Epigenetic control of myogenic identity of human muscle stem cells in Duchenne muscular dystrophy.

In Duchenne muscular dystrophy (DMD), muscle stem cells' (MuSCs) regenerative capacities are overwhelmed leading to fibrosis. Whether MuSCs have intrinsic defects or are disrupted by their environment is unclear. We investigated cell behavior and gene expression of MuSCs from DMD or healthy human muscles.

Fatherhood experiences: A qualitative approach of cisgender and transgender fathers in assisted reproductive technologies (ART) situation with sperm donation.

Assisted reproductive technologies have offered new ways and pathways to conceive a child. However, very few is known about insights into the complexities and challenges faced by trans fathers in contemporary parenthood journeys. This qualitative study explores the experiences of transgender and cisgender fathers who conceived children through donor sperm insemination (DSI) and natural conception (NC).

Safety and immunogenicity of CD40.HIVRI.Env, a dendritic cell-based HIV vaccine, in healthy HIV-uninfected adults: a first-in-human randomized, placebo-controlled, dose-escalation study (ANRS VRI06).

Background: Current HIV prophylactic vaccines evaluate HIV Env as purified proteins. CD40.HIVRI.

COVID-19 and Oncofertility: No SARS-CoV-2 in Semen but Inflammation Seems to Affect Sperm Parameters.

The COVID-19 pandemic, driven by SARS-CoV-2, led authorities to recommend halting assisted reproductive technology programs, focusing instead on fertility preservation, for cancer patients. The presence of SARS-CoV-2 in semen remains controversial. This multicentric prospective cohort study, conducted across 12 university medical centers, aimed to determine if SARS-CoV-2 is present in spermatozoa/seminal plasma in cancer patients by RT-PCR and to assess its impact on standard semen parameters.

Can Morphology and Immune Infiltration Predict the Homologous Recombination Deficiency Status in Newly Diagnosed High-Grade Serous Ovarian Carcinoma?

Context.—: A correlation between the morphology of ovarian high-grade serous carcinomas (HGSOCs) and BRCA mutations has been previously reported.

Objective.

Efficacy and safety of intra-articular botulinum toxin injection therapy for joint pain: A systematic review and meta-analysis.

Background: Studies conducted in various animal models of joint pain showed an anti-nociceptive effect of intra-articular botulinum toxin type A (BoNT-A). Randomized controlled trials (RCTs) in humans suggest a potential effect but results are disparate.

Objectives: To assess the efficacy and safety of intra-articular BoNT-A for the treatment of joint pain.

Current landscape of monogenic autoinflammatory actinopathies: A literature review.

Autoinflammatory diseases (AID) are conditions leading to a hyperactivation of innate immunity without any underlying infection, and may be poly- (e.g. Still's disease) or monogenic.

[Support for the mother-child relationship during total denial of pregnancy: Midwives' point of view].

Objectives: Total pregnancy denial is a phenomenon where the woman does not recognize her pregnancy until a late stage, sometimes just before childbirth. These complex situations raise many questions about the support of the mother-child dyad. This qualitative study aims to describe the experiences and strategies of midwives when dealing with cases of total pregnancy denial, as well as the relational dynamics within these particular dyads, in order to identify avenues for appropriate care.

GOLD Science Committee recommendations for the use of pre- and post-bronchodilator spirometry for the diagnosis of COPD.

The Global initiative for chronic Obstructive Lung Disease (GOLD) report states that the diagnosis of chronic obstructive pulmonary disease (COPD) should be considered in individuals with chronic respiratory symptoms and / or exposure to risk factors. Forced spirometry demonstrating airflow obstruction after bronchodilation is required to confirm the diagnosis using a threshold of forced expiratory volume in 1 s (FEV) / forced vital capacity (FVC) ratio<0.7.

Arm elevation involves changes in the whole spine: an exploratory study using EOS imaging.

Background: Few studies have assessed the participation of the spine in arm elevation. The primary aim of this exploratory study was to specify spinal movements during unilateral arm elevation.

Methods: We used an EOS imaging system to assess 2D global posture (Sagittal Vertical Axis [SVA], T1 and T9 tilt and Central Sacral Line [CSL]) and segmental spine curves (C3-C7 in the sagittal plane only, and T1-T6, T7-T12 and L1-L5 in the sagittal and frontal planes) for four different left arm elevation levels: in the sagittal (Sa) plane (30°Sa: reference position, 140°Sa and 180°Sa), and in the scapular (Sc) plane (180°Sc), in ten right-handed asymptomatic participants (5 women; mean age 24.

Prenatal Exposure to Proton Pump Inhibitors and Risk of Serious Infections in Offspring During the First Year of Life: A Nationwide Cohort Study.

Introduction And Objective: Proton pump inhibitor (PPI) use in children increases the risk of infections, prompting inquiry into the impact of prenatal PPIs exposure on serious infections in offspring. As a research gap in this area exists, this study aimed to address it by assessing the association between prenatal PPIs exposure and serious infections in infants during their first year of life.

Methods: Using the French health insurance data warehouse (SNDS) (2013-2018), we conducted a retrospective cohort study on singleton, full-term liveborn non-immunocompromised infants, stratified by PPI use during the first three months of life (early-life use).

Beta-Lactam Antibiotic Exposure During Pediatric Extracorporeal Membrane Oxygenation: Retrospective Cohort Analysis of Drug Levels Using Standard Dosing, 2018-2020.

Objectives: Children on extracorporeal membrane oxygenation (ECMO) are at high risk of infection that may worsen prognosis. Even though treatment with beta-lactam antibiotics is frequent, dosing is not adapted to altered pharmacokinetic and pharmacodynamic characteristics of children on ECMO. There is, therefore, a risk of inadequate drug levels when using standard dosing.

Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.

Retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache (ROSAH) syndrome is an autosomal dominant disorder and to date is known to be caused by either the Thr237Met or Tyr254Cys variant in the protein kinase ALPK1. Here, we identify a family in which ROSAH syndrome is caused by a novel variant in which Ser277 is changed to Phe. All six patients examined display ocular inflammation and optic nerve elevation, four have retinal degeneration and four are registered blind.

Skin-brain dialogue in auto-inflammatory diseases: A new route to biomarkers?

Autoinflammatory diseases (AID) are rare systemic inflammatory disorders due to monogenic or polygenic dysfunction of innate immunity. They affect many organs including the brain and the skin. The spectrum of these diseases has been rapidly expanding recently due to newly developed diagnostic tools.

Hepatitis E virus infection after CAR T-cell treatment: An important complication in patients already facing significant health challenges.

Cancer patients with haematological malignancies are at risk for chronic hepatitis E virus infection following chimeric antigen receptor (CAR) T-cell therapy. Strong clinical suspicion is essential for the early diagnosis and prompt treatment of this difficult-to-treat type of viral hepatitis. Commentary on: Schwarz et al.

Real-world efficacy of the dabrafenib-trametinib (D-T) combination in BRAF V600E-mutated metastatic non-small cell lung cancer (NSCLC): Results from the IFCT-2004 BLaDE cohort.

Background: BRAF V600E mutations occur in 2-5 % of advanced non-small cell lung cancer (NSCLC) patients. The dabrafenib-trametinib (D-T) combination was associated with improved and durable OS in patients in phase II. This study (IFCT-2004 BLaDE study) reported the efficacy of D-T combination in a large retrospective French real-world multicenter cohort of patients with advanced BRAF V600E-mutated NSCLC.

NSAID exposure delays time-to-pregnancy in patients with spondyloarthritis: an analysis of the GR2 prospective cohort.

Background: The impact of disease activity and treatment on fertility outcomes in patients with spondyloarthritis (SpA) has been little explored. This study aimed to describe median time to pregnancy (TTP) in women with SpA and the factors influencing TTP in this population.

Methods: This prospective observational multicentre (63 centres) French cohort (GR2 study-NCT02450396) included consecutive women with a diagnosis of SpA (according to their rheumatologist) who wanted to become pregnant between 2015 and 2021.

Expert consensus recommendations for the diagnosis and treatment of chronic non-bacterial osteitis (CNO) in adults.

Background: There is considerable practice variation in labelling, diagnosis and treatment of adults with sterile bone inflammation. We developed a expert consensus recommendations on the disease definition, diagnosis and treatment of this rare condition.

Methods: Systematic literature review and Grading of Recommendations, Assessment, Development and Evaluations-based appraisal of evidence, two Delphi surveys and three digital and in-person consensus meetings with a multidisciplinary expert panel and patient representatives.

Expansion of interventional endoscopy and day-case procedures: A nationwide longitudinal study of gastrointestinal endoscopy in France.

Background: An accurate assessment of the evolution of GI endoscopy volumes is warranted to identify long-term trends and to help anticipate training, infrastructure and human resource needs. The main objective of this longitudinal study was to evaluate the evolution of GI endoscopy in France.

Methods: This retrospective study consisted of a cross-sectional analysis repeated each year from 2008 to 2018 using data from a national health database related to hospital admissions.