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Clinical Genetic Testing of Periodic Fever Syndromes
Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain witho...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581266/ https://www.ncbi.nlm.nih.gov/pubmed/23484126 http://dx.doi.org/10.1155/2013/501305 |
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author | Marcuzzi, Annalisa Piscianz, Elisa Kleiner, Giulio Tommasini, Alberto Severini, Giovanni Maria Monasta, Lorenzo Crovella, Sergio |
author_facet | Marcuzzi, Annalisa Piscianz, Elisa Kleiner, Giulio Tommasini, Alberto Severini, Giovanni Maria Monasta, Lorenzo Crovella, Sergio |
author_sort | Marcuzzi, Annalisa |
collection | PubMed |
description | Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions. |
format | Online Article Text |
id | pubmed-3581266 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-35812662013-03-12 Clinical Genetic Testing of Periodic Fever Syndromes Marcuzzi, Annalisa Piscianz, Elisa Kleiner, Giulio Tommasini, Alberto Severini, Giovanni Maria Monasta, Lorenzo Crovella, Sergio Biomed Res Int Review Article Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions. Hindawi Publishing Corporation 2013 2013-01-01 /pmc/articles/PMC3581266/ /pubmed/23484126 http://dx.doi.org/10.1155/2013/501305 Text en Copyright © 2013 Annalisa Marcuzzi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Marcuzzi, Annalisa Piscianz, Elisa Kleiner, Giulio Tommasini, Alberto Severini, Giovanni Maria Monasta, Lorenzo Crovella, Sergio Clinical Genetic Testing of Periodic Fever Syndromes |
title | Clinical Genetic Testing of Periodic Fever Syndromes |
title_full | Clinical Genetic Testing of Periodic Fever Syndromes |
title_fullStr | Clinical Genetic Testing of Periodic Fever Syndromes |
title_full_unstemmed | Clinical Genetic Testing of Periodic Fever Syndromes |
title_short | Clinical Genetic Testing of Periodic Fever Syndromes |
title_sort | clinical genetic testing of periodic fever syndromes |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581266/ https://www.ncbi.nlm.nih.gov/pubmed/23484126 http://dx.doi.org/10.1155/2013/501305 |
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