Outcome of COVID-19 in patients with rheumatic and inflammatory diseases treated with mycophenolic acid: data from the French RMD COVID-19 cohort.

Background: Patients with inflammatory rheumatic and musculoskeletal diseases (iRMD) receiving mycophenolic acid (MPA) may have a less favourable outcome from COVID-19 infection. Our aim was to investigate whether MPA treatment is associated with severe infection and/or death.

Methods: IRMD patients with and without MPA treatment with highly suspected/confirmed COVID-19 were included in this observational multicentre study.

Impact of previous REnal TRansplantation on the mid-term renal Outcome after CARdiac surgery: the RETROCAR trial.

Background: Acute kidney injury (AKI) is one of the most common complications after cardiac surgery with cardiopulmonary bypass (CPB). Renal transplant recipients (RTRs) have a higher risk of cardiac surgery-associated AKI (CSA-AKI). A relationship has been strongly suggested between AKI and poor long-term graft survival.

Surgical treatment of brain arteriovenous malformations: clinical outcomes of patients included in the registry of a pragmatic randomized trial.

Objective: The Treatment of Brain Arteriovenous Malformations Study (TOBAS) is a pragmatic study that includes 2 randomized trials and registries of treated or conservatively managed patients. The authors report the results of the surgical registry.

Methods: TOBAS patients are managed according to an algorithm that combines clinical judgment and randomized allocation.

Voice Quality Outcomes After Transoral CO Laser Cordectomy: A Longitudinal Prospective Study.

Objective: To evaluate the evolution of voice quality in patients after type I-VI transoral CO laser cordectomy (TLC) by using validated voice outcome measures over a 12-month period.

Study Design: Prospective uncontrolled study.

Setting: Monocenter study.

Multisystem T-cell Chronic Active Epstein-Barr Virus Infection: From the Eye to the Kidney.

Chronic active Epstein-Barr virus (CAEBV) infection is usually a fatal disease associated with clonal proliferation of EBV-infected T or NK cells. We present the case of a 33-year-old Peruvian patient who developed a multisystem CAEBV, notably responsible for exceptional ophthalmological and renal damage. We describe the clinicopathological features of EBV-induced lymphoproliferative disorder.

Myasthenia gravis and paroxysmal nocturnal hemoglobinuria after thymectomy: A rare association.

Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare clonal autoimmune disease manifesting with hemolysis, thrombosis, or bone marrow failure. We present an atypical association of myasthenia gravis, aplastic anemia, and PNH occurring years after thymectomy. While this association might be extremely rare, it may not be coincidental as there is a common pathophysiology between PNH and aplastic anemia, with the latter reported in several thymoma/thymectomy cases.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.

Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated with KCNQ2 missense variants R144W, R144Q, and R144G. We also explored in vitro blockade of channels carrying R144Q mutant subunits by amitriptyline.

Polypharmacy and medication regimen complexity in older patients with hemophilia or von willebrand disease: the M'HEMORRH-AGE study.

Background: In older patients, multiple chronic conditions lead topolypharmacy which is associated with a higher risk of adverse drug events. Nowadays, the medication exposure of older patients with bleeding disorders has been poorly explored.

Aim: The aim of this study was to assess the prevalence of polypharmacy and the medication regimen complexity in older community-dwelling patients with hemophilia or von Willebrand Disease (VWD).

Functional Outcome after Spinal Meningioma Surgery.

Study Design: A multicenter cross-sectional analytical retrospective study.

Purpose: To assess functional outcome (FO) after a spinal meningioma (SM) surgery.

Overview Of Literature: All studies report functional improvement after SM removal.

Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.

Background & Aims: Acute intermittent porphyria (AIP), caused by heterozygous germline mutations of the heme synthesis pathway enzyme HMBS (hydroxymethylbilane synthase), confers a high risk of hepatocellular carcinoma (HCC) development. Yet, the role of HMBS in liver tumorigenesis remains unclear.

Methods: Herein, we explore HMBS alterations in a large series of 758 HCC cases, including 4 patients with AIP.

Skin landmarks to main cerebral structures: how to identify the main cerebral sulci? A radiological study about lateral, central, and parietooccipital sulci.

Purpose: In a previous cadaveric work, we identified and described useful and reproducible surface skin landmarks to lateral sulcus, central sulcus and preoccipital notch. Potential limitations of this cadaveric study have been raised. Thus, the objective of this study was to confirm radiologically the accuracy of these previously described surface skin landmarks on brain magnetic resonance imaging (MRI) of healthy subjects.

Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.

Background And Purpose: Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness or predominantly painful symptoms, remains incompletely characterized.

Methods: A retrospective clinical, histological, electroneuromyography (ENMG) and genetic analysis of molecularly confirmed ATS patients, diagnosed and followed up at neuromuscular reference centers in France, was conducted.

MRI and rectal endoscopy sonography performance to diagnose the digestive depth infiltration of pelvic endometriosis.

Introduction: The main objective of this study was to evaluate the performances of MRI and rectal endoscopy sonography (RES) in predicting the depth of bowel wall infiltration by deep infiltrating endometriosis (DIE).

Material And Method: We conducted a single center retrospective study from April 2014 to March 2020 including all patients who had undergone digestive tract resection (discoid or segmental) for DIE removal and who had benefited from full preoperative imaging workup based on both pelvic MRI and RES.

Results: Fifty two patients were enrolled in the study.

Structure, Dynamics, and Impact of Replication Stress-Induced Structural Variants in Hepatocellular Carcinoma.

Unlabelled: Oncogene activation leads to replication stress and promotes genomic instability. Here we combine optical mapping and whole-genome sequencing (WGS) to explore in depth the nature of structural variants (SV) induced by replication stress in cyclin-activated hepatocellular carcinomas (CCN-HCC). In addition to classical tandem duplications, CCN-HCC displayed frequent intra-chromosomal and interchromosomal templated insertion cycles (TIC), likely resulting from template switching events.

Intramedullary Spinal Cord Lesions: A Single-Center Experience.

Objective: Spinal cord tumors constitute a small part of spinal surgery owing to their rarity. This retrospective study describes their current management.

Methods: Forty-eight patients were treated for an intramedullary tumor between 2014 and 2020 at a single institution.

Functional Outcome After Spinal Meningioma Surgery. A Nationwide Population-Based Study.

Objective: To describe and analysed the functional outcome (FO) after spinal meningioma (SM) surgery.

Methods: We processed the système national des données de santé (SNDS) i.e.