脊髓小脑共济失调2型家系ATXN2基因中间重复病例表型与分子遗传学特征

目的探讨脊髓小脑共济失调2型(SCA2)致病基因ATXN2异常等位基因中间重复个体的表型和分子遗传学特点。方法针对2005—2018年中日友好医院神经科运动障碍与神经遗传病研究中心收集的1383个常染色体显性遗传共济失调家系的先证者和部分家系成员,采用荧光标记毛细管电泳片段分析方法进行动态突变检测,对携带ATXN2基因中间重复的个体进行临床表型和遗传特征分析。结果共检出163个家系(包含先证者和家系成员共203人)携带异常扩展的ATXN2基因CAG重复序列,其中93个家系中有107例的异常扩展等位基因重复次数在29~34次之间。在其中的20个亲子对中,父系遗传16个,异常等位基因的代间扩展增加0~28次,母系遗传4个,异常等位基因的代间扩展增加0~4次。结论对于临床拟诊SCA2家系患者,需对其亲代或成年子代个体进行ATXN2基因检测,以免漏诊。动态突变基因检测有助于识别中间重复的个体,对明确家系致病基因和遗传咨询至关重要。     

狼疮抗凝物检测在静脉血栓栓塞症中的应用进展

狼疮抗凝物是发生静脉血栓栓塞症的危险因素之一,在静脉血栓栓塞症患者中检测狼疮抗凝物,对治疗方案抉择和疗效预后判断等方面具有重要意义。目前尚无相关文献对狼疮抗凝物检测在静脉血栓栓塞症中的应用进展进行分析总结,为加深对此类患者的认识,更好地帮助临床医生对此类患者进行合理的诊治和管理,现就有关流行病学、检测注意事项及检测结果在静脉血栓栓塞症中的价值和相关治疗进行综述。     

基于“通肾络、益脾肾”治法研究足细胞凋亡及自噬

[目的]基于中医"通肾络、益脾肾"治法,探讨通络益肾方对体外高糖培养的小鼠肾小球足细胞自噬和凋亡蛋白SIRT1、BNIP3、P62、Bax表达的调控影响。[方法]成熟无特定病原体(SPF)级SD雄性大鼠40只,随机分为正常组、中药高、中、低剂量组各10只。按照人与大鼠体表面积折算方法计算出大鼠所需中药灌胃浓度:高剂量浓度4.76 g/mL、中剂量浓度2.38 g/mL、低剂量浓度1.19 g/m L,灌胃10 d取含药血清备用。足细胞分6组,正常组5.6 mmol/L葡萄糖+10%正常大鼠血清、高糖组30mmol/L葡萄糖+10%正常大鼠血清、通络益肾方含药血清高、中、低干预组30 mmol/L葡萄糖+10%高、中、低剂量大鼠血清、高渗组甘露醇24.5 mmol/L+10%正常大鼠血清。细胞培养48 h后收集,Hoechst33342荧光染色,观察各组足细胞凋亡状况及形态变化;流式细胞仪检测足细胞凋亡率;Western Blot检测细胞内自噬标志蛋白SIRT1、P62及促凋亡蛋白BNIP3、Bax表达水平。[结果]流式细胞仪检测结果显示通络益肾方中、低剂量组可降低高糖诱导的足细胞凋亡率(P0.01或P0.05),高剂量组不能改善凋亡情况(P0.05);Hoechst33342荧光染色观察结果也证实通络益肾方中、低剂量组可降低高糖诱导的足细胞凋亡率;蛋白印迹结果显示,与高糖组相比,通络益肾方中、低剂量组自噬标志蛋白SIRT1表达升高,自噬标志蛋白P62及促凋亡蛋白BNIP3、Bax蛋白表达下降(P0.05或P0.01),高剂量组SIRT1、BNIP3、P62、Bax蛋白表达未见明显改变(P0.05)。[结论]中剂量、低剂量通络益肾方能够启动细胞自噬减少高糖刺激下体外培养足细胞凋亡,降低细胞凋亡率及凋亡蛋白的表达。     

Clinical analysis of peritoneal dialysis in the treatment of rapidly progressive glomerulonephritis

Objective To observe the clinical characteristics and prognosis of patients with rapidly progressive glomerulonephritis (RPGN) caused by lupus nephritis, antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis, or primary glomerulonephritis who were treated with peritoneal dialysis (PD) and then withdrew PD because of renal recovery. Methods Data of the above patients were retrospectively analyzed. The patients were diagnosed as RPGN and received PD therapy in Kidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University from February 2009 to August 2018. The patients were divided into early withdrawal group (PD time≤183 days, n=24) and late withdrawal group (PD time＞183 day, n=24). The differences of clinical characteristics between the two groups were compared. The cumulative incidence of adverse events in both groups was analyzed using Kaplan-Meier curves. Cox proportional hazards model was used to analyze the risk factors influencing the prognosis of patients. Results Forty-eight RPGN patients were included. The median time of maintaining PD was 178(76, 378) days. Compared with the late withdrawal group, the patients in early withdrawal group had lower levels of urine volume, serum albumin and parathyroid hormone, and lower rates of gross hematuria and hypertension at the beginning of PD, and received higher rates of methylprednisolone impulse, combined immunosuppressive agents, and hemodialysis or continuous renal replacement therapy (all P＜0.05). At the time of PD withdrawal, the levels of serum creatinine, serum calcium, serum albumin and parathyroid hormone in the early withdrawal group were significantly lower than those in the late withdrawal group (all P＜0.05). The Kaplan-Meier curves showed that there was no significant difference in the cumulative survival of patients in both groups (log-rank test χ2=3.485, P=0.062). Cox regression analysis revealed serum creatinine≥209 μmol/L at the time of PD withdrawal was an independent risk factor for poor prognosis (HR=5.253，95%CI 1.757-15.702, P=0.003). Conclusions PD can be used for RPGN patients caused by lupus nephritis, ANCA-associated vasculitis and primary nephritis. Serum creatinine≥209 μmol/L at the time of PD withdrawal is an independent risk factor for poor prognosis.     

卫生职业教育中强化护生职业素质培养的途径

卫生职业教育的根本目的就是培养适应时代需要、符合职业要求的合格的护理工作者，这就要求在教育过程中突出时代特点、突出职业培养目标，运用全新的教育方式使护生明确职业素质要求，树立和培养正确的护理观念，通过有效的教育途径保证培养目标的实现。     

准分子激光屈光性角膜切削术治疗近视及近视散光临床分析

目的评价准分子激光屈光性角膜切削术治疗近视及近视散光的临床效果。方法应用准分子激光（NIDEKEC—5000型）治疗24D以下．伴或不件5D以内散光的近视眼。214只治疗眼随诊6个月以上。结果随诊1年以上的病例显示术后3个月屈光度及视力基本稳定。术后6个月时，在等值球镜度低于6D的治疗眼中，裸眼视力≥1．0者占92．04％，≥0．5为100％，80．53％的裸眼视力≥术前最佳矫正视力，99．12％的眼屈光度在预定矫正度数的±1．00D以内。低于10D的高度近视眼也有近似的疗效。214只治疗眼中操眼视力≥1．0者占78．97％，≥0．5为90．65％，72．43％的裸眼视力≥术前最佳矫正视力，88．32％的眼屈光度在预定矫正度数的±1．00D以内。6只眼（2．80％）最佳矫正视力减少2行以上，有Ⅱ级以上Haze的有7眼间（3．27％）。结论准分子激光屈光性角膜切削术治疗近视及近视散光具有很高程度的精确性和安全性，在＜10D的近视眼中更显示了良好的预测性和稳定性。     

多种底物在免疫金银染色检测抗核抗体试验中的联合应用

将多种底物联合应用于免疫金银染色检测ANA试验,与各底物单独应用比较,可明显改善检测的敏感性与核型显示。其中,两种鼠脏器印片联合应用的结果可与Hep-2细胞的结果相当,三种及四种鼠脏器印片联合应用的结果可与Hep-2细胞和一种鼠脏器印片联合应用的结果相当,且均不使正常人ANA阳性率明显升高。     

头针配体针按摩治疗中风后偏瘫112例临床观察

本文采用头针配体针按摩综合方法对112例中风后偏瘫的患者进行治疗,发现综合治疗方法优于单纯药物治疗(P<0.01),同时对该疗法的可能机理进行了探讨,并发现治疗时机的选择也尤为重要。     

中西结合治疗椎动脉型颈椎病62例临床观察

1 临床资料 本组62例中,男38例,女24例;年龄最大67岁,最小21岁,平均36岁;病程最长8 a,最短2个月,平均15个月.全部病例均有眩晕症状,常在颈部旋转或屈伸时出现或加重,伴颈枕部不适或疼痛,颈肌僵硬.伴耳鸣32例,伴恶心或呕吐23例,伴上肢麻木感15例.     

高血压病人药物治疗期间动态血压变化

目的评价高血压病人药物治疗期间２４ｈ动态血压变化。方法２６例住院的高血压病人经药物治疗４周连续３ｄ随测血压，血压正常后进入本研究。治疗前后进行２４ｈ动态血压监测。结果患者随测血压（８～９ＡＭ，３～４ＰＭ）血压恢复到正常水平，但动态血压显示在一段时间内（６～８ＡＭ，６～１１ＰＭ）平均收缩和舒张压仍明显高于正常人平均水平（Ｐ＜０．０１），而该时间段易被临床医生忽视。结论随测血压不能实际全面反映高血压病人药物治疗的疗效，２４ｈ动态血压的监测可以正确评价高血压病人药物治疗的效果并根据高血压分布的时间来调整降压药的种类和剂量。