A5016242060- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Congenital Ear and Nasal Anomalies
- Pediatric health and respiratory diseases
- Esophageal and GI Pathology
- Child Nutrition and Water Access
- Dysphagia Assessment and Management
- Immunodeficiency and Autoimmune Disorders
- Pharmaceutical studies and practices
- Respiratory viral infections research
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Asthma and respiratory diseases
- Nematode management and characterization studies
- Inhalation and Respiratory Drug Delivery
- Pregnancy and Medication Impact
- Systemic Sclerosis and Related Diseases
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Lipoproteins and Cardiovascular Health
- International Relations in Latin America
- Family Support in Illness
- Body Composition Measurement Techniques
- Bacterial biofilms and quorum sensing
- Lysosomal Storage Disorders Research
- Child Nutrition and Feeding Issues
Ospedale San Carlo
2016-2025
Centro di Riferimento Oncologico della Basilicata
2019-2024
Cystic Fibrosis Research Foundation
2006-2021
Inserm
2021
Université Paris Cité
2021
Délégation Paris 5
2021
Hebrew University of Jerusalem
2021
German Center for Lung Research
2021
Medizinische Hochschule Hannover
2021
Nederlandse Cystic Fibrosis Stichting
2019
Elexacaftor/tezacaftor/ivacaftor (ETI) is the newest cystic fibrosis transmembrane conductance regulator (
<h3>Background</h3> The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack functional studies. <h3>Objectives</h3> To describe genotype–phenotype correlation and results either vitro ex vivo studies performed on nasal epithelial cells (NEC) a cohort patients with CF carrying <i>cystic transmembrane conductance regulator</i> (<i>CFTR</i>) alleles. <h3>Methods</h3> We studied 70 homozygous, compound heterozygous or <i>CFTR</i> mutations:...
Italian cystic fibrosis registry (ICFR) collects data from (CF) patients through the collaboration with CF referral and support Centres (Italian law 548/93). ICFR contributes: • to analysis of medium long term clinical epidemiological trends disease; identification main health care needs at regional national level contribute Health Care programmes distribution resources; comparison international ones. This latter is based on European and, due COVID-19 pandemic emergency, important global...
ABSTRACT Background Notwithstanding guidance from the European Cystic Fibrosis (CF) Society (ECFS) neonatal screening (NBS) working group, significant variation persists in evaluation and management of Screen Positive, Inconclusive Diagnosis (CFSPID) subjects, leaving many aspects care under debate. This study reports results a national survey investigating treatment approaches pre‐school CFSPIDs Italy. Methods In February 2024, comprehensive questionnaire was distributed to all Italian CF...
Background: Cystic fibrosis (CF) is characterized by chronic neutrophilic inflammation in the airways. Elexacaftor/tezacaftor/ivacaftor (ETI) therapy has demonstrably improved clinical outcomes and quality of life people with CF (pwCF), but its effects on systemic inflammatory parameters remain unclear. Objective: To evaluate impact ETI children adolescents CF. Design: Retrospective, dual-center observational, propensity score-matching study pediatric pwCF ETI. Methods: PwCF aged ⩽ 18 years...
A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) the same CFTR genotype and between siblings CF.We investigated all aspects a cohort of 101 pairs CF (including 6 triplets) followed since diagnosis.Severe lung disease had 22.2% concordance sib-pairs, occurred early FEV1% at 12 years predictive severity adulthood. Similarly, liver (median: 15 years) showed 27.8% sib-pairs suggesting scarce contribution genetic factors; fact, only 2/15 discordant deficiency...
Background: Over the past decades, efforts have been made to improve nutritional well-being in people with cystic fibrosis (pwCF). Due correlation observed between indices and lung function, prevailing recommendations consistently advocate for BMI percentile goals at or above 50th pwCF. Recent global trends show a notable increase overweight obese statuses among This study aims explore status of Italian Methods: Data from CF Patient’s Registry were analysed assess proportion individuals...
Earlier analysis of the Italian population showed patterns genetic differentiation that were interpreted as being result settlements going back to pre-Roman times. DNA disease mutations may be a powerful tool in further testing this hypothesis since diseased individuals can detect variants too rare resolved normal individuals. We present data on relative frequencies 60 cystic fibrosis (CF) Italy and geographical distribution 12 most frequent CF screened 3492 chromosomes originating 13...
On behalf of SIFC working group for the revision Consensus document about genetic analysis in cystic fibrosis.pathogen detection, point-of-care (POC) testing and clinical isolate identification with MALDI-TOF MS.Despite advent cutting edge molecular-based (real time PCR, 16S rRNA sequencing, next-generation sequencing) protein-based microbial tools, there is an enormous need to continue culture-based assess susceptibility all antimicrobials identify pathogens mutations that may escape...
The new CFTR modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta) was approved by the FDA in October 2019 for treatment of Cystic Fibrosis patients 6 years age or older who have at least one F508del mutation allele and a minimal-function another other allele. However, there is group patients, addition to those with rare mutations, which despite presence allele, it not possible identify any To date, these are excluded from Trikafta Italy, where CF carrying F508del/unknown...
We evaluated the effectiveness and safety of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) in three subjects carrying Phe508del/unknown CFTR genotype. An ex vivo analysis on nasal epithelial cells (NEC) indicated a significant improvement gating activity after treatment. Three patients were enrolled an ELX/TEZ/IVA managed-access program, including with highest percent predicted Forced Expiratory Volume 1st second (ppFEV1) < 40 preceding 3 months. Data collected at baseline 8, 12 24 weeks...
During a multicentric study conducted in Southern Italy, we studied five sets of cystic fibrosis siblings bearing strongly discordant liver phenotype, three with genotype ΔF508/R553X, one ΔF508/unknown, and unknown/unknown. The each set were raised the same family environment, there no interpair differences nutritional state or therapy compliance. All had pancreatic insufficiency moderate respiratory expression. One sibling was free involvement, other severe Other causes disease (viral,...