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.     

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.     

16例抗甲状腺药物致粒细胞缺乏症的防治

目的：分析抗甲状腺药物（ATD）引起粒细胞缺乏症（粒缺）的原因、危害，提出防治措施。方法：对5年来16例因ATD引起的粒缺住院患者临床资料进行回顾性分析。结果：ATD引起粒缺多发生于服药后2-12周，起病时多伴有发热、咽痛、乏力等症状，糖皮质激素合并惠尔血（rhGM-CSF）组治疗血白细胞恢复时间比单纯应用激素组或单纯应用惠尔血组缩短。结论：ATD治疗过程中应密切监测血白细胞，尽早发现粒缺患者，及时采取防治感染、升白细胞等综合治疗措施。     

2型糖尿病血管并发症与胰岛素抵抗及血脂异常的关系

目的探讨2型糖尿病血管并发症与胰岛素抵抗及血脂异常之间的关系.方法测定99例2型糖尿病患者空腹血糖(FPG)、空腹胰岛素(FINS)、糖基化血红蛋白(HbA1c)、血脂、尿白蛋白排泄率(UAER)等,按血管并发症的有无分组.结果① 2型糖尿病血管病变组与无血管病变组比较,胰岛素抵抗指数(IRI)、血压、HbA1c、TCH、TG、LDL-C、VLDL-C、ApoB显著升高(P<0.05至P<0.001),HDL-C、ApoA显著降低(P分别<0.001,0.005).②胰岛素抵抗指数(IRI)与收缩压(SBP)、TCH、LDL-C、ApoB、尿白蛋白排泄率(UAER)呈正相关(r、P分别为0.333、 P<0.001,0.231、P<0.005,0.386、P<0.001, 0.467、P<0.001,0.427、P<0.001).结论① 2型糖尿病血管病变组比无血管病变组存在更严重的胰岛素抵抗和脂代谢紊乱.②胰岛素抵抗与血脂紊乱、血压及尿白蛋白排泄率密切相关.     

男性特发性低促性腺激素性性腺功能减退症患者心理健康状况研究

目的 了解男性特发性低促性腺激素性性腺功能减退症（IHH）患者的心理健康状况。方法 选取2012年1月-2015年1月在安徽医科大学第一附属医院内分泌科住院诊治的男性IHH患者38例（IHH组）,另选取同期在本院体检的健康男性青年20例为对照组。测定两组双侧睾丸容积、阴茎长度、性激素〔卵泡刺激素（FSH）、黄体生成素（LH）、睾酮（T）〕、血脂〔总胆固醇（TC）、三酰甘油（TG）、低密度脂蛋白胆固醇（LDL-C）、高密度脂蛋白胆固醇（HDL-C）〕、空腹血糖、空腹胰岛素、25羟维生素D等水平,并运用艾森克个性问卷（EPQ）、自卑感量表（FIS）、症状自评量表（SCL-90）评定两组心理健康状况。结果 两组年龄、BMI、TC、LDL-C、HDL-C、空腹血糖和25羟维生素D比较,差异均无统计学意义（P＞0.05）;IHH组睾丸左侧容积、睾丸右侧容积、阴茎长度、FSH、LH、T均低于对照组;TG、空腹胰岛素和胰岛素抵抗指数（HOMA-IR）均高于对照组（P＜0.05）。EPQ：两组内外向（E）、精神质（P）和掩饰性（L）评分比较,差异无统计学意义（P＞0.05）;IHH组神经质（N）评分高于对照组（P＜0.05）。FIS：两组学习能力评分比较,差异无统计学意义（P＞0.05）;IHH组自我价值、社交自信、外貌自信、体能自信和FIS量表总分均高于对照组（P＜0.05）。SCL-90：IHH组躯体化、强迫、人际关系敏感、抑郁、焦虑、敌对、恐惧、偏执、精神病性、其他因子评分及总分均高于对照组（P＜0.05）。SCL-90总分与N（r=0.844,P＜0.001）、P（r=0.733,P=0.003）、自我价值（r=0.748,P=0.002）、社交自信（r=0.551,P=0.041）、外貌自信（r=0.687,P=0.007）呈正相关。多元线性回归分析结果显示,N和自我价值是影响IHH患者心理健康的因素（P＜0.05）。结论 男性IHH患者心理健康水平低于正常人群,伴有N、自我价值因子评分较高的患者更容易发生心理问题。     

子宫球蛋白相关蛋白1与桥本甲状腺炎的相关性

目的 探讨子宫球蛋白相关蛋白1(UGRP1)与桥本甲状腺炎(HT)的相关性。方法 通过免疫组化方法检测正常人、Graves病(GD)和桥本甲状腺炎患者甲状腺组织UGRP1的表达。选取60例自身免疫性甲状腺病(AITD)患者,其中HT患者30例为HT组,GD患者30例为GD组,选取无AITD的健康人28例为对照组,分别比较3组间临床一般资料、甲状腺相关指标、血清UGRP1水平。采用Pearson及Spearman相关性分析血清UGRP1水平与甲状腺相关指标的关系。结果 HT患者甲状腺组织UGRP1表达阳性,正常人、GD患者甲状腺组织UGRP1表达阴性。3组间临床一般资料差异无统计学意义(P>0.05)。3组间TT₃、TT₄、TSH、TPOAb、ATG、甲状腺体积水平比较,差异有统计学意义(P<0.05)。HT组血清UGRP1水平为1.39(1.06,1.85)ng/mL,高于GD组0.77(0.43,1.72)ng/mL及对照组0.60(0.29,1.03)ng/mL,差异有统计学意义(P<0.05)。Spearman相关分析...     

吡格列酮治疗2型糖尿病的疗效观察

目的：观察吡格列酮对2型糖尿病的降糖、调脂疗效。方法：将48例2型糖尿病患者随机分为治疗组和对照组，治疗组加用吡格列酮30mg，每日1次早餐前30min口服，对照组加用安慰剂，疗程均12周。观察两组治疗前后糖、脂代谢相关指标的变化。结果：治疗组空腹及餐后2h血糖、空腹胰岛素、空腹C肽、糖化血红蛋白、血清总胆固醇较服药前有明显降低，与对照组比较有显著性差异（P＜0.05)。结论：吡格列酮可有效降低2型糖尿病患者的血糖、血脂，改善胰岛素抵抗。     

IL-1β诱导甲状腺细胞UGRP1表达及其与Fas/FasL介导凋亡的相关性

目的 探讨白细胞介素-1β(IL-1β)诱导甲状腺细胞子宫球蛋白相关蛋白1(UGRP1)的表达及其与Fas/Fas L介导细胞凋亡的相关性。方法 设立对照组、IL-1β组、IL-1β+抗Fas L抗体组,体外培养大鼠甲状腺细胞(FRTL-5细胞),采用Real-time PCR法检测各组细胞UGRP1及Fas mRNA表达水平;采用流式细胞术检测各组细胞凋亡率。结果与对照组比较,IL-1β组、IL-1β+抗Fas L抗体组UGRP1及Fas mRNA表达水平升高,差异有统计学意义(P <0.05);与对照组比较,IL-1β组甲状腺细胞早期凋亡率升高(7.49%±1.91%vs 28.46%±3.17%),差异有统计学意义(P <0.001),与IL-1β组比较,IL-1β+抗Fas L抗体组甲状腺细胞早期凋亡率降低(28.46%±3.17%vs 19.20%±1.75%),差异有统计学意义(P <0.05);与IL-1β组比较,IL-1β+抗Fas L抗体组UGRP1 mRNA (2.22±0.31 vs 2.66±0.28)及Fas mRNA(2.75±0.18 v...     

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