Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and obstructive lung disease, infertility and body axis laterality defects. We applied a next-generation sequencing approach to identify the gene responsible for this phenotype in two consanguineous families

Stillbirth differences according to regions of origin: an analysis of the German perinatal database, 2004-2007

Reeske A, Kutschmann M, Razum O, Spallek J. Stillbirth differences according to regions of origin: an analysis of the German perinatal database, 2004-2007. BMC Pregnancy and Childbirth. 2011;11(1): 63.Background: Stillbirth is a sensitive indicator for access to, and quality of health care and social services in a society. If a particular population group e. g. migrants experiences higher rates of stillbirth, this might be an indication of social deprivation or barriers to health care. This study examines differences in risk of stillbirth for women of different regions of origin compared to women from Germany in order to identify high risk groups/target groups for prevention strategies. Methods: We used the BQS dataset routinely compiled to examine perinatal outcomes in Germany nationwide. Participation of hospitals and completeness of data has been about 98% in recent years. Data on all live births and stillbirths were obtained for the period 2004 to 2007 (N = 2,670,048). We calculated crude and stratified mortality rates as well as corresponding relative mortality risks. Results: A significantly elevated stillbirth rate was found for women from the Middle East and North Africa (incl. Turkey) (RR 1.34, CI 1.22-1.55). The risk was slightly attenuated for low SES. An elevated risk was also found for women from Asia (RR 1.18, CI 1.02-1.65) and from Mediterranean countries (RR 1.14, CI 0.93-1.28). No considerable differences either in use and timing of antenatal care or preterm birth and low birthweight were observed between migrant and non-migrant women. After stratification for light for gestational age, the relative risk of stillbirth for women from the Middle East/North Africa increased to 1.63 (95% CI 1.25-2.13). When adjusted for preterm births with low birthweight, women from Eastern Europe and the Middle East/North Africa experienced a 26% (43%) higher risk compared with women from Germany. Conclusions: We found differences in risk of stillbirth among women from Middle East/North Africa, especially in association with low SES and low birthweight for gestational age. Our findings suggest a need for developing and evaluating socially and culturally sensitive health promotion and prevention programmes for this group. The findings should also stimulate discussion about the quality and appropriateness of antenatal and perinatal care of pregnant women and newborns with migrant backgrounds

26th Annual Computational Neuroscience Meeting (CNS*2017): Part 3 - Meeting Abstracts - Antwerp, Belgium. 15–20 July 2017

This work was produced as part of the activities of FAPESP Research,\ud Disseminations and Innovation Center for Neuromathematics (grant\ud 2013/07699-0, S. Paulo Research Foundation). NLK is supported by a\ud FAPESP postdoctoral fellowship (grant 2016/03855-5). ACR is partially\ud supported by a CNPq fellowship (grant 306251/2014-0)