Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

Standardized Outcomes for Randomized Controlled Trials Targeting Early Interventions in Patients With Moderate-to-Severe Traumatic Brain Injury: Protocol for the Development of a Core Outcome Set.

Background: : With more than 60 million new cases around the world each year, traumatic brain injury (TBI) causes substantial mortality and morbidity. Managing TBI is a major human, social, and economic concern. In the last 20 years, there has been an increase in clinical trials in neurocritical care, leading mostly to negative results.

Sedation Practices in Mechanically Ventilated Neurocritical Care Patients from 19 Countries: An International Cohort Study.

Background: Our objective was to characterize the impact of common initial sedation practices on invasive mechanical ventilation (IMV) duration and in-hospital outcomes in patients with acute brain injury (ABI) and to elucidate variations in practices between high-income and middle-income countries.

Methods: This was a post hoc analysis of a prospective observational data registry of neurocritically ill patients requiring IMV. The setting included 73 intensive care units (ICUs) in 18 countries, with a total of 1,450 patients with ABI requiring IMV.

Robot-assisted laparoscopic continent cutaneous urinary diversion in adults: A single-centre study.

Objectives: To show that robot-assisted laparoscopic cutaneous continent urinary diversion (RALCCUD) is feasible and safe; however, data on clinical outcomes in adults are lacking.

Materials And Methods: We conducted a retrospective study of all adults who underwent RALCCUD between 2017 and 2022 at a single tertiary reference centre.Patient characteristics, clinical information and perioperative outcomes were recorded.

Epidemiological and bacteriological trends from 2013 to 2023 of carbapenemase-producing enterobacterales (CPE) in a French university hospital: A permanent risk of outbreak.

Aim: The aim of this study was to describe the epidemiology and bacteriological trends of carbapenemase-producing Enterobacteriaceae (CPE) at Nantes University Hospital from 2013 to 2023.

Methods: Potential CPE carriers were prospectively detected, and their contacts were systematically screened for CPE digestive colonization. A retrospective study was conducted from 2013 to 2023 (on patient characteristics) and from 2016 to 2023 (on CPE characteristics).

Spinal muscular atrophy is also a disorder of spermatogenesis.

Background: Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such treatment raised questions about male SMA patients' spermatogenesis.

Methods: This descriptive, cross-sectional study was conducted from June 2022 to July 2023.

Transcriptional regulation of KCNA2 coding Kv1.2 by EWS::FLI1: involvement in controlling the YAP/Hippo signalling pathway and cell proliferation.

Background: Ewing sarcoma (ES), the second main pediatric bone sarcoma, is characterised by a chromosomal translocation leading to the formation of fusion proteins like EWS::FLI1. While several studies have shown that potassium channels drive the development of many tumours, limited data exist on ES. This work therefore aimed to study the transcriptional regulation of KCNA2 and define the involvement of the Kv1.

Vasodilator drugs and heart-related outcomes in systemic sclerosis: an exploratory analysis.

Background And Aims: Systemic sclerosis (SSc) is an autoimmune connective disease characterised by excessive extracellular matrix deposition and widespread skin and internal organ fibrosis including various cardiac manifestations. Heart involvement is one of the leading causes of death among patients with SSc. In this study, we aimed to assess the effect of various vasodilator treatments.

Endoscopic papillectomy versus surgical ampullectomy for adenomas and early cancers of the papilla: a retrospective Pancreas2000/European Pancreatic Club analysis.

Objective: Ampullary neoplastic lesions can be resected by endoscopic papillectomy (EP) or transduodenal surgical ampullectomy (TSA) while pancreaticoduodenectomy is reserved for more advanced lesions. We present the largest retrospective comparative study analysing EP and TSA.

Design: Of all patients in the database, lesions with prior interventions, benign histology advanced malignancy (T2 and more), patients with hereditary syndromes and those undergoing pancreatoduodenectomy were excluded.

Oral citrulline supplementation in pregnancies with preeclampsia: a multicenter, randomized, double-blind clinical trial.

Background: Preeclampsia (PE) contributes to maternal and fetal mortality and morbidity. Supplementation with L-arginine, the precursor of nitric oxide, has not proven effective, possibly due to extensive arginine catabolism in the splanchnic bed. Citrulline is converted by the kidney to L-arginine.

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

Inputs of pharmacoepidemiology in addictovigilance: How do they fit together?

The French Addictovigilance Network has been using data from the French Heath insurance since the late 1990s to assess prescription drug abuse. In this narrative review, we illustrate the inputs of pharmacoepidemiology in addictovigilance based on the experience of the French Addictovigilance Network. The review focuses on pharmacoepidemiology using the French National Health Data System.

[Evaluation of a telephone hotline for a university hospital's operational hygiene team].

Hotlines are remote systems that provide a direct link with professionals and rapid answers to their questions. In 2023, the hygiene operations team at Nantes University Hospital carried out an evaluation of its system five years after its introduction, involving 727 professionals. They were satisfied with the time and quality of the service provided, as well as with the scientific input received.

Long-term follow-up of the STOPAGO study.

In an open prospective, multicenter study enrolling 48 selected patients with chronic immune thrombocytopenia who achieved complete response for 1 year on thrombopoietin receptor agonists, half of the patients maintained a sustained response off treatment 4 years after treatment discontinuation.

Real-world data for marginal zone lymphoma patients in the French REALYSA cohort: The REALMA study.

Marginal Zone Lymphoma (MZL) comprises three subtypes: extranodal MZL (EMZL), splenic MZL (SMZL) and nodal MZL (NMZL). Since clinical trials have limited representativeness, there is a need for real-world data (RWD) evidence in MZL. Real-world data in Lymphoma and survival in Adults (REALYSA) is a prospective multicentric French cohort of newly diagnosed lymphoma patients.

Mapping oral medicine (stomatology) and oral and maxillofacial pathology international organizations: a scoping review of global data and historical analysis.

Objectives: To describe the historical evolution and dissemination of the Oral Medicine and Oral and Maxillofacial Pathology international societies and associations across the globe, and to provide insights into their significant contributions toward oral health promotion.

Study Design: This review was conducted in accordance with the JBI Scoping Review Methodology Group guidance. The reporting followed the Preferred Reporting Items for Systematic Reviews extension for Scoping Reviews (PRISMA-ScR).

TORPP - Turtles, One Health Research & Plastic Pollution: A multidisciplinary consortium to evaluate the environmental and health impact of Micro/NanoPlastics (MNPs) pollution.

Although the World Health Organization characterizes a One Health concern as one in which there is the capability to incorporate numerous disciplines to tackle health challenges threatening humans, animals and ecosystems, scientific efforts frequently remain compartmentalized. Here we report an original consortium, TORPP, spanning 16 disciplines, focused on Micro/NanoPlastics (MNPs) pollution as a One Health concern. Whereas the MNP topic has been largely studied in marine ecology, research effort remains scarce in human medicine.