0000000000557464

AUTHOR

P. Grigorescu Sido

showing 2 related works from this author

Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience

2007

This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country.24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored.Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyPediatricsTime FactorsAdolescentBone diseasemedicine.medical_treatmentDiseaseWeight GainSeverity of Illness IndexHemoglobinsGeneticsmedicineHumansIn patientChildGenetics (clinical)ChemotherapyGaucher DiseasePlatelet CountRomaniabusiness.industryLiver DiseasesRomaniannutritional and metabolic diseasesAnemiaEnzyme replacement therapyMiddle Agedmedicine.diseaseCombined Modality TherapyThrombocytopeniaRecombinant Proteinslanguage.human_languageSurgeryHexosaminidasesTreatment OutcomeSplenomegalyQuality of LifeSplenectomylanguageGlucosylceramidaseFemaleBone DiseasesbusinessFollow-Up StudiesJournal of Inherited Metabolic Disease
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MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.

2007

Aim: To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD). Patients: Forty-four patients with coGHD (34 M; 9.7 ± 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n = 13); multiple pituitary hormone deficiencies (MPHD) (n=17). Results: Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94.1%), and no patient with PIGHD. Mean pituitary height (PHT SDS) was significantly lower in MPHD than in SIGHD and PIGHD. Pituitary height SDS and pituitary volume (PV) SDS correlated with IGF-I SDS and stimulated GH peaks in the SIGHD and MPHD g…

Malemedicine.medical_specialtyAdolescentGenotypeEndocrinology Diabetes and MetabolismGenotype AnalysisHypopituitarismHypopituitarismGrowth hormone deficiencyCorrelationEndocrinologyInternal medicineAge Determination by SkeletonGenotypemedicineHumansIn patientAge of OnsetChildDwarfism PituitaryRetrospective StudiesHomeodomain Proteinsbusiness.industrymedicine.diseaseMagnetic Resonance ImagingBody HeightEndocrinologyChild PreschoolPituitary GlandPediatrics Perinatology and Child HealthPituitary hormonesDisease ProgressionFemalebusinessTranscription Factor Pit-1Mri findingsJournal of pediatric endocrinologymetabolism : JPEM
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