Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.

BACKGROUND: Younger mothers are at a greater risk of having a pregnancy with gastroschisis and the risk is higher in the United Kingdom than other European countries. Gastroschisis is thought to be a vascular disruption anomaly and the aim of this study was to analyze the prevalence of other possible vascular disruption anomalies to determine whether both the younger maternal age and the UK associations also occur with these anomalies. METHODS: All pregnancies with anomalies considered potentially due to vascular disruption from January 1, 2005 to December 31, 2017 from 26 European population-based congenital anomaly registries who were members of EUROCAT were analyzed. Multilevel models were used to allow for differences between registries when analyzing associations with maternal age, year of birth and whether the registry was in the United Kingdom. RESULTS: There were 5,220 cases with potential vascular disruption anomalies, excluding chromosomal and genetic conditions, with a prevalence of 8.85 per 10,000 births in the United Kingdom and 5.44 in the other European countries. The prevalence per 10,000 births of gastroschisis (4.45 vs. 1.56) and congenital constriction bands (0.83 vs. 0.42) was significantly higher in the United Kingdom, even after adjusting for maternal age. However, transverse limb reduction defects had a similar prevalence (2.16 vs. 2.14 per 10,000). The expected increased prevalence in younger mothers was observed for vascular disruption anomalies overall and for the individual anomalies: gastroschisis and congenital constriction bands. CONCLUSION: Vascular disruption anomalies that had an increased risk for younger mothers (such as gastroschisis) had a higher maternal age standardized prevalence in the United Kingdom, while vascular disruption anomalies with weaker associations with younger mothers (such as transverse limb reduction defects) did not have an increased prevalence in the United Kingdom, which may indicate a different etiology for these anomalies

Institutional effects on nurses’ working conditions: a multi-group comparison of public and private non-profit and for-profit healthcare employers in Switzerland

Background: In response to the need for competitive recruitment of nurses resulting from the worldwide nursing shortage, employers need to attract and retain nurses by promoting their competitive strengths in their working conditions (WCS) and by addressing their competitive weaknesses. This study investigated workplace differences between public hospitals (PuHs), private for-profit hospitals (PrHs), socio- medical institutions (SOMEDs), home care services (HCs), private medical offices (PrOs) and non-profit organisations (NPOs), helping to provide a foundation for competition-oriented institutional employer branding and to increase transparency in the labour market for nurses. Methods: Data from the Swiss Nurses at Work study of the career paths of 11 232 nurses who worked in Switzerland between 1970 and 2014 were subjected to secondary analysis, assessing the effect of institutional characteristics on self-reported determinants of job satisfaction (such as WCS) using multivariate linear regression and post hoc tests with Bonferroni-adjusted significance levels. Principal component analysis was used to reduce the number of WCS in the original study. Results: Nurses at PuHs and PrHs were less likely to experience autonomy, flexibility of work hours and participation in decision-making than those at other workplaces. Although PuHs were rated higher than PrHs in terms of satisfaction with salary and advancement opportunities, they were associated with more alienating work factors, such as stress and aggression. SOMED workplaces were significantly more often associated with alienating conditions and low job satisfaction, but were rated higher than the other institutions in terms of participation in decision-making. The nurses’ ratings implied that PrO workplaces were more likely to offer a mild work environment, social support and recognition than other institutions, but that advancement opportunities were limited. NPO workplaces were associated with the highest degree of autonomy, flexibility, participation, recognition, organisational commitment and job satisfaction. In these respects, HC and NPO workplaces received similar ratings, although the HC workplaces were associated with a significantly lower organisational commitment and significantly lower job satisfaction. Conclusions: Due to their structural characteristics, NPOs, SOMEDs and HCs can attract nurses seeking greater self-determination, PuHs can attract career-oriented nurses, and PrOs and PrHs are likely to attract nurses through offering less-stressful working conditions

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts’ maps could uncover functionally and clinically related genes.Molecular Psychiatry advance online publication, 31 May 2016; doi:10.1038/mp.2016.84