A5006539823- Platelet Disorders and Treatments
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Complement system in diseases
- Hemoglobinopathies and Related Disorders
- Hemophilia Treatment and Research
- Blood groups and transfusion
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Cardiac Imaging and Diagnostics
- Carbohydrate Chemistry and Synthesis
- Blood Coagulation and Thrombosis Mechanisms
- Iron Metabolism and Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Heparin-Induced Thrombocytopenia and Thrombosis
- Trypanosoma species research and implications
- Renal Diseases and Glomerulopathies
- Studies on Chitinases and Chitosanases
- Infectious Aortic and Vascular Conditions
- Aortic aneurysm repair treatments
- Autoimmune and Inflammatory Disorders Research
- Glycosylation and Glycoproteins Research
- Advanced MRI Techniques and Applications
- Hemostasis and retained surgical items
- Acute Myeloid Leukemia Research
- Heart Rate Variability and Autonomic Control
Policlinico Universitario di Catania
2020-2025
Presidio Ospedaliero
2024
Azienda Ospedaliero-Universitaria Policlinico - Vittorio Emanuele
2018-2023
University of Catania
1996-2021
Ferrarotto Hospital
2008-2020
University of Milan
1993-1998
From 20 to 50% of patients who survive an acute episode the acquired form thrombotic thrombocytopenic purpura relapse but clinical and laboratory markers recurrence are not well established.In 109 enrolled in international registry we evaluated, frame a retrospective cohort study, predictive role metalloprotease ADAMTS13 as measured plasma during remission. Anti-ADAMTS13 antibodies von Willebrand factor were also evaluated smaller number same patients.Median values activity antigen...
Abstract This study aimed to determine the feasibility, reproducibility, and reliability of multiecho T * 2 Magnetic resonance imaging technique at 3 for myocardial liver iron burden quantification relationship between values 1.5 T. Thirty‐eight transfusion‐dependent patients 20 healthy subjects were studied. Cardiac segmental global calculated after developing a correction map compensate artifactual variations. The hepatic value was determined over region interest. intraoperator...
Immune-mediated thrombotic thrombocytopenic purpura following administration of Pfizer-BioNTech COVID-19 vaccineCoronavirus disease 2019 (COVID-19) is an infectious caused by a recently discovered coronavirus called severe acute respiratory syndrome 2 (SARS-CoV-2).The affected well over hundred million people all the world and mortality rates were greater in elderly population.The quick development safe effective vaccines represents important step management ongoing pandemic and, so far,...
Background: Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Acid Sphingomyelinase Deficiency, which acid sphingomyelinase dysfunction. The possible overlap clinical presentation can cause diagnostic errors differential diagnosis. For this reason, patients with an initial suspicion of disease, we aimed to carry out parallel screening glucocerebrosidase. Methods:...
Acquired haemophilia A (AHA) is a rare and severe bleeding disorder generally associated with pregnancy or aging. Spontaneous remission prompt inhibitor eradication are described more frequently in postpartum cases. We evaluated retrospectively 15 AHA cases between 2007 2023 order to evaluate response terms of eradication. The median age at diagnosis was 31 years (range 24-38). All patients reported presentation after period 40.6 days following delivery 2-180 days). FVIII level 4.4%...
Gaucher disease is an autosomal recessive disorder caused by dysfunction of the enzyme glucocerebrosidase. The deficiency mainly due to mutations in GBA1 gene, and it responsible for accumulation glucosylceramide within lysosomes monocyte macrophage-derived cells; causing associated symptomatology. In this paper, we describe six new identified which, combination with other already documented, lead absent or reduced glucocerebrosidase activity, resulting pathological specific substrate...
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare and life-threatening disease. Vaccination has been reported to be trigger of onset relapse autoimmune diseases. We evaluated after mRNA COVID-19 vaccination 32 adult patients previously diagnosed with iTTP by means weekly monitoring complete blood count ADAMTS13 testing. Thirty received at least one dose Pfizer-BioNTech, the remaining two Moderna. A total five patients, all vaccinated had biochemical median post-vaccination...
Bone complications occur frequently in Gaucher disease (GD) and reduce the quality of life these patients. Skeletal involvement is an important indication for treatment to ameliorate symptoms risk irreversible debilitating disease. biomarkers have been used assess status response therapy a number bone disorders. Here, we examine literature evidence abnormalities turnover markers patients with type 1 GD whether they might be useful assessment GD. We found that show highly variable results...
In patients with primary immune thrombocytopenia (ITP), a short course of steroids is routinely given as first-line therapy. However, the response often transient and additional therapy usually needed. Thrombopoietin receptor agonists (TPO-RAs) are frequently used second-line therapy, although there little clinical guidance on timing their administration tapering/discontinuation drug. To provide recommendations, we Delphi technique to obtain consensus for statements regarding TPO-RAs among...
Gaucher disease (GD) is a lysosomal storage disorder. We evaluated the "real-world" effectiveness of first-line imiglucerase on long-term bone outcomes in Italian patients International Collaborative Group (ICGG) Registry.Patients treated with for ≥2 years and assessments at baseline during follow-up were selected. Data pain, crises, marrow infiltration, avascular necrosis, infarction, lytic lesions, Erlenmeyer flask deformity, fractures, mineral density, dosage evaluated.Data manifestations...
Not requested.
The therapy and management of Gaucher disease (GD) have radically changed with the use substrate reduction therapy, which eliglustat is most widely known drug, allowing it to overcome limits enzyme replacement (ERT). rarity GD limited outside clinical trials require further study its strengths weaknesses.
Gaucher disease (GD) is a rare autosomal recessive inherited disorder caused by the lysosomal enzyme acid β-glucosidase deficiency. Many patients experience critical delay in diagnosis of up to 8-10 years due its rarity and variability signs symptoms, with consultation several specialists.This prospective observational study analyzed prevalence GD 600 monoclonal gammopathy uncertain significance (MGUS) from January 2018 until February 2022.The mean age participants was 66 years, component...