PW03-002 – Calculating Gaslini diagnostic score in PFAPA
نویسندگان
چکیده
Introduction PFAPA syndrome is the most common cause of periodic fevers in children. In the clinical setting of children with periodic fever, there are a minority of patients in which to differentiate between PFAPA and monogenic periodic fevers is not immediate. The Gaslini score would provide a useful tool in this setting, calculating the probability to carry a mutation for monogenic periodic fevers
منابع مشابه
PFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience
OBJECTIVE Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. METHODS 21 patients with PFAPA syndr...
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Methods Serum of three controls (CTRL) or PFAPA patients collected during (PFAPA-IN) and between (PFAPA-OUT) flares were incubated with monocytes isolated from healthy volunteers (n=3) and stimulated with ultra pure lipopolysaccharide (LPSup). IL-1b, TNF-a and IL-6 levels were measured by ELISA comparing serum stimulation alone and the impact of serum pre-incubation on LPSup induced cytokines.
متن کاملPW03-009 – Genetics of PFAPA syndrome
Introduction Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis (PFAPA) syndrome is an autoinflammatory disorder of childhood and little is known about the underlying etiology. While mutations involving the IL-1 pathway have been identified in other recurrent fever disorders, including TNF-receptor associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS)...
متن کاملEvidences for the need of new Diagnostic Criteria for PFAPA syndrome
Address: 1UO Pediatria II, G. Gaslini Institute and Department of Pediatrics, University of Genoa, Genova, Italy, 2Dipartimento di Pediatria, Unità di Immunologia e Reumatologia Pediatrica, Spedali Civili e University of Brescia, Brescia, Italy, 3Unità di Biostatistica, DISSAL, University of Genoa, Genova, Italy, 4Dipartimento A.I. di Pediatria, University of Padua, Padova, Italy, 5Ospedale Ped...
متن کاملPW03-003 – Altered neutrophil function in PFAPA
Introduction The PFAPA syndrome is a non-mendelian autoinflammatory disease of unknown aetiology characterized by Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis. In typical cases, attacks begin before the age of five and occur every 2-8 weeks, often with striking periodicity. We have previously profiled the blood cells and serum cytokine levels in a cohort study of pati...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013