| ¿µ¹® | asphycitic syndrome | ÇÑ±Û | Áú½ÄÁõÈıº |
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| ¿µ¹® | nephrotic syndrome | ÇÑ±Û | ÄáÆÏÁõÈıº |
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| ¿µ¹® | Cushing's syndrome | ÇÑ±Û | Äí½ÌÁõÈıº |
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| ¿µ¹® | Klinefelter syndrome | ÇÑ±Û | Ŭ¶óÀÎÆçÅÍÁõÈıº |
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| ¼³¸í | 1942³â H.F. Ŭ¶óÀÎÆçÅͰ¡ ±âÀçÇÑ ¼º¿°»öüÀÌ»óÁõÈıº. Á¤»óÀÎÀÇ ¼º¿°»öüÇüÀº ³²¼º XY, ¿©¼º XX¸¦ ³ªÅ¸³»Áö¸¸, ÀÌ ÁõÈıº¿¡¼´Â ¼º¿°»öüÇüÀÌ XXY. XXYY, XXXXY µîÀÇ ¿©·¯ °¡Áö ÀÌ»óÇÑ ÇüŸ¦ ³ªÅ¸³½´Ù. ¿Ü¼º±â-ü°Ý-¼ºÂ¡ µîÀÇ Æ¯Â¡ÀûÀÎ Áõ¼¼·Î º¼ ¶§¿¡ ¿ÏÀüÇÑ ³²¼ºÀÌ °áÈ¥ÇÏ¿© ¼º»ýȰ±îÁö ÇÏ¿´À¸³ª, ÀÚ½ÄÀÌ ¾øÀÚ ºÎºÎ°¡ ÇÔ²² º´¿øÀ» ã¾Æ°¡¼ ¿°»öü¸¦ °Ë»çÇØ º¸°í ³²ÀÚ¿¡°Ô ÀÌ ÁõÈıºÀÌ ÀÖÀ½À» ¾Ë°Ô µÇ´Â °æ¿ì°¡ ¸¹´Ù. ÀÌ ¹Û¿¡ ¼ºÀÎÀÌ µÇ¾î ³ªÅ¸³ª´Â ÁÖ¿ä Áõ¼¼¸¦ µé¸é, ÀÛÀº°íȯ, ¿©¼ºÇü À¯¹æÁõ, ¹«Á¤ÀÚÁõ, ºÒÀÓ, ¿äÁß °í³ªµµÆ®·ÎÇÉÀÇ »ó½Â, Áö´É ÀúÇÏ µîÀÌ´Ù. Ä¡·á´Â 2Â÷ ¼ºÂ¡ÀÇ ÃËÁøÀ» À§ÇÏ¿© È£¸£¸ó¿ä¹ý¿¡ ÀÇÇÑ ³²¼ºÈ¸¦ ½ÃµµÇÑ´Ù. |
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| ¿µ¹® | fetal alcohol syndrome | ÇÑ±Û | žƾËÄÚ¿ÃÁõÈıº |
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| ¼³¸í | ÀӽűⰣ Áß ¸¸¼ºÀûÀ¸·Î ¾ËÄÚ¿ÃÀ» ¼·ÃëÇÑ ¿©ÀÚ¿¡°Ô¼ ÅÂ¾î³ ¿µ¾Æ¿¡°Ô ³ªÅ¸³ª´Â ÇüŹ߻ýÀÇ ÀÌ»óÀ» ³ªÅ¸³»´Â ÁõÈıºÀ¸·Î¼ À§ÅλÀ¹ßÀ°ºÎÀü, ¾Õ¸Ó¸®¿Í ¾Æ·¡ÅÎÀÇ µ¹Ãâ, ªÀº°Ë¿, ÀÛÀº¾È±¸Áõ, ´«±¸¼®ÁÖ¸§, ½ÉÇÑ ¼ºÀåÁö¿¬, Á¤½ÅÁöü µîÀ» ³ªÅ¸³½´Ù. |
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| SW | seriously wounded; short waves; sinewave; slow wave; soap and water; social worker; spike wave; spir... |
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| WDHA Syndrome | Watery Diarrhea, Hypokalemia, Achlorhydria Syndrome = Pancreatic Cholera (Syndrome)<... |
| HS | Haber syndrome; half strength; hamstring; hand surgery; Hartmann solution; head sling; healthy subje... |
| KS | Kallmann syndrome; Kaposi sarcoma; Kartagener syndrome; Kawasaki syndrome; keratan sulfate; ketoster... |
| RS | radioscaphoid; random sample; rating schedule; Raynaud syndrome; recipient's serum; rectal sinus; re... |
| hereditary cerebellar ataxia | A disease of later childhood and early adult life, marked by ataxic gait, hesitating and explosive speech, nystagmus, and sometimes optic neuritis. It probably comprises several distinct conditions with diverse patterns of inheritance. Collective term for a number of hereditary disorders in which cerebellar signs are the most prominent finding. (05 Mar 2000) |
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| nutritional type cerebellar atrophy | A restricted type of cerebellar cortical degeneration, affecting particularly the Purkinje cells of the anterior and superior vermis; probably caused by thiamin deficiency; most frequently seen in chronic alcoholics and then called alcoholic cerebellar degeneration. (05 Mar 2000) |
| superior cerebellar artery | <anatomy, artery> Origin, basilar; distribution, upper surface of cerebellum, colliculi, and most of the cerebellar nuclei; anastomoses, posterior inferior cerebellar. Synonym: arteria cerebelli superior. (05 Mar 2000) |
| superior cerebellar peduncle | A large bundle of nerve fibres that originate from the dentate and interpositus nuclei and emerges from the cerebellum in the rostral direction, along the lateral wall of the fourth ventricle. The bundle submerges from the dorsal surface of the brainstem into the mesencephalic tegmentum, where all of its fibres cross in the massive decussation of the superior cerebellar peduncles. Part of the bundle terminates in the contralateral red nucleus; the bulk of the fibres continue rostrally to parts of the ventral intermediate nucleus of thalamus, ventral posterolateral nucleus of thalamus, and central lateral nucleus of thalamus. Synonym: pedunculus cerebellaris superior, brachium conjunctivum cerebelli. (05 Mar 2000) |
| superior surface of cerebellar hemisphere | It lies against the under surface of the tentorium and includes the ala lobuli centralis, quadrangular lobule, simple lobule, and superior semilunar lobule. Synonym: facies superior hemispherii cerebelli. (05 Mar 2000) |
| superior veins of cerebellar hemisphere | Several veins draining the superior part of the cerebellar hemispheres; they terminate in the superior petrosal sinus or the petrosal vein. Synonym: venae hemispherii cerebelli superiores. (05 Mar 2000) |
| decussation of superior cerebellar peduncles | The decussation of the left and right superior cerebellar peduncles in the tegmentum of the caudal mesencephalon. Synonym: decussatio pedunculorum cerebellarium superiorum, decussatio brachii conjunctivi, decussation of brachia conjunctiva, Wernekinck's decussation. (05 Mar 2000) |
| dentatorubral cerebellar atrophy with polymyoclonus | A familial disorder beginning in late childhood, characterised by progressive cerebellar ataxia, action myoclonus and preserved intellect. Probably due to multiple causes, mitochondrial abnormalities being one. Synonym: dentatorubral cerebellar atrophy with polymyoclonus. (05 Mar 2000) |
| inferior cerebellar peduncle | Large paired bundles of nerve fibres which develop on the dorsolateral surfaces of the upper medulla, extend under the lateral recesses of the rhomboid fossa and curve dorsally into the cerebellum medial to the middle cerebellar peduncle; composed of a larger (lateral) bundle, the restiform body, and a small (medial) bundle, the juxtarestiform body. Fibres forming this composite bundle originate from spinal neurons and medullary relay nuclei. The largest constituent (restiform body) is crossed fibres from the inferior olive; it also contains the dorsal spinocerebellar tract and cerebellar projections from the lateral reticular nucleus, the accessory cuneate nucleus, the paramedian reticular nuclei and the perihypoglossal nuclei. Vestibulocerebellar fibres are placed medially in the inferior cerebellar peduncle and are usually separately identified as the juxtarestiform body. Synonym: pedunculus cerebellaris inferior. (05 Mar 2000) |
| inferior surface of cerebellar hemisphere | It rests in the posterior cranial fossa and overlies the medulla; it includes the semilunaris inferior, biventer lobule, cerebellar tonsil, and flocculus. Synonym: facies inferior hemispherii cerebelli. (05 Mar 2000) |
| inferior veins of cerebellar hemisphere | Several veins draining the inferior portion of the cerebellar hemispheres; they terminate in the petrosal vein. Synonym: venae hemispherii cerebelli inferiores. (05 Mar 2000) |
| juvenile cerebellar astrocytoma | <oncology, tumour> This primary brain tumour of the cerebellum accounts for 10 to 30% of brain tumours in children. The are usually slow growing and benign. Symptoms include gait problems, clumsiness, headache and vomiting. Treatment often involves a combination of surgery, radiation therapy and chemotherapy. (27 Sep 1997) |
| layers of cerebellar cortex | The thin gray surface layer of the cerebellum, consisting of an outer molecular layer or stratum moleculare, a single layer of Purkinje cells (the ganglionic layer), and an inner granular layer or stratum granulosum. Synonym: cortex cerebelli. (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) |
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