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.

[Vaccination of children and adolescents treated for acute leukemia, excluding HSCT recipients: Recommendations of the French Society for Childhood and Adolescent Cancer and Leukemia (SFCE)].

Children and adolescents who are being treated or have been treated for acute leukemia have a secondary immunodeficiency linked to chemotherapy, resulting in an increased risk of infections. Some of which can be prevented by vaccination but its effectiveness is not optimal during chemotherapy. Upon cessation of chemotherapy, the time required for immune reconstitution varies from three months to more than a year, depending on lymphocyte subpopulations, the patient's age, and the intensity of the treatment received.

Guidelines for cerebrovascular segmentation: Managing imperfect annotations in the context of semi-supervised learning.

Segmentation in medical imaging is an essential and often preliminary task in the image processing chain, driving numerous efforts towards the design of robust segmentation algorithms. Supervised learning methods achieve excellent performances when fed with a sufficient amount of labeled data. However, such labels are typically highly time-consuming, error-prone and expensive to produce.

Unexplained disabling and long-lasting cough: a case report.

Background: A 51-year-old woman was referred to our department due to chronic dry cough lasting six years without an etiological diagnosis. The patient suffered from chronic deterioration in her quality of life due to a persistent cough that sounded like a barking seal.

Case Presentation: A severe form of malacia involving the inferior third of trachea and the main bronchi was diagnosed.

Posterior thigh compartment syndrome secondary to proximal hamstring avulsion.

Introduction: Thigh compartment syndrome is a rare clinical entity that requires urgent medical and surgical management due to its potentially severe medical and legal consequences. Although it typically affects a classic patient demographic-most often a young adult following a traffic accident.

Presentation Of Case: This case is unique in that it stems from a compressive hematoma secondary to an avulsion of the proximal hamstring tendon.

Are ultrasound salivary parenchymal lesions more severe in primary Sjögren patients with a longer disease duration? A cross-sectional study.

Objectives: Salivary gland ultrasound (SGUS) has an interest in primary Sjögren's disease (pSD) for diagnosis, but the evolution of parenchymal lesions over time is unknown. The objective of this study was to assess the severity of ultrasound abnormalities in relation to pSD duration from the time of buccal dryness onset.

Methods: In this cross-sectional international multicentre study, patients with pSD according to the 2002 or 2016 ACR/EULAR classification criteria were included.

Anti Phospholipase A2 Receptor 1 Antibodies and Membranous Nephropathy Recurrence After Kidney Transplantation.

Introduction: Membranous nephropathy can lead to end-stage kidney disease, for which kidney transplantation is the preferred therapy. However, the disease often relapses, which can impact allograft survival.

Methods: We conducted a prospective multicenter study in France involving 72 patients with membranous nephropathy who were awaiting and then underwent kidney transplantation.

Plasma transfusion in the intensive care unit.

Background: Current guidelines discourage prophylactic plasma use in non-bleeding patients. This study assesses global plasma transfusion practices in the intensive care unit (ICU) and their alignment with current guidelines.

Study Design And Methods: This was a sub-study of an international, prospective, observational cohort.

Dose to cardiac substructures and cardiovascular events in esophageal cancer patients treated with definitive radiotherapy.

Introduction: While there is a growing amount of data on the cardiac toxicity of radiotherapy (RT) in relation to its impact on cardiac sub-structures (CSS), there are only few studies addressing this issue in patients followed for esophageal cancer (ESOC). We aimed to evaluate the association between independent parameters of dose received by CSS and major cardiac events (MACEs) in this population.

Materials And Methods: We retrospectively analyzed 122 patients treated with exclusive RT or chemo-RT for ESOC.

Validation of a didactic model evaluating the usability, usefulness and acceptability of psychological first aid teaching through simulation.

Purpose: To evaluate the effectiveness of simulation as a means to teach Psychological First Aid in Operations (PFA-O). We propose to use a model built on research in didactics to assess the factors which may or may not encourage trainers to adopt and embrace this teaching technique.

Material And Method: We submitted a questionnaire to all PFA-O trainers working in France, comprising 15 criteria divided into three dimensions: usability, usefulness and acceptability.

Innovative population-based strategies for primary prevention of cardiovascular disease: A 2-year randomised control trial evaluating behavioral change led by community champions versus brief advice.

Cardiovascular diseases (CVD) caused 17.9 million deaths worldwide in 2019. General CVD prevention should be developed whilst controlling health expenditure.

Modelling acoustic propagation in realistic ocean through a time-domain environment-resolving ocean model.

The new generation of non-hydrostatic and compressible numerical models of the ocean can explicitly simulate acoustic waves when and where space and time resolution is adapted. We show that these models can consequently propagate accurately acoustic waves and modes through a free-surface, stratified ocean evolving simultaneously both in space and time, bringing them to the state of the art of acoustic propagation modelling. To some extent, both numerical cost and memory footprint may temper their range of applications but they are an unprecedented tool to evaluate deterministically the effects of ocean variability on low-frequency acoustic propagation in a realistically-evolving ocean.

Doxorubicin inhibits SIRT2 and NF-kB p65 phosphorylation in Brest cell-line cancer.

Doxorubicin (DOXO) is a widely used anti-cancer agent, yet the precise mechanism underlying the induction of tumor cell death remains unclear. This study aimed to elucidate new mechanisms by which doxorubicin induces apoptosis in the EMT6 mouse breast carcinoma cell line. The role of doxorubicin was assessed using the XTT assay.

L-MAE: Longitudinal masked auto-encoder with time and severity-aware encoding for diabetic retinopathy progression prediction.

Pre-training strategies based on self-supervised learning (SSL) have demonstrated success as pretext tasks for downstream tasks in computer vision. However, while SSL methods are often domain-agnostic, their direct application to medical imaging is challenging due to the distinct nature of medical images, including specific anatomical and temporal patterns relevant to disease progression. Additionally, traditional SSL pretext tasks often lack the contextual knowledge that is essential for clinical decision support.

Advanced Hybrid Closed Loop Algorithm Use in Type 1 Diabetes: The French MiniMed™ Glycemic Control and Quality of Life Study.

Introduction: The MiniMed™ 780G system uses an advanced hybrid closed loop algorithm to improve outcomes in people with type 1 diabetes (T1D). The MiniMed™ 780G Glycemic Control and Quality of Life (EQOL) study aimed to provide routine clinical practice data on system effectiveness and associated patient-reported outcomes (PROs) in France.

Methods: Individuals aged ≥ 7 years with T1D were enrolled.

Chemocatalytic Conversion of Dinitrogen to Ammonia Mediated by a Tungsten Complex.

Whereas molybdenum dinitrogen complexes have played a major role as catalytic model systems of nitrogenase, corresponding tungsten complexes were in most cases found to be catalytically inactive. Herein, we present a modified pentadentate tetrapodal (pentaPod) phosphine ligand in which two dimethylphosphine groups of the pentaPod (P5) ligand have been replaced with phospholanes (Pln). The derived molybdenum complex [Mo(N)P5] generates 22 and the analogous tungsten complex [W(N)P5] 7 equivalents of NH from N in the presence of 180 equivalents of SmI(THF)/HO, rendering the latter the first tungsten complex chemocatalytically converting N to NH.

Genomic Landscape of Thrombosis Recurrence Risk Across Venous Thromboembolism Subtypes.

Venous thromboembolism (VT) is a frequent (annual incidence of 1 to 2 per 1,000) and potentially life-threatening (case-fatality rate up to 10%) disease. VT is associated with serious short-term and long-term complications including a recurrence rate of approximately 20% within five years. Anticoagulant therapy, the mainstay of VT treatment, drastically reduces the risk of early VT recurrence, but it exposes patients to a substantial risk of bleeding.

Polystyrene nanoplastics impact the bioenergetics of developing zebrafish and limit molecular and physiological adaptive responses to acute temperature stress.

Plastic pollution is a growing environmental concern due to its ubiquitous impact on aquatic ecosystems. Nanoplastics can be generated from the breakdown of plastic waste and interact with organisms at the cellular level, potentially disrupting cellular physiology. We investigated the effects of 44 nm polystyrene nanoparticles (44 nm NanoPS) on the development and physiology of zebrafish (Danio rerio) in the presence of sublethal heat stress (32 °C vs control, 28 °C).

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.

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.

Efficacy and Tolerability of Tebentafusp in Metastatic Uveal Melanoma: A Real-life Retrospective Multicentre Study.

Metastatic uveal melanoma is a rare disease with a poor prognosis. Usual treatments have not proven effective. Tebentafusp, a bispecific protein targeting melanoma cells and T lymphocytes, is the first approved treatment with a proven survival benefit in a randomized clinical.