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Systemic juvenile idiopathic arthritis

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https://www.readbyqxmd.com/read/28095869/macrophage-activation-syndrome-different-mechanisms-leading-to-a-one-clinical-syndrome
#1
REVIEW
Claudia Bracaglia, Giusi Prencipe, Fabrizio De Benedetti
BACKGROUND: Macrophage activation syndrome (MAS) is a severe complication of rheumatic disease in childhood, particularly in systemic Juvenile Idiopathic Arthritis (sJIA). It is characterize by an uncontrolled activation and proliferation of T lymphocytes and macrophages. MAIN CONTENT: MAS is currently classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH). The reason is that MAS shares clinical and laboratory features with primary genetic HLH (pHLH)...
January 17, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28094589/leucine-rich-%C3%AE-2-glycoprotein-as-the-acute-phase-reactant-to-detect-systemic-juvenile-idiopathic-arthritis-disease-activity-during-anti-interleukin-6-blockade-therapy-a-case-series
#2
Masaki Shimizu, Yasuo Nakagishi, Natsumi Inoue, Mao Mizuta, Akihiro Yachie
OBJECTIVES: To assess the role of leucine-rich α2-glycoprotein (LRG) as a biomarker for monitoring systemic juvenile idiopathic arthritis (s-JIA) disease activity during interleukin (IL)-6 blockade treatment. METHODS: We serially measured serum LRG levels in four s-JIA patients treated with the anti-IL-6 receptor antibody tocilizumab and determined the correlation between clinical symptoms and other inflammatory biomarkers and proinflammatory cytokines, including IL-18, IL-6, neopterin, and tumor necrosis factor-α receptor type I and II...
January 17, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28088248/the-spectrum-of-rheumatic-in-patient-diagnoses-at-a-pediatric-hospital-in-kenya
#3
Angela Migowa, Inés Colmegna, Carol Hitchon, Eugene Were, Evelyn Ng'ang'a, Thomas Ngwiri, John Wachira, Sasha Bernatsky, Rosie Scuccimarri
BACKGROUND: Pediatric rheumatic diseases are chronic illnesses that can cause considerable disease burden to children and their families. There is limited epidemiologic data on these diseases in East Africa. The aim of this study was to assess the spectrum of pediatric rheumatic diagnoses in an in-patient setting and determine the accuracy of ICD-10 codes in identifying these conditions. METHODS: Medical records from Gertrude's Children's Hospital in Kenya were reviewed for patients diagnosed with "diseases of the musculoskeletal system and connective tissue" as per ICD-10 diagnostic codes assigned at discharge between January and December 2011...
January 14, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28056736/investigation-of-associations-between-autoimmunity-associated-variants-in-pdcd1-and-juvenile-idiopathic-arthritis
#4
Christina I Tejeda, K Alaine Broadaway, Milton R Brown, Lori A Ponder, Michael J Ombrello, Mina Rohani Pichavant, Gabriel Wang, Sheila T Angeles-Han, Aimee O Hersh, John F Bohnsack, Karen N Conneely, Michael P Epstein, Sampath Prahalad
PURPOSE: Variants in the gene encoding Programmed Cell Death-1 (PDCD1) have been associated with susceptibility to Systemic Lupus Erythematosus and other autoimmune diseases. Given that clinically distinct autoimmune phenotypes share common genetic susceptibility factors, variants in PDCD-1 were tested for a possible association with Juvenile Idiopathic Arthritis (JIA). METHODS: Four single nucleotide polymorphisms (SNPS) in the PDCD1 gene were genotyped and analyzed: rs10204525, rs7568402, rs7421861 and rs11568821 in 834 cases and 855 self-identified Caucasian controls...
January 4, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28025136/cd3-cd56-natural-killer-t-cell-activity-in-children-with-different-forms-of-juvenile-idiopathic-arthritis-and-the-influence-of-etanercept-treatment-on-polyarticular-subgroup
#5
Juan Zhou, Yuan Ding, Yu Zhang, Ye Feng, Xuemei Tang, Xiaodong Zhao
Juvenile idiopathic arthritis (JIA) has three major onset types with widely varying clinical features. We assessed the natural killer T (NKT) cell function in patients with different JIA subtypes, and found systemic patients exhibited lower NKT cell counts, perforin and granzyme B expression, while the pauciarticular and polyarticular patients displayed higher perforin and granzyme B expression as compared with the controls. The synovial fluid had more NKT cells with higher levels of perforin, granzyme B, and tumour necrosis factor (TNF)-α than peripheral cells...
December 24, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27999545/il-1-inhibition-in-systemic-juvenile-idiopathic-arthritis
#6
REVIEW
Gabriella Giancane, Francesca Minoia, Sergio Davì, Giulia Bracciolini, Alessandro Consolaro, Angelo Ravelli
Systemic juvenile idiopathic arthritis (sJIA) is the form of childhood arthritis whose treatment is most challenging. The demonstration of the prominent involvement of interleukin (IL)-1 in disease pathogenesis has provided the rationale for the treatment with biologic medications that antagonize this cytokine. The three IL-1 blockers that have been tested so far (anakinra, canakinumab, and rilonacept) have all been proven effective and safe, although only canakinumab is currently approved for use in sJIA. The studies on IL-1 inhibition in sJIA published in the past few years suggest that children with fewer affected joints, higher neutrophil count, younger age at disease onset, shorter disease duration, or, possibly, higher ferritin level may respond better to anti-IL-1 treatment...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27998952/fine-mapping-the-mhc-locus-in-juvenile-idiopathic-arthritis-jia-reveals-genetic-heterogeneity-corresponding-to-distinct-adult-inflammatory-arthritic-diseases
#7
A Hinks, J Bowes, J Cobb, H C Ainsworth, M C Marion, M E Comeau, M Sudman, B Han, M L Becker, J F Bohnsack, P I W de Bakker, J P Haas, M Hazen, D J Lovell, P A Nigrovic, E Nordal, M Punnaro, A M Rosenberg, M Rygg, S L Smith, C A Wise, V Videm, L R Wedderburn, A Yarwood, R S M Yeung, S Prahalad, C D Langefeld, S Raychaudhuri, S D Thompson, W Thomson
OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, comprising seven categories. Genetic data could potentially be used to help redefine JIA categories and improve the current classification system. The human leucocyte antigen (HLA) region is strongly associated with JIA. Fine-mapping of the region was performed to look for similarities and differences in HLA associations between the JIA categories and define correspondences with adult inflammatory arthritides...
December 20, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27993144/disease-status-reasons-for-discontinuation-and-adverse-events-in-1038-italian-children-with-juvenile-idiopathic-arthritis-treated-with-etanercept
#8
Sara Verazza, Sergio Davì, Alessandro Consolaro, Francesca Bovis, Antonella Insalaco, Silvia Magni-Manzoni, Rebecca Nicolai, Denise Pires Marafon, Fabrizio De Benedetti, Valeria Gerloni, Irene Pontikaki, Francesca Rovelli, Rolando Cimaz, Achille Marino, Francesco Zulian, Giorgia Martini, Serena Pastore, Chiara Sandrin, Fabrizia Corona, Marta Torcoletti, Giovanni Conti, Claudia Fede, Patrizia Barone, Marco Cattalini, Elisabetta Cortis, Luciana Breda, Alma Nunzia Olivieri, Adele Civino, Rosanna Podda, Donato Rigante, Francesco La Torre, Gianfranco D'Angelo, Mauro Jorini, Romina Gallizzi, Maria Cristina Maggio, Rita Consolini, Alessandro De Fanti, Valentina Muratore, Maria Giannina Alpigiani, Nicolino Ruperto, Alberto Martini, Angelo Ravelli
BACKGROUND: Data from routine clinical practice are needed to further define the efficacy and safety of biologic medications in children with juvenile idiopathic arthritis (JIA). The aim of this analysis was to investigate the disease status, reasons for discontinuation and adverse events in Italian JIA patients treated with etanercept (ETN). METHODS: In 2013, all centers of the Italian Pediatric Rheumatology Study Group were asked to make a census of patients given ETN after January 2000...
December 20, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27974106/fulminant-bilateral-papilloedema-during-low-dose-steroid-taper-in-a-child-with-systemic-idiopathic-arthritis-treated-with-tocilizumab
#9
Lulu Burstzyn, Simon Levin, Brian Rotenberg, Tamara Van Hooren, Andrew Leung, Roberta Berard, Daniela S Ardelean
Systemic juvenile idiopathic arthritis (SJIA) is one of the most severe forms of arthritis that affects children younger than 16 years of age at onset. SJIA often requires corticosteroids to control the inflammation. However, long-term corticosteroid use may have adverse effects, including intracranial hypertension (IH). Biologic therapies have been used as corticosteroid sparing agents. We report the first case of a child with steroid-dependent SJIA treated with tocilizumab, an IL-6 receptor monoclonal antibody, who developed fulminant IH, bilateral papilloedema and vision loss when oral prednisone was weaned from 2 to 1 mg per day...
December 14, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27965258/a-new-autoinflammatory-and-autoimmune-syndrome-associated-with-nlrp1-mutations-naiad-nlrp1-associated-autoinflammation-with-arthritis-and-dyskeratosis
#10
Sylvie Grandemange, Elodie Sanchez, Pascale Louis-Plence, Frédéric Tran Mau-Them, Didier Bessis, Christine Coubes, Eric Frouin, Marieke Seyger, Manon Girard, Jacques Puechberty, Valérie Costes, Michel Rodière, Aurélia Carbasse, Eric Jeziorski, Pierre Portales, Guillaume Sarrabay, Michel Mondain, Christian Jorgensen, Florence Apparailly, Esther Hoppenreijs, Isabelle Touitou, David Geneviève
OBJECTIVES: Inflammasomes are multiprotein complexes that sense pathogens and trigger biological mechanisms to control infection. Nucleotide-binding oligomerisation domain-like receptor (NLR) containing a PYRIN domain 1 (NLRP1), NLRP3 and NLRC4 plays a key role in this innate immune system by directly assembling in inflammasomes and regulating inflammation. Mutations in NLRP3 and NLRC4 are linked to hereditary autoinflammatory diseases, whereas polymorphisms in NLRP1 are associated with autoimmune disorders such as vitiligo and rheumatoid arthritis...
December 13, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27959965/functional-analyses-of-the-crohn-s-disease-risk-gene-lacc1
#11
Ghazaleh Assadi, Liselotte Vesterlund, Ferdinando Bonfiglio, Luca Mazzurana, Lina Cordeddu, Danika Schepis, Jenny Mjösberg, Sabrina Ruhrmann, Alessia Fabbri, Vladana Vukojevic, Piergiorgio Percipalle, Florian A Salomons, Jurga Laurencikiene, Leif Törkvist, Jonas Halfvarson, Mauro D'Amato
BACKGROUND: Genetic variation in the Laccase (multicopper oxidoreductase) domain-containing 1 (LACC1) gene has been shown to affect the risk of Crohn's disease, leprosy and, more recently, ulcerative colitis and juvenile idiopathic arthritis. LACC1 function appears to promote fatty-acid oxidation, with concomitant inflammasome activation, reactive oxygen species production, and anti-bacterial responses in macrophages. We sought to contribute to elucidating LACC1 biological function by extensive characterization of its expression in human tissues and cells, and through preliminary analyses of the regulatory mechanisms driving such expression...
2016: PloS One
https://www.readbyqxmd.com/read/27940635/young-people-s-experiences-of-persistent-musculoskeletal-pain-needs-gaps-and-perceptions-about-the-role-of-digital-technologies-to-support-their-co-care-a-qualitative-study
#12
Helen Slater, Joanne E Jordan, Jason Chua, Robert Schütze, John D Wark, Andrew M Briggs
OBJECTIVE: To investigate young people's experiences of persistent musculoskeletal pain, including care needs and current service gaps as well as perceptions about the role of digital technologies to support their co-care. METHODS: A qualitative study employing two independent data collection modes: in-depth individual semistructured interviews and focus groups. SETTING: Community settings throughout Australia. PARTICIPANTS: Participants were included if they had experienced persistent musculoskeletal pain of >3-month duration with an average of ≥3 on the visual analogue scale over the preceding 3 months, including non-specific conditions (eg, low back pain) and specific conditions (eg, juvenile idiopathic arthritis and other systemic arthritides), with/without pre-existing or current diagnosed mental health conditions...
December 9, 2016: BMJ Open
https://www.readbyqxmd.com/read/27927641/genetic-architecture-distinguishes-systemic-juvenile-idiopathic-arthritis-from-other-forms-of-juvenile-idiopathic-arthritis-clinical-and-therapeutic-implications
#13
Michael J Ombrello, Victoria L Arthur, Elaine F Remmers, Anne Hinks, Ioanna Tachmazidou, Alexei A Grom, Dirk Foell, Alberto Martini, Marco Gattorno, Seza Özen, Sampath Prahalad, Andrew S Zeft, John F Bohnsack, Norman T Ilowite, Elizabeth D Mellins, Ricardo Russo, Claudio Len, Maria Odete E Hilario, Sheila Oliveira, Rae S M Yeung, Alan M Rosenberg, Lucy R Wedderburn, Jordi Anton, Johannes-Peter Haas, Angela Rosen-Wolff, Kirsten Minden, Klaus Tenbrock, Erkan Demirkaya, Joanna Cobb, Elizabeth Baskin, Sara Signa, Emily Shuldiner, Richard H Duerr, Jean-Paul Achkar, M Ilyas Kamboh, Kenneth M Kaufman, Leah C Kottyan, Dalila Pinto, Stephen W Scherer, Marta E Alarcón-Riquelme, Elisa Docampo, Xavier Estivill, Ahmet Gül, Carl D Langefeld, Susan Thompson, Eleftheria Zeggini, Daniel L Kastner, Patricia Woo, Wendy Thomson
OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of conditions unified by the presence of chronic childhood arthritis without an identifiable cause. Systemic JIA (sJIA) is a rare form of JIA characterised by systemic inflammation. sJIA is distinguished from other forms of JIA by unique clinical features and treatment responses that are similar to autoinflammatory diseases. However, approximately half of children with sJIA develop destructive, long-standing arthritis that appears similar to other forms of JIA...
December 7, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27914689/efficacy-of-biologic-therapy-across-individual-juvenile-idiopathic-arthritis-subtypes-a-systematic-review
#14
REVIEW
Rebecca Davies, Danielle Gaynor, Kimme L Hyrich, Clare E Pain
OBJECTIVE: To determine the efficacy of differing biologic therapies amongst individual juvenile idiopathic arthritis (JIA) subtypes rather than JIA overall. METHODS: A systematic literature review was conducted between January 1975 and November 2014. Studies included were randomised controlled trials, controlled trials, non-randomised prospective studies or case-control studies. Subjects were required to have a diagnosis of JIA and were ≤20 years of age at study entry...
November 1, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/27914688/systematic-review-of-rheumatic-disease-epidemiology-in-the-indigenous-populations-of-canada-the-united-states-australia-and-new-zealand
#15
REVIEW
Cairistin McDougall, Kelle Hurd, Cheryl Barnabe
OBJECTIVE: Past publications have highlighted an excess rheumatic disease incidence and prevalence in indigenous populations of Canada (First Nations, Inuit, and Métis), and the United States of America (Alaska Native and American Indian). We have updated these reviews and expanded the scope to include New Zealand (Maori) and Australia (Aborigine) indigenous populations. METHODS: We performed a broad search using medical literature databases, indigenous specific online indexes, and government websites to identify publications reporting the incidence and/or prevalence of arthritis conditions (rheumatoid arthritis, spondyloarthropathies, gout, osteoarthritis, systemic autoimmune rheumatic diseases, and juvenile idiopathic arthritis) in the indigenous populations of Canada, America, New Zealand, and Australia...
November 1, 2016: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/27914593/systemic-and-localized-infection-by-candida-species-in-patients-with-rheumatic-diseases-receiving-anti-tnf-therapy
#16
Nadia E Aikawa, Daniela T A Rosa, Gilda M B Del Negro, Julio C B Moraes, Ana C M Ribeiro, Carla Gonçalves Saad, Clovis A Silva, Eloisa Bonfá
OBJECTIVE: To evaluate the prevalence of systemic and localized infection by Candida species and its possible association with demographic, clinical and laboratory manifestations and therapy in patients with rheumatic diseases taking TNF blockers. METHODS: Consecutive patients with rheumatic diseases receiving anti-TNF agents were included. The following risk factors up to four weeks prior to the study were analyzed: use of antibiotics, immunosuppressant drugs, hospitalization and invasive procedures...
November 2016: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/27913986/establishing-clinical-meaning-and-defining-important-differences-for-patient-reported-outcomes-measurement-information-system-promis-%C3%A2-measures-in-juvenile-idiopathic-arthritis-using-standard-setting-with-patients-parents-and-providers
#17
Esi M Morgan, Constance A Mara, Bin Huang, Kimberly Barnett, Adam C Carle, Jennifer E Farrell, Karon F Cook
BACKGROUND: Patient-Reported Outcomes Measurement Information System (PROMIS) measures are used increasingly in clinical care. However, for juvenile idiopathic arthritis (JIA), scores lack a framework for interpretation of clinical severity, and minimally important differences (MID) have not been established, which are necessary to evaluate the importance of change. METHODS: We identified clinical severity thresholds for pediatric PROMIS measures of mobility, upper extremity function (UE), fatigue, and pain interference working with adolescents with JIA, parents of JIA patients, and clinicians, using a standard setting methodology modified from educational testing...
December 2, 2016: Quality of Life Research
https://www.readbyqxmd.com/read/27906774/lessons-from-characterization-and-treatment-of-the-autoinflammatory-syndromes
#18
Ivona Aksentijevich, Michael F McDermott
PURPOSE OF REVIEW: The list of genes associated with systemic inflammatory diseases has been steadily growing because of the explosion of new genomic technologies. Significant advances in the past year have deepened our understanding of the molecular mechanisms linked to inflammation and elucidated insights on the efficacy of specific therapies for these and related conditions. We review the molecular pathogenesis of four recently characterized monogenic autoinflammatory diseases: haploinsufficiency of A20, otulipenia, a severe form of pyrin-associated disease, and a monogenic form of systemic juvenile idiopathic arthritis...
November 30, 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27900348/implementation-of-musculoskeletal-ultrasonography-in-detection-of-early-juvenile-idiopathic-arthritis
#19
Ayman F Darwish, Faten M Ismael, Abdou Ell-Laban, Ahmed Hamed, Moustafa Abdel Kader, Ashraf Osman
AIM: To determine whether early clinical, laboratory and musculoskeletal ultrasound (MSUS) characteristics can be used as early detectors of juvenile idiopathic arthritis. PATIENTS AND METHODS: Forty (40) patients with juvenile idiopathic arthritis (JIA) diagnosed according to the ILAR criteria [1] and 20 healthy control children. All patients were subjected to the following assessment at base line and at follow up after 6 months: Clinical evaluation, MSUS examination and laboratory evaluation...
2016: European Journal of Radiology Open
https://www.readbyqxmd.com/read/27881174/juvenile-arthritis-caused-by-a-novel-famin-lacc1-mutation-in-two-children-with-systemic-and-extended-oligoarticular-course
#20
Tilmann Kallinich, Anne Thorwarth, Sae-Lim von Stuckrad, Angela Rösen-Wolff, Hella Luksch, Patrick Hundsdoerfer, Kirsten Minden, Peter Krawitz
BACKGROUND: The pathophysiological origin of juvenile idiopathic arthritis (JIA) is largely unknown. However, individuals with presumably pathogenic mutations in FAMIN have been reported, associating this gene with a rare subtype of this disorder. FAMIN, that is formerly also referred to as LACC1 or C13orf31, has recently been shown to play a crucial role in immune-metabolic functions and is involved in regulation of inflammasome activation and promotion of ROS production. CASE PRESENTATION: We describe two siblings with severe familial forms of juvenile arthritis in which whole-exome-sequencing revealed a novel homozygous frameshift mutation (NM_153218...
November 24, 2016: Pediatric Rheumatology Online Journal
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