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糖原累积病二例报告
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作者 卢义生 王庆苏 《赣南医学院学报》 1989年第Z1期45-46,共2页
例1,死婴,女。足月,胎儿宫内窒息,娩出后全身苍白,抢救无效。尸解见肝脏于肋下4.9cm,剑下5.8cm,肝脏明显曾大,左叶4.8×1.9×2.0cm,右叶7.9×7.3×3.7cm,肝重146g.表面光滑,呈淡紫红略带黄色,切面性状如表面,边缘钝园,... 例1,死婴,女。足月,胎儿宫内窒息,娩出后全身苍白,抢救无效。尸解见肝脏于肋下4.9cm,剑下5.8cm,肝脏明显曾大,左叶4.8×1.9×2.0cm,右叶7.9×7.3×3.7cm,肝重146g.表面光滑,呈淡紫红略带黄色,切面性状如表面,边缘钝园,质软。心脏体积大于死婴右拳。盆腔检查,双子宫。镜检:肝细胞弥漫肿大,胞浆空亮,胞核相对变小,状如植物细胞,PAS染色呈阳性反应。心肌纤维弥漫肿胀,变大变宽,胞核多数靠肌浆边缘,横断面之心肌细胞似脂肪细胞,PAS呈阳性反应。病理诊断:第Ⅱ型糖原累积病(Pompe病)。肝、心肌受累。双子宫畸形。 展开更多
关键词 糖原病2 糖原1 萄糖磷酸酶缺乏
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Association of C(-106)T Polymorphism in Aldose Reductase Gene with Diabetic Retinopathy in Chinese Patients with Type 2 Diabetes Mellitus 被引量:4
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作者 Yu Deng Xiu-fen Yang +6 位作者 Hong Gu Apiradee Lim Munkhtulga Ulziibat Torkel Snellingen Jun Xu Kai Ma Ning-pu Liu 《Chinese Medical Sciences Journal》 CAS CSCD 2014年第1期1-6,共6页
Objective To identify the possible association between C(-106)T polymorphism of the aldose reductase (ALR) gene and diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM... Objective To identify the possible association between C(-106)T polymorphism of the aldose reductase (ALR) gene and diabetic retinopathy (DR) in a cohort of Chinese patients with type 2 diabetes mellitus (T2DM). Methods From November 2009 to September 2010, patients with T2DM were recruited and assigned to DR group or diabetic without retinopathy (DWR) group according to the duration of diabetes and the grading of 7-field fundus color photographs of both eyes. Genotypes of the C(-106)T polymorphism (rs759853) in ALR gene were analyzed using the MassARRAY genotyping system and an association study was performed. Results A total of 268 T2DM patients (129 in the DR group and 139 in the DWR group) were included in this study. No statistically significant differences were observed between the 2 groups in the age of diabetes onset (P=0.10) and gender (P=0.78). The success rate of genotyping for the study subjects was 99.6% (267/268), with one case of failure in the DR group. The frequencies of the T allele in the C(-106)T polymorphism were 16.0% (41/256) in the DR group and 19.4% (54/278) in the DWR group (P=0.36). There was no signit^cant difference in the C(-106)T genotypes between the 2 groups (P=0.40). Compared with the wild-type genotype, odds ratio (OR) for the risk of DR was 0.7 (95% CI, 0.38-1.3) for the heterozygous CT genotype and 0.76 (95% CI, 0.18-3.25) for the homozygous TT genotype. The risk of DR was positively associated with microalbuminuria (OR=4.61; 95% CI, 2.34-9.05) and insulin therapy (OR=3.43; 95% CI, 1.94-6.09). Conclusions Microalbuminuria and insulin therapy are associated with the risk of DR in Chinese patients with T2DM. C(-106)T polymorphism of the ALR gene may not be significantly associated with DR in Chinese patients with T2DM. 展开更多
关键词 diabetic retinopathy aldose reductase gene single nucleotide polymorphism
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CTLA-4 gene A/G polymorphism associated with diabetes mellitus in Han Chinese 被引量:1
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作者 马芸 汤旭磊 +3 位作者 常薇 高林 李茂欣 严文伟 《Chinese Medical Journal》 SCIE CAS CSCD 2002年第8期1248-1250,157-158,共3页
OBJECTIVE: To investigate the association of cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene A/G polymorphism with susceptibility to diabetes mellitus in Han Chinese. METHODS: An A/G transition at position 4... OBJECTIVE: To investigate the association of cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) gene A/G polymorphism with susceptibility to diabetes mellitus in Han Chinese. METHODS: An A/G transition at position 49 of exon 1 was analyzed in 31 patients with type 1 diabetes, 31 patients with type 2 diabetes, and 36 controls were analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: A highly significant increase in the frequency of the G allele was seen in patients with type 1 diabetes compared with controls (66.1 % vs. 34.7%, respectively; P 展开更多
关键词 IMMUNOCONJUGATES Polymorphism Genetic Antigens Differentiation China Diabetes Mellitus Humans
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