血清视黄醇结合蛋白4在妊娠糖尿病患者中显著升高

To investigate the relationship between serum retinol-binding protein 4(RBP4) and gestational diabetes mellitus (GDM) in Chinese Han pregnant women.195 (23-42 years) pregnant women were recruited (July 2005 to December 2007) from the Department of Gynecology and Obstetric in Ruijin Hospital during their visiting for routine prenatal examination.99 subjects belonged to GDM group,and 96 belonged to the group with normal glucose tolerance (NGT).65 non-pregnant healthy women served as control.Serum RBP4 was measured using sandwich enzyme linked immunosorbent assay (ELISA).Pregnant women had higher level of serum RBP4 than that of non-pregnant control.The concentration of serum RBP4 was significantly increased in GDM group as compared with NGT group[(43.04±1.85 vs 33.84±2.17) rag/L,P<0.01].Multiple stepwise regression analysis showed that triglycerides and homeostasis assessment for insulin resistance (HOMA-IR) were independent variables of RBP4 (r2 =0.165) in pregnant women.The results suggest that serum RBP4 level is significantly increased in pregnant women.Women with GDM had even higher RBP4 level than that of normal pregnant women,and RBP4 levele was positively correlated with triglycerides and HOMA-IR.     

血清视黄醇结合蛋白4在妊娠糖尿病患者中显著升高

To investigate the relationship between serum retinol-binding protein 4(RBP4) and gestational diabetes mellitus (GDM) in Chinese Han pregnant women.195 (23-42 years) pregnant women were recruited (July 2005 to December 2007) from the Department of Gynecology and Obstetric in Ruijin Hospital during their visiting for routine prenatal examination.99 subjects belonged to GDM group,and 96 belonged to the group with normal glucose tolerance (NGT).65 non-pregnant healthy women served as control.Serum RBP4 was measured using sandwich enzyme linked immunosorbent assay (ELISA).Pregnant women had higher level of serum RBP4 than that of non-pregnant control.The concentration of serum RBP4 was significantly increased in GDM group as compared with NGT group[(43.04±1.85 vs 33.84±2.17) rag/L,P<0.01].Multiple stepwise regression analysis showed that triglycerides and homeostasis assessment for insulin resistance (HOMA-IR) were independent variables of RBP4 (r2 =0.165) in pregnant women.The results suggest that serum RBP4 level is significantly increased in pregnant women.Women with GDM had even higher RBP4 level than that of normal pregnant women,and RBP4 levele was positively correlated with triglycerides and HOMA-IR.     

体内外诱导血红素加氧酶-1延长异种移植胰岛功能和生存

Background  The induced expression of heme oxygenase-1 (HO-1) in donor islets improves allograft survival. Cobalt protoporphyrin (CoPP) could significantly enhance the expression of HO-1 mRNA and protein in rat islet safely. Our work was to study how to protect pancreatic islet xenograft by CoPP-induction.

Methods  Islet xenografts treated with CoPP-induction and CoPP+ Zinc protoporphyrin (ZnPP) in vitro and in vivo were randomly transplanted into murine subrenal capsule; then the graft survival time was compared by blood glucose level and pathological examination and meanwhile the interferon γ (IFN-γ), tumor necrosis factor α (TNF-α), interleukin 10 (IL-10) and IL-1β level in serum and their mRNA and HO-1 mRNA and protein expression were examined.

Results  Islets with CoPP-induction under low- and high-glucose stimulation exhibited much higher insulin secretion compared with other three groups. CoPP-induction could increase higher expression of HO-1 (mRNA: 3.33- and 76.09- fold in vitro and in vivo; protein: 2.85- and 58.72-fold). The normoglycemia time in induction groups ((14.63±1.19) and (16.88±1.64) days) was significantly longer. The pathological examination showed less lymphocyte infiltration in induction groups. The IL-10 level and its mRNA in induction groups were significantly higher.

Conclusions  The HO-1 induced by CoPP would significantly improve function, prolong normoglycemia time and reduce lymphocyte infiltration. Meanwhile CoPP-induction in vivo had more beneficial effects than in vitro. Its mechanism could be related to immune-modulation of IL-10.

     

21-羟化酶缺陷症伴肾上腺腺瘤及睾丸肾上腺残余肿瘤一例

目的 分析1例21-羟化酶缺陷症伴肾上腺腺瘤及睾丸肾上腺残余肿瘤患者的临床特点及分子遗传学诊断.方法 全面收集1例单纯男性化型21-羟化酶缺陷症患者的临床资料,对患者睾丸肿瘤组织进行病理活检,并采用PCR产物直接测序方法明确CYP21基因突变.结果 患者为中年男性,因"右侧肾上腺皮质腺瘤术后,左侧肾上腺肿块"入院;激素测定示:ACTH、孕酮、17-羟孕酮、雄烯二酮、睾酮明显高于正常值,CT示右侧肾上腺切除术后、左侧肾上腺弥漫性增生伴多发结节,精液常规未见精子.睾丸活检示:纤维组织增生伴玻璃样变和局灶钙化.基因测序检测到患者CYP21基因第2号内含子纯合突变.结论 未经诊治的21-羟化酶缺陷症患者可能伴发肾上腺腺瘤和(或)睾丸肾上腺残余肿瘤.     

一例46,XY完全性性腺发育不良患者SRY基因新突变报道

分析1例46,XY完全性性腺发育不良患者及其家系的临床及分子遗传学.收集患者的临床资料,并提取患者及其家系成员的外周血单个核细胞基因组DNA,应用PCR扩增SRY基因并直接测序,明确患者及其父母的基因突变.患者临床表现为原发性闭经、女性外生殖器、轻度乳房发育、阴毛腋毛缺如.内生殖器为子宫和条索状卵巢组织.染色体核型为46,XY.基因测序检测到患者SRY基因第66位氨基酸由丙氨酸突变为丝氨酸(A66T),并证实为一新的突变.

Abstract：

The clinical and genetic characteristics in a patient with 46,XY complete gonadal dysgenesis was investigated. Clinical features and laboratory data were collected from the patient and the family. The exon of SRY gene was amplified by PCR and sequenced. The patient presented with primary amenorrhea, nonambiguous female external genitalia, slight breast development, and no axillary hair or pubic hair. The female internal reproductive organs consisted of uterus and streaks of ovarian tissue. Howerver, the chromosome karyotype was 46,XY. A missense mutation of A66T in SRY gene was identified, which was not previously reported. The novel SRY mutation caused the sex reversal in this 46,XY female patient.     

肥胖青少年新发糖尿病的诊疗策略

近几十年来,儿童和青少年1型和2型糖尿病的患病率在稳步上升.由于儿童人群普遍变得越来越肥胖且具种族差异,依赖表型特征来鉴别1型和2型糖尿病变得越来越不可靠.     

临床病例讨论拒甜食、反复心慌、乏力——遗传性果糖不耐受症

一、病例摘要 患者,女性,34岁.因"拒甜食34年,反复心慌,乏力,四肢麻木4年"于2006年8月1日入院.     

血红素氧化酶-1保护异种胰岛移植物及机制研究

目的:探讨钴原卟啉(cobalt protoporphyrin,CoPP)诱导血红素氧化酶-1(heme oxygenase-1,HO-1)过表达对异种胰岛移植物的保护作用及其可能的机制.方法:采用大鼠对受体鼠胰岛移植模型.按术前不同处理方式将分离纯化的胰岛随机分为3组:A组胰岛体外培养36 h;B组胰岛与50 mmol/L的HO-1诱导剂CoPP共培养36 h:C组胰岛与50 mmol/L的CoPP及50 mmol/L的诱导阻断剂锌原卟啉(zinc protoporphyrin,ZnPP)共培养36 h.RT-PCR及Western印迹法检测各组胰岛HO-1 mRNA及蛋白表达.受体鼠也随机分为3组,每组11只,分别接受上述3组胰岛;比较各组受体鼠血糖维持正常之时间.ELISA法检测受体鼠血清IFN-γ、TNF-γ、IL-10及IL-1γ的含量.结果:CoPP预处理可诱导胰岛HO-1 mRNA和蛋白过表达.B组受体鼠血糖维持正常时间为(14.63±1.19)d.与A组的(9.88±2.17)d及C组的(9.38±1.60)d相比,有显著差异(P＜0.01),而A、C两组间无显著差异(P＞0.05).B组受体鼠血清IL-10含量为(72.97±9.74)pg/mL,与A组的(30.57±3.94)pg/mL及C组的(45.55±8.26)pg/mL比较,差异有统计学意义,P值分别为0.005及0.02.而3组间血清IFN-γ、TNF-γ及IL-1γ含量无显著差异(P＞0.05).结论:CoPP体外诱导HO-1过表达对异种胰岛移植物具保护作用;该作用可能与IL-10有关.     

瘦素与肥胖和糖尿病及其测定

瘦素是由肥胖(ob)基因编码的蛋白质产物;外周循环的瘦素含146aa,分子量为16Kda,具有强亲水性,并以单体形式存在与血浆中.     

“鸡尾酒”式免疫干预法防治1型糖尿病的最新研究进展

1型糖尿病(T1DM)是一种自身免疫性疾病,以遗传为基础,在某些环境因素作用下,诱发机体免疫系统功能障碍导致胰岛β细胞自身免疫性损伤,使其丧失合成和分泌胰岛素能力,引起糖代谢调节絮乱的自身免疫性疾病;多种免疫细胞参与T1DM的发生,包括致病性T细胞(CD4+、CD8+)、B细胞,树突状细胞(DCs)等。T1DM自身免疫进程可分为4个阶段,即遗传易感期、自身免疫攻击期、临床发病期和胰岛功能衰竭期[1]。