Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study.

Background: X-linked hypophosphatemic rickets (XLH) is associated with uninhibited FGF23 activity, which leads to phosphaturia, hypophosphatemia and depressed active vitamin D (1,25OH2D) levels. Conventional treatment with phosphate supplements and vitamin D analogs may lead to hypercalciuria (HC), nephrocalcinosis (NC) and hyperparathyroidism. We investigated the effects of burosumab treatment, an anti-FGF23 monoclonal antibody recently approved for XLH, on these complications.

Virtual reality's impact on children with type 1 diabetes: a proof-of-concept randomized cross-over trial on anxiety, pain, adherence, and glycemic control.

Aims:  Assess the effectiveness of virtual reality (VR) technology, in reducing pain and anxiety, and improving adherence and glycemic control among children with type 1 diabetes (T1D).

Methods: Children with T1D, managed with continuous glucose monitoring and insulin pumps, were recruited for a randomized cross-over trial. Children were randomized to one of two interventions for diabetes management: group 1 used VR glasses first and group 2 listened to vocal-guided affective imagery first (audio).

Fracture risk among children and adolescents with celiac disease: a nationwide cohort study.

Background: Metabolic bone disease is a common manifestation of celiac disease (CD). We aimed to assess fracture risk among children and adolescents with CD compared with a matched group.

Methods: This registry-based cohort study included 2372 children with CD who were matched 1:5 to 11,860 children without CD.

Linear growth of children with X-linked hypophosphatemia treated with burosumab: a real-life observational study.

Unlabelled: To assess the long-term efficacy of burosumab for pediatric patients with X-linked hypophosphatemia, focusing on linear growth. This multi-center retrospective study included 35 pediatric patients who began treatment with burosumab between January 2018 and January 2021. We collected clinical data, anthropometric measurements, laboratory results, and Rickets Severity Score (RSS), from 2 years prior to treatment initiation and up to 4 years after.

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

Context: Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary osteodystrophy. Unawareness of this rare disease leads to delays in diagnosis.

Objective: The aims of this study were to describe the clinical and molecular characteristics of patients with genetically confirmed GNAS mutations and to evaluate their long-term outcomes.

The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning.

Purpose: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS).

Trabecular Bone Score Change Is Not Predicted by Bone Turnover: Short-term Sequential Follow-up.

Background: Trabecular bone score (TBS) reflects vertebrae microarchitecture and assists in fracture risk assessment. The International Society of Clinical Densitometry postulates that the role of TBS in monitoring antiresorptive therapy is unclear. Whether changes in TBS correlate with bone resorption measured by bone turnover markers is not known.

Increased fracture risk among children diagnosed with attention- deficit/hyperactivity disorder: a large matched cohort study.

To analyse the risk of fractures among children with attention-deficit/hyperactivity disorder (ADHD) compared with matched children without ADHD; and to evaluate the impact of pharmacological treatment. This registry-based cohort study included 31,330 children diagnosed with ADHD and a comparison group of 62,660 children matched by age, sex, population sector and socioeconomic status. Demographic and clinical information was extracted from the electronic database of Meuhedet, a health maintenance organization.

Growth hormone treatment and the risk of adolescent scoliosis: A large matched cohort study.

Aim: We aimed to evaluate the risk of developing adolescent scoliosis among recipients of recombinant human growth hormone (rhGH).

Methods: This registry-based cohort study included 1314 individuals who initiated rhGH treatment since 2013, treated during 10-18 years of age for at least 6 months. This group was matched to a comparison group of 6570 individuals not treated with rhGH.

Decreases in pediatric fractures during the COVID-19 pandemic - a nationwide epidemiological cohort study.

The COVID-19 pandemic led to fundamental changes in daily routines of children. Our aim was to evaluate the incidence and characteristics of fractures among Israeli children during 2020 compared with 2015-2019. Demographic, clinical data, and incidence rates of fractures in individuals aged < 18 years were derived from the electronic database of Meuhedet Health Services, which provides healthcare services to 1.

Changes in trabecular bone score and bone density in female adolescents with anorexia nervosa: a longitudinal study.

Impaired bone health is a common complication of anorexia nervosa (AN). We aimed to assess longitudinal changes in bone mineral density (BMD) and trabecular bone score (TBS), a measure of bone quality, in female adolescents with anorexia nervosa (AN). We conducted a retrospective longitudinal study of 41 female adolescents with AN who underwent two dual-energy X-ray absorptiometry (DXA) scans.

Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome.

Unlabelled: 22q11.2 deletion syndrome (22q11.2DS) is characterised by high rates of psychotic disorders and immune abnormalities.

Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome.

Objectives: To evaluate various clinical aspects, specifically regarding immune status, in a large cohort of patients with DiGeorge syndrome.

Study Design: Data were collected for 98 patients with DiGeorge syndrome treated at a tertiary medical center. This included general information, laboratory results, and clinical features.

Central precocious puberty after resection of a virilising adrenocortical oncocytic tumour.

Adrenocortical oncocytic tumours are a histological subtype of adrenal neoplasms with a distinctive morphological appearance. Since these tumours are composed of cells of the adrenal cortex, they may act as functional tumours with excess hormone production. They may cause Cushing's syndrome, inappropriate virilisation or precocious puberty.

Effectiveness of Metformin for Weight Reduction in Children and Adolescents Treated with Mixed Dopamine and Serotonin Receptor Antagonists: A Naturalistic Cohort Study.

Mixed dopamine and serotonin receptor antagonists (DSRAs) are associated with significant weight gain and its complications. Our aim was to evaluate the effectiveness of metformin in reducing body mass index (BMI) and metabolic parameters in children treated with DSRAs. We report a naturalistic study of 49 children and adolescents (mean age 14.

Dual diagnosis of type 1 diabetes mellitus and attention deficit hyperactivity disorder.

Background: Data regarding glycemic control in children and adolescents with a dual diagnosis of type 1 diabetes mellitus (T1DM) and attention-deficit/hyperactivity disorder (ADHD) are limited.

Objective: To compare various aspects of diabetes control among youth with T1DM, between those with and without ADHD.

Methods: In this cross-sectional study of youth with T1DM, 39 had ADHD (mean age 14.

Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys.

A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglycemia, a raised hemoglobin A1c and positive islet cell autoantibodies. Additional clinical features included intellectual disability, hypoplastic kidneys and short stature.

Trabecular Bone Score in Children and Adolescents With Inflammatory Bowel Diseases.

Introduction: Trabecular bone score (TBS) is a textural index that evaluates bone microarchitecture of the lumbar spine. Our aim was to assess TBS in children with inflammatory bowel diseases and to evaluate correlations with clinical, laboratory and densitometric variables.

Methods: A retrospective study of TBS and areal bone mineral density measurements by dual-energy X-ray absorptiometry (DXA) of children with either Crohn's disease (CD) or ulcerative colitis (UC).

Questioning the Value of Brain Magnetic Resonance Imaging in the Evaluation of Children with Isolated Growth Hormone Deficiency.

Background: Isolated growth hormone deficiency (IGHD) is a relatively common disorder. Current diagnostic protocol requires a brain magnetic resonance imaging (MRI) study of the hypothalamus and the hypophysis to determine the cause after establishment of the diagnosis. This study aimed to examine the yield of brain MRI in the evaluation of children with IGHD and to define clinical and laboratory parameters that justify its performance.

Prospective Longitudinal Assessment of Linear Growth and Adult Height in Female Adolescents With Anorexia Nervosa.

Context: Growth retardation is an established complication of anorexia nervosa (AN); however, findings concerning the adult height of AN patients are inconsistent.

Objective: The objective of this work was to assess linear growth and adult height in female adolescents with AN.

Design And Setting: A prospective observational study was conducted in a tertiary university hospital.

The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal malformations including short stature, cone-shaped phalangeal epiphyses and Perthes-like changes of the hip. We describe the response to growth hormone (GH) treatment in a boy with TRPS. The patient presented at age 3.

Longitudinal changes in bone mineral density in children with inflammatory bowel diseases.

Aim: Children with inflammatory bowel disease (IBD) are prone to low bone mineral density (BMD). Our aim was to assess longitudinal changes in BMD in this population.

Methods: A retrospective longitudinal study of children with IBD, treated at two tertiary centres in Israel, who underwent two BMD measurements by dual-energy X-ray absorptiometry (DXA).

Neonatal osteoma cutis due to a mutation in GNAS.

We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.