| 영문 | respiratory distress syndrome(RDS) | 한글 | 호흡곤란증후군 |
|---|---|---|---|
| 설명 | 폐포와 폐모세혈관 사이에 부종으로 인한 확산능 감소로 호흡곤란과 청색증을 보이는 상태로 감염, 수술, 외상 등 모든 종류의 스트레스상황에서 발생할 수 있다. 치료는 선행 요인의 교정과 적절한 혈액내 산소농도 유지이다. |
||
| 영문 | acquired immunodeficiency syndrome | 한글 | 후천면역결핍증후군, 에이즈 |
|---|---|---|---|
| 설명 | 인간면역결핍바이러스(HIV)에 의하여 면역 세포가 파괴됨으로써 인체의 면역능력이 극도로 저하되어 병원체에 대하여 무방비 상태에 이르는 병. 에이즈 바이러스의 감염으로 생기며, 1981년 미국에서 처음 보고되었다. 최초 감염으로부터 증상이 나타나기까지는 평균 10년 정도 걸리며 사망률이 대단히 높다. 성적 접촉, 오염 주사기 사용, 오염 혈액 및 혈액 제제 사용, 에이즈 산모로부터 수직감염 따위에 의하여 감염된다. 감염 후 일과성으로 감기와 같은 증상을 보이며 바이러스혈증으로 되지만 바이러스는 감소되고 6~8주 후에는 항체가 양성으로 된다. 6~10년 정도의 무증후성 보균기간을 지나서 에이즈관련증후군(AIDS related syndrome)으로 된다. 저항력의 감소, 림프절비대, 체중감소, 발열, 만성설사가 이어진다. 그 후 에이즈로 되며, 폐포자충폐렴 등의 원충병, 칸디다 등의 진균증, 헤르페스바이러스군 등의 기회감염이 이어진다. 또한 카포시육종, 림프종 등을 병발해서 사망한다. 바이러스의 뇌조직내 증식으로 치매를 일으킬 수도 있다. HIV-1은 10년간에 사망률이 90%, HIV-2는 10%이다. |
||
| RS | radioscaphoid; random sample; rating schedule; Raynaud syndrome; recipient's serum; rectal sinus; re... |
|---|---|
| ASLN | Alport syndrome-like hereditary nephritis |
| HHHH | hereditary hemihypotrophy-hemiparesis-hemiathetosis [syndrome] |
| HOODS | hereditary onycho-osteodysplasia syndrome |
| MGPS | hereditary giant platelet syndrome |
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
|---|---|
| telangiectasia, hereditary haemorrhagic | An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (12 Dec 1998) |
| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |
| exostoses, multiple hereditary | Hereditary disorder transmitted by an autosomal dominant gene and characterised by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. (12 Dec 1998) |
| eye diseases, hereditary | Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. (12 Dec 1998) |
| Leber's hereditary optic atrophy | Hereditary degeneration of the optic nerve and papillomacular bundle with resulting rapid loss of central vision, progressive for several weeks, then usually stationary with permanent central scotoma; age of onset is variable, most often in the third decade; more males than females are affected and transmission is cytoplasmic and strictly on the female side. Mutation on the mitochondrial chromosome involved, which presumably interacts with an X-linked mutant. This mechanism may explain the bizarre sex ratio, which differs significantly from one country to another. (05 Mar 2000) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| abstinence syndrome | <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body. (05 Mar 2000) |
| Achard syndrome | <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear. (05 Mar 2000) |
| Achard-Thiers syndrome | <syndrome> One form of a virilizing disorder of adrenocortical origin in women, characterised by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria. (05 Mar 2000) |
| Achenbach syndrome | <syndrome> Haematoma of the finger pad with accompanying oedema; of unknown cause in the absence of disturbances in blood coagulation mechanisms. (05 Mar 2000) |
| achoo syndrome | <syndrome> A disorder characterised by nearly uncontrollable paroxysms of sneezing provoked in a reflex fashion by the sudden exposure of a dark-adapted subject to intensely bright light, usually sunlight. Inheritance: autosomal dominant. (05 Aug 1998) |
| Acquired Immunodeficiency Syndrome | <immunology, syndrome> An epidemic disease caused by an infection by human immunodeficiency virus (HIV-1, HIV-2), a retrovirus that causes immune system failure and debilitation and is often accompanied by infections such as tuberculosis. AIDS is spread through direct contact with bodily fluids. Acronym: AIDS (10 May 1997) |