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.

Switching from dupilumab to tralokinumab or Janus kinase inhibitors in cases of ocular and/or facial adverse events in patients with atopic dermatitis: a multicenter retrospective study.

Background: Patients with atopic dermatitis (AD) may discontinue dupilumab owing to dupilumab-induced ocular adverse events (DOAEs) or dupilumab-induced facial redness (DFR).

Objective: To evaluate DOAE and DFR outcomes after switching to tralokinumab or Janus kinase inhibitor (JAKi).

Methods: This retrospective study included 106 patients discontinuing dupilumab because of DOAEs and/or DFR.

Disease-modifying treatment and disability progression in subclasses of patients with primary progressive MS: results from the Big MS Data Network.

Background: Effectiveness of disease-modifying treatment (DMT) in people affected by primary progressive multiple sclerosis (PPMS) is limited. Whether specific subgroups may benefit more from DMT in a real-world setting remains unclear. Our aim was to investigate the potential effect of DMT on disability worsening among patients with PPMS stratified by different disability trajectories.

Do SMS/e-mail reminders increase influenza vaccination of rheumatoid arthritis patients under anti-TNF: a nested randomized controlled trial in the ART e-cohort.

Objectives: To evaluate the effectiveness of short message service (SMS) and/or email reminders in improving influenza vaccination coverage rates among rheumatoid arthritis (RA) patients treated with anti-TNF therapies, and to identify factors associated with vaccination.

Methods: A nested randomized controlled trial in the ART e-cohort, an ongoing French nationwide multicentre prospective cohort of RA patients treated with anti-TNF therapy. Patients were 1:1 randomized, with stratification on age.

Real-life use of the PEXIVAS reduced-dose glucocorticoid regimen in granulomatosis with polyangiitis and microscopic polyangiitis.

Background: The PEXIVAS (Plasma exchange and glucocorticoids in severe antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis) trial showed that a reduced-dose glucocorticoid regimen (redGC) was non-inferior to a standard-dose regimen (standGC) with respect to death or end-stage kidney disease (ESKD) in patients with ANCA-associated vasculitis (AAV). However, the primary endpoint did not include disease progression or relapse, cyclophosphamide was the main induction therapy and rituximab (RTX)-treated patients tended to have a higher risk of death or ESKD with redGC. We aimed to evaluate the real-world use of redGC.

Isolated and Combined Effects of Moderate Normobaric Hypoxia and Sleep Restriction on Energy Intake and Food Reward.

Hypoxia (HY) and sleep deprivation have opposite effects on appetite. As HY may alter sleep, it may be informative to assess the accumulative effects of these two stressors on hunger, energy intake (EI), and food reward. Seventeen young, active, healthy males completed four 5-hr sessions in normoxia (NO) or normobaric HY (FIO2 = 13.

-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.

Background: Myosin heavy chain 7 ()-related myopathies (-RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement.

Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 patients.

Prevention of perioperative venous thromboembolism: 2024 guidelines from the French Working Group on Perioperative Haemostasis (GIHP) developed in collaboration with the French Society of Anaesthesia and Intensive Care Medicine (SFAR), the French Society of Thrombosis and Haemostasis (SFTH) and the French Society of Vascular Medicine (SFMV) and endorsed by the French Society of Digestive Surgery (SFCD), the French Society of Pharmacology and Therapeutics (SFPT) and INNOVTE (Investigation Network On Venous ThromboEmbolism) network.

Background: Any surgical procedure carries a risk for venous thromboembolism (VTE), albeit variable. Improvements in medical and surgical practices and the shortening of care pathways due to the development of day surgery and enhanced recovery after surgery, have reduced the perioperative risk for VTE.

Objective: A collaborative working group of experts in perioperative haemostasis updated in 2024 the recommendations for the Prevention of perioperative venous thromboembolism published in 2011.

LocoMMotion: a study of real-life current standards of care in triple-class exposed patients with relapsed/refractory multiple myeloma - 2-year follow-up (final analysis).

Treatment of relapsed/refractory multiple myeloma (RRMM) is challenging as patients exhaust all available therapies and the disease becomes refractory to standard drug classes. Here we report the final results of LocoMMotion, the first prospective study of real-world clinical practice (RWCP) in triple-class exposed (TCE) patients with RRMM, with a median follow-up of 26.4 months (range, 0.

Incidence, Risk Factors, and Long-Term Outcomes for Extubation Failure in ICU in Patients With Obesity: A Retrospective Analysis of a Multicenter Prospective Observational Study.

Background: To our knowledge, no large observational study has compared the incidence and risk factors for extubation failure within 48 h and during ICU stay in the same cohort of unselected critically ill patients with and without obesity.

Research Question: What are the incidence and risk factors of extubation failure in patients with and without obesity?

Study Design And Methods: In the prospective multicenter observational FREE-REA study in 26 ICUs, the primary objective was to compare the incidence of extubation failure within 48 h in patients with and without obesity. Secondary objectives were to describe and to identify the independent specific risk factors for extubation failure using first a logistic regression model and second a decision tree analysis.

[Role of university hospital doctors specialized in internal medicine in health professions training and institutions in France: Survey of the National College of Teachers of Internal Medicine (CEMI)].

Rationale: On the occasion of the General stage meeting of Internal Medicine, the National College of Internal Medicine Teachers (CEMI) conducted a survey on teaching activity among all French university hospital (HU) internal medicine specialists.

Method: The survey was carried out in September 2023 by sending an email to 101 hospital practitioners university professors (PU-PH) and 18 hospital practitioners assistant professors (MCU-PH) of internal medicine in subsection 53-01 of the National council of universities (CNU), as well as to the 11 HU internists working in immunology (subsection 47-01) or therapeutics (subsection 48-04).

Results: Seventy-three HUs (56.

Defining the landscape of TIA1 and SQSTM1 digenic myopathy.

TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French adult male patients carrying the TIA1 p.Asn357Ser and SQSTM1 p.

'We are all children of war': a qualitative inquiry into parenting following adolescents' recent traumatic exposure in a multiple crisis setting in Beirut, Lebanon.

Strong familial bonds are crucial to building resilience among youth exposed to traumatic events in socially adverse environments. Exploring parental experiences in the aftermath of adolescents' traumatic exposure in these settings would help tailor early interventions. We qualitatively explored experiences and perceived needs among parents of teenagers aged 11-16 years who were exposed in the last three months to a potentially traumatic event in Beirut, Lebanon.