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...
| Publicado en: | BioMed Research International Vol. 2013; pp. 501305 - 501306 |
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| Autores principales: | , , , , , , |
| Formato: | Journal Article |
| Publicado: |
Wiley-Blackwell
2013
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104287011&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104287011 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 2013 vid: 2013 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 104287011 2012116604 NLM23484126 PMC3581266 104287011 ppf: 501305 ppct: 1 formats: fmt: @attributes: type: P tig: atl: Clinical genetic testing of periodic fever syndromes. aug: au: Marcuzzi, Annalisa Piscianz, Elisa Kleiner, Giulio Tommasini, Alberto Severini, Giovanni Maria Monasta, Lorenzo Crovella, Sergio affil: Laboratory of Immunopathology, Institute for Maternal and Child Health (IRCCS) 'Burlo Garofolo', 34137 Trieste, Italy. marcuzzi@burlo.trieste.it sug: subj: Fever Diagnosis Fever Hereditary Diseases Diagnosis Hereditary Diseases Genetic Screening Sequence Analysis Methods Diagnosis, Differential Syndrome ab: 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. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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