儿童语言发展迟缓成因的个案特征

目的:关注幼儿的早期语言教育,寻找语言发育迟缓成因。方法:采用访谈、跟踪观察的方式了解语言发育迟缓儿童语言发育现状,并对该病成因进行分析。结果:复杂的语言环境、内心的自我封闭以及父母不合理的教养态度是导致该儿童语言发展迟缓的主要原因。结论:单一的语言环境有利于该儿童语言的发展。     

采血者针刺伤的调查及危险因素分析

针刺伤在采血工作中经常发生，其危害大，后果严重，一般情况下还没有引起人们足够的重视。我国是肝炎的高流行区，近年来艾滋病在我国的发病率呈倍增的趋势。血液污染的针刺伤是导致血站采血人员发生血源性传染病最主要的职业因素。作者从实际工作出发，收集相关资料，系统的阐述了针刺伤的发生因素及预防措施等，并结合相关理论提出了一系列的措施和建议。     

变温培养对泰乐菌素发酵的影响

在泰乐菌素发酵过程中的不同阶段采用不同的培养温度,通过实验考察其对泰乐菌素发酵的影响。实验结果表明,变温培养的发酵水平要高于其它恒温培养的发酵水平。     

初次吸毒者与复吸者戒毒期间生活质量比较

目的:了解包头市初次吸毒者与复吸者戒毒期间的生活质量。方法:用QOL-DA2.0量表对戒毒人员的生活质量进行调查。结果:初次吸毒者与复吸者各纬度进行t检验显示躯体功能纬度(t=10.51)、心理功能纬度(t=5.94)、症状及毒副作用纬度(t=6.41)、社会功能纬度(t=10.47)和总分(t=10.48)均有统计学意义(P<0.001),表明戒毒期间初次吸毒者的生活质量高于复吸者。结论:在戒毒期间初次吸毒者的生活质量较复吸者易改善。     

BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study.

After reported associations of variations in the BMP-2 gene with osteoporosis in small populations, we studied the association of the BMP-2 gene polymorphisms Ser37Ala and Arg190Ser with osteoporosis in 6353 men and women from the Rotterdam Study. We did not observe an association of these variants with BMD, bone loss, hip structural analysis parameters, and fracture risk. INTRODUCTION: Bone morphogenetic protein 2 (BMP-2) plays a role in osteoblast differentiation. BMP-2 gene variation has previously been associated with osteoporosis in various small populations, but current evidence remains inconclusive about the exact association with osteoporosis. Therefore, we studied the association of two polymorphisms located in the BMP-2 gene (Ser37Ala and Arg190Ser) and haplotypes defined by these polymorphisms with BMD, rates of bone loss, parameters of hip structural analysis (HSA), and fractures in the Rotterdam Study, a large prospective cohort study of diseases in the elderly. MATERIALS AND METHODS: Databases were searched for polymorphisms and haplotype blocks in the BMP-2 gene region. Allele frequencies for Ser37Ala and Arg190Ser were determined in 60 blacks and 110 Chinese from Coriell panels. Genotype data on Ser37Ala and Arg190Ser were available for 6353 individuals from the Rotterdam Study population. Haplotype alleles defined by Ser37Ala and Arg190Ser were inferred using PHASE software. Genotype and haplotype analyses for BMD (measured at the lumbar spine and femoral neck), bone loss per year (measured at the femoral neck), and HSA were performed using AN(C)OVA. Fractures were analyzed using a Cox proportional-hazards model and logistic regression. All outcomes were adjusted for age, height, and weight. RESULTS: Allele frequencies were 2.5% for Ala37 and 40.2% for Ser190, whereas haplotype allele frequencies were 57.28% (Ser37Arg190), 40.19% (Ser37Ser190), 2.50% (Ala37Arg190), and 0.02% (Ala37Ser190). For BMD, bone loss, HSA outcomes, and (incident) fractures, no differences could be seen between genotype and haplotype groups. Conclusions: In this large population-based cohort of Dutch whites, we conclude that the BMP-2 Ser37Ala and Arg190Ser polymorphisms or haplotypes thereof are not associated with parameters of osteoporosis.     

PINK1 mutations in sporadic early-onset Parkinson's disease.

Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon-intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population.