A5062525225- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Pharmacological Effects and Toxicity Studies
- Prenatal Screening and Diagnostics
- Neonatal Health and Biochemistry
- Erythropoietin and Anemia Treatment
- Liver Disease Diagnosis and Treatment
- Trace Elements in Health
- Neurological diseases and metabolism
- Acute Myeloid Leukemia Research
- Hepatitis B Virus Studies
- Folate and B Vitamins Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- COVID-19 Clinical Research Studies
- RNA regulation and disease
- Potassium and Related Disorders
- Bone and Joint Diseases
- Hepatitis C virus research
- Pulmonary Hypertension Research and Treatments
- Cardiovascular Function and Risk Factors
- Parvovirus B19 Infection Studies
- Advanced MRI Techniques and Applications
- Hematological disorders and diagnostics
Istituto Giannina Gaslini
2024-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2024-2025
Ente Ospedaliero Ospedali Galliera
2015-2024
Ospedale Microcitemico
2014-2024
Amsterdam University Medical Centers
2023
Heidelberg University
2023
University Medical Center Utrecht
2023
Associazione Italiana Ematologia Oncologia Pediatrica
2022
University of Cagliari
2013
University of Milan
1999-2013
Measurement of myocardial iron is key to the clinical management patients at risk siderotic cardiomyopathy. The cardiovascular magnetic resonance relaxation parameter R2* (assessed clinically via its reciprocal, T2*) measured in ventricular septum used assess cardiac iron, but calibration and distribution data humans are limited.Twelve human hearts were studied from transfusion-dependent after either death (heart failure, n=7; stroke, n=1) or transplantation for end-stage heart failure...
Patients with transfusion-dependent β-thalassemia need regular red-cell transfusions. Luspatercept, a recombinant fusion protein that binds to select transforming growth factor β superfamily ligands, may enhance erythroid maturation and reduce the transfusion burden (the total number of units transfused) in such patients.
Not available.
Summary Deferasirox is a once‐daily, oral iron chelator developed for treating transfusional overload. Preclinical studies indicated that the kidney was potential target organ of toxicity. As patients with sickle cell disease often have abnormal baseline renal function, primary objective this randomised, open‐label, phase II trial to evaluate safety and tolerability deferasirox in comparison deferoxamine population. Assessment efficacy, as measured by change liver concentration (LIC) using...
Abstract Objectives/methods: This 1‐yr prospective phase II trial evaluated the efficacy of deferasirox in regularly transfused patients aged 3–81 yrs with myelodysplastic syndromes (MDS; n = 47), Diamond–Blackfan anaemia (DBA; 30), other rare anaemias ( 22) or β‐thalassaemia 85). Dosage was determined by baseline liver iron concentration (LIC). Results: In LIC ≥7 mg Fe/g dry weight, initiated at 20 30 mg/kg/d produced statistically significant decreases P < 0.001); these were greatest...
Abstract Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond‐Blackfan anemia; hemolytic due to erythrocyte membrane defects, spherocytosis stomatocytosis; enzymatic defects. The study describes the diagnostic workflow for HA, based on development two consecutive versions targeted‐NGS panel, including 34 71 genes,...
Deferiprone was shown to reverse iron deposition in Friedreich’s ataxia. This multi-center, unblinded, single-arm pilot study evaluated safety and efficacy of deferiprone for reducing cerebral accumulation neurodegeneration with brain accumulation. Four patients genetically-confirmed pantothenate kinase-associated neurodegeneration, 2 parkinsonism focal dystonia, but inconclusive genetic tests, received 15 mg/kg bid. Magnetic resonance imaging neurological examinations were conducted at...
Background— Pulmonary arterial hypertension (PAH) remains a concern in patients with β-thalassemia major (TM) and intermedia (TI); however, studies evaluating its prevalence risk factors using systematic confirmation on right heart catheterization are lacking. Methods Results— This was multicenter cross-sectional study of 1309 Italian (mean age 36.4±9.3 years; 46% men; 74.6% TM, 25.4% TI). Patients tricuspid-valve regurgitant jet velocity ≥3.2 m/s (3.6%) transthoracic echocardiography...
Cardiovascular magnetic resonance (CMR) has dramatically changed the clinical practice in thalassemia major (TM), lowering cardiac complications. We prospectively reassessed predictive value of CMR parameters for heart failure (HF) and arrhythmias TM.We considered 481 white TM patients (29.48 ± 8.93 years, 263 females) enrolled Myocardial Iron Overload Thalassemia (MIOT) network. liver iron overload were measured by T2* multiecho technique. Atrial dimensions biventricular function quantified...
Abstract We report data on survival and complications for a longitudinal cohort of 709 transfusion‐dependent β ‐thalassemia major patients (51.1% males) born between 1970 1997 followed through 2020 at seven centers in Italy. Overall probability 30 years was 83.6% (95%CI: 78.5–89.1) the oldest birth (1970–1974) compared with 93.3% 88.6–98.3) youngest (1985–1997) ( p = 0.073). Females showed better than males 0.022). There were total 93 deaths median age 23.2 most frequent disease‐related...
Hepatocellular carcinoma (HCC) frequently complicates hepatic cirrhosis secondary to viral infection or iron overload. Therefore, patients affected by thalassaemia syndromes have a theoretically high risk of developing the tumour. We collected data on attending Italian centres for treatment thalassaemia. Twenty-two cases HCC were identified; 15 male. At diagnosis, mean age was 45 +/- 11 years and serum ferritin 1764 1448 microg/l. Eighty-six percent had been infected hepatitis C virus....
Abstract A segmental, multislice, multi‐echo T 2 * MRI approach could be useful in heart iron‐overloaded patients to account for heterogeneous iron distribution, demonstrated by histological studies. However, segmental assessment can affected the presence of geometrical and susceptibility artefacts, which act on different segments ways. The aim this study was assess value distribution left ventricle develop a correction procedure compensate artefactual variations analysis. performed four...
Background Recent advances in the management of thalassemia have significantly improved life expectancy and quality patients with this hemoglobinopathy, a consequent increase their reproductive potential desire to children.Design Methods We describe methods conception delivery, as well course outcome pregnancy including transfusions, iron overload chelation 46 women major (58 pregnancies) 11 intermedia (17 pregnancies). Conception was achieved after gonadotrophin-induced ovulation 33...
<h3>Background:</h3> Cardiovascular magnetic resonance (CMR) by delayed enhancement (DE) enables visualisation of myocardial scarring, but no dedicated studies are available in thalassaemia major. <h3>Objective:</h3> To investigate the prevalence, extent, clinical and instrumental correlates fibrosis or necrosis DE CMR patients with <h3>Patients:</h3> 115 Patients major consecutively examined at an MRI laboratory. <h3>Methods:</h3> images were acquired to quantify scarring. Myocardial iron...
Summary To date, there is a lack of long‐term safety and efficacy data for iron chelation therapy in transfusion‐dependent patients with sickle cell disease (SCD). evaluate the deferasirox (a once‐daily oral chelator), SCD completing 1‐year, Phase II, randomized, deferoxamine (DFO)‐controlled study entered 4‐year extension, continuing to receive deferasirox, or switching from DFO deferasirox. Average actual dose was 19·4 ± 6·3 mg/kg per d. Of 185 who received at least one dose, 33·5%...
β-thalassemia, a hereditary blood disorder caused by defective synthesis of hemoglobin β globin chains, leads to ineffective erythropoiesis and chronic anemia that may require transfusions. Sotatercept (ACE-011) acts as ligand trap inhibit negative regulators late-stage in the transforming growth factor superfamily, correcting erythropoiesis. In this phase II, open-label, dose-finding study, 16 patients with transfusion-dependent -thalassemia 30 non-transfusion-dependent β-thalassemia were...
Summary The risk of developing hepatocellular carcinoma ( HCC ) in patients with thalassaemia is increased by transfusion‐transmitted infections and haemosiderosis. All Italian Thalassaemia Centres use an ad hoc form to report all diagnoses the Registry. Since our last report, 2002, up December 2012, 62 new cases were identified, 52% whom affected major TM 45% intermedia TI ). Two had sickle‐thalassaemia ST incidence tumour increasing, possibly because longer survival consequent exposure...