Maria D Cappellini

..These abnormalities can provide a feasible approach to detect a pre-clinical diabetic cardiomyopathy and could be useful for an indirect assessment of the metabolic control...

..This trial was registered at www.clinicaltrials.gov as #NCT00171210...

..The efficacy and safety profile have been evaluated in more than 1000 patients in clinical trials allowing FDA registration. Patient satisfaction with Deferasirox was superior than with DFO therapy...

..While deferoxamine, the current standard of care, is an effective iron chelator, it requires subcutaneous infusion for 8-12 h/day, 5-7 days/week. This regimen is problematic and impacts significantly on patients' daily life...

....

..It is recommended that patients treated with deferasirox are monitored regularly for iron status and adverse events, to ensure that an effective and tolerable iron chelation regimen is established for each individual patient...

..The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress. Screening programmes for the disorder are undertaken, depending on the prevalence of G6PD deficiency in a particular community...

..These encouraging results have provided the rationale for the ongoing phase III programme, and offer physicians and patients the promise of an oral, once-daily, iron-chelating agent for the prevention and management of iron overload...

..Deferasirox is an orally administered iron chelator that has been approved for use in the United States, Switzerland, and other countries...

..No agranulocytosis, arthropathy, or growth failure was associated with deferasirox administration. Deferasirox is a promising once-daily oral therapy for the treatment of transfusional iron overload...

..The clinical program demonstrated that deferasirox has a safety profile that is clinically manageable with regular monitoring...

..In this review, the molecular and cellular mechanisms leading to hypercoagulability in thalassemia are highlighted, and the current clinical experience is summarized. Recommendations for thrombosis prophylaxis are also discussed...

....

..The experience with these two drugs helps better delineate the optimal goals of iron chelation therapy and the ideal iron chelator...

....

..However, at present, there are no clear guidelines for an orchestrated optimal treatment plan...

..Three of these mutations have been detected in more than one subject. These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified...

..Serum Epo and sTfR levels were significantly increased during treatment (p < 0.05 vs baseline)...

..The therapeutic approach should be appropriate regarding specific forms of porphyria and treatment should be started promptly...

..gov identifier: NCT00171821)...

..The 109-bp mutated amplified sequence is not distinguishable from the normal sequence in single strand conformation polymorphism analysis...

..The purpose was to estimate the societal burden attributable to beta-TM in terms of direct and indirect costs, health-related quality-of-life (HRQoL), satisfaction and compliance with ICT in patients undergoing transfusions and ICT...

..Normal urinary excretion of PBG and ALA, predicted absence of neurovisceral symptoms. This paper represents the first compilation of data on genotype-phenotype relation in Italian patients with VP...

..An improvement may be observed when good control of the iron balance is reached with optimal chelation therapy...

..By RNA and long polymerase chain reaction analysis, we identified a deletion of 5576 bp (g12490_18067), including exons 3 and 4, in cis with the -250G>C mutation in the promoter...

..Data continue to accumulate in a wide range of patient groups, including those with non-transfusion-dependent anemias such as hereditary hemochromatosis...

..Longitudinal study confirmed the data of the cross-sectional study. CONCLUSIONS: Non-transferrin-bound iron could have a role in initiating or promoting alcohol-induced liver damage...

..Among the 50 molecular defects, 29 seem to be restricted to the Italian population...

..The aim of this study was to detect and correlate iron overload parameters with the oxidative stress and the antioxidant capability in beta-thalassaemia patients...

..The aim of this study was to assess oxidative damage and red cell indicators of antioxidant defences in alcoholics with mild-to-severe liver cirrhosis, taking into account the iron status...

..022 and 0.004 respectively), with men more severely affected. Analysis of COLIA1 polymorphism could help to identify those thalassaemic patients at risk of osteoporosis and fractures...

..The aims of this study were to assess the prevalence of TTV infection in adult patients with transfusion-dependent thalassemia, and to evaluate the clinical significance of TTV...

..We can conclude that the mutation screening in the Italian population contributes to improvement of the diagnostic approach of AIP and to establishing possible clustering of mutations in the Mediterranean area...

..Spleen contraction does not significantly influence exercise capacity although exercise-induced haemoconcentration was greater in patients with spleen...

....

..Recently, human recombinant erythropoietin was reported to increase frataxin levels in patients with Friedreich ataxia...

..Our preliminary results suggest a possible association between specific haplotypes of TMPRSS6 and IRIDA...

..So far, no case of B19 transmission due to single-donor transfusion has been documented...

....

..We previously described in young thalassaemic patients an altered cortisol and ACTH responsiveness suggesting an impaired adrenocortical reserve. Owing to iron overload, a worsening of adrenal function should be expected in adult patients...

..Our results indicate that the S-transcript is expressed at late stages of erythroid maturation to generate soluble b5R...

..8% of patients, suggesting the familial form of PCT (type II). In this group, the outcome of PCT seems to be less influenced by risk factors. Patients with over-normal URO-D activity in RBC deserve further investigation...

..Due to the increased risk of thromboembolic events, the rationale for splenectomy should perhaps be re-assessed and the role of transfusion therapy for the prophylaxis of thrombosis, among other complications, be evaluated prospectively...

..To our knowledge, this is the first patient affected by JH treated with combined chelation regimen...

..In a phase II study, the tolerability and efficacy of deferasirox were compared with those of DFO in 71 adults with transfusional hemosiderosis...

..In the setting of a natural history study, deferiprone therapy was associated with significantly greater cardiac protection than deferoxamine in patients with thalassemia major...

..These data show that the drug was effective in reducing serum ferritin levels and the incidence of adverse events was not greater than the frequency reported in clinical trials...

..When this is not feasible, deferasirox should be administered consistently at the same time before meals to limit the sources of variability that affect absorption...

..The interactions between gender, birth cohort, complications, and ferritin on survival and complications were analyzed...

....

..We conducted a multicenter study within the Cooleycare Group to describe the clinical and histopathological features of liver disease in currently treated thalassemics...

..Dosage was determined by baseline liver iron concentration (LIC)...

..Even if the deletions include the entire HMBS and H2AFX genes and 1463 bp of the final portion of DPAGT1 gene, our patients had no other symptoms than AIP...

..We evaluated the possible role of K-Cl co-transport (KCC) in both normal and beta-thalassemic erythropoiesis in vitro...

....

..0212) were observed. CONCLUSIONS: The erythropoietic changes observed in marathon runners are the results of several interacting mechanisms that involve either the haemopoietic system per se or erythrocyte haemolysis and oxidative stress...

..The weaker allele expression has been controversially associated to the presence of different intragenic polymorphisms...

..The primary objective of this study was to evaluate the efficacy of sildenafil treatment in the control of PH in patients with hemoglobinopathies...

..To compare the intelligence quotient (IQ) of patients with thalassemia major (TM) to that of normal children...

..These observations provide further support to include extramedullary hematopoiesis among the differential diagnosis of tumor-like masses in patients with hematologic diseases...

..Eighty-six percent had been infected by hepatitis C virus. Nineteen of 22 cases were diagnosed after 1993, suggesting that this problem is becoming more frequent with the aging population of thalassaemia patients...

..Therefore, we elected to study the growth hormone and insulin-like growth factor-I (GH-IGF-I) axis in a large group of adult thalassaemic subjects...