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Increased Frequency Of Extremely Skewed X Chromosome Inactivation In Juvenile Idiopathic Arthritis
(Wiley-Blackwell, 2009)
Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...
Colchicine Resistance And Intolerance In Familial Mediterranean Fever: Definition, Causes, And Alternative Treatments
(W B Saunders Co-Elsevier Inc, 2017)
Background: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory syndrome characterized by recurrent serositis or arthritis attacks and, in some patients, chronic subclinical inflammation that predisposes ...
Eular/Printo/Pres Criteria For Henoch-Schonlein Purpura, Childhood Polyarteritis Nodosa, Childhood Wegener Granulomatosis And Childhood Takayasu Arteritis: Ankara 2008. Part Ii: Final Classification Criteria
(Bmj Publishing Group, 2010)
Objectives To validate the previously proposed classification criteria for Henoch-Schonlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA). Methods ...
Eular/Pres Standards And Recommendations For The Transitional Care Of Young People With Juvenile-Onset Rheumatic Diseases
(Bmj Publishing Group, 2017)
To develop standards and recommendations for transitional care for young people (YP) with juvenile-onset rheumatic and musculoskeletal diseases (jRMD). The consensus process involved the following: (1) establishing an ...
Eular/Pres Endorsed Consensus Criteria For The Classification Of Childhood Vasculitides
(B M J Publishing Group, 2006)
Background: There has been a lack of appropriate classification criteria for vasculitis in children. Objective: To develop a widely accepted general classification for the vasculitides observed in children and specific and ...
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)
Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...
Jak1/2 Inhibition with Baricitinib in the Treatment of Autoinflammatory Interferonopathies
BACKGROUND. Monogenic IFN–mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality. We used the JAK inhibitor baricitinib, ...
Kaposi Sarcoma In A Paediatric Renal Transplant Recipient
(Oxford Univ Press United Kingdom, 1996)
Type I Ifn-Related Netosis In Ataxia Telangiectasia And Artemis Deficiency
(Mosby-Elsevier, 2018)
Background: Pathological inflammatory syndromes of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory manifestations also exist in patients with STING-associated ...
Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study
(Oxford Univ Press, 2002)
Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. ...
Association of Nitric Oxide Production and Apoptosis in A Model of Experimental Nephropathy
(Oxford Univ Press, 2001)
Background. In recent studies increased amounts of nitric oxide (NO) and apoptosis have been implicated in various pathological conditions in the kidney. We have studied the role of NO and its association with apoptosis ...
C Reactive Protein: Protecting from Lupus in Familial Mediterranean Fever
(B M J Publishing Group, 2005)
