0000000000955264

AUTHOR

G Marone

showing 3 related works from this author

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

2014

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…

MalePediatrics22q11.2 deletionDelayed DiagnosisTime FactorsChromosomes Human Pair 22Developmental Disabilitiesdigeorge syndromeSex FactorSeverity of Illness IndexRetrospective StudieDiGeorge syndromeEarly DiagnosiAge FactorProspective StudiesNeonatal hypocalcemiaProspective cohort studyChildmedicine.diagnostic_testDelayed Diagnosi22q11.2 deletion; Primary immune disordersAge Factorsdel 22qMIMAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease ProgressionChild PreschoolCohortDisease ProgressionPrimary immune disordersFemaleAbnormalitiesMultipleAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child HealthHumanAdultmedicine.medical_specialtyTime FactorAdolescentMonitoringDevelopmental DisabilitieItalian Association of Pediatric Haematology and OncologyContext (language use)Risk AssessmentChromosomesFollow-Up StudieYoung AdultSex FactorsSeverity of illnessmedicineDiGeorge SyndromeHumansAbnormalities MultipleGenetic Testing22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man22q11DSPreschoolPhysiologicdigeorge syndrome; del 22qGenetic testingMonitoring PhysiologicRetrospective StudiesSettore MED/38 - Pediatria Generale e Specialisticabusiness.industryMendelian Inheritance in ManInfant NewbornInfantRetrospective cohort studymedicine.diseaseNewbornAIEOPProspective StudieEarly Diagnosis22q11.2 deletion syndromePediatrics Perinatology and Child HealthPair 22businessFollow-Up Studies
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Treatment of skeletal impairment in patients with endogenous hypercortisolism: when and how?

2014

Guidelines for the management of osteoporosis induced by endogenous hypercortisolism are not available. Both the American College of Rheumatology and the International Osteoporosis Foundation recommend to modulate the treatment of exogenous glucocorticoid-induced osteoporosis (GIO) based on the individual fracture risk profile (calculated by FRAX) and dose of glucocorticoid used, but it is difficult to translate corticosteroid dosages to different degrees of endogenous hypercortisolism, and there are no data on validation of FRAX stratification method in patients with endogenous hypercortisolism. Consequently, it is unclear whether such recommendations may be adapted to patients with endoge…

Oncologymedicine.medical_specialtyFRAXEndocrinology Diabetes and MetabolismOsteoporosisHypercortisolismAdrenal incidentaloma; Cushing's disease; Glucocorticoids; Osteoporosis; Bone Density Conservation Agents; Cushing Syndrome; Glucocorticoids; Humans; Osteoporosis; Osteoporotic Fractures; Risk FactorsEndogenyDiseaseadrenal incidentalomaBone remodelingRisk FactorsInternal medicinemedicineHumansCushing SyndromeBone Density Conservation Agentsglucocorticoidsbusiness.industrycushing's diseaseCushing's diseasemedicine.diseaseosteoporosisRheumatologyglucocorticoids; osteoporosis; cushing's disease; adrenal incidentalomaEndocrinologyAdrenal incidentaloma; CUSHING'S DISEASE; Glucocorticoids; OsteoporosisbusinessGlucocorticoidOsteoporotic Fracturesmedicine.drug
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The hypertension of Cushing's syndrome: Controversies in the pathophysiology and focus on cardiovascular complications

2014

Cushing's syndrome is associated with increased mortality, mainly due to cardiovascular complications, which are sustained by the common development of systemic arterial hypertension and metabolic syndrome, which partially persist after the disease remission. Cardiovascular diseases and hypertension associated with endogenous hypercortisolism reveal underexplored peculiarities. The use of exogenous corticosteroids also impacts on hypertension and cardiovascular system, especially after prolonged treatment. The mechanisms involved in the development of hypertension differ, whether glucocorticoid excess is acute or chronic, and the source endogenous or exogenous, introducing inconsistencies a…

Maleantihypertensive treatment; blood pressure; corticosteroids; Cushing's syndrome; hypercortisolism; hypertension; metabolic syndrome; vascular system; Animals; Blood Pressure; Cushing Syndrome; Female; Glucocorticoids; Humans; Hypertension; Male; Metabolic Syndromemedicine.medical_specialtyPhysiologyHypercortisolismReviewsCushing's syndromecorticosteroidsSettore MED/13 - EndocrinologiaCushing syndromeInternal medicineAntihypertensive treatmentInternal MedicineAnimalsHumansMedicineCorticosteroidIntensive care medicineCushing SyndromeGlucocorticoidsS syndromebusiness.industrymedicine.diseaseMetabolic syndromeantihypertensive treatment blood pressure corticosteroids Cushing's syndrome hypercortisolism; hypertension metabolic syndrome vascular systemPathophysiologyClinical trialCritical appraisalEndocrinologyBlood pressureVascular systemantihypertensive treatment; blood pressure; corticosteroids; Cushing's syndrome; hypercortisolism; hypertension; metabolic syndrome; vascular systemHypertensionBlood pressureFemaleAntihypertensive treatment; Blood pressure; Corticosteroids; Cushing's syndrome; Hypercortisolism; Hypertension; Metabolic syndrome; Vascular system; Internal Medicine; Physiology; Cardiology and Cardiovascular MedicineMetabolic syndromebusinessCardiology and Cardiovascular MedicineGlucocorticoidmedicine.drug
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