Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Evaluation of the predictive value of CSF-restricted oligoclonal bands on residual disability and risk of relapse in adult patients with MOGAD: MOGADOC study.

Background: The clinical course of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is variable. However, robust markers of poor outcome and/or relapse risk are still missing.

Objective: To evaluate the frequency of cerebrospinal fluid-restricted oligoclonal bands (CSF-OCB) in a national cohort of adult MOGAD patients and to assess their prognostic value for the risk of relapse and severity.

A patient with TPCN2-related hypopigmentation and ocular phenotype.

Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

Standardized Outcomes for Randomized Controlled Trials Targeting Early Interventions in Patients With Moderate-to-Severe Traumatic Brain Injury: Protocol for the Development of a Core Outcome Set.

Background: : With more than 60 million new cases around the world each year, traumatic brain injury (TBI) causes substantial mortality and morbidity. Managing TBI is a major human, social, and economic concern. In the last 20 years, there has been an increase in clinical trials in neurocritical care, leading mostly to negative results.

Virtual reality in clinical evaluation of Unilateral Spatial Neglect, anatomy of current trends: A scoping review.

Background: Virtual technologies (VR) could respond to several challenges in Unilateral Spatial Neglect (USN) assessment, particularly the lack of sensitivity and ecological validity of traditional paper-and-pencil tests. A scoping review was conducted to explore current trends in this area.

Methods: PubMed, EMBASE, PsycINFO, Web of Science, IEEE, ACM, and the Cochrane Library were systematically searched for VR USN assessment.

Association between urate-lowering therapy and kidney failure in patients with chronic kidney disease.

Background: Hyperuricemia is a hallmark of gout and a suspected risk factor for the progression of chronic kidney disease (CKD). However, the impact of urate-lowering therapy on CKD progression is subject to debate. The objective of the present study was to describe the prevalence of inappropriate urate-lowering therapy prescriptions and evaluate the association between urate-lowering therapy prescription and the progression of kidney disease in patients with CKD.

Safety and Clinical Efficacy of Prostatic Artery Embolization in Patients with Indwelling Urinary Catheter for Benign Hyperplasia-A Multicenter Study.

: This multicentric study aimed to evaluate the efficacy and safety of prostatic artery embolization (PAE) to remove indwelling urinary catheter (IUC) in patients with symptomatic benign prostatic hyperplasia (BPH). Secondary objectives were to identify features associated with post-PAE catheter-free survival (PCFS). : All consecutive patients who underwent PAE for IUC related to BPH with a follow-up of at least 2 years (except for early death) in 6 French University Hospitals were retrospectively included.

Profile and Usefulness of Serum Cytokines to Predict Prognosis in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.

Objectives: To characterize the serum cytokine profile in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) at onset and during follow-up and assess their utility for predicting relapses and disability.

Methods: This retrospective multicentric cohort study included patients aged 16 years and older meeting MOGAD 2023 criteria, with serum samples collected at baseline (≤3 months from disease onset) and follow-up (≥6 months from the baseline), and age-matched and time to sampling-matched patients with multiple sclerosis (MS). Eleven cytokines were assessed using the ELLA system.

Systematic literature review and meta-analysis informing the EULAR points to consider on the initiation of targeted therapies in patients with inflammatory arthritis and a history of cancer.

Background: Targeted therapies have been associated with potential risk of malignancy, which is a common concern in daily rheumatology practice in patients with inflammatory arthritis (IA) and a history of cancer.

Objectives: To perform a systematic literature review to inform a Task Force formulating EULAR points to consider on the initiation of targeted therapies in patients with IA and a history of cancer.

Methods: Specific research questions were defined within the Task Force before formulating the exact research queries with a librarian.

2024 EULAR points to consider on the initiation of targeted therapies in patients with inflammatory arthritis and a history of cancer.

Background: Potential associations between targeted therapies and a new cancer in patients with inflammatory arthritis (IA) and a previous malignancy are a frequent concern in daily rheumatology practice.

Objectives: To develop points to consider (PTC) to assist rheumatologists when initiating a targeted therapy in the context of a previous malignancy.

Methods: Following EULAR standardised operating procedures, a task force met to define the research questions for a systematic literature review and to formulate the overarching principles (OPs) and the PTC.

Percutaneous Magnetic Resonance Imaging-Guided Focal Laser Ablation (MRI-FLA) of Prostate Tumors: A Systematic Review and Network Meta-Analysis.

MRI-guided focal laser ablation (MRI-FLA) is an emerging minimally invasive technique for treating localized prostate tumors, aiming to provide effective cancer control while minimizing side effects. This meta-analysis systematically evaluates the clinical outcomes, technical efficacy, and complication rates associated with MRI-FLA to better understand its therapeutic potential and safety profile in prostate cancer management. In July 2024, PubMed (MEDLINE) was searched for eligible trials using the PRISMA guidelines.

Efficacy and Safety of Bintrafusp Alfa, a Bifunctional Fusion Protein Targeting Transforming Growth Factor-β and Programmed Death-Ligand 1, Plus Chemotherapy in Patients With Stage IV NSCLC.

Introduction: In a phase 1 study, bintrafusp alfa was found to have an encouraging clinical activity in patients with previously treated advanced NSCLC. This study evaluated the safety and efficacy of bintrafusp alfa with chemotherapy in patients with stage IV NSCLC regardless of the programmed death-ligand 1 (PD-L1) expression status.

Methods: In this open-label, phase 1b/2 study (NCT03840915), eligible patients were assigned to one of four cohorts.

Transcatheter aortic valve replacement in aortic stenosis patients with New York Heart Association functional class III or IV.

Background: Patients with symptomatic aortic stenosis are a vulnerable population with associated cardiac damage and a significant comorbidity burden. This study aimed to determine the rate, factors associated with, and prognostic value of poor functional status (NYHA class III-IV) in patients with severe aortic stenosis undergoing transcatheter aortic valve replacement (TAVR).

Methods: This multicenter study included 6,363 transarterial TAVR patients, classified according to baseline functional status (NYHA class I-II vs.

Safety of Fertility Treatments in Women With Systemic Lupus Erythematosus: Data From a Prospective Population-Based Study.

Objective: To assess safety of fertility treatments in women with systemic lupus erythematosus (SLE).

Design: Data from the multicentre French observational GR2 (Groupe de Recherche sur la Grossesse et les Maladies Rares) study (2014-ongoing).

Setting: Seventy-six centres in France.

A new generation of non-invasive tests of liver fibrosis with improved accuracy in MASLD.

Background & Aims: The accuracy of non-invasive tests (NITs) should be ≥80% (EASL recommendation). We aimed to compare the accuracies of the recommended NITs for advanced fibrosis in MASLD and improve NIT accuracy.

Methods: 1051 MASLD patients were allocated to derivation (n=637) and validation (n=414) sets.

TransCatheter aortic valve implantation and fractional flow reserve-guided percutaneous coronary intervention versus conventional surgical aortic valve replacement and coronary bypass grafting for treatment of patients with aortic valve stenosis and complex or multivessel coronary disease (TCW): an international, multicentre, prospective, open-label, non-inferiority, randomised controlled trial.

Background: Patients with severe aortic stenosis present frequently (∼50%) with concomitant obstructive coronary artery disease. Current guidelines recommend combined surgical aortic valve replacement (SAVR) and coronary artery bypass grafting (CABG) as the preferred treatment. Transcatheter aortic valve implantation (TAVI) and fractional flow reserve (FFR)-guided percutaneous coronary intervention (PCI) represent a valid treatment alternative.

MRI management of NMOSD and MOGAD: Proposals from the French Expert Group NOMADMUS.

Background: Currently, there are no available recommendations or guidelines on how to perform MRI monitoring in the management of neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The issue is to determine a valuable MRI monitoring protocol to be applied in the management of NMOSD and MOGAD, as previously proposed for the monitoring of multiple sclerosis.

Objectives: The objectives of this work are to establish proposals for a standardized and feasible MRI acquisition protocol, and to propose control time points for systematic MRI monitoring in the management of NMOSD and MOGAD.

Thyroidectomy without radioiodine in patients with low-risk thyroid cancer: 5 years of follow-up of the prospective randomised ESTIMABL2 trial.

Background: ESTIMABL2, a multicentre randomised phase 3 trial in patients with low-risk differentiated thyroid cancer (ie, pT1am or pT1b, N0 [no evidence of regional nodal involvement] or Nx [involvement of regional lymph nodes that cannot be assessed in the absence of neck dissection]), showed the non-inferiority of a follow-up strategy without radioactive iodine (I) administration compared with a postoperative I administration at 3 years post-randomisation. Here, we report a pre-specified analysis after 5 years of follow-up.

Methods: Patients treated with total thyroidectomy with or without prophylactic neck lymph node dissection, without postoperative suspicious findings on neck ultrasonography, were randomly assigned to the no-radioiodine group or to the radioiodine group (1·1 GBq-30 mCi after recombinant human thyrotropin-stimulating hormone).

French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten.

Mavacamten, the first drug in the class of β-cardiac myosin modulator, is used for the treatment of patients with hypertrophic cardiomyopathy. This orally administered drug demonstrates wide interpatient variability in pharmacokinetics parameters, due in part to variant CYP2C19 alleles. Individuals who are CYP2C19 poor metabolizers have increased exposure and are at increased risk of reduced cardiac hypercontractility.