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.

Development and validation of a model to identify polycystic ovary syndrome in the French national administrative health database.

Background: We aimed to develop and validate an algorithm for identifying women with polycystic ovary syndrome (PCOS) in the French national health data system.

Methods: Using data from the French national health data system, we applied the International Classification of Diseases (ICD-10) related diagnoses E28.2 for PCOS among women aged 18 to 43 years in 2021.

[Management of a fetus suspected of differences of sex development (DSD).].

The management of a fetus suspected of having a variation in genital development is a complex situation. In cases of complete discordance or an unusual appearance of the external genitalia (EG), management always begins with a diagnostic morphological ultrasound. This ultrasound aims to provide detailed imaging of the EG and internal genitalia (IG), focusing on identifying the presence of Müllerian derivatives and detecting any associated malformations.

Epcoritamab plus GemOx in transplant-ineligible relapsed/refractory DLBCL: results from the EPCORE NHL-2 trial.

Patients with relapsed or refractory (R/R) diffuse large B-cell lymphoma (DLBCL) have poor outcomes. Gemcitabine + oxaliplatin (GemOx) with rituximab, a standard salvage therapy, yields complete response (CR) rates of approximately 30% and median overall survival (OS) of 10-13 months. Patients with refractory disease fare worse, with a CR rate of 7% for subsequent therapies and median OS of 6 months.

Diagnostic performance of prehospital EFAST in predicting CT scan injuries in severe trauma patients: a multicenter cohort study.

Background: The early mortality of trauma patients, mainly from hemorrhagic shock, raises interest in detecting the presence of non-exteriorized bleeding. Intra-hospital EFAST (Extended Focused Assessment with Sonography for Trauma) has demonstrated its utility in the assessment and management of severe trauma patients (STP). However, there is a lack of data regarding the diagnostic performance of prehospital EFAST (pEFAST).

Mechanism of syncope: role of ambulatory blood pressure monitoring and cardiovascular autonomic function assessment.

Background And Aims: Identifying the haemodynamic mechanism of autonomic syncope is the essential pre-requisite for effective and personalized therapy aimed at preventing recurrences. The present study assessed the diagnostic efficacy of a two-step assessment.

Methods: Multicentre prospective, cross-sectional, observational study.

The influence of time and implants in high-dose rate image-guided adaptive brachytherapy for locally advanced cervical cancer.

Purpose: To compare the clinical outcomes of two different schedules of modern image-guided adaptive brachytherapy (IGABT) in patients underwent chemoradiotherapy (CCRT) and high-dose rate (HDR) brachytherapy (BT) for locally advanced cervical cancer treated (LACC) METHODS AND MATERIALS: Data from medical records of all consecutive patients with histologically proven cervical cancer (FIGO 2018 stage IB-IVA) treated by HDR-BT after CCRT at our institution between 2016 and 2021 were reviewed.

Results: Two hundred and 8 patients with LACC FIGO 2018 stages (IB 20.7%; II 26.

Durvalumab and tremelimumab in combination with metronomic oral vinorelbine for recurrent advanced cervical cancer: an open-label phase I/II study.

Background: The MOVIE phase I/II trial (NCT03518606) evaluated the safety and antitumor activity of durvalumab and tremelimumab combined with metronomic oral vinorelbine in patients with advanced tumors. We present the results of the recurrent advanced cervical cancer cohort.

Methods: Patients received tremelimumab (intravenously, 75 mg, every four weeks (Q4W); four cycles max) plus durvalumab (intravenously, 1,500 mg, Q4W; 26 cycles max) and metronomic oral vinorelbine (40 mg, every three weeks (3QW)) until disease progression.

Metabolic adaptation of myeloid cells in the glioblastoma microenvironment.

In recent decades, immunometabolism in cancers has emerged as an interesting target for treatment development. Indeed, the tumor microenvironment (TME) unique characteristics such as hypoxia and limitation of nutrients availability lead to a switch in metabolic pathways in both tumor and TME cells in order to support their adaptation and grow. Glioblastoma (GBM), the most frequent and aggressive primary brain tumor in adults, has been extensively studied in multiple aspects regarding its immune population, but research focused on immunometabolism remains limited.

Evaluation of rheumatoid arthritis-associated interstitial lung disease in patients treated with JAK inhibitors: a MAJIK-SFR cohort study.

Objective: To examine the course of interstitial lung disease associated with rheumatoid arthritis (RA-ILD) in France on treatment with Janus kinase inhibitors (JAKis) using the MAJIK-SFR registry.

Methods: Prospective national multicentre observational study identifying patients with RA-ILD from the MAJIK-SFR registry. Pulmonary assessment data were collected at JAKi initiation and follow-up visits (6 months, 12 months and a median of 21 months postinclusion), including chest high-resolution CT (HRCT), pulmonary function tests (forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO)), acute exacerbations of ILD, respiratory infections and lung cancers.

Achievements, priorities and strategies in pediatric nephrology in Europe: need for unifying approaches or acceptance of differences?

Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe.

Methods: In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children.

Effects of linear versus curvilinear sprint training on multidirectional speed in young soccer players: a randomized parallel-group trial.

The purpose of this study was to examine the effects of linear sprint training (LST) compared to curvilinear sprint training (CST) using an equivalent session training volume, on linear (LS) and curvilinear (CS) sprint performance, horizontal force-velocity profile, and change of direction (COD) ability in young soccer players. In a randomized pre-post parallel-group trial design, nineteen U16 male soccer players were randomly assigned to LST (n = 9) and CST (n = 10) groups. Both groups performed 11 sprint training sessions over 6 weeks.

Same-day discharge strategy in a heart rhythm management clinic: The patient-reported experience.

Background: Same-day discharge (SDD) has been adopted for interventional cardiology procedures, however, data on patient experience are scarce.

Aims: To investigate patient-reported experience after various SDD electrophysiology procedures.

Methods: Consecutive patients undergoing electrophysiology procedures, who fulfilled pre-defined eligibility criteria for SDD, completed the questionnaire before discharge.

Antipsychotic use during pregnancy and outcomes in pregnant individuals and newborns.

Background: Despite the increasing use of antipsychotics during pregnancy, comprehensive evaluations of their individual safety profiles using global data remain limited. This study aimed to assess the safety of various antipsychotics during pregnancy by comparing them to quetiapine, which has a relatively large body of safety data.

Method: Utilizing the World Health Organization pharmacovigilance database (1967-2023; n = 131,255,418 reports), we identified 11,406 reports of antipsychotic exposure during pregnancy.

Body mass index affects imatinib exposure: Real-world evidence from TDM with adaptive dosing.

Background: Imatinib is the treatment of elderly or frail patients with chronic myeloid leukemia (CML). Trough levels of around 1000 ng/ml are considered as the target exposure.

Objectives: We searched for baseline parameters associated with imatinib pharmacokinetics, and studied the clinical impact of subsequent adaptive dosing.

Reliability of an electronic uterine diagram to standardize intrauterine adhesion scoring.

Study Objective: To study the inter-rater reliability of an electronic complementary uterine diagram (eAFS) in comparison to the conventional American Fertility Society intrauterine adhesions (IUA) scoring system (cAFS). As a secondary aim we wanted to assess the intra-rater reliability of these tools.

Design: This was an observational cross over study with a nested test re-test design.

FB5P-seq-mAbs: monoclonal antibody production from FB5P-seq libraries for integrative single-cell analysis of B cells.

Parallel analysis of phenotype, transcriptome and antigen receptor sequence in single B cells is a useful method for tracking B cell activation and maturation during immune responses. However, in most cases, the specificity and affinity of the B cell antigen receptor cannot be inferred from its sequence. Antibody cloning and expression from single B cells is then required for functional assays.

EZH2 deletion does not impact acinar regeneration but restricts progression to pancreatic cancer in mice.

Enhancer of Zeste Homologue 2 (EZH2) is part of the Polycomb Repressor Complex 2, which promotes trimethylation of lysine 27 on histone 3 (H3K27me3) and genes repression. EZH2 is overexpressed in many cancers and studies in mice attributed both pro-oncogenic and tumor suppressive functions to EZH2 in pancreatic ductal adenocarcinoma (PDAC). EZH2 deletion enhances de novo KRAS-driven neoplasia following pancreatic injury, while increased EZH2 expression in PDAC patients is correlated to poor prognosis, suggesting a context-dependant effect for EZH2 in PDAC progression.

Parallel single-cell metabolic analysis and extracellular vesicle profiling reveal vulnerabilities with prognostic significance in acute myeloid leukemia.

Acute myeloid leukemia (AML) is an aggressive disease with a high relapse rate. In this study, we map the metabolic profile of CD34(CD38) AML cells and the extracellular vesicle signatures in circulation from AML patients at diagnosis. CD34 AML cells display high antioxidant glutathione levels and enhanced mitochondrial functionality, both associated with poor clinical outcomes.