关于内分泌学临床教学的探讨

内分泌学教学强调基础医学和临床交叉学科对学习内分泌疾病的重要性,理论教学主要采取以授课为基础的学习,见习、实习阶段可引入以问题为基础的学习,以循证医学证据为依据适当补充新理念,师生互动共同提高教学质量。     

三例亚急性放射病临床报告

本文报道一起父、母和儿子3人受10居里铯-137连续意外照射150日的家族性事故。按物理学估算累积剂量约为8～15Gy, 染色体畸变分析相当于一次5Gy的全身照射, 被诊为亚急性放射病, 例3(父)还合并放射性皮肤烧伤。主要临床表现是倦怠、出血、体力衰退和全身细胞减少。Hb50～60g/LJ WBC0.4～1.0×10⁹/L, BpC8～12×10⁹/L.髂后骨穿细胞稀少, 示增生减低。造血祖细胞培养产率低于正常。E-玫瑰花结、淋巴细胞转换率减低。血栓弹力图异常与血小板数减少一致。甲皱微循环观察示血流缓慢, 微小血管排列紊乱。例1(子)在住院期间两次精液检查精子缺如。3例肝、肾功能和尿常规多次检查正常。 治疗采用大剂量康力龙和654-2合用, 用时予以输血、抗感染措施。例l、3还分别输8次胎肝；例l在WBC 0.4×10⁹/L时, 住层流病房隔离。经过6个月治疗全部活存并基本康复出院。     

UGRP1与成人隐匿性自身免疫性糖尿病的相关性

目的 探讨子宫球蛋白相关蛋白1(UGRP1)与成人隐匿性自身免疫性糖尿病(LADA)的相关性。方法 选取124例受试者,其中LADA患者45例为LADA组,2型糖尿病(T2DM)患者41例为T2DM组,无糖尿病的健康人38例为对照组,分别比较3组间一般资料、糖尿病相关指标、血清UGRP1水平。采用Spearman相关性分析血清UGRP1与糖尿病相关指标的关系。采用二元Logistic回归分析UGRP1是否为LADA发病的独立危险因素。采用ROC曲线分析探讨UGRP1在LADA中的诊断价值。结果 3组间体质量指数(BMI)、收缩压(SBP)、舒张压(DBP)、空腹血糖(FBG)及餐后2 h血糖(2hPBG)、C肽(FCP)及餐后2 h C肽(2hCP)、糖基化血红蛋白(HbA1c)、糖尿病抗体(GADAb、IA-2、ZnT8)指标比较,差异有统计学意义(P<0.05)。LADA组血清UGRP1水平高于对照组及T2DM组,差异有统计学意义(P<0.05)。Spearman相关性分析结果显示,糖尿病患者血清UGRP1水平与FCP、2hCP、GADAb、阳性糖尿病抗体数目相关。二元...     

脂粘素的研究现状

脂粘素 (Adiponectin,GBP2 8,ap M1)是最近发现的一种由脂肪组织分泌的胶原样蛋白质 ,其编码基因位于人染色体 3q2 7,称 ap M1基因。初步研究显示 :脂粘素具有抗动脉粥样硬化、改善胰岛素抵抗、抗炎等作用 ,血浆脂粘素水平降低与动脉粥样硬化、肥胖症、2型糖尿病的发病相关 ,但其具体作用机制尚未明确     

糖尿病和高血压家族史对糖耐量正常人群遗传表型影响的研究

目的探讨糖尿病、高血压家族史对糖耐量正常人群的胰岛素抵抗(IR)表型及胰岛β细胞功能的影响。方法选择275例糖耐量正常的人群,根据高血压和糖尿病家族史,分为4组:同时有高血压和糖尿病家族史组(H D 组);无高血压和糖尿病家族史组(H-D-组);无高血压家族史但有糖尿病家族史(H-D 组);有高血压家族史但无糖尿病家族史(H D-组)。应用胰岛素抵抗指数(HOMA-IR)、β细胞功能(HOMA-β)分别评估胰岛素抵抗和胰岛β细胞功能。结果与H-D-组相比,H D 组中体质指数、腰臀比、腰围、血压、血糖、甘油三酯、胆固醇、HOMA-IR均明显增高,而高密度脂蛋白胆固醇、HOMA-β明显降低,差别有统计学意义(P<0.05);H D-组及H-D 组中的上述指标也有不同程度异常改变。相关分析显示,糖尿病、高血压家族史均与HOMA-IR正相关(r值分别0.489,0.305,均P<0.05),与HOMA-β均负相关(r值分别-0.311,-0.212,均P<0.05)。两者对HOMA-IR贡献分别为23.4%(R2=0.234),11.4%(R2=0.114),对HOMA-β贡献分别为29.1%(R2=0.291)、9.4%(R2=0.094)。结论具有糖尿病、高血压家族史的糖耐量正常人群可能具有更明显的IR表型特点和β细胞功能降低,其中糖尿病家族史的影响程度大于高血压家族史。     

208例Ⅱ型糖尿病男子性功能障碍调查

勃起功能障碍(erectile dysfunction，ED)是糖尿病常见的并发症，据报道其并发率为35％～70％，糖尿病患者中ED发生率是非糖尿病患者的3倍。为探讨Ⅱ型糖尿病患者勃起功能障碍的发生情况及影响因素，笔者对208例Ⅱ型糖尿病男性患者进行了调查。     

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.     

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.     

垂体柄中断综合征病例临床特点分析简

目的 探讨垂体柄中断综合征的临床特点,提高对该病的诊疗水平.方法 回顾性分析该院7例垂体柄中断综合征患者的临床表现、内分泌功能试验和影像学检查特点.结果 7例患者中有6例生长激素绝对缺乏,1例生长激素相对缺乏;4例存在低促性腺激素性性腺功能减退;4例存在中枢性甲低;6例出现肾上腺皮质功能低下.磁共振检査显示患者垂体前叶体积小,垂体柄缺如,垂体后叶异位.结论 垂体柄中断综合征发病率低,诊断主要依据为垂体磁共振检查,临床表现以生长激素缺乏为主,多合并促性腺激素释放激素、促肾上腺皮质激素和促甲状腺激素不同程度缺乏.