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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   
23.
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   
24.
The mechanism of the cytotoxic-negative, absorption-positive (CYNAP) phenomenon was studied using the model of the Bw49/Bw50 split of the BW21 antigen. Anti-Bw49 antibody bound 60% as well to Bw 50 as to Bw49 cells; however, even at a cytotoxic titer of 64 against Bw49 cells, the antibody was not cytotoxic to Bw50 Cells. At equal numbers of antibody molecules bound, the anti-Bw49 antibody activated C4 and C3, and induced lysis for Bw49 but not for the Bw50 cells. These data are consistent with a model in which different spatial orientations for shared epitopes can account for CYNAP reactivity for at least some selected Bw4/Bw6-associated splits of B locus antigens.  相似文献   
25.
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   
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Social media platforms have become part of many people’s lives. Users are spending more and more time on these platforms, creating an active and passive digital footprint through their interaction. This footprint has high research potential in many research areas because understanding people’s communication on social media is essential in understanding their values, attitudes, experiences and behaviors. Researchers found that the use of social networking sites impacts adolescents’ eating behavior. If we define adolescents as individuals between ages 10 and 24 (WHO’s definition), 76% of USA young people at age 18–⁠24 use Instagram, so the Instagram social network analysis is important for understanding young people’s expressions in the context of healthy food. This study aims to identify the main topic associated with healthy food on the Instagram social network via hashtag and community analysis based on 2,045,653 messages created by 427,936 individual users. The results show that users most associate Healthy food with healthy lifestyle, fitness, weight loss and diet. In terms of food, these are foods that are Vegan, Homemade, Clean and Plant-based. Given that young people change their behavior in relation to people’s behavior on social networks, it is possible to use this data to predict their future association with healthy food characteristics.  相似文献   
28.
目的探讨以工作量为基础计算手术室护士绩效的方法及效果。方法通过医院信息管理系统提取量化数据,根据"以资源为基础的相对价值比率评估系统(RBRVS)"计算手术护士工作量并转换为绩效分值。结果方案实施后整体工作时间内直接护理时间明显提升,达到总工作时间的73.22%,首台手术准时率从50.97%提高到75.11%(p<0.05),接台手术间隔时长从平均0.62小时降至0.33小时。结论建立以工作量为基础多维度评价手术护士绩效方案体现专科护士的工作特点与劳动价值,充分调动手术护士的工作积极性,有利于手术室运行效率和护士工作效率的提高。  相似文献   
29.
针对团标《日间手术中心设施建设标准》结合日间手术中心的特点,阐述了日间手术环境控制暖通空调方面的编写思路、条文要求与实施措施。  相似文献   
30.
 目的 探讨新冠肺炎疫情期间感控观察员制度在手术室的应用效果。方法 将感控观察员制度应用于手术室的诊疗活动中,制定针对疫情的手术室相关流程与指引,分别选取疫情期上班1周后的第1天(2月17日)和感控观察员管理制度实施1周后的第1天(2月24日),使用焦虑自评量表和穿脱防护用品评分表,调查手术室医务人员焦虑及防护用品穿脱合格情况,并比较感控观察员制度实施前后其差异。结果 共调查医务人员60名,两次发放问卷共120份,问卷回收有效率100%。实施前(2月17日)医务人员焦虑评分为(56.96±9.45)分,实施后(2月24日)医务人员焦虑评分为(35.02±6.21)分,差异具有统计学意义(t=14.878,P<0.001)。感控观察员制度实施前及实施后,不同职称医务人员焦虑评分比较,差异均具有统计学意义(均P<0.05)。制度实施前,初级医务人员焦虑评分低于中级与高级医务人员,差异均有统计学意义(均P<0.05)。不同职称医务人员感控观察员制度实施前后焦虑评分比较,差异均具有统计学意义(均P<0.001)。通过对全科在岗的50名护理人员分组进行穿脱防护用品操作考核评分,无感控观察员的A组防护用品穿脱合格率为40.00%(10/25),而有感控观察员监督指导的B组合格率达100.00%(25/25),B组合格率高于A组,差异有统计学意义(χ2=21.429,P<0.001)。结论 感控观察员制度能有效降低诊疗活动中医务人员心理焦虑并提高其穿脱防护用品的合格率。  相似文献   
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