First and repeated records of the tropical-temperate crab Asthenognathus atlanticus Monod, 1932 (Decapoda: Brachyura) in the eastern part of the Bay of Seine (eastern English Channel, France)

International audienceAsthenognathus atlanticus Monod, 1932, has been reported for the first time from the eastern part of the bay ofSeine (eastern english Channel). A total of 30 specimens were collected between the years 2008 and 2011, along thenormandy coast from ouistreham to Antifer, mainly on mud and muddy sand habitats, between 10 and 25 m depth. thedistribution range of A. atlanticus has been previously known to cover eastern Atlantic coasts from Angola to the westernenglish Channel, where it reached its northern limits. it is also present in the western part of the Mediterranean Sea. thechanges in the sediment composition of the eastern bay of Seine have probably led to the development of a potentiallyfavorable habitat for this species. However, the data collected have not yet been sufficient to ascertain the origin, and themethod of introduction of the eastern english Channel specimens. in the discussion, we ponder if they might haveoriginated from the western english Channel populations, and was transported as larvae in the eastern english Channel;they could have originated from a more distant population, and have been brought to the eastern english Channel throughhuman activities. each hypothesis is possible in theory

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Les défis des espaces ruraux

Mettre en évidence les atouts des espaces ruraux, encadrer les retombées de l’arrivée de nouveaux résidents : voici le nouveau défi que les politiques tentent de relever. Ceci ne peut se faire qu’en ayant une approche intégrée et multisectorielle de l’espace rural et en prenant en compte tous les acteurs du territoire. C’est dans cette optique que la Conférence Permanente du Développement Territorial s’est vu confier par le Gouvernement la réalisation d’une étude portant sur les défis des espaces ruraux. Cette note de recherche qui en résume les résultats se focalise sur une dizaine de dynamiques et leurs enjeux. De cette étude on retient déjà qu’il existe non pas une, mais des ruralités ; que celles-ci nécessitent des politiques différenciées, appelant des réponses locales ; que l’attractivité résidentielle reste une dynamique essentielle des espaces ruraux… et qu’on peut s’interroger sur le statut de l’idée de ville dense qui semble à l’heure actuelle le seul espace légitime, du moins dans les discours. La Wallonie rurale a longtemps été considérée comme le « négatif » de l’espace urbain, réduisant sa prise en compte à une vision simpliste, erronée et unique de ses atouts et de ses difficultés. Cette étude va résolument à l’encontre de cette lecture obsolète ; elle propose une série de recommandations afin de reconsidérer les spécificités de nos espaces ruraux, d’y favoriser la qualité de vie et leur participation au rayonnement de la Wallonie

First and repeated records of the tropical-temperate crab Asthenognathus atlanticus Monod, 1932 (Decapoda: Brachyura) in the eastern part of the Bay of Seine (eastern English Channel, France)

International audienceAsthenognathus atlanticus Monod, 1932, has been reported for the first time from the eastern part of the bay ofSeine (eastern english Channel). A total of 30 specimens were collected between the years 2008 and 2011, along thenormandy coast from ouistreham to Antifer, mainly on mud and muddy sand habitats, between 10 and 25 m depth. thedistribution range of A. atlanticus has been previously known to cover eastern Atlantic coasts from Angola to the westernenglish Channel, where it reached its northern limits. it is also present in the western part of the Mediterranean Sea. thechanges in the sediment composition of the eastern bay of Seine have probably led to the development of a potentiallyfavorable habitat for this species. However, the data collected have not yet been sufficient to ascertain the origin, and themethod of introduction of the eastern english Channel specimens. in the discussion, we ponder if they might haveoriginated from the western english Channel populations, and was transported as larvae in the eastern english Channel;they could have originated from a more distant population, and have been brought to the eastern english Channel throughhuman activities. each hypothesis is possible in theory

Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence

International audiencePurposeX-linked inhibitor of apoptosis protein (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome of type 2 (XLP-2), is a rare immunodeficiency characterized by recurrent hemophagocytic lymphohistiocytosis, splenomegaly, and inflammatory bowel disease. Variants in XIAP including missense, non-sense, frameshift, and deletions of coding exons have been reported to cause XIAP deficiency. We studied three young boys with immunodeficiency displaying XLP-2-like clinical features. No genetic variation in the coding exons of XIAP was identified by whole-exome sequencing (WES), although the patients exhibited a complete loss of XIAP expression.MethodsTargeted next-generation sequencing (NGS) of the entire locus of XIAP was performed on DNA samples from the three patients. Molecular investigations were assessed by gene reporter expression assays in HEK cells and CRISPR-Cas9 genome editing in primary T cells.ResultsNGS of XIAP identified three distinct non-coding deletions in the patients that were predicted to be driven by repetitive DNA sequences. These deletions share a common region of 839 bp that encompassed the first non-coding exon of XIAP and contained regulatory elements and marks specific of an active promoter. Moreover, we showed that among the 839 bp, the exon was transcriptionally active. Finally, deletion of the exon by CRISPR-Cas9 in primary cells reduced XIAP protein expression.ConclusionsThese results identify a key promoter sequence contained in the first non-coding exon of XIAP. Importantly, this study highlights that sequencing of the non-coding exons that are not currently captured by WES should be considered in the genetic diagnosis when no variation is found in coding exons

The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre

International audienceA variety of neuropsychiatric complications has been described in association with COVID-19 infection. Large scale studies presenting a wider picture of these complications and their relative frequency are lacking. The objective of our study was to describe the spectrum of neurological and psychiatric complications in patients with COVID-19 seen in a multidisciplinary hospital centre over 6 months. We conducted a retrospective, observational study of all patients showing neurological or psychiatric symptoms in the context of COVID-19 seen in the medical and university neuroscience department of Assistance Publique Hopitaux de Paris-Sorbonne University. We collected demographic data, comorbidities, symptoms and severity of COVID-19 infection, neurological and psychiatric symptoms, neurological and psychiatric examination data and, when available, results from CSF analysis, MRI, EEG and EMG. A total of 249 COVID-19 patients with a de novo neurological or psychiatric manifestation were included in the database and 245 were included in the final analyses. One-hundred fourteen patients (47%) were admitted to the intensive care unit and 10 (4%) died. The most frequent neuropsychiatric complications diagnosed were encephalopathy (43%), critical illness polyneuropathy and myopathy (26%), isolated psychiatric disturbance (18%) and cerebrovascular disorders (16%). No patients showed CSF evidence of SARS-CoV-2. Encephalopathy was associated with older age and higher risk of death. Critical illness neuromyopathy was associated with an extended stay in the intensive care unit. The majority of these neuropsychiatric complications could be imputed to critical illness, intensive care and systemic inflammation, which contrasts with the paucity of more direct SARS-CoV-2-related complications or post-infection disorders

The cerebral network of COVID-19-related encephalopathy: a longitudinal voxel-based 18F-FDG-PET study

International audienc