A5042973549- Hepatocellular Carcinoma Treatment and Prognosis
- MRI in cancer diagnosis
- Cardiac electrophysiology and arrhythmias
- CRISPR and Genetic Engineering
- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Helicobacter pylori-related gastroenterology studies
- Bladder and Urothelial Cancer Treatments
- Cardiovascular Effects of Exercise
- Celiac Disease Research and Management
- Hemoglobinopathies and Related Disorders
- Immunodeficiency and Autoimmune Disorders
- Liver Disease Diagnosis and Treatment
- Digestive system and related health
- Cardiomyopathy and Myosin Studies
- Urinary and Genital Oncology Studies
- Cancer Genomics and Diagnostics
- Cystic Fibrosis Research Advances
- Italian Social Issues and Migration
- COVID-19 Clinical Research Studies
- Systemic Sclerosis and Related Diseases
- Microscopic Colitis
- Genomics and Rare Diseases
- Urological Disorders and Treatments
- Prostate Cancer Diagnosis and Treatment
Ceinge Biotecnologie Avanzate (Italy)
2015-2025
University of Naples Federico II
2008-2022
Federico II University Hospital
2022
Aarhus University Hospital
2015
Naples Anesthesia & Physician Associates
2013
Ospedale Policlinico San Martino
2009
Telethon Institute Of Genetics And Medicine
2003-2004
Association for Symbolic Logic
1998-2000
Breast cancer (BC) is the most common malignancy in women, whom it reaches 20% of total neoplasia incidence. Most BCs are considered sporadic and a number factors, including familiarity, age, hormonal cycles diet, have been reported to be BC risk factors. Also gut microbiota plays role breast development. In fact, its imbalance has associated various human diseases although consequential cause-effect phenomenon never proven.The aim this work was characterize tissue microbiome 34 women...
Accurate and sensitive detection of BRCA1/2 germ-line mutations is crucial for the clinical management women affected by breast cancer, prevention and, notably, also identification at-risk healthy relatives. The most widely used methods molecular analysis are Sanger sequencing, denaturing high performance liquid chromatography (dHPLC) followed method. However, recent findings suggest that next-generation sequencing (NGS)-based approaches may be an efficient tool diagnostic purposes. In this...
The purpose of this study was to assess the value genetic testing in addition a comprehensive clinical evaluation, as part diagnostic work-up elite and/or amateur Italian athletes referred for suspicion inherited cardiac disease, following pre-participation screening programme.Between January 2009-December 2018, 5892 consecutive participants, 61 were investigated: 30 and 31 athletes. Elite selected, on basis from two experienced centres cardiovascular evaluation. Furthermore, investigated...
The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification pathogenic mutations cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon a clinical phenotype are also now included molecular testing, detection rate disease-causing variants has increased. Here, we report prevalence genetic detected by using NGS custom panel cohort 133 patients with inherited (n = 77) or 56). We identified 82 variants, which 50...
Wiskott-Aldrich syndrome (WAS) (MIM #301000) is a rare X-linked primary immunodeficiency due to mutations in the WAS gene, characterized by thrombocytopenia with small platelets, eczema, recurrent infections, and an increased incidence of autoimmunity malignancies. A wide spectrum has been identified gene responsible for broad variety clinical phenotypes. By using targeted next-generation sequencing (t-NGS), we 2-month-old boy immunological alterations 4-nucleotide deletion from position +3...
Abstract We previously profiled duodenal microbiome in active (a-), gluten-free diet (GFD) celiac disease (CD) patients and controls finding higher levels of the Proteobacterium Neisseria flavescens a-CD than other two groups. Here, we investigate oropharyngeal CD to evaluate whether this niche share microbial composition with duodenum. characterized by 16S rRNA gene sequencing 14 a-CD, 22 GFD 20 controls. Bacteroidetes, Proteobacteria Firmicutes differed significantly between three In...
Multisystem inflammatory syndrome in children (MIS-C) is a rare, severe complication of COVID-19. A better knowledge immunological, cellular, and genetic characteristics MIS-C could help understand the pathogenesis disease contribute to identifying specific diagnostic biomarkers develop targeted therapies. We studied 37 at hospital admission 24 healthy controls analyzing serum cytokines (IFN-α, IFN-β, IFN-γ, IL-6, IL-10, IL-17A, IL-12p70 TNF), lymphocyte populations by flow cytometry 386...
Breast cancer is the most common neoplasia in females worldwide, about 10% being hereditary/familial and due to DNA variants cancer-predisposing genes, such as highly penetrant BRCA1/BRCA2 genes. However, their explain up 25% of suspected cases. The availability NGS methodologies has prompted research this field. With aim improve diagnostic sensitivity molecular testing, a custom designed panel 44 including also non-coding regions 5' 3' UTR regions, was set up. Here, are reported results...
Celiac Disease (CD) is a polygenic trait, and HLA genes explain less than half of the genetic variation. Through large GWAs more 40 associated non-HLA were identified, but they give small contribution to heritability disease. The aim this study improve estimate CD risk in siblings, by adding set genes. One-hundred fifty-seven Italian families with confirmed case at least one other sib both parents recruited. Among 249 sibs, 29 developed 6 year follow-up period. All individuals typed for 10...
Cystic fibrosis (CF) is a life-limiting genetic disorder characterized by defective chloride ion transport due to mutations in the cystic transmembrane conductance regulator (CFTR) gene. Early detection through newborn screening programs significantly improves outcomes for individuals with CF enabling timely intervention. Here, we report identification of an Alu element insertion within exon 15 CFTR gene, initially overlooked standard next-generation sequencing analyses. However, using...
The purpose of this paper is to present a clinical and laboratory study family, in which 12-year-old boy was examined assess his health status before starting competitive sports. A variety instrumental tests were used evaluate the heart its functions. Using Sanger sequencing (SS), we sequenced six related genes verify suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) hypothesized at cardiac assessment and, subsequently, by next-generation (NGS)-based multi-gene panel for more...
Abstract Background: Malignant hyperthermia (MH) is a fatal autosomal dominant pharmacogenetic disorder characterized by skeletal muscle hypertonicity that causes sudden increase in body temperature after exposure to common anesthetic agents. The disease genetically heterogeneous, with mutations the gene encoding ryanodine receptor (RYR1) at 19q13.1 accounting for up 80% of cases. To date, least 42 RYR1 have been described cause MH and/or central core disease. Because huge, containing 106...
The α-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5′–3′) showing overall sequence homology >96% average CG content >60%. α-Thalassemia, the most prevalent worldwide autosomal recessive disorder, is a hereditary anemia caused variations of these in about 25% carriers. We evaluated sensitivity suitability DHPLC DG-DGGE scanning both carrying out retrospective analysis 19 variant alleles 29 genotypes. HBA2 c.1A>G, c.79G>A, c.281T>G, HBA1 allele c.475C>A were new. Three...
About 10% of all breast cancers arise from hereditary mutations that increase the risk and ovarian cancers; about 25% these are associated with BRCA1 or BRCA2 genes. The identification BRCA1/BRCA2 can enable physicians to better tailor clinical management patients; initiate preventive measures in healthy carriers. pathophysiological significance newly identified variants poses challenges for genetic counseling. We characterized a new variant discovered cancer patient during BRCA1/2 screening...
Objectives Oral salt substitutive therapy is pivotal for the survival of patients with congenital chloride diarrhea (CLD), however this unable to influence symptoms severity. Butyrate has been proposed limit severity in CLD. Unfortunately, optimal dose schedule still largely undefined. In addition, butyrate seems not be well-tolerated by all patients, some subjects reporting worsening. We investigated efficacy a step-up therapeutic approach sodium who experienced worsening or an absent...
The history of medicine abounds in cases mysterious deaths, especially by infectious diseases, which were probably unresolved because the lack knowledge and appropriate technology. aim this study was to exploit contemporary technologies try identify cause death a young boy who died from putative “infection” at end 18th century, for whom an extraordinarily well-preserved minute bone fragment available. After confirming nature sample, we used laser microdissection select most “informative”...
BRCA1 and BRCA2 are the genes most frequently associated with hereditary breast ovarian cancer (HBOC). They crucial for maintenance of genome stability, particularly in homologous recombination-mediated repair pathway DNA double-strand breaks (HR-DSBR). Widespread BRCA1/2 next-generation sequencing (NGS) screening has revealed numerous variants uncertain significance. Assessing clinical significance these is challenging, regarding management patients. Here, we report functional...
Background: A wide range of cystic fibrosis (CF)-related conditions are reported in CF carriers, but no study has explored the possibility that such subjects may be affected by transmembrane regulator-related disorders (CFTR-RD). No data available so far on occurrence CFTR-RD among carriers. Methods: We studied 706 carriers—first- and second-degree relatives patients carried parental mutation; were divided two groups: a first group (353 subjects, A) performed at only analysis CFTR proband we...