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1.
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. 相似文献
2.
Lesley A. Inker Morgan E. Grams Andrew S. Levey Josef Coresh Massimo Cirillo John F. Collins Ron T. Gansevoort Orlando M. Gutierrez Takayuki Hamano Gunnar H. Heine Shizukiyo Ishikawa Sun Ha Jee Florian Kronenberg Martin J. Landray Katsuyuki Miura Girish N. Nadkarni Carmen A. Peralta Dietrich Rothenbacher Mark Woodward 《American journal of kidney diseases》2019,73(2):206-217
3.
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。 相似文献
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Histopathological characterisation of effects of the mouse Pax6 missense mutation on eye development
Thaya Ramaesh Steven E. Williams Catriona Paul Kanna Ramaesh John D. West 《Experimental eye research》2009,89(2):263-273
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 Pax6Leca4 mutation and compare them to published observations on Pax6 alleles that are functionally equivalent to Pax6− null alleles (such as Pax6Sey and Pax6Sey-Neu) and human inherited eye diseases. Ocular features of homozygous Pax6Leca4/Leca4 and heterozygous Pax6Leca4/+ embryos at E12.5-E18.5, heterozygous Pax6Leca4/+ young mice at P18 and heterozygous Pax6Leca4/+ adults at 12 weeks were analysed histologically with their wild-type Pax6+/+ littermates. Homozygous Pax6Leca4/Leca4 fetuses died perinatally with no eyes although an optic cup rudiment with pigmented cells developed. Pax6Leca4/+ mice were microphthalmic and a range of other severe ocular phenotypes affected both the anterior and the posterior segments. In contrast to Pax6+/−, the Pax6Leca4/+ 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 Pax6Leca4/+ lacked some eye abnormalities commonly seen in Pax6Sey/+ and Pax6Sey-Neu/+ eyes, in most respects their eyes were more severely affected. These differences probably reflect both differences between the Pax6Leca4 and the Pax6Sey-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 Pax6Leca4/+ ocular abnormalities were similar to those present in human Peters' anomaly and persistent hyperplastic primary vitreous (PHPV) so Pax6Leca4/+ mice provide a useful model for some inherited eye diseases. 相似文献
6.
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。 相似文献
7.
132例男性不育患者遗传学病因分析 总被引:3,自引:0,他引:3
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。 相似文献
8.
目的:比较二维超声心动图(2DE)和心电图(ECG)对心肌梗塞(MI)定位诊断的异同、优劣。方法:对59例 MI 患者进行了2DE 和 ECG 检查。在2DE 上将左室分为16个节段而分别确定与 ECG 各导联的对应关系,分别计数2DE 上室壁运动异常(WMA)节段数和 ECG 上有异常 Q 波导联所对应节段数,对比分析两种方法检查结果的一致性。结果:2DE 和 ECG 分别检出338和311个节段阳性,两种方法阳性一致率57.9%,两种方法阳性一致率在各壁的高低依次为下壁、前壁、后壁、前间隔、侧壁;两种方法检测结果的差别有显著性(P<0.05);两种方法检测结果的相关系数 r=0.595(P=0.0000)。结论:两种方法的检查结果有较好的一致性,2DE 优于 ECG。 相似文献
9.
Juan C. Kupferman Charles L. Stewart Frederick J. Kaskel Richard N. Fine 《Pediatric nephrology (Berlin, Germany)》1996,10(2):143-146
Renal and urological anomalies in Down syndrome (DS) have received little attention compared with the nephrourological findings described in other chromosomal abnormalities. Renal hypoplasia, hydroureteronephrosis, ureterovesical and ureteropelvic junction obstruction, and vesicoureteral reflux, but not posterior urethral valves, have been associated with DS. We report the occurrence of posterior urethral valves in three male infants with DS at a single institution. All had multiple urological procedures for correction or palliation of obstruction. Children with DS may have an increased risk for developing posterior urethral valves and obstructive uropathy. Furthermore, they may also develop chronic renal failure secondary to posterior urethral valves. Therefore, we suggests that infants with DS be screened with ultrasonography for renal and urological abnormalities early in life and, if abnormal, a contrast voiding cystourethrogram be performed to rule out posterior urethral valves or other bladder or urethral abnormalities. A review of the renal and urological anomalies in DS reported in the literature since 1960 is presented. 相似文献
10.