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.

Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies.

Congenital heart defects (CHDs) are the most common form of birth defects in humans. They occur in 9 out of 1000 live births and are defined as structural abnormalities of the heart. Understanding CHDs is difficult due to the heterogeneity of the disease and its multifactorial etiology.

Right Ventricular Outflow Tract Reconstruction in Truncus Arteriosus: A 30-Year Two-Center Comparison between Homografts and Bovine Jugular Vein.

Introduction: Homografts and bovine jugular vein are the most commonly used conduits for right ventricular outflow tract reconstruction at the time of primary repair of truncus arteriosus.

Methods: We reviewed all truncus patients from 1990 to 2020 in two mid-volume centers. Inclusion criteria were primary repair, age under one year, and implantation of either homograft or bovine jugular vein.

Vertigo and dizziness in children: When to consider a neurological cause.

Vertigo is common in childhood and adolescence. Although children and adults share common causes of vertigo, epidemiology changes with aging. For instance, ischemic stroke is less frequent in childhood, whereas audiovestibular disorders, such as vestibular neuritis and the migraine equivalent, are the leading causes of vertigo.

Cystic liver lesions: a pictorial review.

Hepatic cysts (HC) are sac-like structures mainly filled with liquid and showing a distinct membrane. They are usually found incidentally through imaging. A wide spectrum of imaging patterns may be observed for common and uncommon, neoplastic and non-neoplastic diseases.

Bladder Wall Segmentation and Characterization on MR Images: Computer-Aided Spina Bifida Diagnosis.

(1) Background: Segmentation of the bladder inner's wall and outer boundaries on Magnetic Resonance Images (MRI) is a crucial step for the diagnosis and the characterization of the bladder state and function. This paper proposes an optimized system for the segmentation and the classification of the bladder wall. (2) Methods: For each image of our data set, the region of interest corresponding to the bladder wall was extracted using LevelSet contour-based segmentation.

Anti-reflux surgery in children with congenital diaphragmatic hernia: A prospective cohort study on a controversial practice.

Introduction: Gastro-esophageal reflux disease (GERD) is the most frequent long-term morbidity of congenital diaphragmatic hernia (CDH) survivors. Performing a preventive fundoplication during CDH repair remains controversial. This study aimed to: (1) Analyze the variability in practices regarding preventive fundoplication; (2) Identify predictive factors for fundoplication.

Anomalous Left Coronary Artery Connected to the Pulmonary Artery in a 15-Year-Old Girl: Case Report and Discussion on Secondary Prevention of Sudden Death.

. Anomalous left coronary artery connected to the pulmonary artery (ALCAPA) is a rare congenital heart disease. Adaptive development of sufficient heterocoronary collaterality in the newborn may allow survival to a later age.

Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.

Introduction: Aminoacyl transfer RNA (tRNA) synthetases are associated with diseases when mutations occur in their encoding genes. Pulmonary alveolar proteinosis can be caused by mutation in the methionyl-tRNA synthetase (MARS) gene while mutations in the leucine-tRNA synthetase (LARS) gene lead to infantile liver failure syndrome type 1. We report the case of a patient with LARS1 pathogenics variants and two patients with MARS1 pathogenics variants.

Technical feasibility and correlations between shear-wave elastography and histology in kidney fibrosis in children.

Background: Ultrasound elastography has been suggested for assessing organ fibrosis.

Objective: To study the feasibility of shear-wave elastography in children with kidney disease and the correlation between elasticity and kidney fibrosis in order to reduce the indications for kidney biopsy and its complications.

Materials And Methods: Four operators measured kidney elasticity in children with kidney diseases or transplants, all of whom also had a renal biopsy.

Right ventricular remodelling after endo-exclusion during pulmonary valve replacement: evaluation by cardiac magnetic resonance.

Objectives: Pulmonary valve replacement (PVR) performed for pulmonary valve regurgitation is the most common indication for reoperation during mid-to-long-term follow-up after tetralogy of Fallot repair. An aneurysmal dilation of the infundibulum is often associated secondary to the infundibulotomy performed in the first operation. The right ventricular outflow tract reconstruction with endo-exclusion aims to exclude the non-contractile segments of the dilated right ventricular.

Description of a giant hypothalamic hamartoma associated with an immature ruptured giant sacrococcygeal teratoma: a case report.

Giant hypothalamic hamartomas (GHH) are rare neonatal intracerebral congenital malformations responsible for gelastic epilepsy and/or endocrine disturbances. Sacrococcygeal teratomas (SCT) are fetal neoplasms associated with perinatal morbidity and mortality, especially hemorrhagic complications in giant examples (GSCT). Here, we describe an immature ruptured GSCT complicated by hemorrhagic shock at 32-week gestation boy requiring an emergency delivery, followed immediately by urgent surgical removal.

Management of von Willebrand disease with a factor VIII-poor von Willebrand factor concentrate: Results from a prospective observational post-marketing study.

Background: A triple-secured plasma-derived von Willebrand factor (pdVWF) almost devoid of factor VIII (FVIII):WILFACTIN , was approved in France in 2003, and then in other countries for the treatment of patients with von Willebrand disease (VWD).

Objective: To investigate long-term safety and efficacy of the product in real-life over the first 5 post-approval years.

Patients/methods: This prospective, observational, national post-marketing study (PMS) enrolled patients of all ages and VWD types.

Child with liver transplant recovers from COVID-19 infection. A case report.

We present the case of a 55-month-old girl who recovered from coronavirus disease 2019 (COVID-19) infection 5 months after undergoing liver transplantation; she had a co-infection with Epstein-Barr virus (EBV). To the best of our knowledge, this is the first case report of a COVID-19 infection in a pediatric patient with liver transplantation. Additionally, this is also the first report of confirmed co-infection between COVID-19 and EBV.

Inhibitor incidence in an unselected cohort of previously untreated patients with severe haemophilia B: a PedNet study.

The incidence of FIX inhibitors in severe hemophilia B (SHB) is not well defined. Frequencies of 3-5% have been reported but most studies to date were small, including patients with different severities, and without prospective follow-up for inhibitor incidence. Study objective was to investigate inhibitor incidence in patients with SHB followed up to 500 exposure days (ED), the frequency of allergic reactions, and the relationship with genotypes.

Psychiatric genetic counseling: A mapping exercise.

Psychiatric genetic counseling (PGC) is gradually developing globally, with countries in various stages of development. In some, PGC is established as a service or as part of research projects while in others, it is just emerging as a concept. In this article, we describe the current global landscape of this genetic counseling specialty and this field's professional development.

Diagnosis of congenital abnormalities with post-mortem ultrasound in perinatal death.

Purpose: To determine the sensitivity and specificity of post-mortem ultrasound in the diagnosis of major congenital abnormalities of fetuses using conventional autopsy as the standard of reference.

Material And Methods: All fetuses coming from terminations of pregnancy or intrauterine fetal deaths in a single institution were included. A total of 75 fetuses were included during the study period.

One-Year Outcome for Congenital Diaphragmatic Hernia: Results From the French National Register.

Objective: To evaluate the status of congenital diaphragmatic hernia (CDH) management in France and to assess predictors of adverse outcomes.

Study Design: We reviewed the first-year outcome of all cases of CDH reported to the French National Register in 2011.

Results: A total of 158 cases were included.

Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery Presenting in Adulthood: a French Nationwide Retrospective Study.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital heart disease usually diagnosed during the first months of life. Without surgical treatment, ALCAPA carries a high mortality risk, and disease presentation in adulthood is rare. We describe the diagnosis and management of patients presenting with ALCAPA in adulthood.