A5088144638- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Lysosomal Storage Disorders Research
- Erythrocyte Function and Pathophysiology
- Blood groups and transfusion
- Erythropoietin and Anemia Treatment
- COVID-19 Clinical Research Studies
- Cellular transport and secretion
- Prenatal Screening and Diagnostics
- Neonatal Health and Biochemistry
- Porphyrin Metabolism and Disorders
- Liver Disease Diagnosis and Treatment
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Trypanosoma species research and implications
- RNA modifications and cancer
- Acute Myeloid Leukemia Research
- Complement system in diseases
- Glycosylation and Glycoproteins Research
- COVID-19 and healthcare impacts
- Autoimmune and Inflammatory Disorders Research
- Tuberculosis Research and Epidemiology
- Studies on Chitinases and Chitosanases
- Hepatitis B Virus Studies
- Metabolism and Genetic Disorders
- Pancreatitis Pathology and Treatment
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2016-2025
University of Milan
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2021
Vita-Salute San Raffaele University
2018-2021
University Orthopedics Center
2021
Institute for Transfusion Medicine
2021
Ospedale Maggiore
2016-2020
Academic Medical Center
2018
University of Amsterdam
2018
Odense University Hospital
2016
Background Patients with β thalassemia intermedia can have substantial iron overload, irrespectively of their transfusion status, secondary to increased intestinal absorption. This study evaluates whether overload in patients is associated morbidity.Design and Methods was a cross-sectional 168 treated at two centers Lebanon Italy. Data on demographics, splenectomy presence co-morbidities were retrieved. Laboratory values serum ferritin, fetal total hemoglobin levels, as well platelet...
Patients with pre-existent chronic morbidities are likely to be more severely affected by SARS-Cov2 infection, but no data available regarding Thalassemic Syndromes (TS). Note, TS and hemoglobin variants represent, according WHO, one of the most frequent causes anemia, affecting than 7% world population.1 classified in either transfusion-dependent thalassemia (TDT) or non-transfusion-dependent (NTDT). Infectious complications, mainly from bacteria, constitute a common cause mortality...
Rapamycin alleviates β-thalassemia by stimulating ULK1-dependent clearance of toxic free α-globin.
A small but significant reduction in left ventricular (LV) mass after 18 months of migalastat treatment has been reported Fabry disease (FD). This study aimed to assess the effect on FD cardiac involvement, combining LV morphology and tissue characterisation by magnetic resonance (CMR) with cardiopulmonary exercise testing (CPET).Sixteen treatment-naïve patients (4 women, 46.4±16.2 years) involvement (reduced T1 values CMR and/or hypertrophy) underwent ECG, echocardiogram, troponin T...
Metabolic requirements vary during development, and our understanding of how metabolic activity influences cell specialization is incomplete. Here, we describe a switch from glutamine catabolism to synthesis required for erythroid maturation. Glutamine synthetase (GS), one the oldest functioning genes in evolution, activated maturation detoxify ammonium generated heme biosynthesis, which up-regulated support hemoglobin production. Loss GS mouse precursors caused accumulation oxidative...
Abstract Gaucher disease ( GD ) is the most common lysosomal disorder resulting from deficient activity of β‐glucosidase enzyme that causes accumulation glucosylceramide in macrophage–monocyte system. Notably, because non‐specific symptoms and a lack awareness, patients with experience long diagnostic delays. The aim this study was to apply algorithm identify type 1 among adults subjects referred Italian haematology outpatient units splenomegaly and/or thrombocytopenia and, eventually,...
In heart failure (HF) iron deficiency (ID) is frequently observed and represents a major mortality risk factor. Purpose of this study was to evaluate the correlation between ID in cohort 661 consecutive patients hospitalized for HF worsening.Patients were grouped: (i)according presence(+)/absence(-) anaemia (A) defined following World Health Organization (WHO) European Society Cardiology (ESC)-American College Cardiology/American Heart Association/HF society America (ACC/AHA/HFSA)...
To the Editor: The outbreak of Coronavirus Disease 2019 (COVID-19) caused by novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has led to a global health emergency.1 Compared general population, patients with hemoglobin disorders such as sickle cell disease (SCD) or thalassemia are expected be more severely affected COVID-19 due their preexisting chronic morbidities.2 Centers for Control and Prevention does not report any specific indications hemoglobinopathies. However, it...
In patients affected by Acute Respiratory Distress Syndrome (ARDS), Chronic Obstructive Pulmonary Disease (COPD) and Coronavirus 2019 (COVID-19), unclear mechanisms negatively interfere with the hematopoietic response to hypoxia. Although stimulated physiological hypoxia, pulmonary hypoxic usually develop anemia, which may ultimately complicate outcome. To characterize this non-adaptive response, we dissected interplay among redox state, iron regulation, inflammation in challenged either...
The epidemiology and prognosis of chronic kidney disease (CKD) differ by sex. We aimed to compare symptom prevalence the clinical state in women men ≥65 years age with advanced CKD receiving routine nephrology care.The European QUALity study on treatment (EQUAL) follows patients from six countries whose estimated glomerular filtration rate (eGFR) dropped ≤20 mL/min/1.73 m2 for first time during last 6 months. Dialysis Symptom Index was used assess severity 33 uraemic symptoms. Data at...