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10.1186/s13023-017-0589-1 http://scihub22266oqcxt.onion/10.1186/s13023-017-0589-1 C5309976!5309976!28196516     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Orphanet+J+Rare+Dis 2017 ; 12 (ä): ä Nephropedia Template TP {{tp|p=28196516|t=2017. Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS) |pdf=|usr=}}{{28196516}} gab.com Text Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS) JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=28196516 #FOAvip Background: To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). Methods: In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed. Results: Twenty-four patients (15 adults and 9 children at diagnosis) with CAPS were included. The median age at disease onset was 0 year (birth) [range 0?14], the median age at diagnosis was 20 years [range 0?53] and the mean duration of follow-up was 10.4?±?2 years. Neurological involvement at diagnosis, mostly headaches and hearing loss, was noted in 17 patients (71%). Two patients of the same family had abnormal brain MRI. A439V mutation is frequently associated with a non-neurological phenotype while R260W mutation tends to be associated with neurological involvement. Eleven adult patients (61%) and 3 children (50%) underwent school difficulties. Conclusion: Neurological involvement is frequent in patients with CAPS and the majority of patients presented difficulties in school performances with consequences in the professional outcome during adulthood. Further studies in larger cohorts of children with CAPS focusing in intellectual efficiency and school performances are necessary. Twit Text FOAVip Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS) ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=28196516 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28196516 #FOAvip English Wikipedia <ref>{{Cite pmid|28196516}}</ref> Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS) #MMPMID28196516 Mamoudjy N; Maurey H; Marie I; Koné-Paut I; Deiva K Orphanet J Rare Dis 2017[]; 12 (ä): ä PMID28196516show ga Background: To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). Methods: In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestations, CSF data and MRI results at diagnosis and during follow-up were analyzed. Results: Twenty-four patients (15 adults and 9 children at diagnosis) with CAPS were included. The median age at disease onset was 0 year (birth) [range 0?14], the median age at diagnosis was 20 years [range 0?53] and the mean duration of follow-up was 10.4?±?2 years. Neurological involvement at diagnosis, mostly headaches and hearing loss, was noted in 17 patients (71%). Two patients of the same family had abnormal brain MRI. A439V mutation is frequently associated with a non-neurological phenotype while R260W mutation tends to be associated with neurological involvement. Eleven adult patients (61%) and 3 children (50%) underwent school difficulties. Conclusion: Neurological involvement is frequent in patients with CAPS and the majority of patients presented difficulties in school performances with consequences in the professional outcome during adulthood. Further studies in larger cohorts of children with CAPS focusing in intellectual efficiency and school performances are necessary. äNeurological outcome of patients with cryopyrin-associated periodic sy(epmc).pdf DeepDyve Pubget Overpricing