Search results for " Thalassemia"

Random forest analysis: a new approach for classication of Beta Thalassemia

2020

In recent years, Thalassemia care providers started classifying patients as transfusion- dependent-Thalassemia (TDT) or non-transfusion-dependent-Thalassemia (NTDT) owing to the established role of transfusion therapy in dening the clinical complication prole, although this classication was also based on expert opinion and is limited by reliance on patients'current transfusion status. Starting from a vast set of variables indicating severity phenotype, through the use of both classication and clustering techniques we want to explore the presence of two (TDT vs NTDT) or more clusters, in order to approaching to a new denition for the classication of Beta-Thalassemia in Thalassemia Syndromes …

A Novel Expert System for Non-Invasive Liver Iron Overload Estimation in Thalassemic Patients

2014

Expert Systems can integrate logic based often on computational intelligence methods and they are used in complex problem solving. In this work an Expert System for classifying liver iron concentration in thalassemic patients is presented. In this work, an ANN is used to validate the output of the L.I.O.MO.T (Liver Iron Overload Monitoring in Thalassemia) method against the output of the state-of-the-art method based on MRI T2 assessment for liver iron concentration. The model has been validated with a dataset of 200 samples. The experimental Mean Squared Error results and Correlation show interesting performances. The proposed algorithm has been developed as a plug in for OsiriX Dicom View…

Phylogenetic analysis in the clinical risk management of an outbreak of hepatitis C virus infection among transfused thalassaemia patients in Italy

2021

Background: Occurrence of hepatitis C virus (HCV) infection is reduced by effective risk management procedures, but patient-to-patient transmission continues to be reported in healthcare settings. Aim: To report the use of phylogenetic analysis in the clinical risk management of an HCV outbreak among 128 thalassaemia outpatients followed at a thalassaemia centre of an Italian hospital. Methods: Epidemiological investigation and root-cause analysis were performed. All patients with acute hepatitis and known chronic infection were tested for HCV RNA, HCV genotyping, and NS3, NS5A, and NS5B HCV genomic region sequencing. To identify transmission clusters, phylogenetic trees were built for each…

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

2022

Background: Turner syndrome is a rare genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth and without congenital malformations, the prognosis is usually positive, but it has high lethality in utero, especially in the first trimester of pregnancy. Methods: We report a case of monosomy X detected during a prenatal diagnosis for beta thalassemia on coelomic fluid (CF) at the VIII week of gestation. Beta globin gene analysis, whole genome amplification (WGA), quantitative fluorescent PCR and array comparative genomic hybridization (array-CGH) were performed on DNA extracted from CF. R…

Oxidative stress and antioxidant status in beta-thalassemia major: iron overload and depletion of lipid-soluble antioxidants

1996

Because of continuous blood transfusions, thalassemia patients are subjected to peroxidative tissue injury by the secondary iron overload. In accordance, analysis of serum from 42 beta-thalassemia patients, aged 4 to 40 years, showed that the mean concentrations of conjugated diene lipid hydroperoxides (CD), lipoperoxides evaluated as malondialdehyde/ thiobarbituric acid (MDA/TBA) adducts, and protein carbonyls increased about twofold with respect to control. Ferritin levels were positively correlated with the amount of MDA (r = .41; P = .007) and showed a positive trend with CD (r = .31; P = .07) and protein carbonyls (r = .35; P = .054), as further evidence of the deleterious effects of h…

Cytoprotective effects of the antioxidant phytochemical indicaxanthin in beta-thalassemia red blood cells

2006

Antioxidant phytochemicals are investigated as novel treatments for supportive therapy in beta-thalassemia. The dietary indicaxanthin was assessed for its protective effects on human beta-thalassemic RBCs submitted in vitro to oxidative haemolysis by cumene hydroperoxide. Indicaxanthin at 1.0-10 microM enhanced the resistance to haemolysis dose-dependently. In addition, it prevented lipid and haemoglobin (Hb) oxidation, and retarded vitamin E and GSH depletion. After ex vivo spiking of blood from thalassemia patients with indicaxanthin, the phytochemical was recovered in the soluble cell compartment of the RBCs. A spectrophotometric study showed that indicaxanthin can reduce perferryl-Hb ge…

Random Forest Analysis: A New Approach for Classification of Beta Thalassemia

2020

In recent years, Thalassemia care providers started classifying patients as transfusion-dependent-Thalassemia (TDT) or non-transfusion-dependent-Thalassemia (NTDT) owing to the established role of transfusion therapy in defining the clinical complication profile, although this classification was also based on expert opinion and is limited by reliance on patients’current transfusion status. Starting from a vast set of variables indicating severity phenotype, through the use of both classification and clustering techniques we want to explore the presence of two (TDT vs NTDT) or more clusters, in order to approaching to a new definition for the classification of Beta-Thalassemia in Thalassemia…

Myocardial fibrosis by delayed enhancement cardiovascular magnetic resonance and HCV infection in thalassemia major patients.

2010

Abstract Abstract 4265 Introduction. Delayed enhancement (DE) cardiac magnetic resonance (CMR) technique with intravenous administration of gadolinium (Gd) chelates contrast agents is the only validated non-invasive approach for detecting myocardial fibrosis (Mahrholdt H et al, Eur Heart J 2005). This technique has been confirmed safe in patients with hemoglobinopathies (Meloni A et al, Haematologica 2009). In thalassemia major (TM), myocardial fibrosis has been detected using the DE technique and a positive correlation with anti-HCV antibodies has been described (Pepe A et al, Heart 2009). However, HCV-induced cardiomyopathy is still controversial (Matsumori A et al. J Card Fail 2006). The…

Non-invasive assessment of the liver fibrosis by transient elastography (TE) in patients with transfusion-dependent thalassemia

2008

Deferasirox, deferiprone and desferrioxamine treatment in thalassemia major patients: cardiac iron and function comparison determined by quantitative…

2010

Background Oral deferiprone was suggested to be more effective than subcutaneous desferrioxamine for removing heart iron. Oral once-daily chelator deferasirox has recently been made commercially available but its long-term efficacy on cardiac iron and function has not yet been established. Our study aimed to compare the effectiveness of deferasirox, deferiprone and desferrioxamine on myocardial and liver iron concentrations and bi-ventricular function in thalassemia major patients by means of quantitative magnetic resonance imaging. Design and Methods From the first 550 thalassemia subjects enrolled in the Myocardial Iron Overload in Thalassemia network, we retrospectively selected thalasse…