Long-term outcome of children with newly diagnosed pulmonary arterial hypertension: results from the global TOPP registry.

Background And Aims: The Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension (TOPP) registry is a global network established to gain insights into the disease course and long-term outcomes of paediatric pulmonary arterial hypertension (PAH). Previously published cohorts in paediatric PAH are obscured by survival bias due to the inclusion of both prevalent (previously diagnosed) and incident (newly diagnosed) patients. The current study aims to describe long-term outcome and its predictors in paediatric PAH, exclusively of newly diagnosed patients.

Early GH Treatment Is Effective and Well Tolerated in Children With Turner Syndrome: NordiNet® IOS and Answer Program.

Context: Despite having normal growth hormone (GH) secretion, individuals with Turner syndrome (TS) have short stature. Treatment with recombinant human GH is recommended for TS girls with short stature.

Objective: This work aimed to evaluate the effectiveness and safety of Norditropin (somatropin, Novo Nordisk) with up to 10 years of follow-up in children with TS.

Factors Associated With Response to Growth Hormone in Pediatric Growth Disorders: Results of a 5-year Registry Analysis.

Context: Growth hormone (GH) therapy can increase linear growth in patients with growth hormone deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS), and Prader-Willi syndrome (PWS), although outcomes vary by disease state.

Objective: To assess growth and identify factors associated with growth response with long-term GH therapy.

Methods: Data from pediatric patients with GHD, TS, NS, and PWS obtained at GH treatment initiation (baseline) and annually for 5 years in the ANSWER Program and NordiNet® IOS were analyzed retrospectively.

4D flow magnetic resonance imaging to assess right ventricular outflow tract in patients undergoing transcatheter pulmonary valve replacement.

Introduction And Objectives: Magnetic resonance imaging (MRI) including 4D flow is used before percutaneous pulmonary valve implantation (PPVI). As PPVI is limited by the size of the right ventricular outflow tract (RVOT), accurate sizing is needed to plan the intervention. The aim of this study was to compare different MRI modalities and invasive angiography to balloon sizing of RVOT.

Early spontaneous closure of large arterial ducts in two term neonates with Ebstein anomaly after failed attempts of transcatheter closure.

In neonatal Ebstein's anomaly of the tricuspid valve, prolonged ductal patency in patients without anatomic pulmonary valve atresia can be deleterious. Circular shunts may develop in patients with different degrees of pulmonary and tricuspid insufficiency. Closure of the arterial duct may result in haemodynamic improvement in particular scenarios.

Functional and targeted proteomics characterization of a human primary endothelial cell model of the blood-brain barrier (BBB) for drug permeability studies.

The blood-brain barrier (BBB) protects the brain from toxins but hinders the penetration of neurotherapeutic drugs. Therefore, the blood-to-brain permeability of chemotherapeutics must be carefully evaluated. Here, we aimed to establish a workflow to generate primary cultures of human brain microvascular endothelial cells (BMVECs) to study drug brain permeability and bioavailability.

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.

Here, we report on a heterozygous interferon regulatory factor 4 (IRF4) missense variant identified in three patients from a multigeneration family with hypogammaglobulinemia. Patients' low blood plasmablast/plasma cell and naïve CD4 and CD8 T cell counts contrasted with high terminal effector CD4 and CD8 T cell counts. Expression of the mutant IRF4 protein in control lymphoblastoid B cell lines reduced the expression of BLIMP-1 and XBP1 (key transcription factors in plasma cell differentiation).

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.

Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR modulators, the first variant-specific therapy available, have transformed the management of CF. The latest standards of care from the European CF Society (2018) did not include guidance on variant-specific therapy, as CFTR modulators were becoming established as a novel therapy.

Multimodal MRI radiomic models to predict genomic mutations in diffuse intrinsic pontine glioma with missing imaging modalities.

Purpose: Predicting H3.1, TP53, and ACVR1 mutations in DIPG could aid in the selection of therapeutic options. The contribution of clinical data and multi-modal MRI were studied for these three predictive tasks.

Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management.

Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious and rare diseases, most often drug-induced, and their incidence has been estimated at 6 cases/million/year in France. SJS and TEN belong to the same spectrum of disease known as epidermal necrolysis (EN). They are characterized by more or less extensive epidermal detachment, associated with mucous membrane involvement, and may be complicated during the acute phase by fatal multiorgan failure.

Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant.

Early treatment of neonatal diabetes with sulfonylureas has been proven to produce marked improvements of neurodevelopment, beside the demonstrated efficacy on glycemic control. Several barriers still prevent an early treatment in preterm babies including the limited availability of suitable galenic form of glibenclamide. We adopted oral glibenclamide suspension (Amglidia) for the early treatment of neonatal diabetes due to an homozygous variant of KCNJ11 gene c.

Treatment burden, adherence, and quality of life in children with daily GH treatment in France.

Objective: The objective of this study was to describe in a real-life setting the treatment burden and adherence and quality of life (QOL) of children treated with daily injections of growth hormone and their relationship with treatment duration.

Design: This non-interventional, multicenter, cross-sectional French study involved children aged 3-17 years treated with daily growth hormone injections.

Methods: Based on a recent validated dyad questionnaire, the mean overall life interference total score (100 = most interference) was described, with treatment adherence and QOL, using the Quality of Life of Short Stature Youth questionnaire (100 = best).

Transvenous retrograde thoracic duct embolization for effective treatment of recurrent plastic bronchitis after fontan palliation.

We report the case of a 5.5-year-old patient (16 kg/105 cm) who presented with plastic bronchitis (PB) refractory to conservative treatment 3 months after completion of Fontan palliation. Bi-inguinal transnodal fluoroscopy-guided lymphangiogram confirmed the chylous leak originating from the thoracic duct (TD) into the chest and did not opacify any central lymphatic vessel for direct transabdominal puncture.

Concurrent and Predictive Validity of a Cycloid Loops Copy Task to Assess Handwriting Disorders in Children.

Handwriting disorders (HDs) are mainly assessed using script or cursive handwriting tasks. The most common is the scale for children's handwriting, with a French adaptation (BHK). The present study aims to assess the concurrent validity of a pre-scriptural task (copying a line of cycloid loops) with the BHK for the diagnosis of HDs.

Invasive bone and joint infections from the French Scedosporiosis/lomentosporiosis Observational Study (SOS) cohort: no mortality with long-term antifungal treatment and surgery.

Little is known about localized osteoarticular Scedosporiosis (LOS). Most data come from case reports and small case series. Here we present an ancillary study of the nationwide French Scedosporiosis Observational Study (SOS), describing 15 consecutive cases of LOS diagnosed between January 2005 and March 2017.

Assessment of Puberty and Hypothalamic-Pituitary-Gonadal Axis Function After Childhood Brain Tumor Treatment.

Context: Endocrine complications are common in pediatric brain tumor patients.

Objective: To describe hypothalamic-pituitary-gonadal axis (HPGA) function in patients treated in childhood for a primary brain tumor more than 5 years earlier, in order to identify risk factors for HPGA impairment.

Methods: We retrospectively included 204 patients diagnosed with a primary brain tumor before 18 years of age and monitored at the pediatric endocrinology unit of the Necker Enfants-Malades University Hospital (Paris, France) between January 2010 and December 2015.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.

Congenital hydrocephalus is a common condition caused by the accumulation of cerebrospinal fluid in the ventricular system. Four major genes are currently known to be causally involved in hydrocephalus, either isolated or as a common clinical feature: L1CAM, AP1S2, MPDZ and CCDC88C. Here, we report 3 cases from 2 families with congenital hydrocephalus due to bi-allelic variations in CRB2, a gene previously reported to cause nephrotic syndrome, variably associated with hydrocephalus.

Performance of Radiomics in Microvascular Invasion Risk Stratification and Prognostic Assessment in Hepatocellular Carcinoma: A Meta-Analysis.

Background: Primary liver cancer is the sixth most commonly diagnosed cancer and the third leading cause of cancer death. Advances in phenomenal imaging are paving the way for application in diagnosis and research. The poor prognosis of advanced HCC warrants a personalized approach.