Maria Rita Gamberini
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View article: Co-Induction of ULK-1 and AHSP mRNAs in Erythroid Precursor Cells Isolated From a Sirolimus-Treated β-Thalassemia Patient: A Case Report Study
Co-Induction of ULK-1 and AHSP mRNAs in Erythroid Precursor Cells Isolated From a Sirolimus-Treated β-Thalassemia Patient: A Case Report Study Open
Introduction The β-thalassemias are inherited genetic disorders affecting the hematopoietic system and caused by mutations of the adult β-globin gene, leading to low or absent production of adult hemoglobin. In addition, an excess of free …
View article: Prevalence and mortality trends of hemoglobinopathies in Italy: a nationwide study
Prevalence and mortality trends of hemoglobinopathies in Italy: a nationwide study Open
Not available.
View article: A β-Thalassemia Cell Biobank: Updates, Further Validation in Genetic and Therapeutic Research and Opportunities During (and After) the COVID-19 Pandemic
A β-Thalassemia Cell Biobank: Updates, Further Validation in Genetic and Therapeutic Research and Opportunities During (and After) the COVID-19 Pandemic Open
Background: Cellular biobanks are of great interest for performing studies finalized in the development of personalized approaches for genetic diseases, including β-thalassemia and sickle cell disease (SCD), important diseases affecting th…
View article: Increased Expression of α-Hemoglobin Stabilizing Protein (AHSP) mRNA in Erythroid Precursor Cells Isolated from β-Thalassemia Patients Treated with Sirolimus (Rapamycin)
Increased Expression of α-Hemoglobin Stabilizing Protein (AHSP) mRNA in Erythroid Precursor Cells Isolated from β-Thalassemia Patients Treated with Sirolimus (Rapamycin) Open
Background/Objectives: in β-thalassemia, important clinical complications are caused by the presence of free α-globin chains in the erythroid cells of β-thalassemia patients. These free α-globin chains are present in excess as a result of …
View article: Longitudinal prospective comparison of pancreatic iron by magnetic resonance in thalassemia patients transfusion-dependent since early childhood treated with combination deferiprone-desferrioxamine vs deferiprone or deferasirox monotherapy.
Longitudinal prospective comparison of pancreatic iron by magnetic resonance in thalassemia patients transfusion-dependent since early childhood treated with combination deferiprone-desferrioxamine vs deferiprone or deferasirox monotherapy. Open
In transfusion-dependent patients who started regular transfusions in early childhood, combined DFP+DFO was significantly more effective in reducing pancreatic iron than was either DFP or DFX.
View article: Decrease in α-Globin and Increase in the Autophagy-Activating Kinase ULK1 mRNA in Erythroid Precursors from β-Thalassemia Patients Treated with Sirolimus
Decrease in α-Globin and Increase in the Autophagy-Activating Kinase ULK1 mRNA in Erythroid Precursors from β-Thalassemia Patients Treated with Sirolimus Open
The β-thalassemias are hereditary monogenic diseases characterized by a low or absent production of adult hemoglobin and excess in the content of α-globin. This excess is cytotoxic for the erythroid cells and responsible for the β-thalasse…
View article: Impact of the COVID-19 Pandemic on Iron Overload Assessment by MRI in Patients with Hemoglobinopathies: The E-MIOT Network Experience
Impact of the COVID-19 Pandemic on Iron Overload Assessment by MRI in Patients with Hemoglobinopathies: The E-MIOT Network Experience Open
Background. The E-MIOT (Extension-Myocardial Iron Overload in Thalassemia) project is an Italian Network assuring high-quality quantification of tissue iron overload by magnetic resonance imaging (MRI). We evaluated the impact of the COVID…
View article: Decrease of α-Globin and Increase of the Autophagy-Activating Kinase ULK1 mRNA in Erythroid Precursors from β-Thalassemia Patients Treated with Sirolimus
Decrease of α-Globin and Increase of the Autophagy-Activating Kinase ULK1 mRNA in Erythroid Precursors from β-Thalassemia Patients Treated with Sirolimus Open
The β-thalassemias are hereditary monogenic diseases characterized by low or absent production of adult hemoglobin and excess in the content of α-globin. This excess is cytotoxic for the erythroid cells and responsible of the β-thalassemia…
View article: The Long Scientific Journey of Sirolimus (Rapamycin): From the Soil of Easter Island (Rapa Nui) to Applied Research and Clinical Trials on β-Thalassemia and Other Hemoglobinopathies
The Long Scientific Journey of Sirolimus (Rapamycin): From the Soil of Easter Island (Rapa Nui) to Applied Research and Clinical Trials on β-Thalassemia and Other Hemoglobinopathies Open
In this review article, we present the fascinating story of rapamycin (sirolimus), a drug able to induce γ-globin gene expression and increased production of fetal hemoglobin (HbF) in erythroid cells, including primary erythroid precursor …
View article: P1461: INFLAMMATORY AND SENESCENCE-ASSOCIATED MEDIATORS AFFECT THE PERSISTENCE OF HUMORAL RESPONSE TO COVID-19 MRNA VACCINATION IN TRANSFUSION-DEPENDENT BETA-THALASSEMIC PATIENTS
P1461: INFLAMMATORY AND SENESCENCE-ASSOCIATED MEDIATORS AFFECT THE PERSISTENCE OF HUMORAL RESPONSE TO COVID-19 MRNA VACCINATION IN TRANSFUSION-DEPENDENT BETA-THALASSEMIC PATIENTS Open
Topic: 27. Thalassemias Background: Patients with Transfusion-Dependent β-thalassemia (TDT) are characterized by an impaired innate and adaptive immune response, mainly due to chronic transfusions and iron overload. We recently reported an…
View article: Effects of Sirolimus Treatment on Fetal Hemoglobin Production and Response to SARS-CoV-2 Vaccination: A Case Report Study
Effects of Sirolimus Treatment on Fetal Hemoglobin Production and Response to SARS-CoV-2 Vaccination: A Case Report Study Open
The β-thalassemias are a group of monogenic hereditary hematological disorders caused by deletions and/or mutations of the β-globin gene, leading to low or absent production of adult hemoglobin (HbA). For β-thalassemia, sirolimus has been …
View article: Inflammatory and senescence‐associated mediators affect the persistence of humoral response to <scp>COVID</scp>‐19 <scp>mRNA</scp> vaccination in transfusion‐dependent beta‐thalassemic patients
Inflammatory and senescence‐associated mediators affect the persistence of humoral response to <span>COVID</span>‐19 <span>mRNA</span> vaccination in transfusion‐dependent beta‐thalassemic patients Open
Survival and complication-free survival in patients with transfusion-dependent β-thalassemia (TDT) continue to improve in settings with adequate access to care, but several frailty traits persist and remain to be fully elucidated.1 TDT pat…
View article: Multi-Parametric Cardiac Magnetic Resonance for Prediction of Heart Failure Death in Thalassemia Major
Multi-Parametric Cardiac Magnetic Resonance for Prediction of Heart Failure Death in Thalassemia Major Open
We assessed the prognostic value of multiparametric cardiovascular magnetic resonance (CMR) in predicting death from heart failure (HF) in thalassemia major (TM). We considered 1398 white TM patients (30.8 ± 8.9 years, 725 women) without a…
View article: Incidence of cancer and related deaths in hemoglobinopathies: A follow‐up of 4631 patients between 1970 and 2021
Incidence of cancer and related deaths in hemoglobinopathies: A follow‐up of 4631 patients between 1970 and 2021 Open
Background The correlation between thalassemia and malignancies other than hepatocellular carcinoma (HCC) and the possible relationship between other hemoglobinopathies and tumor risk have been poorly evaluated. Methods Eight Italian speci…
View article: The role of opportunistic quantitative computed tomography in the evaluation of bone disease and risk of fracture in thalassemia major
The role of opportunistic quantitative computed tomography in the evaluation of bone disease and risk of fracture in thalassemia major Open
Objective Dual‐energy X‐ray absorptiometry (DXA) remains the cornerstone for osteoporosis evaluation in Thalassemia major. However, several drawbacks have been observed in this unique setting. We sought to determine the correlation between…
View article: Left ventricular global function index is associated with myocardial iron overload and heart failure in thalassemia major patients
Left ventricular global function index is associated with myocardial iron overload and heart failure in thalassemia major patients Open
Purpose. The left ventricular global function index (LVGFI) is a comprehensive marker of cardiac performance, integrating LV morphology with global function. We explored the cross-sectional association of LVGFI with myocardial iron overloa…
View article: Beta‐thalassaemia major: Prevalence, risk factors and clinical consequences of hypercalciuria
Beta‐thalassaemia major: Prevalence, risk factors and clinical consequences of hypercalciuria Open
Summary Regular transfusion and chelation therapy produces increased life expectancy in thalassaemic patients who may develop new complications. Since few data are available regarding hypercalciuria in β‐thalassaemia major (TM), the aim of…
View article: Crushed deferasirox <scp>film‐coated</scp> tablets in pediatric patients with transfusional hemosiderosis: Results from a <scp>single‐arm</scp>, interventional phase 4 study (<scp>MIMAS</scp>)
Crushed deferasirox <span>film‐coated</span> tablets in pediatric patients with transfusional hemosiderosis: Results from a <span>single‐arm</span>, interventional phase 4 study (<span>MIMAS</span>) Open
Iron overload in transfusion-dependent refractory anemias among pediatric patients is associated with end-organ damage, growth retardation, problems with sexual development, and an increased risk of mortality.1, 2 Treatment adherence is cr…
View article: Thalassaemia is paradoxically associated with a reduced risk of in‐hospital complications and mortality in COVID‐19: Data from an international registry
Thalassaemia is paradoxically associated with a reduced risk of in‐hospital complications and mortality in COVID‐19: Data from an international registry Open
Although numerous patient‐specific co‐factors have been shown to be associated with worse outcomes in COVID‐19, the prognostic value of thalassaemic syndromes in COVID‐19 patients remains poorly understood. We studied the outcomes of 137 C…
View article: Efficacy and Safety of Teriparatide in Beta-Thalassemia Major Associated Osteoporosis: A Real-Life Experience
Efficacy and Safety of Teriparatide in Beta-Thalassemia Major Associated Osteoporosis: A Real-Life Experience Open
Osteoporosis represents a relevant cause of morbidity in adult Thalassemia Major (TM) population. Antiresorptive drugs such as bisphosphonates were demonstrated effective in preventing bone loss. Teriparatide (TP) is an anabolic agent appr…
View article: Link between Genotype and Multi-Organ Iron and Complications in Children with Transfusion-Dependent Thalassemia
Link between Genotype and Multi-Organ Iron and Complications in Children with Transfusion-Dependent Thalassemia Open
We evaluated the impact of the genotype on hepatic, pancreatic and myocardial iron content, and on hepatic, cardiac and endocrine complications in children with transfusion-dependent β-thalassemia (β-TDT). We considered 68 β-TDT patients (…
View article: Atrial Fibrillation in β-Thalassemia: Overview of Mechanism, Significance and Clinical Management
Atrial Fibrillation in β-Thalassemia: Overview of Mechanism, Significance and Clinical Management Open
Thalassemia is an inherited blood disorder with worldwide distribution. Transfusion and chelation therapy have radically improved the prognosis of β-thalassemic patients in the developed world, but this has led to the development of new ch…
View article: Expression of γ-globin genes in β-thalassemia patients treated with sirolimus: results from a pilot clinical trial (Sirthalaclin)
Expression of γ-globin genes in β-thalassemia patients treated with sirolimus: results from a pilot clinical trial (Sirthalaclin) Open
Introduction: β-thalassemia is caused by autosomal mutations in the β-globin gene, which induce the absence or low-level synthesis of β-globin in erythroid cells. It is widely accepted that a high production of fetal hemoglobin (HbF) is be…
View article: Long-term safety and erythroid response with luspatercept treatment in patients with β-thalassemia
Long-term safety and erythroid response with luspatercept treatment in patients with β-thalassemia Open
Background: β-thalassemia is a hereditary blood disorder resulting in ineffective erythropoiesis and anemia. Management of anemia with regular blood transfusions is associated with complications including iron overload. Here, we report lon…
View article: Expression of γ-globin genes in β-thalassemia patients treated with sirolimus: results from a pilot clinical trial (Sirthalaclin)
Expression of γ-globin genes in β-thalassemia patients treated with sirolimus: results from a pilot clinical trial (Sirthalaclin) Open
Introduction The β-thalassemias are due to autosomal mutations of the β-globin gene, inducing absence or low-level synthesis of β-globin in erythroid cells. It is widely accepted that high production of fetal hemoglobin (HbF) is beneficial…
View article: Italian patients with hemoglobinopathies exhibit a 5‐fold increase in age‐standardized lethality due to SARS‐CoV‐2 infection
Italian patients with hemoglobinopathies exhibit a 5‐fold increase in age‐standardized lethality due to SARS‐CoV‐2 infection Open
Since the beginning of the COVID-19 pandemic, concerns have been expressed worldwide for patients with hemoglobinopathies and their vulnerability to SARS-CoV-2 infection. Data from Lebanon confirmed a role of underlying comorbidities on CO…