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상염색체 우성유전 거대혈소판증후군 가족의 임상적 특징과 MYH9 유전자의 돌연변이에 관한 연구
국훈,국현,황태주,남호송,백희조,김영옥,엄광현,기해진,조덕,신명근,이제중,김형준 대한혈액학회 2006 Blood Research Vol.41 No.1
Purpose: The autosomal dominant macrothrombocytopenia syndromes are a group of rare disorders, characterized by triads of giant platelets, thrombocytopenia, and Dohle body-like leukocyte inclusions. MYH9, a gene encoding the nonmuscle myosin heavy chain-ⅡA, was known to be a causative gene. This study was aimed to identify Korean patients with giant platelet syndromes and define clinical findings and molecular characteristics on them. Materials and Methods: After taking meticulous family history, peripheral blood smear was examined for platelet size and number, and the presence of leukocyte inclusions. Mutation of MYH9 was studied from mononuclear cells from peripheral blood by direct sequencing of previously known 8 exons (exon 1, 10, 16, 25, 26, 30, 38, 40) after PCR amplification of genomic DNA. Results: Twenty patients with these syndromes from 5 unrelated families were identified (4 of 5 studied from Family Ⅰ; 2 of 4 from Family Ⅱ; 6 of 9 from Family Ⅲ; 6 of 14 from Family IV; 2 of 4 from Family V). The inheritance patterns were autosomal dominant in all families. Giant platelets, greater than red cells on blood smear, were found to be 3.1% (range, 1-11%), and large platelets, greater than half of red cells, being 18.1% (range, 1-40%). The median platelet count was 61,000/μL (range, 4,000 - 280,000/μL). Do¨hle-like inclusion bodies were found in Family Ⅰ, Ⅱ, and Ⅲ. Father in Family V had suffered from chronic renal failure and hearing impairment, while father in Family IV had hearing impairment and proteinuria. Among five families, two families were found to have previously reported mutations. Family I had Arg1933Ter in exon 40, located in tail portion of myosin, while Family IV had Lys373Asn in exon 10, located in the proximal portion of myosin head. The mutations were placed in highly conserved amino acids in mammals and xenopus, and even in human paralog. The mutations are found only in the affected patients, but not in the normal siblings or unrelated families. Conclusion: In this study, the author identified several families with autosomal dominant giant platelet syndromes by through history taking and meticulous search of peripheral blood smears. Two families were identified to have known MYH9 mutations, Arg1933Ter and Lys373Asn. Search for unknown mutations in the remaining families as well as study of protein structural and functional alteration seems to be necessary for the further delineation of these rare genetic disorders.
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한정탁,김명준,문설희,전유림,황재식,남춘자,박종우,이선호,나재범,박찬성,박희원,이정민,장호송,박선희,한경구,최영환,이혜영,강종구 한국독성학회 2015 Toxicological Research Vol.31 No.4
Lithospermum erythrorhizon has long been used as a traditional oriental medicine. In this study, the acute and 28-day subacute oral dose toxicity studies of hexane extracts of the roots of L. erythrorhizon (LEH) were performed in Sprague-Dawley rats. In the acute toxicity study, LEH was administered once orally to 5 male and 5 female rats at dose levels of 500, 1,000, and 2,000 mg/kg. Mortality, clinical signs, and body weight changes were monitored for 14 days. Salivation, soft stool, soiled perineal region, compound-colored stool, chromaturia and a decrease in body weight were observed in the extract-treated groups, and no deaths occurred during the study. Therefore, the approximate lethal dose (ALD) of LEH in male and female rats was higher than 2,000 mg/kg. In the subacute toxicity study, LEH was administered orally to male and female rats for 28 days at dose levels of 25, 100, and 400 mg/kg/day. There was no LEH-related toxic effect in the body weight, food consumption, ophthalmology, hematology, clinical chemistry and organ weights. Compound-colored (black) stool, chromaturia and increased protein, ketone bodies, bilirubin and occult blood in urine were observed in the male and female rats treated with the test substance. In addition, the necropsy revealed dark red discoloration of the kidneys, and the histopathological examination showed presence of red brown pigment or increased hyaline droplets in the renal tubules of the renal cortex. However, there were no test substance-related toxic effects in the hematology and clinical chemistry, and no morphological changes were observed in the histopathological examination of the kidneys. Therefore, it was determined that there was no significant toxicity because the changes observed were caused by the intrinsic color of the test substance. These results suggest that the no-observed-adverseeffect Level (NOAEL) of LEH is greater than 400 mg/kg/day in both sexes.
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