Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal study.

Background: Receiving communication of positivity for metabolic diseases at Expanded Newborn Screening can be extremely stressful for parents, both in case of false positive and true positive cases. However, little is known about the predictors of distress and differential impact on mothers and fathers.

Methods: In this longitudinal study, 169 fathers and 171 mothers referred to one of the Italian metabolic centres for communication of positivity completed a survey including General Health Questionnaire-12, Emotion Thermometers (measuring stress, anxiety, depression, anger and need for help), Impact of Event Scale-Revised, Multidimensional Scale of Perceived Social Support and Emotion Regulation Questionnaire.

Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

Introduction: To evaluate and describe the diagnostic process, medical, nutritional, and surgical approach, and neurological outcome, we report data from a large Italian cohort of patients with congenital hyperinsulinism (CHI).

Methods: We retrospectively analyzed 154 CHI patients admitted to Ospedale Pediatrico Bambino Gesù from 1985 to 2022.

Results: Hypoglycemia occurred within the first year of life in 85.

Changing Admission Patterns in Pediatric Emergency Departments during the COVID-19 Pandemic in Italy Were Due to Reductions in Inappropriate Accesses.

During the initial phase of the national lockdown, we found that there were sharp decreases in admissions to two pediatric emergency departments (EDs) in northern Italy (Cremona and Novara). Here we present a detailed analysis of these admission patterns and types of admissions over a longer timeframe. ED admissions data were anonymously extracted from the departmental management software.

Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease.

Niemann-Pick C disease (NPC) is a lysosomal disease caused by mutations in NPC1 or NPC2 genes responsible for intracellular accumulation of free cholesterol and glycosphingolipids in a variety of tissues. We collected plasma samples from 15 NPC1 patients and 15 age-matched controls to analyze the impairment of lipid metabolism. Comprehensive-targeted quantitative lipidomic analysis was per-formed by Ion Mobility Mass Spectrometry, while oxysterols and lyso-sphingolipids, the classical NPC biomarkers, were analyzed by LC-MS/MS.

A Global Overview of COVID-19 Research in the Pediatric Field: Bibliometric Review.

Background: Since the beginning of the COVID-19 pandemic, a great number of papers have been published in the pediatric field.

Objective: We aimed to assess research around the globe on COVID-19 in the pediatric field by bibliometric analysis, identifying publication trends and topic dissemination and showing the relevance of publishing authors, institutions, and countries.

Methods: The Scopus database was comprehensively searched for all indexed documents published between January 1, 2020, and June 11, 2020, dealing with COVID-19 in the pediatric population (0-18 years).

Healthy Lifestyle Intervention and Weight Loss Improve Cardiovascular Dysfunction in Children with Obesity.

The aim of this study was to determine the effects of a 12-month healthy lifestyle intervention based on diet plus physical activity on cardiovascular structure and function in children and adolescents with obesity; Methods: In this longitudinal study we assessed changes in anthropometric, biochemical and cardiovascular variables in 55 subjects with obesity (6-16 years) before and after a 12-month behavioral program based on Mediterranean diet plus exercise regimen. Subjects were divided in two groups based on negative change in BMI z-score ≥10% from baseline: weight losers (WL) and non-weight losers (NWL); Results: After 12 months, WL showed a significant improvement of metabolic parameters. Treatment was effective in increasing the mitral peak early diastolic velocity E and the E/A ratio.

Vitamin D effects and endocrine diseases.

A lack of vitamin D has been linked to autoimmune diseases including type 1 diabetes, autoimmune thyroiditis and to obesity. The prevalence of vitamin D deficiency is higher in diabetic or obese children and patients with thyroiditis compared to healthy controls. Moreover, low vitamin D values seem to be associated with major complications and poor glycemic control, in particular in obese children.

Vitamin D and Cardiovascular Risk: which Implications in Children?

Vitamin D (25OHD) pleiotropic effects are widely recognized and studied. Recently, vitamin D cardiovascular effects are gaining interest, especially in children, although the studies present conflicting data. Some randomized controlled trials (RCTs) have demonstrated that cardiovascular risk markers, such as lipid parameters, inflammation markers, blood pressure, and arterial stiffness, are unaffected by vitamin D supplementation.

Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome.

Hemolytic uremic syndrome (HUS) is an unrare and severe thrombotic microangiopathy (TMA) caused by several pathogenetic mechanisms among which Shiga toxin-producing infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC) can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS) related to CblC disease which first presented in a previously healthy boy at age of 13.

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, microcephaly, and non-specific multiple organ anomalies. The critical region for the interstitial 6q microdeletion phenotype was mapped to 6q24-6q25, particularly the 6q25.