Exome sequencing has recently identified mutations in the gene TANGO2 (transport and Golgi organization 2) as a cause of developmental delay associated with recurrent crises involving rhabdomyolysis, cardiac arrhythmias, and metabolic derangements. The disease is not well understood, in part as the cellular function and subcellular localization of the TANGO2 protein remain unknown. Furthermore, the clinical syndrome with its heterogeneity of symptoms, signs, and laboratory findings is still being defined. Here, we describe 11 new cases of TANGO2‐related disease, confirming and further expanding the previously described clinical phenotype. Patients were homozygous or compound heterozygous for previously described exonic deletions or new frameshift, splice site, and missense mutations. All patients showed developmental delay with ataxia, dysarthria, intellectual disability, or signs of spastic diplegia. Of importance, we identify two subjects (aged 12 and 17 years) who have never experienced any overt episode of the catabolism‐induced metabolic crises typical for the disease. Mitochondrial complex II activity was mildly reduced in patients investigated in association with crises but normal in other patients. In one deceased patient, post‐mortem autopsy revealed heterotopic neurons in the cerebral white matter, indicating a possible role for TANGO2 in neuronal migration. Furthermore, we have addressed the subcellular localization of several alternative isoforms of TANGO2, none of which were mitochondrial but instead appeared to have a primarily cytoplasmic localization. Previously described aberrations in Golgi morphology were not observed in cultured skin fibroblasts.
Occupational groups such as firefighters, military officers, paramedics and police officers are exposed to a combination of acute, severe and accumulated everyday stress. Drawing on the daily hassles perspective on stress, the aim was to synthesize existing research on daily hassles in professional first responder settings into a theoretical model. A systematic mixed studies review with an integrated design was undertaken. The selection process resulted in 40 articles meeting the inclusion criteria. The selected papers represented two literature reviews, one qualitative study, eight longitudinal studies and 29 cross-sectional studies. Five superior categories emerged in the analysis: Individual antecedent and continuously framing factors, Environmental antecedent and continuously framing factors, Appraisal and coping processes, Daily hassles and Outcome. Suggestions for future research are presented.
The aim of this study was to investigate whether constructive or destructive leadership behaviors are the best predictors of soldiers' experienced meaningfulness of work and general job satisfaction. Data were collected among 300 employed soldiers using a questionnaire. The questionnaire contained questions about the immediate leader's constructive and destructive leadership, meaningfulness of work and general job satisfaction. The results show that the constructive leadership factor inspiration and motivation was the best predictor of both experienced meaningfulness of work and general job satisfaction. None of the destructive leadership factors gave a significant contribution to the models although both the passive and active forms of destructive leadership showed a weak to moderate significant, negative correlation with experienced meaningfulness of work and general job satisfaction.
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