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10.1186/s12969-015-0006-z http://scihub22266oqcxt.onion/10.1186/s12969-015-0006-z C4393620!4393620!25866490     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Pediatr+Rheumatol+Online+J 2015 ; 13 (ä): ä Nephropedia Template TP {{tp|p=25866490|t=2015. Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study |pdf=|usr=}}{{25866490}} gab.com Text Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study JO: Pediatr Rheumatol Online J http://www.kidney.de/pget.php?&tw=1&pmid=25866490 #FOAvip Background: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS. Methods: Simultaneous double strand Sanger sequencing of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12 genes was performed in 42 patients with unexplained PFS. Clinical features were correlated with genetic results. Results: None of 42 patients analyzed displayed a causative genotype. However, single or multiple genetic variants of uncertain significance were detected in 24 subjects. Only in 5 subjects a definite diagnosis was made by taking into account both genetic and clinical data (2 TRAPS syndrome; 2 FMF; 1 FCAS). Statistical analysis showed that patients carrying genetic variants in one or more of the five selected genes displayed a significantly lower response to glucocorticoids compared with subjects who had completely negative genetic results. Conclusions: The sequencing of multiple genes is of little help in the diagnostics of PFS and can often lead to results of uncertain interpretation, thus the clinically driven sequencing of single genes should remain the recommended approach. However, the presence of single or multiple genetic variants of uncertain significance, even if not allowing any specific diagnosis, correlated with a poorer response to glucocorticoids, possibly indicating a multifactorial subgroup of PFS with differential response to pharmacological treatment. Electronic supplementary material: The online version of this article (doi:10.1186/s12969-015-0006-z) contains supplementary material, which is available to authorized users. Twit Text FOAVip Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study ????Pediatr Rheumatol Online J http://www.kidney.de/pget.php?&tw=1&pmid=25866490 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25866490 #FOAvip English Wikipedia <ref>{{Cite pmid|25866490}}</ref> Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study #MMPMID25866490 De Pieri C; Vuch J; De Martino E; Bianco AM; Ronfani L; Athanasakis E; Bortot B; Crovella S; Taddio A; Severini GM; Tommasini A Pediatr Rheumatol Online J 2015[]; 13 (ä): ä PMID25866490show ga Background: Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS. Methods: Simultaneous double strand Sanger sequencing of MEFV, MVK, TNFRSF1A, NLRP3, NLRP12 genes was performed in 42 patients with unexplained PFS. Clinical features were correlated with genetic results. Results: None of 42 patients analyzed displayed a causative genotype. However, single or multiple genetic variants of uncertain significance were detected in 24 subjects. Only in 5 subjects a definite diagnosis was made by taking into account both genetic and clinical data (2 TRAPS syndrome; 2 FMF; 1 FCAS). Statistical analysis showed that patients carrying genetic variants in one or more of the five selected genes displayed a significantly lower response to glucocorticoids compared with subjects who had completely negative genetic results. Conclusions: The sequencing of multiple genes is of little help in the diagnostics of PFS and can often lead to results of uncertain interpretation, thus the clinically driven sequencing of single genes should remain the recommended approach. However, the presence of single or multiple genetic variants of uncertain significance, even if not allowing any specific diagnosis, correlated with a poorer response to glucocorticoids, possibly indicating a multifactorial subgroup of PFS with differential response to pharmacological treatment. Electronic supplementary material: The online version of this article (doi:10.1186/s12969-015-0006-z) contains supplementary material, which is available to authorized users. äGenetic profiling of autoinflammatory disorders in patients with perio(epmc).pdf DeepDyve Pubget Overpricing