Explore the vast range of titles available.

BackgroundSegmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated due to the wide range of phenotypes and classification issues. The genes involved are in the Notch signalling pathway, which is a key system in somitogenesis. Here we report on mutations identified in a diagnosis cohort of SDV. We focused on spondylocostal dysostosis (SCD) and the phenotype of these patients in order to establish a diagnostic strategy when confronted with SDV.Patients and methodsWe used DNA samples from a cohort of 73 patients and performed targeted sequencing of the five known SCD-causing genes (DLL3, MESP2, LFNG, HES7 and TBX6) in the first 48 patients and whole-exome sequencing (WES) in 28 relevant patients.ResultsTen diagnoses, including four biallelic variants in TBX6, two biallelic variants in LFNG and DLL3, and one in MESP2 and HES7, were made with the gene panel, and two diagnoses, including biallelic variants in FLNB and one variant in MEOX1, were made by WES. The diagnostic yield of the gene panel was 10/73 (13.7%) in the global cohort but 8/10 (80%) in the subgroup meeting the SCD criteria; the diagnostic yield of WES was 2/28 (8%).ConclusionAfter negative array CGH, targeted sequencing of the five known SCD genes should only be performed in patients who meet the diagnostic criteria of SCD. The low proportion of candidate genes identified by WES in our cohort suggests the need to consider more complex genetic architectures in cases of SDV.

Background While the global prevalence of smoking during pregnancy is 1.7%, it rises to 8.1% in Europe, where it is the main modifiable risk factor for morbidity and mortality during pregnancy. However, pregnancy is a key time to implement smoking cessation interventions, as women are more likely to adopt health-promoting behaviours during this period. Despite the availability of resources (e.g. policies, tools) and strategies (e.g. nicotine replacement therapy) to address smoking, their implementation remains neither optimal nor systematic. To address this, a multi-disciplinary multi-professional team developed the 5A-QUIT-N intervention to promote smoking cessation in pregnant women, by mobilising health professionals and optimising existing resources. Rather than creating new resources, the intervention uses existing tools and strategies and better integrates them into the pregnancy monitoring process. This article describes the development and operationalisation of the 5A-QUIT-N intervention. Methods The development of the 5A-QUIT-N intervention involved three stages. First, its components were established according to national recommendations and a final list was validated by a scientific committee. Next, obstacles and levers that could influence their implementation and effectiveness were identified through a scoping review and semi-structured interviews. The resulting data were then used to design the first version of the intervention. Results Findings from the literature and field experiences highlighted the need for better mobilisation and coordination of the existing resources. The 5A-QUIT-N intervention was developed to address these issues by improving resource organisation within each region. At the clinical level, it aims to enhance healthcare professionals’ skills in smoking cessation practices using existing resources. At the organisational level, it promotes closer coordination between perinatal and smoking cessation professionals. The involvement of local stakeholders and local resources is an integral part of the intervention, as these vary from one region to another. Conclusion This intervention was made possible thanks to the combination of a literature search, a qualitative study, and commitment from stakeholders from grassroots level upwards.

IntroductionIn 2021, among French women who smoked when they knew they were pregnant, 59% still smoked at the end of pregnancy. Support for pregnant women to stop smoking must include a structured organisational perspective. The main objective of the study is to evaluate the effectiveness of the 5A-QUIT-N organisational intervention on smoking cessation at delivery among pregnant women who smoke during pregnancy.Methods and analysisThe overarching goal of the 5A-QUIT-N intervention, which aims to organise the healthcare professionals monitoring pregnancy, specialists in addiction and tobacco use, and clinical and training tools, using the 5As method. The 5A-QUIT-N intervention will be evaluated in a pragmatic stepped-wedge cluster randomised trial. Within each cluster, during the 6 months before (control) and after (intervention) the intervention, women who smoke tobacco during pregnancy will be enrolled during their maternity stay after delivery. A transition period is planned between the control and intervention periods to deploy the intervention. All participating women will be interviewed using a heteroquestionnaire to assess smoking cessation, tobacco use monitoring by healthcare professionals and individual factors associated with tobacco use during pregnancy. The primary outcome was the point prevalence of abstinence at delivery, which is the proportion of women reporting abstinence from smoking for at least 7 days at delivery. 4200 women who smoked tobacco during pregnancy will be recruited over the entire study period (33 months) to evaluate the effectiveness. An estimated 4585 participants will be included for all aims.Ethics and disseminationThe study will be implemented in accordance with French regulations. The study including the consent process has been independently reviewed and approved by the French ethical board ‘CPP Ile de France I’ on 10 February 2022 (No CPPIDF1-2022-DI08-cat.2). The results will be disseminated on various academic and non-academic platforms. The results will be reported in international peer-reviewed journals and presented at international and national conferences.