Midterm Outcomes of Endovascular Pulmonary Artery Debanding in Children.

Background: Pulmonary artery banding (PAB) palliates pulmonary over-circulation, while endovascular debanding (ED) offers a less invasive alternative to repeat surgery.

Objectives: To evaluate our experience with ED.

Aims: Retrospective review of single-center data (2015-2023) on children with single, multiple, or "Swiss-cheese" muscular ventricular septal defects (MVSDs) undergoing ED.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.

Dent disease: Clinical Practice Recommendations.

Dent disease is a rare X-linked tubulopathy that is characterized by low-molecular-weight (LMW) proteinuria associated with hypercalciuria, which may lead to nephrolithiasis, nephrocalcinosis, and kidney failure between the 3rd and the 5th decades of life in 30-80% of affected males. The disease is most often associated with various manifestations of proximal tubular dysfunction. Affected individuals may present nephrotic range proteinuria which may be misinterpreted and cause diagnostic delay.

The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.

Background/aims: X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5-15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of this disease on patients are poorly investigated, especially with respect to burdens faced by patients with varying disease severities.

Methods: EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study.

Assessing Educational Impact of Worldwide Webinar on Management of Myopia Progression in Children.

Objective: To assess the educational impact of a worldwide webinar approach to myopia progression management in children <8 years and 8-12 years old.

Design: Cross-sectional study.

Methods: A self-administered survey was conducted for attendees of a 3 h worldwide webinar held in two parts on consecutive days on the management of myopia progression in children.

Lateral decubitus: its influence on hemodynamic and respiratory function during retroperitoneal robotic assisted laparoscopic pyeloplasty (R-RALP) in children.

Retroperitoneal robotic-assisted laparoscopic pyeloplasty (R-RALP) is the commonest urologic procedure performed in children, entailing retroperitoneal CO2 insufflation and lateral decubitus, whose effects on cardiopulmonary variables are poorly known. We, therefore, studied hemodynamic and respiratory changes due to CO2 insufflation and lateral decubitus in children undergoing R-RALP and their effects on regional tissue oxygenation. Between 1/2021 and 7/2024, children affected by ureteropelvic joint obstruction (UPJO) underwent a pyeloplasty by R-RALP at Necker Enfants Malades Hospital (Paris, France), using a standardized surgical technique and a lung-protecting anesthetic protocol aimed to prevent hypercarbia.

The alphavirus determinants of intercellular long extension formation.

The alphavirus chikungunya virus (CHIKV) is a serious human pathogen that can cause large-scale epidemics characterized by fever and joint pain and often resulting in chronic arthritis. Infection by alphaviruses including CHIKV and the closely related Semliki Forest virus (SFV) can induce the formation of filopodia-like intercellular long extensions (ILEs). ILEs emanate from an infected cell, stably attach to a neighboring cell, and mediate cell-to-cell viral transmission that is resistant to neutralizing antibodies.

Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.

Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective of these guidelines was to develop clinical practice recommendations focusing on specific aspects of the kidney management of this disease.

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.

Purpose: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. Effective transition is crucial to improve health outcomes and treatment compliance among patients. Evaluations of existing transition programmes in European health centres identified the absence of disease-specific transition guidelines for PID and AID, as a challenge to the transition process.

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).

Vaccine policies in France and Europe.

This review outlines the outcome of the COVID-19 vaccination campaign in France and assesses the respective roles of information and coercion in its overall success. These data are then put into perspective of the evolution of vaccination acceptance in France.

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.

Fungal biomarkers in HIV-associated disseminated histoplasmosis: a multicenter diagnostic accuracy study on the Guiana shield.

Objectives: Diagnosis of HIV-associated histoplasmosis remains challenging. Our objective was to compare the performances of (1→3)-β-D-Glucan (BDG) and aspergillus galactomannan (GM) antigen for the diagnosis of HIV-associated histoplasmosis.

Methods: We performed a diagnostic accuracy study using frozen primary serum specimens issued from consecutive hospitalized people living with HIV (PLWH) and blindly tested for BDG and GM using Fungitell and PlateliaAspergillus, respectively.

Higher risk profile among patients with TET2-mutated giant cell arteritis: a cluster analysis.

Objective: We aimed to assess the prevalence of clonal haematopoiesis (CH) in patients with giant cell arteritis (GCA) compared with controls and individuals with other autoimmune diseases (AIDs) and to identify high-risk clinical/genetic profiles that could influence disease outcomes.

Methods: In a prospective observational study at three hospitals, we included 49 patients diagnosed with GCA, 48 patients with other AIDs and 27 control participants. We used next-generation sequencing to detect clonal haematopoiesis (CH) among them.

Differential stress responsiveness determines intraspecies virulence heterogeneity and host adaptation in Listeria monocytogenes.

Microbial pathogenesis is mediated by the expression of virulence genes. However, as microbes with identical virulence gene content can differ in their pathogenic potential, other virulence determinants must be involved. Here, by combining comparative genomics and transcriptomics of a large collection of isolates of the model pathogen Listeria monocytogenes, time-lapse microscopy, in vitro evolution and in vivo experiments, we show that the individual stress responsiveness of L.

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.

12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with -mediated inherited retinal dystrophy.

Aims: To report main outcomes and complications following voretigene neparvovec (Luxturna) treatment in paediatric patients.

Methods: Records of patients under the age of 17 treated by subretinal administration of voretigene neparvovec for confirmed biallelic -mediated inherited retinal dystrophy were retrospectively reviewed. Best-corrected visual acuity (BCVA) and data from spectral-domain optical coherence tomography, ultra-wide-field fundus imaging and Goldmann visual field (VF) were analysed at 12 months follow-up.

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

Analysis of pediatric ophthalmology surgical activity in metropolitan France in 2016: Its impact on training capacities.

Aims: To describe pediatric ophthalmology surgery activity in private or public practice in metropolitan France in 2016 and to anticipate training needs in surgical pediatric ophthalmology.

Methods: We used the French National Health Care System database to identify all pediatric ophthalmology surgical procedures performed in 2016. The study included all children aged ≤14 years who had undergone ophthalmologic surgery.

Association of optic disc drusen and small scleral canals - A systematic review and meta-analysis.

The pathophysiology of optic disc drusen (ODD) has long been discussed. According to one leading theory, they develop from calcified mitochondria extruded from axons compressed by an unusually small scleral canal. To examine this hypothesis, we conducted a systematic review and meta-analysis evaluating the scleral canal size in patients with ODD (PO) in comparison to healthy subjects (HS).