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Now showing items 81-100 of 158
The “Other” Vasculitis Syndromes and Kidney Involvement
(2010)
There are a number of vasculitides that are not confined to a specific vessel size, do not have characteristic features, and/or are not secondary to another disease. Most of these vasculitides are rare in childhood. Behçet ...
Validation Of The Cutaneous Lupus Erythematosus Disease Area And Severity Index And Pskindex27 For Use In Childhood-Onset Systemic Lupus Erythematosus
(2018)
Objective To determine the measurement properties of the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) and the paediatric adaptation of the Skindex29 (pSkindex27) when used in childhood-onset SLE ...
Tumour Necrosis Factor Alpha G -> A-238 And G -> A-308 Polymorphisms In Juvenile Idiopathic Arthritis
(Oxford Univ Press, 2002)
Objectives. To study G-->A -238 and G-->A -308 polymorphisms in the promoter region of the tumour necrosis factor (TNF) alpha gene in patients with juvenile idiopathic arthritis (JIA). We analysed whether there were any ...
Vasculitis In Systemic Autoinflammatory Diseases
(2018)
Autoinflammatory diseases (AID) are diseases of the innate immune system, characterized by recurrent episodes of localized or systemic inflammation. Vasculitis may accompany AID. The causes of the association of vasculitis ...
Vasculitis In Children
(Oxford Univ Press, 2015)
Primary systemic vasculitides of the young are relatively rare diseases, but are associated with significant morbidity and mortality, particularly if there is diagnostic delay. We provide an overview of paediatric vasculitides ...
Pediatric Nephrology and Rheumatology Practice Patterns in Granulomatosis with Polyangiitis: A Midwest Pediatric Nephrology Consortium Study
(2018)
Objective To assess practice pattern similarities and differences amongst pediatric rheumatologists and nephrologists in the management of pediatric Granulomatosis with Polyangiitis (GPA). Methods A voluntary survey was ...
The Phenotype Of Tnf Receptor-Associated Autoinflammatory Syndrome (Traps) At Presentation: A Series Of 158 Cases From The Eurofever/Eurotraps International Registry
(2014)
Objective To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international ...
Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis
(Natl Acad Sciences, 1998)
Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ...
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)
The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ...
A Patient Heterozygous for R92Q Mutation with Periodic Fever and Aphthous Stomatitis, Pharyngitis, and Adenitis (Pfapa) Syndrome-Like Phenotype
(Turkish J Pediatrics, 2018)
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old ...
Pharmacokinetics of Colchicine in Pediatric and Adult Patients with Familial Mediterranean Fever
(Biolife Sas, 2012)
This study sought to determine the appropriate starting dose of colchicine in children aged 2 to 4 years with familial Mediterranean fever (FMF) based on steady-state pharmacokinetics in pediatric patients with FMF >= 2 ...
