Demirjian法在乌鲁木齐市维吾尔族未成年人年龄推断中的应用

目的:研究Demirjian法推断乌鲁木齐市3~16岁维吾尔族儿童、青少年实际年龄的适用性。方法:收集乌鲁木齐市新疆医科大学第一附属医院口腔中心符合纳入标准的年龄在3~16周岁的维吾尔族儿童、青少年口腔曲面断层片362例(男195例,女167例),按照Demirjian法记录牙齿发育指数及牙龄,并对实际年龄与Demirjian法推断的牙龄进行配对t检验,将牙齿成熟指数和年龄进行曲线拟合,初步建立两者间的数学模型。结果:直接应用用Demirjian法进行年龄评估时,其推断的年龄与实际生活年龄之间的差异有统计学意义(P0.05),牙齿成熟指数(Y)与实际年龄(X)的相关回归方程如下:Y(男)=-61.119+20.965X-0.686X2,Y(女)=-74.475+25.214X-0.901X2。结论:Demirjian法不能用于测定乌鲁木齐市3~16岁年龄段维吾尔族儿童、青少年的年龄,使用时需进行适当的修正。     

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.     

藏、汉族OSAHS患者血清低氧相关因子水平与肺动脉收缩压的相关性研究

目的:探讨藏、汉族阻塞性睡眠呼吸暂停低通气综合征(OSAHS)患者血清低氧相关因子水平与其临床指标的相关性。方法:回顾性研究。入选2017年1月至2019年12月在青海大学附属医院呼吸与危重症医学科确诊的藏、汉族OSAHS患者各30例为病例组,此外,以在青海大学附属医院体检正常的藏、汉族志愿者各30名为健康对照组,所有...     

壮族居民生命早期经历饥荒与成年后中心型肥胖的相关性研究

目的 探讨壮族居民生命早期饥荒经历与成年后中心型肥胖的关系。方法 将1 279名在1959—1961年经历饥荒的研究对象分为未经历组(1963年之后出生)、胎儿期经历组(1959—1962年出生)、儿童期经历组(1949—1958年出生)、青春期经历组(1941—1948年出生),采用二分类logistic回归模型评估壮族居民生命早期饥荒暴露与成年后中心型肥胖的关系。结果 壮族居民成年后中心型肥胖的发生率为30.88%。与未经历暴露人群相比,胎儿期暴露(OR=3.527,95%CI:1.877～6.627)和儿童期暴露(OR=2.863,95%CI:1.3297～6.167)的壮族居民成年后中心型肥胖的风险较高。结论 壮族居民生命早期经历饥荒是成年后中心型肥胖的危险因素。经历饥荒的广西壮族居民,应关注中心型肥胖发生情况,预防其他相关慢性病。     

贝尔湖附近牧区儿童氟中毒病情现状与摄氟来源

目的 确定贝尔湖附近牧区是否为氟中毒病区以及病情现状与摄氟来源。据此,制定防治地氟病的规划。方法 进行现况典型调查。调查对象为8－12周岁儿童,氟斑牙按Dean氏法诊断。饮水氟、尿氟、奶茶氟均采用氟离子选择电极法测定。结果 氟斑牙检出率：宝东为58．65％,贝尔为66．00％;尿氟含量均值,宝东为6．28mg/L,贝尔为6．56mg/L;饮水氟含量均值：宝东为5．25mg/L,贝尔为4．02mg/L;奶茶氟含量均值：宝东为5．80mg/L,贝尔为5．88mg/L。结论 贝尔湖附近牧区是一个饮水型与饮茶型相混合的氟中毒病区,以饮水型为主。