0000000000190842

AUTHOR

S. Bernasconi

showing 2 related works from this author

Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observation…

2019

Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod™ electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of naïve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children naïve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Result…

MalePediatricsDatabases FactualChildren; ECOS; GHD; Growth hormone; Short statureEndocrinology Diabetes and MetabolismChildren; ECOS; GHD; Growth hormone; Short stature;Children; ECOS; GHD; Growth hormone; Short stature; Adolescent; Child; Cohort Studies; Databases Factual; Dwarfism Pituitary; Female; Growth Disorders; Human Growth Hormone; Humans; Italy; Male; Medication Adherence; Telemedicine; Medical Records Systems Computerized; Wearable Electronic DevicesGrowth hormoneCohort Studies0302 clinical medicineEndocrinologyChildChildrenGrowth DisordersHuman Growth HormoneChildren ECOS GHD Growth hormone Short statureObjective measurementSettore MED/38TelemedicineItaly030220 oncology & carcinogenesisCohortFemaleOriginal ArticleMedical Records Systemsmedicine.symptomCohort studymedicine.medical_specialtyAdolescentMedical Records Systems ComputerizedDwarfism030209 endocrinology & metabolismShort statureMedication AdherenceDatabasesWearable Electronic Devices03 medical and health sciencesmedicineHumansIn patientDwarfism PituitaryGrowth hormoneFactualbusiness.industryComputerizedShort staturePituitaryGh treatmentECOSObservational studybusinessGHDJournal of Endocrinological Investigation
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Molecular Analysis of the Androgen Receptor Gene in 52 Patients with Complete or Partial Androgen Insensitivity Syndrome: A Collaborative Study

1992

In patients with androgen insensitivity syndrome (AIS), RFLP study of the androgen receptor gene made it possible to analyze whether deletions or mutations could be responsible for abnormalities in androgen responsiveness. We studied RFLPs of DNA from 25 46,XY patients with partial AIS (PAIS), defined as a concentration of androgen receptor in genital-skin fibroblasts less than 340 fmol/mg DNA, and DNA from 27 46,XY patients with complete AIS (CAIS) with no detectable androgen receptor site. DNA samples were digested with BamHI, EcoRI, HindIII and TaqI restriction enzymes and hybridized with three cDNA probes covering the three domains of the androgen receptor. When we had the maternal and …

medicine.medical_specialtyX Chromosomemedicine.drug_classEndocrinology Diabetes and MetabolismMolecular Sequence DataDeoxyribonuclease HindIIIBiologyurologic and male genital diseasesPolymerase Chain Reactionchemistry.chemical_compoundEndocrinologyInternal medicinemedicineHumansPartial androgen insensitivity syndromeGeneSex Chromosome AberrationsBase SequenceAndrogen Receptor GeneDNASyndromeMetribolonemedicine.diseaseAndrogenMolecular analysisEndocrinologychemistryReceptors AndrogenMutationAndrogensAndrogen insensitivity syndromeRestriction fragment length polymorphismPolymorphism Restriction Fragment LengthDNAHormone Research
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