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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 6q25.3 region containing the genes ARID1B and ZDHHC14. It has been hypothesized that haploinsufficiency of these genes impairs normal development of the brain and is responsible for the phenotype. This case report describes a girl presenting with typical features of 6q microdeletion syndrome, including global developmental delay, speech impairment, distinct dysmorphic features, dysgenesis of the corpus callosum, common limb anomalies, and hearing loss. Chromosome analysis by array-CGH revealed a small interstitial 6q deletion spanning approximately 1.1 Mb of DNA and containing only one coding gene, ARID1B. We suggest that ARID1B is the key gene behind 6q microdeletion syndrome, and we discuss its possible role in the phenotypic manifestations.

International audienceIn-situ x-ray tomography has been used to follow deformation processes in 3D during two triaxial compression tests, one on a specimen of bio-cemented Ottawa 50-70 sand and the other on a specimen of the non-cemented sand. The global stress-strain responses show that the bio-cementation process increases the shear strength (peak deviator stress is approximately doubled), and causes the material to exhibit a linear behaviour up until peak, as well as increasing the dila-tancy angle. The residual strength of the two samples is very close at large strain. Quantitative 3D digital image analysis (porosity, cement-density and strain field measurements), reveals that a dilatant shear band gradually develops pre-peak in the reference material. The cemented sample however undergoes an abrupt change of deformation mechanism at peak stress: from homogeneous deformation to localised dilatant shearing, which is associated with a local loss of cementation

Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, dyslipidemia and osteopenia can develop. Considering the paucity of literature available, herein we provide a narrative review of these latter forms of GSDs. Main body Diagnosis is based on clinical manifestations and laboratory test results, but molecular analysis is often necessary to distinguish the various forms, whose presentation can be similar. Compared to GSD type I and III, which are characterized by a more severe impact on metabolic and glycemic homeostasis, GSD type 0, VI, IX and XI are usually known to be responsive to the nutritional treatment for achieving a balanced metabolic homeostasis in the pediatric age. However, some patients can exhibit a more severe phenotype and an important progression of the liver and muscular disease. The effects of dietary adjustments in GSD type IV are encouraging, but data are limited. Conclusions Early diagnosis allows a good metabolic control, with improvement of quality of life and prognosis, therefore we underline the importance of building a proper knowledge among physicians about these rare conditions. Regular monitoring is necessary to restrain disease progression and complications.

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. By contrast, other studies show that low vitamin D levels are associated with higher risk of cardiovascular disease (CVD) and mortality, and support that increased risk of these diseases occurs primarily in people with vitamin D deficiency. An update on these points in pediatric patients is certainly of interest to focus on possible benefits of its supplementation.

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). A machine learning bibliometric methodology was applied to evaluate the total number of papers and citations, journal and publication types, the top productive institutions and countries and their scientific collaboration, and core keywords. Results A total of 2301 papers were retrieved, with an average of 4.8 citations per article. Of this, 1078 (46.9%) were research articles, 436 (18.9%) were reviews, 363 (15.8%) were letters, 186 (8.1%) were editorials, 7 (0.3%) were conference papers, and 231 (10%) were categorized as others. The studies were published in 969 different journals, headed by The Lancet. The retrieved papers were published by a total of 12,657 authors from 114 countries. The most productive countries were the United States, China, and Italy. The four main clusters of keywords were pathogenesis and clinical characteristics (keyword occurrences: n=2240), public health issues (n=352), mental health (n=82), and therapeutic aspects (n=70). Conclusions In the pediatric field, a large number of articles were published within a limited period on COVID-19, testifying to the rush to spread new findings on the topic in a timely manner. The leading authors, countries, and institutions evidently belonged to the most impacted geographical areas. A focus on the pediatric population was often included in general articles, and pediatric research about COVID-19 mainly focused on the clinical features, public health issues, and psychological impact of the disease.

Background: 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. In subjects with a reduction of the number of NCEP-ATPIII metabolic syndrome criteria, lifestyle intervention reduced left ventricular area and volume. Intervention reduced carotid intima-media thickness in subjects showing a decrease of the systemic blood pressure; Conclusions: In children with obesity, cardiovascular impairment could be partially reversed by a healthy lifestyle intervention. To adopt prompt behavioral programs in childhood obesity is crucial both for prevention and treatment of precocious complications and could have an exponential impact on long-term morbidity and mortality.

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. Admissions data from 2019 and 2020 were analyzed and compared separately for each ED and combined. There was a 73.2% decrease in total admissions compared with the same period in 2019. With respect to admission diagnoses, there was a significant (p < 0.001) drop in infectious (−51%), respiratory (−25.5%), and nervous systems diseases (−50%) and injuries and poisoning (−17%) but not endocrine, metabolic, neoplastic, circulatory, or musculoskeletal diseases. White codes (patients with minor injuries for whom ED medical care is not required) significantly decreased by 56.3% (p < 0.001). Even if the COVID-19 pandemic represented an enormous healthcare burden in Italy, especially during the first months of the pandemic (late February to May), the workload of pediatric EDs was significantly reduced, especially for unnecessary accesses (white codes).