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Showing 1 to 16 of 16 for “"beta thalassemia"”.
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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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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 …
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Indagini strutturali e quantitative durante lo sviluppo del rene mediante l’utilizzo di elaborazione immagini
… aberrations, such as Down syndrome and Beta Thalassemia. This study was aimed at verifying how human kidney structures, in particular glomerular shape and podocyte number, change during intrauterine life. Moreover, we evaluated if glomerular and tubular changes observed previously in …
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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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Geni modificatori della Beta talassemia e sviluppo di un algoritmo per la predizione della severità clinica
Introduction Many genetic factors influence Beta Thalassemia severity, recessive autosomal disorder with a highly variable phenotype, beyond mutations in the causative Beta-globin gene (chr 11). These factors are Alpha-globin genes defects and Fetal Hemoglobin modulators (HBG2:g.- 158C>T …
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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 …
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ΑΠΟΜΟΝΩΣΗ ΚΑΙ ΧΑΡΑΚΤΗΡΙΣΜΟΣ ΤΗΣ ΚΙΝΑΣΗΣ ΚΑΖΕΙΝΗΣ ΙΙ ΑΠΟ ΣΠΛΗΝΑ ΠΑΙΔΙΩΝ ΜΕ ΜΕΣΟΓΕΙΑΚΗ ΑΝΑΙΜΙΑ
… PURIFIED 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 …
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The Roles of Krüppel-like Transcription Factors KLF1 and KLF2 in Mouse Embryonic and Human Fetal Erythropoiesis
… the pathophysiology of sickle cell anemia and beta-thalassemia, two of the most common hemoglobinopathies, have been the focus of much research over the last century, patients affected by these diseases still lack a widely applicable and easily available cure. Sickle cell anemia and …
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Η ΝΕΦΡΙΚΗ ΣΥΜΜΕΤΟΧΗ ΣΤΗ ΜΙΚΡΟΔΡΕΠΑΝΟΚΥΤΤΑΡΙΚΗ ΑΝΑΙΜΙΑ
… WERE PERFORMED IN 41 PATIENTS WITH SICKLE CELL- BETA THALASSEMIA (S/B THAL) IN COMPARISON TO 14 NORMAL CONTROLS AND 8 SICKLE CELL (S/S) PATIENTS. POLYURIA, HYPOSTHENURIA AND MILD PROTEINURIA WERE COMMON IN BOTH S/B AND S/S PATIENTS. A RENAL CONCENTRATING DEFECT WAS MANIFEST IN ALL AND AN …
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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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Family Environment and Pediatric Sickle Cell Disease: Patterns of Health Care Utilization and Academic Achievement
… This study included 41 youth with HbSS or HbS beta-thalassemia. Youth were administered the Woodcock-Johnson III Achievement, and caregivers completed the Family Environment Scale. Sociodemographic characteristics were collected, and medical history information was obtained via retrospective …
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Analysis Of The Mouse p100H Mutation: Implications For Two Disease Related Genes: P and Sox6
… strategies for treating sickle cell anemia and beta thalassemia.
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ATHEROSCLEROSIS AND ENDOTHELIAL DYSFUNCTION IN THALASSEMIA
In the last decades, thalassemia patients’ survival has dramatically improved thus, new disease-related and age-related comorbidities are emerging. Little is known about the impact of atherosclerotic cardiovascular disease on these patients. The 2021 European Society of Cardiology (ESC) guidelines …
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Design, synthesis and characterization of new iron and aluminium chelating agents
… due to disorders on metal metabolism, such as beta-thalassemia, hemochromatosis (Fe), and neurodegenerative diseases (Cu, Fe, Zn and Al). The study of metal chelators for clinical applications, either as chelating therapeutics able to target specific metal ions in the body, or as metal-carriers …
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Identificazione e analisi funzionale di fattori regolatori dei geni globinici
… hemoglobin (HbF) levels, number of F cell and β-thalassemia severity: the HBS1L-MYB intergenic region and the BCL11A gene. In order to understand the functional role of the associated variants at these loci we applied “Genome Wide Chromosome Conformation Capture” (Hi-C), followed by a novel …
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Sviluppo di una piattaforma per la diagnosi prenatale non invasiva di malattie genetiche in epoca gestazionale precoce
… for non invasive prenatal diagnosis of β- thalassemia which is based on semiconductor sequencing (Ion Torrent PGM) and fetal haplotype inference. In particular, the approach is based on target sequencing of the mutation site, the β°39 non sense mutation of the HBB gene, and several …