45 results on '"Precone, Vincenza"'
Search Results
2. Immunophenotypical characterization of paraneoplastic neurological syndrome patients: a multicentric study
- Author
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Lorusso, Lorenzo, Precone, Vincenza, Hart, Ian K, Giometto, Bruno, Pezzani, Raffaele, Ngonga, Gaelle K, Paolacci, Stefano, Ferrari, Daniela, Ricevuti, Giovanni, Marshall, Ernie, and Bertelli, Matteo
- Published
- 2021
- Full Text
- View/download PDF
3. Quality assurance of genetic laboratories and the EBTNA practice certification, a simple standardization assurance system for a laboratory network
- Author
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Precone Vincenza, Dundar Munis, Beccari Tommaso, Turanli Eda Tahir, Cecchin Stefano, Marceddu Giuseppe, Manara Elena, and Bertelli Matteo
- Subjects
quality assurance ,iso ,ebtna quality system ,laboratory network ,genetic tests ,Biotechnology ,TP248.13-248.65 - Abstract
Analytical laboratory results greatly influence medical diagnosis, about 70% of medical decisions are based on laboratory results. Quality assurance and quality control are designed to detect and correct errors in a laboratory’s analytical process to ensure both the reliability and accuracy of test results. Unreliable performance can result in misdiagnosis and delayed treatment. Furthermore, improved quality guarantees increased productivity at a lower cost. Quality assurance programmes include internal quality control, external quality assessment, proficiency surveillance and standardization. It is necessary to try to ensure compliance with the requirements of the standards at all levels of the process. The sources of these standards are the International Standards Organization (ISO), national standards bodies, guidelines from professional organisations, accreditation bodies and governmental regulations. Laboratory networks increase the performance of laboratories in support of diagnostic screening programme. It is essential that genetic laboratories of a network have procedures underpinned by a robust quality assurance system to minimize errors and to reassure the clinicians and the patients that international standards are being met. This article provides an overview of the bases of quality assurance and its importance in genetic tests and it reports the EBTNA quality assurance system which is a clear and simple system available for access to adequate standardization of a genetic laboratory’s network.
- Published
- 2018
- Full Text
- View/download PDF
4. Genetic testing in translational ophthalmology
- Author
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Abeshi Andi, Precone Vincenza, Beccari Tommaso, Dundar Munis, Falsini Benedetto, and Bertelli Matteo
- Subjects
Biotechnology ,TP248.13-248.65 - Abstract
Inherited eye diseases are a group of conditions with genetic and phenotypic heterogeneity. Advances in ocular genetic research have provided insights into the genetic basis of many eye diseases. Genetic and technological progress is improving the management and care of patients with inherited eye diseases. Diagnostic laboratories continue to develop strategies with high specificity and sensitivity that reduce the costs and time required for genetic testing. The introduction of next generation sequencing technologies has significantly advanced the identification of new gene candidates and has expanded the scope of genetic testing. Gene therapy offers an important opportunity to target causative genetic mutations. There are clinical trials of treatments involving vector-based eye gene therapies, and a significant number of loci and genes now have a role in the diagnosis and treatment of human eye diseases. Applied genetic technology heralds the development of individualized treatments, ushering ophthalmology into the field of personalized medicine. Many therapeutic strategies have demonstrated efficacy in preclinical studies and have entered the clinical trial phase. In this paper we review the topic of genetic testing in inherited eye diseases. We provide some background information about genetic counseling and genetic testing in ophthalmology and discuss how genetic testing can be helpful to patients and families with inherited eye diseases.
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- 2017
- Full Text
- View/download PDF
5. Pharmacologically active fractions of Sideritis spp. and their use in inherited eye diseases
- Author
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Abeshi Andi, Precone Vincenza, Beccari Tommaso, Dundar Munis, Falsini Benedetto, and Bertelli Matteo
- Subjects
Biotechnology ,TP248.13-248.65 - Abstract
The main constituents of the genus Sideritis are various terpenoids, sterols, coumarins, flavonoid aglycones and glycosides. Sideritis species have been traditionally used as infusions or flavoring agents and in medicine as anti-inflammatory, antiulcer, antimicrobial, antioxidant, antispasmodic and analgesic agents. This paper includes the following sections: Introduction, Description and distribution of Sideritis spp, Pharmacological effects, Toxicity tests, Rationale for use of Sideritis spp. in ophthalmology and Conclusions. The aim is to provide a comprehensive overview on the botanical, phytochemical and pharmacological aspects of the genus Sideritis, and to establish the scientific basis of its pharmacological use. New approaches to using officinal plants have recently yielded significant results. The paper also reviews this information and provides a critical view on the options for exploiting the potential of Sideritis spp. in ophthalmology.
- Published
- 2017
- Full Text
- View/download PDF
6. Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity
- Author
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Bonetti, Gabriele, primary, Dhuli, Kristjana, additional, Ceccarini, Maria Rachele, additional, Kaftalli, Jurgen, additional, Samaja, Michele, additional, Precone, Vincenza, additional, Cecchin, Stefano, additional, Maltese, Paolo Enrico, additional, Guerri, Giulia, additional, Marceddu, Giuseppe, additional, Beccari, Tommaso, additional, Aquilanti, Barbara, additional, Velluti, Valeria, additional, Matera, Giuseppina, additional, Perrone, Marco, additional, Iaconelli, Amerigo, additional, Colombo, Francesca, additional, Greco, Francesco, additional, Raffaelli, Marco, additional, Ergoren, Mahmut Cerkez, additional, and Bertelli, Matteo, additional
- Published
- 2022
- Full Text
- View/download PDF
7. Gene variants in Eating Disorders. Focus on Anorexia Nervosa Bulimia Nervosa and Binge-eating Disorder
- Author
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Donato, Kevin, Ceccarini, Maria Rachele, Dhuli, Kristjana, Bonetti, Gabriele, Medori, Maria Chiara, Marceddu, Giuseppe, Precone, Vincenza, Xhufi, Suela, Bushati, Marsida, Bozo, Dhurata, Beccari, Tommaso, Bertelli, Matteo, Donato, Kevin, Ceccarini, Maria Rachele, Dhuli, Kristjana, Bonetti, Gabriele, Medori, Maria Chiara, Marceddu, Giuseppe, Precone, Vincenza, Xhufi, Suela, Bushati, Marsida, Bozo, Dhurata, Beccari, Tommaso, and Bertelli, Matteo
- Abstract
Eating disorders such as anorexia nervosa, bulimia nervosa and binge-eating disorder, have a deep social impact, concluding with death in cases of severe disease. Eating disorders affect up to 5% of the population in the industrialized countries, but probably the phenomenon is under-detection and under-diagnosis. Eating disorders are multifactorial disorders, resulting from the interaction between environmental triggers, psychological factors, but there is also a strong genetic component. In fact, genetic factors predispose for approximately 33-84% to anorexia nervosa, 28-83% to bulimia nervosa, and 41-57% to binge eating disorder. Twins and family studies have provided an unassailable proof on the heritability of these disorders. Other types of genetic studies, including genome-wide association studies, whole genome sequencing and linkage analysis, allowed to identify the genes and their variants associated with eating disorders and moreover global collaborative efforts have led to delineate the etiology of these disorders. Next Generation Sequencing technologies can be considered as an ideal diagnostic approach to identify not only the common variants, such as single nucleotide polymorphism, but also rare variants. Here we summarize the present knowledge on the molecular etiology and genetic determinants of eating disorders including serotonergic genes, dopaminergic genes, opioid genes, appetite regulation genes, endocannabinoid genes and vitamin D3.
- Published
- 2022
8. A simultaneous next-generation sequencing approach to the diagnosis of couple infertility
- Author
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PRECONE, Vincenza, primary, NOTARANGELO, Angelantonio, additional, MARCEDDU, Giuseppe, additional, D’AGRUMA, Leonardo, additional, CANNARELLA, Rossella, additional, CALOGERO, Aldo E., additional, CRISTOFOLI, Francesca, additional, GUERRI, Giulia, additional, PAOLACCI, Stefano, additional, CASTORI, Marco, additional, and BERTELLI, Matteo, additional
- Published
- 2022
- Full Text
- View/download PDF
9. A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy
- Author
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Michelini, Sandro, primary, Herbst, Karen L., additional, Precone, Vincenza, additional, Manara, Elena, additional, Marceddu, Giuseppe, additional, Dautaj, Astrit, additional, Maltese, Paolo Enrico, additional, Paolacci, Stefano, additional, Ceccarini, Maria Rachele, additional, Beccari, Tommaso, additional, Sorrentino, Elisa, additional, Aquilanti, Barbara, additional, Velluti, Valeria, additional, Matera, Giuseppina, additional, Gagliardi, Lucilla, additional, Miggiano, Giacinto Abele Donato, additional, and Bertelli, Matteo, additional
- Published
- 2022
- Full Text
- View/download PDF
10. A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa
- Author
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Ceccarini, Maria Rachele, primary, Precone, Vincenza, additional, Manara, Elena, additional, Paolacci, Stefano, additional, Maltese, Paolo Enrico, additional, Benfatti, Valentina, additional, Dhuli, Kristjana, additional, Donato, Kevin, additional, Guerri, Giulia, additional, Marceddu, Giuseppe, additional, Chiurazzi, Pietro, additional, Dalla Ragione, Laura, additional, Beccari, Tommaso, additional, and Bertelli, Matteo, additional
- Published
- 2021
- Full Text
- View/download PDF
11. Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel
- Author
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Precone, Vincenza, primary, Cannarella, Rossella, additional, Paolacci, Stefano, additional, Busetto, Gian Maria, additional, Beccari, Tommaso, additional, Stuppia, Liborio, additional, Tonini, Gerolamo, additional, Zulian, Alessandra, additional, Marceddu, Giuseppe, additional, Calogero, Aldo E., additional, and Bertelli, Matteo, additional
- Published
- 2021
- Full Text
- View/download PDF
12. Different changes in mitochondrial apoptotic pathway in lymphocytes and granulocytes in cirrhotic patients with sepsis
- Author
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Precone, Vincenza, Stornaiuolo, Gianfranca, Amato, Annamaria, Brancaccio, Giuseppina, Nardiello, Salvatore, and Gaeta, Giovanni B.
- Published
- 2013
- Full Text
- View/download PDF
13. Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing
- Author
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Cannarella, Rossella, primary, Precone, Vincenza, additional, Guerri, Giulia, additional, Busetto, Gian Maria, additional, Di Renzo, Gian Carlo, additional, Gerli, Sandro, additional, Manara, Elena, additional, Dautaj, Astrit, additional, Bertelli, Matteo, additional, and Calogero, Aldo Eugenio, additional
- Published
- 2020
- Full Text
- View/download PDF
14. Paraneoplastic Neurological Syndromes: Study of Prevalence in a Province of the Lombardy Region, Italy
- Author
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Lorusso, Lorenzo, primary, Precone, Vincenza, additional, Ferrari, Daniela, additional, Ngonga, Gaelle K., additional, Russo, Antonio Giampiero, additional, Paolacci, Stefano, additional, and Bertelli, Matteo, additional
- Published
- 2020
- Full Text
- View/download PDF
15. The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing
- Author
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D’Argenio, Valeria, primary, Torino, Marielva, additional, Precone, Vincenza, additional, Casaburi, Giorgio, additional, Esposito, Maria, additional, Iaffaldano, Laura, additional, Malapelle, Umberto, additional, Troncone, Giancarlo, additional, Coto, Iolanda, additional, Cavalcanti, Paolina, additional, De Rosa, Gaetano, additional, Salvatore, Francesco, additional, and Sacchetti, Lucia, additional
- Published
- 2017
- Full Text
- View/download PDF
16. Corrigendum: No Change in the Mucosal Gut Microbiome is Associated with Celiac Disease-Specific Microbiome Alteration in Adult Patients
- Author
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D'Argenio, Valeria, primary, Casaburi, Giorgio, additional, Precone, Vincenza, additional, Pagliuca, Chiara, additional, Colicchio, Roberta, additional, Sarnataro, Daniela, additional, Discepolo, Valentina, additional, Kim, Sangman M., additional, Russo, Ilaria, additional, Del Vecchio Blanco, Giovanna, additional, Horner, David S., additional, Chiara, Matteo, additional, Pesole, Graziano, additional, Salvatore, Paola, additional, Monteleone, Giovanni, additional, Ciacci, Carolina, additional, Caporaso, Gregory J., additional, Jabrì, Bana, additional, Salvatore, Francesco, additional, and Sacchetti, Lucia, additional
- Published
- 2017
- Full Text
- View/download PDF
17. No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients
- Author
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D'Argenio, Valeria, primary, Casaburi, Giorgio, additional, Precone, Vincenza, additional, Pagliuca, Chiara, additional, Colicchio, Roberta, additional, Sarnataro, Daniela, additional, Discepolo, Valentina, additional, Kim, Sangman M, additional, Russo, Ilaria, additional, Del Vecchio Blanco, Giovanna, additional, Horner, David S, additional, Chiara, Matteo, additional, Pesole, Graziano, additional, Salvatore, Paola, additional, Monteleone, Giovanni, additional, Ciacci, Carolina, additional, Caporaso, Gregory J, additional, Jabrì, Bana, additional, Salvatore, Francesco, additional, and Sacchetti, Lucia, additional
- Published
- 2016
- Full Text
- View/download PDF
18. Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives
- Author
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Precone, Vincenza, Del Monaco, Valentina, Esposito, Maria Valeria, De Palma, Fatima Domenica Elisa, Ruocco, Anna, Salvatore, Francesco, and D’Argenio, Valeria
- Subjects
Article Subject - Abstract
Next-generation sequencing (NGS) technologies have greatly impacted on every field of molecular research mainly because they reduce costs and increase throughput of DNA sequencing. These features, together with the technology’s flexibility, have opened the way to a variety of applications including the study of the molecular basis of human diseases. Several analytical approaches have been developed to selectively enrich regions of interest from the whole genome in order to identify germinal and/or somatic sequence variants and to study DNA methylation. These approaches are now widely used in research, and they are already being used in routine molecular diagnostics. However, some issues are still controversial, namely, standardization of methods, data analysis and storage, and ethical aspects. Besides providing an overview of the NGS-based approaches most frequently used to study the molecular basis of human diseases at DNA level, we discuss the principal challenges and applications of NGS in the field of human genomics.
- Published
- 2015
- Full Text
- View/download PDF
19. Metagenomics Reveals Dysbiosis and a Potentially Pathogenic N. flavescens Strain in Duodenum of Adult Celiac Patients
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D'Argenio, Valeria, primary, Casaburi, Giorgio, additional, Precone, Vincenza, additional, Pagliuca, Chiara, additional, Colicchio, Roberta, additional, Sarnataro, Daniela, additional, Discepolo, Valentina, additional, Kim, Sangman M, additional, Russo, Ilaria, additional, Del Vecchio Blanco, Giovanna, additional, Horner, David S, additional, Chiara, Matteo, additional, Pesole, Graziano, additional, Salvatore, Paola, additional, Monteleone, Giovanni, additional, Ciacci, Carolina, additional, Caporaso, Gregory J, additional, Jabrì, Bana, additional, Salvatore, Francesco, additional, and Sacchetti, Lucia, additional
- Published
- 2016
- Full Text
- View/download PDF
20. The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches
- Author
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D'Argenio, Valeria, primary, Esposito, Maria Valeria, additional, Telese, Antonella, additional, Precone, Vincenza, additional, Starnone, Flavio, additional, Nunziato, Marcella, additional, Cantiello, Piergiuseppe, additional, Iorio, Mariangela, additional, Evangelista, Eloisa, additional, D'Aiuto, Massimiliano, additional, Calabrese, Alessandra, additional, Frisso, Giulia, additional, D'Aiuto, Giuseppe, additional, and Salvatore, Francesco, additional
- Published
- 2015
- Full Text
- View/download PDF
21. An Information Filtering System for e-Health: the Health-on-Net
- Author
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Capuano, Nicola, Gaeta, Matteo, Precone, Vincenza, and Scherillo, M.
- Published
- 2010
22. The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing.
- Author
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D'Argenio, Valeria, Torino, Marielva, Precone, Vincenza, Casaburi, Giorgio, Esposito, Maria Valeria, Iaffaldano, Laura, Malapelle, Umberto, Troncone, Giancarlo, Coto, Iolanda, Cavalcanti, Paolina, De Rosa, Gaetano, Salvatore, Francesco, and Sacchetti, Lucia
- Subjects
COMMUNICABLE diseases ,PSEUDOMONADACEAE ,PROTEOBACTERIA ,MICRODISSECTION ,RIBOSOMAL RNA - Abstract
The history of medicine abounds in cases of mysterious deaths, especially by infectious diseases, which were probably unresolved because of the lack of knowledge and of appropriate technology. The aim of this study was to exploit contemporary technologies to try to identify the cause of death of a young boy who died from a putative "infection" at the end of the 18th century, and for whom an extraordinarily well-preserved minute bone fragment was available. After confirming the nature of the sample, we used laser microdissection to select the most "informative" area to be examined. Tissue genotyping indicated male gender, thereby confirming the notary's report. 16S ribosomal RNA sequencing showed that Proteobacteria and Actinobacteria were more abundant than Firmicutes and Bacteroidetes, and that Pseudomonas was the most abundant bacterial genus in the Pseudomonadaceae family. These data suggest that the patient most likely died from Pseudomonas osteomyelitis. This case is an example of how new technological approaches, like laser microdissection and next-generation sequencing, can resolve ancient cases of uncertain etiopathology. Lastly, medical samples may contain a wealth of information that may not be accessible until more sophisticated technology becomes available. Therefore, one may envisage the possibility of systematically storing medical samples for evaluation by future generations. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
23. DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies
- Author
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D’Argenio, Valeria, primary, Frisso, Giulia, additional, Precone, Vincenza, additional, Boccia, Angelo, additional, Fienga, Antonella, additional, Pacileo, Giuseppe, additional, Limongelli, Giuseppe, additional, Paolella, Giovanni, additional, Calabrò, Raffaele, additional, and Salvatore, Francesco, additional
- Published
- 2014
- Full Text
- View/download PDF
24. Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines
- Author
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D’Argenio, Valeria, primary, Casaburi, Giorgio, additional, Precone, Vincenza, additional, and Salvatore, Francesco, additional
- Published
- 2014
- Full Text
- View/download PDF
25. An Altered Gut Microbiome Profile in a Child Affected by Crohn's Disease Normalized After Nutritional Therapy
- Author
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D'Argenio, Valeria, primary, Precone, Vincenza, additional, Casaburi, Giorgio, additional, Miele, Erasmo, additional, Martinelli, Massimo, additional, Staiano, Annamaria, additional, Salvatore, Francesco, additional, and Sacchetti, Lucia, additional
- Published
- 2013
- Full Text
- View/download PDF
26. Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines.
- Author
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D'Argenio, Valeria, Casaburi, Giorgio, Precone, Vincenza, and Salvatore, Francesco
- Abstract
Technological advances in next-generation sequencing-based approaches have greatly impacted the analysis of microbial community composition. In particular, 16S rRNA-based methods have been widely used to analyze the whole set of bacteria present in a target environment. As a consequence, several specific bioinformatic pipelines have been developed to manage these data. MetaGenome Rapid Annotation using Subsystem Technology (MG-RAST) and Quantitative Insights IntoMicrobial Ecology (QIIME) are two freely available tools for metagenomic analyses that have been used in a wide range of studies. Here, we report the comparative analysis of the same dataset with both QIIME and MG-RAST in order to evaluate their accuracy in taxonomic assignment and in diversity analysis. We found that taxonomic assignment was more accurate with QIIME which, at family level, assigned a significantly higher number of reads. Thus, QIIME generated a more accurate BIOM file, which in turn improved the diversity analysis output. Finally, although informatics skills are needed to install QIIME, it offers a wide range of metrics that are useful for downstream applications and, not less important, it is not dependent on server times. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
27. Salvage therapy with tenofovir followed by adefovir maintenance in a cirrhotic patient with a lamivudine resistant HBV flare.
- Author
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Stornaiuolo, Gianfranca, Brancaccio, Giuseppina, Precone, Vincenza, Sgrò, Graziella, Nardiello, Salvatore, and Gaeta, Giovanni Battista
- Published
- 2009
28. Immunophenotypical characterization of paraneoplastic neurological syndrome patients: a multicentric study
- Author
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Matteo Bertelli, Gaelle K Ngonga K Ngonga, Bruno Giometto, Stefano Paolacci, D. Ferrari, Ian K. Hart, Ernie Marshall, Raffaele Pezzani, Giovanni Ricevuti, Vincenza Precone, Lorenzo Lorusso, Gaelle K. Ngonga, Lorusso, Lorenzo, Precone, Vincenza, K Hart, Ian, Giometto, Bruno, Pezzani, Raffaele, K Ngonga, Gaelle, Paolacci, Stefano, Ferrari, Daniela, Ricevuti, Giovanni, Marshall, Ernie, and Bertelli, Matteo
- Subjects
0106 biological sciences ,Nervous system ,Adult ,Male ,Autoantibodies ,cancer ,immunophenotypical characterization ,paraneoplastic neurological syndromes ,Pathology ,medicine.medical_specialty ,animal structures ,Neurological disorder ,01 natural sciences ,Nervous System ,General Biochemistry, Genetics and Molecular Biology ,Immunophenotyping ,Neoplasms ,Neurological syndrome ,Medicine ,Animals ,Humans ,In patient ,Aged ,Aged, 80 and over ,biology ,business.industry ,Autoantibody ,Cancer ,General Medicine ,Middle Aged ,medicine.disease ,Autoantibodie ,Rats ,medicine.anatomical_structure ,nervous system ,Italy ,biology.protein ,Population study ,Female ,sense organs ,Antibody ,General Agricultural and Biological Sciences ,business ,010606 plant biology & botany ,Paraneoplastic Syndromes, Nervous System - Abstract
Paraneoplastic neurological syndromes (PNS) are a group of rare and severe immune-mediated disorders that affect the nervous system in patients with cancer. The best way to diagnose a paraneoplastic neurological disorder is to identify anti-onconeural protein antibodies that are specifically associated with various cancers. The aim of this multicentric study was to clinically and immunologically characterize patients with PNS and study their association with cancer. Patients suspected to have PNS were enrolled from various clinical centres and were characterized immunologically. This study population consisted of 112 patients. Onset of PNS was mainly subacute (76 %). PNS patients had various neurological disorders and symptoms. PNS developed before the diagnosis of cancer in 28 definite PNS patients and in six suspected PNS patients. The most frequent autoantibodies detected in PNS patients were anti-Hu and anti-Yo. One definite PNS patient with cerebellar syndrome had anti-Tr antibody and seven patients had atypical antibodies. The literature associates these antibodies with various neurological disorders and cancers. Our observations confirm the important role of autoantibodies in PNS and their importance for the early diagnosis of cancer in PNS patients.
- Published
- 2021
29. The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing
- Author
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Giorgio Casaburi, Vincenza Precone, Paolina Cavalcanti, Gaetano De Rosa, Giancarlo Troncone, Iolanda Coto, Umberto Malapelle, Marielva Torino, Lucia Sacchetti, Francesco Salvatore, Maria Valeria Esposito, Valeria D'Argenio, Laura Iaffaldano, D'Argenio, Valeria, Torino, Marielva, Precone, Vincenza, Casaburi, Giorgio, Esposito, MARIA VALERIA, Iaffaldano, Laura, Malapelle, Umberto, Troncone, Giancarlo, Coto, Iolanda, Cavalcanti, Paolina, DE ROSA, Gaetano, Salvatore, Francesco, and Sacchetti, Lucia
- Subjects
0301 basic medicine ,cold case ,Male ,metagenomics ,human microbiome ,next generation sequencing ,History, 18th Century ,lcsh:Chemistry ,Cause of Death ,RNA, Ribosomal, 16S ,Lack of knowledge ,Child ,lcsh:QH301-705.5 ,Spectroscopy ,Laser capture microdissection ,Cause of death ,Genetics ,Microbiota ,High-Throughput Nucleotide Sequencing ,Osteomyelitis ,General Medicine ,Computer Science Applications ,Actinobacteria ,Genotype ,Firmicutes ,Laser Capture Microdissection ,Biology ,Catalysis ,DNA sequencing ,Article ,Bone and Bones ,Inorganic Chemistry ,03 medical and health sciences ,Pseudomonas ,Proteobacteria ,Humans ,Pseudomonas Infections ,Microbiome ,Typing ,metagenomic ,Physical and Theoretical Chemistry ,Molecular Biology ,Genotyping ,Male gender ,Bacteroidetes ,Organic Chemistry ,030104 developmental biology ,lcsh:Biology (General) ,lcsh:QD1-999 ,Evolutionary biology - Abstract
The history of medicine abounds in cases of mysterious deaths, especially by infectious diseases, which were probably unresolved because of the lack of knowledge and of appropriate technology. The aim of this study was to exploit contemporary technologies to try to identify the cause of death of a young boy who died from a putative “infection” at the end of the 18th century, and for whom an extraordinarily well-preserved minute bone fragment was available. After confirming the nature of the sample, we used laser microdissection to select the most “informative” area to be examined. Tissue genotyping indicated male gender, thereby confirming the notary’s report. 16S ribosomal RNA sequencing showed that Proteobacteria and Actinobacteria were more abundant than Firmicutes and Bacteroidetes, and that Pseudomonas was the most abundant bacterial genus in the Pseudomonadaceae family. These data suggest that the patient most likely died from Pseudomonas osteomyelitis. This case is an example of how new technological approaches, like laser microdissection and next-generation sequencing, can resolve ancient cases of uncertain etiopathology. Lastly, medical samples may contain a wealth of information that may not be accessible until more sophisticated technology becomes available. Therefore, one may envisage the possibility of systematically storing medical samples for evaluation by future generations.
- Published
- 2017
30. Comparative Metagenomic Analysis of Human Gut Microbiome Composition Using Two Different Bioinformatic Pipelines
- Author
-
Francesco Salvatore, Vincenza Precone, Valeria D'Argenio, Giorgio Casaburi, D'Argenio, Valeria, Casaburi, Giorgio, Precone, Vincenza, and Salvatore, Francesco
- Subjects
Article Subject ,Immunology and Microbiology (all) ,lcsh:Medicine ,Computational biology ,Biology ,General Biochemistry, Genetics and Molecular Biology ,Metagenomic ,Human gut ,RNA, Ribosomal, 16S ,Humans ,Microbiome ,RNA RIBOSOMAL 16S ,Genetics ,Biochemistry, Genetics and Molecular Biology (all) ,Bacteria ,General Immunology and Microbiology ,Microbiota ,Medicine (all) ,lcsh:R ,Computational Biology ,High-Throughput Nucleotide Sequencing ,General Medicine ,Gastrointestinal Tract ,Diversity analysis ,Metagenomics ,Metagenome ,Research Article ,Human - Abstract
Technological advances in next-generation sequencing-based approaches have greatly impacted the analysis of microbial community composition. In particular, 16S rRNA-based methods have been widely used to analyze the whole set of bacteria present in a target environment. As a consequence, several specific bioinformatic pipelines have been developed to manage these data. MetaGenome Rapid Annotation using Subsystem Technology (MG-RAST) and Quantitative Insights Into Microbial Ecology (QIIME) are two freely available tools for metagenomic analyses that have been used in a wide range of studies. Here, we report the comparative analysis of the same dataset with both QIIME and MG-RAST in order to evaluate their accuracy in taxonomic assignment and in diversity analysis. We found that taxonomic assignment was more accurate with QIIME which, at family level, assigned a significantly higher number of reads. Thus, QIIME generated a more accurate BIOM file, which in turn improved the diversity analysis output. Finally, although informatics skills are needed to install QIIME, it offers a wide range of metrics that are useful for downstream applications and, not less important, it is not dependent on server times.
- Published
- 2014
31. No Change in the Mucosal Gut Mycobioma Is Associated with Celiac Disease-Specific Microbiome Alteration in Adult Patients
- Author
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Matteo Chiara, Ilaria Russo, David S. Horner, Sangman M. Kim, Vincenza Precone, Francesco Salvatore, Graziano Pesole, Roberta Colicchio, Valeria D'Argenio, Bana Jabri, Carolina Ciacci, Daniela Sarnataro, Gregory J Caporaso, Giovanni Monteleone, Giorgio Casaburi, Lucia Sacchetti, Paola Salvatore, Valentina Discepolo, Chiara Pagliuca, Giovanna Del Vecchio Blanco, D'Argenio, Valeria, Casaburi, Giorgio, Precone, Vincenza, Pagliuca, Chiara, Colicchio, Roberta, Sarnataro, Daniela, Discepolo, Valentina, Kim, Sangman M., Russo, Ilaria, Del Vecchio Blanco, Giovanna, Horner, David S., Chiara, Matteo, Pesole, Graziano, Salvatore, Paola, Monteleone, Giovanni, Ciacci, Carolina, Caporaso, Gregory J., Jabrì, Bana, Salvatore, Francesco, and Sacchetti, Lucia
- Subjects
0301 basic medicine ,Disease specific ,Adult ,Duodenum ,Polymerase Chain Reaction ,law.invention ,Microbiology ,03 medical and health sciences ,0302 clinical medicine ,law ,Medicine ,Humans ,Microbiome ,skin and connective tissue diseases ,DNA, Fungal ,Polymerase chain reaction ,Settore MED/12 - Gastroenterologia ,Hepatology ,Adult patients ,business.industry ,Gastroenterology ,nutritional and metabolic diseases ,High-Throughput Nucleotide Sequencing ,Gastroenterology celiac diesease mycobioma fungi ,Sequence Analysis, DNA ,digestive system diseases ,Gut microbiome ,Gastrointestinal Microbiome ,Celiac Disease ,030104 developmental biology ,Immunology ,030211 gastroenterology & hepatology ,sense organs ,business - Abstract
No Change in the Mucosal Gut Microbiome is Associated With Celiac Disease-Specific Microbiome Alteration in Adult Patients
- Published
- 2016
32. Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives
- Author
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Maria Valeria Esposito, Fatima Domenica Elisa De Palma, Anna Lilia Ruocco, Valeria D'Argenio, Valentina Del Monaco, Francesco Salvatore, Vincenza Precone, Precone, Vincenza, DEL MONACO, Valentina, Esposito, MARIA VALERIA, De Palma, Fatima Domenica Elisa, Ruocco, Anna, Salvatore, Francesco, and D'Argenio, Valeria
- Subjects
Standardization ,Immunology and Microbiology (all) ,lcsh:Medicine ,Genomics ,Computational biology ,Review Article ,Biology ,Genome ,General Biochemistry, Genetics and Molecular Biology ,DNA sequencing ,Databases, Genetic ,Humans ,Genetics ,Flexibility (engineering) ,Biochemistry, Genetics and Molecular Biology (all) ,General Immunology and Microbiology ,Genome, Human ,lcsh:R ,Genetic Diseases, Inborn ,High-Throughput Nucleotide Sequencing ,General Medicine ,DNA Methylation ,Molecular diagnostics ,Mutation ,Human genome ,Personal genomics - Abstract
Next-generation sequencing (NGS) technologies have greatly impacted on every field of molecular research mainly because they reduce costs and increase throughput of DNA sequencing. These features, together with the technology’s flexibility, have opened the way to a variety of applications including the study of the molecular basis of human diseases. Several analytical approaches have been developed to selectively enrich regions of interest from the whole genome in order to identify germinal and/or somatic sequence variants and to study DNA methylation. These approaches are now widely used in research, and they are already being used in routine molecular diagnostics. However, some issues are still controversial, namely, standardization of methods, data analysis and storage, and ethical aspects. Besides providing an overview of the NGS-based approaches most frequently used to study the molecular basis of human diseases at DNA level, we discuss the principal challenges and applications of NGS in the field of human genomics.
- Published
- 2015
33. Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder.
- Author
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Donato K, Ceccarini MR, Dhuli K, Bonetti G, Medori MC, Marceddu G, Precone V, Xhufi S, Bushati M, Bozo D, Beccari T, and Bertelli M
- Subjects
- Humans, Developed Countries, Genome-Wide Association Study, Binge-Eating Disorder genetics, Anorexia Nervosa genetics, Bulimia Nervosa genetics
- Abstract
Eating disorders such as anorexia nervosa, bulimia nervosa and binge-eating disorder, have a deep social impact, concluding with death in cases of severe disease. Eating disorders affect up to 5% of the population in the industrialized countries, but probably the phenomenon is under-detection and under-diagnosis. Eating disorders are multifactorial disorders, resulting from the interaction between environmental triggers, psychological factors, but there is also a strong genetic component. In fact, genetic factors predispose for approximately 33-84% to anorexia nervosa, 28-83% to bulimia nervosa, and 41-57% to binge eating disorder. Twins and family studies have provided an unassailable proof on the heritability of these disorders. Other types of genetic studies, including genome-wide association studies, whole genome sequencing and linkage analysis, allowed to identify the genes and their variants associated with eating disorders and moreover global collaborative efforts have led to delineate the etiology of these disorders. Next Generation Sequencing technologies can be considered as an ideal diagnostic approach to identify not only the common variants, such as single nucleotide polymorphism, but also rare variants. Here we summarize the present knowledge on the molecular etiology and genetic determinants of eating disorders including serotonergic genes, dopaminergic genes, opioid genes, appetite regulation genes, endocannabinoid genes and vitamin D3., (©2022 Pacini Editore SRL, Pisa, Italy.)
- Published
- 2022
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34. Sudden unexplained death due to cardiac arrest.
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Precone V, Guerri G, Krasi G, Lupi L, Papa I, Beccari T, Maltese PE, Manara E, and Bertelli M
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- Genetic Predisposition to Disease, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Death, Sudden, Cardiac epidemiology
- Abstract
Sudden unexplained death due to cardiac arrest refers to a group of heterogeneous heart disorders characterized by sudden cessation of cardiac activity followed by hemodynamic collapse. It may be associated with structural heart disease or may occur in the absence of structural abnormalities. These inherited conditions increase the risk of sudden unexplained death in living relatives when there is a family history of sudden death. It is recommended to screen other family members of sudden unexplained death victims, as studies have revealed affected individuals in 40% of families.
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- 2019
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35. Genetics and pharmacogenetics in the diagnosis and therapy of cardiovascular diseases.
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Krasi G, Precone V, Paolacci S, Stuppia L, Nodari S, Romeo F, Perrone M, Bushati V, Dautaj A, and Bertelli M
- Subjects
- Cardiovascular Diseases diagnosis, Genetic Predisposition to Disease, Genetic Testing, Humans, Risk Factors, Cardiovascular Diseases drug therapy, Cardiovascular Diseases genetics, Molecular Biology, Pharmacogenetics
- Abstract
Cardiovascular diseases are the main cause of death worldwide. The ability to accurately define individual susceptibility to these disorders is therefore of strategic importance. Linkage analysis and genome-wide association studies have been useful for the identification of genes related to cardiovascular diseases. The identification of variants predisposing to cardiovascular diseases contributes to the risk profile and the possibility of tailored preventive or therapeutic strategies. Molecular genetics and pharmacogenetics are playing an increasingly important role in the correct clinical management of patients. For instance, genetic testing can identify variants that influence how patients metabolize medications, making it possible to prescribe personalized, safer and more efficient treatments, reducing medical costs and improving clinical outcomes. In the near future we can expect a great increment in information and genetic testing, which should be acknowledged as a true branch of diagnostics in cardiology, like hemodynamics and electrophysiology. In this review we summarize the genetics and pharmacogenetics of the main cardiovascular diseases, showing the role played by genetic information in the identification of cardiovascular risk factors and in the diagnosis and therapy of these conditions.
- Published
- 2019
- Full Text
- View/download PDF
36. Monogenic hyperlipidemias.
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Krasi G, Bushati V, Precone V, Cortese B, Agostini F, Tezzele S, Baglivo M, Cecchin S, Aquilanti B, Velluti V, Matera G, Gagliardi L, Miggiano GAD, and Bertelli M
- Subjects
- Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Mutation, Hyperlipidemias diagnosis, Hyperlipidemias genetics
- Abstract
Monogenic hyperlipidemias are a group of inherited disorders characterized by elevated plasma concentrations of lipids and lipoproteins. High plasma concentrations of lipids are the most frequent risk factor for cardiovascular disease. Monogenic hyperlipidemias are a minor cause with respect to multifactorial hyperlipidemias. Diagnosis is based on clinical findings and lipid panel measurements. Genetic testing is useful for confirming diagnosis and for differential diagnosis, recurrence risk calculation and prenatal diagnosis in families with a known mutation. Monogenic hyperlipidemias can have either autosomal dominant or recessive inheritance.
- Published
- 2019
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37. Genetic syndromes with localized subcutaneous fat tissue accumulation.
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Precone V, Barati S, Paolacci S, Salgarello M, Visconti G, Gentileschi S, Guerri G, Gagliardi L, Aquilanti B, Matera G, Velluti V, Miggiano GAD, Herbst KL, and Bertelli M
- Subjects
- Genetic Predisposition to Disease genetics, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Syndrome, Lipedema diagnosis, Lipedema genetics, Lipomatosis diagnosis, Lipomatosis genetics
- Abstract
Syndromes with localized accumulation of subcutaneous fatty tissue belong to a group of genetically and phenotypically heterogeneous disorders. These diseases may show some common signs, such as nodular fat, symmetrical fat masses, obesity, fatigue, lymphedema and symmetrical lipomas (painful or otherwise). Other symptoms may be specific for the different clinical entities, enabling correct differential diagnosis. Disorders belonging to this spectrum are lipedema, generalized diffuse or nodular forms of Dercum disease, localized nodular Dercum disease and multiple symmetric lipomatosis. Here we summarize the genes involved in syndromes with localized accumulation of subcutaneous fat and the test we use for genetic analysis.
- Published
- 2019
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38. Cardiac conduction defects.
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Guerri G, Krasi G, Precone V, Paolacci S, Chiurazzi P, Arrigoni L, Cortese B, Dautaj A, and Bertelli M
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- Cardiac Conduction System Disease therapy, Humans, Ion Channels genetics, Mutation genetics, Cardiac Conduction System Disease diagnosis, Cardiac Conduction System Disease genetics
- Abstract
Defects in cardiac electric impulse formation or conduction can lead to an irregular beat (arrhythmia) that can cause sudden death without any apparent cause or after stress. In the following sections, we describe the genetic disorders associated with primary cardiac conduction defects, primarily caused by mutations in ion channel genes. Primary indicates that these disorders are not caused by drugs and are not secondary to other disorders like cardiomyopathies (described in the next section).
- Published
- 2019
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39. Cardiomyopathies.
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Precone V, Krasi G, Guerri G, Madureri A, Piazzani M, Michelini S, Barati S, Maniscalchi T, Bressan S, and Bertelli M
- Subjects
- Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Cardiomyopathies diagnosis, Cardiomyopathies genetics
- Abstract
The most common cardiomyopathies often present to primary care physicians with similar symptoms, despite the fact that they involve a variety of phenotypes and etiologies (1). Many have signs and symptoms common in heart failure, such as reduced ejection fraction, peripheral edema, fatigue, orthopnea, exertion dyspnea, paroxysmal nocturnal dyspnea, presyncope, syncope and cardiac ischemia (1). In all cardiomyopathies, the cardiac muscle (myocardium) may be structurally and/or functionally impaired. They can be classified as hypertrophic, dilated, left-ventricular non compaction, restrictive and arrhythmogenic right ventricular cardiomyopathies.
- Published
- 2019
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40. Hereditary thrombophilia.
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Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, and Bertelli M
- Subjects
- Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Thrombophilia diagnosis, Thrombophilia genetics
- Abstract
Thrombophilia is a group of disorders in which blood has an increased tendency to clot. It may be caused by inherited or acquired conditions. Thrombophilia is associated with risk of deep venous thrombosis and/or venous thromboembolism. Factor V Leiden thrombophilia is the most common inherited form of thrombophilia and prothrombin-related thrombophilia is the second most common genetic form of thrombophilia, occurring in about 1.7-3% of the European and US general populations (3). Thrombophilia may have autosomal dominant, autosomal recessive or X-linked inheritance. Genetic testing is useful for confirming diagnosis and for differential diagnosis, recurrence risk evaluation and asymptomatic diagnosis in families with a known mutation.
- Published
- 2019
- Full Text
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41. Monogenic hypertension.
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Precone V, Krasi G, Guerri G, Stuppia L, Romeo F, Perrone M, Marinelli C, Zulian A, Dallavilla T, and Bertelli M
- Subjects
- Aldosterone metabolism, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Hydrocortisone metabolism, Hypertension metabolism, Mutation genetics, Potassium metabolism, Renin metabolism, Hypertension diagnosis, Hypertension genetics
- Abstract
Hypertension is a significant public health problem. Thirty percent of cases are caused by a single genetic mutation. Hypertension is the predominant and usually the only manifestation in monogenic hypertension Monogenic hypertension may involve mineralcorticoid-dependent or -independent increase in Na+ transport. Diagnosis is based on routine physical examination, blood pressure measurement and laboratory analysis of renin, aldosterone, cortisol and potassium. Genetic testing is useful for confirming diagnosis and for differential diagnosis. Monogenic hypertension has autosomal dominant or autosomal recessive inheritance.
- Published
- 2019
- Full Text
- View/download PDF
42. A common microbial signature is present in the lower airways of interstitial lung diseases including sarcoidosis.
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D'Argenio V, Casaburi G, Precone V, Gioacchino Moccia L, Postiglione I, Bocchino M, and Sanduzzi A
- Abstract
Background: The etiology of pulmonary sarcoidosis is not well established. Although the mechanism triggering pulmonary sarcoidosis remains to be established, inflammatory reactions seem to play an important role in this process. Objectives: The aim of this study was to define the composition of the lower airway microbiota in the bronchoalveolar lavage (BAL) of patients affected by interstitial lung diseases, including sarcoidosis, to determine whether the bacterial signature differs among these diseases. Methods: Ten patients affected by pulmonary sarcoidosis and 9 patients affected by other interstitial lung diseases were enrolled. 16S rRNA next-generation sequencing was used to study BAL microbial composition of these patients, and were also compared with already published microbial content in higher airways of such diseases. Results: Four phyla dominated the lower airway microbiota, Bacteroidetes being the most abundant phylum in both groups (56.9%). Diversity analysis showed no significant differences between the various diseases, particularly between pulmonary sarcoidosis and other interstitial lung diseases affecting lower airways. Conclusions: Our data indicate that the bacterial lower airways microbiota share the same signature and, therefore, cannot be used as a diagnostic tool to discriminate among different interstitial lung diseases, including sarcoidosis, while microbial diversity is present when considering lower or higher respiratory airways. (Sarcoidosis Vasc Diffuse Lung Dis 2018; 35: 354-362) ., (Copyright: © 2018 SARCOIDOSIS VASCULITIS AND DIFFUSE LUNG DISEASES.)
- Published
- 2018
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43. DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.
- Author
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D'Argenio V, Frisso G, Precone V, Boccia A, Fienga A, Pacileo G, Limongelli G, Paolella G, Calabrò R, and Salvatore F
- Subjects
- Adolescent, Base Sequence, Calcium Channels, L-Type genetics, Cardiac Myosins genetics, Carrier Proteins genetics, Child, Female, High-Throughput Nucleotide Sequencing, Humans, KCNQ1 Potassium Channel genetics, Male, Middle Aged, Molecular Sequence Data, Mutant Chimeric Proteins genetics, Mutation, Myosin Heavy Chains genetics, Sequence Alignment, Sequence Analysis, DNA, Cardiomyopathy, Hypertrophic diagnosis, Cardiomyopathy, Hypertrophic genetics, Molecular Diagnostic Techniques
- Abstract
Hypertrophic cardiomyopathy is a relatively frequent disease with a prevalence of 0.2% worldwide and a remarkable genetic heterogeneity, with more than 30 causative genes reported to date. Current PCR-based strategies are inadequate for genomic investigations involving many candidate genes. Here, we report a next-generation sequencing procedure associated with DNA sequence capture that is able to sequence 202 cardiomyopathy-related genes simultaneously. We developed a complementary data analysis pipeline to select and prioritize genetic variants. The overall procedure can screen a large number of target genes simultaneously, thereby potentially revealing new disease-causing and modifier genes. By using this procedure, we analyzed hypertrophic cardiomyopathy patients in a shorter time and at a lower cost than with current procedures. The specificity of the next-generation sequencing-based procedure is at least as good as other techniques routinely used for mutation searching, and the sensitivity is much better. Analysis of the results showed some novel variants potentially involved in the pathogenesis of hypertrophic cardiomyopathy: a missense mutation in MYH7 and a nonsense variant in INS-IGF2 (patient 1), a splicing variant in MYBPC3 and an indel/frameshift variant in KCNQ1 (patient 2), and two concomitant variations in CACNA1C (patient 3). Sequencing of DNA from the three patients within a pool allowed detection of most variants identified in each individual patient, indicating that this approach is a feasible and cost-effective procedure., (Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2014
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44. Salvage therapy with tenofovir followed by adefovir maintenance in a cirrhotic patient with a lamivudine resistant HBV flare.
- Author
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Stornaiuolo G, Brancaccio G, Precone V, Sgrò G, Nardiello S, and Gaeta GB
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- Adenine administration & dosage, Adenine therapeutic use, Adult, Antiviral Agents administration & dosage, Antiviral Agents pharmacology, Drug Resistance, Viral, Drug Therapy, Combination, Hepatitis B, Chronic complications, Humans, Lamivudine therapeutic use, Male, Organophosphonates administration & dosage, Reverse Transcriptase Inhibitors administration & dosage, Tenofovir, Adenine analogs & derivatives, Antiviral Agents therapeutic use, DNA, Viral blood, Hepatitis B, Chronic drug therapy, Lamivudine pharmacology, Liver Cirrhosis etiology, Organophosphonates therapeutic use, Reverse Transcriptase Inhibitors therapeutic use, Salvage Therapy, Viremia drug therapy
- Abstract
A 36 year old man with chronic hepatitis B and cirrhosis was admitted in our Department for the onset of jaundice, ascites and ALT flare (x 35 u.n.v.) while under lamivudine treatment. Serum HBV-DNA was 1.48 x 10(6) IU/ml and lamivudine (LAM) resistance mutations were present. Tenofovir (TDF) 300 mg/day was added to LAM after its off-label use was authorised. HBV-DNA decreased in a biphasic manner and became undetectable by day 45. A parallel improvement in ALT and bilirubin values was detected. Tenofovir was substituted with adefovir dipivoxil 10 mg/day. Ten months after this switch HBV-DNA remained undetectable. Tenofovir is an effective salvage therapy for critically ill patients with LAM-resistant HBV flares and can be switched to adefovir after HBV-DNA becomes undetectable. Local cost and reimbursement policies are important determinants in antiviral therapy.
- Published
- 2009
45. Viral blips during long-term treatment with standard or double dose lamivudine in HBe antigen negative chronic hepatitis B.
- Author
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Stornaiuolo G, Stanzione M, Brancaccio G, Cuomo G, Precone V, Di Biase S, Felaco FM, Piccinino F, and Gaeta GB
- Subjects
- Adult, Aged, Alanine Transaminase blood, DNA, Viral blood, Female, Hepatitis B, Chronic virology, Humans, Male, Middle Aged, Polymerase Chain Reaction, Hepatitis B e Antigens blood, Hepatitis B, Chronic drug therapy, Lamivudine therapeutic use, Reverse Transcriptase Inhibitors therapeutic use
- Abstract
Aim: To evaluate safety and effect on hepatitis B virus (HBV) suppression of a long-term treatment with lamivudine (LAM) at standard (100 mg/d) or double (200 mg/d) dose in chronic hepatitis B., Methods: This was a case study with matched controls (1:3) in patients with chronic hepatitis B with anti-HBe antibodies., Results: Twelve patients received LAM 200 mg/d and 35 LAM 100 mg/d, for a median of 28 mo. A primary response (PR; i.e. negative HBV-DNA with Amplicor assay) was achieved in 100% of LAM-200 patients and 83% of LAM-100 patients. A virological breakthrough occurred in 16.7 and 24.7%, respectively, of the PR-patients, with the appearance of typical LAM resistance mutations in all but one patient. Viremia blips (i.e. transient HBV-DNA below 80 IU/mL in patients who tested negative at Amplicor assay) were detected using a real time polymerase chain reaction (PCR) and occurred in seven out of nine patients with subsequent BT and in four out of 32 patients with end-of-study response (77.7% vs 12.5%; P = 0.001) at chi-square test). At the end of the study, 51.4% of LAM-100 patients and 83.3% of LAM-200 patients had remained stably HBV-DNA negative. Double-dose LAM was well tolerated., Conclusion: Long-term treatment of anti-HBe positive chronic hepatitis B with double dose lamivudine causes a more profound and stable viral suppression as compared to conventional treatment.
- Published
- 2007
- Full Text
- View/download PDF
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