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精子鞭毛形态多发畸形患者行卵细胞质内单精子注射治疗的结局分析 被引量:2
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作者 陈杰 袁贺佳 +7 位作者 崔元庆 闫伟 连花瑜 刘晓妍 张伟 刘雪梅 郝翠芳 王雄 《中华医学杂志》 CAS CSCD 北大核心 2018年第36期2914-2919,共6页
目的分析精子鞭毛形态多发畸形(MMAF)相关的重度弱精子症患者行卵细胞质内单精子注射(ICSI)助孕治疗的临床结局。方法回顾性分析烟台毓璜顶医院生殖医学科自2011年1月至2016年12月收治的15例MMAF患者的临床数据,行低渗法选择“活... 目的分析精子鞭毛形态多发畸形(MMAF)相关的重度弱精子症患者行卵细胞质内单精子注射(ICSI)助孕治疗的临床结局。方法回顾性分析烟台毓璜顶医院生殖医学科自2011年1月至2016年12月收治的15例MMAF患者的临床数据,行低渗法选择“活”精子行ICSI治疗,匹配同一治疗时间30例因梗阻性无精子症(OA)行ICSI的患者。比较两组患者夫妇双方年龄、体质指数(BMI)、不育年限、获卵数、ICSI卵子数、受精率、卵裂率、可移植胚胎率、优质胚胎率、胚胎种植率、临床妊娠率、早期流产率、单胎率及双胎率差异。结果15例MMAF患者经过27个ICSI周期,均实现临床妊娠,其中活产11例,自然流产2例,持续妊娠2例。MMAF组与OA对照组在男、女方年龄、BMI、获卵数、ICSI卵子数等基本情况差异无统计学意义(P〉0.05),但在不育年限上的差异有统计学意义(P〈0.001);MMAF组与OA对照组的ICSI受精率(92.0%比91.6%)、卵裂率(95.4%比96.5%)、优质胚胎率(56.5%比57.5%)、优质囊胚率(23/61比35/94)、胚胎种植率(20/48比35/75)、早期流产率(4/19比8/36)、临床妊娠率(15/27比28/50)、单胎率(10/13比20/25)和双胎率(3/13比5/25)差异均无统计学意义(均P〉0.05)。结论MMAF可能不影响ICSI治疗结局,但遗传缺陷也可以通过ICSI传递,是否选择胚胎植入前遗传学诊断(PGD)应在充分遗传咨询的情况下遵从患者夫妇意愿。 展开更多
关键词 鞭毛 男性不育 弱精子症 临床结局
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以继发性男性不育症起病的肯尼迪病1例患者的临床特征及遗传学分析
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作者 陈杰 靳银山 +2 位作者 张学宝 崔元庆 王雄 《中华医学遗传学杂志》 2025年第12期1496-1501,共6页
目的探讨以继发性男性不育症起病的肯尼迪病(KD)患者的临床特点和遗传学病因。方法选择2023年8月因继发性不育5年就诊于烟台毓璜顶医院确诊的1例AR基因的动态突变男性不育症KD患者(先证者)为研究对象。收集先证者的临床资料、实验室及... 目的探讨以继发性男性不育症起病的肯尼迪病(KD)患者的临床特点和遗传学病因。方法选择2023年8月因继发性不育5年就诊于烟台毓璜顶医院确诊的1例AR基因的动态突变男性不育症KD患者(先证者)为研究对象。收集先证者的临床资料、实验室及辅助检查结果。采集先证者及其6名家系成员(先证者女儿、母亲、大姐、二姐及外甥1~2)的外周血各为2 mL并提取DNA,应用全外显子组测序(WES)对先证者进行基因检测,使用生物信息学进行雄激素受体(AR)基因进行致病性分析,最后采用荧光探针PCR-毛细管电泳技术,对AR基因进行第1外显子上胞嘧啶-腺嘌呤-鸟嘌呤(CAG)变异三核苷酸重复序列分析,以检测AR基因的动态突变。本研究通过烟台毓璜顶医院伦理委员会审查(审查批号:2024-697)。结果先证者临床表现为非梗阻性无精子症,雄激素敏感性指数异常增高,阴囊超声检查提示睾丸体积小和精囊腺萎缩,WES和生物信息学分析发现先证者AR基因存在异常扩增,荧光探针PCR和毛细管电泳技术验证先证者及其外甥1的AR基因第1外显子上CAG三核苷酸重复序列的重复次数均为52次,均被诊断为KD,而且家系中先证者母亲、大姐、女儿均为该突变携带者,而先证者二姐及外甥2不携带AR基因变异。结论KD作为一种少见的X-连锁隐性遗传病,患者主要临床表现为肌无力、肌萎缩和肌束震颤,而累及生殖系统引起不育症和非梗阻性无精子症起病患者则较罕见,易被漏诊或误诊,基因检测可明确诊断该病患者,需引起临床医师重视。 展开更多
关键词 肯尼迪病 雄激素受体 X连锁延髓-脊髓萎缩症 男性不育 非梗阻性无精子症
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Electromechanical cracking in ferroelectrics driven by large scale domain switching 被引量:4
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作者 cui yuanqing YANG Wei 《Science China(Physics,Mechanics & Astronomy)》 SCIE EI CAS 2011年第5期957-965,共9页
Experimental results indicate three regimes for cracking in a ferroelectric double cantilever beam (DCB) under combined electromechanical loading. In the loading, the maximum amplitude of the applied electric field re... Experimental results indicate three regimes for cracking in a ferroelectric double cantilever beam (DCB) under combined electromechanical loading. In the loading, the maximum amplitude of the applied electric field reaches almost twice the coercive field of ferroelectrics. Thus, the model of small scale domain switching is not applicable any more, which is dictated only by the singular term of the crack tip field. In the DCB test, a large or global scale domain switching takes place instead, which is driven jointly by both the singular and non-singular terms of the crack-tip electric field. Combining a full field solution with an energy based switching criterion, we obtain the switching zone by the large scale model around the tip of a stationary impermeable crack. It is observed that the switching zone by the large scale model is significantly different from that by the small scale model. According to the large scale switching zone, the switch-induced stress intensity factor (SIF) and the transverse stress (T-stress) are evaluated numerically. Via the SIF and T-stress induced by the combined loading and corresponding criteria, we address the crack initiation and crack growth stability simultaneously. The two theoretical predictions roughly coincide with the experimental observations. 展开更多
关键词 ferroelectric ceramics large scale domain switching electromechanical loading crack initiation crack growth stability stress intensity factor transverse stress
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Large scale domain switching around the tip of an impermeable stationary crack in ferroelectric ceramics driven by near-coercive electric field 被引量:3
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作者 cui yuanqing ZHONG Zheng 《Science China(Physics,Mechanics & Astronomy)》 SCIE EI CAS 2011年第1期121-126,共6页
It is widely accepted that the singular term plays a leading role in driving domain switching around the crack tip of ferroelectric ceramics.When an applied electric field approaches or even exceeds the coercive one,h... It is widely accepted that the singular term plays a leading role in driving domain switching around the crack tip of ferroelectric ceramics.When an applied electric field approaches or even exceeds the coercive one,however,non-singular terms are no longer negligible and the switching of a large or global scale takes place.To analyze the large scale switching,one has to get a full asymptotic solution to the electric field in the vicinity of the crack tip.Take a double cantilever beam specimen as an example.The derivation of the full electric field is simplified as a mixed boundary value problem of an infinite strip containing a semi-infinite impermeable crack.The boundary value problem is solved by an analytic function and a conformal mapping to yield a full electric field solution in a closed form.Based on the full field solution,the large scale domain switching is examined.The switching zones predicted by the large and small scale switching models are illustrated and compared with each other near the tip of a stationary crack. 展开更多
关键词 ferroelectric ceramics domain switching electric field analytic function impermeable crack STRIP
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