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Cadre de la recherche : Au moment de la première vague de COVID-19, les pratiques dans les maternités françaises sont hétérogènes et les restrictions concernent essentiellement la présence des accompagnants et l’imposition du port du masque. Objectifs : Nous avons analysé les effets de la pandémie sur l’organisation des soins dans la Maison de naissance de l’ouest (MaNaO) à la Réunion, ainsi que les vécus des sages-femmes, des femmes et de leur famille ayant accouché. Méthodologie : En 2021 et 2022, dans le cadre de la recherche MaterCovid-19 (ANR), nous avons réalisé une monographie avec des observations participantes et des entretiens semi-directifs (n=34) auprès de sages-femmes et de femmes, dans la maison de naissance MaNaO, sur l’île de la Réunion. Résultats : Nos résultats montrent que si la crise sanitaire a renforcé la médicalisation des espaces dans la maison de naissance, MaNaO a été présentée par les femmes et les sages-femmes comme un lieu préservé de la pandémie, ou une « bulle sans COVID ». Grâce au caractère humain et intime du suivi global, à la philosophie et à l’accès indépendant de la structure permettant de garantir à chaque femme d’être accompagnée lors de ses examens et le jour de son accouchement, ainsi qu’au retour précoce à domicile, caractéristique de cette structure, la maison de naissance a réussi à protéger les femmes et les familles du choc psychologique et parfois déshumanisant de la crise sanitaire. Conclusion : Cette recherche souligne que les revendications actuelles des femmes et des familles ne concernent pas uniquement une demande de dé-médicalisation, mais aussi la préservation du caractère familial de l’accouchement. Elle met également de l’avant la nécessité absolue de renforcer la sécurité émotionnelle des femmes.Contribution : Alors que les maisons de naissances sont en cours d’expérimentation en France, les résultats de cette recherche pourront contribuer au débat sociétal et politique.

Research Framework: During the first wave of COVID-19, practices in French maternity hospitals were heterogeneous, and restrictions mainly concerned the presence of accompanying persons and the requirement to wear a mask. Objectives : We analyzed the impacts of the pandemic on the organization of care in the MaNaO birthing center on the island of Reunion, as well as the experiences of midwives, women who gave birth and their families. Methodology: In 2021 and 2022, as part of the MaterCovid-19 research project (ANR), we carried out a study involving participatory observation and semi-structured interviews (n=34) with midwives and women at the birthing center, called MaNaO, on the island of Reunion. Results: Our results show that while the health crisis has reinforced the medicalization of birth center spaces, MaNaO has been described by women and midwives as a pandemic-proof place, or a “COVID-free bubble”. Thanks to the human and intimate nature of all the care provided, the philosophy and independent access to the facility, which guarantees that every woman is supported during her examinations and on the day of delivery, as well as the early return home that is characteristic of this facility, the birth center has succeeded in protecting women and their families from the psychological and sometimes dehumanizing shock of the health crisis. Conclusions : This research highlights the fact that the current demands from women and their families are not just about de-medicalization, but also about preserving the family nature of childbirth. It also points to the absolute necessity of reinforcing women’s emotional security.Contributions : At a time when birthing centers are being tested in France, the results of this research could contribute to the social and political debate.

Conservation units (CUs) are important tools for supporting the implementation of standardized management practices for exploited species. Following the adoption of the Wild Salmon Policy in Canada, CUs were defined for Pacific salmon based on characteristics related to ecotype, life history and genetic variation using microsatellite markers as indirect measures of local adaptation. Genomic data sets have the potential to improve the definition of CUs by reducing variance around estimates of population genetic parameters, thereby increasing the power to detect more subtle patterns of population genetic structure and by providing an opportunity to incorporate adaptive information more directly with the identification of variants putatively under selection. We used one of the largest genomic data sets recently published for a nonmodel species, comprising 5662 individual Coho salmon ( Oncorhynchus kisutch ) from 149 sampling locations and a total of 24,542 high‐quality SNPs obtained using genotyping‐by‐sequencing and mapped to the Coho salmon reference genome to (1) evaluate the current delineation of CUs for Coho in Canada and (2) compare patterns of population structure observed using neutral and outlier loci from genotype–environment association analyses to determine whether separate CUs that capture adaptive diversity are needed. Our results reflected CU boundaries on the whole, with the majority of sampling locations managed in the same CU clustering together within genetic groups. However, additional groups that are not currently represented by CUs were also uncovered. We observed considerable overlap in the genetic clusters identified using neutral or candidate loci, indicating a general congruence in patterns of genetic variation driven by local adaptation and gene flow in this species. Consequently, we suggest that the current CU boundaries for Coho salmon are largely well‐suited for meeting the Canadian Wild Salmon Policy's objective of defining biologically distinct groups, but we highlight specific areas where CU boundaries may be refined.

The use of venoarterial extracorporeal membrane oxygenation (VA-ECMO) as a cardiocirculatory support has tremendously increased in critically ill patients. Although fluid therapy is an essential component of the hemodynamic management of VA-ECMO patients, the optimal fluid resuscitation strategy remains controversial. We performed a scoping review to map out the existing knowledge on fluid management in terms of fluid type, dosing and the impact of fluid balance on VA-ECMO patient outcomes. A literature search within PubMed and EMBASE was conducted from database inception to April 2024. We included all studies involving critically ill adult patients, supported by VA-ECMO regardless of clinical indication (cardiogenic shock or extracorporeal cardiopulmonary resuscitation) with or without Renal Replacement Therapy and describing fluid resuscitation strategies or focusing on fluid type or reporting the impact of fluid balance on clinical outcomes and mortality. Details of study population, ECMO indications, fluid types, resuscitation strategies, fluid balance and outcome measures were extracted. Sixteen studies met inclusion criteria, including 14 clinical studies and two experimental animal studies. We found a lack of studies comparing restrictive and liberal approaches. No study has compared the efficacy and safety of balanced and saline solutions. The place of albumin, as an alternative fluid, should be investigated. Despite their heterogeneity, studies found a negative impact of both early and cumulative fluid overload on survival and renal outcomes. The available literature on the fluid management in VA-ECMO setting is scarce. More high-quality evidence is needed regarding optimal fluid dosing, type and resuscitation endpoints in order to standardize practice and improve outcomes. [Display omitted] •There is a significant amount of data to support the negative impact of fluid overload on survival and kidney outcomes in VA-ECMO patients.•There is no evidence on the optimal fluid resuscitation strategy in VA-ECMO patients in terms of volume and type.•There is no data comparing balanced versus unbalanced solutions in VA-ECMO setting. There is no evidence to support the use of albumin as a first line resuscitation fluid.

Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been published, and the phenotype has still not been well characterized. We sought to further characterize the phenotypic spectrum of this condition by describing the clinical features of patients with a pure 2p25.3 microduplication that includes all or part of MYT1L. We assessed 16 new patients with pure 2p25.3 microduplications recruited through a French national collaboration (n = 15) and the DECIPHER database (n = 1). We also reviewed 27 patients reported in the literature. For each case, we recorded clinical data, the microduplication size, and the inheritance pattern. The clinical features were variable and included developmental and speech delays (33%), autism spectrum disorder (ASD, 23%), mild-to-moderate intellectual disability (ID, 21%), schizophrenia (23%), or behavioral disorders (16%). Eleven patients did not have an obvious neuropsychiatric disorder. The microduplications ranged from 62.4 kb to 3.8 Mb in size and led to duplication of all or part of MYT1L; seven of these duplications were intragenic. The inheritance pattern was available for 18 patients: the microduplication was inherited in 13 cases, and all parents but one had normal phenotype. Our comprehensive review and expansion of the phenotypic spectrum associated with 2p25.3 microduplications involving MYT1L should help clinicians to better assess, counsel and manage affected individuals. MYT1L microduplications are characterized by a spectrum of neuropsychiatric phenotypes with incomplete penetrance and variable expressivity, which are probably due to as-yet unknown genetic and nongenetic modifiers.

BackgroundDespite the availability of whole exome (WES) and genome sequencing (WGS), chromosomal microarray (CMA) remains the first-line diagnostic test in most rare disorders diagnostic workup, looking for copy number variations (CNVs), with a diagnostic yield of 10%–20%. The question of the equivalence of CMA and WES in CNV calling is an organisational and economic question, especially when ordering a WGS after a negative CMA and/or WES.MethodsThis study measures the equivalence between CMA and GATK4 exome sequencing depth of coverage method in detecting coding CNVs on a retrospective cohort of 615 unrelated individuals. A prospective detection of WES-CNV on a cohort of 2418 unrelated individuals, including the 615 individuals from the validation cohort, was performed.ResultsOn the retrospective validation cohort, every CNV detectable by the method (ie, a CNV with at least one exon not in a dark zone) was accurately called (64/64 events). In the prospective cohort, 32 diagnoses were performed among the 2418 individuals with CNVs ranging from 704 bp to aneuploidy. An incidental finding was reported. The overall increase in diagnostic yield was of 1.7%, varying from 1.2% in individuals with multiple congenital anomalies to 1.9% in individuals with chronic kidney failure.ConclusionCombining single-nucleotide variant (SNV) and CNV detection increases the suitability of exome sequencing as a first-tier diagnostic test for suspected rare Mendelian disorders. Before considering the prescription of a WGS after a negative WES, a careful reanalysis with updated CNV calling and SNV annotation should be considered.

Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies of the short arm of chromosome 9 and is usually present in a mosaic state postnatally. Depending on the level of mosaicism, the phenotype ranges from mild developmental delay to multiple congenital anomalies with severe intellectual disability. Here, we report on a patient diagnosed with i(9p) mosaicism after the recurrent failure of in vitro fertilization. Although the patient’s clinical phenotype was normal, the level of mosaicism varied greatly from one tissue to another. A sperm analysis evidenced subnormal spermatogenesis with chromosomally balanced spermatozoa and no risk of transmission to the offspring. Although individuals with i(9p) and no clinical manifestations have rarely been described, the prenatal diagnosis of this abnormality in the absence of ultrasound findings raises a number of questions.

Abstract Introduction The impact of coexisting left-sided valvular heart disease (VHD) on clinical outcomes following tricuspid valve edge-to-edge repair (T-TEER) for tricuspid regurgitation (TR) remains unclear, particularly under real-world conditions. To evaluate the prevalence and prognostic impact of concomitant left-sided VHD in patients undergoing T-TEER. Methods This study included all patients undergoing T-TEER from the European Registry of Transcatheter Repair for Tricuspid Regurgitation (EuroTR; NCT06307262) with complete echocardiographic data on left-sided valve disease. Study endpoints included survival and heart failure hospitalizations (HFH) at 2 years, NYHA functional class, and TR reduction. Results Among a total of 1647 eligible patients, 95.8%, 35.6%, and 3.8% had ≥mild, moderate, and severe concomitant VHD, respectively. Moderate or higher VHD was associated with a significantly reduced 2-year survival (P < .001) and reduced 2-year HFH-free survival (P = .005). Multivariate regression analysis confirmed ≥ moderate VHD to be an independent predictor of mortality (hazard ratio 1.54, 95% CI 1.21–1.96, P < .001). Despite worse TR and NYHA functional class at baseline in patients with ≥moderate VHD, T-TEER was associated with a significant TR reduction (P < .001) and symptomatic improvement (P < .001). Conclusion Concomitant left-sided VHD is common among patients undergoing T-TEER and is independently associated with worse survival and higher rates of HFH. Nevertheless, T-TEER provides meaningful symptomatic benefit and durable TR reduction in patients with and without VHD burden. Graphical Abstract Graphical Abstract In the largest T-TEER registry to date, patients presented with a high prevalence of multivalvular disease. Concomitant left-sided valve disease was associated with increased mortality and heart failure hospitalizations. T-TEER was associated with significant TR reduction and symptomatic improvement regardless of concomitant valve disease.