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Gilbert氏病2例报道及相关的肝硬化2例分析
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作者 薛觉民 薛庆云 《山西医学教育》 2004年第1期51-52,共2页
Gilbert氏病是Gilbert氏于1901年首先报道的,他对该病的定义:①非溶血性;②除非结合型胆红素升高外其他肝功能均正常;③肝组织学正常。本病是一种罕见的遗传性疾病,系遗传性或获得性β-UDP-GT(胆红素-尿苷双磷酸葡萄糖醛酰转移酶)... Gilbert氏病是Gilbert氏于1901年首先报道的,他对该病的定义:①非溶血性;②除非结合型胆红素升高外其他肝功能均正常;③肝组织学正常。本病是一种罕见的遗传性疾病,系遗传性或获得性β-UDP-GT(胆红素-尿苷双磷酸葡萄糖醛酰转移酶)生成有轻度缺陷或活性减少所致,临床上以疲乏、轻度黄疸。 展开更多
关键词 Gilbert氏病 肝硬化 溃传性疾病 临床表现 实验室检查 药物治疗
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Muir-Torre综合征中发生在眼睑的皮脂腺瘤
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作者 Arun D. +15 位作者 Singh Hardeep Singh Mudhar MB BChir Ronnie Bhola Paul A. Rundle Ian G. Rennie 李学民(译) 雷嘉启(校) 《美国医学会眼科杂志(中文版)》 2005年第4期225-228,共4页
Muir-Torre综合征是以不常见的皮肤肿瘤和内脏恶性肿瘤为发病特征的一种少见的癌性综合征。Muir-Torte综合征中发生在眼睑皮肤肿瘤主要包括皮脂腺肿瘤(包括皮脂腺腺瘤和皮脂腺肉瘤)、角化棘皮瘤和基底细胞癌。Muir-Torre综合征中发生... Muir-Torre综合征是以不常见的皮肤肿瘤和内脏恶性肿瘤为发病特征的一种少见的癌性综合征。Muir-Torte综合征中发生在眼睑皮肤肿瘤主要包括皮脂腺肿瘤(包括皮脂腺腺瘤和皮脂腺肉瘤)、角化棘皮瘤和基底细胞癌。Muir-Torre综合征中发生的内脏恶性肿瘤最常见的是结肠、直肠和生殖泌尿系统肿瘤。虽然Muir-Torte综合征是由于染色体异常导致的溃传性疾病. 展开更多
关键词 Muir-Torre综合征 皮脂腺瘤 眼睑 生殖泌尿系统肿瘤 内脏恶肿瘤 基底细胞癌 皮肤肿瘤 皮脂腺肿瘤 角化棘皮瘤 溃传性疾病
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Family and twin studies in inflammatory bowel disease 被引量:12
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作者 Leena Halme Paulina Paavola-Sakki +3 位作者 Ulla Turunen Maarit Lappalainen Martti Frkkil Kimmo Kontula 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第23期3668-3672,共5页
Studies examining the inheritance of inflammatory bowel disease (IBD) within different family groups have been the basis for recent molecular advances in the genetics of IBD. The derived heritability in Crohn's dis... Studies examining the inheritance of inflammatory bowel disease (IBD) within different family groups have been the basis for recent molecular advances in the genetics of IBD. The derived heritability in Crohn's disease (CD) is higher than in many other complex diseases. The risk of IBD is highest in first-degree relatives of a CD proband, but first-degree relatives of a proband suffering from ulcerative colitis (UC) and more distant relatives are also at increased risk. Disease concordance rates in IBD have been examined in multiplex families and in three large European twin studies. 展开更多
关键词 Crohn's disease Family studies GENETICS Twin studies Ulcerative colitis
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Genetic alterations in benign lesions:Chronic gastritis and gastric ulcer 被引量:6
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作者 AnaCristinaGobboCésar MaríliadeFreitasCalmon +4 位作者 AnaElizabeteSilva PatríciaMalufCury AlaorCaetano AldenisAlbanezeBorim FAMERP 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第4期625-629,共5页
AIM: To investigate the occurrence of chromosome 3, 7, 8, 9, and 17 aneuploidies, TPS3 gene deletion and p53 protein expression in chronic gastritis, atrophic gastritis and gastric ulcer, and their association with H... AIM: To investigate the occurrence of chromosome 3, 7, 8, 9, and 17 aneuploidies, TPS3 gene deletion and p53 protein expression in chronic gastritis, atrophic gastritis and gastric ulcer, and their association with H pylori infection. METHODS: Gastric biopsies from normal mucosa (NM, n = 10), chronic gastritis (CG, n = 38), atrophic gastritis (CAG, n=13) and gastric ulcer (GU, n=21) were studied using fluorescence in situ hybridization (FISH) and immunohistochemical assay. A modified Giemsa staining technique and PCR were used to detect Hpylori. An association of the gastric pathologies and aneuploidies with Hpylori infection was assessed. RESULTS: Aneuploidies were increasingly found from CG (21%) to CAG (31%) and to GU (62%), involving mainly monosomy and trisomy 7, trisomies 7 and 8, and trisomies 7, 8 and 17, respectively. A significant association was found between H pylori infection and aneuploidies in CAG (P=0.0143) and GU (P=0.0498). No TP53 deletion was found in these gastric lesions, but p53-positive immunoreactivity was detected in 45% (5/11) and 12% (2/17) of CG and GU cases, respectively. However, there was no significant association between p53 expression and H pylori infection. CONCLUSION: The occurrence of aneuploidies in benign lesions evidences chromosomal instability in early stages of gastric carcinogenesis associated with Hpylori infection, which may confer proliferative advantage. The increase of p53 protein expression in CG and GU may be due to overproduction of the wild-type protein related to an inflammatory response in mucosa. 展开更多
关键词 ANEUPLOIDIES TP53 gene p53 protein GASTRITIS Gastric ulcer
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