| 영문 | septal defects of heart | 한글 | 심장의 중격 결손 |
|---|---|---|---|
| 설명 | 선천적으로 심장 내의 심방사이중격(interatrial septum)이나 심실사이중격(interventricular septum)이 결손되어 혈류가 정상적으로 흐르지 않는 경우. 정상적인 경우 혈류는 정맥에서 우심방으로 모여 우심실을 거친뒤 폐로 가서 산소를 공급받고 다시 왼심방, 왼심실을 차례로 거쳐 대동맥으로 간다. 하지만, 이 경우는 혈류가 압력이 높은 왼심방이나 왼심실에서 압력이 낮은 우심방이나 우심실로 흐르게 된다. 따라서 동맥피와 정맥피가 섞이게 되고, 환자는 호흡곤란, 성장발육장애, 심잡음 등이 나타나고, 심한 경우 청색증으로 발전하기도 한다. 치료는 수술적으로 이 결손부위를 막아 주어야 한다. |
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| PHAVER | pterygia-heart defects-autosomal recessive inheritance-vertebral defects-ear anomalies-radial defect... |
|---|---|
| HELLP | hemolysis, elevated liver enzymes, and low platelet count [syndrome] |
| LAL | left axillary line; Limulus amebocyte lysate; low air loss; lysosomal acid lipase |
| Bmod | behavior modification |
| CM | California mastitis [test]; calmodulin; capreomycin; carboxymethyl; cardiac murmur; cardiac muscle; ... |
| LAL | Lysosomal acid lipase |
|---|---|
| LAP | Lysosomal acid phosphatase |
| LSD | Lysosomal storage diseases |
| ML | mitochondrial lysosomal |
| CYPs | Cytochrome P450 enzymes |
| DNA restriction-modification enzymes | Systems consisting of two enzymes, a modification methylase and a restriction endonuclease. They are closely related in their specificity and protect the DNA of a given bacterial species. The methylase adds methyl groups to adenine or cytosine residues in the same target sequence that constitutes the restriction enzyme binding site. The methylation renders the target site resistant to restriction, thereby protecting DNA against cleavage. (12 Dec 1998) |
|---|---|
| posttranslational | Referring to events that occur after translation. (05 Mar 2000) |
| inborn lysosomal disease | Inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler's syndrome or a lipopolysaccharide as in Gaucher's disease. (05 Mar 2000) |
| UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase | <enzyme> Fibroblasts from patients with i-cell (mucolipidosis II) and pseudo-hurler polydystrophy (mucolipidosis III) are deficient in above enzyme; for n-acetylglucosamine transferred to dolichyl phosphate see EC 2.7.8.15 Registry number: EC 2.7.8.17 Synonym: udpgnac gp gnac phosphotransferase, udpgnac phosphotransferase, uridine 5'-diphosphate-n-acetylglucosamine glycoprotein n-acetylglucosaminylphosphotransferase, n-acetylglucosamine-1-phosphotransferase, n-agapt, udp-n-acetylglucosamine-lysosomal glycoprotein n-acetylglucosaminylphosphotransferase, udp-acetylglucosamine-glycoprotein n-acetylglucosamine-1-phosphotransferase (26 Jun 1999) |
| UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase | <enzyme> An enzyme that participates in the posttranslational modification of a number of lysosomal proteins; a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy. (05 Mar 2000) |
| lysosomal disease | A disease due to inadequate functioning of a lysosomal enzyme; most such disease's are associated with a storage disease. (05 Mar 2000) |
| lysosomal diseases | Diseases (also called storage diseases) in which a deficiency of a particular lysosomal enzyme leads to accumulation of the undigested substrate for that enzyme within cells. Not immediately fatal, but within a few years lead to serious neurological and skeletal disorders and eventually to death. See: the following conditions: Hurler sundrome, Hunter syndrome, San Fillipo, Gaucher's disease, Niemann-Pick, Pompe's disease, Tay Sachs disease. (18 Nov 1997) |
| lysosomal enzyme | <biochemistry> A range of degradative enzymes, most of which operate best at acid pH. The best known marker enzymes are acid phosphatase and glucuronidase, but many others are known. (18 Nov 1997) |
| lysosomal storage diseases | Inborn errors of metabolism characterised by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolised substrates. (12 Dec 1998) |
| gastric filling defects | <radiology> Malignant tumours, carcinoma, lymphoma, leiomyosarcoma, metastases, benign, leiomyoma, lipoma, neurofibroma, polyp, hyperplastic, adenomatous, hamartomatous, others, bezoar, Nissen fundoplication, ectopic pancreas (12 Dec 1998) |
| midline closure defects | <radiology> Anencephaly, encephalocele, 70% occipital, 20% parietal or frontal, 10% basal, agenesis of corpus callosum associated with increased alpha-fetoprotein. (12 Dec 1998) |
| modification | 1. A nonhereditary change in an organism; e.g., one that is acquired from its own activity or environment. 2. A chemical or structural alteration in a molecule. Behaviour modification, the systematic use of principles of conditioning and learning, especially operant or instrumental conditioning, to teach certain skills or to extinguish undesirable behaviours, attitudes, or phobias. Chemical modification, alteration in the structure of a molecule, typically a macromolecule such as a protein, by chemical means; often, the covalent addition by some reagent. Covalent modification, alteration in the structure of a macromolecule by enzymatic means, resulting in a change in the properties of that macromolecule; frequently, this type of modification is physiologically relevant. (05 Mar 2000) |
| modification enzyme | <enzyme, molecular biology> An enzyme that introduces minor bases into DNA or RNA or that alters bases already incorporated. Serves to alter the sequence so that restriction enzymes will not damage the strand. (18 Nov 1997) |
| colour vision defects | Mild to severe impairment in the ability to discriminate or differentiate hues. This disorder may be acquired as a result of diseases of the cones or x chromosome-linked where there is an abnormality but not a complete absence of one of the cone pigments. (12 Dec 1998) |
| post-translational modification | The enzymatic processing of a polypeptide chain after translation from messenger RNA and after peptide bond formation has occurred. Examples include glycosylation, acylation, limited proteolysis, phosphorylation, isoprenylation. (10 Oct 1997) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|