PW02-027 - CAPS and cost-effectiveness analysis project
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چکیده
منابع مشابه
PW02-027 - CAPS and cost-effectiveness analysis project
Introduction Ultra-orphan drugs are medicines used to treat exceptionally rare diseases that are chronically debilitating or life-threatening. Low patient numbers make it difficult for pharmaceutical companies to recoup research and development costs, and consequently these medicines are generally very expensive on a per patient basis. European Union (EU) regulations promote the development of ...
متن کاملPW02-031 - Genetic and clinical manifestations of CAPS
Introduction Many variants in the NLRP3 gene are associated with a particular spectrum of autoinflammatory diseases or hereditary recurrent fevers (HRFs), including familial cold autoinflammatory syndrome (FCAS), Muckle Wells Syndrome (MWS), and chronic infantile neurologic, cutaneous and articular syndrome (CINCA), also known as neonatal onset multisystem inflammatory disease (NOMID). These ar...
متن کاملPW02-025 - Programme necrosis by CAPS-associated NLRP3
Introduction Cryopyrin-associated periodic syndrome (CAPS), clinically characterized by neutrophil-rich urticarial rash, is associated with missense mutations in NLRP3. NLRP3 is a pattern recognition receptor in the cytoplasm of cells and structurally related to plant resistance proteins, which detect pathogenor danger-associated signals, leading to programmed cell death and hyper response at t...
متن کاملPW02-039 - Long-term anakinra treatment in CAPS: a metaanalys
Introduction The common denominator in CAPS (FCAS, MuckleWells syndrome, NOMID/CINCA) is an uncontrolled IL-1b release. An often complete response after treatment with the IL-1 blocker anakinra (Kineret) has been demonstrated in all three entities of CAPS [1-3]. However, the overall documentation is limited due to the inherent difficulties in conducting randomized studies in the more severe for...
متن کاملPW02-026 - Low frequency variants of NLRP3 in CAPS patients
Methods All exons of NLRP3 were amplified by PCR (30 cycles) from genomic DNA isolated from PBMCs of healthy controls or CAPS patients. Thereafter, PCR products were concatenated, fragmented and subjected to NGS fragment library preparation followed by Illumina short read sequencing. For SNV calling a customized pipeline on basis of the GATK pipeline (1000 Genomes project) was utilized using a ...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a168