| 영문 | muscle biopsy | 한글 | 근육생검 |
|---|---|---|---|
| 설명 | 생체내에서 근육에 대한 질병의 감별진단을 위해서 실시하는 검사법. 방법은 병터가 있는 부위나 혹은 없어도 크게 활동에 지장이 없는 근육부위의 조직을 떼어 현미경적으로 검사한다. 예를 들어 신경조직의 이상으로 인한 근육병터의 경우, 근육생검을 하여 관찰해보면 이른바 “무리진 위축(grouped atrophy)”이 나타나서, 다른 병터에 의한 것과 감별이 가능하다. |
||
| 영문 | smooth muscle | 한글 | 민무늬근육, 평활근육 |
|---|---|---|---|
| 설명 | 근육 중에서 가로무늬가 없는 근. 가로무늬근에 대응되는 말이다. 척추동물에서는 심장근 이외의 내장근은 모두가 민무늬근이다. 많은 내장장기의 벽에 분포되어 있으며, 대개 돌림층과 세로층의 두 층으로 배열되어 있다. 소화관이나 요관 같은 관모양의 구조에서는 꿈틀운동을 일으켜 내용물이 아래로 내려가게 하는 작용을 한다. 항문관, 위, 요도 등에서는 돌림층의 근육이 특히 두꺼워져 내용물이 내려가는 것을 조절하는 조임근육이 형성되어 있다. 혈관에는 돌림층만 있으며, 혈관을 수축하여 혈액을 쥐어짜는 작용을 한다. 또한 자율신경의 지배를 받으며, 우리의 의지와 관계없이 작용한다. |
||
| 영문 | voluntary muscle | 한글 | 수의근 |
|---|---|---|---|
| 설명 | 의지의 힘으로 움직일 수 있는 근육. 골격근 외에 피부 내의 피근, 관절주머니에 부착하고 있는 관절근 등이 여기에 속한다. 수의근의 근섬유에는 가로무늬가 있으므로 가로무늬근이라고도 하나, 심장근은 가로 무늬가 있어도 수의근이 아니므로 수의근과 가로무늬근은 동의어는 아니다. 수의근의 운동은 민무늬근보다 빠르다. 수의근이라 해도 골격근 등은 근육무리로서 움직일 수 있으나, 개개의 근육은 따로따로 마음대로 움직이게 할 수 없다. 귓바퀴근육은 사람의 경우 발육이 나빠 마음대로 움직이게 하기 어렵다. |
||
| 영문 | facial muscle | 한글 | 얼굴근육 |
|---|---|---|---|
| 설명 | 얼굴의 피부를 움직이고 이에 부착되어 있는 얼굴신경의 공급을 받는 수많은 근육을 포함하는 얼굴표정근이나 모방근. |
||
| PFKL | phosphofructokinase, liver type; 6-phosphofructo-2-kinase, liver type |
|---|---|
| PFKP | phosphofructokinase, platelet type; 6-phosphofructo-2-kinase, platelet type |
| IGD | idiopathic growth hormone deficiency; interglobal distance; isolated gonadotropin deficiency |
| ASM | acid sphingomyelinase; airway smooth muscle; American Society for Microbiology; anterior scalenus mu... |
| CM | California mastitis [test]; calmodulin; capreomycin; carboxymethyl; cardiac murmur; cardiac muscle; ... |
| arginase deficiency | <biochemistry> Arginase is the fifth enzyme of the urea cycle and catalyses the hydrolysis of arginine to ornithine and urea as the final step in the detoxification of ammonia. Deficiency of the enzyme results in hyperargininaemia and episodic hyperammonaemia, leading to moderate to severe mental retardation and spasticity. at least two isozymes of arginase exist in man. AI (the enzyme deficient in the disorder) is cytosolic and found primarily in liver and red blood cells, whereas AII is mitochondrial and found predominantly in kidney but also to a lesser extent in liver, brain, and other tissues. While AII activity appears to be induced in AI deficiency, it is only partially effective in maintaining urea cycle function. The normal in vivo function of AII is unclear. Arginase deficiency is diagnosed by observing high arginine concentrations on either qualitative or quantitative plasma or urine amino acid analysis. The diagnosis is confirmed by finding markedly decreased or absent arginase activity in an isotopic red blood cell enzymatic assay. The AI gene has been cloned, sequenced, and localised to human chromosome band 6q23. (17 Dec 1997) |
|---|---|
| ascorbic acid deficiency | A condition due to a dietary deficiency of ascorbic acid (vitamin c), characterised by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of haemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (cecil textbook of medicine, 19th ed, p1177) (12 Dec 1998) |
| beta-d-glucuronidase deficiency | A rare deficiency of beta-d-glucuronidase; an autosomal recessive disorder with several allelic forms, characterised by abnormal mucopolysaccharide metabolism leading to progressive mental deterioration, splenic and hepatic enlargement, and dysostosis multiplex. Synonym: mucopolysaccharidase. (05 Mar 2000) |
| brancher deficiency glycogenosis | Type of glycogen storage disease, due to deficiency of amylo-1,4-1,6-transglucosidase (brancher enzyme). Synonym: brancher deficiency glycogenosis, debrancher deficiency. (05 Mar 2000) |
| calcium deficiency | A low blood calcium (hypocalcaemia) makes the nervous system highly irritable with tetany (spasms of the hands and feet, muscle cramps, abdominal cramps, overly active reflexes, etc.). Chronic calcium deficiency contributes to poor mineralization of bones, soft bones (osteomalacia) and osteoporosis; and, in children, rickets and impaired growth. Food sources of calcium include dairy foods, some leafy green vegetables such as broccoli and collards, canned salmon, clams, oysters, calcium-fortified foods, and tofu. According to the National Academy of Sciences, adequate intake of calcium is 1 gram daily for both men and women. The upper limit for calcium intake is 2.5 grams daily. (12 Dec 1998) |
| carbamoylphosphate synthetase deficiency | <biochemistry> Carbamoylphosphate synthetase is the initial enzyme of the urea cycle, catalysing the synthesis of carbamoylphosphate from ammonia, bicarbonate and ATP as the first step of ammonia detoxification. The enzyme is an intramitochondrial form called CPS I. A different isozyme found in the cytoplasm, called CPS II, is much less active and apparently not involved in the urea cycle. The deficiency state is autosomal recessive and presents in infancy with massive hyperammonaemia and neurologic deficits in survivors. Diagnosis is suggested by the blood biochemistry and confirmed by specific enzyme assay on liver or rectal biopsy. Prenatal diagnosis by molecular methods has been used successfully in informative families. Inheritance: autosomal recessive. (07 Apr 1998) |
| carbonic anhydrase II deficiency syndrome | <syndrome> An inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis. Synonym: osteopetrosis with renal tubular acidosis. (05 Mar 2000) |
| g-6-p-d deficiency | <biochemistry> An inherited condition that results in a deficiency in glucose-6-phosphate dehydrogenase. Particular drugs (sulphonamides) can exacerbate this problem. The result is haemolytic anaemia. (27 Sep 1997) |
| galactokinase deficiency | An inborn error of metabolism due to congenital deficiency of galactokinase, resulting in increased blood galactose concentration (galactosaemia), cataracts, hepatomegaly, and mental deficiency; autosomal recessive inheritance. Galactose epimerase deficiency and galactose-1-phosphate uridyl transferase deficiency produce much the same clinical picture. (05 Mar 2000) |
| galactokinase deficiency galactosaemia | An autosomal recessive disorder resulting in an accumulation of galactose and galactitol. (05 Mar 2000) |
| magnesium deficiency | Can occur due to inadequate intake or impaired intestinal absorption of magnesium. Low magnesium (hypomagnesaemia) is often associated with low calcium (hypocalcaemia) and low potassium (hypokalaemia). Deficiency of magnesium causes increased irritability of the nervous system with tetany (spasms of the hands and feet, muscular twitching and cramps, spasm of the larynx, etc.). According to the national academy of sciences, the recommended dietary allowances of magnesium are 420 milligrams per day for men and 320 milligrams per day for women. The upper limit of magnesium as supplements is 350 milligrams daily, in addition to the magnesium from food and water. (12 Dec 1998) |
| glucocerebrosidase deficiency | Causes Gaucher's disease (type 1), a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect in persons with Gaucher's disease (GD) leads to the accumulation of glucocerebroside in the spleen, liver, and lymph nodes. The most common early sign is enlargement of the spleen (located in the upper left abdomen). Other signs include low red blood cell counts (anaemia), a decrease in blood clotting cells (platelets), increased pigmentation of the skin, and a yellow fatty spot on the white of the eye (a pinguecula). Severe bone involvement can lead to pain and collapse of the bone of the hips, shoulders, and spine. The GD gene is on chromosome 1. The disease is a recessive trait. Both parents carry a GD gene and transmit it for their child with the disease. The parents' risk of a child with the disease is 1 in 4 with each pregnancy. This type of Gaucher's disease (noncerebral juvenile Gaucher's disease) is most common in Ashkenazi Jews (of European origin) and is the most common genetic disease among Jews in the United States. (12 Dec 1998) |
| vitamin a deficiency | A nutritional condition produced by a deficiency of vitamin a in the diet, characterised by night blindness and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (xerophthalmia). Vitamin a deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin a-rich foods. In the united states it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (12 Dec 1998) |
| vitamin B12 deficiency | A form of anaemia (low red blood cell counts) that results when the bone marrow fails to produce adequate numbers of red blood cells due to a deficiency in vitamin B12. Intrinsic factor, necessary for normal B12 absorption, may be the underlying cause for B12 deficiency if is not produced in the gastric glands (in the stomach). (27 Sep 1997) |
| vitamin b 12 deficiency | A nutritional condition produced by a deficiency of vitamin b 12 in the diet, characterised by megaloblastic anaemia. Since vitamin b 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin b 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (12 Dec 1998) |