Aim: To study the effect of Ureaplasma urealyticum (UU) infection on germ cell apoptosis of male rats. Meth-ods: Male rats were infected artificially with UU serotype 8 (T_(960)). Morphological changes of germ cells i...Aim: To study the effect of Ureaplasma urealyticum (UU) infection on germ cell apoptosis of male rats. Meth-ods: Male rats were infected artificially with UU serotype 8 (T_(960)). Morphological changes of germ cells in the sem-iniferous tubules and the lumen of the epididymides were observed under the light microscope. Fluorescence-conjugatedpolyclonal antibodies to Fas and Fas ligand (FasL) were used to localize Fas and FasL. TUNEL staining of germ cellsand Sertoli cells was performed by the AKPase method. TUNEL-positive rate (% positive cells) and TUNEL-positivearea (area occupied by stained cells) were analysed by KS400 Image Analysis System. The DNA laddering analysiswas performed by agarose gels electrophoresis. Results: In those rats infected with UU; (1) Exfoliated germ cellswere dramatically increased. Many multinucleated giant cells were found in the seminiferous tubules and the lumen ofthe epididymides. (2) The number of TUNEL-positive cells and the TUNEL-positive area were significantly increased.(3) The expression of Fas and FasL in germ cells and Sertoli cells was up-regulated. (4) Discrete bands of fragmentedDNA were found in the testicular cells. Conclusion: In male rats, germ cell apoptosis was increased in UU infec-tion . (Asian J Androl 2001 Sep; 3: 199 - 204)展开更多
目的:远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)是一组选择性累及运动神经及其神经元的退行性病变,可引起肢体远端肌肉进行性萎缩无力。总结8例dHMN先证者的临床、电生理、病理及遗传学特点,丰富我国dHMN先证...目的:远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)是一组选择性累及运动神经及其神经元的退行性病变,可引起肢体远端肌肉进行性萎缩无力。总结8例dHMN先证者的临床、电生理、病理及遗传学特点,丰富我国dHMN先证者的临床表型和基因型资料,提高临床工作者对dHMN的认识和诊治水平。方法:选择2018年6月至2019年4月于北京大学人民医院神经内科就诊的8例dHMN先证者并进而追踪其家系,回顾性分析先证者的临床症状、神经电生理改变、病理特点及基因突变情况。运用基因靶向二代测序技术对所有先证者进行周围神经病相关基因检测,通过Sanger测序验证突变位点,并对可获得的家系成员进行遗传共分离分析。结果:先证者发病年龄11~64岁,中位数39.5岁,均为慢性起病,进行性发展,主要表现为远端肢体无力,并逐渐出现肌肉萎缩。神经电生理结果示选择性运动神经损害,运动神经复合肌肉动作电位波幅下降伴神经传导速度减慢,感觉神经不受累,针刺肌电图符合神经源性损害表现。2例先证者肌肉活检显示神经源性骨骼肌损害,1例先证者腓肠神经活检提示感觉神经受累轻微。基因测序显示8例先证者携带了8种不同的已知dHMN致病基因,3例有已报道的致病突变位点,基因诊断率为37.5%,其余5例为临床意义未明的新发点突变,其中2例突变在家系内共分离。结论:dHMN是一组临床和基因均具有显著异质性的遗传性周围神经病,二代测序技术广泛运用于dHMN先证者的致病基因搜寻,但仍有超过一半的先证者不能得到明确的基因诊断。展开更多
基金supported by the National Natural Science Foundation(No 39870374)of ChinaDawn Project Foundation of Shanghai(No 99SG42).
文摘Aim: To study the effect of Ureaplasma urealyticum (UU) infection on germ cell apoptosis of male rats. Meth-ods: Male rats were infected artificially with UU serotype 8 (T_(960)). Morphological changes of germ cells in the sem-iniferous tubules and the lumen of the epididymides were observed under the light microscope. Fluorescence-conjugatedpolyclonal antibodies to Fas and Fas ligand (FasL) were used to localize Fas and FasL. TUNEL staining of germ cellsand Sertoli cells was performed by the AKPase method. TUNEL-positive rate (% positive cells) and TUNEL-positivearea (area occupied by stained cells) were analysed by KS400 Image Analysis System. The DNA laddering analysiswas performed by agarose gels electrophoresis. Results: In those rats infected with UU; (1) Exfoliated germ cellswere dramatically increased. Many multinucleated giant cells were found in the seminiferous tubules and the lumen ofthe epididymides. (2) The number of TUNEL-positive cells and the TUNEL-positive area were significantly increased.(3) The expression of Fas and FasL in germ cells and Sertoli cells was up-regulated. (4) Discrete bands of fragmentedDNA were found in the testicular cells. Conclusion: In male rats, germ cell apoptosis was increased in UU infec-tion . (Asian J Androl 2001 Sep; 3: 199 - 204)
文摘目的:远端型遗传性运动神经病(distal hereditary motor neuropathy,dHMN)是一组选择性累及运动神经及其神经元的退行性病变,可引起肢体远端肌肉进行性萎缩无力。总结8例dHMN先证者的临床、电生理、病理及遗传学特点,丰富我国dHMN先证者的临床表型和基因型资料,提高临床工作者对dHMN的认识和诊治水平。方法:选择2018年6月至2019年4月于北京大学人民医院神经内科就诊的8例dHMN先证者并进而追踪其家系,回顾性分析先证者的临床症状、神经电生理改变、病理特点及基因突变情况。运用基因靶向二代测序技术对所有先证者进行周围神经病相关基因检测,通过Sanger测序验证突变位点,并对可获得的家系成员进行遗传共分离分析。结果:先证者发病年龄11~64岁,中位数39.5岁,均为慢性起病,进行性发展,主要表现为远端肢体无力,并逐渐出现肌肉萎缩。神经电生理结果示选择性运动神经损害,运动神经复合肌肉动作电位波幅下降伴神经传导速度减慢,感觉神经不受累,针刺肌电图符合神经源性损害表现。2例先证者肌肉活检显示神经源性骨骼肌损害,1例先证者腓肠神经活检提示感觉神经受累轻微。基因测序显示8例先证者携带了8种不同的已知dHMN致病基因,3例有已报道的致病突变位点,基因诊断率为37.5%,其余5例为临床意义未明的新发点突变,其中2例突变在家系内共分离。结论:dHMN是一组临床和基因均具有显著异质性的遗传性周围神经病,二代测序技术广泛运用于dHMN先证者的致病基因搜寻,但仍有超过一半的先证者不能得到明确的基因诊断。
