广西毛南族17个Y染色体短串联重复序列基因座遗传多态性

目的:调查17个Y染色体短串联重复序列(Y-STR)基因座及其单倍型在广西毛南族人群中的分布情况.方法:应用AmpFlSTR YfilerTM荧光标记复合扩增系统,对毛南族208名无关男性个体血样进行17个Y-STR位点的复合扩增,用ABI PRISM310遗传分析仪对扩增产物进行检测分析.结果:DYS456、 DYS389Ⅰ、 DYS390、 DYS389Ⅱ、 DYS458、 DYS19、 DYS385a＼b、 DYS393、 DYS391、 DYS439、 DYS635、 DYS392、 Y-GATA-H4、 DYS437、 DYS438、 DYS448各位点遗传多样性(GD值)分布在0 5852～0 9770之间.17个Y-STR位点共同构成的单倍型205种,其单倍型多样性为0 999785.广西毛南族与其他群体的Y-STR位点等位基因分布差异具有统计学意义.结论:广西毛南族17个Y-STR位点具有丰富的遗传多样性,可为父权鉴定和父系进化研究提供有价值的遗传学资料.     

阿尔茨海默病淀粉样肽级联假说及其相关基因研究进展

阿尔茨海默病(Alzheimer's disease,AD)是老年人群中最常见的一种痴呆症,为一种原因不明的神经系统退行性病变.AD的组织病理学表现主要为老年斑(senile plaques,SP)、神经原纤维缠结(neurofibrillary tangles,NFTs),以及由凋亡引起的区域性神经细胞死亡等.老年斑在镜下呈球形病变,表现为退变的神经轴突围绕中心淀粉样物质,这种淀粉样物质主要是β-淀粉样肽(β-amyloid,AB).     

多胎妊娠孕中期减至双胎与初始双胎妊娠的妊娠结局比较

目的 探讨多胎妊娠孕妇孕中期行减胎术减至双胎后与初始双胎孕妇的妊娠结局比较.方法 选择2007年8月至2010年9月在山东大学附属省立医院妇产科门诊或住院、多胎妊娠孕妇567例,其中双胎妊娠孕妇478例为非减胎组;妊娠12周以后在本院实施孕中期减胎术(在超声引导下经腹的胎心内氯化钾注射法),由初始多胎减至双胎的孕妇89例为减胎组.减胎组孕妇中,初始三胎70例,初始四胎13例,初始五胎及以上6例.观察两组孕妇年龄、分娩孕周、妊娠并发症、新生儿出生体质量及新生儿结局.结果 (1)两组孕妇年龄及分娩孕周:非减胎组与减胎组孕妇平均年龄分别为(29.7±4.5)和(29.9±5.0)岁,两组比较,差异无统计学意义(P=0.755).非减胎组与减胎组孕妇平均分娩孕周分别为(35.3±3.9)和(34.4±6.3)周,两组比较,差异有统计学意义(P＜0.01).分娩孕周＜28周者(即流产)在非减胎组发生率为6.3％( 30/478),在减胎组为15.7％( 14/89),两组比较,差异有统计学意义(P=0.002).(2)两组妊娠并发症:子痫前期发生率在非减胎组及减胎组分别为8.2％ (39/478)和12.4％(11/89),两组比较,差异无统计学意义(P=0.199);妊娠期糖尿病发生率在非减胎组及减胎组分别为1.7％(8/478)和3.4％( 3/89),两组比较,差异无统计学意义(P =0.287).(3)两组新生儿情况:①非减胎组两个胎儿出生体质量差值＞400g的发生率为28.9％(138/478),减胎组为27.0％ (24/89),两组比较,差异无统计学意义(P=0.715).非减胎组两个胎儿出生体质量差值＞100g的发生率为75.1％(359/478),减胎组为75.3％(67/89),两组比较,差异无统计学意义(P =0.972).②非减胎组新生儿平均出生体质量为(2700 ±468)g,明显高于减胎组的(2352 ±602)g,两组比较,差异有统计学意义(P＜0.01).非减胎组＞孕36周+1 分娩的新生儿平均出生体质量为(2809 ±424)g,减胎组为(2707±506)g,两组比较,差异有统计学意义(P＜0.01).③减胎组及非减胎组＞28孕周分娩新生儿的死亡率分别为1.3％( 1/78)和2.2％( 10/448);减胎组及非减胎组新生儿患病率分别为3.8％ (3/78)和4.0％ (18/448),两组＞28孕周分娩的新生儿死亡率及患病率分别比较,差异均无统计学意义(P =0.588、0.943).结论 多胎妊娠减胎至双胎的妊娠结局较初始双胎者差,其流产率较高;多胎妊娠减胎后分娩孕周受初始胎儿数的影响,新生儿出生体重质量低于初始双胎.     

Diaphragmatic hernia during pregnancy: a case report with a review of the literature from the past 50 years

Diaphragmatic hernia is a rare complication during pregnancy. Only 30 reports have been published on this subject in English between 1959 and 2009. Due to misdiagnoses and management delays, diaphragmatic hernia usually presents itself as a life-threatening emergency. Here, we present a case report of a patient with a traumatic diaphragmatic hernia who became acutely symptomatic during pregnancy. The diaphragmatic hernia was managed successfully, and we describe the presentation, management and outcome of this case. We also present a review of all of the reported cases of diaphragmatic hernias complicating pregnancy that have been published in English during the past 50 years.     

妊娠期糖尿病合并妊娠期肝内胆汁淤积症母儿结局探讨

目的:探讨妊娠期糖尿病合并妊娠期肝内胆汁淤积症对孕产妇和国产儿结局的影响。方法:分析17例GDM合并ICP患者和85例单纯GDM患者的临床资料。结果:两组间孕妇分娩孕周差异有统计学意义(P<0.05)。两组先兆早产、早产、酮症、胎膜早破、羊水过多、胎盘早剥、剖宫产、产后出血、宫内生长受限、胎儿宫内窘迫、巨大儿、新生儿低血糖、新生儿窒息和呼吸窘迫综合征、胎儿畸形、死胎、死产发生率比较,差异均无统计学意义(P>0.05)。结论:对妊娠期糖尿病合并妊娠肝内胆汁淤积症患者早诊早治,有效控制血糖及胆汁酸,适时终止妊娠可改善围产儿结局。     

泰必利联合尼莫地平治疗偏头痛疗效观察

目的:观察泰必利和尼莫地平治疗偏头痛的疗效。方法:选择118例偏头痛患者,随机分为两组(治疗组比对照组=2:1),治疗组80例;对照组38例,治疗组口服泰必利0.1,3次/日,同时服用尼莫地平20～40mg,3次/日。对照组口服血塞通50mg,3次/日,2周为一疗程。结果治疗组头痛缓解和脑血管血流速度减慢优于对照组,总有效率95%,且不良反应轻微。结论:泰必利联合尼莫地平治疗偏头痛有较好疗效,且不良反应少。     

Undertaking midwifery studies: Commencing students’ views

Objective

to explore the motivations and beliefs of commencing midwifery students against a background of high course demand and high student attrition.

Design

a qualitative analysis of student reflective essays.

Setting

Melbourne, Australia.

Participants

all commencing midwifery students, in 2008, were invited to participate (n=41).

Measurements and findings

three primary motivations for choosing midwifery were identified, including: notions of altruism (wanting to help), a fascination with pregnancy and birth, and a view of midwifery as a personally satisfying career.

Key conclusions and implications for practice

Bachelor of Midwifery programmes attract students with idealised views about midwifery practice. Such views may lead to student disillusionment, tensions with educators and clinicians, and higher rates of student attrition. Students need greater support to examine their views about midwifery practice. More meaningful support may assist the students' successful socialisation into clinical practice.     

Interleukin (IL)‐39 [IL‐23p19/Epstein–Barr virus‐induced 3 (Ebi3)] induces differentiation/expansion of neutrophils in lupus‐prone mice

Interleukin (IL)‐12 family cytokines play critical roles in autoimmune diseases. Our previous study has shown that IL‐23p19 and Epstein–Barr virus‐induced 3 (Ebi3) form a new IL‐12 family heterodimer, IL‐23p19/Ebi3, termed IL‐39, and knock‐down of p19 or Ebi3 reduced diseases by transferred GL7⁺ B cells in lupus‐prone mice. In the present study, we explore further the possible effect of IL‐39 on murine lupus. We found that IL‐39 in vitro and in vivo induces differentiation and/or expansion of neutrophils. GL7⁺ B cells up‐regulated neutrophils by secreting IL‐39, whereas IL‐39‐deficient GL7⁺ B cells lost the capacity to up‐regulate neutrophils in lupus‐prone mice and homozygous CD19^cre (CD19‐deficient) mice. Finally, we found that IL‐39‐induced neutrophils had a positive feedback on IL‐39 expression in activated B cells by secreting B cell activation factor (BAFF). Taken together, our results suggest that IL‐39 induces differentiation and/or expansion of neutrophils in lupus‐prone mice.     

A novel IL‐23p19/Ebi3 (IL‐39) cytokine mediates inflammation in Lupus‐like mice

Interleukin‐12 family cytokines have emerged as critical regulators of immunity with some members (IL‐12, IL‐23) associated with disease pathogenesis while others (IL‐27, IL‐35) mitigate autoimmune diseases. Each IL‐12 family member is comprised of an α and a β chain, and chain‐sharing is a key feature. Although four bona fide members have thus far been described, promiscuous chain‐pairing between alpha (IL‐23p19, IL‐27p28, IL‐12/IL‐35p35) and beta (IL‐12/IL‐23p40, IL‐27/IL‐35Ebi3) subunits, predicts six possible heterodimeric IL‐12 family cytokines. Here, we describe a new IL‐12 member composed of IL‐23p19 and Ebi3 heterodimer (IL‐39) that is secreted by LPS‐stimulated B cells and GL7⁺ activated B cells of lupus‐like mice. We further show that IL‐39 mediates inflammatory responses through activation of STAT1/STAT3 in lupus‐like mice. Taken together, our results show that IL‐39 might contribute to immunopathogenic mechanisms of systemic lupus erythematosus, and could be used as a possible target for its treatment.     

脑电特征分析在阿尔茨海默症临床研究中的应用

阿尔茨海默症(AD)是典型的脑认知功能障碍性疾病,严重影响患者的工作与生活,如何早期诊断此类疾病,一直是人们关注的热点,也是一项有意义的研究。脑电信号包含的功能信息,在脑认知功能障碍的早期诊断中有着独特的优势。从AD的发病机理出发,总结AD的常规诊断方法,进一步阐述脑电特征分析方法,即脑电功率谱、脑诱发电位、脑电近似熵及脑电复杂度等在AD诊断中的应用研究现状,并进行展望。