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1.
目的探讨脊髓小脑共济失调2型(SCA2)致病基因ATXN2异常等位基因中间重复个体的表型和分子遗传学特点。方法针对2005—2018年中日友好医院神经科运动障碍与神经遗传病研究中心收集的1383个常染色体显性遗传共济失调家系的先证者和部分家系成员,采用荧光标记毛细管电泳片段分析方法进行动态突变检测,对携带ATXN2基因中间重复的个体进行临床表型和遗传特征分析。结果共检出163个家系(包含先证者和家系成员共203人)携带异常扩展的ATXN2基因CAG重复序列,其中93个家系中有107例的异常扩展等位基因重复次数在29~34次之间。在其中的20个亲子对中,父系遗传16个,异常等位基因的代间扩展增加0~28次,母系遗传4个,异常等位基因的代间扩展增加0~4次。结论对于临床拟诊SCA2家系患者,需对其亲代或成年子代个体进行ATXN2基因检测,以免漏诊。动态突变基因检测有助于识别中间重复的个体,对明确家系致病基因和遗传咨询至关重要。 相似文献
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Elizabeth D. Krebs Robert B. Hawkins J. Hunter Mehaffey Clifford E. Fonner Alan M. Speir Mohammed A. Quader Jeffrey B. Rich Leora T. Yarboro Nicholas R. Teman Gorav Ailawadi 《The Journal of thoracic and cardiovascular surgery》2019,157(4):1533-1542.e2
Objectives
Expedient extubation after cardiac surgery has been associated with improved outcomes, leading to postoperative extubation frequently during overnight hours. However, recent evidence in a mixed medical-surgical intensive care unit population demonstrated worse outcomes with overnight extubation. This study investigated the impact of overnight extubation in a statewide, multicenter Society of Thoracic Surgeons database.Methods
Records from 39,812 patients undergoing coronary artery bypass grafting or valve operations (2008-2016) and extubated within 24 hours were stratified according to extubation time between 06:00 and 18:00 (day) or between 18:00 and 6:00 (overnight). Outcomes including reintubation, mortality, and composite morbidity-mortality were evaluated using hierarchical regression models adjusted for Society of Thoracic Surgeons predictive risk scores. To further analyze extubation during the night, a subanalysis stratified patients into 3 groups: 06:00 to 18:00, 18:00 to 24:00, and 24:00 to 06:00.Results
A total of 20,758 patients were extubated overnight (52.1%) and were slightly older (median age 66 vs 65 years, P < .001) with a longer duration of ventilation (4 vs 7 hours, P < .001). Day and overnight extubation were associated with equivalent operative mortality (1.7% vs 1.7%, P = .880), reintubation (3.7% vs 3.4%, P = .141), and composite morbidity-mortality (8.2% vs 8.0%, P = .314). After risk adjustment, overnight extubation was not associated with any difference in reintubation, mortality, or composite morbidity-mortality. On subanalysis, those extubated between 24:00 and 06:00 exhibited increased composite morbidity-mortality (odds ratio, 1.18; P = .001) but no difference in reintubation or mortality.Conclusions
Extubation overnight was not associated with increased mortality or reintubation. These results suggest that in the appropriate clinical setting, it is safe to routinely extubate cardiac surgery patients overnight. 相似文献5.
Nicholas E. Anton Tomoko Mizota Lava R. Timsina Jake A. Whiteside Erinn M. Myers Dimitrios Stefanidis 《American journal of surgery》2019,217(2):266-271
Introduction
Several studies demonstrated that simulator-acquired skill transfer to the operating room is incomplete. Our objective was to identify trainee characteristics that predict the transfer of simulator-acquired skill to the operating room.Methods
Trainees completed baseline assessments including intracorporeal suturing (IS) performance, attentional selectivity, self-reported use of mental skills, and self-reported prior clinical and simulated laparoscopic experience and confidence. Residents then followed proficiency-based laparoscopic skills training, and their skill transfer was assessed on a live-anesthetized porcine model. Predictive characteristics for transfer test performance were assessed using multiple linear regression.Results
Thirty-eight residents completed the study. Automaticity, attentional selectivity, resident perceived ability with laparoscopy and simulators, and post-training IS performance were predictive of IS performance during the transfer test.Conclusions
Promoting automaticity, self-efficacy, and attention selectivity may help improve the transfer of simulator-acquired skill. Mental skills training and training to automaticity may therefore be valuable interventions to achieve this goal. 相似文献6.
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In this paper, we introduce a new type of troubled-cell indicator to improve
hybrid weighted essentially non-oscillatory (WENO) schemes for solving the hyperbolic conservation laws. The hybrid WENO schemes selectively adopt the high-order
linear upwind scheme or the WENO scheme to avoid the local characteristic decompositions and calculations of the nonlinear weights in smooth regions. Therefore,
they can reduce computational cost while maintaining non-oscillatory properties in
non-smooth regions. Reliable troubled-cell indicators are essential for efficient hybrid
WENO methods. Most of troubled-cell indicators require proper parameters to detect
discontinuities precisely, but it is very difficult to determine the parameters automatically. We develop a new troubled-cell indicator derived from the mean value theorem
that does not require any variable parameters. Additionally, we investigate the characteristics of indicator variable; one of the conserved properties or the entropy is considered as indicator variable. Detailed numerical tests for 1D and 2D Euler equations are
conducted to demonstrate the performance of the proposed indicator. The results with
the proposed troubled-cell indicator are in good agreement with pure WENO schemes.
Also the new indicator has advantages in the computational cost compared with the
other indicators. 相似文献
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Emma J. Kilford Iroise Dumontheil Nicholas W. Wood Sarah-Jayne Blakemore 《Social cognitive and affective neuroscience》2015,10(6):777-782
The catechol-O-methyltransferase (COMT) enzyme is a major determinant of prefrontal dopamine levels. The Val158Met polymorphism affects COMT enzymatic activity and has been associated with variation in executive function and affective processing. This study investigated the effect of COMT genotype on the flexible modulation of the balance between processing self-generated and processing stimulus-oriented information, in the presence or absence of affective distractors. Analyses included 124 healthy adult participants, who were also assessed on standard working memory (WM) tasks. Relative to Val carriers, Met homozygotes made fewer errors when selecting and manipulating self-generated thoughts. This effect was partly accounted for by an association between COMT genotype and visuospatial WM performance. We also observed a complex interaction between the influence of affective distractors, COMT genotype and sex on task accuracy: male, but not female, participants showed a sensitivity to the affective distractors that was dependent on COMT genotype. This was not accounted for by WM performance. This study provides novel evidence of the role of dopaminergic genetic variation on the ability to select and manipulate self-generated thoughts. The results also suggest sexually dimorphic effects of COMT genotype on the influence of affective distractors on executive function. 相似文献
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