A5059243601- 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
- Erythropoietin and Anemia Treatment
- COVID-19 Clinical Research Studies
- CRISPR and Genetic Engineering
- Parvovirus B19 Infection Studies
- Virus-based gene therapy research
- Neurological Complications and Syndromes
- Blood disorders and treatments
- Hepatitis B Virus Studies
- Fetal and Pediatric Neurological Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Advanced Neuroimaging Techniques and Applications
- RNA regulation and disease
- Cancer, Hypoxia, and Metabolism
- Hepatitis C virus research
- COVID-19 Impact on Reproduction
- Bone and Joint Diseases
- Dermatological and COVID-19 studies
- Folate and B Vitamins Research
- Trypanosoma species research and implications
University of Campania "Luigi Vanvitelli"
2016-2025
Azienda Ospedaliera Universitaria Università degli Studi della Campania Luigi Vanvitelli
2021-2024
University of Naples Federico II
2016-2018
Iron overload in β-thalassemia major (TM) typically results iron-induced cardiomyopathy, liver disease, and endocrine complications. We examined the incidence progression of disorders (hypothyroidism, diabetes, hypoparathyroidism, hypogonadism), growth pubertal delay, bone metabolism disease during long-term deferasirox chelation therapy a real clinical practice setting. report multicenter retrospective cohort study 86 transfusion-dependent patients with TM treated once daily for median...
Progression of liver fibrosis in patients with hemoglobinopathies is strongly related to the severity iron overload and presence chronic hepatitis C virus (HCV) infection. Effective chelation therapy HCV infection eradication may prevent complications. The European Association for Study Liver guidelines recommend interferon-free regimens treatment hemoglobinopathies. However, data regarding use direct-acting antiviral drugs (DAAs) this patient population are few. This observational study...
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...
Mutations in VHL, which encodes von Hippel-Lindau tumor suppressor (VHL), are associated with divergent diseases. We describe a patient marked erythrocytosis and prominent mitochondrial alterations severe germline VHL deficiency due to homozygosity for novel synonymous mutation (c.222C→A, p.V74V). The condition is characterized by early systemic onset differs from Chuvash polycythemia (c.598C→T) that it strongly reduced growth rate, persistent hypoglycemia, limited exercise capacity. report...
Multisystem iron poisoning is a major concern for long-term beta-thalassemia management. Quantitative MRI-based techniques routinely show overload in heart, liver, endocrine glands and kidneys. However, data on the brain are conflicting monitoring of content still matter debate. This 3T-MRI study applied well validated high-resolution whole-brain quantitative MRI assessment 47 transfusion-dependent (mean-age: 36.9 ± 10.3 years, 63% females), 23 non-transfusion dependent 29.2 11.7 56%...
Transfusion-dependent patients typically develop iron-induced cardiomyopathy, liver disease, and endocrine complications. We aimed to estimate the incidence of disorders in transfusiondependent thalassemia (TDT) during long-term iron-chelation therapy with deferasirox (DFX). developed a multi-center follow-up study 426 TDT treated once-daily DFX for median duration 8 years, up 18.5 years. At baseline, 118, 121, 187 had 0, 1, or ≥2 diseases respectively. 104 additional were follow-up. The...
Summary Cognitive involvement in beta‐thalassaemia is strikingly controversial and poorly studied adulthood. This multicentre prospective study investigated 74 adult neurologically‐asymptomatic patients (mean‐age 34·5 ± 10·3 years; 53 transfusion‐dependent [TDT], 21 non‐transfusion dependent [NTDT]) 45 healthy volunteers 33·9 10·7 years). Participants underwent testing with Wechsler Adult Intelligence Scale‐Fourth Edition (WAIS‐IV), Brief Psychiatric Rating Scale (BPRS) multiparametric brain...
Despite numerous studies, the true scenario of hearing loss in beta-thalassaemia remains rather nebulous.
Abstract Although numerous patient‐specific co‐factors have been shown to be associated with worse outcomes in COVID‐19, the prognostic value of thalassaemic syndromes COVID‐19 patients remains poorly understood. We studied 137 a history transfusion‐dependent thalassaemia (TDT) and transfusion independent (TIT) extracted from large international cohort compared them matched no thalassaemia. The mean age included our study was 41 ± 16 years (48.9% male). Almost 81% these suffered TDT...
Background: β-thalassemia is a hereditary blood disorder resulting in ineffective erythropoiesis and anemia. Management of anemia with regular transfusions associated complications including iron overload. Here, we report long-term safety efficacy results the first clinical study luspatercept β-thalassemia, initiated 2013, enrolling adults both nontransfusion-dependent (NTD) transfusion-dependent (TD) β-thalassemia. Objectives: The objective was to data, for up 5 years treatment, 64 patients...
Luspatercept has recently been approved for the treatment of beta-thalassemia and its use in clinical practice increasing. As it is first erythroid maturation drug available this diagnosis, expertise about still limited. To address point, to promote awareness guide luspatercept beta-thalassemia, paper was developed as a consensus by experts from Italian Society Thalassemia Hemoglobinopathies (SITE). After brief presentation core features luspatercept, comprehensive set questions addressed,...
Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading unnecessary procedures irreversible complications. GAU-PED study aims assess GD prevalence in a high-risk pediatric population the presence, if any, novel clinical or biochemical markers associated with GD.DBS samples were collected tested for β-glucocerebrosidase enzyme activity 154 patients selected through algorithm proposed by Di Rocco et al. Patients showing below normal values...
Multi-factorial causes jeopardize brain integrity in β-thalassaemia. Intracranial parenchymal and vascular changes have been reported among young β-thalassaemia patients but conventional magnetic resonance imaging (MRI) findings are contradictory making early MRI angiography (MRA)/venography monitoring a matter of debate. This study prospectively investigated 75 neurologically asymptomatic (mean-age 35·2 ± 10·7 years; 52/75 transfusion-dependent; 41/75 splenectomised) using 3T scanner;...
The management of iron overload in thalassemia has changed dramatically since the implementation magnetic resonance imaging, which allows detection preclinical and prevention clinical complications. This study evaluated effect deferasirox (DFX), newest once-daily oral chelator, on cardiac function, cardiovascular events over a longer follow up "real world" setting. Longitudinal changes T2*, function parameters were assessed cohort 98 TM patients exposed to DFX for mean 6.9 years (range...