1例复合杂合突变所致的凝血因子Ⅻ缺乏症家系分析

目的分析1个遗传性凝血因子Ⅻ缺乏症家系表型及基因突变情况,探讨其分子致病机制。方法对先证者及其家系进行活化部分凝血活酶时间(APTT)、凝血酶原时间(PT)、纤维蛋白原(Fib)、凝血因子Ⅻ活性(FⅫ:C)和凝血因子Ⅻ抗原(FⅫ:Ag)测定。用DNA直接测序法进行FⅫ基因突变检测。采用ClustalX-2.1-win软件分析突变氨基酸的保守性,用4个生物信息学评分软件分析突变对蛋白质功能的影响。结果先证者APTT结果明显延长,达179.2 s,先证者父亲、长子及女儿APTT略延长。先证者FⅫ:C及FⅫ:Ag明显减低,均为1%;其父亲、长子、女儿及次子FⅫ:C及FⅫ:Ag减低,约为50%。基因测序发现先证者FⅫ基因存在复合杂合突变,包括第1外显子启动子区为46T/T型,第9外显子存在c.797G>A(Cys247Tyr)及第14外显子存在c.1681G>A(Gly542Ser)。先证者父亲及长子表现为c.797G>A杂合突变,女儿及次子表现为c.1681G>A杂合突变。ClustalX-2.1-win软件保守性分析表明Cys247和Gly542在同源物种间高度保守。生物信息学评分软件分析结果表明突变可能影响蛋白质的功能。结论先证者FⅫ基因46T/T,c.797G>A和c.1681 G>A复合杂合变异导致其凝血因子Ⅻ水平极度减低。c.797G>A为首次报道,丰富了人类基因突变数据库(HGMD)。     

中药复方联合穴位敷贴治疗顽固性失眠合并高血压的90例临床疗效观察

目的：探讨中药复方联合穴位敷贴治疗顽固性失眠合并高血压的临床疗效。方法：将90例患者随机分成观察组和对照组,各45例,两组患者均给予硝苯地平缓释片口服,在此基础上,对照组给予舒乐安定口服治疗,观察组予中药复方配合中药穴位敷贴治疗,一个疗程30天后分析临床疗效情况。结果：观察组失眠疗效总有效率94%,对照组总有效率74%,两组比较差异有统计学意义(P<0.05);与本组治疗前比较,两组血压均有不同程度下降,差异具有统计学意义(P<0.05);观察组治疗后匹兹堡睡眠质量量表(PSQI)积分明显降低,与对照组治疗后比较,差异具有统计学意义(P<0.05)。结论：中药复方联合穴位敷贴治疗后,顽固性失眠合并高血压得到改善,临床疗效显著,比西医常规治疗疗效好,在临床上值得推广。     

复方次氯酸钠消毒剂对室内空气消毒效果观察

目的观察复方次氯酸钠消毒剂对室内空气消毒效果。方法采用气溶胶喷雾法和空气采样器方法进行了现场消毒效果评价并与紫外线照射消毒法作平行比较。结果用含有效氯500mg/L复方次氯酸钠消毒液按照20ml/m3用量进行气溶胶喷雾消毒,密闭作用10min,对室内空气中自然菌杀灭率为99.34%。在相同条件下用30W功率的紫外线灯照射30min,对室内空气中自然菌杀灭率为85.58%。结论复方次氯酸钠消毒剂用气溶胶喷雾法,在较低浓度下对室内空气中自然菌杀灭效果可达到消毒合格要求,比紫外线灯消毒效果好。     

Determination of Optimal Imaging Mode for Ultrasonographic Detection of Subdermal Contraceptive Rods: Comparison of Spatial Compound, Conventional, and Tissue Harmonic Imaging Methods

Objective

To determine which mode of ultrasonography (US), among the conventional, spatial compound, and tissue-harmonic methods, exhibits the best performance for the detection of Implanon® with respect to generation of posterior acoustic shadowing (PAS).

Materials and Methods

A total of 21 patients, referred for localization of impalpable Implanon®, underwent US, using the three modes with default settings (i.e., wide focal zone). Representative transverse images of the rods, according to each mode for all patients, were obtained. The resulting 63 images were reviewed by four observers. The observers provided a confidence score for the presence of PAS, using a five-point scale ranging from 1 (definitely absent) to 5 (definitely present), with scores of 4 or 5 for PAS being considered as detection. The average scores of PAS, obtained from the three different modes for each observer, were compared using one-way repeated measure ANOVA. The detection rates were compared using a weighted least square method.

Results

Statistically, the tissue harmonic mode was significantly superior to the other two modes, when comparing the average scores of PAS for all observers (p < 0.00-1). The detection rate was also highest for the tissue harmonic mode (p < 0.001).

Conclusion

Tissue harmonic mode in uS appears to be the most suitable in detecting subdermal contraceptive implant rods.     

腹腔镜联合复方棉酚片治疗卵巢子宫内膜异位囊肿临床疗效

目的探讨腹腔镜联合复方棉酚片治疗卵巢子宫内膜异位囊肿的临床疗效和安全性。方法将2009—2011年我院收治的卵巢子宫内膜异位囊肿患者120例,按照分层随机分组法分为两组,单纯腹腔镜组(A组)60例;联合治疗组(B组)60例,患者行腹腔镜术后口服复方棉酚片20 mg/d,连续服用3个月。所有患者随访1～2年,比较两组患者术后疗效、复发、妊娠情况、总主观症状评分、术后出血以及住院时间,并观察了药物的不良反应。结果 B组治疗有效率优于A组(P<0.05)。B组患者的平均总主观症状评分、手术出血量以及住院时间明显低于A组(P<0.05)。A组患者术后复发11例,B组复发2例,A组复发率明显高于B组(P<0.05)。B组患者术后妊娠率高于A组,但差异无统计学意义(P>0.05)。结论腹腔镜联合复方棉酚片治疗卵巢子宫内膜异位囊肿可提高有效率且不良反应较低,值得临床使用。     

老年复合性溃疡118例临床观察

目的探讨老年复合性溃疡临床特点。方法对118例老年复合性溃疡与396例非老年复合性溃疡作对照分析。结果老年复合性溃疡症状多不典型,幽门螺杆菌感染率高,巨大溃疡多并发出血几率大,停药后易复发(P<0.05)。结论老年复合性溃疡病情顽固,并发症较多,加深对老年复合性溃疡认识,有利于本病的诊治。     

Split‐hand phenomenon in amyotrophic lateral sclerosis: A motor unit number index study

Introduction: The split‐hand phenomenon refers to preferential wasting of the thenar muscles with relative sparing of the hypothenar muscles in amyotrophic lateral sclerosis (ALS). Methods: We compared the split‐hand index (SI) calculated from the compound muscle action potential (CMAP; SI_CMAP) with that calculated from the motor unit number index (MUNIX; SI_MUNIX). We performed MUNIX on the abductor policis brevis (APB), first dorsal interosseous (FDI), and abductor digiti minimi (ADM) muscles of 39 ALS patients and 40 age‐matched, healthy controls. SI is derived by multiplying the CMAP (or MUNIX) recorded over the APB and FDI and dividing by the CMAP (or MUNIX) recorded over the ADM. Results: Receiver‐operating characteristic curve analysis revealed good diagnostic accuracy for both indices, but better performance of SI_MUNIX than SI_CMAP. Conclusion: SI_MUNIX and SI_CMAP were useful in differentiating ALS patients from healthy controls. SI_MUNIX appears to be a better electrophysiological marker than SI_CMAP for the split‐hand sign of ALS. Muscle Nerve 53 : 885–888, 2016     

复方樟柳碱对早期糖尿病视网膜病变多焦视网膜电图的影响

目的：观察复方樟柳碱穴位注射对早期DR的多焦视网膜电图(mfERG)一阶Kernel反应的改变。

方法：连续选取Ⅰ～Ⅱ期糖尿病视网膜病变患者48例48眼,分为对照组和注射组,其中对照组采用控制血糖药物治疗,注射组除采用药物控制血糖外接受复方樟柳碱穴位注射。治疗后行多焦电生理检查,分析参数为mfERG产生的4个象限、6环以及总和反应的波形,对总和反应平均密度、P1和N1的潜伏期与振幅结果进行统计学分析。

结果：注药组和对照组P1波的总和反应平均密度为39.42±6.46、28.50±3.73nV/deg²,N1波为11.12±1.34、6.33±1.14nV/deg²。注药组P1波和N1波总和反应平均密度均高于对照组(P1：t=6.230,P<0.01; N1：t=3.526,P<0.01)。注药组SN、IN、IT和ST象限P1反应波平均密度分别为32.61±9.62、32.31±7.94、29.24±7.84、28.09±5.38nV/deg²,均高于对照组(P<0.05),各象限两组N1反应波平均密度比较均无明显差异。注药组R1～R6 P1、R1～R3 N1反应波平均密度分别为98.11±17.53、73.95±17.20、64.09±14.13、49.43±10.08、40.24±11.55、36.86±6.43、25.27±12.81、21.31±6.76、14.86±5.06nV/deg²,均高于对照组(P<0.05),两组R4～R6 N1反应波平均密度比较无明显差异。注药组IT和ST中P1和N1波幅值1.37±0.35、1.28±0.29、0.31±0.05和0.30±0.10μV,明显高于对照组(P<0.05),两组SN和IN中P1和N1波幅值差异无统计学意义。

结论：复方樟柳碱穴位注射可以改善早期DR部分视网膜功能损伤。     

复方托吡卡胺对中央角膜厚度测量的影响

目的：评价复方托吡卡胺眼液对中央角膜厚度测量的影响及影响持续的时间。方法选择拟行激光角膜屈光手术的近视眼患者120例240眼,分别于点眼前和点眼后1,4 h 用 OrbscanⅡ眼前节检查系统和非接触反射显微镜SP－2000P测量角膜厚度。结果以OrbscanⅡ测量复方托吡卡胺点眼前、点眼后1 h、点眼后4 h中央角膜厚度（CCT）分别为（545±27）,（559±31）,（544±26）μm;以SP－2000P测量分别为（508±26）,（521±29）,（506±24）μm。复方托吡卡胺点眼后1 h与点眼前与相比,2种仪器测量CCT均增加（ P＜0．01）;复方托吡卡胺点眼后4 h 与点眼后1 h 相比,2种仪器测量 CCT 均下降（ P ＜0．01）;复方托吡卡胺点眼后4 h与点眼前相比,CCT均无变化。结论复方托吡卡胺点眼1 h后使CCT增加;复方托吡卡胺对CCT影响在点眼4 h后消除。准分子激光屈光手术术前检查中,CCT的测量应在复方托吡卡胺点眼前或者点眼后4h进行。