泰安市流行性出血热(EHF)发病季节和人群分布

在这篇文章中,应用圆形分布法计算了泰安市1984—1985两年流行出血热的发病平均日期,分别为1984年11月5号和1985年11月11号,两年合计的平均发病日期为11月9号。另外,还分析了发病的年龄和职业。这将为预防工作提供准确的科学数据。     

Effect of impact exercise on bone mineral density in elderly women with low BMD: a population-based randomized controlled 30-month intervention

Evidence of the effect of exercise on bone loss comes mainly from studies in voluntary postmenopausal women, and no population-based, long-term interventions have been performed. The purpose of this population-based, randomized, controlled trial was to determine the effect of long-term impact exercise on bone mass at various skeletal sites in elderly women with low bone mineral density (BMD) at the radius and hip. Participants ( n =160) were randomly assigned to 30 months either of supervised and home-based impact exercise training or of no intervention. The primary outcome measures were femoral neck, trochanter and total hip BMD, and the secondary outcomes were bone density measures at the radius and calcaneum. Outcomes were assessed at baseline, 12 months and 30 months using blinded operators. The analyses were performed on an intention-to-treat analysis. Mean femoral neck and trochanter BMD decreased in the control group [–1.1%, 95% confidence interval (CI) –0.1% to –2.1% and –1.6%, 95% CI –0.4% to –2.7%], while no change occurred in the exercise group. Mean trochanter BMC decreased more in the control group (–7.7%, 95% CI –9.7% to –5.6% vs. –2.9%, 95% CI –5.3 to –0.9). There were six falls that resulted in fractures in the exercise group and 16 in the control group during the 30-month intervention ( P =0.019). A significant bone loss occurred in both groups at the radius and calcaneum. In multivariate analysis, weight gain was associated with increased BMD and BMC at all femur sites both in the exercise group and in the pooled groups. In conclusion, impact exercise had no effect on BMD, while there was a positive effect on BMC at the trochanter. Exercise may prevent fall-related fractures in elderly women with low bone mass.There was no conflict of interest.     

Cerebellar ataxia in the eastern and southern parts of Norway

Introduction –  The relative frequencies of different ataxias vary among different ethnic and geographic groups. The aim of this study was to examine patients with cerebellar ataxia and find the occurrence of autosomal dominant and recessive cerebellar ataxias in the population of the southern and eastern parts of Norway and estimate its prevalence.
Materials and methods –  Probands were systematically tested for spinocerebellar ataxia 1, 2, 3, 6 and Friedreich's ataxia. A total of 94 patients with ataxia were assessed.
Results –  We registered 60 patients from 39 unrelated families with hereditary ataxias. One family with SCA2 (two patients), one family with Friedreich's ataxia (two patients), two patients heterozygote for Friedreich's ataxia and one metabolic ataxia were identified.
Conclusions –  We have few Friedreich's ataxia and SCA 1,2,3 and 6 in our population. Prevalence in Oslo County was estimated at 2.2/100,000 for autosomal recessive and 3.0/100,000 for autosomal dominant ataxia, respectively.     

Genetics in multiple sclerosis: past and future perspectives

The enormous development in the field of molecular genetics during the last decades has lead to optimism concerning the possibilities for identifying the causes of multiple sclerosis (MS) through genetic studies. However, we have learned that dense mapping of large sample sets is needed, which only can be achieved through large collaborative studies. The contribution from each yet unidentified gene is probably weaker than that of the well established human leukocyte antigen association. The ultimate goal of the search for susceptibility genes in MS is to develop diagnostic tools and better treatments that can prevent or reduce the development of symptoms of this often devastating disease.     

Early onset Alzheimer's disease in a South American pedigree from Argentina

We report the clinical, SPET, immunohistochemical and DNA features of an early-onset familial Alzheimer's disease (FAD) in an Argentine pedigree of South American indian ethnic background. Pedigree spans 5 generations comprising more than 110 biological relatives. Clinical data supported the diagnosis of early onset FAD (mean age at onset 38.9 years) in 10 family members, including 3 with pathological confirmation (mean age at death 48.5). The pattern of transmission suggested autosomal dominant inheritance. Prominent features were mood changes, early language impairment, myoclonus, seizures and cerebellar signs. SPET displayed bilateral frontal, temporo-parietal and cerebellar hypoperfusion in early stages and in an asymptomatic member at risk, suggesting that SPET may have predictive value in this family. Immunohistochemistry showed β amyloid deposits within neuritic plaques and vessel walls and no anti-PrP immunoreactivity. DNA analysis showed no abnormalities in the β amyloid precursor protein gene. The identification of additional genetic defects in well characterized independent FAD pedigrees will contribute to the understanding of the pathogenesis of Alzheimer's disease.     

胃癌D17S261和D17S799位点二核苷酸重复序列不稳定性的意义

目的研究二核苷酸重复序列不稳定性〔ＤＲＳＩ〕在胃癌发生中的作用及其临床意义．方法采用ＰＣＲ方法检测了Ｄ１７Ｓ２６１和Ｄ１７Ｓ７９９位点二核苷酸重复序列不稳定性．结果胃癌总ＤＲＳＩ发生率为３４％（１７／５０），其中高中分化腺癌ＤＲＳＩ阳性率（６６７％，１０／１５）显著高于低分化癌（１９４％，６／３１，Ｐ＜００１）；肠型胃癌ＤＲＳＩ阳性率（５５６％，１０／１８）显著高于胃型胃癌（２０％，６／３０，Ｐ＜００５），ＤＲＳＩ与胃癌部位、大小、浸润、分期、淋巴结转移无显著相关．结论ＤＲＳＩ在胃癌的发生中可能起重要作用．     

苯作业工人白细胞降低者的总估校正现患率

选择乡镇工业苯作业工人４次外周血白细胞计数中的间隔半年的两次数据，应用俘获再俘获法，计算其白细胞降低者的总估校正现患率（ＡＣＰＲ）。结果苯接触组为３６．８ｌ％（２９．１４％～４４．４８％），对照组为１２．７１％（７．２０％～１８．２２％）具有显著差异，其相对危险度为２，９。用常规法求得的４次检出率分别是：苯接触组为２６．３７％，１８．７３％，２７．９３％，３６．７６％；对照组为６。８５％，７．３８％，７．９４％，１５．００％。均在其ＡＣＰＲ之９５％可信限内，可见ＡＣＰＲ计算方法简便、结果准确，值得推广。对于稳定的人群，可用其每年一次的健康监护资料计算ＡＣＰＲ。     

The Lewis blood group--a new genetic marker of ischaemic heart disease.

In a cohort of 3383 men aged 53 to 74 in the Copenhagen Male Study we investigated the association between ischaemic heart disease (IHD) and the Lewis blood group, assigned to chromosome 19. Among men with the Le(a-b-) phenotype, 8% had a history of non-fatal myocardial infarction, among others the frequency was 4%. The corresponding odds ratio was (95% confidence interval: CI) 1.9 (1.2-3.0) P < 0.01, men with Le(a-b-) had a risk-factor profile and pattern of disease resembling that of Reaven's syndrome X. In a subsequent prospective study 343 men with arteriosclerotic stigmas were excluded. The men had their morbidity and mortality recorded over the next 4 years. One-hundred-and-one men suffered IHD; 26 dying from IHD. In total 162 men died. Men with Le(a-b-) had an increased risk of death from IHD compared with others. Adjusted for age, relative risk (RR) (95% CI) was: 4.4 (1.9-10.3), P < 0.001, and for all causes of mortality: RR = 1.6 (1.0-2.6), P < 0.05. Men with the Le(a-b-) phenotype had an increased risk of an IHD event compared to men with other phenotypes (RR = 1.6 (0.9-2.8), P = 0.10) and a significantly higher IHD case fatality rate (RR = 2.8 (1.5-5.2), P = 0.01). The finding that the Le(a-b-) phenotype is a genetic marker of IHD risk may have implications in terms of prevention. The Le(a-b-) phenotype may also contribute to providing an explanation for the substantial ethnic differences found in the incidence of IHD. The similar risk-factor profile and pattern of disease found between Le(a-b-) men and individuals with Reaven's syndrome X is hypothesized to be due to a close genetic relationship on chromosome 19.     

中国汉族群体D4S111位点的遗传多态性研究

目的：研究中国汉族群体中α艾杜糖苷酶基因Ｄ４Ｓ１１１位点的遗传多态性。方法：采用扩增片段长度多态性（ＡｍｐＦＬＰ）分析技术，检测了广州地区汉族无血缘关系健康个体９７名。结果：Ｄ４Ｓ１１１位点，在９７名无关个体中发现５个等位基因和９种基因型，等位基因片段长度为８３０～５１０ｂｐ，基因频率为０００５２～０３６０８，ＰＩＣ为０５９６６，杂合性为０７８。结论：中国汉族群体中Ｄ４Ｓ１１１位点具有高度多态性，并与其它种族间存在差异性。