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Showing 1 to 20 of 48 for “"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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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 Meta-Analysis of Hydroxyurea Use for β-thalassemia: Implications for Clinical Practice and Medical Education
… for the majority of patients with severe β-thalassemia. However, it is associated with serious risks and complications. An alternative option is desirable and may prevent some of the problems associated with current therapy. Hydroxyurea (HU), an oral chemotherapeutic drug, is expected to …
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Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations
… of this disease. The co-inheritance of alpha-thalassemia (α-thalassemia) has been associated with a milder phenotype in SCA patients (e.g. lower stoke rate), but could also result in the increase of vaso-occlusive (VOC) pain episodes. There is a scarcity of data on the co-inheritance of …
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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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ELUCIDATING THE ROLE OF HET0016 IN AMELIORATING 20-HETE INDUCED OXIDATIVE STRESS AND LIVER INJURY IN B-THALASSEMIA: A NOVEL THERAPEUTIC TARGET
… main contributors to pathological outcomes in β-thalassemia, with their generation being a consequence of iron overload and abnormal red blood cell metabolism. We have previously shown that CYP450 mediates ROS production in the liver of a mouse model of β-thalassemia through an increase in …
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ΤΟ ΕΠΙΠΕΔΟ ΤΟΥ 2,3-ΔΙΦΩΣΦΟΡΟΓΛΥΚΕΡΙΝΙΚΟΥ ΟΞΕΩΣ ΤΩΝ ΕΡΥΘΡΩΝ ΑΙΜΟΣΦΑΙΡΙΩΝ ΣΤΗΝ ΔΡΕΠΑΝΟΚΥΤΤΑΡΙΚΗ ΝΟΣΟ
… ANEMIA; III) IN 23 PATIENTS WITHSICKLE-THALASSEMIA; IV) IN 51 INDIVIDUALS WITH SICKLE-CELL TRAIT AND V) IN 18INDIVIDUALS WITH B-THALASSEMIA TRAIT. IN GROUP I, 2,3 DPG LEVEL WAS SIGNIFICANTLY HIGHER IN WOMEN THAN IN MEN AND A NEGATIVE LINEAR RELATIONSHIP WAS FOUND BETWEEN THE VALUES OF …
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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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Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.
… as a cure for sickle cell disease (SCD) and b thalassemia, since formation of FS hybrids in SCD inhibits deoxy Hb S polymerization while increased fetal chain expression compensates partially for decreased adult b-globin chains in b thalassemia. Characterization and controlled manipulation of …
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Rheological aspects of sickle cell anemia and related hemoglobinopathies
… homozygous hemoglobin C, sickle cell beta plus thalassemia, and sickle cell beta zero thalassemia. The rheological parameters obtained from a Casson's plot were the apparent yield stress and apparent high shear rate viscosity. These were utilized in the Casson's constitutive equation used to …
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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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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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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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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 adult …
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Η ετερογένεια των γ-αλυσίδων σε περιπτώσεις με αυξημένη εμβρυϊκή αιμοσφαιρίνη
… with a heterozygosity or homozygosity for β-thalassemia, heterozygosity for δβ-thalassemia, Hb Lepore, β-thal/HbS condition and normal newborns, was quantitated by alkali denaturation and further characterized by high pressure liquid chromatography. Data for the three types of γ-chain were …
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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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ΠΡΟΓΕΝΝΗΤΙΚΗ ΔΙΑΓΝΩΣΗ Β-ΜΕΣΟΓΕΙΑΚΗΣ ΑΝΑΙΜΙΑΣ (COOLEY). ΜΕΛΕΤΗ ΤΩΝ ΑΝΑΛΟΓΙΩΝ ΤΩΝ ΓΛΟΒΙΝΙΚΩΝ ΑΛΥΣΕΩΝ ΤΗΣ ΑΙΜΟΣΦΑΙΡΙΝΗΣ ΚΑΤΑ ΤΗΝ ΠΡΟΓΕΝΝΗΤΙΚΗ ΚΑΙ ΠΕΡΙΓΕΝΝΗΤΙΚΗ ΠΕΡΙΟΔΟ
… WEEKS,WITH BOTH PARENTS BEING HETEROZYGOUS OF B-THALASSEMIA. DIAGNOSIS WAS ATTEMPTED BY USE OF THE B RATIOS OF GLOBIN CHAINS, SEPARATED BY Γ ELECTROPHORESIS. A STUDY ON THE SWITCH OF B- CΓ, AΓ, CHAINS DURING THE GESTATION. A MATHEMATIC APPROACH BY USE OF A CYBER 18 COMPUTER. GRAPHS OF THE CHANGES …
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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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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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