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.     

影响颅脑外伤术后颅内感染的危险因素分析

目的探讨影响颅脑外伤开颅术后颅内感染的危险因素。方法采用回顾性研究比较分析了912例颅脑损伤术后出现颅内感染与未出现颅内感染组间的差异因素。结果非感染 770例,颅内感染142例(15．6％)。感染类型有无菌性脑膜炎、细菌性脑膜炎、脑室炎及脑室积脓、脑脓肿、硬膜下腔积脓、术区皮下或(和)骨瓣下化脓或合并骨髓炎、切口感染。细菌检出率占感染的27．5％。颅脑外伤术后感染与高温季节、高龄、重度以上损伤、短期内两次以上手术、连续两侧开颅术、长时间 (>5 h)手术、显微外科手术、颅底与后颅凹手术、脑室外引流、皮下或硬膜外积液以及急诊手术等因素相关(P<0．05)。结论对具有上述危险冈素的易感患者应给予更密切的关注和预防性的处理。     

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.     

颅脑损伤患者脑疝前驱期特征性临床征象的研究

目的分析总结外伤性脑疝前驱期特征性临床征象及意义。方法回顾分析我科近5年238例脑疝发生前2h内的临床表现和辅助检查特点，并与同期198例未发生脑疝的重型颅脑损伤患者进行对比分析。结果脑疝组前驱期征象如昏迷加深、烦躁加重、尿失禁、侧脑室和外侧裂受压变窄伴脑基底池受压变窄、生命体征改变具有特征性，其发生率明显高于非脑疝组，两组差异有显著性意义（P〈0．01）。结论颅脑损伤患者出现脑疝前驱期特征性临床征象应作为超早期开颅的重要依据，是特殊的、迫切的手术指征。     

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。     

颅脑损伤患者上消化道出血的预防和治疗(附625例报告)

目的探讨颅脑损伤后上消化道出血的预防措施及其治疗方法。方法回顾性分析625例颅脑损伤后上消化道出血的病例,在治疗原发伤病基础上,采用止血、制酸、保护胃黏膜等对症处理,同时应用阿托品治疗22例;胃镜下治疗8例;胃次全切除术5例。结果本组病例中,治愈572例,缓解36例,无效5例,死亡12例,其中阿托品治愈20例;胃镜下治愈6例;胃次全切除术治愈4例。结论预防和治疗的重点是消除颅脑损伤病灶和保护胃黏膜,常规处理方案效果满意,简单、经济且安全有效,但必要时应及时使用特殊治疗手段,以迅速控制出血病情。