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https://www.readbyqxmd.com/read/27906774/lessons-from-characterization-and-treatment-of-the-autoinflammatory-syndromes
#1
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
#2
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/27894617/pathway-analysis-based-on-monte-carlo-cross-validation-in-polyarticular-juvenile-idiopathic-arthritis
#3
Shunhua Lin, Yuanji Wang, Shunmei Mu, Junxi Zhang, Fangchang Yuan, Kang Sun
INTRODUCTION: Juvenile idiopathic arthritis (JIA) is a common chronic disease with onset before the 16 years old in a child. Polyarticular JIA has been reported as the main form of JIA in several locations. Until now, understanding of the genetic basis of JIA is incomplete. The purpose of this study was to identify pathway pairs of great potential functional relevance in the progression of polyarticular JIA. MATERIALS AND METHODS: Microarray data of 59 peripheral blood samples from healthy children and 61 samples from polyarticular JIA were transformed to gene expression data...
May 2, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27881174/juvenile-arthritis-caused-by-a-novel-famin-lacc1-mutation-in-two-children-with-systemic-and-extended-oligoarticular-course
#4
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
https://www.readbyqxmd.com/read/27881171/assessment-of-left-atrial-mechanical-functions-and-atrial-electromechanical-delay-in-juvenile-idiopathic-arthritis-by-tissue-doppler-echocardiography
#5
Azza Z El Eraky, Nesrin M Handoka, Mona Sayed Ghaly, Samah Ismail Nasef, Nahed A Eldahshan, Ahmed M Ibrahim, Sherein Shalaby
BACKGROUND: Juvenile idiopathic arthritis (JIA) is a systemic chronic inflammatory disease. Studies using tissue Doppler imaging (TDI) for the evaluation of cardiac functions of children with JIA are limited. Thus, this study was conducted to evaluate Left ventricular function, left atrial mechanical functions and atrial electromechanical delay in JIA. METHODS: This study was carried out as a across sectional study. A total of 34 patients with active JIA and 34 controls were included...
November 24, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27881144/comparison-of-treatment-response-remission-rate-and-drug-adherence-in-polyarticular-juvenile-idiopathic-arthritis-patients-treated-with-etanercept-adalimumab-or-tocilizumab
#6
Gerd Horneff, Ariane Klein, Jens Klotsche, Kirsten Minden, Hans-Iko Huppertz, Frank Weller-Heinemann, Jasmin Kuemmerle-Deschner, Johannes-Peter Haas, Anton Hospach
BACKGROUND: Treatment response, remission rates and compliance in patients with polyarticular juvenile idiopathic arthritis (polyJIA) treated with adalimumab, etanercept, or tocilizumab were analyzed in clinical practice. METHODS: Data collected in the German BIKER registry were analyzed in patients with polyJIA who started treatment with approved biologics, adalimumab, etanercept or tocilizumab, from 2011 to 2015. Baseline patient characteristics, treatment response, safety and drug survival were compared...
November 24, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27878339/multifocal-tenosynovial-giant-cell-tumors-in-a-child-with-noonan-syndrome
#7
Arthur B Meyers, Agboola O Awomolo, Sara Szabo
Noonan syndrome is a genetic disorder with variable expression of distinctive facial features, webbed neck, chest deformity, short stature, cryptorchidism and congenital heart disease. The association of Noonan syndrome and giant cell granulomas of the mandible is widely reported. However, Noonan syndrome may also be associated with single or multifocal tenosynovial giant cell tumors, also referred to as pigmented villonodular synovitis. We report a child with Noonan syndrome, giant cell granulomas of the mandible and synovial and tenosynovial giant cell tumors involving multiple joints and tendon sheaths who was initially misdiagnosed with juvenile idiopathic arthritis...
November 23, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27870773/tofacitinib-response-in-juvenile-idiopathic-arthritis-jia-and-collagenous-colitis
#8
Bryon Tseng, Arash Amighi, Kara Bradford, Hanlin L Wang, Terri E Getzug, Ernest Brahn
No abstract text is available yet for this article.
December 2016: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/27866247/identification-of-potential-peripheral-blood-diagnostic-biomarkers-for-patients-with-juvenile-idiopathic-arthritis-by-bioinformatics-analysis
#9
Zhi-Qiang Tu, Hai-Yan Xue, Wei Chen, Lan-Fang Cao, Wei-Qi Zhang
Juvenile idiopathic arthritis (JIA) is common childhood rheumatic disease harming children health. However, there is still lack of effective biomarkers for diagnosis JIA at early onset. We aim to construct a classification model to predict JIA disease. The peripheral blood gene expression profile data of JIA were downloaded from GEO database. We compared and analyzed differentially expressed genes (DEGs) between different JIA samples through Pearson's correlation coefficient method and unsupervised clustering analysis...
November 19, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27861762/gut-microbiome-in-children-with-enthesitis-related-arthritis-in-a-developing-country-and-the-effect-of-probiotic-administration
#10
Amita Aggarwal, Aditya N Sarangi, Priyanka Gaur, Anuj Shukla, Rakesh Aggarwal
In Asia, enthesitis-related arthritis (ERA) is the most-frequent category of juvenile idiopathic arthritis. ERA has a strong association with HLA-B27 and subclinical gut inflammation. In a HLA-B27 transgenic rat model, presence of Bacteroides bacteria in the gut appears to cause spondyloarthropathy (SpA). Thus, we studied gut microbiota in children with ERA. Stool specimens from 33 patients with ERA and 14 age-matched healthy controls were studied; none had any gastrointestinal symptom, or had received a drug known to affect gut motility or microbiota in the preceding 6 weeks...
November 9, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27858841/marshall-syndrome-in-a-young-child-a-reality-case-report
#11
Laura Mihaela Trandafir, Madalina Ionela Chiriac, Smaranda Diaconescu, Ileana Ioniuc, Ingrith Miron, Daniel Rusu
BACKGROUND: Recurrent fever syndrome, known as the Marshall syndrome (MS), is a clinical entity that includes several clinical features, such as: fever (39-40°C) that occurs repeatedly at variable intervals (3-8 weeks) and in episodes of 3 to 6 days, cervical adenopathy, pharyngitis, and aphthous stomatitis. The diagnosis of MS is one of exclusions; laboratory data is nonspecific and no abnormalities correlated with MS have been detected thus far. METHODS: The authors report the case of a 2-year-old girl admitted to a tertiary pediatric center for repeated episodes of fever with aphthous stomatitis and laterocervical adenopathy...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27852543/screening-of-patients-with-juvenile-idiopathic-arthritis-and-those-with-rheumatoid-arthritis-for-celiac-disease-in-southwestern-iran
#12
Mozhgan Moghtaderi, Shirin Farjadian, Elham Aflaki, Naser Honar, Soheila Alyasin, Maryam Babaei
BACKGROUND/AIMS: Celiac disease (CD) is a common enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. It is frequently found in conjunction with other autoimmune diseases. The purpose of this study was to investigate the prevalence of CD in patients with juvenile idiopathic arthritis (JIA) and those with rheumatoid arthritis (RA) in southwestern Iran. MATERIALS AND METHODS: A total of 53 children with JIA and 55 adults with RA were enrolled...
November 2016: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/27849614/epipolymorphisms-associated-with-the-clinical-outcome-of-autoimmune-arthritis-affect-cd4-t-cell-activation-pathways
#13
Roberto Spreafico, Maura Rossetti, John W Whitaker, Wei Wang, Daniel J Lovell, Salvatore Albani
Multifactorial diseases, including autoimmune juvenile idiopathic arthritis (JIA), result from a complex interplay between genetics and environment. Epigenetic mechanisms are believed to integrate such gene-environment interactions, fine-tuning gene expression, and possibly contributing to immune system dysregulation. Although anti-TNF therapy has strongly increased JIA remission rates, it is not curative and up to 80% of patients flare upon treatment withdrawal. Thus, a crucial unmet medical and scientific need is to understand the immunological mechanisms associated with remission or flare to inform clinical decisions...
November 14, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27847517/association-between-air-pollution-and-the-development-of-rheumatic-disease-a-systematic-review
#14
REVIEW
Gavin Sun, Glen Hazlewood, Sasha Bernatsky, Gilaad G Kaplan, Bertus Eksteen, Cheryl Barnabe
Objective. Environmental risk factors, such as air pollution, have been studied in relation to the risk of development of rheumatic diseases. We performed a systematic literature review to summarize the existing knowledge. Methods. MEDLINE (1946 to September 2016) and EMBASE (1980 to 2016, week 37) databases were searched using MeSH terms and keywords to identify cohort, case-control, and case cross-over studies reporting risk estimates for the development of select rheumatic diseases in relation to exposure of measured air pollutants (n = 8)...
2016: International Journal of Rheumatology
https://www.readbyqxmd.com/read/27846755/primary-varicella-infection-in-children-with-systemic-juvenile-idiopathic-arthritis-under-tocilizumab-therapy
#15
Tomo Nozawa, Kenichi Nishimura, Asami Ohara, Ryoki Hara, Shuichi Ito
We report the clinical course and outcome of primary varicella infection in six children with systemic juvenile idiopathic arthritis (sJIA) receiving tocilizumab. None had disseminated or fatal varicella infection, but one patient developed macrophage activation syndrome (MAS) and another had an arthritis relapse. All patients had a significant elevation of serum IL-6 levels, and the two children who developed MAS or arthritis relapse showed high serum IL-18 levels, which could cause a sJIA flare-up.
November 16, 2016: Modern Rheumatology
https://www.readbyqxmd.com/read/27843575/effectiveness-and-safety-of-tnf-inhibitors-in-adults-with-juvenile-idiopathic-arthritis
#16
Lianne Kearsley-Fleet, Flora McErlane, Helen E Foster, Mark Lunt, Kath D Watson, Deborah P M Symmons, Kimme L Hyrich
INTRODUCTION: Many children with juvenile idiopathic arthritis (JIA) continue to have active disease into adulthood. Adults with JIA are a heterogeneous group, and the effects of tumour necrosis factor inhibitor (TNFi) therapies are not well described. This analysis aims to describe treatment outcomes among patients with JIA starting TNFi for the first time in adulthood. METHODS: Patients with arthritis onset <16 years starting their first TNFi therapy were identified from the British Society of Rheumatology Biologics Register...
2016: RMD Open
https://www.readbyqxmd.com/read/27843371/the-family-journey-to-diagnosis-with-systemic-juvenile-idiopathic-arthritis-a-cross-sectional-study-of-the-changing-social-media-presence
#17
Renee F Modica, Kathleen Graham Lomax, Pamela Batzel, Leah Shapardanis, Kimberly Compton Katzer, Melissa E Elder
BACKGROUND: Children with systemic juvenile idiopathic arthritis (SJIA) often encounter a delay between symptom onset and disease diagnosis, partly due to the broad differential of fever and lack of symptom recognition by providers. Families often seek multiple medical opinions and post on social media about their frustrations. This linguistic analysis observed the changing language patterns and social media posting behaviors of parents in the time leading to, during, and after SJIA diagnosis...
2016: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/27835952/lipoprotein-cholesterol-fractions-are-related-to-markers-of-inflammation-in-children-and-adolescents-with-juvenile-idiopathic-arthritis-a-cross-sectional-study
#18
Anna-Helene Bohr, Freddy Karup Pedersen, Claus Henrik Nielsen, Klaus Gottlob Müller
BACKGROUND: The purpose of the study is to determine levels of total cholesterol (TC), low-density, and high-density lipoprotein fractions of cholesterol (LDLc and HDLc), in patients with juvenile idiopathic arthritis (JIA), and relate those to disease activity, overweight, and physical activity (PA), testing the hypothesis that the levels of cholesterol fractions are associated with inflammation as well as with overweight and low PA. METHODS: Two hundred ten patients with JIA were included in this descriptive cross-sectional study...
November 11, 2016: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/27833598/alteration-of-fecal-microbiota-profiles-in-juvenile-idiopathic-arthritis-associations-with-hla-b27-allele-and-disease-status
#19
Monica Di Paola, Duccio Cavalieri, Davide Albanese, Maddalena Sordo, Massimo Pindo, Claudio Donati, Ilaria Pagnini, Teresa Giani, Gabriele Simonini, Alessia Paladini, Paolo Lionetti, Carlotta De Filippo, Rolando Cimaz
Alteration of gut microbiota is involved in several chronic inflammatory and autoimmune diseases, including rheumatoid arthritis, and gut microbial "pro-arthritogenic" profiles have been hypothesized. Intestinal inflammation may be involved in spondyloarthropathies and in a subset of patients affected by Juvenile Idiopathic Arthritis (JIA), the most common chronic rheumatic disease of childhood. We compared the fecal microbiota composition of JIA patients with healthy subjects (HS), evaluating differences in microbial profiles between sub-categories of JIA, such as enthesitis-related arthritis (JIA-ERA), in which inflammation of entheses occurs, and polyarticular JIA, non-enthesitis related arthritis (JIA-nERA)...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27830512/the-validation-of-a-computer-adaptive-test-cat-for-assessing-health-related-quality-of-life-in-children-and-adolescents-in-a-clinical-sample-study-design-methods-and-first-results-of-the-kids-cat-study
#20
D Barthel, C Otto, S Nolte, A-K Meyrose, F Fischer, J Devine, O Walter, A Mierke, K I Fischer, U Thyen, M Klein, T Ankermann, M Rose, U Ravens-Sieberer
PURPOSE: Recently, we developed a computer-adaptive test (CAT) for assessing health-related quality of life (HRQoL) in children and adolescents: the Kids-CAT. It measures five generic HRQoL dimensions. The aims of this article were (1) to present the study design and (2) to investigate its psychometric properties in a clinical setting. METHODS: The Kids-CAT study is a longitudinal prospective study with eight measurements over one year at two University Medical Centers in Germany...
November 9, 2016: Quality of Life Research
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