Pulmonary valve replacement after right ventricular outflow tract reconstruction with homograft vs Contegra®: a case control comparison of mortality and morbidity.

Background: Repair of congenital heart defects involving the right ventricular outflow tract may require the implantation of a right ventricle to pulmonary artery conduit. This conduit is likely to be replaced during childhood. This study compares the operative outcomes of the replacement procedure of Contegra® and homografts in pulmonary position.

Children and adolescents with marginal zone lymphoma have an excellent prognosis with limited chemotherapy or a watch-and-wait strategy after complete resection.

Data on management of pediatric marginal zone lymphoma (MZL) are scarce. This retrospective study assessed characteristics and outcome in 66 patients who were <18 years old. Forty-four (67%) had an extranodal MZL (EMZL), 21 (32%) a nodal MZL (NMZL), and one patient a splenic MZL.

Outcomes of kidney transplantations in children weighing 15 kilograms or less: a retrospective cohort study.

Kidney transplantation (KT) is often delayed in small children because of fear of postoperative complications. We report early- and long-term outcomes in children transplanted at ≤15 kg in the two largest Belgian pediatric transplant centers. Outcomes before (period 1) and since the introduction of basiliximab and mycophenolate-mofetil in 2000 (period 2) were compared.

Faltering growth in the critically ill child: prevalence, risk factors, and impaired outcome.

Unlabelled: Low body mass index (BMI) z score is commonly used to define undernutrition, but faltering growth allows for a complementary dynamic assessment of nutritional status. We studied the prevalence of undernutrition and faltering growth at admission in the pediatric intensive care (PICU) setting and their impacts on outcome. All (685) consecutive children (aged 0 to 18 years old) admitted in a single-center PICU over a 1-year period were prospectively enrolled.

Multicentre prospective randomised single-blind controlled study protocol of the effect of an additional parent-administered sensorimotor stimulation on neurological development of preterm infants: Primebrain.

Introduction: Preterm and very low birthweight infants are at increased risk for neurodevelopmental disorders, including cerebral palsy, sensory impairment and intellectual disability. Several early intervention approaches have been designed in the hope of optimising neurological development in this context. It seems important that the intervention takes into account parental mental health, focuses on parent-child interactions and lasts sufficiently long.

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.

Background: Germline mutations of suppressor of fused homolog (SUFU) predispose to sonic hedgehog (SHH) medulloblastoma. Germline SUFU mutations have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum.

Methods: We performed a retrospective review of all patients with medulloblastoma and a germline SUFU mutation in France.

Interest of Anorectal Manometry During Long-term Follow-up of Patients Operated on for Hirschsprung's Disease.

Background/aims: Although many advances in the management of Hirschsprung's disease have recently been achieved, postoperative outcomes of these patients remain difficult in a non-negligible number of cases. Therefore, this study aims at investigating characteristics of anorectal manometry and its relationship with postoperative outcomes during long-term follow-up in Hirschsprung patients.

Methods: Patients over 4 years of age operated on for Hirschsprung's disease were interviewed to complete detailed questionnaires on bowel function.

A randomized clinical trial indicates that levamisole increases the time to relapse in children with steroid-sensitive idiopathic nephrotic syndrome.

Levamisole has been considered the least toxic and least expensive steroid-sparing drug for preventing relapses of steroid-sensitive idiopathic nephrotic syndrome (SSINS). However, evidence for this is limited as previous randomized clinical trials were found to have methodological limitations. Therefore, we conducted an international multicenter, placebo-controlled, double-blind, randomized clinical trial to reassess its usefulness in prevention of relapses in children with SSINS.

BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

We report the case of a 7-year-old male of Western European origin presenting with moderate intellectual disability, severe childhood apraxia of speech in the presence of oral and manual dyspraxia, and hypotonia across motor systems including the oral and speech motor systems. Exome sequencing revealed a de novo frameshift protein truncating mutation in the fourth exon of BCL11A, a gene recently demonstrated as being involved in cognition and language development. Making parallels with a previously described patient with a 200 kb 2p15p16.

Understanding mutational effects in digenic diseases.

To further our understanding of the complexity and genetic heterogeneity of rare diseases, it has become essential to shed light on how combinations of variants in different genes are responsible for a disease phenotype. With the appearance of a resource on digenic diseases, it has become possible to evaluate how digenic combinations differ in terms of the phenotypes they produce. All instances in this resource were assigned to two classes of digenic effects, annotated as true digenic and composite classes.

Mounier Kuhn syndrome presenting with recurrent atelectasis.

Objective and importance Mounier Kuhn syndrome is usually diagnosed in adulthood, and only a few cases have been described in childhood. Clinical presentation We present the case of a seven-year-old boy suffering from recurrent pneumonia and atelectasis. Intervention Previously performed chest X-rays showed bilateral hyperinflation and tracheobronchomegaly.

Moving forward with treatment options for HIV-infected children.

Introduction: Current international guidelines recommend to treat all HIV-1 infected patients regardless of CD4 cell count. Despite the remarkable worldwide progress for universal access to antiretroviral during the last decade, the pediatric population remains fragile due to lack of randomized studies, inappropriate antiretroviral formulations, adherence difficulties, drug toxicity and development of resistance.

Areas Covered: This review summarizes the latest recommendations and advances for the treatment of HIV-infected children and highlights the potential complications of a lifelong antiretroviral treatment initiated early in life.

Long-Term Outcomes and Quality of Life in Patients after Soave Pull-Through Operation for Hirschsprung's Disease: An Observational Retrospective Study.

Introduction:  Patients after pull-through operation for Hirschsprung's disease (HD) are at high risk of defecation disorders. This study aimed at investigating their long-term outcomes and quality of life (QoL) in comparison with controls.

Patients And Methods:  Patients older than 5 years operated on for HD were interviewed to complete detailed questionnaires on bowel function.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

Background: Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.

Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.

Twenty-Year Progression Rate to Clinical Onset According to Autoantibody Profile, Age, and Genotype in a Registry-Based Group of Children and Adults With a First-Degree Relative With Type 1 Diabetes.

Objective: We investigated whether islet autoantibody profile, genotype, and age influenced a 20-year progression to diabetes from first autoantibody positivity (autoAb) in first-degree relatives of patients with type 1 diabetes.

Research Design And Methods: Persistently islet autoAb siblings and offspring ( = 462) under 40 years of age were followed by the Belgian Diabetes Registry. AutoAbs against insulin (IAA), GAD (GADA), IA-2 antigen (IA-2A), and zinc transporter 8 (ZnT8A) were determined by radiobinding assay.

Neonatal screening improves sickle cell disease clinical outcome in Belgium.

Objectives To compare the outcomes of sickle cell disease patients diagnosed through neonatal screening with those who were not. Methods In an observational multicenter study in Belgium, 167 screened and 93 unscreened sickle cell disease patients were analyzed for a total of 1116 and 958 patient-years of follow-up, respectively. Both groups were compared with propensity score analysis, with patients matched on three covariates (gender, genotype, and central Africa origin).

NUT carcinoma in children and adults: A multicenter retrospective study.

Background: Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor defined by the presence of NUT rearrangement with a poor prognosis. This rare cancer is underdiagnosed and poorly treated.

Objective: The primary objective of this study was to describe the clinical, radiologic, and biological features of NUT carcinoma.

Differential profiles of four groups of children referred to an autism diagnostic service in Belgium: Autism-specific hallmarks.

Objective:: This article aims at exploring distinctive hallmarks of autistic disorders compared to other groups presenting mimicking and/or overlapping conditions.

Method:: The exploratory study involved 196 children with autism, intellectual disability, language impairment and psycho-affective disorders previously referred to an autism diagnostic service. The autism discriminative tool (ADT), a behavioural checklist, was used to compile and analyse the children's profiles based on the clinical information gathered during diagnostic assessments.

[Nephrogenic syndrome of inappropriate antidiuresis: Early diagnosis avoids severe hyponatremia complications].

Aim: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare disease characterized by a kidney disability to dilute urine and, as a result, severe recurrent hyponatremia. Due to wide variability in clinical expression, the diagnosis still remains a challenge for clinicians. We report our experience of a case in which NSIAD was diagnosed early.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in . The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families.