医学生学习积极主动性的民族特征研究

目的了解汉区少数民族与汉族医学生学习积极主动性的差异,为探索提高医学生学习积极主动性的干预措施提供依据。方法采用便利取样法,对中国医科大学一~四年级的248名医学生(少数民族99人,汉族149人)进行学习积极主动性问卷的调查,应用方差分析、Kruskal-Wallis H检验、t检验、聚类分析法对数据进行统计学分析。结果少数民族医学生和汉族医学生在学习积极主动性问卷的评分分别为(48.20±7.24)、(50.76±7.82),差异有统计学意义(P0.05);少数民族医学生在深入学习、控制学习、扎实学习维度得分以及学习积极主动性问卷总分显著低于汉族医学生(P均0.05)。不同年级的少数民族医学生的学习驱动力、学习目标的评分差异有统计学意义(P均0.05)。不同年级汉族医学生的学习驱动力以及学习积极主动性问卷的评分差异有统计学意义(P0.05)。医学生学习积极主动性可归为四类,其中1类学生在学习积极主动性最佳,2类和3类居中,4类最差,少数民族医学生1~4类的比例分别为9.09%、26.26%、36.36%、28.28%,汉族医学生1~4类的比例分别为18.12%、32.21%、28.19%、21.62%。结论少数民族和汉族医学生学习积极主动性的特点有共性但也存在个性的差异,医学教育工作者应结合汉族、少数民族医学生学习积极主动性的特点和规律,展开有针对性的教育,从根本上提高学生的学习积极主动性,促进学生的发展。     

Symptoms and occurrences of narcolepsy: a retrospective study of 162 patients during a 10-year period in Eastern China

ObjectiveOur study was designed to assess symptomatology and occurrences of narcolepsy in Eastern China between 2003 and 2012. Herein we report the substantial changes in the occurrence and clinical features of narcolepsy over the last decade in China.MethodsWe performed a retrospective analysis of 162 Han Chinese patients with narcolepsy at Changzheng Hospital, Shanghai, China. Clinical histories and precipitating factors were recorded, in addition to narcolepsy and H1N1 winter flu pandemic (pH1N1) occurrences at Changzheng Hospital. The occurrences also were compared between the Changzheng Hospital and the People’s Hospital, Beijing, China.ResultsIn our sample, narcolepsy occurred 1.73 times more frequently in men than in women. Most of the participants were children, which peaked to 91% in 2010. Excessive daytime sleepiness (EDS), disrupted nocturnal sleep, cataplexy, and weight gain were the four major symptoms. We found that 40% of patients had identifiable precipitating factors. The occurrence of narcolepsy in 2010 showed an approximate three-fold difference from the baseline levels at the Changzheng Hospital, which showed positive relationships with occurrences of pH1N1 in Shanghai and the occurrence of narcolepsy at the People’s Hospital.ConclusionsOur findings show the interactive effects of geography and H1N1 disease in relation to narcolepsy in Han Chinese populations, and strengthen the theoretic hypothesis that immune and mental factors facilitate the onset of narcolepsy.     

The CMYA5 gene confers risk for both schizophrenia and major depressive disorder in the Han Chinese population

Objectives. A recent genome-wide association study (GWAS) of the European population implicated the CMYA5 gene in schizophrenia. Previous functional studies showed that the CMYA5 protein can interact with DTNBP1 and PKA, providing further support for a role of CMYA5 in the pathogenesis of schizophrenia. However, this association requires additional validation in independent populations. Methods. To validate the association between CMYA5 and schizophrenia and major depressive disorder, we genotyped 16 SNPs within the CMYA5 gene and performed case–control studies in 1330 schizophrenia patients, 1045 patients with major depressive disorder, and 1235 normal controls. All patients were of Han Chinese origin. Results. rs6883197 and rs259127 were significantly associated with schizophrenia, and rs12514461, rs259127, and rs7343 were associated with major depressive disorder. Additionally, one risk haplotype of rs16877109–rs3828611 (G–G) was associated with both schizophrenia (P = 0.0000784, after correction) and major depressive disorder (P = 0.00230, after correction). Conclusions. Our findings support the idea that specific alleles and haplotype in the CMYA5 confer genetic risk for both schizophrenia and major depressive disorder in the Han Chinese population.     

维吾尔族、汉族癫痫患儿左乙拉西坦血药浓度与疗效及安全性的相关性研究

目的 研究新疆维吾尔族、汉族癫痫患儿左乙拉西坦（levetiracetam,LEV）血药浓度与临床疗效及安全性之间的相关性及差异性,同时预测可获得最佳疗效的LEV稳态谷浓度（steady valley concentration,Css）。方法 采用UPLC测定300例口服LEV的癫痫患儿的Css,分析族别对LEV Css的影响;观察其疗效和不良反应,并运用Logistic回归和受试者操作特征（receiver operating characteristic curve,ROC）曲线分析维吾尔族、汉族癫痫患儿血药浓度与疗效的关系。结果 LEV的浓度剂量比（concentration-dose ratio,CDR）结果显示其在维吾尔族、汉族患儿之间的差异均无统计学意义。2组患儿在0~4岁年龄组的CDR值差异有统计学意义（P<0.05）。2组患儿的LEV给药剂量和血药浓度均呈正相关,其中维吾尔族患儿组的相关性（r=0.628,P<0.01）优于汉族患儿组（r=0.545,P<0.01）。2组患儿LEV治疗有效率分别为78.43%,81.63%。2组患儿LEV治疗有效组与无效组的LEV Css差异均具有统计学意义（P<0.05）。Logistic回归分析发现在一定浓度范围（4.07~30.88 mg·L^-1）内,2组患儿LEV Css与疗效呈正相关。2组患儿中Css对于疗效的预判准确性均强于给药剂量。当维吾尔族患儿Css ≥ 13.15 mg·L^-1和汉族患儿Css ≥ 9.28 mg·L^-1时,其临床疗效均可得到更好的保证。结论 新疆维吾尔族、汉族癫痫患儿LEV血药浓度和临床疗效及安全性之间既存在相关性又存在不同程度的差异性,通过监测LEV Css可以提高临床疗效、避免不良反应,并为新疆癫痫患儿制订个体化给药方案提供参考。     

A novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family

The mutations in the presenilin 2 (PSEN2) gene as causes of early-onset familial Alzheimer's disease (AD) have never been reported in Asia. We conducted a phenotype and pedigree study by performing neuropathological examination and target region sequencing in a family of 3 generations. Six members in this family developed dementia in their fifth decade and died in their sixth decade. The proband was diagnosed clinically with AD, which was confirmed by an autopsy. Target region sequencing showed a novel missense mutation at codon 141 (N141Y) of the PSEN2 gene that predicts an Asparagine-to-Tyrosine substitution in the affected individuals. The result was validated by Sanger sequencing in 7 family members (2 affected and 5 unaffected). The mutation was absent in the 5 clinically unaffected relatives and 188 control subjects. No influence of the APOE genotype was observed. We are the first to demonstrate a novel PSEN2 N141Y mutation in a Chinese Han family with early-onset AD.     

Clinical profile of Parkinson's disease in the Gumei community of Minhang district,Shanghai

OBJECTIVE:

We examined the demographic and clinical profiles of Parkinson''s disease in Shanghai, China, to assist in disease management and provide comparative data on Parkinson''s disease prevalence, phenotype, and progression among different regions and ethnic groups.

METHODS:

A door-to-door survey and follow-up clinical examinations identified 180 community-dwelling Han-Chinese Parkinson''s disease patients (104 males, 76 females).

RESULTS:

The average age at onset was 65.16±9.60 years. The most common initial symptom was tremor (112 patients, 62.22%), followed by rigidity (38, 21.11%), bradykinesia (28, 15.56%) and tremor plus rigidity (2, 1.11%). Tremor as the initial symptom usually began in a single limb (83.04% of patients). The average duration from onset to mild Parkinson''s disease (Hoehn-Yahr phase 1–2) was 52.74±45.64 months. Progression from mild to moderate/severe Parkinson''s disease (phase≥3) was significantly slower (87.07±58.72 months; p<0.001), except for patients presenting initially with bradykinesia (53.83±24.49 months). Most patients (149/180, 82.78%) took levodopa with or without other drugs. The Hamilton Anxiety Scale revealed symptoms of clinical anxiety in 35 patients, and the Hamilton Depression Scale revealed depressive symptoms in 88 patients. The depressed or anxious subgroup (123 patients) demonstrated a significantly younger age at onset (55.54±7.68 years) compared with the overall mean (p<0.05).

CONCLUSION:

Unilateral limb tremor was the most common initial symptom, and motor function deteriorated slowly over ≈4−9 years. Earlier-onset patients experience greater psychiatric dysfunction.     

湘西土家族、苗族、汉族指纹白线的研究

目的:探讨湘西地区土、苗和汉族青年的指纹白线。方法:对湘西地区15~20岁的土家族、苗族和汉族男女学生共1321人的指纹白线进行了调查分析。结果:各指指纹白线出现率,土家族青年为27.59%,苗族青年为28.91%,汉族青年为28.44%,3个民族之间差异无显著性(P>0.05);各指指纹白线出现率在同一民族内为女性>男性,差异有高度显著性(P<0.001)。每人指纹白线出现率,土家族青年为29.28%,苗族青年为26.04%,汉族青年为26.74%;3个民族之间差异无显著性(P>0.05)。结论:指纹白线可出现在手的任何一指,按指纹白线在各指分布阳性率高低的顺序排列,土家族青年为Ⅲ、Ⅳ、Ⅱ、Ⅰ、Ⅴ,苗族青年为Ⅳ、Ⅲ、Ⅱ、Ⅴ、Ⅰ,汉族青年为Ⅳ、Ⅲ、Ⅱ、Ⅰ、Ⅴ,苗族和汉族青年以环指出现率最高,土家族青年以中指出现率最高。     

广东汉族的指纹研究

目的为了给体质人类学和临床医学提供基础皮纹学参数。方法印泥法采集指纹,放大镜和体视显微镜下鉴定计数。结果报道了广东地区18～21岁314例(男155人,女159人)汉族大学生的指纹参数正常值。调查和计算了指纹类型、指纹指数、指纹组合、各型指纹在各指的递减顺序和指嵴纹计数等项参数,指纹各型频率是L>W>A,其中Ws男>女(P<0.01),Wd和A女>男(P<0.01),而L则无明显性差异(P>0.05)。与其他汉族群体进行了比较,显示有不少统计学差异,在民族和人种间进行比较,显示广东汉族与其他蒙古人种(如日本人)有小的差异,而与高加索人种和尼格罗人种有极大差异。本文还对差异的可能原因进行了讨论。结论广东汉族有自己的皮纹特点,又显示蒙古人种的一般特征。     

汉族人拉莫三嗪相关过敏反应与HLA-B*1502的相关性

目的研究在汉族人中拉莫三嗪相关过敏反应是否与HLA-B*1502有相关性。方法对在郑州人民医院诊断为癫痫的患者在服用拉莫三嗪前进行HLA-B*1502测定,将服用拉莫三嗪12周后出现过敏反应者作为实验组,未出现过敏反应者作为对照组1,服用其他非芳香族抗癫痫药物出现过敏反应者为对照组2,检测对照组2的HLA-B*1502阳性率,对3组间HLA-B*1502的阳性率进行比较。结果实验组HLA-B*1502的阳性率为41.86%,对照组1为14.02%,对照组2为13.33%.实验组阳性率高于对照组1(χ2=13.86,P<0.05)及对照组2(χ2=6.83,P=0.009),对照组1与对照组2比较差异无统计学意义(χ2=0.009,P=0.924)。结论HLA-B*1502可能与汉族人拉莫三嗪相关过敏反应相关。     

The Gene Polymorphism of VMAT2 Is Associated with Risk of Schizophrenia in Male Han Chinese

ObjectiveTo investigate the association between gene polymorphism of vesicular monoamine transporter type 2(VMAT2) and schizophrenia in Han Chinese population. Methods430 patients with schizophrenia and 470 age-sex matched controls were recruited from four mental health centers. All patients were diagnosed by two psychiatrists based on the Structured Clinical Interview for DSM Disorders (SCID). The ligase detection reactions (LDR) method was used to assess the polymorphism of the two SNPs (rs363371 and rs363324) of VMAT2. ResultsNo associations of two SNPs with schizophrenia was found. When we stratified males and females for the analysis, we found that that in the recessive model of rs363371, there was an obvious significant association between rs363371 and schizophrenia in males (OR=0.564, 95% CI=0.357–0.892, p=0.014) but not females. For the association between rs363324 and schizophrenia, no association was found in either males or females. No association was found when stratifying early-onset schizophrenia and late-onset schizophrenia. ConclusionOur findings indicate that both rs363371 and rs363324 were not associated with schizophrenia, while it seemed that the AA genotype of rs363371 plays a protective effect in male Chinese in developing schizophrenia.