Cholecystectomy reduces subsequent cholangiocarcinoma risk in choledocholithiasis patients undergoing endoscopic intervention

BACKGROUNDCholangiocarcinoma is a disease with a high mortality rate. Our previous study revealed that cholelithiasis patients who undergo endoscopic sphincterotomy (ES)/endoscopic papillary balloon dilatation are at a higher risk for subsequent cholangiocarcinoma than cholelithiasis patients who undergo cholecystectomy.AIMTo clarify the relationship between recurrent biliary events and subsequent cholangiocarcinoma risk in choledocholithiasis patients.METHODSFrom one million random cases in the Taiwan National Health Insurance Research Database 2004–2011, we selected symptomatic choledocholithiasis patients older than 18 years who were admitted from January 2005 to December 2009 (study group). Cases for a control group were defined as individuals who had never been diagnosed with cholelithiasis, matched by sex and age in a 1:3 ratio. The study group was further divided into ES/endoscopic papillary balloon dilatation, both ES/endoscopic papillary balloon dilatation and cholecystectomy, and no intervention groups.RESULTSWe included 2096 choledocholithiasis patients without previous intervention or cholangiocarcinoma. A total of 12 (2.35%), 11 (0.74%), and 1 (1.00%) subsequent cholangiocarcinoma cases were diagnosed among 511 ES/endoscopic papillary balloon dilatation patients, 1485 patients with no intervention, and 100 ES/endoscopic papillary balloon dilatation and cholecystectomy patients, respectively. The incidence rates of recurrent biliary event were 527.79/1000 person-years and 286.69/1000 person-years in the subsequent cholangiocarcinoma and no cholangiocarcinoma group, showing a high correlation between subsequent cholangiocarcinoma risk and recurrent biliary events.CONCLUSIONCholedocholithiasis patients who undergo further cholecystectomy after ES/endoscopic papillary balloon dilatation have decreased subsequent cholangiocarcinoma risk due to reduced recurrent biliary events.     

两个肢带型肌营养不良2D型家系SGCA基因遗传分析和产前诊断

目的对中国汉族肢带型肌营养不良2D(limb-girdle muscular dystrophy type 2D,LGMD2D)型的2个家系进行SGCA基因分析,明确病因并在此基础上为该家系中的胎儿进行产前诊断,提供遗传咨询与指导。方法回顾性收集2017年6月至2018年1月在郑州大学第一附属医院就诊的2个LGMD2D型家系,提取先证者和其父母的外周血,通过探针杂交技术对先证者LGMD相关21个基因编码区及其侧翼序列进行高通量测序,进一步采用Sanger测序和/或荧光定量聚合酶链反应对先证者父母目标基因区域进行检测,同时验证变异来源;明确先证者病因后,进一步对家系中胎儿进行产前诊断。结果家系1:先证者存在SGCA基因c.218C>G(p.P73R)和c.101G>A(p.R34H)复合杂合变异;产前诊断结果显示,胎儿与先证者一样同时遗传了父母双方的致病变异,胎儿父母选择终止妊娠。家系2:先证者携带SGCA基因c.218C>T(p.P73L)和该基因第7和第8外显子杂合缺失复合杂合变异,但胎儿不携带上述两变异,家属选择继续妊娠。胎儿足月分娩,随访至2岁,肌酶谱、体格、运动和智力发育均未见异常。结论SGCA基因复合杂合突变是2个LGMD2D型家系的致病原因,其中c.218C>G(p.P73R)、c.218C>T(p.P73L)为尚未报道的新突变。基于高通量测序可快速、准确地对该病进行基因诊断和产前诊断。     

The influence of processed total non-forward and non-motile sperm count on the outcome of artificial insemination with the husband’s semen

BackgroundArtificial insemination with the husband’s semen (AIH) is an economical and noninvasive method of infertility treatment. However, AIH’s pregnancy rate is much lower than in vitro fertilization (IVF) as its multiple and complex uncertainty factors. Semen quality has been one of the main factors which affect the pregnancy outcome of AIH.MethodsThe relevant parameters of 1,142 AIH cycles were retrospectively studied, including the general parameters and the semen quality parameters among clinical pregnancy, biochemical pregnancy, non-pregnancy group, age, infertility duration, infertility type, body mass index (BMI), cycle count, morphology in previously semen examination, and semen quality parameters on the day of AIH.ResultsThe statistically significant difference was only found on processed total non-forward and non-motile sperm count (N-TFMSC). The mean processed N-TFMSC in the biochemical pregnancy group was 6.37±4.27 million, significantly higher than the other two groups (vs. 4.40±3.15 million or vs. 4.48±3.60 million, P<0.05). The study was then divided into two groups according to processed N-TFMSC, Group 1 ≤5.0 million, and Group 2 >5.0 million. A statistical increase in biochemical pregnancy rate was observed when the processed N-TFMSC was >5.0 million (2.72% vs. 0.90%).ConclusionsProcessed N-TFMSC may be one of the independent factors on AIH’s outcome; it should be given equal attention the same as processed total forward motile sperm count (TFMSC).     

Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy

Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of motor neurons in the anterior horn of the spinal cord, accompanied by muscle wasting. Pathomechanically, SMA is caused by low levels of the survival motor neuron protein (SMN) resulting from the loss of the SMN1 gene. However, emerging research extends the pathogenic effect of SMN deficiency beyond motor neurons. A variety of metabolic abnormalities, especially altered fatty acid metabolism and impaired glucose tolerance, has been described in isolated cases of SMA; therefore, the impact of SMN deficiency in metabolic abnormalities has been speculated. Although the life expectancy of these patients has increased due to novel disease-modifying therapies and standardization of care, understanding of the involvement of metabolism and nutrition in SMA is still limited. Optimal nutrition support and metabolic monitoring are essential for patients with SMA, and a comprehensive nutritional assessment can guide personalized nutritional therapy for this vulnerable population. It has recently been suggested that metabolomics studies before and after the onset of SMA in patients can provide valuable information about the direct or indirect effects of SMN deficiency on metabolic abnormalities. Furthermore, identifying and quantifying the specific metabolites in SMA patients may serve as an authentic biomarker or therapeutic target for SMA. Here, we review the main epidemiological and mechanistic findings that link metabolic changes to SMA and further discuss the principles of metabolomics as a novel approach to seek biomarkers and therapeutic insights in SMA.     

An Integrated Method with PROMETHEE and Conflict Analysis for Qualitative and Quantitative Decision-Making: Case Study of Site Selection for Wind Power Plants

Cognitive Computation - Multiple-criteria decision-making is common in our daily life. The probabilistic linguistic term set is an effective tool to represent both simple and cognitive complex...     

基于微信平台的翻转课堂在神经病学教学中的应用

目的　探讨基于微信平台的翻转课堂在神经病学教学中的应用及其效果。方法　以浙江中医药大学滨江学院2014级临床医学专业学生为教学对象，设一班、三班共74名学生为实验组，二班38名学生为对照组。选择周围神经病、神经肌肉-接头疾病为教学内容，实验组采用翻转课堂教学，并利用微信平台进行课前预习、课后复习和互动交流；对照组采用传统教学。两组学生课前和课后分别进行微测试、不记名问卷调查；课程结束后统一进行期末考试，其中包含病例分析题，记录并分析每组学生期末考试和病例分析题成绩。所有数据用SPSS 20.0处理，行t 检验或卡方检验。结果　实验组学生的课后微测试成绩明显高于对照组（P=0.038）；期末考试成绩高于对照组（P=0.046），且期末考试中病例分析题得分高于对照组（P=0.026）。课前问卷调查显示，在学习内容了解程度和预习情况的评价上，实验组选择“良”的学生比例高于对照组（P<0.05）。课后问卷调查显示，实验组在学习兴趣的评价中选择“优”“良”的学生比例均高于对照组（P<0.05）；自学能力评价中选择“良”的学生比例、临床思维能力和教学满意度评价中选择“优”的学生比例均高于对照组（P<0.05）；且实验组在所有项目评价中选择“优”“良”的学生总体比例均高于对照组（P<0.05）。课后实验组学习兴趣评价中选择“优”“良”的学生总体比例高于课前（P<0.01）。结论　基于微信平台的翻转课堂在神经病学教学中的应用可行且有效，可弥补传统教学的不足，有助于提高学生的学习兴趣和自主学习能力、锻炼学生的临床思维，值得推广。     

血清TRAb IgG亚型在甲状腺相关性眼病患者中的特征及临床意义

目的探讨血清TRAb IgG各亚型在不同活动分期甲状腺相关性眼病(thyroid-associated ophthalmopathy,TAO)患者中的分布特点,及其在评估TAO活动度中的价值。方法选取2018年8月至2019年2月郑州大学第一附属医院收治的TAO患者43例,依据临床活动度评分(clinical activity score,CAS)进一步分为活动期组(AP组,CAS≥3分,22例)和静止期组(IP组,CAS<3分,21例);Graves病患者(GD组)30例,桥本甲状腺炎患者(HT组)19例,并以同期健康体检者(NC组)50名作为正常对照。收集各组受试者临床基本资料,化学发光免疫法检测血清FT3、FT4、TSH、甲状腺过氧化物酶抗体(TPOAb)、甲状腺球蛋白抗体(TgAb)、促甲状腺激素受体抗体(TRAb)水平,酶联免疫吸附法检测血清TRAb IgG和IgG各亚型的百分结合率[binding rate in percentage,(B)],比较各亚型的阳性率和阳性亚型的相对含量。结果(1)与HT组相比,TAO组、GD组IgG1、IgG2阳性率降低,差异有统计学意义(P<0.05)。各疾病组间TRAb IgG亚型相对含量无明显差异(P>0.05)。(2)与IP组相比,AP组IgG1(B)、IgG1阳性率显著升高,IgG4(B)、IgG4相对含量显著降低(P<0.05)。(3)IgG1(B)与TAO活动度呈正相关(B=6.190,P=0.007),IgG4(B)越高越倾向于静止期,但差异无统计学意义(B=-16.390,P=0.052)。(4)活动率评估TAO处于活动期的受试者工作特征(ROC)曲线下面积为0.859(95%CI 0.746~0.973,P<0.05),当活动率为4.29时,约登指数最大,其判断敏感度为81.8%,特异度为81.0%。结论在TAO患者中血清TRAb IgG1水平升高提示疾病趋向活动期,IgG4水平升高提示疾病趋向静止期。活动率可为评估TAO是否处于活动期提供参考依据。