pediatric rheumatology سال:2015 - دوره:13

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pediatric rheumatology
سال:2015 - دوره:13 - شماره:1

A 56 year old woman with clinically significant p.Arg121Gln-/R92Q TNFRSF1A mutation A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: Diagnosis improvement and interpretation of complex clinical phenotypes A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndrome A case of systemic juvenile idiopathic arthritis with pulmonary hemosiderosis secondary to recurrent macrophage activation syndrome or a new autoinflammatory syndrome? A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations A case with IGG4-related retroperitoneal fibrosis-periaortitis rapidly diagnosed and dramatically responded to steroid treatment A decade of anti-IL-1 therapy in CAPS - a spectrum of efficacy in this spectrum of diseases A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease A randomized study of local anesthesia for pain control during intra-articular corticosteroid injection in children with arthritis A transgenic in vitro cell model for the analysis of proinflammatory effects of naturally occurring genetic variants of caspase-1 Altered expression of IL-10 family cytokines in CRMO result in enhanced inflammasome activation An assessment of variables affecting transition readiness in pediatric rheumatology patients An evaluation of a juvenile idiopathic arthritis retreat for families An optimized whole blood assay measuring expression and activity of NLRP3-,NLRC4 and AIM2-inflammasomes Analysis of employment rate and social status in young adults with childhood-onset rheumatic disease in Catalonia Anti interferon-gamma (IFNγ) monoclonal antibody treatment in a patient carrying an NLRC4 mutation and severe hemophagocytic lymphohistiocytosis Articular involvement in childhood Familial Mediterranean Fever Atypical clinical presentation of a severe Tumor Necrosis Factor Receptor-associated Periodic Syndrome (TRAPS) without mutation in the TNFRSF1A gene and good response to anakinra. Case report of a ten year old girl with fever,skin edema and abdominal pain (AID-registry) Autoimmune hepatitis as a presenting manifestation of mixed connective tissue disease in a child Case report and review of the literature Avascular necrosis in pediatric systemic lupus erythematosus: A brief report and review of the literature Barriers and alternatives to pediatric rheumatology referrals: Survey of general pediatricians in the United States Barriers and facilitators for mental healthcare in pediatric lupus and mixed connective tissue disease: A qualitative study of youth and parent perspectives Canakinumab treatment in patients with active recurrent or chronic TNF-receptor associated syndrome (TRAPS): Efficacy and safety results from a proof of concept study Cardiac tamponade as the initial presentation of systemic lupus erythematosus: A case report and review of the literature Challenging case of Familial Mediterranean Fever and its management Characteristics of a cohort of children with Juvenile Idiopathic Arthritis and JIA-associated Uveitis Characterization of the TNFR1-d2 protein: Implication in TNF receptor associated periodic syndrome (TRAPS)? Childhood scurvy: An unusual cause of refusal to walk in a child Chronic nonbacterial osteomyelitis in children: A retrospective multicenter study Chronic recurrent multifocal osteomyelitis in a patient with Familial Mediterranean Fever Chronic recurrent multifocal osteomyelitis: Follow up Longitudinal case series study for five years with radiographic and scintigraphic imaging perspective and health outcome analysis with EQ5D-5L Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency Clinical and genetic peculiarities of vasculitis associated with Familial Mediterranean fever in Armenian children Cognitive behavioral group intervention for pain and well-being in children with juvenile idiopathic arthritis: A study of feasibility and preliminary efficacy Concurrent pulmonary hemorrhage and deep vein thrombosis in a child with ANCA-associated vasculitis: Case report and review of literature Correlation between serum amyloid-A and serum levels of proinflammatory cytokines in patients with Behçet's disease Cost-effectiveness analysis and prevention effects of ultra-orphan drugs for rare diseases: An in silico model applied to Cryopyrin Associated Periodic Syndromes (CAPS) Could pentraxin-3 be a new marker for subclinical inflammation in familial Mediterranean fever? Cryopyrin associated periodic syndromes (CAPS): Immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome Daily life of CAPS patients treated with canakinumab (Ilaris®) : Data from the French observational study - ENVOL Study Defective removal of ribonucleotides from DNA promotes systemic lupus erythematosus Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism Design and acceptance of Rheumates@Work,a combined internet-based and in person instruction model,an interactive,educational,and cognitive behavioral program for children with juvenile idiopathic arthritis Development and validation of juvenile autoinflammatory disease multidimensional assessment report (JAIMAR) Development of anti-infliximab antibody is associated with reduced efficacy and infusion reaction in Behçet's disease with uveitis Development of coronary artery lesions in indolent kawasaki disease following initial spontaneous defervescence: A retrospective cohort study Development of focal segmental glomerulosclerosis in a patient with Familial Mediterranean Fever resistant to colchicine therapy under treatment with Canakinumab Diagnositic value of pelvic enthesitis on MRI of the sacroiliac joints in enthesitis related arthritis Differential expression of miR-4520a is associated with gain of function mutations in Familial Mediterranean Fever (FMF) Dynamic knee joint function in children with juvenile idiopathic arthritis (JIA) Early detection of sensorineural hearing loss in Muckle-Wells-syndrome Effects of acute exercise on circulating endothelial and progenitor cells in children and adolescents with juvenile idiopathic arthritis and healthy controls: A pilot study Efficacy,safety,and post-vaccination antibody titer data in children with CAPS treated with Canakinumab Endothelial biomarkers in patients with familial Mediterranean fever associated vascular disease and vasculopathy Endothelial progenitor cell levels in juvenile idiopathic arthritis patients; effects of anti-inflammatory therapies Enthesitis as a component of dactylitis in psoriatic juvenile idiopathic arthritis: Histology of an established clinical entity Epidemiology of juvenile idiopathic arthritis in Oman Evaluation of a rheumatology transition clinic Evidence-based diagnosis and treatment of macrophage activation syndrome in systemic juvenile idiopathic arthritis Factors affecting cardiovascular morbidity in young FMF patients: A comparative analysis in colchicine treated FMF patients with and without cardiovascular disease Familial Mediterranean Fever and Human autoinflammatory diseases Familial Mediterranean Fever in childhood: A single center experience French Amyloidosis CAPS study: AA Amyloidosis complicating cryopyrin-associated periodic syndrome: A study on 14 cases and review of 53 cases from literature Gene-expression analysis of adult-onset Still's disease and systemic juvenile idiopathic arthritis is consistent with a continuum of a single disease entity Generation of inducible immortalized bone marrow derived cell lines expressing mutant procaspase-1 C284A on a caspase-1 knock-out background Genetic profiling of autoinflammatory disorders in patients with periodic fever: A prospective study Genotype -phenotype correlation of MEFV mutations in Eastern / Central European population Grey-scale ultrasound findings of lower extremity entheses in healthy children HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis High levels of interferon-gamma (IFNγ) in macrophage activation syndrome (MAS) and CXCL9 levels as a biomarker for IFNγ production in MAS How experts on Autoinflammatory diseases classify Periodic Fever,Aphthous stomatitis,Pharyngitis and Cervical Adenitis (PFAPA): Preliminary results of the Eurofever Delphi survey How experts on autoinflammatory diseases classify inherited periodic fevers: Preliminary results of the Eurofever Delphi Survey How safe it is to treat pregnant FMF patients with Anakinra? Hyper Immunoglobulin D syndrome (HIDS): Understanding what it is like to live with this rare condition Hypohidrotic ectodermal dysplasia and Familial Mediterranean Fever in a child with recurrent episodes of hyperthermia IL-1 inhibition in Muckle-Wells-Syndrome: Withdrawal resulting in rapid deterioration of hearing loss Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Behçet's disease risk Identification of rare genetic variants in Juvenile Idiopathic Arthritis using whole exome sequencing Immune dysregulation in Periodic Fever,Aphthous atomatitis,Pharyngitis,Adenitis (PFAPA) syndrome Immune dysregulation in patients with TRNT1 deficiency In search of human proteins and infectious triggers involved in periodic fever,aphthous stomatitis,pharyngitis and adenitis syndrome Increased soluble phagocytic receptors sMer,sTyro3 and sAxl and reduced phagocytosis in Juvenile-onset Systemic Lupus Erythematosus Interleukin (IL)- 6 inhibition - Follow-up data of the German AID-registry1 Interleukin-1 receptor antagonist treatment revealed active hepatitis B infection in a boy with PAPA syndrome International experience of pregnancy outcomes in auto-inflammatory syndromes treated with Interleukin-1 inhibitors Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): Preliminary genotype-phenotype correlation Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever Investigation of the inflammatory cell migration process in familial Mediterranean fever Is early TMJ involvement in children with juvenile idiopathic arthritis clinically detectable? Clinical examination of the TMJ in comparison with contrast enhanced MRI in patients with juvenile idiopathic arthritis Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients Linear atrophoderma of Moulin: An underrecognized entity Long term efficacy and safety of canakinumab in children with systemic juvenile idiopathic arthritis with and without fever Long-term efficacy of IL-1 blockers in PAPA patients Long-term outcomes of tonsillectomy in children with periodic fever,aphthous stomatitis,pharyngitis,adenitis (PFAPA) syndrome Long-term safety and efficacy of Canakinumab in cryopyrin-associated periodic syndrome (CAPS) patients: Results from beta-confident registry Looking back at the diagnosis of PFAPA: A retrospecitve analysis of a prospective cohort study Loss of function mutation in a mitochondrial chaperone protein leading to dyregulated ROS production,and autoinflammatory disease in a single kindred MAGIC- is it for real? MEFV mutations - therapeutic guides or red herrings? MPO deficiency confers impaired processing of neutrophil reactive oxygen species in a patient with severe CRMO MRI thresholds for discrimination between normal and mild temporomandibular joint involvement in juvenile idiopathic arthritis Mevalonate kinase deficiency: An early onset inflammatory bowel disease? Molecular modeling of complete tertiary structure of pyrin and influence of mutations on it Monocytes and neutrophils in the inflammatory cascade of systemic onset Juvenile Idiopathic Arthritis Monogenetic autoinflammatory syndromes and nephrology - therapy is usefull even in advanced kidney failure Mucocutaneous manifestations in juvenile-onset systemic lupus erythematosus: A review of literature Musculoskeletal pain in schoolchildren across puberty: A 3-year follow-up study NOD2 mosaicism in Blau syndrome Neutralization of Interferon-gamma is efficacious in a mouse model of HLH secondary to chronic inflammation NextGen sequencing (NGS) panel for hereditary recurrent fevers: Mutation spectrum,novel mutations,and evidence for re-classification of common variants based on analysis of >3000 cases from North America No association of IL-12p40 pro1.1 polymorphism with juvenile idiopathic arthritis Pathological and immunological features of autoinflammatory syndrome associated with lymphedema (AISLE) Pathophysiology of juvenile idiopathic arthritis induced pes planovalgus in static and walking condition-A functional view using 3d gait analysis Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations Post-streptococcal acute glomerulonephritis complicated by gouty arthritis: A case report Practice patterns and approach to kidney biopsy in lupus: A collaboration of the Midwest pediatric nephrology consortium and the childhood arthritis and rheumatology research alliance Prediction of Methotrexate Intolerance in Juvenile Idiopathic Arthritis: A prospective,observational cohort study Predictors of arthritis in pediatric patients with lupus Preliminary experience using milnacipran in patients with juvenile fibromyalgia: Lessons from a clinical trial program Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) Prevalence of CECR1 mutations in pediatric patients with polyarteritis nodosa,livedo reticularis and/or stroke Prevalence of polymorphisms of the genes responsible for auto-inflammatory diseases among 236 patients with recurrent fever in a rheumatology institute in Japan Primary complement and antibody deficiencies in autoimmune rheumatologic diseases with juvenile onset: A prospective study at two centers Pulmonary hypertension in familial Mediterranean fever: Consequence or coincidence? Quality of life in children with familial Mediterranean fever Quantitative evaluation of a pediatric rheumatology transition program Reduced physical activity in children and adolescents with Juvenile Idiopathic Arthritis despite satisfactory control of inflammation Refractory epilepsy responsive to nonspecific immunossupression: Autoimmune or auto inflammatory disease? A case report and review of literature Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever Review article: BK virus in systemic lupus erythematosus Role of polymorphonucleates in the pathogenesis of systemic juvenile idiopathic arthritis and Still's disease: A proof of concept study S100A12 as diagnostic tool in the differential diagnosis of sJIA associated MAS vs. hereditary or acquired HLH Safe and effective canakinumab-treatment of neonatal onset multisystem inflammatory disease (NOMID)/ chronic infantile neurologic cutaneous and articular (CINCA) Safety and efficacy of tocilizumab in children with systemic juvenile idiopathic arthritis Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome Sedation methods for intra-articular corticosteroid injections in Juvenile Idiopathic Arthritis: A review Serum biomarkers for the diagnosis of chronic recurrent multifocal osteomyelitis (CRMO) Severe autoinflammatory disease caused by mutation in a gene controlling actin cytoskeletal dynamics and cure with allogeneic haematopoetic stem cell transplantation Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS) Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene Spontaneous Type I IFN response in SAMHD1-deficient mice requires both,functional intracellular RNA and DNA sensing pathways Stratification of patients with autoinflammatory phenotypes by interferon (IFN) score suggests a new group of IFN mediated autoinflammatory diseases with overlapping clinical phenotypes Studying patients with autoinflammatory diseases: The past,present,and a perspective for the future Successful control of juvenile dermatomyositis-associated macrophage activation syndrome and interstitial pneumonia: Distinct kinetics of interleukin-6 and -18 levels Successful treatment with tocilizumab every 4 weeks of a low disease activity group who achieve a drug-free remission in patients with systemic-onset juvenile idiopathic arthritis Sweet's syndrome in a patient with compound heterozygous mutations in the Mediterranean fever gene (MEFV) Technical tips to perform safe and effective Ultrasound Guided steroid joint injections in children Temporomandibular joint involvement in juvenile idiopathic arthritis: Reliability and validity of a screening protocol for the rheumatologist Temporomandibular joint steroid injections in patients with juvenile idiopathic arthritis: An observational pilot study on the long-term effect on signs and symptoms The IL-1 inhibitor Canakinumab for Familial Mediterranean Fever: The Greek experience in 12 patients The RaDiCEA Project: Cost of illness (COI) analysis applied to Cryopyrin Associated Periodic Syndromes (CAPS) The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: A cohort study The experience of taking methotrexate for juvenile idiopathic arthritis: Results of a cross-sectional survey with children and young people The intracellular signalling pathway signature (the signalome) in PBMCs in the presence of a common TRAPS-associated genetic variant,TNFRSF1A p.(Arg121Gln) (legacy p.R92Q) is distinct from normal PBMCs and from other pathogenic variants The phenotypic variability of PAPA syndrome: Evidence from the Eurofever Registry Toll like receptor 2 is overexpressed in FMF patients during attacks and inhibited by colchicine treatment Tracing cellular sources of pathogenic type I-interferon in the TREX1-/- mouse model of lupus like-disease Tuberculosis in pediatric patients treated with anti-TNFα drugs: A cohort study Turkish Pediatric Rheumatology Society consensus statements on systemic onset juvenile idiopathic arthritis in Turkey Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology Unified modeling of Familial Mediterranean Fever and Cryopyrin Associated Periodic Syndromes Unusual onset of a case of chronic recurrent multifocal osteomyelitis Update on CECR1 molecular diagnostics: New mutations in the deficiency of ADA2 (DADA2) and the North American polyarteritis nodosa (PAN) cohort Validity and reliability of medication adherence scale in FMF Vasculitis associated with familial Mediterranean fever: A study on 16 french adult cases Vitamin D-update for the pediatric rheumatologists When flexibility is not necessarily a virtue: A review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA Whole exome sequencing in systemic juvenile idiopathic arthritis Whole-Body MRI versus bone scintigraphy: Which is the best diagnostic tool in patients with chronic recurrent multifocal osteomyelitis (CRMO)?