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.

Can Digital Rectal Examination Identify the Subtype of Dyssynergic Disorders as Well as High Resolution Anorectal Manometry?

Background And Aims: Diagnosing dyssynergic disorders (DD) often requires 3D high-definition anorectal manometry (3D-HRAM), raising concerns about cost, availability, and delayed referral. Digital rectal examination (DRE) offers a reliable, cost-effective alternative for DD diagnosis. This study aimed to assess DRE's capability to classify DD patients into the four subtypes outlined in Rao's classification.

Hypereosinophilia and Hypereosinophilic Syndromes: First Findings From a Nationwide Multicenter Cohort.

Background: Hypereosinophilic syndromes (HES) are a heterogenous group of eosinophilic disorders. To date, only retrospective studies of limited sample-size and/or follow-up duration are available.

Methods: The COHESion study is a national prospective multicenter multidisciplinary cohort recruiting both adults or children with the spectrum of eosinophilic disorders (including reactive HE/HES [HE/HES-R], idiopathic HES [HES-I], lymphocytic HES [HES-L], neoplastic HE/HES [HE/HES-N], HE of unknown significance [HE-US], as well as IgG4-related disease [IgG4RD] or ANCA-negative eosinophilic granulomatosis with polyangiitis [EGPA] overlaps).

Disrupting USP39 deubiquitinase function impairs the survival and migration of multiple myeloma cells through ZEB1 degradation.

Background: Multiple Myeloma (MM) is the second most common hematological malignancy, characterized by the accumulation of monoclonal plasmocytes in the bone marrow. Despite advancements with proteasome inhibitors, immunomodulatory agents, and CD38-targeting antibodies, MM remains largely incurable due to resistant clones and frequent relapses. The success of the proteasome inhibitor bortezomib (BTZ) in MM treatment highlights the critical role of the ubiquitin-proteasome system (UPS) in this disease.

CLEC12B regulates melanocyte immunity and homeostasis in the skin through the STAT1/IRF1 axis.

CLEC12B is a C-type lectin receptor involved in the inhibition of natural killers-mediated cytotoxicity. We have previously shown that CLEC12B is predominantly expressed on melanocytes, inhibits melanin production and pigmentation as well as proliferation of melanoma. To date, the role of CLEC12B in skin immunity is unknown.

Spatial distribution of SARS-CoV-2 incidence, social inequality, housing conditions, and density in South-Eastern France: keys for future epidemics.

Introduction: Early in 2021, the SARS-CoV-2 incidence rate was higher in the East than in the West of the Alpes-Maritimes district in France. What was the impact of social deprivation, household overcrowding and population density per km on this difference in incidence rate?

Methods: Cases were defined as persons with a first SARS-CoV-2 positive test detected between 04/01/2021 and 14/02/2021. We studied the « French Deprivation index » (FDep), rate of overcrowded households and population density/km.

Ultrasound-Guided Percutaneous Fasciotomies for Patients With Chronic Exertional Compartment Syndrome.

Chronic exertional compartment syndrome is a well-described potential cause of leg pain in high-level athletes and soldiers. Surgical treatment of chronic exertional compartment syndrome usually involves fasciotomy, with a reported rate of complications of up to 16%, including failure of complete compartmental release and delayed return to normal daily activity, which can take up to 6 to 12 weeks. The use of a minimally invasive approach under ultrasound guidance seems to improve clinical outcomes in young active patients.

What is the lower limb length discrepancy after arthroplasty for proximal femoral fracture? A prospective, multicenter observational study of 590 hips.

Introduction: Lower limb length discrepancy (LLD) following hip arthroplasty after proximal femoral fracture (PFFA) is little studied. The aim of this work was to answer the following questions: 1) What are the incidence and mean values ​​of LLD after PFFA? 2) What are the clinical consequences (tolerance) of LLD after PFFA? 3) Can we identify risk factors for LLD after PFFA? 4) Is there a significant difference in terms of LLD after PFFA to treat intra- versus extra-capsular fractures?

Hypothesis: LLD after proximal femoral fracture arthroplasty is rare but has good clinical tolerance, given the low functional demands of the patients.

Patients And Methods: This is a multicenter prospective observational cohort study (15 centers), including 590 patients, operated on for hip arthroplasty for proximal femur fracture between May 2022 and June 2023.

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.

Urge fecal incontinence: are intramural rectal injections of botulinum toxin a long-term treatment option?

Background And Aims: Unsuccessful first-line conservative treatments for managing fecal incontinence (FI) lead to considering predominantly invasive options, posing challenges in terms of cost and patient acceptance of benefit/risk ratio. Recent data from a prospective randomized study have highlighted intramural rectal botulinum toxin (BoNT/A) injection as a promising minimally invasive alternative for urge FI, demonstrating efficacy at 3 months but lacking long-term evidence. This study aimed to evaluate the sustained efficacy and injection frequency of intramural rectal BoNT/A injection in the treatment of urge FI.

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.

A Salivary Clear Cell Tumor With an Unclear Diagnosis: A Report of a Rare Case.

The histopathological diagnosis of salivary tumors is considered complex, due to their histological, phenotypic, and genotypic diversity. There are numerous tumors with morphological and/or immunohistochemical aspects that are superimposable but require very different treatment. In this context, salivary lesions containing clear cells are numerous and form part of the diagnostic challenges.

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Background: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.

Objectives: We report the results of a panel strategy after 3 years of application.

Update of French migraine epidemiology: A narrative review.

This narrative review concerned the studies performed on representative samples of the French general population carried out over more than thirty years and aims to provide an update on the French migraine epidemiology. Eleven studies were selected (GRIM-1, MIG-ACCESS, GRIM-2, FRAMIG-2000, FRAMIG-3, GRIM-3, EUROLIGHT, IBMS, SNDS PACA/CORSICA, EGB FRANCE, CaMEO-I). The data extracted relates to four healings: prevalence and distribution, individual burden, recognition and care and societal burden.

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.

Azacitidine and venetoclax with or without pevonedistat in patients with newly diagnosed acute myeloid leukemia.

Unlabelled: This phase 2 study investigated pevonedistat + azacitidine + venetoclax ( = 83) versus azacitidine + venetoclax ( = 81) in patients with newly diagnosed acute myeloid leukemia (AML) ineligible for intensive chemotherapy. The study was stopped early following negative results from PANTHER, which evaluated pevonedistat in higher-risk myelodysplastic syndromes/chronic myelomonocytic leukemia or low-blast AML. Outcomes were analyzed up to the datacut.

Differentiating Separate Primary Lung Adenocarcinomas From Intrapulmonary Metastases With Emphasis on Pathological and Molecular Considerations: Recommendations From the International Association for the Study of Lung Cancer Pathology Committee.

Introduction: With the implementation of low-dose computed tomography screening, multiple pulmonary tumor nodules are diagnosed with increasing frequency and the selection of surgical treatments versus systemic therapies has become challenging on a daily basis in clinical practice. In the presence of multiple carcinomas, especially adenocarcinomas, pathologically determined to be of pulmonary origin, the distinction between separate primary lung carcinomas (SPLCs) and intrapulmonary metastases (IPMs) is important for staging, management, and prognostication.

Methods: We systemically reviewed various means that aid in the differentiation between SPLCs and IPMs explored by histopathologic evaluation and molecular profiling, the latter includes DNA microsatellite analysis, array comparative genomic hybridization, TP53 and oncogenic driver mutation testing and, more recently, with promising effectiveness, next-generation sequencing comprising small- or large-scale multi-gene panels.

Laboratory practices for the diagnosis and management of mucormycosis in France, 2024.

This study investigates the diagnostic practices for mucormycosis among 30 French University Hospital mycology laboratories, in 2024. All laboratories perform both direct examination and culture, with fluorescent brighteners being the most commonly used method for direct examination. While 77 % of the participating laboratories routinely identify Mucorales to the species level, with 70 % having adopted Mucorales-specific quantitative PCR, primarily for the diagnosis of invasive fungal infections.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.