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Showing 1 to 9 of 9 for “"Thalassemia Major"”.
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Vacillating between distress and adaptation: a multi-perspective account of lived experiences of thalassemia major
Thalassemia major is a recessively inherited haematological disorder, which involves a complete lack or reduction of beta protein in the hemoglobin, causing life-threatening anemia. Management requires patients to have life-long access to a treatment regimen of fortnightly blood transfusions and …
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A whole new world: the experiences of adolescents with beta-thalassemia major as they transition to adult care
Beta-thalassemia Major (b-TM) is a chronic medical condition. Effective illness management requires adherence to arduous medical treatment to ensure a life free of life-threatening complications. This qualitative study characterizes the experiences of adolescents living with, and managing b-TM on …
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Prospective Follow-up of Patients with Beta-Thalassemia Major for Cardio-vascular Status and Cardio-vascular Pathology /// Проспективно проследяване на сърдечно-съдовия статус и сърдечно-съдовата патология при пациенти с таласемия майор
Цел: Да се съпоставят ехокардиографски показатели при пациенти с Таласемия майор(ТМ) и здрави контроли; да се корелират тези показатели с биомаркер за сърдечна недостатъчност- NT-proBNP, за да се обхванат рано тези пациенти, при които има данни за сърдечна недостатъчност и да се оптимизира …
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Analysis of Urinary Markers for Early Renal Impairment and Their Predictive Value in Patients with Thalassemia Major // Анализ на уринни маркери за ранна бъбречна увреда и тяхната предиктивна стойност при болни с Таласемия Майор
В настоящия дисертационен труд разгледахме бъбречната патология при пациентите с β- Таласемия Майор (β-ТМ) и по- специално патофизиологичните механизми за възникване на тубулопатиите и ролята на новите уринни маркери за тяхното диагностициране. Таласемиите се отнасят към групата на така наречените …
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ΣΥΜΒΟΛΗ ΣΤΗ ΜΕΛΕΤΗ ΤΟΥ ΜΕΤΑΒΟΛΙΣΜΟΥ ΤΟΥ ΟΣΤΙΚΟΥ ΚΟΛΛΑΓΟΝΟΥ ΚΑΙ ΤΗΣ ΟΣΤΙΚΗΣ ΕΝΑΛΛΑΓΗΣ ΣΤΗ V.COOLEY ΔΙΑ ΤΟΥ ΠΡΟΣΔΙΟΡΙΣΜΟΥ ΤΗΣ ΥΔΡΟΞΥΠΡΟΛΙΝΗΣ ΟΥΡΩΝ
… WERE PATIENTS STRICKEN WITH COOLEY'S ANEMIA (THALASSEMIA MAJOR). EACH SHOWED THE CHARACTERISTIC BONE CHANGES KNOWN AS OSTEOPOROSIS . THE PURPOSE OF THIS STUDY WAS TO RESEARCH THE METABOLISM OF BONECOLLAGEN AND ITS PROCESS OF TURNOVER. THE AMOUNT OF TOTAL HYDROXYPROLINE EXCRETED IN THE URINE …
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ΑΠΟΜΟΝΩΣΗ ΚΑΙ ΧΑΡΑΚΤΗΡΙΣΜΟΣ ΤΗΣ ΚΙΝΑΣΗΣ ΚΑΖΕΙΝΗΣ ΙΙ ΑΠΟ ΣΠΛΗΝΑ ΠΑΙΔΙΩΝ ΜΕ ΜΕΣΟΓΕΙΑΚΗ ΑΝΑΙΜΙΑ
… FROM CHILDREN'S SPLEEN, SUFFERING FROM BETA-THALASSEMIA MAJOR AND WAS CHARACTERIZED SDS POLYACRYLAMIDE GEL ELECTROPHORESIS AND ISOELECTRIC FOCUSING HAVE PROVED THAT THE ENZYME WAS HIGHLY PURIFIED. THE PURIFICATION STEPS INCLUDED ION EXCHANGE CHROMATOGRAPHY, AMMONIUM SULFATE FRACTIONATION AND …
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Sviluppo di vettori virali per la terapia genica della β−Talassemia
Beta−thalassemia major is a severe congenital anemi for which there is presently no curative therapy other than allogeneic hematopoietic stem cell transplantation. This therapeutic option, however, applies only to the minority of thalassemia patients who have an HLA−matched bone marrow donor. Gene …
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Determinanti genetici dell’espressione dell’emoglobina HbF
… of fetal hemoglobin (HbF, α2γ2) may reduce beta thalassemia severity. We have investigated the influence of three known major loci on the HbF trait (HBG2, rs7482144; BCL11A, rs1427407; HBS1L-MYB, rs9399137), prevalent Sardinian mutations in human Kruppel-like factor 1 (KLF1) recently reported to …
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Bioinformatics e Biostatistics applied to research in pediatric genetic disease. Clinical evidence in IFNλ4 polymorphisms associated with HCV infection in patients with beta thalassemia and WGCNA analysis weighted for IFNλ4 genotype rs12979860 to detect RPL9P18 as hub in HCV infected cell.
… (HCV). We demonstrated the same in patients with thalassemia major infected by genotype 1b of HCV. In the present first part study we retrospectively analyzed 368 anti-HCV positive patients with beta-thalassemia in two Italian major thalassemic centers (Cagliari and Turin). The strongest IFNλ4 SNP …