0000000001051141

AUTHOR

A. Salvatoni

showing 2 related works from this author

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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Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

2020

Abstract Background Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient’s demographic data, clinical history, and health services requirements. Methods Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results Seventy-two percent of patients admitted to …

MaleMetabolic diseaseHospitalization rateCongenital skeletal conditionHospitalization rateChildren with special health care needs; Congenital skeletal condition; Emergency department; Hospitalization rate; Isolated CNS malformation; Metabolic diseases; Multiple AED therapy; Neuromuscular diseases; Syndromic disorders; True isolated microcephaly0302 clinical medicineClinical historyMedicineChildeducation.field_of_studyNeuromuscular diseaseSettore MED/38Disabled ChildrenHospitalizationNeuromuscular diseasesSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAItalyChild PreschoolFemaleChildren with special health care needEmergency Service Hospitalmedicine.medical_specialtyAdolescentPopulationTriage CodeChildren with special health care needsSyndromic disordersChildren with special health care needs03 medical and health sciencesPharmacotherapy030225 pediatricsHumansMedical prescriptioneducationRetrospective StudiesHealth Services Needs and DemandSyndromic disorderEmergency departmentTrue isolated microcephalybusiness.industryResearchInfant NewbornInfantMetabolic diseases030208 emergency & critical care medicineEmergency departmentChildren with special health care needs Congenital skeletal conditionsEmergency department Hospitalization rate Isolated CNS malformation Metabolic diseases Multiple AED therapy Neuromuscular diseases Syndromic disorders True isolated microcephalyFamily medicineChronic DiseaseMultiple AED therapyIsolated CNS malformationbusinessFacilities and Services UtilizationItalian Journal of Pediatrics
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