0000000000646667

AUTHOR

Mohamad Maghnie

showing 2 related works from this author

Combined therapy with insulin and growth hormone in 17 patients with type-1 diabetes and growth disorders.

2013

<b><i>Background/Aim:</i></b> Combined growth hormone (GH) and insulin therapy is rarely prescribed by pediatric endocrinologists. We investigated the attitude of Italian physicians to prescribing that therapy in the case of short stature and type-1 diabetes (T1DM). <b><i>Methods:</i></b> A questionnaire was sent and if a patient was identified, data on growth and diabetes management were collected. <b><i>Results:</i></b> Data from 42 centers (84%) were obtained. Of these, 29 centers reported that the use of combined therapy was usually avoided. A total of 17 patients were treated in 13 centers (GH was started before T1…

Malemedicine.medical_specialtyAdolescentGrowth hormone; Insulin therapy; GH deficiency; Type-1 diabetes; Turner syndromeTurner syndromeEndocrinology Diabetes and Metabolismmedicine.medical_treatmentType-1 diabeteseducationDwarfismTYPE I (INSULIN-DEPENDENT) DIABETES MELLITUSGrowth hormoneSettore MED/38 - Pediatria Generale E SpecialisticaEndocrinologyInsulin resistancePharmacotherapySurveys and QuestionnairesInternal medicineDiabetes mellitusgrowth hormone treatment; TYPE I (INSULIN-DEPENDENT) DIABETES MELLITUSTurner syndromemedicineHumansHypoglycemic AgentsInsulinChildDwarfism PituitaryGrowth hormoneGrowth DisordersGH deficiencyType 1 diabetesHuman Growth Hormonebusiness.industryInsulingrowth hormone treatmentmedicine.diseaseDiabetes Mellitus Type 1EndocrinologyChild PreschoolPediatrics Perinatology and Child HealthInsulin therapyDrug Therapy CombinationFemaleInsulin Resistancebusiness
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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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