Longitudinally extensive posterolateral myelitis revealing invasive CNS aspergillosis in an immunocompetent patient.

Background: Fungal infections of the central nervous system usually affect immunocompromised patients. Primary myelitis has never been described.

Report: A 45-year-old immunocompetent male with subacute paraplegia was treated for inflammatory myelitis before clinical deterioration requiring mechanical ventilation.

Safety and effectiveness of abatacept in juvenile idiopathic arthritis: results from the PRINTO/PRCSG registry.

Objective: The aim of this study was to report the interim 5-year safety and effectiveness of abatacept in patients with JIA in the PRINTO/PRCSG registry.

Methods: The Abatacept JIA Registry (NCT01357668) is an ongoing observational study of children with JIA receiving abatacept; enrolment started in January 2013. Clinical sites enrolled patients with JIA starting or currently receiving abatacept.

Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.

Background: This study aims to characterize optic disc hypoplasia in congenital aniridia using ultra-wide-field imaging (UWFI) and nonmydriatic retinal photography (NMRP). We also investigated the relation between optic disc hypoplasia and foveal hypoplasia.

Methods: This is a retrospective case series of patients diagnosed with PAX6 -related aniridia in a National Referral Center, who underwent UWFI, NMRP, and spectral-domain optical coherence tomography (SD-OCT) .

Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study.

Objectives: Inherited amino-acid metabolism disorders (IAAMDs) require lifelong protein-restricted diet. We aimed to investigate: 1/ whether IAAMDs was associated with growth, pubertal, bone mineral apparent density (BMAD) or body composition impairments; 2/ associations linking height, amino-acid mixture (AAM), plasma amino-acids and IGF1 concentrations.

Design: Retrospective longitudinal study of 213 patients with neonatal-onset urea cycle disorders (UCD,n = 77), organic aciduria (OA,n = 89), maple syrup urine disease (MSUD,n = 34), or tyrosinaemia type 1 (n = 13).

Part 5: Allogeneic HSCT in refractory SJIA with lung disease; recent cases from centers in North America & Europe.

It has been increasingly recognized that there is a subset of patients with refractory systemic JIA, who have failed all available medications and may benefit from HSCT. The increasing experience with HSCT in SJIA, suggests that despite the complicated post-HSCT course, short-term, the transplanted patients either achieved SJIA remission or reduced burden of disease. Longer follow-up, however, is needed to better define the long-term outcomes.

The Impact of Teduglutide on Real-Life Health Care Costs in Children with Short Bowel Syndrome.

Objectives: To analyze the real-life health care costs of home parenteral nutrition (HPN) in children with short bowel syndrome with intestinal failure (SBS-IF) before and after treatment with teduglutide, and to compare those with costs of children with SBS-IF not treated with teduglutide.

Study Design: All consecutive children with SBS-IF on HPN treated with subcutaneous teduglutide starting from 2018 through 2020 in a tertiary French referral center were retrospectively included. These patients were matched to children with SBS-IF on HPN followed during the same 3-year period who were eligible for the teduglutide but were not treated.

SwiftNINJA steerable microcatheter: a new kid on the block for selective catheterization of vascular and valvular congenital lesions.

Background: SwiftNINJA (Merit Medical Systems, USA) is a novel steerable microcatheter intended for coronary and peripheral vascular interventions. We evaluate and report the first use of SwiftNINJA in pediatric catheterization of congenital heart defects (CHDs).

Methods: We performed a retrospective clinical data review of children with CHDs in whom SwiftNINJA was used during cardiac catheterization between April 2022 and June 2023.

Protocol for live imaging of bacteria-cell interactions in genetically modified mouse small intestinal organoids.

Here, we present a protocol for microinjection of bacteria into mouse small intestinal organoids that recapitulates the natural route of infection of intestinal epithelial cells from the intestinal lumen. We describe steps for visualizing bacteria-cell interactions by live imaging of infected organoids using light sheet microscopy. We then detail procedures for generating doxycycline-inducible expression of mutant proteins in organoids to study essential gene functions.

Reduction of lens size in PAX6-related aniridia.

Heterozygous mutation of PAX6 in humans leads to congenital aniridia (OMIM 106210) which is typified by congenital iris and foveal defects, and later onset glaucoma, aniridic keratopathy, and cataract. Mice heterozygous for Pax6 mutations phenocopy many aspects of aniridia including the iris defects, keratopathy and cataract, although Pax6 mutant mice have small lenses, a phenotype which is not typically reported in human aniridia, perhaps due to difficulties in measuring lens diameter during typical ophthalmic examinations as the lens periphery is shielded by the iris. In order to overcome this, records of patients diagnosed with congenital aniridia between April 2015 and May 2021 at the Necker-Enfants Malades Hospital, and genetically confirmed with a disease-causing PAX6 variant, were retrospectively reviewed for those with normal axial length whose iris defects allowed visualization of the lens margins and corneal diameter to allow calculation of a lens/corneal diameter ratio.

Clinical and genomic features of Listeria monocytogenes-associated mesenteric lymphadenitis in a cat.

Background: Listeriosis is a severe foodborne infection caused by Listeria monocytogenes, an important foodborne pathogen of animals and humans. Listeriosis is a rare disease in cats.

Objective: To describe the clinical, diagnostic imaging, histological, and microbiological features of L.

Counteracting tryptophan metabolism alterations as a new therapeutic strategy for rheumatoid arthritis.

Objectives: Alterations in tryptophan (Trp) metabolism have been reported in inflammatory diseases, including rheumatoid arthritis (RA). However, understanding whether these alterations participate in RA development and can be considered putative therapeutic targets remains undetermined.In this study, we combined quantitative Trp metabolomics in the serum from patients with RA and corrective administration of a recombinant enzyme in experimental arthritis to address this question.

Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).

Even though deficits in social cognition constitute a core characteristic of autism spectrum disorders, a large heterogeneity exists regarding individual social performances and its neural basis remains poorly investigated. Here, we used eye-tracking to objectively measure interindividual variability in social perception and its correlation with white matter microstructure, measured with diffusion tensor imaging MRI, in 25 children with autism spectrum disorder (8.5 ± 3.

Developmental Trajectory of Depressive Symptoms from Early Childhood through High School in Children and Adolescents with a High Intellectual Potential.

We aimed to explore the developmental trajectory of depressive symptoms in a national sample of French children with a high intellectual potential (HIP) seeking help from gifted organizations. Participants were drawn from a national retrospective survey sent to 1200 families with HIP children (IQ ≥ 130) from primary to high school and they answered a self-report questionnaire of a depression scale (MDI-C). The children's parents completed a self-report questionnaire collected on different stages of the child's school level, perinatality, psychomotor development, health, family's history, behavior, interpersonal relationships and daily activities, school performance, presence of learning disorders and remediation.

Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures.

Background: / mutations are associated with congenital hypothyroidism and thyroid dysgenesis. Borealin is involved in mitosis as part of the Chromosomal Passenger Complex. Although mutations decrease thyrocyte adhesion and migration, little is known about the specific role of Borealin in the thyroid.

Mobility Assessment Using Multi-Positional MRI in Children with Cranio-Vertebral Junction Anomalies.

Objective: This study aimed to assess the relevance of using multi-positional MRI (mMRI) to identify cranio-vertebral junction (CVJ) instability in pediatric patients with CVJ anomalies while determining objective mMRI criteria to detect this condition.

Material And Methods: Data from children with CVJ anomalies who underwent a mMRI between 2017 and 2021 were retrospectively reviewed. Mobility assessment using mMRI involved: (1) morphometric analysis using hierarchical clustering on principal component analysis (HCPCA) to identify clusters of patients by considering their mobility similarities, assessed through delta (Δ) values of occipito-cervical parameters measured on mMRI; and (2) morphological analysis based on dynamic geometric CVJ models and analysis of displacement vectors between flexion and extension.

Glucose pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring.

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia and the daily glucose patterns in CAH. Herein, we explored the daytime glucose profile of children with classical CAH.

Methods: We conducted an observational study in 11 children (6 female; age 3.

Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.

Objective: In the placebo-controlled, double-blind phase of the Marigold study (NCT03572933), ganaxolone significantly reduced major motor seizure frequency (MMSF) in patients with cyclin-dependent kinase-like 5 deficiency disorder (CDD). We report 2-year safety and clinical outcomes data from the open-label extension (OLE) phase of Marigold.

Methods: Patients with CDD who completed the double-blind phase were eligible to continue in the OLE.

Genetic determinism and hemispheric influence in hair whorl formation.

Background: The mechanisms determining the laterality and the rotation direction of hair whorls are unknown. Here we report observations on twins investigating the genetic bases of whorl pattern formation. Knowing that vortex phenomena may depend on geographic effects, we also provide comparative data on whorls from children born in the Northern hemisphere (France) versus children born in the Southern hemisphere (Chile).

Facial dog bites in children: A public health problem highlighted by COVID-19 lockdown.

Background: Stay-at-home injunction during COVID-19 pandemic led to new dynamics in households and increased the risk of domestic accidents involving pets. The aim of the study was to demonstrate an increase of facial dog bites in children during first lockdown period in France, compared to the same period in 2018 and 2019. Secondary objective was to investigate the demographics and circumstances in which dog bites occurred.