TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis

To investigate frequency and phenotype of TNFRSF1A and MEFV mutations in childhood-onset multiple sclerosis (MS). Twenty-nine clinically well characterized patients were investigated for mutations in exons 2, 3, 4, and 6 of the TNFRSF1A gene and in exons 2, 3, 9, 10 of the MEFV gene. Standardized morbidity ratio (SMR) was used to assess whether the number of observed mutations was higher than expected. Eleven out of 29 patients tested positive for mutations. Heterozygosity for the TNFRSF1A R92Q (rs4149584) variant was found in 6/11 mutation-positive patients. The SMR for R92Q in our pediatric MS population was 4.6 (95% CI 1.7–10.0), 7.0 (95% CI 2.6–15.2), and 13.6 (95% CI 5.0–29.7), depending on reference population. Six patients carried at least one heterozygous MEFV mutation with SMRs of 21.4 (95% CI 7.9–46.6) and 14.6 (95% CI 5.4–31.9). Clinical characteristics of childhood MS patients with or without mutations did not differ significantly. Conclusion One third of our childhood MS patients had a heterozygous mutation in the TNFRSF1A and/or MEFV gene. This proportion by far exceeds the number of mutations expected and was higher than in adult MS patients, suggesting that these mutations might contribute to the pathogenesis of childhood MS.     

1975～1995年乌鲁木齐石油化工厂职工恶性肿瘤死亡状况分析

目的：调查和分析从事石油化工作业职工恶性肿瘤死亡状况。方法：资料由石油化工厂人事部门提供，死因按ＩＣＤ－９分类，标化死亡率按１９６４年第二次全国人口普查资料计算，病例均为一、二级诊断。结果：该厂２１年间各种死因的年平均死亡率为１５６．５８／１０万，其中恶性肿瘤在全死因位次占第一位，恶性肿瘤死亡率随年龄而上升，不同民族恶性肿瘤死亡率不同（χ２＝６．６７，Ｐ＜０．０５）。结论：石油化工厂职工白血病死亡率超过参照人群，其ＳＭＲ＝１５１，Ｐ＜０．０１，表明该厂职工患白血病的危险性增高。     

Instrumental conditioning of human sensorimotor rhythm (12-15 Hz) and its impact on sleep as well as declarative learning

STUDY OBJECTIVES: To test whether instrumental conditioning of sensorimotor rhythm (SMR; 12-15 Hz) has an impact on sleep parameters as well as declarative memory performance in humans. DESIGN: Randomized, parallel group design SETTING: 10 instrumental conditioning sessions, pre- and posttreatment investigation including sleep evaluations PARTICIPANTS: 27 healthy subjects (13 male) Interventions: SMR-conditioning (experimental group) or randomized-frequency conditioning (control group); declarative memory task before and after a 90-min nap MEASUREMENT AND RESULTS: The experimental group was trained to enhance the amplitude of their SMR-frequency range, whereas the control group participated in a randomized-frequency conditioning program (i.e., every session a different 3-Hz frequency bin between 7 and 20 Hz). During pre- and posttreatment the subjects had to attend the sleep laboratory to take a 90-min nap (2:00-3:30 pm) and to perform a declarative memory task before and after sleep. The experimental design was successful in conditioning an increase in relative 12-15 Hz amplitude within 10 sessions (d = 0.7). Increased SMR activity was also expressed during subsequent sleep by eliciting positive changes in different sleep parameters (sleep spindle number [d = 0.6], sleep onset latency [d = 0.7]); additionally, this increased 12-15 Hz amplitude was associated with enhancement in retrieval score computed at immediate cued recall (d = 0.9). CONCLUSION: Relative SMR amplitude increased over 10 instrumental conditioning sessions (in the experimental group only) and this "shaping of one's own brain activity" improved subsequent declarative learning and facilitated the expression of 12-15 Hz spindle oscillations during sleep. Most interestingly, these electrophysiological changes were accompanied by a shortened sleep onset latency.     

COHORT STUDY ON ASSOCIATION OF SMOKING AND AIR POLLUTION WITH LUNG CANCER AMONG 210，000 PERSONS IN SHANGHAI

ＣＯＨＯＲＴＳＴＵＤＹＯＮＡＳＳＯＣＩＡＴＩＯＮＯＦＳＭＯＫＩＮＧＡＮＤＡＩＲＰＯＬＬＵＴＩＯＮＷＩＴＨＬＵＮＧＣＡＮＣＥＲＡＭＯＮＧ２１０，０００ＰＥＲＳＯＮＳ　ＩＮ　ＳＨＡＮＧＨＡＩＤｅｎｇＪｉｅ１；邓杰；ＧａｏＹｕｔａｎｇ；高玉堂；ＷａｎｇＺｈ...     

X-ray structure of EmrE supports dual topology model

EmrE, a multidrug transporter from Escherichia coli, functions as a homodimer of a small four-transmembrane protein. The membrane insertion topology of the two monomers is controversial. Although the EmrE protein was reported to have a unique orientation in the membrane, models based on electron microscopy and now defunct x-ray structures, as well as recent biochemical studies, posit an antiparallel dimer. We have now reanalyzed our x-ray data on EmrE. The corrected structures in complex with a transport substrate are highly similar to the electron microscopy structure. The first three transmembrane helices from each monomer surround the substrate binding chamber, whereas the fourth helices participate only in dimer formation. Selenomethionine markers clearly indicate an antiparallel orientation for the monomers, supporting a "dual topology" model.     

淄博矿区煤矿尘肺死亡回顾性队列研究

应用回顾性队列研究方法对淄博矿区１２个煤矿１９７７年１月１日在册的２０３７例煤矿尘肺的死因进行了调查。队列成员追访至１９８６年，共死亡４４３人，煤矿尘肺全死因死亡率为２４０８．８／１０万，与用山东省居民死亡率计算的期望值比较显著超高，ＳＭＲ＝２３５，９５％ＣＩ＝２１４～２５８。４非恶性呼吸道疾病（主要是尘肺病）死亡为全死因之首，占２５．１％，其次是恶性肿瘤、心血管疾病和肺结核。恶性肿瘤死亡明显超高，ＳＭＲ＝１９０，且主要集中于肺癌（占５９．２％，ＳＭＲ＝５５６），与呼吸道疾病相关的肺心病ＳＭＲ＝１９０，以及肺结核ＳＭＲ＝１００６的死亡率也明显超高。在掘进工和采煤工尘肺中，全死因、呼吸系疾病、恶性肿瘤、肺结核的死亡率显著增高，Ｐ＜０．０１。此外，在掘进工尘肺中心血管疾病，尤其是肺心病的死亡人数高于预期值（ＳＭＲ＝２７１，Ｐ＜０．０１）。     

Patterns of mortality in a cohort of workers followed during 28 years: the Manresa study

INTRODUCTION AND OBJECTIVES: To describe mortality patterns in a cohort of workers followed for 28 years, to estimate possible trends, and to compare the findings with those for the general population. SUBJECTS AND METHOD: The cohort included 1059 healthy male workers aged 30 to 59 years and followed for 28 years. Physical examinations and structured interviews were carried out every 5 years. Deaths were recorded from death certificates. The standardized mortality ratio (SMR) was calculated using sex- and age-specific mortality rates for the Catalan population as a reference for the same time period. RESULTS: The number of observed deaths in this cohort was 259 (24%). The main causes of death were cardiovascular diseases (n = 90, 35%) and cancer (n = 90, 35%). No excess mortality was observed in the cohort in comparison to the general population. All-cause mortality was lower, and cause-specific mortality was lower than or similar to rates in the general population. Overall, 382 deaths were expected, resulting in a significantly lower standardized mortality ratio of 67.7% (95% CI: 59.7%-76.5%). CONCLUSIONS: The patterns of mortality in this cohort of male workers were similar to those in the general population. Total mortality was lower than expected--evidence of the "healthy worker effect" which was particularly strong during the early part of the follow-up period.