完全型雄激素不敏感综合征2例临床特点及处理

雄激素不敏感综合征(androgen insensitivity syndrome,AIS)又称为睾丸女性化综合征(testicular feminization syndrome,TFS),是一种X连锁遗传病,是男性假两性畸形中较常见的类型,可分为完全型AIS和不完全型AIS,其原因主要是雄激素受体(androgen receptor,AR)基因的突变导致其对雄激素产生抵抗和不应答。本文回顾南京医科大学附属妇产医院2例CAIS患者的临床资料及诊疗过程,以期能进一步提高对该病的认知及诊治水平。     

富血小板血浆治疗兔跟腱病的实验研究

目的探讨富血小板血浆（platelet-rich plasma，PRP）治疗兔跟腱病的效果，为 PRP 治疗跟腱病的临床应用提供实验依据。方法取成年新西兰大白兔 48 只，体质量 2.5～3.0 kg，雌雄不限，随机分为模型组（A 组）、模型对照组（B 组）、模型+治疗对照组（C 组）、模型+治疗组（D 组），每组 12 只。A、C、D 组注射Ⅰ型胶原酶制备兔跟腱病模型，B 组注射等剂量生理盐水。D 组取自体耳中心动脉血，采用二次离心法制备 PRP，血小板计数提示 PRP 血小板达全血的 3～5 倍。模型制备后，C、D 组于造模部位分别注射生理盐水、自体 PRP，每周 1 次，每次 0.8 mL，连续 4 周。于 PRP 注射结束后 1 周，采用超声弹性定量成像检测技术评价各组跟腱相对硬度，以 HRD%（硬度百分比）表示；万能电子拉力试验机测定跟腱最大断裂负荷；ELISA 法测定Ⅰ、Ⅲ型胶原蛋白含量；HE 染色和 Masson 染色观察跟腱胶原纤维形态。结果各组动物均存活至实验完成。超声弹性定量成像检测及力学试验示，A 组跟腱硬度评价指标 HRD% 及最大断裂负荷显著小于 B 组（P<0.05），C 组显著小于 D 组（P<0.05）。ELISA 检测示，A 组Ⅰ型胶原蛋白含量显著低于 B 组、C 组显著低于 D 组，A 组Ⅲ型胶原蛋白含量显著高于 B 组、D 组显著高于 C 组，差异均有统计学意义（P<0.05）。HE 染色和 Masson 染色示，A 组跟腱胶原纤维呈不规则卷曲，结构严重破坏；B 组呈平行有序排列、结构完整；C 组呈不规则卷曲，结构紊乱；D 组呈轻微卷曲，结构较为完整。 结论Ⅰ型胶原酶注射可成功构建兔跟腱病模型，PRP 治疗可增加跟腱硬度和最大断裂负荷，上调Ⅰ、Ⅲ型胶原蛋白表达水平，改善跟腱胶原纤维结构和形态，促进兔跟腱病的恢复。     

膜辅助蛋白CD46 rs1970530遗传变异对肝癌发病风险的影响

背景与目的：膜辅助蛋白CD46可保护宿主细胞免受补体依赖的细胞毒性作用，研究表明，CD46可能作为肝细胞癌（hepatocellular carcinoma，HCC）患者的潜在生物标志物。探讨CD46基因表达及启动子区遗传变异与HCC发病风险的关系。方法：通过基因表达谱交互分析（gene expression profiling interactive analysis，GEPIA）在线网站分析HCC组织和正常肝组织CD46表达的差异；2011—2015年在华北理工大学附属唐山市工人医院和华北理工大学附属唐山市人民医院经病理学检查确诊且未经放化疗的240例HCC患者作为病例组，对照组为同时期入院体检的500名健康人群。采用聚合酶链反应-限制性片段长度多态性分析（polymerase chain reaction-restriction fragment length polymorphism，PCR-RFLP）法进行基因分型，检测两组基因型频率和等位基因频率，评估CD46 rs1970530遗传变异与HCC发病风险的关系。结果：CD46在HCC组织与正常组织中的表达差异有统计学意义（P<0.05）。经非条件logistic回归分析发现，CD46 rs1970530至少携带一个G等位基因型在病例组及对照组之间差异有统计学意义（OR=0.666，95% CI：0.448~0.990，P<0.05）；两组间等位基因G频率差异有统计学意义（OR=0.689，95% CI：0.478~0.994，P<0.05）。分层分析结果显示，至少携带一个G等位基因者可降低高年龄组（>60岁）（P=0.048）和男性（P=0.023）人群的HCC发病风险，在女性和低年龄组（≤60岁）中差异无统计学意义（P>0.05）。按吸烟状态进行分层分析，rs1970530变异与HCC易感性无明显关联（P>0.05）。结论：HCC中CD46基因高表达及CD46 rs1970530遗传变异影响HCC发病风险。     

Influenza A Virus Hemagglutinin and Other Pathogen Glycoprotein Interactions with NK Cell Natural Cytotoxicity Receptors NKp46, NKp44, and NKp30

Natural killer (NK) cells are part of the innate immunity repertoire, and function in the recognition and destruction of tumorigenic and pathogen-infected cells. Engagement of NK cell activating receptors can lead to functional activation of NK cells, resulting in lysis of target cells. NK cell activating receptors specific for non-major histocompatibility complex ligands are NKp46, NKp44, NKp30, NKG2D, and CD16 (also known as FcγRIII). The natural cytotoxicity receptors (NCRs), NKp46, NKp44, and NKp30, have been implicated in functional activation of NK cells following influenza virus infection via binding with influenza virus hemagglutinin (HA). In this review we describe NK cell and influenza A virus biology, and the interactions of influenza A virus HA and other pathogen lectins with NK cell natural cytotoxicity receptors (NCRs). We review concepts which intersect viral immunology, traditional virology and glycobiology to provide insights into the interactions between influenza virus HA and the NCRs. Furthermore, we provide expert opinion on future directions that would provide insights into currently unanswered questions.     

Urinary excretion of platinum (Pt) following skin and respiratory exposure to soluble Pt at South African precious metals refineries

Adverse respiratory and skin health effects have been associated with occupational exposure to soluble platinum (Pt). However, the relationship between skin exposure and urinary Pt excretion has not yet been investigated. In this study we examined the relationship between skin and respiratory exposure to soluble Pt and urinary Pt excretion at two South African precious metals refineries.The skin and respiratory exposure to soluble Pt as well as the urinary Pt excretion of forty precious metals refinery workers was assessed simultaneously using Ghostwipes?, Methods for the Determination of Hazardous Substances method 46/2 and spot urine tests, respectively.The geometric mean for skin exposure to soluble Pt on four anatomical positions (palm, wrist, neck and forehead) was 0.008?μg/cm² [95% confidence interval (CI): 0.005-0.013?μg/cm²], while the geometric mean for respiratory exposure was 0.301?μg/m³ (95%CI: 0.151-0.601?μg/m³) and the geometric mean for urinary Pt excretion was 0.212?μg/g creatinine (95%CI: 0.169-0.265?μg/g creatinine). Partial correlations identified significant positive correlations between skin exposure, respiratory exposure and urinary Pt excretion (r?=?0.580 to 0.754).Skin and respiratory exposures to soluble Pt were both positively correlated with urinary Pt excretion, and both exposure routes should be considered when investigating occupational exposure to soluble Pt.