A case of sudden cardiac death due to mitochondrial disease

A 25-year-old, emaciated man without medical treatment was found to have died suddenly at home by his mother. At autopsy, there were no injuries to his body, but significant circulatory insufficiency was observed. Electron microscopy revealed abnormal mitochondria in cells of the cardiac conduction system. The conduction system was filled with mitochondrial size abnormalities and mitochondrial cristae abnormalities. No notable abnormal findings were observed in other organs. Genetic examination of the blood revealed the mitochondrial pathogenetic variant m.3243A>G. Epileptic seizures, diabetic ketoacidosis, and hyperosmolar hyperglycemic state were unlikely to be the cause of sudden death. The cause of death was diagnosed as arrhythmia possibly induced by the failure of the cardiac conduction system due to mitochondrial disease. This is a rare case of sudden death caused by an accumulation of abnormal mitochondria in the cardiac conduction system.     

多层螺旋CT对继发性附件扭转的综合评估

目的探讨继发性附件扭转的CT特征及其诊断效能,构建继发性附件扭转的评分系统。资料与方法收集经手术证实的伴有附件肿物的继发性附件扭转患者37例,以及伴有腹痛、附件肿物的对照组患者34例,分析继发性附件扭转的CT特征,采用受试者工作特征(ROC)曲线评价其诊断效能,构建继发性附件扭转的综合评分系统(AT-CI)。结果与对照组比较,继发性附件扭转以下CT特征发生率较高,包括肿物壁偏心性增厚(X^2=4.41,P<0.05)、附件出血(X^2=12.68,P<0.001)、肿物-子宫之间团块状结构(X^2=13.62,P<0.001)、旋涡征(X^2=10.71,P<0.05)、附件周围脂肪模糊/腹水(X^2=5.82,P<0.05)。其中肿物-子宫之间团块状结构敏感度及诊断价值最高,为81.1%(ROC曲线下面积0.71),旋涡征特异度最高,为91.2%。ATCI诊断效能优于任意单一CT特征(ROC曲线下面积0.83),评分0~2分继发性附件扭转可能性小,3~4分怀疑继发性附件扭转,评分>4分,则高度怀疑继发性附件扭转且特异度为100%。结论继发性附件扭转具有典型的CT特征,包括肿物壁偏心性增厚、附件出血、肿物-子宫之间团块状结构、旋涡征、肿物周围脂肪模糊/腹水。AT-CI是综合了继发性附件扭转全部CT特征的实用评分系统,提高了继发性附件扭转的诊断准确性。     

彩色多普勒超声诊断卵巢肿瘤蒂扭转的临床意义

目的：探讨彩色多普勒超声诊断卵巢肿瘤蒂扭转的临床意义。方法方便选取2012―2015年该院收治的58例疑似卵巢肿瘤蒂扭转患者作为观察目标，入选病例均应用彩色多普勒超声进行检查，并将检查结果同术后病理检查结果进行比较。结果58例患者中，术后病理证实卵巢肿瘤蒂扭转者51例，彩色多普勒超声共确诊49例，检查准确率为96.1%；囊壁增厚、腹腔或盆腔积液、可见混合型团块是卵巢肿瘤蒂扭转的主要彩超表现。结论卵巢肿瘤蒂扭转应用彩色多普勒超声诊断，可显著提高诊断准确率，具有积极的临床使用和推广价值。     

消炎痛治疗宫内放环后出血

积极治疗节育手术并发症是搞好计划生育的一个重要环节。月经异常是宫内放置节育环的主要并发症，也是节育环停止使用的主要原因。近几年来本人采用消炎痛治疗官内放环后月经异常，取得了良好的效果。     

Histopathological characterisation of effects of the mouse Pax6 missense mutation on eye development

Mutations in PAX6/Pax6 lead to a variety of ocular anomalies in humans and mice. The aim of the study was to characterise the ocular abnormalities caused by the missense Pax6^Leca4 mutation and compare them to published observations on Pax6 alleles that are functionally equivalent to Pax6⁻ null alleles (such as Pax6^Sey and Pax6^Sey-Neu) and human inherited eye diseases. Ocular features of homozygous Pax6^Leca4/Leca4 and heterozygous Pax6^Leca4/+ embryos at E12.5-E18.5, heterozygous Pax6^Leca4/+ young mice at P18 and heterozygous Pax6^Leca4/+ adults at 12 weeks were analysed histologically with their wild-type Pax6^+/+ littermates. Homozygous Pax6^Leca4/Leca4 fetuses died perinatally with no eyes although an optic cup rudiment with pigmented cells developed. Pax6^Leca4/+ mice were microphthalmic and a range of other severe ocular phenotypes affected both the anterior and the posterior segments. In contrast to Pax6^+/−, the Pax6^Leca4/+ eyes had no goblet cells in the corneal epithelium, the iris was not hypoplastic and there was no lens-corneal epithelial plug. However, microphthalmia was more severe, corneal vascularisation occurred earlier (during fetal stages), pigmented cells were present in the vitreous and corneal stroma and the ciliary body was malformed or abnormal. These results show that, although Pax6^Leca4/+ lacked some eye abnormalities commonly seen in Pax6^Sey/+ and Pax6^Sey-Neu/+ eyes, in most respects their eyes were more severely affected. These differences probably reflect both differences between the Pax6^Leca4 and the Pax6^Sey-Neu mutations and differences in modifier gene expression in different genetic backgrounds. The presence of pigmented cells in the cornea is a novel observation. Some Pax6^Leca4/+ ocular abnormalities were similar to those present in human Peters' anomaly and persistent hyperplastic primary vitreous (PHPV) so Pax6^Leca4/+ mice provide a useful model for some inherited eye diseases.     

可吸收性医用珊瑚人工骨的致突变性研究

目的评价珊瑚人工骨的遗传毒性。方法采用Ames试验;细胞染色体畸变试验和小鼠骨髓细胞微核试验。结果不同浓度的浸提液加与不加S9mix条件下Ames试验;细胞染色体畸变试验以及微核试验与阴性对照组比较无显著差异,结果为阴性。结论在本试验系统条件下,可吸收性珊瑚人工骨无致突变作用。     

132例男性不育患者遗传学病因分析

目的：对男性不育患者进行遗传学病因分析，并探讨其遗传效应。方法：采取132例男性不育患者外周血进行染色体核型分析。结果：132例男性不育患者中，染色体异常24例，染色体变异22例。其中大Y20例，47，XXY18例，45．XY，t(13；14)3例，小Y和46，XY，inv(9)各2例，46，XY，t(9；22)1例。结论：染色体异常是男性不育的重要原因，并建议男性不育患者进行基因诊断，以便确诊是否属于遗传病，为生育提供指导，避免盲目治疗。     

Warping of cross sections in the torsion of long bones with internal fracture fixation plates

Torsion of noncircular beams results in warping of each cross section. When noncircular cross sections are constrained to remain plane, the resulting shear stress distribution is different from what Saint Venant torsion (with warping) would predict. This has practical implications to the stress analysis of plated long bones subjected to torsional loadings. Analyses in which warping is not allowed predict incorrect stress fields in the plate and bone and overpredict the amount of stress shielding associated with fracture plate fixation.