0000000001051099

AUTHOR

M. Cappa

showing 3 related works from this author

Impaired energy expenditure and physical activity in children affected by GH deficiency measured by SenseWear Armband: preliminary results.

2012

Background: Influence of growth hormone on energy expenditure and physical performance is clearly known. Objective and hypotheses: The aim of our study is to evaluate the energy expenditure (EE) during physical (PA) and sedentary activities (SA), in a group of children/adolescents affected by growth hormone deficiency (GHD) compared to healthy subjects, using an objective measure as SenseWear Armband (SWA-BodyMedia). Patients, methods and results: These preliminary data included 13 untreated, consecutive GHD children and adolescents (6 males) (GH peak 3 Mets) (1.5 ±0.8 vs 2.3±1 h/d), especially moderate (3-6 Mets)(1.4±0.8 vs 2.2±0.9 h/d; 5.8±3.1 vs 9.2±3.9% of daily hours) compared with hea…

Settore MED/38 - Pediatria Generale E SpecialisticaGH deficiencyenergy expenditureArmband
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GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWA…

2013

INTRODUCTION: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized. MATERIAL AND METHODS: In a series of 246 idiopathic central hypogonadism patients, we found three novel (p.V158I, p.V334M, and p.N15TfsX30) and six already known (p.L173R, p.T260M, p.R268C, p.V274D, p.V331M, and p.H20MfsX23) germline variants in the PROKR2 gene. We evaluated the effects of seven missense alterations on two different prokineticin receptor 2 (PROKR2)-dependent pathways: inositol phosphate-Ca(2+) (Gq coupling) a…

MaleKallmann syndromeEndocrinology Diabetes and MetabolismClinical BiochemistryInositol Phosphatemedicine.disease_causeBiochemistryHypogonadotropic hypogonadismGermlineReceptors G-Protein-CoupledCohort StudiesEndocrinologySettore MED/38 - Pediatria Generale E SpecialisticaAdolescent; Adult; Child; Cohort Studies; Cyclic AMP; Female; Genetic Association Studies; Humans; Hypogonadism; Inositol Phosphates; Male; Middle Aged; Mutation Missense; Receptors G-Protein-Coupled; Receptors Peptide; Signal Transduction; Young Adult; Germ-Line MutationReceptorsCyclic AMPmutations; Kallmann syndrome; septo-optic dysplasiaMissense mutationReceptorChildMutationMiddle AgedProkineticinPeptideFemaleHumanSignal TransductionAdultmedicine.medical_specialtyReceptors PeptideAdolescentAdolescent Adult Child Cohort Studies Cyclic AMP; metabolism Female Genetic Association Studies Germ-Line Mutation Humans Hypogonadism; epidemiology/genetics Inositol Phosphates; metabolism Male Middle Aged Missense Receptors; G-Protein-Coupled; genetics Receptors; Peptide; genetics Signal Transduction; genetics Young AdultInositol PhosphatesMutation MissenseGenetic Association StudieBiologyG-Protein-CoupledYoung AdultGermline mutationInternal medicinesepto-optic dysplasiamedicineHumansGenetic Association StudiesGerm-Line MutationHypogonadismBiochemistry (medical)Kallmann syndromeProkineticin receptor 2medicine.diseasePROKR2 hypogonadism prokineticinmutationsAdolescent; Adult; Child; Cohort Studies; Cyclic AMP; Female; Genetic Association Studies; Humans; Hypogonadism; Inositol Phosphates; Male; Middle Aged; Mutation; Missense; Receptors; G-Protein-Coupled; Peptide; Signal Transduction; Young Adult; Germ-Line MutationEndocrinologyMutationCohort StudieMissense
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Appropriate management of growth hormone deficiency during the age of transition: an Italian Delphi consensus statement

2022

Growth hormone deficiency (GHD) describes the impairment of growth hormone (GH) secretion by the pituitary somatotroph cells. GHD may be congenital, with causes, including genetic alterations and structural brain malformations, or acquired, including midline tumours, cranial irradiation, traumatic brain injury, central nervous system infections and inflammatory conditions. GHD in children is characterised by short stature, delayed bone maturation and abnormalities in substrate metabolism, body composition, physical and psychosocial functioning, all of which improve with recombinant human GH (rhGH) therapy. The diagnosis of GHD is based on clinical signs and symptoms, biochemistry and imagin…

growth hormone deficiencySettore MED/38 - Pediatria Generale E SpecialisticaEndocrinologyage of transitionconsensusItalian Delphi consensus statementEndocrinology Diabetes and Metabolismadolescentgrowth hormone; transition; consensusgrowth hormonetransitionTransition agegrowth hormone deficiency; Transition age; adolescent
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