Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

Obesity rather than diabetes impacted severe Covid-19 on reunion island: A retrospective cohort study from a frontline hospital, 2020-2021.

Aim: 2019-Coronavirus reached the French island of Reunion, which is marked by a very high prevalence of metabolic disorders such as obesity and type 2 diabetes mellitus (T2DM), in March 2020. The objective was to determine the metabolic factors associated with the severity of SARS-CoV-2 infection in Reunion Island.

Methods: This retrospective observational cohort study enrolled patients who were hospitalized on the island from March 11th, 2020 to August 4th, 2021.

Antifungal and anti-biofilm effects of hydrazone derivatives on spp.

Worldwide, invasive candidiasis are a burden for the health system due to difficulties to manage patients, to the increasing of the resistance of the current therapeutics and the emergence of naturally resistant species of . In this context, the development of innovative antifungal drugs is urgently needed. During invasive candidiasis, yeast is submitted to many stresses (oxidative, thermic, osmotic) in the human host.

In-hospital outcomes following an acute coronary syndrome in patients with recent cannabis use.

Background: The prevalence and short-term cardiovascular consequences of recent cannabis use in patients admitted to an intensive cardiac care unit for acute coronary syndrome is not well established.

Aims: To assess the prevalence of recent cannabis use detected by prospective systematic screening, and its prognostic value in predicting the occurrence of in-hospital major adverse events in consecutive patients with acute coronary syndrome.

Methods: From 07 to 22 April 2021, all consecutive patients admitted to an intensive cardiac care unit in 39 centres throughout France were studied prospectively.

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.

Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.

Background: Elexacaftor-tezacaftor-ivacaftor has been approved in Europe for people with cystic fibrosis with at least one F508del CFTR variant. Additionally, it is approved by the US Food and Drug Administration (FDA) for people with cystic fibrosis with at least one of 177 rare variants. The aims of this study were to describe the clinical response to elexacaftor-tezacaftor-ivacaftor for people with cystic fibrosis without a F508del CFTR variant in France and to determine CFTR variant responsiveness to elexacaftor-tezacaftor-ivacaftor based on the observed clinical response.

[Determinants of human papillomavirus vaccine amongst boys in Reunion Island: Survey of parents and general practitioners].

Objectives: To describe the knowledge, barriers and acceptability factors of parents and general practitioners about HPV vaccination amongst boys in Reunion Island, in order to adapt primary prevention locally.

Methods: This was a quantitative, descriptive, cross-sectional, observational study involving 88 parents of boys aged 11 to 19 and 81 general practitioners based in Reunion Island. Both populations volunteered to answer a questionnaire available online or on paper.

30-day morbidity and mortality of revisional bariatric surgery - An international multi-centre collaborative (BROAD) study.

Introduction: Revisional bariatric surgery (RBS) for insufficient weight loss/weight regain or metabolic relapse is increasing worldwide. There is currently no large multinational, prospective data on 30-day morbidity and mortality of RBS. In this study, we aimed to evaluate the 30-day morbidity and mortality of RBS at participating centres.

Clues for improvement of research in objective structured clinical examination.

While objective clinical structured examination (OSCE) is a worldwide recognized and effective method to assess clinical skills of undergraduate medical students, the latest Ottawa conference on the assessment of competences raised vigorous debates regarding the future and innovations of OSCE. This study aimed to provide a comprehensive view of the global research activity on OSCE over the past decades and to identify clues for its improvement. We performed a bibliometric and scientometric analysis of OSCE papers published until March 2024.

Revision/Conversion Surgeries After One Anastomosis Gastric Bypass-An Experts' Modified Delphi Consensus.

Purpose: There is a lack of evidence for treatment of some conditions including complication management, suboptimal initial weight loss, recurrent weight gain, or worsening of a significant obesity complication after one anastomosis gastric bypass (OAGB). This study was designed to respond to the existing lack of agreement and to provide a valuable resource for clinicians by employing an expert-modified Delphi consensus method.

Methods: Forty-eight recognized bariatric surgeons from 28 countries participated in the modified Delphi consensus to vote on 64 statements in two rounds.

Phenotypic clustering of patients hospitalized in intensive cardiac care units: Insights from the ADDICT-ICCU study.

Background: Intensive cardiac care units (ICCUs) were created to manage ventricular arrhythmias after acute coronary syndromes, but have diversified to include a more heterogeneous population, the characteristics of which are not well depicted by conventional methods.

Aims: To identify ICCU patient subgroups by phenotypic unsupervised clustering integrating clinical, biological, and echocardiographic data to reveal pathophysiological differences.

Methods: During 7-22 April 2021, we recruited all consecutive patients admitted to ICCUs in 39 centers.

Mortality in French people with polyhandicap/profound intellectual and multiple disabilities.

Background: In recent decades, progress has been made in the care of people with polyhandicap/profound intellectual and multiple disabilities (PIMD) through a better understanding of the pathophysiology and the development of new care management and rehabilitation strategies adapted to these extreme pathologies. Although there is a lack of knowledge about the health status and care management of the oldest people, a better understanding of the natural course of life of people with polyhandicap/PIMD would consequently allow the optimisation of preventive and curative care management strategies. Few robust data on mortality and life expectancy have been documented for this population in France.

Clinical description and outcome of overall varicella-zoster virus-related organ dysfunctions admitted in intensive care units: the VAZOREA cohort study.

Background: Due to aging population and increasing part of immunocompromised patients, a raise in life-threatening organ damage related to VZV can be expected. Two retrospective studies were already conducted on VZV in ICU but focused on specific organ injury. Patients with high-risk of VZV disease still must be identified.

Analysis of Factors Related to Gastroesophageal Reflux After Gastric Bypass at 10-Year Follow-up: A Retrospective Single-institutional Study.

Background/aim: Long-term gastroesophageal reflux (GERD) after gastric bypass for obesity is underestimated. The present study aimed to evaluate the rate of treated GERD and the factors influencing it in a cohort of patients who underwent gastric bypass.

Patients And Methods: Patients who underwent one-anastomosis gastric bypass (OAGB) or Roux-en-Y gastric bypass (RYGB) as a primary bariatric procedure between 2010 and 2011 at a French private referral center were included in the study.