Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening.

In France, sickle cell disease newborn screening (SCD NBS) has been targeted to at-risk regions since 1984, but generalization to the whole population will be implemented from November 2024. Although tandem mass spectrometry (MS/MS) is already used for the NBS of several inherited metabolic diseases, its application for SCD NBS has not been widely adopted worldwide. The aim of this study was to evaluate a dedicated MS/MS kit (Targeted MS/MS Hemo, ZenTech, LaCAR Company, Liege, Belgium) for SCD NBS and to compare the results obtained with those from an NBS reference center using matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) and cation-exchange high-performance liquid chromatography (CE-HPLC, Variant NBS, Biorad Laboratories, Inc.

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.

Real life data of ONC201 (dordaviprone) in pediatric and adult H3K27-altered recurrent diffuse midline glioma: Results of an international academia-driven compassionate use program.

Introduction: H3K27-altered diffuse midline gliomas (DMG) have limited therapeutic options and a very poor prognosis. Encouraging responses were observed in early clinical trials with ONC201. As ONC201 was unavailable in Europe, a compassionate use program supported by the French Authorities was launched for patients at progression after standard of care radiotherapy.

A novel microRNA promotes coxsackievirus B4 infection of pancreatic β cells.

The epidemiological association of coxsackievirus B infection with type 1 diabetes suggests that therapeutic strategies that reduce viral load could delay or prevent disease onset. Moreover, recent studies suggest that treatment with antiviral agents against coxsackievirus B may help preserve insulin levels in type 1 diabetic patients. In the current study, we performed small RNA-sequencing to show that infection of immortalized trophoblast cells with coxsackievirus caused differential regulation of several miRNAs.

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.

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

Effect of familiarity and knowledge about epilepsy on associated cultural stereotypes in French society.

People with epilepsy face stigma that impacts numerous aspects of their daily lives. Although the stigma surrounding people with epilepsy has been extensively documented, the mechanisms underlying it-such as cultural stereotypes-remain to be explored. Cultural stereotypes are widely shared beliefs within a cultural context about attributes typically associated with members of a particular group.

Epidemiological and clinicopathological characteristics of vascular-limited renal AL amyloidosis.

Background And Hypothesis: Kidney involvement, along with cardiac disease, is the most frequent manifestation of systemic AL amyloidosis usually resulting in nephrotic-range proteinuria. Rarely, deposits predominantly or exclusively affect the intrarenal arterioles or arteries, these vascular-limited forms following a distinct clinical course, but very little is known about these forms. Our work plan at better characterizing renal vascular limited AL amyloidosis.

Tricuspid Valve S-Curves and Chamber Views: Implications for Transcatheter Tricuspid and Pulmonary Valve Interventions, Part 2 of the S-Curves and Chamber Views Series.

Despite the challenges associated with periprocedural imaging, transcatheter tricuspid valve interventions have shown important impact on outcomes. A comprehensive understanding of the anatomy of the right heart and surrounding structures is crucial. One way to optimize these interventions is by identifying the optimal fluoroscopic viewing angles along the S-curve of the tricuspid valve.

Implementation and validation of a new qPCR assay to detect imported human species.

Diagnosis of imported malaria is based on microscopic examination of blood smears (BS), detection of circulating plasmodial antigen by immunochromatography (ICT), or detection of spp. DNA by loop mediated isothermal amplification. We have developed duplex ( spp.

Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by an excess of lipids, mainly triglycerides, in the liver and components of the metabolic syndrome, which can lead to cirrhosis and liver cancer. While there is solid epidemiological evidence that MASLD clusters with cardiometabolic disease, several leading genetic risk factors for MASLD do not increase the risk of cardiovascular disease, suggesting no causal relationship between MASLD and cardiometabolic derangement. In this work, we leveraged measurements of visceral adiposity identifying 27 previously unknown genetic loci associated with MASLD (n = 36,394), six replicated in four independent cohorts (n = 3,903).

Data-driven cluster analysis identifies distinct types of metabolic dysfunction-associated steatotic liver disease.

Metabolic dysfunction-associated steatotic liver disease (MASLD) exhibits considerable variability in clinical outcomes. Identifying specific phenotypic profiles within MASLD is essential for developing targeted therapeutic strategies. Here we investigated the heterogeneity of MASLD using partitioning around medoids clustering based on six simple clinical variables in a cohort of 1,389 individuals living with obesity.

Can we trust the accuracy of the automatic calibration of the EOS system to measure lower limb length inequality after total hip arthroplasty? Comparison of EOS versus manual measurement on 110 calibrated radiographs.

Introduction: Traditionally, to determine a length on a limb radiograph after total hip arthroplasty (THA), calibration is performed manually with the diameter of a ball or the femoral head. More recently, the development of EOS with automatic calibration has called into question the usefulness of manual calibration to highlight lower limb length inequality (LLLI). However, the validation of EOS with automatic calibration without landmarks to measure length inequalities on large images has not been verified against manual measurements on calibrated radiographs (conventional method), which motivated the present work.

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.

Impact of diabetes on epicardial reperfusion and mortality in a contemporary STEMI population undergoing mechanical reperfusion: Insights from the ISACS STEMI COVID 19 registry.

Background And Aim: Diabetes has been shown in last decades to be associated with a significantly higher mortality among patients with ST-segment elevation myocardial infarction (STEMI) treated with primary PCI (PPCI). Therefore, the aim of current study was to evaluate the impact of diabetes on times delays, reperfusion and mortality in a contemporary STEMI population undergoing PPCI, including treatment during the COVID pandemic.

Methods And Results: The ISACS-STEMI COVID-19 is a large-scale retrospective multicenter registry involving PPCI centers from Europe, Latin America, South-East Asia and North-Africa, including patients treated from 1st of March until June 30, 2019 and 2020.

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.

The prognostic value of the Dandel's index in patients undergoing tricuspid transcatheter edge-to-edge repair.

Aims: Conventional parameters of right ventricular (RV) function are load-dependent and therefore do not accurately reflect contractility in patients with relevant tricuspid regurgitation (TR). RV adaptability to load has been characterized using the Dandel's index in patients with heart failure, but its prognostic value in patients undergoing tricuspid transcatheter edge-to-edge repair (T-TEER) has not been investigated so far.

Methods And Results: From the EuroTR registry (2019 to 2022), patients with complete datasets and a minimum of 2-years of follow-up were included.

A widespread family of ribosomal peptide metallophores involved in bacterial adaptation to metal stress.

Ribosomally synthesized and posttranslationally modified peptides (RiPPs) are a structurally diverse group of natural products that bacteria employ in their survival strategies. Herein, we characterized the structure, the biosynthetic pathway, and the mode of action of a RiPP family called bufferins. With thousands of homologous biosynthetic gene clusters throughout the bacterial phylogenetic tree, bufferins form by far the largest family of RiPPs modified by multinuclear nonheme iron-dependent oxidases (MNIO, DUF692 family).

Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

Purpose: MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.

Efficacy of subsequent therapies in patients with advanced ovarian cancer who relapse after first-line olaparib maintenance: results of the PAOLA-1/ENGOT-ov25 trial.

Background: The use of first-line poly(ADP-ribose) polymerase (PARP) inhibitor maintenance therapy is increasing in advanced ovarian cancer. Understanding the efficacy of first subsequent therapy (FST) in patients experiencing disease progression in the first-line setting is important to optimize postprogression treatments. We evaluated the efficacy of FST in patients from PAOLA-1/ENGOT-ov25 (NCT02477644) who received first-line olaparib maintenance.

A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1.

Oculocutaneous albinism type 1 is caused by variants in the TYR (tyrosinase) gene. We describe a family with two affected sibs who inherited the pathogenic missense TYR variant c.1146C > A;p.