父母MTHFR基因型对后代发生神经管畸形的影响

本研究旨在探讨父母双方MTHFR基因型与其后代发生神经管畸形风险性的关 系。采用成组匹配的病例对照研究方案,用纸片法采集病例和对照外周血标本,用PCR-RFLP方法确定基因型(C677T)。结果显示,分别比较两组父亲或母亲基因型频率时,差别不显著;将父母基因型联合起来分析则发现,病例组父母等位突变基因频率(T)高于对照组父母,提示后代是纯合突变( TT)概率越大,发生NTD的风险性也越大。结论是,父母双方的基因型对后代发生NTD的风险性有同等重要的作用,父母双方传递给胎儿的一对突变等位基因(T/T)是NTD发生的风险因素之一。 Abstract:The effect of parental MTHFR genotypes on fetal phenotype of NTD is studied.It was designed as group matched case-control study.Venous blood cases and controls were collected by dry blood spots.Genotype(C677T)of each sample was decided by PCR-RFLP method.When the genotypes of father and mother are compared separately,no significant difference is discovered between cases and controls.On the other hand,when the mutant allele frequency(T)is computed for father and mother together,it is significantly higher in cases than in controls.Higher probabilities of the offspring being homozygotes(TT),higher the risk for NTD occurrence has been observed.It is concluded that genotypes of MTHFR for both father and mother have the same impact on NTD occurrence of their offspring.It is the pair of mutant allele(T/T)which transmitted to the baby from its parents that increases the risk.     

改良颅窝减压术在Chiari畸形Ⅰ型患者中的应用及对其脑脊液动力学的影响

目的:分析改良颅窝减压术在Chiari畸形Ⅰ型患者中的应用及其对脑脊液动力学的影响。方法:收集我院2013年3月至2015年3月诊治的82例Chiari畸形Ⅰ型患者,按照抽签法分为对照组和观察组,各41例,对照组予以传统颅窝减压术,观察组予以改良颅窝减压术,比较两组临床疗效、并发症、脑脊液动力学[包含脑导管层面、脑桥腹侧平面、C3腹侧平面头端最大峰值流速(VDmax)、尾端最大峰值流速(VUmax)、每博出量(SV)]以及颅脊角变化。结果:观察组疾病控制率(95.12%)显著高于对照组(80.49%)(P0.05),并发症发生率(4.88%)低于对照组(19.51%)(P0.05)。术后,观察组脑导管层面、脑桥腹和C3腹侧平面VDmax、VUmax、SV和颅脊角、枕骨大孔径值均明显优于对照组(P0.05)。结论:改良颅窝减压术在Chiari畸形Ⅰ型患者中的临床效果值得肯定,能够改善患者的脑脊液动力学。     

巨蟹蛛一种畸形雄性触肢器记述

During examination of spider material in the Institute of Zoology,Chinese Academy of Sciences (IZCAS),one male specimen came to our attention,which showed a unique anomaly in its palp.The morphology of this specimen is documented and suggestions for further investigations are given.Material. 2 males,Zhangjiajie National Park (29 08°N,110.29°E)[reared to adult,leg.LI Shu Qiang];deposited in the Institute of Zoology,Chinese Academy of Sciences,Beijing:Araneae,Sparassidae#89.One of the males has both palps intact and belongs to a Sinopoda species,which has yet to be determined.In the other specimen only the left palp is present in a deformed state.From size and color of both specimens,it could be possible that both are conspecific.Morphology. The anomalous morphology is limited to the palpal tarsus and to the retrolateral tibial apophysis (RTA).All remaining parts of the palp show a normal expression of morphological characters(e.g.spination,size,shape).The RTA is deformed in a way as recorded for e.g.Erigone atra (Jaeger, 1995),i.e.its size is reduced and its shape is different in comparison with the intact specimen.The main anomaly refers to the bulb,on the ventral side of the male tarsus.Usually,the bulb of sparassids composed of two sclerotized parts,tegulum and subtegulum,both separated by membranous parts,the haematodochae(cf.Yin et al.,1983).The basal haematodocha connects the subtegulum to the cymbium,the dorsal part of the tarsus.The cymbium bears hairs and contains nerves,whereas the bulb does not.In Sinopoda spp.embolus and conductor arise from the tegulum (Jaeger, 1999).A sperm duct extends from a distal opening on the embolus to the inner part of tegulum and subtegulum.     

苍白拟幽灵蛛记述(蜘蛛目:幽灵蛛科)

描述苍白拟幽灵蛛Smeringopus pullidus (Blackwall,1858)雄蛛。     

双酚A对雄性小鼠生殖毒性的影响

目的观察环境雌激素双酚A（BPA）对雄性小鼠生殖功能的损害作用。方法采用小鼠腹腔注射双酚A,染毒成年小鼠5d,饲养30d。观察小鼠精子畸形率、测定血清中一氧化氮（NO）的含量、一氧化氮合酶（NOS）的活性。以雌二醇（E2）作为阳性对照物。结果BPA染毒组小鼠的精子畸形率较对照组高,睾丸和附睾的脏器系数均低于对照组,血清NO含量、NOS活性均高于对照组。结论一定剂量的BPA对小鼠的精子有致畸作用,并可使血清NO含量、NOS活性增高。     

内侧开放楔形胫骨高位截骨术治疗膝关节内翻畸形的疗效及对术后下肢力线和创伤应激的影响

摘要 目的：对比内侧开放楔形胫骨高位截骨术（OWHTO）、人工全膝关节置换术（TKA）治疗膝关节内翻畸形的疗效及对术后下肢力线和创伤应激的影响。方法：回顾性分析贵州医科大学附属医院2020年3月~2022年1月期间接收的膝关节内翻畸形患者临床资料,共计75例。根据手术方案的不同分为OWHTO组（n=40）和TKA组（n=35）。对比两组围术期指标、视觉疼痛模拟评分（VAS）评分、美国特种外科医院（HSS）膝关节评分、膝关节活动度（ROM）、应激指标和术后下肢力线改变情况。结果：OWHTO组手术时间、切口长度短于TKA组,术中出血量、住院费用少于TKA组（P<0.05）。OWHTO组术后1个月VAS评分低于TKA组,ROM、HSS膝关节评分高于对照组（P<0.05）。OWHTO组术后3 d、术后7 d血清皮质醇（COR）、促肾上腺皮质激素（ACTH）水平低于TKA组（P<0.05）。两组术后6个月股胫角（FTA）下降,髋-膝-踝角（HKA）升高（P<0.05）。两组术后6个月FTA、HKA组间对比差异不显著（P>0.05）。两组并发症发生率组间对比未见差异（P>0.05）。结论：OWHTO、TKA这两种治疗方案治疗膝关节内翻畸形,具有相当的疗效,均可有效改善下肢力线,但OWHTO的创伤小、应激程度轻。     

宝鸡、华县新石器时代人骨的错畸形

本文选宝鸡、华县发掘的新石器时代人骨中牙列较完整的颌骨标本进行观察及测量,以了解我国新石器时代人类中错(牙合)畸形的发病情况。发现在该时期的人类中已可见到多种今天常见的错(牙合)畸形。统计了错(牙合)的发病率,并对一例颜面不对称畸形标本的病理机制和病因进行了分析和讨论。     

磁共振磁敏感加权成像在颅脑疾病中的应用研究

目的探讨磁敏感加权成像在脑部疾病中的临床应用价值。方法对65例临床疑是脑血管病变患者行常规T1WI、T2WI、DWI、SWI序列及增强T1WI、MRA,探讨SWI序列在显示小出血灶、小静脉及含铁血黄素、钙化等顺磁性物质的优越性。结果①海绵状血管瘤,SWI能鉴别出血与血管,发现更多的小出血灶;②动静脉畸形,SWI能够发现更多的细小静脉向大静脉引流;③急性脑梗死,SWI可发现小的出血灶;④脑肿瘤,SWI显示出小的引流静脉;⑤帕金森病,SWI能显示脑内多发异常低信号铁沉积。结论 SWI对低流量血管畸形、小静脉结构、多发细小出血以及铁钙沉积十分敏感,为常规MRI的重要补充,应用于中枢神经系统疾病的诊断和鉴别诊断。     

彩色多普勒超声检查对胎儿颅内畸形筛查的应用价值及染色体异常分析

摘要 目的：探讨彩色多普勒超声检查对胎儿颅内畸形筛查的应用价值,并进行染色体异常分析。方法：选择2016年2月至2019年5月本院收治的进行胎儿颅内畸形筛查的高危孕妇120例,所有孕妇都给予彩色多普勒二维超声与三维超声筛查,对超声筛查异常者进行染色体异常分析,记录预后情况。结果：在120例孕妇中,二维超声诊断为胎儿颅内畸形12例,三维超声诊断为13例(预后都确诊为胎儿颅内畸形)。染色体核型筛查检出胎儿颅内畸形12例,其中21-三体综合征8例,18-三体综合征3例,13-三体综合征1例。确诊为胎儿颅内畸形的孕妇超声NT值都显著高于非胎儿颅内畸形孕妇,差异都有统计学意义(P<0.05)。孕妇选择终止妊娠10例,选择继续妊娠3例,继续妊娠3例胎儿都最终死亡。结论：产前彩色多普勒超声结合染色体核型在胎儿颅内畸形筛查中具有很高的价值,两者可互相补充,共同发挥诊断与预后评估价值。     

雄性不等单蚤生殖器官畸形二例

本报道了二例雄性不等单蚤生殖器官畸形标本,系实验室长期饲养繁殖的。导致畸形的因素难以排除近亲交配的可能．