The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design

Abstract Background Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision. We previously developed a fetal urine peptide signature that predicted in utero with high precision postnatal renal function in fetuses with PUV. We describe here the objectives and design of the prospective international multicentre ANTENATAL (multicentre validation of a fetal urine peptidome-based classifier to predict postnatal renal function in posterior urethral valves) study, set up to validate this fetal urine peptide signature. Methods Participants will be PUV pregnancies enrolled from 2017 to 2021 and followed up until 2023 in >30 European centres endorsed and supported by European reference networks for rare urological disorders (ERN eUROGEN) and rare kidney diseases (ERN ERKNet). The endpoint will be renal/patient survival at 2 years postnatally. Assuming α = 0.05, 1–β = 0.8 and a mean prevalence of severe renal outcome in PUV individuals of 0.35, 400 patients need to be enrolled to validate the previously reported sensitivity and specificity of the peptide signature. Results In this largest multicentre study of antenatally detected PUV, we anticipate bringing a novel tool to the clinic. Based on urinary peptides and potentially amended in the future with additional omics traits, this tool will be able to precisely quantify postnatal renal survival in PUV pregnancies. The main limitation of the employed approach is the need for specialized equipment. Conclusions Accurate risk assessment in the prenatal period should strongly improve the management of fetuses with PUV

Etude de thermodynamique des melanges de type alcool+cycloalcane, +hydrocarbure aromatique, +n-alcanone. Prevision des proprietes d'exces et des lignes d'equilibre entre phases par le modele DISpersif QUAsi Chimique (DISQUAC)

SIGLEAvailable from INIST (FR), Document Supply Service, under shelf-number : TD 84048 / INIST-CNRS - Institut de l'Information Scientifique et TechniqueFRFranc

Ultrahigh-resolution FT-ICR mass spectrometry for molecular characterisation of pressurised hot water-extractable organic matter in soils.

20 pagesInternational audienceDissolved organic matter in soil is a highly reactive pool of organic matter and is of great importance for biogeochemical cycles in soil. A better understanding of its dynamics relies on its molecular characterisation. Here, the molecular composition of water-extracted organic matter at elevated pressure and temperature (PH-WEOM) obtained from 120 Burgundy soils was investigated using high-field Fourier transform-ion cyclotron resonance-mass spectrometry (FT-ICR MS). Unsupervised multivariate statistical analysis (UMSA) was used to retrieve classes of samples with specific molecular characteristics. Accordingly, van Krevelen diagram, Kendrick mass defect (KMD), as well as aromaticity index (AI) and aromaticity equivalent (Xc), were applied to present a pool of ubiquitous molecular formulas and to evaluate the PH-WEOM molecular heterogeneity in the sample set. Based on UMSA, the PH-WEOM from forest soils revealed a clearly distinct molecular composition, with major contributions from lignin- and tannin-like compounds, and with its aromaticity related to soil characteristics, especially the soil pH. No clear evidence of land-cover influence on the PH-WEOM molecular composition was found for cropland and grassland soils, but the role of pH was also identified for these samples, and agrees with molecular patterns attributed to microbial activity, with the presence of compounds with high H/C ratio. A group of samples from cropland soils developed on residual formations is characterised by a very specific molecular composition, rich in aliphatic organosulfur-like compounds, highlighting the importance of specific soil processes in the molecular composition of PH-WEOM. This work demonstrates the potential of FT-ICR MS to resolve the high chemical complexity of PH-WEOM in soils and the intricate influences of both biotic and abiotic environmental factors on the molecular composition of PH-WEOM in soils

L’Impressionnisme, les arts, la fluidité

La « subtile fluidité contemporaine » célébrée par Mallarmé, défenseur et critique perspicace de la mouvance impressionniste, est devenue aussi bien un objet central de réflexion pour la philosophie contemporaine qu'une caractéristique déterminante de la modernité artistique. Déjà associée aux productions de Watteau, Boucher ou Fragonard au XVIIIe siècle, la fluidité l'est aussi à celles de Turner, Hugo, et plus encore à Monet : le « Raphaël de l'eau » (Antonin Proust) dont la « prodigieuse fluidité » (Ernest Chesnau) sera louée des origines du mouvement impressionniste jusqu'aux Nymphéas, décrites comme « un échange d'impondérables à travers des fluides » (Louis Gillet). Ce qui est à la fois un thème, une catégorie technique et stylistique, un concept esthétique déterminant pour l'impressionnisme et, plus largement, pour la culture moderne et contemporaine, est ici étudié grâce au concours d'historiens de l'art, de philosophes, de musicologues et de spécialistes de la littérature, de la photographie et du cinéma

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Autosomal-recessive inheritance accounts for nearly 25% of nonsyndromic mental retardation (MR), but the extreme heterogeneity of such conditions markedly hampers gene identification. Combining autozygosity mapping and RNA expression profiling in a consanguineous Tunisian family of three MR children with mild microcephaly and white-matter abnormalities identified the TRAPPC9 gene, which encodes a NF-κB-inducing kinase (NIK) and IκB kinase complex β (IKK-β) binding protein, as a likely candidate. Sequencing analysis revealed a nonsense variant (c.1708C>T [p.R570X]) within exon 9 of this gene that is responsible for an undetectable level of TRAPPC9 protein in patient skin fibroblasts. Moreover, TNF-α stimulation assays showed a defect in IkBα degradation, suggesting impaired NF-κB signaling in patient cells. This study provides evidence of an NF-κB signaling defect in isolated MR

Severe X-linked chondrodysplasia punctata in nine new female fetuses

International audienceObjectivesConradi-Hunermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. MethodsTo better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations. All cases were de novo except for two fetuses with an affected mother and one case of germinal mosaicism. ResultsThe mean age at diagnosis was 22weeks of gestation. The ultrasound features mainly included bone abnormalities: shortening (8/9 cases) and bowing of the long bones (5/9), punctuate epiphysis (7/9) and an irregular aspect of the spine (5/9). Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones. The X-inactivation pattern of the familial case revealed skewed X-inactivation in the mildly symptomatic mother and random X-inactivation in the severe fetal case. Differently affected skin samples of the same fetus revealed different patterns of X-inactivation. ConclusionPrenatal detection of asymmetric shortening and bowing of the long bones and cartilage stippling should raise the possibility of CPDX2 in female fetuses, especially because the majority of such cases involve de novo mutations

Atlas of Jordan

L’ambition de cet atlas est d’offrir au lecteur des clés d’analyse spatiale des dynamiques sociales, économiques et politiques qui animent la Jordanie, pays exemplaire de la complexité du Moyen-Orient. Produit de sept années de coopération scientifique entre l’Ifpo, le Centre Royal Jordanien de Géographie et l’Université de Jordanie, l’atlas réunit les contributions de 48 chercheurs européens, jordaniens et internationaux. La formation des territoires jordaniens sur le temps long est éclairée par une longue partie historique, suivie de chapitres sur la démographie, l’économie, les disparités sociales, les défis urbains et les grands projets d’aménagement du territoire. La Jordanie fait figure d’exception au Moyen-Orient par la stabilité politique dont elle témoigne depuis la proclamation de son indépendance en 1946, cela malgré le défi qu’a constitué l’intégration de plusieurs vagues de réfugiés palestiniens, irakiens et tout récemment syriens. Elle a fait de cette stabilité et de la paix signée avec Israël en 1994 une rente économique qui lui permet d’être l’un des premiers pays au monde en terme d’aide au développement par habitant.This atlas aims to provide the reader with key pointers for a spatial analysis of the social, economic and political dynamics at work in Jordan, an exemplary country of the Middle East complexities. Being a product of seven years of scientific cooperation between Ifpo, the Royal Jordanian Geographic Center and the University of Jordan, it includes the contributions of 48 European, Jordanian and International researchers. A long historical part followed by sections on demography, economy, social disparities, urban challenges and major town and country planning, sheds light on the formation of Jordanian territories over time. Jordan has always been looked on as an exception in the Middle East due to the political stability that has prevailed since the country’s Independence in 1946, despite the challenge of integrating several waves of Palestinian, Iraqi and - more recently - Syrian refugees. Thanks to this stability and the peace accord signed with Israel in 1994, Jordan is one of the first countries in the world for development aid per capita.يطمح هذا الأطلس إلى تقديم مفاتيح أساسية في التحليل المكاني للآليات الاجتماعية والاقتصادية والسياسية التي تحرّك الأردن، هذا البلد الذي تشكّل بنيته نموذجًا مصغّرًا عن تركيبة الشرق الأوسط المعقّدة. و هذا العمل نتاج سبع سنين من التعاون العلمي بين" المعهد الفرنسي للشرق الأدنى" و "المركز الجغرافي الملكي الأردني". وهو يجمع مساهمات ثمانية وأربعين باحثًا من الأردن وأوروبا ودول أخرى. وقد خُصَّص قسم طويل تاريخي من العمل لتسليط الضوء على تشكّل الأراضي الأردنيّة عبر الأزمنة، تليه فصول عن التوزّع السكّاني والأقتصاد وتفاوت الطبقات الاجتماعية والتحدّيات العمرانية ومشاريع التخطيط الإقليمي. ويشكّل الأردن استثناءً في الشرق الأوسط لناحية الاستقرار الذي عرفه منذ إعلان استقلاله في ١٩٤٦، ذلك على الرغم من التحديّات التي واجهها في استقبال ودمج عدّة موجات من اللاجئين، من فلسطين ثمّ العراق، ومؤخّرًا من سوريا. وقد جاء استثمار هذا الاستقرار، إضافةً إلى اتفاقية السلام الموقّعة مع إسرائيل في ١٩٩٤، بمردود اقتصادي رفع حصّة الفرد من الإنفاق على التنمية ليصبح الأردن في طليعة الدول في هذا المجال في العالم