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Papers by roberta renni

Research paper thumbnail of Analysis of HLA-DRB1*-A* and -B* alleles in prenatal diagnosis for determination of maternal contamination in fetal DNA

Molecular Human Reproduction, 2002

During chorionic villi sampling for prenatal diagnosis with molecular biology techniques, contami... more During chorionic villi sampling for prenatal diagnosis with molecular biology techniques, contamination by maternal decidua frequently occurs and can lead to misinterpretation of the test results. To avoid such problems, we present a new method for appraising maternal contamination of fetal DNA, based on genomic typing of the highly variable human leukocyte antigen (HLA) locus-DRB1 # , locus A # and locus B # regions by genetic amplification with sequence-specific primers and PCR. Fetal DNA samples obtained for β-thalassemia diagnosis were analysed after artificial contamination with increasing maternal DNA concentrations ranging from 0.5 to 10% (0.5, 1, 3, 5 and 10%). The approach was found to be rapid, specific, reproducible and highly sensitive and permits recognition of 1-3% contamination by maternal DNA concentrations. The system currently used for detecting maternal DNA contamination in fetal samples is the analysis of polymorphic loci by variable number of tandem repeats and/or short tandem repeats. We propose that the analysis of HLA alleles may provide a valid alternative or complement to this system.

Research paper thumbnail of P1514: Multi-Parametric Cardiac Magnetic Resonance for Risk Prediction of Heart Failure Death in Thalassemia Major

Research paper thumbnail of HFE gene mutations an Apulian population: Allele frequencies

European Journal of Epidemiology, 2002

Hereditary hemochromatosis (HH) is an autosomal recessive trait regarding iron metabolism frequen... more Hereditary hemochromatosis (HH) is an autosomal recessive trait regarding iron metabolism frequently found in Caucasian populations. The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major genetic basis for the phenotypic expression of HH whereas two additional mutations of the HFE H63D and S65C gene appear to be associated with a milder form of HH. A high allele frequency of C282Y and H63D has been reported in Northern European populations. In Italy, the overall allele frequency was 0.5% for the C282Y mutation, 12.6% for the H63D mutation and 1.1% for the S65C mutation. In this study, we evaluated the allele frequency of the three principal HFE mutations (C282Y, H63D, S65C) together with eight additional mutations (V53M, H63H, Q127H, E168Q, E168stop, W169stop, V59M, Q238P) in 500 healthy Apulian subjects. No subject homozygous for the C282Y mutation was found while 3% of subjects were heterozygous for this mutation. Heterozygosity and homozygosity for the H63D mutation were 26 and 1%, respectively. Only five subjects were heterozygous for the S65C mutation. Overall, the allele frequency was 1.5% for C282Y, 14% for H63D, 0.5% for S65C and 0% for the other mutations. The transferrin saturation (TS) was significantly higher in subjects heterozygous for the H63D mutations with respect to subjects with a normal genotype, though all were within the normal range. No statistically significant difference in the allele frequency was noted in the Apulian population compared to that in Northern and Southern Italy.

Research paper thumbnail of P3329Long term prospective predictors for vascular events and cardiac complications in thalassemia major patients

European Heart Journal, 2017

right bundle brunch block presented higher RV end-diastolic (85±21 mL/m 2 vs 72±16 mL/m 2 , p=0.0... more right bundle brunch block presented higher RV end-diastolic (85±21 mL/m 2 vs 72±16 mL/m 2 , p=0.015; 112±34 mL/m 2 vs 76±21 mL/m 2 , p=0.002) and RV end systolic volumes (44±17 mL/m 2 vs 33±12 mL/m 2 , p=0.014; 68±37 mL/m 2 vs 37±19 mL/m 2 , p=0.004). A moderate positive correlation was found between RVEF with LVEF (r=0.452, p<0.001) and RV end-systolic volume with left atrium diameter (r=0.414, p=0.001). There were no differences in RV parameters according to the presence of late gadolinium enhancement or noncompaction criteria. When analyzing prognostic factors, RVEF was predictor of the composite outcome (OR 1.066, 95% CI [1.004-1.132], p=0.036). Conclusions: RV dysfunction was frequent in DCM patients and was associated with some features of worse clinical outcome. RV functional profile didn't vary between idiopathic or familial DCM or according to molecular results.

Research paper thumbnail of Switching from dispersible to film coated tablet formulation of deferasirox improves hemoglobin levels and transfusional interval in patients with transfusion‐dependent‐thalassemia

British Journal of Haematology, 2020

Research paper thumbnail of A prospective MRI study of left ventricular iron and function in non-trasfusion-dependent thalassemia intermedia patients treated with desferrioxamine

Journal of Cardiovascular Magnetic Resonance, 2015

Research paper thumbnail of Is HCV Infection a Risk Factor for Cardiac Complications in TM

Research paper thumbnail of Quantitative T2*MRI for Bone Marrow Iron Overload Assessment in Thalassemia Major and Intemedia Patients

Blood, 2014

Introduction. Multiecho T2* MRI is a well-established technique for cardiac and hepatic iron over... more Introduction. Multiecho T2* MRI is a well-established technique for cardiac and hepatic iron overload assessment, but there are limited data on its potential to quantify iron in other organs. The aims of this study were to describe for the first time the T2* values of the bone marrow in patients with thalassemia major (TM) and intermedia (TI) and to investigate the correlation between bone marrow T2* and iron deposition in myocardium and liver. Methods. 283 TM patients (32.25±8.28 years, 144 females) and 46 TI patients (38.30±8.73 years, 17 females) enrolled in the Myocardial Iron Overload in Thalassemia (MIOT) network underwent MRI. For the measurement of iron overload, multiecho T2* sequences were used. Bone marrow T2* values were obtained on a circular regions of interest (ROI) located in the visible body of the first or second lumbar vertebra. The left ventricle was segmented into a 16-segments standardized model and the T2* value on each segment was calculated as well as the gl...

Research paper thumbnail of Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multi-center nation-wide cohort

Haematologica, 2021

Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and ... more Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and endocrine complications. We aimed to estimate the incidence of endocrine disorders in transfusiondependent thalassemia (TDT) patients during long-term iron-chelation therapy with deferasirox (DFX). We developed a multi-center follow-up study of 426 TDT patients treated with once-daily DFX for a median duration of 8 years, up to 18.5 years. At baseline, 118, 121, and 187 patients had 0, 1, or ≥2 endocrine diseases respectively. 104 additional endocrine diseases were developed during the follow-up. The overall risk of developing a new endocrine complication within 5 years was 9.7% (95% Confidence Interval [CI]: 6.3–13.1). Multiple Cox regression analysis identified three key predictors: age showed a positive log-linear effect (adjusted hazard ratio [HR] for 50% increase 1.2, 95% CI: 1.1–1.3, P=0.005), the serum concentration of thyrotropin showed a positive linear effect (adjusted HR for 1...

Research paper thumbnail of Analysis of HLA-DRB1*-A* and -B* alleles in prenatal diagnosis for determination of maternal contamination in fetal DNA

Molecular Human Reproduction, 2002

During chorionic villi sampling for prenatal diagnosis with molecular biology techniques, contami... more During chorionic villi sampling for prenatal diagnosis with molecular biology techniques, contamination by maternal decidua frequently occurs and can lead to misinterpretation of the test results. To avoid such problems, we present a new method for appraising maternal contamination of fetal DNA, based on genomic typing of the highly variable human leukocyte antigen (HLA) locus-DRB1 # , locus A # and locus B # regions by genetic amplification with sequence-specific primers and PCR. Fetal DNA samples obtained for β-thalassemia diagnosis were analysed after artificial contamination with increasing maternal DNA concentrations ranging from 0.5 to 10% (0.5, 1, 3, 5 and 10%). The approach was found to be rapid, specific, reproducible and highly sensitive and permits recognition of 1-3% contamination by maternal DNA concentrations. The system currently used for detecting maternal DNA contamination in fetal samples is the analysis of polymorphic loci by variable number of tandem repeats and/or short tandem repeats. We propose that the analysis of HLA alleles may provide a valid alternative or complement to this system.

Research paper thumbnail of P1514: Multi-Parametric Cardiac Magnetic Resonance for Risk Prediction of Heart Failure Death in Thalassemia Major

Research paper thumbnail of HFE gene mutations an Apulian population: Allele frequencies

European Journal of Epidemiology, 2002

Hereditary hemochromatosis (HH) is an autosomal recessive trait regarding iron metabolism frequen... more Hereditary hemochromatosis (HH) is an autosomal recessive trait regarding iron metabolism frequently found in Caucasian populations. The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major genetic basis for the phenotypic expression of HH whereas two additional mutations of the HFE H63D and S65C gene appear to be associated with a milder form of HH. A high allele frequency of C282Y and H63D has been reported in Northern European populations. In Italy, the overall allele frequency was 0.5% for the C282Y mutation, 12.6% for the H63D mutation and 1.1% for the S65C mutation. In this study, we evaluated the allele frequency of the three principal HFE mutations (C282Y, H63D, S65C) together with eight additional mutations (V53M, H63H, Q127H, E168Q, E168stop, W169stop, V59M, Q238P) in 500 healthy Apulian subjects. No subject homozygous for the C282Y mutation was found while 3% of subjects were heterozygous for this mutation. Heterozygosity and homozygosity for the H63D mutation were 26 and 1%, respectively. Only five subjects were heterozygous for the S65C mutation. Overall, the allele frequency was 1.5% for C282Y, 14% for H63D, 0.5% for S65C and 0% for the other mutations. The transferrin saturation (TS) was significantly higher in subjects heterozygous for the H63D mutations with respect to subjects with a normal genotype, though all were within the normal range. No statistically significant difference in the allele frequency was noted in the Apulian population compared to that in Northern and Southern Italy.

Research paper thumbnail of P3329Long term prospective predictors for vascular events and cardiac complications in thalassemia major patients

European Heart Journal, 2017

right bundle brunch block presented higher RV end-diastolic (85±21 mL/m 2 vs 72±16 mL/m 2 , p=0.0... more right bundle brunch block presented higher RV end-diastolic (85±21 mL/m 2 vs 72±16 mL/m 2 , p=0.015; 112±34 mL/m 2 vs 76±21 mL/m 2 , p=0.002) and RV end systolic volumes (44±17 mL/m 2 vs 33±12 mL/m 2 , p=0.014; 68±37 mL/m 2 vs 37±19 mL/m 2 , p=0.004). A moderate positive correlation was found between RVEF with LVEF (r=0.452, p<0.001) and RV end-systolic volume with left atrium diameter (r=0.414, p=0.001). There were no differences in RV parameters according to the presence of late gadolinium enhancement or noncompaction criteria. When analyzing prognostic factors, RVEF was predictor of the composite outcome (OR 1.066, 95% CI [1.004-1.132], p=0.036). Conclusions: RV dysfunction was frequent in DCM patients and was associated with some features of worse clinical outcome. RV functional profile didn't vary between idiopathic or familial DCM or according to molecular results.

Research paper thumbnail of Switching from dispersible to film coated tablet formulation of deferasirox improves hemoglobin levels and transfusional interval in patients with transfusion‐dependent‐thalassemia

British Journal of Haematology, 2020

Research paper thumbnail of A prospective MRI study of left ventricular iron and function in non-trasfusion-dependent thalassemia intermedia patients treated with desferrioxamine

Journal of Cardiovascular Magnetic Resonance, 2015

Research paper thumbnail of Is HCV Infection a Risk Factor for Cardiac Complications in TM

Research paper thumbnail of Quantitative T2*MRI for Bone Marrow Iron Overload Assessment in Thalassemia Major and Intemedia Patients

Blood, 2014

Introduction. Multiecho T2* MRI is a well-established technique for cardiac and hepatic iron over... more Introduction. Multiecho T2* MRI is a well-established technique for cardiac and hepatic iron overload assessment, but there are limited data on its potential to quantify iron in other organs. The aims of this study were to describe for the first time the T2* values of the bone marrow in patients with thalassemia major (TM) and intermedia (TI) and to investigate the correlation between bone marrow T2* and iron deposition in myocardium and liver. Methods. 283 TM patients (32.25±8.28 years, 144 females) and 46 TI patients (38.30±8.73 years, 17 females) enrolled in the Myocardial Iron Overload in Thalassemia (MIOT) network underwent MRI. For the measurement of iron overload, multiecho T2* sequences were used. Bone marrow T2* values were obtained on a circular regions of interest (ROI) located in the visible body of the first or second lumbar vertebra. The left ventricle was segmented into a 16-segments standardized model and the T2* value on each segment was calculated as well as the gl...

Research paper thumbnail of Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: a risk assessment study from a multi-center nation-wide cohort

Haematologica, 2021

Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and ... more Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and endocrine complications. We aimed to estimate the incidence of endocrine disorders in transfusiondependent thalassemia (TDT) patients during long-term iron-chelation therapy with deferasirox (DFX). We developed a multi-center follow-up study of 426 TDT patients treated with once-daily DFX for a median duration of 8 years, up to 18.5 years. At baseline, 118, 121, and 187 patients had 0, 1, or ≥2 endocrine diseases respectively. 104 additional endocrine diseases were developed during the follow-up. The overall risk of developing a new endocrine complication within 5 years was 9.7% (95% Confidence Interval [CI]: 6.3–13.1). Multiple Cox regression analysis identified three key predictors: age showed a positive log-linear effect (adjusted hazard ratio [HR] for 50% increase 1.2, 95% CI: 1.1–1.3, P=0.005), the serum concentration of thyrotropin showed a positive linear effect (adjusted HR for 1...