Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.

Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.

National Cohort of Compassionate Use of Meropenem-Vaborbactam: No Benefit over Meropenem for .

Background: Meropenem-vaborbactam (MEM-VAB) is a novel carbapenem-beta-lactamase-inhibitor combination that demonstrates activity against carbapenem-resistant (CR) Gram-negative bacteria, and more specifically KPC-producers, since vaborbactam is an effective inhibitor of KPC enzymes in vitro. This study aimed to describe the initial uses and efficacy of MEM-VAB for compassionate treatment during the first 21 months following its early access in France.

Method: A national multicenter retrospective study was conducted, including all patients who received at least one dose of MEM-VAB between 20 July 2020, and 5 April 2022.

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.

The Predict4All open-source word prediction and word correction engine in French language: a feasibility study.

Purpose: Information and communication technologies are crucial for social and professional integration, but access to technology can be difficult for people with physical impairments. Text entry can be slow and tiring. We developed a free and open-source module called for use with AAC (augmentative/alternative communication) software in French language.

-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.

Syphilis Should not be Overlooked in any Individual, Irrespective of their Condition.

Introduction: Syphilis remains a significant challenge in public health, largely because of its diverse clinical manifestations, often resulting in underdiagnosis especially among patients with neurogenic disability.

Case Description: We present a case of neurosyphilis in a 63-year-old patient with a spinal cord injury. Despite syphilis being a well-established sexually transmitted infection, the exacerbation of neurological and dermatological symptoms during physical examination prompted an investigation into alternative causes beyond the patient's pre-existing paraparesis, ultimately resulting in the diagnosis of neurosyphilis.

Brain growth until adolescence after a neonatal focal injury: sex related differences beyond lesion effect.

Introduction: Early focal brain injuries lead to long-term disabilities with frequent cognitive impairments, suggesting global dysfunction beyond the lesion. While plasticity of the immature brain promotes better learning, outcome variability across individuals is multifactorial. Males are more vulnerable to early injuries and neurodevelopmental disorders than females, but long-term sex differences in brain growth after an early focal lesion have not been described yet.

Percutaneous needle tenotomies: indications, procedures, efficacy and safety. A systematic review.

Background: Percutaneous needle tenotomies constitute a promising approach that enables direct access to tendons through minimally invasive interventions. They can be performed rapidly without need for large incisions or general anaesthesia. However, the reported procedures are heterogeneous and currently conducted without guidelines.

Exclusive oral antibiotic treatment for hospitalized community-acquired pneumonia: a post-hoc analysis of a randomized clinical trial.

Objectives: In this study, we aimed to assess the efficacy of different ways of administration and types of beta-lactams for hospitalized community-acquired pneumonia (CAP).

Methods: In this post-hoc analysis of randomized controlled trials (RCT) on patients hospitalized for CAP (pneumonia short treatment trial) comparing 3-day vs. 8-day durations of beta-lactams, which concluded to non-inferiority, we included patients who received either amoxicillin-clavulanate (AMC) or third-generation cephalosporin (3GC) regimens, and exclusively either intravenous or oral treatment for the first 3 days (followed by either 5 days of oral placebo or AMC according to randomization).

Gastric Signet Ring Cell Carcinoma Metastasis From Lobular Breast Cancer: A Diagnostic Pitfall.

Breast cancer is the most common type of cancer among women worldwide. Gastric metastasis from invasive lobular carcinoma of the breast is unusual. We report the case of a 66-year-old woman, under follow-up for an invasive classic lobular carcinoma of the left breast treated four years prior, who was admitted for upper abdominal discomfort and worsening constipation.