A5066181473- Cystic Fibrosis Research Advances
- Tracheal and airway disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- BRCA gene mutations in cancer
- MicroRNA in disease regulation
- Prenatal Screening and Diagnostics
- Circular RNAs in diseases
- RNA modifications and cancer
- Heavy Metal Exposure and Toxicity
- Carcinogens and Genotoxicity Assessment
- Vibrio bacteria research studies
- Enterobacteriaceae and Cronobacter Research
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- Chronic Disease Management Strategies
- Effects and risks of endocrine disrupting chemicals
- Biomedical Text Mining and Ontologies
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Respiratory viral infections research
- Cancer-related molecular mechanisms research
- Arsenic contamination and mitigation
- Antibiotic Resistance in Bacteria
- Hemoglobinopathies and Related Disorders
Istituto Superiore di Sanità
2007-2020
Policlinico Umberto I
2008
Liver cancers in children are rare representing only 1.1% of malignancies, with an annual incidence rate 1.5 cases per million. Hepatoblastoma and hepatocellular carcinomas the most common malignancies liver occurring young people aged 15 years or younger. Molecular basis both tumors still unclear, markers (i.e., CTNNB1, APC, IGF-2) not always useful characterization sporadic forms; this respect, microRNA recently associated carcinogenesis could play a pivotal role their onset. CTNNB1 APC...
The Italian External Quality Assessment scheme for fragile X syndrome started in 2001 as an activity funded by the National Health System and coordinated Institute of Public Health. aim this work is to present data 5 years (2001--2004 2006) survey. was designed cover following points: (a) genotyping (b) interpretation reporting results. Overall, covered about 65% all public laboratories. average results 91.6%, with overall success rate 76%. diagnostic errors observed on 5%. Inaccuracy sizing...
Diagnostic testing in cystic fibrosis (CF) is based on the sweat chloride test (SCT) context of appropriate signs and symptoms disease results gene mutation analysis. In 2014 Istituto Superiore di Sanità (ISS) established a pilot Italian external quality assessment program for CF (Italian EQA-SCT). 2015 this activity was recognized as third party service carried out by ISS. The aim paper to compare 2016 experiences.The scheme prospective; enrollment voluntary payment fee required....
Abstract : The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis started in 2001; public laboratories distributed throughout Italy participated on a voluntary basis. Public Health Institute (Istituto Superiore di Sanità) sent six validated DNA samples to participating laboratories: technical and clinical information was provided each sample. Laboratories were required analyse all samples. For sample the had provide results (including raw data) report of...
The Italian scheme of External Quality Assessment for beta-thalassemia started in 2001 as part a project twice funded by the Ministry Health and coordinated Istituto Superiore di Sanità. To date, five trials have been performed (2001-2004 2006). aim is to help public laboratories improving reaching high standard quality when performing molecular test. Many took 5-year project, their participation was constant during whole period. aims this paper are describe genotyping reporting results well...
Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC). 2009 this activity is an institutional participation open to both public private laboratories. Seven rounds have been performed until now eighth in progress. Laboratories receive 4 DNA samples with mock clinical indications. They...
<i>Background:</i> The Italian external quality assessment scheme in classical cytogenetics was started 2001 as an activity funded by the National Health System and coordinated Public Institute of Health. <i>Objectives:</i> aim our work is to present data from first 4 years activity, 2001–2004. <i>Methods:</i> public laboratories were enrolled on a voluntary basis, this nationwide program covered prenatal, postnatal oncological diagnosis. annual...
(1) Background: Diagnostic testing for cystic fibrosis (CF) is based on a sweat chloride test (SCT) considering the appropriate signs and symptoms of disease results gene mutation analysis. In 2014, Istituto Superiore di Sanità (ISS) established pilot Italian external quality assessment program CF SCT (Italian EQA-SCT), which now third party service carried out by ISS. (2) Methods: The ongoing scheme prospective, enrollment voluntary, payment fee required. Results are shared through...
The Italian External Quality Assessment Program for CF Sweat Chloride Test: Results of the 2015 Round Marco Salvatore, Giovanna Floridia, Annalisa Amato, Federica Censi, Claudio Carta, Maria Chiara de Stefano, Gianluca Ferrari, Fabrizio Tosto, Ettore Capoluongo, Ubaldo Caruso, Giuseppe Castaldo, Natalia Cirilli, Carlo Corbetta, Rita Padoan, Valeria Raia, Domenica Taruscio Abstract Background: chloride test is gold standard cystic fibrosis (CF) diagnosis. In 2014 Istituto Superiore di Sanità...
Familial adenomatous polyposis is a rare autosomal dominant inherited disease (incidence, 1/8000). More than 90% of families affected by familial have mutation in the tumor suppressor gene coli (APC). Mutations this are characterized 100% penetrance, although there variation phenotypic expression disease. According to 2004 survey Italian Human Genetic Society, about 264 APC molecular genetic tests were performed laboratories per year. The External Quality Assessment (IEQA), financially...
Escherichia coli producing ESBL are a major problem in the many different hospitals worldwide causing outbreaks as well sporadic infections. A novel chromogenic agar medium (ChromID bioMèrieux, Marcy L’Etoile, France) was tested directly on total of 162 clinical samples and plated parallel to common media including Mac Conkey (bioMèrieux, France). Colonies presenting morphologic aspect growing were identified for susceptibility by VITEK 2 using GN-cards AST-N013 cards (bioMérieux,...
Italian External Quality Assessment (IEQA) Program in Cytogenetics, established 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined adopted. this paper, we present data from first 4 years of activity (2013-2016) following introduction criteria.The enrollment is voluntary, fee-based open to public private laboratories. The scheme annual retrospective; a national panel experts assess technical,...