Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.

Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.

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.

[Women's particular pulmonary susceptibility to tobacco: the example of COPD].

THE EXAMPLE OF COPD . Women are more susceptible to the harmful effects of smoking than men, even with moderate exposure, and this vulnerability begins in childhood. The prevalence of smoking has even increased, in certain age groups of women, in France between 2019 and 2021.

Prognostic value of ventricular arrhythmia in early post-infarction left ventricular dysfunction: the French nationwide WICD-MI study.

Background And Aims: Prophylactic implantable cardioverter-defibrillators (ICDs) are not recommended until left ventricular ejection fraction (LVEF) has been reassessed 40 to 90 days after an acute myocardial infarction. In the current therapeutic era, the prognosis of sustained ventricular arrhythmias (VAs) occurring during this early post-infarction phase (i.e.

Clinical Characteristics and Therapeutic Management of Atopic Dermatitis in Elderly Patients Compared with Young Adult Patients: A Prospective Multicentre Study.

Atopic dermatitis (AD) is the most common chronic inflammatory dermatitis in developed countries, and has a major impact on those affected. Little is known about AD in elderly patients. This prospective multicentre observational study described the clinical characteristics and burden of AD in elderly subjects ≥ 65 years, as well as the therapeutic options chosen for this population in routine care, and compared findings with those in young adults with AD < 30 years.

Oxygen therapy in acute hypoxemic respiratory failure: guidelines from the SRLF-SFMU consensus conference.

Introduction: Although largely used, the place of oxygen therapy and its devices in patients with acute hypoxemic respiratory failure (ARF) deserves to be clarified. The French Intensive Care Society (Société de Réanimation de Langue Française, SRLF) and the French Emergency Medicine Society (Société Française de Médecine d'Urgence, SFMU) organized a consensus conference on oxygen therapy in ARF (excluding acute cardiogenic pulmonary oedema and hypercapnic exacerbation of chronic obstructive diseases) in December 2023.

Methods: A committee without any conflict of interest (CoI) with the subject defined 7 generic questions and drew up a list of sub questions according to the population, intervention, comparison and outcomes (PICO) model.

Prospective multi-center evaluation of the incidence of unplanned extubation and its outcomes in French intensive care units. The Safe-ICU study.

Background: We aimed to determine the epidemiology and outcomes of unplanned extubation (UE), both accidental and self-extubation, in ICU.

Methods: A multicentre prospective cohort study was conducted in 47 French ICUs. The number of mechanical ventilation (MV) days, and planned and unplanned extubation were recorded in each center over a minimum period of three consecutive months to evaluate UE incidence.

Compared Burden of Psoriasis, Atopic Dermatitis, Hidradenitis Suppurativa, and Chronic Urticaria: Baseline Characteristics of the Patients Included in the OMCCI Cohort - A French, Prospective Multicenter Study of Chronic Inflammatory Dermatoses.

Introduction: Chronic inflammatory dermatoses (CIDs) can significantly affect patients' lives. The Observatory of Chronic Inflammatory Skin Diseases (OMCCI) cohort was initiated to quantify the impact and disease evolution of four CID over 4 years' follow-up; at least 1,000 patients per CID are planned to be enrolled. The objective of this study was to present baseline characteristics of patients included in the OMCCI cohort between December 2020 and September 2022.

Evolution of dupilumab-associated conjunctivitis in patients with atopic dermatitis after switching dupilumab to tralokinumab or Janus kinase inhibitors (RESO-ADOC study).

Background: Clinical trials and real-life data have reported an increased incidence of conjunctivitis in patients treated with dupilumab for their atopic dermatitis (AD). Although mostly mild in severity, in some cases conjunctivitis will appear or increase after dupilumab initiation, which can lead to dupilumab discontinuation.

Objectives: (1) To describe the characteristics of patients developing conjunctivitis requiring discontinuation of dupilumab; and (2) to analyse the factors associated with a complete conjunctivitis improvement after dupilumab discontinuation and a switch to tralokinumab or Janus kinase inhibitors.

[How can we prevent teenage smoking ?].

Smoking rates in Europe are falling steadily among teenagers. The main reasons why young people start smoking are highlighted. Preventing young people from starting to smoke is based on a combination of three approaches: firstly, interventions in schools, incorporating educational programs from an early age; secondly, comprehensive tobacco control measures, such as bans on sales to minors and higher taxes on tobacco products; -thirdly, targeted communication campaigns.

[Smoking and tuberculosis].

SMOKING AND TUBERCULOSIS. Tuberculosis and smoking are responsible for high mortality worldwide. Tuberculosis causes 9 million incident cases and 1.

[The shared educational assessment in the smoking cessation process].

In the context of smoking cessation, the shared educational assessment (BEP) enables us to assess the smoker's needs, define specific objectives and set up appropriate educational workshops. This multidisciplinary approach helps smokers to maintain their smoking cessation. The BEP is the first step in the educational process, exploring the various classic dimensions of therapeutic patient education (TPE) and then defining an action plan based on the priorities identified.

Collaborative virtual reality environment in disaster medicine: moving from single player to multiple learners.

Background: The use of virtual reality (VR) in healthcare education is on the increase. In disaster medicine, it could be a solution to the cost and logistic constraints for a "full-scale" scenarios. However, VR is mainly designed for single players, which is not appropriate for the objectives pursued in disaster medicine.

[Tobacco and tuberculosis: the nature of the links and the consequences of this association].

Tuberculosis and smoking are responsible for significant mortality worldwide. Smoking is spreading in emerging countries, and its prevalence is high in developed countries among socially disadvantaged populations; it could be the source of a resurgence of tuberculosis in future years. The aim of this review is to clarify the consequences of the association between smoking and tuberculosis, and the benefits of smoking cessation for smokers with tuberculosis.

Analysis of the transplacental transmission of SARS CoV-2 virus and antibody transfer according to the gestational age at maternal infection.

To quantify transplacental transmission of SARS-CoV-2 virus and antibody transfer in pregnant women and their newborns according to the gestational age at maternal infection. A prospective observational multicenter study including pregnant women with a positive RT-PCR or a positive serology for SARS-CoV-2 and compatible symptoms, from April to December 2020, in 11 French maternities. The study was designed to obtain a systematic collection of mother-infant dyad's samples at birth.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks.

[Bronchial diseases and heroin use. A systematic review].

Introduction: Heroin use can cause respiratory complications including asthma, chronic obstructive pulmonary disease (COPD) and bronchiectasis (BD).

Objectives: A general review of the literature presenting the data on the relationships between heroin consumption and bronchial complications, while underlining the difficulties of diagnosis and management.

Documentary Sources: Medline, 1980-2022, keywords "asthma" or "bronchospasm" or "COPD" or "bronchiectasis" and "heroin" or "opiate" or "opiates", with limits pertaining to "Title/Abstract".

Impact of Baricitinib on Patients' Quality of Life after One Year of Treatment for Atopic Dermatitis in Real-World Practice: Results of the Observatory of Chronic Inflammatory Skin Diseases Registry.

The efficacy and safety of baricitinib for treatment of atopic dermatitis have been demonstrated in clinical trials; however, very few real-life studies have been published to date. The Observatory of Chronic Inflammatory Skin Diseases (OMCCI) registry was initiated to prospectively determine the long-term impairment caused by chronic inflammatory dermatoses on patients' lives. The study included 88 patients starting baricitinib for treatment of atopic dermatitis.