Baricitinib in early polymyalgia rheumatica (BACHELOR): a randomised, double-blind, placebo-controlled, parallel-group trial.

Background: Moderate doses of glucocorticoids result in improvements in nearly all patients with polymyalgia rheumatica, but related adverse events are common in older individuals. We aimed to evaluate whether treatment with baricitinib (a Janus kinase 1/2 inhibitor) results in disease control without the use of oral glucocorticoids in people with recent-onset polymyalgia rheumatica.

Methods: We conducted a randomised, double-blind, placebo-controlled, parallel-group trial at six expert centres in France.

Airway Mycobiota-Microbiota During Pulmonary Exacerbation of Cystic Fibrosis Patients: A Culture and Targeted Sequencing Study.

Background: The airways of patients with cystic fibrosis (pwCF) harbour complex fungal and bacterial microbiota involved in pulmonary exacerbations (PEx) and requiring antimicrobial treatment. Descriptive studies analysing bacterial and fungal microbiota concomitantly are scarce, especially using both culture and high-throughput-sequencing (HTS).

Objectives: We analysed bacterial-fungal microbiota and inter-kingdom correlations in two French CF centres according to clinical parameters and antimicrobial choices.

Determinants of Dropout From a Virtual Agent-Based App for Insomnia Management in a Self-Selected Sample of Users With Insomnia Symptoms: Longitudinal Study.

Background: Fully automated digital interventions delivered via smartphone apps have proven efficacious for a wide variety of mental health outcomes. An important aspect is that they are accessible at a low cost, thereby increasing their potential public impact and reducing disparities. However, a major challenge to their successful implementation is the phenomenon of users dropping out early.

FRED-EPI study: Safety and efficacy of FRED/FRED Jr aneurysm treatment in current clinical practice.

Objective: Flow diversion is increasingly used as an endovascular treatment for intracranial aneurysms. FRED-EPI is a prospective, multicenter, French study, conducted to analyze the safety and efficacy of aneurysm treatment with FRED/FRED Jr (Microvention, AlisoViejo, CA, USA) in current clinical practice.

Patients And Methods: Patients with intracranial aneurysms treated with FRED and FRED Jr who agreed to participate were prospectively and consecutively included in all French centers using these devices.

Machine learning can predict surgical indication: new clustering model from a large adult spine deformity database.

Purpose: The choice of the best management for Adult Spine Deformity (ASD) is challenging. Health-related quality of life (HRQoL), comorbidities, symptoms and spine geometry, along with surgical risk and potential residual disability play a role, and a definite algorithm for patient management is lacking. Machine learning allows to analyse complex settings more efficiently than other available statistical tools.

Efficacy and safety of the PHIL embolic agent in the treatment of intracranial dural arteriovenous fistulas: results of the PHIL-dAVF study.

Background And Purpose: Embolization is the first-line treatment for dural arteriovenous fistulas (dAVF). The precipitating hydrophobic injectable liquid (PHIL) embolic agent is a non-adhesive copolymer with specific features and endovascular behavior. This study assessed its safety and efficacy in a prospective real-life cohort.

Pulmonary Consequences of Surgical Treatment in Children's Primary Lung Tumors: A National Retrospective Study.

Background And Aims: Primary lung tumors (PLTs) in children are rare, and surgery remains the key to ensure remission. Here we describe the PLTs clinical characteristics, their management, and the pulmonary outcome following surgery.

Methods: We carried out a French national cohort of pediatric PLTs from 2013 to 2023 from the FRACTURE rare pediatric tumors national database.

Effect of maternal beta-blocker treatment on mean fetal heart rate.

Background: During pregnancy, the prescription of beta-blockers to the mother may be necessary for pre-existing chronic conditions. Their use raises concerns due to potential effects on the fetus.

Objectives: This study aimed to investigate the impact of beta-blockers on mean fetal heart rate in pregnant women treated with these medications compared to an untreated patient group.

Anakinra as a first-line therapy for systemic juvenile idiopathic arthritis when nonsteroidal anti-inflammatory drug treatment fails: A single-center French retrospective study.

Introduction: Anakinra has dramatically improved the management of systemic juvenile idiopathic arthritis (SJIA) over the last decade. Nevertheless, management remains inconsistent; corticosteroids are still frequently used. We analyzed the course of SJIA in children treated with anakinra according to the time of treatment initiation after disease onset.

Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification.

Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

Conventional radiography for the assessment of focal bone lesions of the appendicular skeleton: fundamental concepts in the modern imaging era.

Bone lesions of the appendicular skeleton can be caused by primary benign or malignant tumors, metastases, osteomyelitis, or pseudotumors. Conventional radiography plays a crucial role in the initial assessment of osseous lesions and should not be underestimated even in this era of modern complex and advanced imaging technologies. Combined with patient age, clinical symptoms and biology, and lesion features including location, solitary versus multiplicity, density, margin (transitional zone evaluated with Lodwick-Madewell grading score), and, if present, the type of periosteal reaction and matrix mineralization can narrow the differential diagnosis or offer a likely diagnosis.

Randomized controlled trials - The what, when, how and why.

Randomized controlled trials (RCTs) are at the top of the pyramid of evidence as they offer the best answer on the efficacy of a new treatment. RCTs are true experiments in which participants are randomly allocated to receive a certain intervention (experimental group) or a different intervention (comparison group), or no treatment at all (control or placebo group). Randomization, along with other methodological features such as blinding and allocation concealment, safeguard against biases.

[Cataract surgery training in France: Analysis of the results of the European Board of Ophthalmology survey in the French cohort].

Objective: This study aims to present and analyze the results of the French cohort in a European Board of Ophthalmology (EBO) survey on cataract surgical training in Europe, highlighting the particularities of French training.

Materials And Methods: A 23-question electronic questionnaire was sent to interns applying for the EBO examination from 2018 to 2022. Responses from French participants were specifically collected and analyzed.

Incidence and risk factors of graft failure in allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis in a nationwide pediatric cohort. A study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy.

Context: Mucopolysaccharidosis (MPS) requires urgent treatment to prevent neurological damage. While gene therapy holds promise for effectively treating these diseases with minimal toxicity, access remains limited for most patients. Consequently, advancing allogeneic hematopoietic stem cell transplantation (HSCT) for young children is crucial.

The Neuroprotective Effect of the X Protein of Orthobornavirus Bornaense Type 1 in Amyotrophic Lateral Sclerosis.

In amyotrophic lateral sclerosis (ALS), early mitochondrial dysfunction may contribute to progressive motor neuron loss. Remarkably, the ectopic expression of the Orthobornavirus bornaense type 1 (BoDV-1) X protein in mitochondria blocks apoptosis and protects neurons from degeneration. Therefore, this study examines the neuroprotective effects of X protein in an ALS mouse model.

Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Knockout Mice.

Adenosine deaminase acting on RNA 1 (ADAR1) is the principal enzyme for the adenosine-to-inosine RNA editing that prevents the aberrant activation of cytosolic nucleic acid sensors by endogenous double stranded RNAs and the activation of interferon-stimulated genes. In mice, the conditional neural crest deletion of reduces the survival of melanocytes and alters the differentiation of Schwann cells that fail to myelinate nerve fibers in the peripheral nervous system. These myelination defects are partially rescued upon the concomitant removal of the Mda5 antiviral dsRNA sensor in vitro, suggesting implication of the Mda5/Mavs pathway and downstream effectors in the genesis of mutant phenotypes.

Real-world multicentre study of cefiderocol treatment of immunocompromised patients with infections caused by multidrug-resistant Gram-negative bacteria: CEFI-ID.

Introduction: The increase in the population of immunocompromised patients due to advances in management of end-stage diseases and transplants poses challenges in treating infections caused by multi-drug resistant (MDR) pathogens. Cefiderocol (FDC), a siderophore cephalosporin, has shown efficacy against carbapenem-resistant Gram-negative bacteria.

Methods: This retrospective multicentre study investigated the real-world use of FDC in 114 immunocompromised adults treated for MDR infections in 12 French hospitals (June 2020-November 2023).

[Medical simulation training for bone marrow harvesting from a healthy donor for an allogeneic hematopoietic cell transplant (SFGM-TC)].

This workshop presents the recommendations of the Société francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC) for simulation-based training on bone marrow harvesting from healthy donors. Due to the decline in bone marrow harvests in favor of peripheral stem cells, a loss of expertise has been observed among younger hematologists. The training consists of an online theoretical component and a hands-on workshop using a mannequin at the PRESAGE simulation center at the Lille University School of Medicine.