Fern genomes elucidate land plant evolution and cyanobacterial symbioses

Li F-W, Brouwer P, Carretero-Paulet L, et al. Fern genomes elucidate land plant evolution and cyanobacterial symbioses. NATURE PLANTS. 2018;4(7):460-472

Extracorporeal Membrane Oxygenation for Severe Acute Respiratory Distress Syndrome associated with COVID-19: An Emulated Target Trial Analysis.

RATIONALE: Whether COVID patients may benefit from extracorporeal membrane oxygenation (ECMO) compared with conventional invasive mechanical ventilation (IMV) remains unknown. OBJECTIVES: To estimate the effect of ECMO on 90-Day mortality vs IMV only Methods: Among 4,244 critically ill adult patients with COVID-19 included in a multicenter cohort study, we emulated a target trial comparing the treatment strategies of initiating ECMO vs. no ECMO within 7 days of IMV in patients with severe acute respiratory distress syndrome (PaO2/FiO2 <80 or PaCO2 ≥60 mmHg). We controlled for confounding using a multivariable Cox model based on predefined variables. MAIN RESULTS: 1,235 patients met the full eligibility criteria for the emulated trial, among whom 164 patients initiated ECMO. The ECMO strategy had a higher survival probability at Day-7 from the onset of eligibility criteria (87% vs 83%, risk difference: 4%, 95% CI 0;9%) which decreased during follow-up (survival at Day-90: 63% vs 65%, risk difference: -2%, 95% CI -10;5%). However, ECMO was associated with higher survival when performed in high-volume ECMO centers or in regions where a specific ECMO network organization was set up to handle high demand, and when initiated within the first 4 days of MV and in profoundly hypoxemic patients. CONCLUSIONS: In an emulated trial based on a nationwide COVID-19 cohort, we found differential survival over time of an ECMO compared with a no-ECMO strategy. However, ECMO was consistently associated with better outcomes when performed in high-volume centers and in regions with ECMO capacities specifically organized to handle high demand. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/)

Poses - Le Vivier - Le Clos-Saint-Quentin (Eure). L'occupation de la plaine inondable au Néolithique et au début de l'Age du Bronze

From 1989 to 1991, a rescue-dig took place at Poses, «Le Vivier- Le Clos-Saint-Quentin». The area studied is situated on the flood-plain, which explains in this place important alluvial deposits, and consequently exceptionnal conservation of neolithic and chalcolithic seulement levels. On four hectares, the excavation has induced the study of seven settlements and also secondary areas (particularly combustion structures of polynesian type and accumulation of blocks of sandstone). The two oldest settlements belong to the «post-rubané» cultures (Villeneuve-Saint-Germain, Cerny) and the five others to the chalcolithic cultures. The most important resuit concerns, on one hand, the first neolithisation of the country and, on the other hand, the development of a chrono-cultural framework for the Late Neolithic - Early Bronze Age transition. The excavations have shown the existence of original late neolithic features (assemblages 3 and 4), have confirmed the large impact of Bell Beakers espansion in a late time in the Lower Valley of the Seine River and their evolution (assemblages 5 and 6), and finally have allowed to discover an unknown chalcolithic feature (assemblage 7). This operation enables us also to approach the theme of the development of marginal lands in areas liable to flooding.De 1989 à 1991, s'est déroulé un sauvetage programmé sur la commune de Poses, aux lieux-dits «Le Vivier- Le Clos-St-Quentin» sur une surface de quatre hectares. La zone étudiée se trouve dans la plaine inondable, ce qui explique à cet endroit d'importants dépôts de limons de débordement et, par conséquence, l'exceptionnelle conservation de niveaux d'occupation néolithiques et chalcolithi- ques en place. Sur quatre hectares, un total de sept stations d'habitat ont pu être étudiées ainsi que plusieurs zones d'occupation secondaires (en particulier, des fours de type polynésien et des amas de blocs de grès taillés ou brûlés). Les deux stations les plus anciennes appartiennent aux cultures post-rubanées (V.S.G. tardifet Cerny) et les cinq autres au Chalcolithique. Les résultats principaux de cette opération concernent donc, d'une part, les modalités de la première neolithisation de la région et d'autre part, la mise en place d'un cadre chrono-culturel pour la transition Néolithique final - Bronze ancien : la fouille a ainsi mis en valeur l'existence de faciès Néolithique final très originaux (ensembles 3 et 4), a confirmé l'impact important de l'expansion des populations à gobelets campaniformes dans une phase tardive en Basse-Vallée de Seine et leur évolution sur place (ensembles 5 et 6) et enfin, a fait découvrir un faciès chalcolithique inconnu jusqu'à présent (ensemble 7). Enfin, cette opération permet d'aborder le thème de la mise en valeur de zones marginales au terroir villageois que sont les plaines inondables.Billard Cyrille, Aubry Bruno, Blancquaert Gertrud, Bourhis Jean-Roger, Habasque Gilles, Marinval Philippe, Pinel Carole, Ropars Anne, Lebret Patrick, Lefèbvre Dominique, Marguerie Dominique, Paulet-Locard Marie-Armelle. Poses - Le Vivier - Le Clos-Saint-Quentin (Eure). L'occupation de la plaine inondable au Néolithique et au début de l'Age du Bronze. In: Revue archéologique de l'ouest, tome 11, 1994. pp. 53-113

A 2-year multicenter, observational, prospective, cohort study on extracorporeal CO2 removal in a large metropolis area

International audienc

3q27.3 microdeletional syndrome:a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Background: Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods: We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results: The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but had severe impaired communicative and adaptive skills. Two small regions of overlap were defined. The first one, located on the 3q27.3 locus and common to all patients, was associated with psychotic troubles and mood disorders as well as recognisable facial dysmorphism. This region comprised several candidate genes including SST, considered a candidate for the neuropsychiatric findings because of its implication in interneuronal migration and differentiation processes. A familial case with a smaller deletion allowed us to define a second region of overlap at the 3q27.3q28 locus for marfanoid habitus and severe ID. Indeed, the common morphological findings in the first four patients included skeletal features from the marfanoid spectrum: scoliosis (4/4), long and thin habitus with leanness (average Body Mass Index of 15 (18.5<N<25)) (4/4), arachnodactyly (3/4) and pectus excavatum (2/4)). This phenotype could be explained by the deletion of the AHSG gene, which encodes a secreted protein implicated in bone maturation and the TGFb signalling pathway. Conclusions: We report on a new microdeletional syndrome that associates with a recognisable facial dysmorphism and marfanoid habitus including scoliosis, neuropsychiatric disorders of the psychotic spectrum and moderate to severe ID

Delineation of 15q13.3 microdeletions.

International audienceThe increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients with this microdeletion generally present with relatively consistent breakpoints at BP4 and BP5, which include the CHRNA7 gene. About 100 index cases have been reported since the first publication in 2008. This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4-BP5 microdeletion out of a series of 4625 patients screened by array-CGH for DD. We confirm the clinical expressivity of the disease as well as the incomplete penetrance in seven families. We showed through a review of the literature that males are more likely to be symptomatic. Sequence analysis of CHRNA7 yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. We also report the first patient carrying a 15q13.3 homozygous microdeletion inherited from both parents. He had severe epileptic encephalopathy with retinopathy, autistic features and choreoathetosis. Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene