medially) in relation to the thigh's axis, giving th ... * Genu, Iran (other), places in Iran {{dab ... [...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. 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 may also experience chest and back pain, which is usually of musculoskeletal origin. In mild cases, cardiorespiratory function is normal, although the heart c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectopia Lentis
Ectopia lentis is a displacement or malposition of the eye's crystalline 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 ... [...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 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. 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 seizures may be exacerbated by stress ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Psychiatric Disease
A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitting, or occur as single episodes. Many disorders have been described, with signs and symptoms that vary widely between specific disorders. Such disorders may be diagnosed by a mental health professional, usually a clinical psychologist or psychiatrist. The causes of mental disorders are often unclear. Theories may incorporate findings from a range of fields. Mental disorders are usually defined by a combination of how a person behaves, feels, perceives, or thinks. This may be associated with particular regions or functions of the brain, often in a social context. A mental disorder is one aspect of mental health. Cultural and religious beliefs, as well as social norms, should be taken into account when making a diagnosis. Services are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
