A5078005763- Acute Myeloid Leukemia Research
- Platelet Disorders and Treatments
- Lymphoma Diagnosis and Treatment
- Immunodeficiency and Autoimmune Disorders
- Hematopoietic Stem Cell Transplantation
- Blood disorders and treatments
- Blood groups and transfusion
- Immune Cell Function and Interaction
- Hemoglobinopathies and Related Disorders
- Chronic Lymphocytic Leukemia Research
- Erythrocyte Function and Pathophysiology
- Lung Cancer Treatments and Mutations
- Acute Lymphoblastic Leukemia research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Iron Metabolism and Disorders
- Neutropenia and Cancer Infections
- T-cell and B-cell Immunology
- Neonatal Health and Biochemistry
- Multiple Myeloma Research and Treatments
- Bone Tissue Engineering Materials
- Viral-associated cancers and disorders
- Sarcoma Diagnosis and Treatment
- Heparin-Induced Thrombocytopenia and Thrombosis
- CAR-T cell therapy research
- Histone Deacetylase Inhibitors Research
University of Catania
1982-2025
Tecnologie Avanzate (Italy)
2019-2025
University of Rome Tor Vergata
2001-2024
Bambino Gesù Children's Hospital
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2012-2023
Cell and Gene Therapy Catapult
2023
Policlinico Universitario di Catania
2020-2021
Azienda Ospedaliero-Universitaria Policlinico - Vittorio Emanuele
2021
National Center on Birth Defects and Developmental Disabilities
2019
Weatherford College
2015
Immune thrombocytopenia (ITP) is an acquired immune-mediated bleeding disorder characterized by isolated thrombocytopenia. Its estimated yearly incidence in the pediatric population 1.9-6.4/100,000. ITP children usually a self-limiting and benign disorder. The clinical management of with often remains controversial, as robust randomized trials on this are lacking. Treatments vary widely practice existing guidelines from hematology societies offer indications based largely expert opinion...
Anemia management in myelofibrosis (MF) remains a major challenge, often resulting blood transfusions as the condition progresses. The BEAT project aimed to quantify economic and organizational burden of anemia MF patients Italy from patient hospital perspectives. Data were collected two primary sources: (i) semi-structured interviews with 13 hematologists 1 transfusionist Italian reference centers; (ii) an online questionnaire completed by 191 distributed AIPAMM (Italian Association...
Sickle cell disease (SCD) is one of the most common monogenic worldwide. The incidence SCD not gender related since it transmitted as an autosomal recessive disorder. We retrospectively analyzed clinical records 39 pediatric patients with a diagnosis (hemoglobin SS genotype) focusing on differences analyzing various aspects comprising both acute symptoms and late complications. found in our population. Pain crisis frequency per year were significantly increased male population mean number...
A multicentre study evaluating the presence of glycosil phosphatidyl-inositol (GPI)-negative populations was performed in 85 children with acquired aplastic anemia (AA). GPI-negative population observed 41% patients at diagnosis, 48% during immune-suppressive therapy (IST), and 45% off-therapy. No association found between a diagnosis response to IST. In addition, rate IST did not differ who were GPI-positive later developed 11 remained GPI-positive. Two >10%, laboratory signs hemolysis...
Immune Thrombocytopenia (ITP) is an autoimmune disease characterized by autoantibodies-mediated platelet destruction, a prevalence of M1 pro-inflammatory macrophage phenotype and elevated T helper 1 2 lymphocytes (Th1/Th2) ratio, resulting in impairment inflammatory profile immune response. Macrophages are cells, present as classically activated macrophages (M1) or anti-inflammatory alternatively (M2). They have key role ITP, acting both effector phagocytizing platelets, and, antigen...
Abstract Background Beckwith‐Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting evolution health issues in adulthood. Methods 34 patients (16 males), aged 18–58 years (mean 28.5) BWS were enrolled. Results 26 molecularly confirmed, 5 tested negative, 3 not tested. Final tall stature was present 44%. Four developed Wilms' Tumor (2, 3, 5, 10 years, respectively); one hepatoblastoma (22 years); acute lymphoblastic...
TcRαβ/CD19-cell depleted HLA-haploidentical hematopoietic stem cell transplantation (haplo-HSCT) represents a new attractive platform for children affected by acute leukemia in need of an allograft and lacking matched donor, disease recurrence being the main cause treatment failure. The use zoledronic acid to enhance TcRγδ lymphocyte function after haplo-HSCT was tested open-label, feasibility, proof-of-principle study. Forty-six high-risk underwent removal TcRαβ+ CD19+ B lymphocytes. No...
Abstract Background Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe mucocutaneous fragility disorder due to mutations in the COL7A1 gene encoding collagen VII, major constituent of anchoring fibrils essential for epithelial adhesion. RDEB characterized by unremitting blistering, chronic painful wounds fibrotic scarring that results hand foot pseudosyndactyly, microstomia, esophageal strictures. complications include nutritional compromise, anemia, failure thrive,...
Background/Objectives: This study aimed to assess the unmet needs of myelodysplas-tic neoplasm (MDS) patients and their caregivers, focusing on how these impact quality life (QoL) daily functioning. MDS predominantly affects older adults. It is often complicated by severe red blood cell transfusion-dependent anemia may require frequent hospital visits, conferring a substantial burden care-givers. Methods: A national survey was conducted between June 2022 May 2023 in 46 hematology centers...
Changes in the mitochondrial membrane potential play a key role determining cell fate. Mitochondria hyperpolarization has been found to occur after activation, e.g. lymphocytes, whereas depolarization is associated with apoptosis. The aim of this study was investigate effects an immunological stimulus, i.e. opsonized zymosan A, on human platelet mitochondria by means flow and static cytometry analyses as well biochemical methods. We that induced significant changes morphology at early time...
Summary Immune thrombocytopenia (ITP) is an autoimmune disease caused by platelet destruction mediated auto‐antibody production. It characterized a compromised immune system and alteration of the inflammatory response. Mesenchymal stromal cells (MSCs) play important role in modulating processes, exerting immune‐suppressing anti‐inflammatory properties. In ITP‐MSCs activity survival are strongly impaired. Eltrombopag (ELT) thrombopoietin receptor agonist approved chronic ITP for stimulating...
Immune thrombocytopenia (ITP) is an autoimmune disorder characterized by antibody-mediated platelet destruction, with a complex and unclear pathogenesis. The impaired immunosuppressive capacity of mesenchymal stromal cells in ITP patients (ITP-MSCs) might play role the development disease. Correcting MSC defects could represent alternative therapeutic approach for ITP. High-dose dexamethasone (HD-Dexa) mainstay regimen, although it has several side effects. We previously demonstrated...
Introduction: The mutation of the beta-globin gene that causes sickle cell disease (SCD) results in pleiotropic effects, such as hemolysis and vaso-occlusive crisis can induce inflammatory mechanisms with deleterious consequences on organism. Moreover, SCD patients display an increased susceptibility to infections. Few studies are currently available evaluate a wide immunological profile pediatric population. This study proposes evaluation immune subjects population through detailed analysis...
Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% cases are still classified as idiopathic. Herein, we describe case a 3-year-old boy with rare metabolic disorder due to SLC30A10 bi-allelic mutations characterized by hypermanganesemia, congenital neurodegeneration, also known hypermanganesemia dystonia 1 (HMNDYT1). The patient was treated iron supplementation chelation therapy CaNa2EDTA, resulting in significative...
Mesenchymal stromal cells (MSCs) represent a key component of bone marrow (BM) microenvironment and display immune-regulatory properties. We performed detailed analysis biological/functional properties BM-MSCs derived from 33 pediatric patients affected by primary immune-deficiencies (PID-MSCs): 7 Chronic Granulomatous Disease (CGD), 15 Wiskott-Aldrich Syndrome (WAS), 11 Severe Combined Immunodeficiency (SCID). Results were compared with MSCs age-matched healthy-donors (HD-MSCs). Clonogenic...