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31.
32.

Background

Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population. However, most studies on GBA in AJ genotype only seven selected Gaucher-associated pathogenic variants rather than sequencing the whole gene, which may leave carriers of PD-associated GBA variants undiscovered.

Methods

GBA was fully sequenced using molecular inversion probes (MIPs) and Sanger sequencing in 735 AJ PD patients and 662 AJ controls, from Israel and New York. Additional AJ control data (n?=?3044) from the Inflammatory Bowel Disease Exome Portal was used.

Results

Full GBA sequencing increased the number of variants discovered by 17.4%, compared to targeted genotyping. An additional 17 PD patients were identified with GBA-associated PD. The p.E326K variant was found in 1.6% of AJ PD patients, making it the second most common PD-associated GBA variant in AJ. GBA variants were found in 18% of PD patients and 7.5% of controls (OR?=?2.7, 95%CI?=?1.9–3.8, p?<?0.0001).

Conclusion

Without full sequencing of GBA, or at minimum including p.E326K in the genotyping panel, a significant proportion of variant carriers go undiscovered and may be incorrectly assigned as non-carriers in studies or clinical trials.  相似文献   
33.
目的:观察高血压急诊快速降血压对大脑功能的影响情况。方法:监测56例病人含服 降压药前后的脑电活动和血压情况,并对所获资料进行分析。结果:2 h内收缩压(SBP)下降>5.33 kPa (40 mmHg)或舒张压(DBP)下降>4.00 kPa(30 mmHg)时,脑电图异常程度增加,θ及δ频段功率值明 显升高(P<0.01)。结论:降压急骤,可能会造成大脑功能损害  相似文献   
34.
The paper considers the limiting factors in EEG enhancement in the presence of electrosurgery interference and presents a design for a useful fibre-optic EEG monitoring instrument which is free from such problems as electrical shock (micro and macroshock), patient burns and susceptibility to electrosurgery interference associated with conventional EEG monitors.  相似文献   
35.

Introduction

The care activity of internal resident doctors is common to practically all medical and surgical training programs; however, there are no national data available regarding the situation of this activity from the perspective of the resident. The present study has sought to collect the opinion of the resident internal physicians on the health care performance and the teaching character that links them to their corresponding emergency departments, in the following areas: overall training value, appreciation of the workload, characteristics of the morning rotation, supervision or tutoring, etc.

Method

The study was performed using a questionnaire that was distributed at the national level through the network of representatives of the SEMES-MIR group of the Spanish Society of Emergency and Emergency Medicine.

Results

A total of 1083 questionnaires were collected from 38 hospitals, corresponding to a response rate of 28%. The most significant educational contribution was the general knowledge about emergency medical care and the interpretation of complementary tests, while the less significant were aspects related to pharmacoeconomics, sustainability and cost-benefit of medical and non-medical processes related to medicine Emergency. As for the burden of care during a day of continuous care, the first year residents saw a mean of 12.3 patients) (SD 2.2), the second and third year 18.1 (SD 2.2), and the older residents 14.5 (SD 2.4). Less than half (44%) of the respondents identified their supervision model as «direct», while 37.2% identified it as «semi-pyramidal». A minority (14.2%) of respondents acknowledged having been encouraged to undertake scientific activities related to emergency medicine.

Conclusions

The results of this questionnaire should serve as a basis for the future planning of new models of teaching and care for residents and emergency services, as well as to stratify the priorities of attention to the relationship between emergency services and resident physicians.  相似文献   
36.
甲襞、球结膜微循环的应急观测方法是在甲襞、球结膜微循环加权积分综合定量评价方法的基础上,保留权值为4、3的指标,同时观察血管清晰度和红细胞聚集二项指标而形成。同时提供其应急观测积分表、异常分度积分值、诊断标准,并与常规方法进行比较,证明其可以反映绝大部分流态类指标和大部分形态类指标及重要的袢周改变,没有丢失微循环重度异常的信息,保证了重度异常诊断的正确。但在大致正常、轻度异常和中度异常的诊断中应急方法部有判重的倾向,说明应急方法漏掉了一些信息,不能全面地了解微循环的改变,造成了判重的倾向。因此应急方法不能代替常规方法,只能在特定条件下应用。  相似文献   
37.
38.
Association between HLA and Japanese patients with rheumatoid arthritis   总被引:12,自引:0,他引:12  
Japanese patients with rheumatoid arthritis (RA) were observed to have a statistical association with HLA-DR4, MT3. Strong association between the clinical severity of RA and HLA was also observed. Male patients had a stronger association with HLA than female patients. Males are more resistant to RA than females. This suggested that the threshold of liability for RA is higher in males than in females. Japanese patients with RA with systemic vasculitis were negative for HLA-Bw44 and had antilymphocytotoxic autoantibody, indicating that RA with systemic vasculitis is different in etiology from RA without systemic vasculitis.  相似文献   
39.
医院作为应对突发公共卫生事件的主战场,应急医用物资保障能力至关重要。针对突发公共卫生事件中应急医用物资需求复杂、时间紧迫、专业性强等特点,从应急医用物资的产品目录、需求预判、灵活储备、动态调整和供应商考核评分机制等方面,构建了医院应急医用物资管理流程,提升了医院应对突发公共卫生事件的综合管理能力。  相似文献   
40.
ObjectivesLittle is known about emergency department (ED) utilization among the nearly 1 million older adults residing in assisted living (AL) settings. Unlike federally regulated nursing homes, states create and enforce AL regulations with great variability, which may affect the quality of care provided. The objective of this study was to examine state variability in all-cause and injury-related ED use among residents in AL.DesignObservational retrospective cohort study.Setting and ParticipantsWe identified a cohort of 293,336 traditional Medicare beneficiaries residing in larger AL communities (25+ beds).MethodsWith Medicare enrollment and claims data, we identified ED visits and classified those because of injury. We present rates of all-cause and injury-related ED use per 100 person-years in AL, by state, adjusting for age, sex, race, dual-eligibility, and chronic conditions.ResultsRisk-adjusted state rates of all-cause ED visits ranged from 100.9 visits/100 AL person-years [95% confidence interval (CI) 92.8, 109.9] in New Mexico to 162.3 visits/100 AL person-years (95% CI 154.0, 174.7) in Rhode Island. The risk-adjusted rate of injury-related ED visits ranged from 18.7 visits/100 AL person-years (95% CI 17.2, 20.3) in New Mexico to 35.7 visits/100 AL person-years (95% CI 34.7, 36.8) in North Carolina.Conclusions and ImplicationsWe observed significant variability among states in all-cause and injury-related ED use among AL residents. There is an urgent need to better understand why this variability is occurring to prevent avoidable visits to the ED.  相似文献   
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