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.

Position statement and guidelines about Endoscopic Sleeve Gastroplasty (ESG) also known as "Endo-sleeve".

IS ESG EFFECTIVE IN THE TREATMENT OF OBESITY AND ASSOCIATEDCOMORBIDITIES?: Endoscopic Sleeve Gastroplasty (ESG) is more effective than lifestyle modifications alone for weight loss and improving obesity-related comorbidities. While it has less effect on weight loss compared to Laparoscopic Sleeve Gastrectomy (LSG) in the short to medium term, it offers similar comorbidities resolution to LSG. IS ESG A SAFE PROCEDURE, AND WHAT ARE ITS RISKS?: The safety profile of ESG is consistently supported in the literature.

Epidemiology and Prognostic Factors Associated With Mold-Positive Blood Cultures: 10-Year Data From a French Prospective Surveillance Program (2012-2022).

Background: While invasive fusariosis and lomentosporiosis are known to be associated with fungemia, overall data on mold-related fungemia are limited, hampering early management. This study aimed to describe the epidemiology of mold-positive blood cultures.

Methods: Epidemiological and clinical data on mold-positive blood cultures from 2012 to 2022 were obtained from the RESSIF database.

T cell malignancies after CAR T cell therapy in the DESCAR-T registry.

The risk of T cell malignancies after chimeric antigen receptor (CAR) T cell therapy is a concern, although the true incidence remains unclear. Here we analyzed the DESCAR-T registry database, encompassing all pediatric and adult patients with hematologic malignancies who received CAR T cell therapy in France since 1 July 2018. Of the 3,066 patients included (2,536 B cell lymphoma, 162 B cell acute lymphoblastic leukemia (ALL) and 368 multiple myeloma), 1,680 (54.

Prognosis Associated with Complete Pathological Response Following Neoadjuvant Treatment for PancreaTic AdenOcarciNOma in the FOFLIRINOX Era: the Multicenter TONO Study.

Background: The use of multiagent FOLFIRINOX chemotherapy for pancreatic adenocarcinoma in a neoadjuvant setting has been associated with an increased rate of complete pathological response (CPR) after surgery. This study investigated the long-term outcomes of patients with CPR in a multicenter setting to identify prognostic factors for overall survival (OS) and recurrence-free survival (RFS).

Methods: This retrospective cohort study examined biopsy-proven pancreatic adenocarcinomas with CPR after neoadjuvant chemotherapy or chemoradiotherapy and surgery, between January 2006 and December 2023 across 22 French and  2 Belgian centers.

Mental Health Care Utilization and Prescription Rates Among Children, Adolescents, and Young Adults in France.

Importance: Amid escalating mental health challenges among young individuals, intensified by the COVID-19 pandemic, analyzing postpandemic trends is critical.

Objective: To examine mental health care utilization and prescription rates for children, adolescents, and young adults before and after the COVID-19 pandemic.

Design, Setting, And Participants: This population-based time trend study used an interrupted time series analysis to examine mental health care and prescription patterns among the French population 25 years and younger.

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.

Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.

High-energy nuclear collisions create a quark-gluon plasma, whose initial condition and subsequent expansion vary from event to event, impacting the distribution of the eventwise average transverse momentum [P([p_{T}])]. Disentangling the contributions from fluctuations in the nuclear overlap size (geometrical component) and other sources at a fixed size (intrinsic component) remains a challenge. This problem is addressed by measuring the mean, variance, and skewness of P([p_{T}]) in ^{208}Pb+^{208}Pb and ^{129}Xe+^{129}Xe collisions at sqrt[s_{NN}]=5.

Targeted microwave ablation of localised prostate cancer: Initial results of VIOLETTE trial.

Objective: The aim of this study was to assess the precision and safety of targeted microwave ablation (TMA) using organ-based tracking (OBT) fusion, in patients with intermediate risk prostate cancer.

Patients And Method: We conducted a prospective, multicentric trial. Eligible patients had a prostate-specific antigen (PSA) < 20 ng/mL, a magnetic resonance imaging (MRI)-visible index tumour of Gleason score 3 + 4, with largest axis ≤15 mm and distant of at least 5 mm from the rectum and apex.

A systematic review and meta-analysis of radiation exposure in spinal surgeries: Comparing C-Arm, CT navigation, and O-Arm techniques.

Introduction: Advanced imaging techniques, such as C-arm fluoroscopy, O-arm, and CT navigation, are integral to achieving precision in orthopedic surgeries. However, these technologies also expose patients, surgeons, and operating room staff to varying levels of radiation. This systematic review and meta-analysis evaluate the radiation exposure (RE) associated with these imaging modalities and their impact on surgical outcomes.

Transjugular Intrahepatic Portosystemic Shunt (TIPS): A Bridge to Bariatric Surgery in Morbidly Obese Patients with Cirrhosis and Clinically Significant Portal Hypertension.

Background: In cirrhotic patients, portal hypertension increases mortality after surgery. We evaluated the impact of pre-operative transjugular intrahepatic portosystemic shunt (TIPS) on the outcomes of bariatric surgery in cirrhosis.

Methods: Multicentric retrospective cohort.

Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.

Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.

Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.

The importance of microbiology reference laboratories and adequate funding for infectious disease surveillance.

Microbiology reference laboratories perform a crucial role within public health systems. This role was especially evident during the COVID-19 pandemic. In this Viewpoint, we emphasise the importance of microbiology reference laboratories and highlight the types of digital data and expertise they provide, which benefit national and international public health.

[Vaccination of children and adolescents treated for acute leukemia, excluding HSCT recipients: Recommendations of the French Society for Childhood and Adolescent Cancer and Leukemia (SFCE)].

Children and adolescents who are being treated or have been treated for acute leukemia have a secondary immunodeficiency linked to chemotherapy, resulting in an increased risk of infections. Some of which can be prevented by vaccination but its effectiveness is not optimal during chemotherapy. Upon cessation of chemotherapy, the time required for immune reconstitution varies from three months to more than a year, depending on lymphocyte subpopulations, the patient's age, and the intensity of the treatment received.

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.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.

Refining management strategies for Lennox-Gastaut syndrome: Updated algorithms and practical approaches.

Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple types of drug-resistant seizures (which must include tonic seizures) with classical onset before 8 years (although some cases with later onset have also been described), abnormal electroencephalographic features, and cognitive and behavioral impairments. Management and treatment of LGS are challenging, due to associated comorbidities and the treatment resistance of seizures. A panel of five epileptologists reconvened to provide updated guidance and treatment algorithms for LGS, incorporating recent advancements in antiseizure medications (ASMs) and understanding of DEEs.

Indications and Outcomes of Fetal Cystoscopy for Lower Urinary Tract Obstruction: A Comprehensive Review.

Fetal lower urinary tract obstruction (LUTO) encompasses a spectrum of rare congenital anomalies affecting the fetal urinary system, leading to significant morbidity and mortality. This condition, arising from various anatomical anomalies such as posterior urethral valves (PUV), urethral atresia, and cloacal malformations, disrupts normal urine flow, resulting in secondary complications such as pulmonary hypoplasia and renal impairment. Current management strategies, including fetal vesicoamniotic shunting (VAS) and fetal cystoscopy, aim to alleviate obstruction and mitigate associated risks.

Incidence and risk factors of graft failure in allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis in a nationwide pediatric cohort. A study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy.

Context: Mucopolysaccharidosis (MPS) requires urgent treatment to prevent neurological damage. While gene therapy holds promise for effectively treating these diseases with minimal toxicity, access remains limited for most patients. Consequently, advancing allogeneic hematopoietic stem cell transplantation (HSCT) for young children is crucial.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.