A5086705579- Erythrocyte Function and Pathophysiology
- Hemoglobinopathies and Related Disorders
- Blood properties and coagulation
- Neonatal Health and Biochemistry
- Time Series Analysis and Forecasting
- Blood groups and transfusion
- Iron Metabolism and Disorders
- Redox biology and oxidative stress
- Advanced Radiotherapy Techniques
- Cancer, Hypoxia, and Metabolism
- Radiation Dose and Imaging
- Radioactivity and Radon Measurements
- Advanced Database Systems and Queries
- Data Management and Algorithms
- Erythropoietin and Anemia Treatment
- Radioactive contamination and transfer
- Blood disorders and treatments
- Spectroscopy and Chemometric Analyses
- Neuroblastoma Research and Treatments
- Sulfur Compounds in Biology
- Astronomical Observations and Instrumentation
- Pulmonary Hypertension Research and Treatments
- Hippo pathway signaling and YAP/TAZ
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale"
2025
Tecnologie Avanzate (Italy)
2016-2023
Federico II University Hospital
2014-2023
Ceinge Biotecnologie Avanzate (Italy)
2015-2020
University of Naples Federico II
2015-2020
Abstract Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond‐Blackfan anemia; hemolytic due to erythrocyte membrane defects, spherocytosis stomatocytosis; enzymatic defects. The study describes the diagnostic workflow for HA, based on development two consecutive versions targeted‐NGS panel, including 34 71 genes,...
Dehydrated hereditary stomatocytosis (DHSt) is an autosomal dominant congenital hemolytic anemia with moderate splenomegaly and often compensated hemolysis. Affected red cells are characterized by a nonspecific cation leak of the cell membrane, reflected in elevated sodium content, decreased potassium MCHC MCV, osmotic fragility. The majority symptomatic DHSt cases reported to date have been associated gain-of-function mutations mechanosensitive channel gene, PIEZO1. A recent study has...
Abstract Hereditary stomatocytoses (HSts) are a wide spectrum of hemolytic anemias in which the erythrocyte membrane cation permeability is increased. Dehydrated hereditary stomatocytosis most frequent among HSts. It caused by missense mutations PIEZO1 and KCNN4 genes. We described 123 patients enrolled our Genetic Unit from 2013 to 2017. Overall HSt subjects exhibit macrocytic mild anemia. found that mutated gene within families (47% pedigrees). In 59.1% cases localized nonpore protein...
Abstract Dehydrated hereditary stomatocytosis (DHS), or xerocytosis, is an autosomal dominant hemolytic anemia. Most patients with DHS carry mutations in the PIEZO1 gene encoding a mechanosensitive cation channel. We here demonstrate that have low levels of hepcidin and only slight increase ERFE, erythroid negative regulator hepcidin. demonstrated at physiological level, activation induced Ca 2+ influx suppression HAMP expression primary hepatocytes. In two hepatic cellular models expressing...
Abstract CXCR4 is overexpressed on the majority of haematological and solid cancers correlates with metastatic features. a potential imaging target for accuracy diagnosis, staging predictive treatment efficacy. Despite development targeting PET tracers, sensitivity specificity toward tumors modest. A new CXCR4-targeting tracer, [68Ga]Ga-R54 (PCT/EP2020/087792) specifically accumulated in CXCR4-overexpressing vivo murine models. Aim work to extend efficacy lung cancer evaluate humans. Thus,...
Isolated familial pseudohyperkalemia is a dominant red cell trait characterized by cold-induced 'passive leak' of potassium ions into plasma. The causative gene this condition ABCB6, which encodes an erythrocyte membrane ABC transporter protein bearing the Langereis blood group antigen system. In study analyzing three new families, we report first functional characterization ABCB6 mutants, including homozygous mutation V454A, heterozygous R276W, and compound mutations R276W R723Q (in trans)....
PIEZO1 is a cation channel activated by mechanical force. It plays an important physiological role in several biological processes such as cardiovascular, renal, endothelial and hematopoietic systems. Two different diseases are associated with alteration the DNA sequence of PIEZO1: (i) dehydrated hereditary stomatocytosis (DHS1, #194380), autosomal dominant hemolytic anemia caused gain-of-function mutations; (ii) lymphatic dysplasia non-immune fetal hydrops (LMPH3, #616843), recessive...
CDA type I is a rare hereditary anemia, characterized by relative reticulocytopenia, and congenital anomalies. It caused biallelic mutations in one of the two genes: (i) CDAN1, encoding Codanin-1, which implicated nucleosome assembly disassembly; (ii) C15orf41, predicted to encode divalent metal ion-dependent restriction endonuclease with yet unknown function. We described cases I, identifying novel variant, Y94S, DNA binding domain H230P mutation nuclease protein. first analyzed gene...
Abstract The erythroferrone (ERFE) is the erythroid regulator of hepatic iron metabolism by suppressing expression hepcidin. Congenital dyserythropoietic anemia type II (CDAII) an inherited hyporegenerative due to biallelic mutations in SEC23B gene. Patients with CDAII exhibit marked clinical variability, even among individuals sharing same pathogenic variants. ERFE increased and related abnormal erythropoiesis. We identified a recurrent low‐frequency variant, A260S, gene 12.5% patients...
Neuroblastoma (NBL) accounts for >7% of malignancies in patients younger than 15 years. Low- and intermediate-risk exhibit excellent or good prognosis after treatment, whereas high-risk (HR) patients, the estimated 5-year survival rates is still <40%. The ability to stratify HR that will not respond standard treatment strategies critical informed decisions. In this study, we have generated a specific kinome gene signature, named Kinome-27, which able identify subset HR-NBL tumors, ultra-HR...
Astronomy is undergoing a methodological revolution triggered by an unprecedented wealth of complex and accurate data. The new panchromatic, synoptic sky surveys require advanced tools for discovering patterns trends hidden behind data which are both high dimensionality. We present DAMEWARE (DAta Mining & Exploration Web Application REsource): general purpose, web-based, distributed mining environment developed the exploration large sets, finely tuned astronomical applications. By means...
Congenital dyserythropoietic anemia type II (CDA II) is a hypo-productive defined by ineffective erythropoiesis through maturation arrest of erythroid precursors. CDA an autosomal recessive disorder due to loss-of-function mutations in SEC23B. Currently, management patients with based on transfusions, splenectomy, or hematopoietic stem-cell transplantation. Several studies have highlighted benefits ACE-011 (sotatercept) treatment erythropoiesis, which acts as ligand trap against growth...
A 3-year-old Cambodian male child from consanguineous parents (Figure 1a) presented to neurology with non-verbal autism and intractable seizures. The seizures as head nods, drop attacks, or focal dyscognitive events, they occurred multiple times each day. electroencephalogram demonstrated aggressive multifocal discharges a background epileptic encephalopathy. 1A) Investigations using magnetic resonance imaging, lumbar puncture, standard metabolic testing did not reveal any abnormalities....
Drinking water, in addition to the best-known chemical and biological agents, contains radionuclides of both natural artificial origin, which can contribute significantly overall effective dose received by population. The Italian Decree Law 28/2016, implementing 2013/51/EURATOM Directive, establishes activities for risk management parameter values different radionuclide activity concentrations. In institutions involved, National Inspectorate Nuclear Safety Radiation Protection (ISIN)...
Abstract Neuroblastoma (NB) is the most common extracranial neoplasm in children. The overall outcome for high‐risk NB patients still unacceptable, therefore, it critical to deeply understand molecular mechanisms associated with NB, which turn can be utilized developing drugs towards treatment of NB. Protein kinases (TKs) play an essential role regulation cell survival and proliferation. Different kinases, such as anaplastic lymphoma kinase (ALK), Aurora kinase, RET receptor tyrosine are...
Drinking water, in addition to the best-known chemical and biological agents, contains radionuclides of both natural artificial origin, which can contribute significantly overall effective dose received by population. The Italian Decree Law 28/2016, implementing 2013/51/EURATOM Directive, establishes activities for risk management parameter values different activity concentrations. In institutions involved, annually National Inspectorate Nuclear Safety Radiation Protection (ISIN), publishes...
Abstract Following the 2013/59/EURATOM Directive, Italian 101/2020 Decree Law lowered annual limit on equivalent dose to eye lens from 150 20 mSv for exposed workers, in order risk of radiation-induced cataract. Such a drastic reduction makes it very important perform accurate monitoring medical staff that works with ionizing radiation as interventional radiologists and cardiologists. The standard occupational dosimetry consists into Hp(3) calibrated dosimeters placed physicians glasses,...