26 research outputs found
severe insulin resistence in disguise: a familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation
AIM: Hypoglycemia in childhood is very rare and can be caused by genetic mutations or insulin-secreting neoplasms. Postprandial hypoglycemia has previously been associated with insulin receptor (INSR) gene mutations. We aimed to identify the cause of postprandial hypoglycemia in a 10-year-old boy. SUBJECTS: We studied the symptomatic proband and his apparently asymptomatic mother and elder brother. All of them were lean. METHODS: Metabolic screening of the proband included a 5-hour oral glucose tolerance test (OGTT), angio-magnetic resonance imaging, and 18 F-dihydroxyphenylalanine positron emission tomography/computed tomography imaging of the pancreas. INSR gene sequencing and in vitro functional studies of a novel INSR mutation were also undertaken. RESULTS: Fasting hyperinsulinemia was detected during metabolic screening, and 5-hour OGTT showed hypoglycemia at 240' in the proband, his mother, and brother. Pancreatic imaging showed no evidence of neoplasia. Acanthosis nigricans with high fasting insulin levels in the proband suggested severe insulin resistance and prompted INSR gene sequencing, which revealed the novel, heterozygous p.Phe1213Leu mutation in the patient and his family members. In vitro studies showed that this mutation severely impairs insulin receptor function by abolishing tyrosine kinase activity and downstream insulin signaling. CONCLUSIONS: The identification of etiological cause of hypoglycemia in childhood may be challenging. The combination of fasting hyperinsulinemia with acanthosis nigricans in a lean subject with hypoglycemia suggests severe insulin resistance and warrants INSR gene screening
Corrigendum: The silent epidemic of diabetic ketoacidosis at diagnosis of type 1 diabetes in children and adolescents in italy during the covid-19 pandemic in 2020(Front. Endocrinol., (2022), 13, (878634), 10.3389/fendo.2022.878634)
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The Silent Epidemic of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Children and Adolescents in Italy During the COVID-19 Pandemic in 2020
To compare the frequency of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes in Italy during the COVID-19 pandemic in 2020 with the frequency of DKA during 2017-2019
Analisi del concetto di fattore di sicurezza con riferimento alle opere di sostegno per le gallerie
Rethinking training in elite soccer players: comparative evidence of small-sided games and official match play in kinematic parameters.
Background: The aim of this study was to compare kinematics parameters among official matches and SSGs of an Italian premier league soccer team.
Methods: Eighteen elite professional male soccer players (4 central defenders, 4 wide defenders, 3 central midfielders, 3 box-to-box midfielders, 2 wingers and 2 strikers) took part in the study. Players were monitored during four months of full training (including preseason and in-season) and over 26 matches (14 Serie A matches, 9 Europa League matches, and 3 friendly matches), from July 2017 until November 2017. The kinematic parameters during official matches and SSGs were evaluated through video match analysis.
Results: The kinematic data analysis shows that the metabolic power, that constitutes an integrated measure of acceleration and velocity, fails to reflect what occurs during actual match-play.
Conclusions: An increased attention should be place in planning SSGs during training to better reproduce actual match situations