高乳酸血症-卒中样发作综合征型线粒体脑肌病一家系两代四例报告

线粒体脑肌病属于罕见性母系遗传病，本文回顾性分析了1家4例高乳酸血症-卒中样发作综合征（MELAS）型线粒体脑肌病患者，其主要表现为卒中样发作、头痛、癫痫、高乳酸血症、肌肉不耐受疲劳、高级智能下降、听力下降和身材矮小等，结合特征性影像学变化、基因检测及肌肉活检明确诊断，并结合文献对只有女儿能将其线粒体DNA（mt-DNA）传递给下一代的母系遗传MELAS型线粒体脑肌病临床特点进行了总结分析，旨在帮助临床认识此病，进一步提高MELAS型线粒体脑肌病的临床诊断率。     

不同药物方案治疗儿童双相情感障碍疗效比较及代谢指标观察

目的 探讨儿童双相情感障碍经不同药物方案治疗后代谢指标的变化及治疗疗效。方法 回顾性分析2017年1月至2020年1月于该院就诊的220例儿童双相情感障碍患儿的临床资料。根据治疗方法分组，单纯采用非典型抗精神病药物治疗的112例患儿纳入对照组，采用非典型抗精神病药物联合心境稳定剂治疗的108例患儿纳入研究组。比较两组基线资料水平，治疗前后代谢指标空腹胰岛素（FIN）、糖化血红蛋白（HbAlc）、总胆固醇（TC）、三酰甘油（TG）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）水平变化，以及代谢综合征发生情况及临床疗效。结果 两组患儿年龄、性别、病程等基线资料比较差异均无统计学意义（P > 0.05）。研究组总有效率为92.6%，高于对照组（82.1%，P < 0.05）。治疗前，两组FIN、HbAlc水平比较差异无统计学意义（P > 0.05）；治疗后，对照组FIN水平高于治疗前，且高于研究组（P < 0.05）；但研究组治疗前后FIN水平比较差异无统计学意义（P > 0.05）；两组治疗前后HbAlc水平比较差异无统计学意义（P > 0.05）。治疗前，两组TC、TG、HDL-C、LDL-C水平比较，差异无统计学意义（P > 0.05）；治疗后，对照组TC、TG水平均高于治疗前，且高于研究组（P < 0.05）；但研究组治疗前后TC、TG水平比较差异无统计学意义（P > 0.05）；两组治疗前后HDL-C、LDL-C水平比较差异无统计学意义（P > 0.05）。研究组代谢综合征发生率（2.8%）低于对照组（9.8%）（P < 0.05）。结论 儿童双相情感障碍采用非经典抗精神病药物联合心境稳定剂治疗对代谢指标水平影响较小，且疗效显著。     

A comparison between cognitive and affective job insecurities

Abstract

Background

Cognitive and affective job insecurity are compared in six aspects related to employment: job loss, worsening of tasks, schedule, salary and workplace, and difficulties over finding an alternative job (also known as labor market insecurity). Methods: Cross-sectional study. Data comes from the third Spanish Psychosocial Risks Survey (2016) which is a representative sample of the Spanish salaried population. Results: Affective responses are more variable than cognitive ones resulting in a low degree of answer concordance (IC95% Kappa = 0.08–0.13 to 0.18–0.23). There is a significant percentage of workers (22.5–50.3%) highly concerned about their future despite perceiving low probabilities of experiencing the specific insecurity threat, except for the labor market insecurity question. Conclusion: The differences observed in the degree of insecurity between the affective and the cognitive forms confirm that they are measuring different components of the insecurity construct. These differences are partly due to the economic situation of their households.     

Depressive symptom trajectories associated with standard and accelerated rTMS

BackgroundTo determine if an accelerated rTMS protocol results in distinct depressive symptom response trajectories, compared to a standard rTMS protocol. We also sought to validate previous analyses that identified distinct depressive symptom response trajectories with rTMS treatment using an external dataset.MethodData from two recent clinical trials comparing accelerated rTMS protocol delivered to the left dorsolateral prefrontal cortex (DLPFC) with standard once-daily rTMS protocol were used to identify depressive symptom response trajectories. The accelerated protocol in Trial 1 was conventional 10-Hz rTMS, while Trial 2 employed intermittent theta burst stimulation (iTBS). Participants were adult outpatients (18–70 years old) with bipolar or unipolar depression and moderate-severe depression (Montgomery Asberg Depression Rating Scale score >19) who had failed to respond to adequate courses of two different antidepressants. We used group-based trajectory modeling to identify MADRS response trajectories, and regression techniques adjusting for baseline depressive symptom severity to determine the association between treatment protocol and depressive symptom response trajectory.ResultsTreatment outcomes of 189 participants were analysed. We identified four distinct response trajectories: “nonresponse” (N = 59; 30.7%), “minimal response” (N = 65; 34.1%), “higher symptoms, response” (N = 26; 14.6%), “lower symptoms, response” (N = 39; 20.6%). We failed to find an association between rTMS protocol (accelerated vs standard) with depressive symptom response trajectory even after adjusting for baseline depressive symptom severity.ConclusionThe accelerated rTMS protocol in this study did not impact depressive symptom response trajectories. This work provides further confirmatory evidence that there are distinct depressive symptom response trajectories with rTMS delivered to the left DLPFC.Australian new zealand clinical trials registryACTRN12616000443493 and ACTRN12613000044729.     

On estimands arising from misspecified semiparametric rate-based analysis of recurrent episodic conditions

Marginal rate-based analyses are widely used for the analysis of recurrent events in clinical trials. In many areas of application, the events are not instantaneous but rather signal the onset of a symptomatic episode representing a recurrent infection, respiratory exacerbation, or bout of acute depression. In rate-based analyses, it is unclear how to best handle the time during which individuals are experiencing symptoms and hence are not at risk. We derive the limiting value of the Nelson-Aalen estimator and estimators of the regression coefficients under a semiparametric rate-based model in terms of an underlying two-state process. We investigate the impact of the distribution of the episode durations, heterogeneity, and dependence on the asymptotic and finite sample properties of standard estimators. We also consider the impact of these features on power in trials designed to test intervention effects on rate functions. An application to a trial of individuals with herpes simplex virus is given for illustration.     

Enabling the return-to-work process among people with affective disorders: A multiple-case study

Background: The Individual Enabling and Support (IES) model is an adapted, supported employment program developed to meet motivational, cognitive and time-use needs of people with affective disorders. Vocational programs for this target group have been developed but more knowledge is needed about the important characteristics and perceived usefulness of the programs. The aim of this study was to illustrate the IES model and process from multiple perspectives.

Methods: Five participants were included in this multiple-case study. The material comprised interviews with participants, intervention documents, memos and interviews with employment specialists. Within and cross-case analyzes and an analytical generalization were performed.

Results: The cases illustrated different IES processes, and the theme; Enabling engagement in return to work (RTW) was formulated. Continuous support from the employment specialist and a focus on personal resources and motivation were essential to overcome low self-confidence regarding RTW. Motivational, cognitive and time-use strategies gave an opportunity to learn new behavior and coping strategies for job seeking, getting employed and working.

Conclusion: Providing a combination of these strategies integrated with supported employment could promote self-efficacy and engagement in the RTW process among people on sick leave due to an affective disorder.