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Homocysteinuria
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 cy ... [...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] |
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] |
Nearsightedness
Myopia, also known as near-sightedness and short-sightedness, is an eye condition where light from distant objects focuses in front of, instead of on, the retina. As a result, distant objects appear blurry, while close objects appear normal. Other symptoms may include headaches and eye strain. Severe myopia is associated with an increased risk of macular degeneration, retinal detachment, cataracts, and glaucoma. Myopia results from the length of the eyeball growing too long or less commonly the lens being too strong. It is a type of refractive error. Diagnosis is by the use of cycloplegics during eye examination. Tentative evidence indicates that the risk of myopia can be decreased by having young children spend more time outside. This decrease in risk may be related to natural light exposure. Myopia can be corrected with eyeglasses, contact lenses, or by refractive surgery. Eyeglasses are the simplest and safest method of correction. Contact lenses can provide a relativel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lens (anatomy)
The lens, or crystalline lens, is a Transparency and translucency, transparent Biconvex lens, biconvex structure in most land vertebrate eyes. Relatively long, thin fiber cells make up the majority of the lens. These cells vary in architecture and are arranged in concentric layers. New layers of cells are recruited from a thin epithelium at the front of the lens, just below the basement membrane surrounding the lens. As a result the vertebrate lens grows throughout life. The surrounding lens membrane referred to as the lens capsule also grows in a systematic way, ensuring the lens maintains an optically suitable shape in concert with the underlying fiber cells. Thousands of suspensory ligaments are embedded into the capsule at its largest diameter which suspend the lens within the eye. Most of these lens structures are derived from the epithelium of the embryo before birth. Along with the cornea, aqueous humour, aqueous, and vitreous humours, the lens Refraction, refracts light, Fo ... [...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] |
Marfan Syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically have hypermobility (joints), exceptionally flexible joints and scoliosis, abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the dura mater, covering of the spinal cord are also commonly affected. The severity of the symptoms is variable. MFS is caused by a mutation in ''FBN1'', one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria, family history and genetic testing (DNA analysis). Th ... [...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] |
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] |
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] |
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] |
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] |
