Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Objective: Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. Fetal alloimmune thrombocytopenia and pathogenic variations in COL4A1/A2 genes are well-recognized causes of FICH. However, pathogenic COL4A1/A2 variations are identified in only 20% of fetuses referred for FICH after excluding other known causes, leaving the majority unexplained and making genetic counseling difficult.

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).

Iberdomide, ixazomib and dexamethasone in elderly patients with multiple myeloma at first relapse.

Most transplant-ineligible patients present with multiple myeloma (MM) refractory to lenalidomide and/or anti-CD38 monoclonal antibody at first relapse and represent a difficult-to-treat population. The Intergroupe Francophone du Myélome phase 2 study iberdomide, ixazomib and dexamethasone (I2D) evaluated the oral triplet iberdomide, ixazomib and dexamethasone in MM patients aged ≥70 years at first relapse (NCT04998786). Seventy patients were enrolled to receive iberdomide (1.

[Use of hydroxychloroquine in recurrent immune-mediated obstetric diseases (excluding systemic lupus): Scientific basis and evidence].

Hydroxychloroquine (HCQ), a synthetic antimalarial, is recognized for its immunomodulatory, anti-inflammatory and vascular-protective effects. In 20-30% of cases of primary obstetrical antiphospholipid syndrome (APS), the combination of antiplatelet aggregation and prophylactic anticoagulation fails to prevent obstetrical complications, a situation referred to as refractory obstetrical APS. This is partly due to the pro-inflammatory effects of antiphospholipid antibodies (aPL) binding to decidual and trophoblastic cells, which compromise embryonic implantation and placentation.

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.

Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.

Study Design: Case series.

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

Allogeneic umbilical cord-derived mesenchymal stromal cells as treatment for systemic lupus erythematosus: a single-centre, open-label, dose-escalation, phase 1 study.

Background: Patients with systemic lupus erythematosus (SLE) with inadequate responses to standard therapies have unmet therapeutic needs. The immunomodulatory, proangiogenic, and antifibrotic properties of mesenchymal stromal cells support their use in treating patients with SLE. We aimed to assess the safety of a single intravenous infusion of allogeneic umbilical cord-derived mesenchymal stromal cells in patients with severe SLE.

Peripheral Nerve Stimulation Implantation Combining Ultrasound With Microendoscopy for Management of Chronic Neuropathic Pain: A Case Series Study.

Background: Peripheral nerve stimulation (PNS) has emerged as a minimally invasive percutaneous procedure addressing neuropathic pain. However, the percutaneous cylindrical lead ultrasound-guided implantation procedure requires expertise that limits widespread PNS utilization. To overcome these challenges, a microinvasive endoscopy device has very recently been developed, enhancing the precision of PNS implantation by providing accurate visualization of the targeted nerve.

["Projet doré": Screening for ocular pathologies in nursing home residents].

For several years, our society has been experiencing an aging of the population. Concurrently, there has been an observable increase in the population of nursing homes (EHPAD). The context of a global epidemic and the public health measures implemented to address it have underscored the vulnerability of our elderly population and the need for remote consultations to ensure continuity of care.

Associated Medial Meniscal Injury with ACL Reconstruction Results in Poorer Strength and Jump Tests Outcomes: A 6-Month Analysis of 504 Patients from the MERIScience Cohort.

: After anterior cruciate ligament reconstruction (ACLR), a 6-month composite test is recommended during rehabilitation before the return to sport, and the influence of a meniscal tear is not known. The hypothesis was that the location and treatment of meniscus injuries could influence the results of the composite test. : A retrospective single-center study was carried out of prospectively collected data involving 504 patients who performed a composite test 6 months after ACLR.

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).

Induction triplet chemotherapy in patients with rectal adenocarcinoma and synchronous metastases, an AGEO-FFCD study.

Aim Of The Study: The management of synchronous metastatic rectal cancer (SMRC) is complex and multimodal, involving chemotherapy, surgery and/or radiotherapy. The aim of this study was firstly to confirm the efficacy of the induction FOLFIRINOX, and secondly to evaluate the different therapeutic strategies and outcomes of patients.

Patients And Methods: This French study combined data from a prospective FFCD trial and a multicenter cohort.

Efficacy and Tolerability of Tebentafusp in Metastatic Uveal Melanoma: A Real-life Retrospective Multicentre Study.

Metastatic uveal melanoma is a rare disease with a poor prognosis. Usual treatments have not proven effective. Tebentafusp, a bispecific protein targeting melanoma cells and T lymphocytes, is the first approved treatment with a proven survival benefit in a randomized clinical.

Shaping tomorrow: how the STEP training course pioneered noninvasive brain stimulation training for psychiatry in France.

Over the past three decades, non-invasive brain stimulation (NIBS) techniques have gained worldwide attention and demonstrated therapeutic potential in various medical fields, particularly psychiatry. The emergence of these novel techniques has led to an increased need for robust training programs to provide practitioners, whether clinicians or scientists, with the necessary skills and knowledge. In response, a comprehensive training curriculum for NIBS in psychiatry has been developed in France.

Endoscopic papillectomy versus surgical ampullectomy for adenomas and early cancers of the papilla: a retrospective Pancreas2000/European Pancreatic Club analysis.

Objective: Ampullary neoplastic lesions can be resected by endoscopic papillectomy (EP) or transduodenal surgical ampullectomy (TSA) while pancreaticoduodenectomy is reserved for more advanced lesions. We present the largest retrospective comparative study analysing EP and TSA.

Design: Of all patients in the database, lesions with prior interventions, benign histology advanced malignancy (T2 and more), patients with hereditary syndromes and those undergoing pancreatoduodenectomy were excluded.

Measurement of Cumulative Drug Exposure from Clinical Data Warehouse.

Polypharmacy (PP) and hyperpolypharmacy (HPP), are prevalent among cancer patients and are associated with an increased risk of drug-drug interactions (DDI) and potentially inappropriate medications (PIM). This study aimed to characterize PP, HPP, DDI, and PIM in patients with hematological malignancies hospitalized for hematopoietic stem cell transplantation (HSCT) by introducing a novel metric: cumulative drug exposure. Clinical data warehouse (CDW) records were employed to develop algorithms that quantified patients' cumulative exposure to these prescribing determinants during hospitalization.

Relationships between cognition, functioning, and quality of life of euthymic patients with bipolar disorder: Structural equation modeling with the FACE-BD cohort.

Background: Quality of life is decreased in bipolar disorders (BD) and contributes to poor prognosis. However, little is known about the causal pathways that may affect it. This study aimed to explore health-related QoL (HRQoL) in BD and investigate its relationship with cognition and psychosocial functioning.

[Psychological impact of the COVID-19 pandemic on chronic haemodialysis patients in eastern Morocco: a cross-sectional study].

Introduction: chronic haemodialysis patients are a vulnerable population significantly affected by the COVID-19 pandemic, which has had a severe impact on people with co-morbidities and immune system depression, which increases the risk of infection and of developing severe form of COVID-19. The purpose of this study is to assess the impact of the COVID-19 pandemic on the mental health and quality of life of chronic haemodialysis patients.

Methods: we conducted a descriptive cross-sectional survey among 175 chronic hemodialysis patients using the Mini International Neuropsychiatric Interview Moroccan Arab Version 5.

Rearranged During Transfection Rearrangement Detection by Fluorescence In Situ Hybridization Compared With Other Techniques in NSCLC.

Introduction: rearrangements occur in 1% to 2% NSCLCs. Since no clinically validated RET antibody is currently available, fluorescence in situ hybridization (FISH) is often used as a screening tool to identify patients likely to benefit from RET-targeted therapy. In this study, we performed a comprehensive review of publications in which -rearrangement testing was performed by FISH and compared the methods and results with our data.