Bibliography September2008

1. AGRUP C: Immune-mediated audiovestibular disorders in the paediatric population: a review, Int.J.Audiol., Vol. 47(9), 560-565., 2008
   Organism:Department of Neuro-otology, The National Hospital of Neurology and Neurosurgery, London, UK cagrup@ionuclacukFAU - Agrup, Charlotte
   Abstract:Recent studies show that several audiovestibular pathologies in the paediatric population may be immune-mediated. This is even more probable if the pathology is associated with a coexisting systemic autoimmune disorder. At this time, however, the current literature is limited to a few case reports, and little is known with regard to prevalence, diagnosis, and management of immune-mediated inner-ear disorders in children. This review aims to shed some light on clinical presentation, diagnosis, and treatment of paediatric immune-mediated inner-ear disorders. Sudden and progressive sensorineural hearing loss is discussed, in addition to some of the systemic autoimmune disorders commonly associated with immune-mediated audiovestibular pathology such as Cogan's syndrome, systemic lupus erythematosus, Behcet's disease, Sjogren's syndrome, and juvenile idiopathic arthritis

2. ANGELES-HAN S, FLYNN Tet LEHMAN T: Abatacept for refractory juvenile idiopathic arthritis-associated uveitis- a case report, J.Rheumatol., Vol. 35(9), 1897-1898., 2008
   Organism:

3. BARRETO AM, BIGOLIN MC, RAMOS JC, MACHADO LP, DOS REIS SL, DA SILVEIRA RBet BOGUSZEWSKI MC: [Growth hormone therapy for children with chronic diseases], Arq Bras.Endocrinol.Metabol., Vol. 52(5), 774-782., 2008
   Organism:Unidade de Endocrinologia Pediatrica, Departamento de Pediatria, Universidade Federal do Parana, Curitiba, PR, BrazilFAU - Barreto, Alexandre M
   Abstract:Growth disorders are commonly observed in children suffering from chronic diseases. The pathogenesis of growth failure is multifactorial. In chronic inflammatory diseases such as juvenile idiopathic arthritis and inflammatory bowel disease, growth is also affected by pro-inflammatory cytokines. Patients with chronic diseases might also become growth hormone (GH) deficient. However, normal or increased GH secretion with reduced plasma concentrations of insulin-like growth factor-I indicate a degree of GH insensitivity in some patients. Growth damage can increase with specific treatments, especially if glucocorticoids are used. GH therapy has been used to reduce the consequences of the disease and long-term steroid therapy in these patients. In this review, it is reported the encouraging results of GH treatment in growth-retarded children with chronic diseases, both in well defined indications as well in situations still under investigation

4. BAUMHOLTZ M, NETSCHER D, POPEK Eet SCHNEIDER AM: Types of tumors and outcome of treatment of 12 patients with nonmalignant fibrosing tumors in the pediatric hand, Ann.Plast.Surg., Vol. 61(4), 380-384., 2008
   Organism:Division of Plastic Surgery, Baylor College of Medicine, Houston, Texas 77030, USAFAU - Baumholtz, Michael
   Abstract:Nonmalignant fibrosing tumors in the pediatric hand or juvenile fibromatoses are uncommon and so may be a challenge to the clinician. We propose a diagnostic and treatment approach to nonmalignant fibrosing tumors of the pediatric hand based on a review of 12 patients who presented with 16 distinct hand lesions. We performed a retrospective 7-year chart review of 12 pediatric patients all with nonmalignant fibrosing conditions of the hand. All patients were operated on by a single surgeon (D.N.) and all samples were reviewed by a single pathologist (E.P.). Twenty-eight surgical procedures were performed on 12 patients. Lesions were classified by location (7 palmar, 9 dorsal) as well as clinicopathologic characteristics. It is imperative to have a broad differential when entertaining the diagnosis of juvenile fibromatosis. Most important, a diagnosis of true cancer must be ruled out. Other mimickers of this process (eg, juvenile rheumatoid arthritis) must also be considered. Most evaluations begin with magnetic resonance imaging and biopsy but a careful history is, as always, a key part of the evaluation. Some lesions may be observed once a diagnosis has been made. When surgical excision is indicated, wide resection is necessary. This may then require flap reconstruction with tendon and joint repair

5. BERNTSON L, DAMGARD M, ANDERSSON-GARE B, HERLIN T, NIELSEN S, NORDAL E, RYGG M, ZAK Met FASTH A: HLA-B27 predicts a more extended disease with increasing age at onset in boys with juvenile idiopathic arthritis, J.Rheumatol., Vol. 35(10), 2055-2061., 2008
   Organism:Department of Women's and Children's Health, Uppsala University Children's Hospital, Uppsala, Sweden lillemorberntson@teliacomFAU - Berntson, Lillemor
   Abstract:OBJECTIVE: Juvenile idiopathic arthritis (JIA) is a heterogeneous condition with very few clinical and laboratory signs that can help predict the course and severity of the disease in the individual patient. The cell-surface antigen HLA-B27 is well known to be associated with spondyloarthropathies, reactive arthritis, and enthesitis. HLA-B27 plays an important role in the classification of JIA, since evidence of sacroiliitis most often evolves after years of arthritis in other joints. We investigated the associations of HLA-B27 and the clinical manifestations of JIA using a method as close to a population-based study as possible. METHODS: We studied an incidence-based cohort of 305 patients collected prospectively in 3 Nordic countries (Sweden, Norway, Denmark). Clinical and serological data of the first 3 years of the disease were collected. RESULTS: HLA-B27 was found to be positive in 25.5% of the patients, and we found a higher proportion of HLA-B27-positive boys with older age at disease onset (p=0.034). Regression analysis showed a correlation of 0.7 in the HLA-B27-positive boys, pointing to a higher risk of more joint involvement with older age at disease onset. By Fisher's exact test, involvement of small joints in the lower extremities was associated with HLA-B27 in boys (p=0.011), but not in girls (p=0.687). HLA-B27 was associated with inflammatory back pain in both sexes (p=0.041 in boys, p=0.042 in girls), but with enthesitis only in boys (p<0.001 in boys, p=0.708 in girls). CONCLUSION: HLA-B27 is of increasing importance with older age at disease onset in boys with JIA, predicting more active joints within the first 3 years of disease, and also involving small joints in the lower extremity to a greater degree than in HLA-B27-negative boys. During the first 3 years of disease the occurrence of HLA-B27 is associated with inflammatory back pain in both sexes, but with enthesitis only in boys. Our data present new challenges for the ILAR classification of JIA

6. BEUKELMAN T, GUEVARA JP, ALBERT DA, SHERRY DDet BURNHAM JM: Usage of intra-articular corticosteroid injections for the treatment of juvenile idiopathic arthritis: a survey of pediatric rheumatologists in the United States and Canada, Clin.Exp.Rheumatol., Vol. 26(4), 700-703., 2008
   Organism:Department of Pediatrics, Division of Rheumatology, University of Alabama at Birmingham, AL 35294, USA tbeukelman@pedsuabeduFAU - Beukelman, T
   Abstract:OBJECTIVE: To characterize the current usage of intra-articular corticosteroid injections (IACI) by pediatric rheumatologists and the perceived disadvantages of and obstacles to IACI therapy.METHODS: We mailed a 32-item questionnaire to pediatric rheumatologists in the United States and Canada (n=201) to assess treatment strategies for the initial treatment of monoarthritis of the knee in juvenile idiopathic arthritis (JIA). Information regarding the usage of IACI for all patients with JIA and physicians' perceptions of IACI therapy was obtained. Respondents were dichotomized into those who performed frequent pediatric IACI (greater than 50 IACI in the last 12 months) and those who did not. RESULTS: One hundred and twenty-nine (64%) completed questionnaires were returned. IACI were recommended as one therapy for JIA by 99% of respondents, and 90% personally perform IACI. Frequent IACI were performed by 22%, and 15% had performed greater than 10 IACI in a single pediatric patient at one time. Those who did not perform frequent IACI were more likely to report concern about the pain of the procedure, the availability of nursing support, and their own comfort with performing the procedure; they were less likely to have performed greater than 20 pediatric IACI during fellowship training and evaluated fewer clinic patients per week. CONCLUSION: IACI are essentially universally recommended in the treatment regimen for JIA. However, there are differences in the usage of IACI among pediatric rheumatologists. The frequency of IACI use is associated with different perceptions of and training received in IACI therapy

7. CANNIOTO Z, TADDIO A, LEPORE Let ZENNARO F: Atlanto-axial subluxation in a patient with polyarticular juvenile idiopathic arthritis: clinical and radiological response to infliximab, Clin.Exp.Rheumatol., Vol. 26(4), 704-705., 2008

    

8. CANSU D, CELIK M, KASIFOGLU T, ISIKSOY Set KORKMAZ C: Osteolysis syndrome mimicking juvenile idiopathic arthritis, Joint Bone Spine., 2008
   Organism:Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, 26480 Eskisehir, Turkey
   Abstract:Osteolysis syndromes include a group of heterogeneous disorders that can be mistakenly diagnosed as juvenile idiopathic arthritis (JIA) in early course of the disease. We report a case of 16-year-old girl who presented with severe joint deformities, subcutaneous nodules and linear skin indurations. She had been diagnosed as having JIA before and given immunosuppressive therapy. X-ray of the joints showed severe osteopenia and osteolysis of interphalangeal joints of the hands and feet. The patient was diagnosed as having Torg/nodulosis, arthropathy, osteolysis syndrome (NAO). Here, we briefly discuss osteolysis syndromes and the differential diagnosis between osteolysis syndromes and JIA

9. CHINOY H, PLATT H, LAMB JA, BETTERIDGE Z, GUNAWARDENA H, FERTIG N, VARSANI H, DAVIDSON J, ODDIS CV, MCHUGH NJ, WEDDERBURN LR, OLLIER WEet COOPER RG: The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients, Arthritis Rheum., Vol. 58(10), 3247-3254., 2008
   Organism:University of Manchester Rheumatic Diseases Centre, Hope Hospital, Salford, UKFAU - Chinoy, H
   Abstract:OBJECTIVE: To examine single-nucleotide polymorphisms (SNPs) of the protein tyrosine phosphatase N22 gene (PTPN22) and to study the relationship between PTPN22 and the HLA region in patients with idiopathic inflammatory myopathies (IIMs). METHODS: PTPN22 SNPs were assessed in a large, cross-sectional, case-control study from the UK involving patients with adult or juvenile IIM, comprising patients with polymyositis (PM) (n=114), dermatomyositis (DM) (n=102), myositis associated with another connective tissue disease (myositis-CTD overlap syndrome) (n=64), or juvenile DM (n=101), in comparison with 748 control subjects. Seventeen PTPN22 SNPs were genotyped using the Sequenom MassArray iPLEX platform. Serotyping for myositis-specific/myositis-associated autoantibodies (MSAs/MAAs) was performed by radioimmunoprecipitation. RESULTS: A significant association was noted between the R620W variant (rs2476601) and IIM (corrected P [Pcorr]=0.0009 versus controls), and specifically with the clinical subgroup of PM (Pcorr=0.003 versus controls). A weaker association was noted with juvenile DM (Pcorr=0.009 versus controls). No significant associations were noted after stratification by serologic subgroups. The association with the R620W variant was independent of alleles forming the HLA 8.1 haplotype. No other PTPN22 SNPs were associated with IIM. The PTPN22 haplotype containing the R620W T allele was the only haplotype significantly associated with IIM. CONCLUSION: The R620W variant is a significant risk factor for IIM, independent of the HLA 8.1 haplotype. Unlike that in the HLA region, risk is not increased in individuals possessing MSAs/MAAs. These results are further evidence that the PTPN22 gene confers autoimmune susceptibility

10. EDE K, MCCURDY Det GARCIA-LLORET M: Hypertrophic osteoarthropathy in the hepatopulmonary syndrome, J.Clin.Rheumatol., Vol. 14(4), 230-233., 2008
    Organism:Department of Pediatric Allergy, Immunology, and Rheumatology, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA kede@mednetuclaeduFAU - Ede, Kaleo
    Abstract:Hypertrophic osteoarthropathy is an uncommon disease in the pediatric age group characterized by noninflammatory joint effusions, terminal digit clubbing, and radiographic evidence of periosteal new bone formation affecting the hands, feet, and distal limbs. The hepatopulmonary syndrome is also uncommon in childhood and presents as hepatic dysfunction, impaired arterial oxygenation, and intrapulmonary shunting. We report the case of a 17-year-old male with a history of liver transplantation at 4 months for biliary atresia who was initially diagnosed with juvenile rheumatoid arthritis but later developed features of classic hypertrophic osteoarthropathy. In addition, he was found to have the hepatopulmonary syndrome. It is important to consider hypertrophic osteoarthropathy as an imitator of juvenile rheumatoid arthritis, to recognize its known association with chronic liver disease, and to know that hepatopulmonary syndrome can occur in the setting of hypertrophic osteoarthropathy

11. GABAY C: Is tocilizumab a good therapeutic option for RA and systemic-onset juvenile idiopathic arthritis?, Nat.Clin.Pract.Rheumatol., Vol. 4(11), 572-573., 2008
    Organism:Division of Rheumatology at University Hospitals of Geneva, Geneva, Switzerland cemgabay@hcugechFAU - Gabay, Cem

     

12. GARG S, GARG K, ALTAF Met MAGALDI JA: Refractory vertebral sarcoidosis responding to infliximab, J.Clin.Rheumatol., Vol. 14(4), 238-240., 2008
    Organism:Department of Rheumatology, Duke University Medical Center, Durham, NC 27710, USA sanjaygarg@dukeeduFAU - Garg, Sanjay
    Abstract:Treatment of refractory sarcoidosis may be challenging for clinicians. Despite treatment with conventional therapy, sarcoidosis may be progressive and debilitating. Previous studies have implicated a role for tumor necrosis factor-alpha in granuloma formation as seen in sarcoidosis. Tumor necrosis factor-alpha inhibitors are currently approved to treat rheumatoid arthritis, Crohn disease, psoriasis, psoriatic arthritis, ankylosing spondylitis, and juvenile rheumatoid arthritis. There have been recent case-reports supporting treatment of refractory and multisystem sarcoidosis with such agents. We report a case of sarcoidosis, involving the lung and vertebrae, which was refractory to conventional therapy. Our patient's clinical symptoms and radiologic lesions of vertebral sarcoid dramatically improved after treatment with infliximab

13. GARNEFSKI N, KOOPMAN H, KRAAIJ Vet TEN CATE R: Brief report: Cognitive emotion regulation strategies and psychological adjustment in adolescents with a chronic disease, J.Adolesc., 2008
    Organism:Department of Psychology, Division of Clinical, Health and Neuropsychology, University of Leiden, PO Box 9555, 2300 RB Leiden, The Netherlands
    Abstract:Objective of the study was to examine how cognitive emotion regulation strategies were related to psychological maladjustment in adolescents with a chronic disease. The sample consisted of adolescents with a diagnosis of Juvenile Idiopathic Arthritis (JIA). A self-report questionnaire was used to assess Internalizing problems and Quality of Life. The specific cognitive emotion regulation strategies that were used in response to the disease were measured by the Cognitive Emotion Regulation Questionnaire (CERQ). Correlations and Multiple regression analyses showed that Rumination and Catastrophizing were the most important 'predictors' of psychological maladjustment in adolescents with JIA, suggesting that they should be considered as maladaptive cognitive emotion regulation strategies in response to a chronic disease such as JIA. Challenging these maladaptive cognitive emotion regulation strategies may therefore play an important role in intervention strategies

14. GERHARDT CA, MCGORON KD, VANNATTA K, MCNAMARA KA, TAYLOR J, PASSO Met NOLL RB: Educational and occupational outcomes among young adults with juvenile idiopathic arthritis, Arthritis Rheum., Vol. 59(10), 1385-1391., 2008
    Organism:The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205-2696, USA cynthiagerhardt@nationwidechildrensorgFAU - Gerhardt, Cynthia A
    Abstract:OBJECTIVE: To examine educational and occupational outcomes among young adults with juvenile idiopathic arthritis (JIA) and peers during the transition from adolescence to emerging adulthood. METHODS: Families were recruited when children with JIA were 8-14 years old. At that time, each child with JIA was matched to a classmate of similar age, sex, and race for inclusion in a comparison group. For the current followup (12.64 years postdiagnosis), 45 participants with JIA, 46 peers, and their parents completed questionnaires soon after the young person's 18th birthday. Disease type and severity were rated by health care providers. RESULTS: Young adults with JIA and peers were similar on a variety of factors, including family background, scholastic and occupational self-concept, and academic competence. The proportion of participants who graduated from high school, were working, and expressed plans to attend postsecondary education or seek employment was similar between groups. Disease type, initial severity, and time since diagnosis were generally not associated with indices of educational and occupational attainment. CONCLUSION: Despite the challenge of having a chronic illness, young adults with JIA were similar to peers on numerous educational and occupational outcomes during the transition from adolescence to emerging adulthood. Interventions to assist academic or occupational functioning may not be necessary for all children with JIA, but additional research is needed to identify subgroups at risk for long-term difficulties

15. GUTIERREZ-ROELENS Iet LAUWERYS BR: Genetic susceptibility to autoimmune disorders: clues from gene association and gene expression studies, Curr.Mol.Med., Vol. 8(6), 551-561., 2008
    Organism:Department of Rheumatology, Cliniques Universitaires Saint-Luc, Universite Catholique de Louvain, B-1200 Brussels, BelgiumFAU - Gutierrez-Roelens, Ilse
    Abstract:Susceptibility to autoimmune disorders results from the interaction of multiple genetic factors that regulate the threshold of autoreactivity. Genome-wide microsatellite screens and large-scale single nucleotide polymorphism (SNP) association studies have identified chromosomal loci that are associated with specific disorders including systemic lupus erythematosus, rheumatoid arthritis, juvenile arthritis, multiple sclerosis, and diabetes. Numerous candidate gene association studies have in turn investigated the association of specific genes within these chromosomal regions, with susceptibility to autoimmune diseases (e.g. FcgammaReceptors, TYK2 and systemic lupus). More recently, large-scale differential gene expression studies performed on selected tissues from patients with autoimmune disorders, have led to the identification of gene signatures associated with the activation of specific pathways in these diseases (e.g. interferon signature in lupus). In the future, integrated analyses of gene (and protein) expression together with SNP data will allow us to sketch an intelligible picture of the genesis of autoimmunity in humans. This review sets out to illustrate how the most recent advances in the field of systemic lupus erythematosus, rheumatoid arthritis and juvenile arthritis have led to a better understanding of these disorders

16. ILOWITE N, PORRAS O, REIFF A, RUDGE S, PUNARO M, MARTIN A, ALLEN R, HARVILLE T, SUN YN, BEVIRT T, ARAS Get APPLETON B: Anakinra in the treatment of polyarticular-course juvenile rheumatoid arthritis: safety and preliminary efficacy results of a randomized multicenter study, Clin.Rheumatol., 2008
    Organism:Schneider Children's Hospital, New Hyde Park, NY, USA, nilowite@montefioreorg
    Abstract:This study assessed the safety and preliminary efficacy of the interleukin-1 receptor antagonist anakinra in patients with polyarticular-course juvenile rheumatoid arthritis (JRA). Eighty-six patients entered a 12-week open-label run-in phase (1 mg/kg anakinra daily, </=100 mg/day). Fifty responders were randomized to anakinra or placebo in a 16-week blinded phase, followed by a 12-month open-label extension (N = 44). Due to low enrollment, the primary endpoint was changed from efficacy to safety. The incidence and nature of adverse events were similar across all study phases, with the exception of injection site reactions, which were mild to moderate and decreased with time. Anakinra produced a nonsignificant (P = 0.11) reduction in disease flares compared with placebo. When normalized to 1 mg/kg dose, anakinra plasma concentrations were similar to values in adult patients with rheumatoid arthritis. These results indicate that anakinra 1 mg/kg once daily (</=100 mg/day) is safe and well tolerated in patients with JRA

17. JUJ Het EMERY H: The Arthropathy of Down Syndrome: An Underdiagnosed and Under-recognized Condition, J.Pediatr., 2008
    Organism:Children's Hospital and Regional Medical Center (HJ, HE), Seattle, WA
    Abstract:OBJECTIVE: To define the clinical manifestations, determine prevalence, and heighten awareness about the arthropathy of Down syndrome. STUDY DESIGN: Using diagnostic codes for Down syndrome and juvenile idiopathic arthritis (JIA), we identified 9 cases in our hospital system. Each case met diagnostic criteria for JIA. Cases were compared with 21 additional literature cases. Prevalence was determined with diagnostic codes. RESULTS: Average delay from symptom onset to diagnosis was 2 years. Age at onset varied from 20 months to 12 years. Sex distribution was equal. At symptom onset, 57% had polyarticular disease, and 43% had oligoarticular disease, but 54% with oligoarticular disease progressed to polyarticular disease. Seventy-two percent had an elevated erythrocyte sedimentation rate. Most required second-line therapy, and almost half had development of joint subluxation. Prevalence of Down syndrome arthropathy is 8.7/1000, more than 6 times higher than JIA in the general population. CONCLUSION: The arthropathy of Down syndrome is an underrecognized condition that results in chronic disability and functional impairment in a population already at significant risk. Children with Down syndrome are predisposed to autoimmune disorders, but arthritis is overlooked in surveillance guidelines. To maximize joint function and quality of life, providers caring for children with Down syndrome need a high index of suspicion for the related arthropathy

18. KHOPKAR Uet BHOR U: Hodgkin's lymphoma in a patient of psoriasis treated with long-term, low-dose methotrexate therapy, Indian J.Dermatol.Venereol.Leprol., Vol. 74(4), 379-382., 2008
    Organism:Department of Dermatology, Seth GS Medical college and KEM Hospital, Parel, Mumbai, India drurmilabhor@yahoocoinFAU - Khopkar, Uday
    Abstract:Methotrexate (MTX) is used in the treatment of a variety of diseases such as rheumatoid arthritis, dermatomyositis, juvenile rheumatoid arthritis and chronic plaque psoriasis. It has been well documented that there is a risk of development of lymphomas in these patients although none have been reported in patients of psoriasis treated with methotrexate. A 58-year-old male patient, a known case of psoriasis since 1994, had been receiving treatment with a low dose of MTX, 5 mg weekly for ten years intermittently (7-8 months/year). The cumulative dose of MTX taken was 1.5 gm. He developed high-grade fever with cervical lymphadenopathy that was nonresponsive to routine line of management. Lymph node biopsy revealed the presence of mixed cellularity type of Hodgkin's lymphoma. CT scan showed cervical, mediastinal and abdominal lymphadenopathy. The patient responded well to withdrawal of MTX and chemotherapy. This is the first case of lymphoma occurring in a patient of psoriasis treated with low-dose MTX

19. LELIEVELD OT, ARMBRUST W, VAN LEEUWEN MA, DUPPEN N, GEERTZEN JH, SAUER PJet VAN WEERT E: Physical activity in adolescents with juvenile idiopathic arthritis, Arthritis Rheum., Vol. 59(10), 1379-1384., 2008
    Organism:University Medical Center Groningen, Groningen, The Netherlands othmlelieveld@revumcgnlFAU - Lelieveld, Otto T H M
    Abstract:OBJECTIVE: To explore physical activity (PA) in adolescents with juvenile idiopathic arthritis (JIA) compared with a healthy population and to examine associations between PA and disease-related factors. METHODS: Total energy expenditure (TEE), activity-related energy expenditure (AEE), PA level, and PA pattern were assessed with a 3-day activity diary. Aerobic capacity was assessed using a Symptom Limited Bicycle Ergometry test. Functional ability was assessed with the Childhood Health Assessment Questionnaire. Disease activity was assessed using Paediatric Rheumatology International Trials Organisation core set criteria. Overall well-being was measured using a visual analog scale, and time since diagnosis was assessed by retrospective study from patients' charts. We used a cross-sectional study design. Reference data were collected from healthy Dutch secondary school children. RESULTS: Thirty patients and 106 controls were included (mean+/-SD age 17.0+/-0.6 and 16.7+/-0.9 years, respectively). TEE, AEE, and PA level were significantly lower in the JIA group. The JIA group spent more time in bed and less time on moderate to vigorous PA. Only 23% of the JIA patients met public health recommendations to perform >or=1 hour daily moderate to vigorous PA compared with 66% in the reference group. Higher PA was associated with higher levels of well-being and maximal oxygen consumption. CONCLUSION: Adolescents with JIA have low PA levels and are at risk of losing the benefits of PA. Low PA is not related to disease activity, and control over the disease does not restore previous PA levels. Interventions by pediatric rheumatologists are needed to increase PA levels in patients with JIA

20. MARTINELLI CE, Jr.et PALHARES HM: [hrGH treatment of glucocorticoid-induced short stature in children], Arq Bras.Endocrinol.Metabol., Vol. 52(5), 809-817., 2008
    Organism:Servico de Endocrinologia Pediatrica, Departamento de Puericultura e Pediatria, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Ribeirao Preto, SP, Brazil cemart@fmrpuspbrFAU - Martinelli, Carlos Eduardo Jr
    Abstract:The treatment of systemic diseases with glucocorticoids is often associated with decreased height velocity (HV), and can result in shorter final height. Interactions between adrenal and GH-IGF axis have been described and can occur at hypothalamic-pituitary level or at the regulation of IGF system, including the IGF1R signaling. The clinical state of these patients may be considered as an absolute and/or functional IGF-1 deficiency. Interventions aiming to restore the normal function of GH-IGF axis might reduce the glucocorticoids-induced growth suppression in these children. It has been shown that recombinant human GH (hrGH) induces an increase in HV and a decrease in protein loss in patients with juvenile idiopathic arthritis treated with glucocorticoids. Significant increment in HV was also described after hrGH treatment in children under glucocorticoid therapy due to inflammatory bowel disease or renal transplantation. There is a positive correlation between HV and the dose of hrGH. The results support that the IGF-1 deficiency in these children may be counteract by hrGH therapy. The effect of hrGH is observed only during the treatment period and depends on the replacement strategy, nutritional status and disease control

21. MARTINI G, CABRELLE A, CALABRESE F, CARRARO S, SCQUIZZATO E, TERAMO A, FACCO M, ZULIAN Fet AGOSTINI C: CXCR6-CXCL16 interaction in the pathogenesis of Juvenile Idiopathic Arthritis, Clin.Immunol., Vol. 129(2), 268-276., 2008
    Organism:Pediatric Rheumatology Unit, University of Padova, Italy martini@pediatriaunipditFAU - Martini, Giorgia
    Abstract:In order to evaluate the role of CXCR6/CXCL16 in driving lymphocyte migration into inflamed joints of children with oligoarticular Juvenile Idiopathic Arthritis (JIA) we analysed CXCR6 expression and functional capability in lymphocytes from synovial fluid (SF) by flow cytometry, by real-time polymerase chain reaction (RT-PCR) and migration assays. Furthermore, CXCR6 and CXCL16 expression in synovial tissue (ST) was analysed by immunohistochemistry. T cells isolated from SF of patients with JIA expressed CXCR6 which was functionally active as shown by chemotactic assays. The same cells expressed CXCR3 and it exerted a migratory activity in response to CXCL10. CXCL16 and CXCR6 were intensively expressed on the synovium cells, respectively on macrophages, synoviocytes and endothelial cells and on lymphocytes, synoviocytes and endothelial cells. Taken together, these data suggest that CXCR6 and CXCR3 act coordinately with respective ligands and are involved in the pathophysiology of JIA-associated inflammatory processes

22. MORI M, NARUTO T, IMAGAWA T, MURATA T, TAKEI S, TOMIITA M, ITOH Y, FUJIKAWA Set YOKOTA S: Methotrexate for the treatment of juvenile idiopathic arthritis: process to approval for JIA indication in Japan, Mod.Rheumatol., 2008
    Organism:Department of Pediatrics, Yokohama City University School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, Kanagawa, 236-0004, Japan, mmori@medyokohama-cuacjp
    Abstract:Methotrexate (MTX), the primary treatment for the articular-type juvenile idiopathic arthritis (JIA), is effective and brings about radiological improvement. Patient compliance is good, and it is recognized that its known side effects, namely, disruption of liver function and induction of pulmonary lesions, are unlikely to be severe at the low MTX doses that are administered. In Japan, MTX was granted approval in 1999 by the then Ministry of Health and Welfare specifically for treating rheumatoid arthritis in adult patients, allowing it be generally used in medical institutions for patients having National Health Insurance. However, in the pediatric field, its use outside the indications has so far been unavoidable, and has been left to the discretion of the physician. Finally, at the present conference, expansion of the indications of MTX for JIA was approved in Japan. It is noteworthy that this expansion of indications was achieved without requiring clinical trials on children sponsored by the pharmaceutical company: it was achieved rather by collecting necessary information through ongoing efforts (including collection and analysis of information about approval status in foreign countries, adequate evidence from the literature, implementation of a clinical use survey in Japan, etc.). It also merits attention that the maximum dose (10 mg/m(2)) was set on the basis of pharmacokinetic data from children, rather than relying on the dosing method and dose for adults

23. NIELSEN S, RUPERTO N, GERLONI V, SIMONINI G, CORTIS E, LEPORE L, ALPIGIANI MG, ZULIAN F, CORONA F, ALESSIO M, BARCELLONA R, GALLIZZI R, ROSSI F, MAGNI-MANZONI S, LOMBARDINI G, FILOCAMO G, RASCHETTI R, MARTINI Aet RAVELLI A: Preliminary evidence that etanercept may reduce radiographic progression in juvenile idiopathic arthritis, Clin.Exp.Rheumatol., Vol. 26(4), 688-692., 2008
    Organism:Istituto di Ricovero e Cura a Carattere Scientifico G Gaslini, Genova, ItalyFAU - Nielsen, S
    Abstract:OBJECTIVE: To investigate the rate of radiographic progression, as measured with the carpo-metacarpal ratio (Poznanski score), during etanercept (ETN) therapy in children with polyarticular juvenile idiopathic arthritis (JIA). METHODS: Patients included in the Italian ETN registry who had a standard radiograph of both hands and wrists in the posteroanterior view made at start of treatment and after 1 year were included in the study. The clinical response was assessed by means of the ACR Pediatric definition of improvement. Radiographic progression was determined by calculating the change in the Poznanski score between the baseline and the 1-year radiographs. RESULTS: A total of 40 patients were studied. The frequency of ACR pediatric 30, 50, and 70 response at 1 year was 77%, 72%, and 50%, respectively. The median change in the Poznanski score between baseline and 1 year was + 0.3 units, meaning that, on average, patients experienced improvement in radiographic progression. CONCLUSION: Our pilot study provides evidence that ETN is potentially capable of reducing the progression of radiographic joint damage in JIA. This finding deserves confirmation in a controlled trial

24. O'BRIEN JR, GOKASLAN ZL, RILEY LH, III, SUK Iet WOLINSKY JP: Open reduction of C1-C2 subluxation with the use of C1 lateral mass and C2 translaminar screws, Neurosurgery., Vol. 63(1 Suppl 1), ONS95-ONS98, 2008
    Organism:Department of Orthopaedic Surgery, George Washington University, Washington, District of Columbia, USAFAU - O'Brien, Joseph R
    Abstract:OBJECTIVE: Spinal cord compression secondary to a subluxation of one vertebral body over another can be achieved with reduction of the translational deformity. Intraoperative reduction of C1-C2 subluxations can be technically challenging when one uses traditional techniques (e.g., wiring and transarticular screw fixation). The popularization of C1 lateral mass and C2 pedicle screws has allowed surgeons to achieve a more complex realignment at this region of the spine. Control of both C1 and C2 with independent fixation can be used to obtain reduction. In certain instances, placement of C2 pedicle screws is not possible. The use of C2 translaminar screws (if the C2 lamina is present and suitable) is an alternative method of fixation in C2 and can be used for intraoperative reduction. CLINICAL PRESENTATION: A 15-year-old boy with juvenile rheumatoid arthritis presented with spinal cord compression secondary to a C1-C2 subluxation. The C2 pedicle anatomy precluded safe placement of C2 pedicle screws. An alternative method of fixation with the use of C2 translaminar screws and reduction was performed to obtain proper alignment and decompress the spinal cord. TECHNIQUE: C1 lateral mass screws and C2 translaminar screws are inserted in the usual fashion. Two contoured rods, two rod holders, and two distractors, combined with C1 lateral mass screws and C2 translaminar screws, were used to achieve reduction. Concomitant distraction between the C2 translaminar screw head and the rod holder resulted in ventral translation of C2 on C1, decompressing the spinal cord. The reduction was maintained by tightening the C2 locking nut onto the rod. CONCLUSION: The use of C2 translaminar screws (if the C2 lamina is present and suitable) is an alternative method of fixation in C2. C1 lateral mass and C2 translaminar screw fixation provide a powerful means of reducing C1-C2 subluxations and maintaining alignment, achieving indirect decompression of the spinal cord

25. OUWERKERK JW, VAN PELT PA, TAKKEN T, HELDERS PJet NET J: Evaluating score distributions in the revised Dutch version of the Childhood Health Assessment Questionnaire, Pediatr.Rheumatol.Online.J., Vol. 6, 14, 2008
    Organism:Department of Pediatric Physical Therapy & Exercise Physiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands jvandernet@umcutrechtnlFAU - Ouwerkerk, Jessika W
    Abstract:ABSTRACT: OBJECTIVES: Evaluating the original, and the revised version of the Dutch Childhood Health Assessment Questionnaire (CHAQ). To explore the effect of different score calculation methods and eight more challenging items as proposed by Lam et al. (2004) on the score distribution in a population of patients with Juvenile Idiopathic Arthritis (JIA). METHODS: Two convenience samples of 59 and 31 children with JIA were studied. Box-and-whisker plots and the Kolmogorov-Smirnov (K-S) one-sample test of normality were used, to explore the score distributions. RESULTS: The results of this study confirm a ceiling effect when using the original CHAQ-30 with either score calculation method. The original CHAQ with the added eight more challenging items and the "mean" score calculation method, as well as the revised CHAQ showed less ceiling effect. CONCLUSION: The original CHAQ-38 with the "mean" score calculation method as well as the revised CHAQ are a possible alternative for future studies. However, there is a need for further prospective studies to improve the CHAQ and to support our findings

26. PEDEN JPet MORREY BF: Total elbow replacement for the management of the ankylosed or fused elbow, J.Bone Joint Surg.Br., Vol. 90(9), 1198-1204., 2008
    Organism:Mississippi Sports Medicine, 1325 East Fortification Street, Jackson, Missouri 39202, USAFAU - Peden, J P
    Abstract:This study reports our experience with total elbow replacement for fused elbows. Between 1982 and 2004, 13 patients with spontaneously ankylosed elbows were treated with a linked semi-constrained non-custom total elbow implant. The mean age at operation was 54 years (24 to 80). The stiffness was a result of trauma in ten elbows, juvenile rheumatoid arthritis in one, and rheumatoid arthritis in two. The patients were followed for a mean of 12 years (2 to 26) and were evaluated clinically using the Mayo Elbow Performance Score, as well as radiologically. A mean arc from 37 degrees of extension to 118 degrees of flexion was achieved. Outcomes were good or excellent for seven elbows at final review. Ten patients felt better or much better after total elbow replacement. However, there was a high complication rate and re-operation was required in over half of patients. Two developed peri-operative soft-tissue breakdown requiring debridement. A muscle flap with skin grafting was used for soft-tissue cover in one. Revision was undertaken in one elbow following fracture of the ulnar component. Three patients developed a deep infection. Three elbows were manipulated under anaesthesia for post-operative stiffness. Prophylactic measures for heterotopic ossification were unsuccessful. Total elbow replacement for the ankylosed elbow should be performed with caution. However, the outcome can be reliable in the long term and have a markedly positive impact on patient function and satisfaction. The high potential for complications must be considered. We consider total elbow replacement to be an acceptable procedure in selected patients with reasonable expectations

27. RAJAKUMAR Det ROSENBERG AM: Mycobacterium tuberculosis monoarthritis in a child, Pediatr.Rheumatol.Online.J., Vol. 6, 15, 2008
    Organism:Department of Pediatrics, University of Saskatchewan, Saskatoon, Canada alanrosenberg@usaskcaFAU - Rajakumar, Derek
    Abstract:ABSTRACT: A child with isolated Mycobacterium tuberculosis monoarthritis, with features initially suggesting oligoarthritis subtype of juvenile idiopathic arthritis, is presented. This patient illustrates the need to consider the possibility of tuberculosis as the cause of oligoarthritis in high-risk pediatric populations even in the absence of a tuberculosis contact history and without evidence of overt pulmonary disease

28. RYBAR I, ROZBORILOVA E, ZANOVA E, MICEKOVA D, SOLOVIC Iet ROVENSKY J: The effectiveness for prevention of tuberculosis in patients with inflammatory rheumatic diseases treated with TNF inhibitors, Bratisl.Lek.Listy., Vol. 109(4), 164-167., 2008
    Organism:National Institute of Rheumatic Diseases, Piestany, Slovakia rybar@nurchskFAU - Rybar, I
    Abstract:BACKGROUND: New biologic therapies blocking TNF undoubtly constitute a considerable advancement in the management mentioned diseases, but are also associated with higher risk of activation of tuberculosis. METHODS: An assessment of tuberculosis activation rate in the group of patients with rheumatoid arthritis, juvenile idiopatic arthritis, ankylosing spondylitis and psoriatic arthritis threated by anti-TNF inhibitors since January 1st 2001 to June 30th 2007 in Slovakia and went in for special anti-tuberculosis screening before start of therapy. RESULTS: A total 537 rheumatic patients received the anti-TNF therapy. There were 346 rheumatoid arthritis patients, 68 juvenile idiopatic arthritis patients, 71 patients suffered from ankylosing spondylitis and 52 from psoriatic arthritis. Duration of anti-TNF therapy was 843 of patient-years. Infliximab took 203 patients with duration of therapy 348 patient-years, etanercept 201 patients with duration of therapy 331 patient-years and adalimumab 133 patients with duration of therapy 164 patient-years. The activation of tuberculosis reached the incidence 0.37% (2 cases for 537 patients) representing 0.237 cases for 100 patient-years. Both patients had extrapulmonary forms of tuberculosis which was in one patient disseminated, but they fully recovered after the anti-TNF drugs were stopped and chemotherapy was completed. CONCLUSION: Our results demonstrate a low incidence of tuberculosis activation during anti-TNF treatment in patients with inflammatory rheumatic diseases in the Slovak Republic and confirm the high effectiveness ours specified complex screening measures (Tab. 3, Ref. 13). Full Text (Free, PDF) www.bmj.sk

29. SABRI K, SAURENMANN RK, SILVERMAN EDet LEVIN AV: Course, complications, and outcome of juvenile arthritis-related uveitis, J.AAPOS., 2008
    Organism:Department of Ophthalmology and Vision Science, The Hospital for Sick Children, University of Toronto, Toronto, Canada
    Abstract:PURPOSE: To describe the clinical features of uveitis in patients with juvenile idiopathic arthritis (JIA). METHODS: Retrospective chart review of a subset of 1,081 consecutive JIA patients who were younger than 18 years of age and had uveitis, with a minimum of 1-year follow-up at a single center. RESULTS: One hundred forty-two patients (13.1%) developed uveitis after a mean follow-up of 6.3 years (range, 0.10-23.2). Uveitis types were chronic anterior (97/142, 68.3%), acute anterior (23/142, 16.2%), recurrent anterior (17/142, 12%), and panuveitis (5/142, 3.5%). Uveitic complications were observed in 37.3% of cases (53/142) and 32.5% eyes (74/228). When we compared uveitic eyes with complications to uveitic eyes without complications, we found the following significant differences: time interval from diagnosis of JIA to diagnosis of uveitis was shorter (mean, 1.3 years vs. 2.2 years; p = 0.003) and use of oral prednisone was greater (59.1% vs 15.6%; p < 0.0001) in the eyes with complications. Twenty-one children (21/142, 14.8%) with uveitis underwent a total of 62 ocular surgeries. Good visual acuity (20/40 or better) was found in 90.8% of eyes (159/175) and in both eyes of 87% of cases (94/108), impaired visual acuity in 6 eyes of 4 cases (6/175, 3.4%), and blindness in 10 eyes of 10 cases (10/175, 5.7%). Only 2 patients had reduced visual acuity in both eyes. Surgery was the single most important risk factor for reduced visual acuity at the last follow-up (p = 0.0086). CONCLUSIONS: Most uveitic eyes with JIA achieved good visual outcome despite uveitic complications

30. SARI I, BINICIER O, BIRLIK M, AKAR S, YILMAZ E, KARGI A, ONEN Fet AKKOC N: Thymic enlargement in a patient with juvenile idiopathic arthritis during etanercept therapy, Rheumatol.Int., 2008
    Organism:Department of Internal Medicine, Division of Rheumatology, Dokuz Eylul University School of Medicine, Izmir, Turkey
    Abstract:Tumor necrosis factor (TNF) alpha inhibitors are effective in the treatment of inflammatory rheumatic diseases. Despite their effectiveness, anti-TNF drugs have some drawbacks such as severe adverse effects including infections and possibly lymphoproliferative disorders. In this report we described a case of juvenile idiopathic arthritis patient who developed thymic enlargement (true thymic hyperplasia), mediastinal lymphadenopathy and pleurisy associated with systemic symptoms under Etanercept treatment. The clinical presentation was highly suggestive of malignancy and the patient underwent diagnostic mediastinoscopy with biopsy

31. SPELLING P, BONFA E, CAPARBO VFet PEREIRA RM: Osteoprotegerin/RANKL system imbalance in active polyarticular-onset juvenile idiopathic arthritis: a bone damage biomarker?, Scand.J.Rheumatol., 1-6., 2008
    Organism:Paediatric Rheumatology Division, Hospital Evangelico de Curitiba, Parana
    Abstract:Objective: To evaluate the importance of receptor activator of nuclear factor kappaB (RANK)/receptor activator of nuclear factor kappaB ligand (RANKL)/osteoprotegerin (OPG) modulation in active polyarticular juvenile idiopathic arthritis (pJIA) patients with and without bone erosions. Methods: Thirty female patients (mean age 11.07+/-3.77 years, range 4-17 years) with active pJIA and 30 healthy gender- and age-matched controls were consecutively selected for this study. All involved articulations were assessed by X-ray and examined for the presence of bone erosions. The serum levels of RANKL and OPG were measured using an enzyme-linked immunosorbent assay (ELISA). Results: Patients with active pJIA had higher levels of serum RANKL than controls [2.90 (0.1-37.4) vs. 0.25 (0.1-5.7) pg/mL, p = 0.007] and a lower OPG/RANKL ratio [21.25 (1.8-897.6) vs. 347.5 (9-947.8), p = 0.005]. However, levels of OPG were comparable in both groups [55.24 (28.34-89.76) vs. 64.42 (30.68-111.28) pg/mL, p = 0.255]. Higher levels of serum RANKL and a lower OPG/RANKL ratio were also observed in active pJIA patients with bone erosions compared to controls [3.49 (0.1-37.4) vs. 0.25 (0.1-5.7) pg/mL, p = 0.0115 and 14.3 (1.8-897.6) vs. 347.5 (9-947.8), p = 0.016]. However, RANKL levels and OPG/RANKL ratio were similar in pJIA patients without bone erosion and controls [1.75 (0.1-10.9) vs. 0.25 (0.1-5.7) pg/mL, p = 0.055 and 29.2 (3.3-756.8) vs. 347.5 (9-947.8), p = 0.281]. Conclusion: These data suggest that active pJIA with bone erosions is associated with high serum levels of RANKL and a low OPG/RANKL ratio, indicating that these alterations may reflect bone damage in this disease

32. SUZUKI A, YAMADA R, KOCHI Y, SAWADA T, OKADA Y, MATSUDA K, KAMATANI Y, MORI M, SHIMANE K, HIRABAYASHI Y, TAKAHASHI A, TSUNODA T, MIYATAKE A, KUBO M, KAMATANI N, NAKAMURA Yet YAMAMOTO K: Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population, Nat.Genet., Vol. 40(10), 1224-1229., 2008
    Organism:Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230-0045, JapanFAU - Suzuki, Akari
    Abstract:Rheumatoid arthritis is a chronic autoimmune inflammatory disease with a complex genetic etiology. Members of the signaling lymphocyte activation molecule (SLAM) family carry out pivotal functions in innate immunity and in conventional lymphocytes. We identified a linkage disequilibrium block associated with rheumatoid arthritis in the chromosome 1q region containing multiple SLAM family genes. In this block, the association peaked at two functional SNPs (rs3766379 and rs6682654) in CD244 in two independent rheumatoid arthritis cohorts from Japan (P = 3.23 x 10(-8) and P = 7.45 x 10(-8)). We also identified a Japanese cohort with systemic lupus erythematosus that had a similar genotype distribution as the rheumatoid arthritis cohorts. We demonstrated that the rheumatoid arthritis-susceptible alleles of rs3766379 and rs6682654 and their haplotype increased their expression in luciferase and allele-specific transcript quantification assays. CD244 is a genetic risk factor for rheumatoid arthritis and may have a role in the autoimmune process shared by rheumatoid arthritis and systemic lupus erythematosus

33. TAKKEN T, VAN BRUSSEL M, ENGELBERT RH, VAN DER NJ, KUIS Wet HELDERS PJ: Exercise therapy in juvenile idiopathic arthritis: a Cochrane Review, Eur.J.Phys.Rehabil.Med., Vol. 44(3), 287-297., 2008
    Organism:Department of Pediatric Physical Therapy and Exercise Physiology, Wilhelmina Children's Hospital, UMC Utrecht, The Netherlands ttakken@umcutrechtnlFAU - Takken, T
    Abstract:BACKGROUND: Exercise therapy is considered an important component of the treatment of arthritis. The efficacy of exercise therapy has been reviewed in adults with rheumatoid arthritis but not in children with juvenile idiopathic arthritis (JIA). OBJECTIVES: To assess the effects of exercise therapy on functional ability, quality of life and aerobic capacity in children with JIA. METHODS: Several electronic databases were searched up to October 2007 and references were tracked. The selection criteria were randomized controlled trials (RCTs) of exercise treatment in JIA. As for data collection and analysis, potentially relevant references were evaluated and all data were extracted by two review authors working independently. RESULTS: Three out of 16 identified studies met the inclusion criteria, with a total of 212 participants. All the included studies fulfilled at least seven of 10 methodological criteria. The outcome data of the following measures were homogenous and were pooled in a meta-analysis: functional ability (N=198; weighted mean difference [WMD] -0.07, 95% CI -0.22 to 0.08), quality of life (CHQ-PhS: N=115; WMD -3.96, 95% CI -8.91 to 1.00) and aerobic capacity (N=124; WMD 0.04, 95% CI -0.11 to 0.19). The results suggest that the outcome measures all favoured the exercise therapy but none were statistically significant. None of the studies reported negative effects of the exercise therapy. CONCLUSIONS: Overall, based on ''silver-level'' evidence there was no clinically important or statistically significant evidence that exercise therapy can improve functional ability, quality of life, aerobic capacity or pain. The included and excluded studies were all consistent about the adverse effects of exercise therapy; no short-term detrimental effects of exercise therapy were found in any study. Both included and excluded studies showed that exercise does not exacerbate arthritis. Although the short-term effects look promising, the long-term effect of exercise therapy remains unclear

34. THOMAS SL, EDWARDS CJ, SMEETH L, COOPER Cet HALL AJ: How accurate are diagnoses for rheumatoid arthritis and juvenile idiopathic arthritis in the general practice research database?, Arthritis Rheum., Vol. 59(9), 1314-1321., 2008
    Organism:Department of Epidemiology & Population Health, London School of Hygiene & Tropical Medicine, Keppel Street, London WC1E 7HT, UK sarathomas@lshtmacukFAU - Thomas, S L
    Abstract:OBJECTIVE: To identify characteristics that predict a valid rheumatoid arthritis (RA) or juvenile idiopathic arthritis (JIA) diagnosis among RA- and JIA-coded individuals in the General Practice Research Database (GPRD), and to assess limitations of this type of diagnostic validation. METHODS: Four RA and 2 JIA diagnostic groups were created with differing strengths of evidence of RA/JIA (Group 1 = strongest evidence), based on RA/JIA medical codes. Individuals were sampled from each group and clinical and prescription data were extracted from anonymized hospital/practice correspondence and electronic records. American College of Rheumatology and International League of Associations for Rheumatology diagnostic criteria were used to validate diagnoses. A data-derived diagnostic algorithm that maximized sensitivity and specificity was identified using logistic regression. RESULTS: Among 223 RA-coded individuals, the diagnostic algorithm classified individuals as having RA if they had an appropriate GPRD disease-modifying antirheumatic drug prescription or 3 other GPRD characteristics: >1 RA code during followup, RA diagnostic Group 1 or 2, and no later alternative diagnostic code. This algorithm had >80% sensitivity and specificity when applied to a test data set. Among 101 JIA-coded individuals, the strongest predictor of a valid diagnosis was a Group 1 diagnostic code (>90% sensitivity and specificity). CONCLUSION: Validity of an RA diagnosis among RA-coded GPRD individuals appears high for patients with specific characteristics. The findings are important for both interpreting results of published GPRD studies and identifying RA/JIA patients for future GPRD-based research. However, several limitations were identified, and further debate is needed on how best to validate chronic disease diagnoses in the GPRD

35. THON Aet ULLRICH G: Information needs in parents of children with a rheumatic disease, Child Care Health Dev., 2008
    Organism:Department of Pediatrics, Hanover Medical School, Germany
    Abstract:Background and Objective Incorporating the patient's perspective and expectations into the delivery of health care has become an important indicator of today's quality of medical care. Our aim was consequently to explore the information needs of parents of children with juvenile idiopathic arthritis and other rheumatic diseases. Materials and Methods Cross-sectional, anonymous survey using a purpose-designed questionnaire, which separately assessed sources of information and topics. With respect to sources, we also asked about their degree of helpfulness, and regarding topics, we also asked about further interests (information needs). The questionnaire was sent to 146 families continuously attending our paediatric rheumatology outpatient clinic. The response rate was 79.5%. The mean age of the children was 6.9 +/- 4.3 years, 69% were girls and disease duration averaged 2.6 +/- 4.3 years. Mean Child Health Assessment Questionnaire score as a measure of functional disability was 0.259 (+/-0.45; range 0.0-2.13). Results Regarding sources, those with a professional medical background were appreciated, while information from friends and family members, in particular, was not. Overall, parents considered themselves well-informed. Parents had frequently received information on core domains of medical aspects. They described deficits related to psychosocial impact, to (vocational) education and to complementary therapy. However, their interest in further information was high almost irrespective of the amount of prior information. Conclusion For further tailored information and support strategies it should be taken into account that even for topics largely covered by usual medical advice, residual interest and information needs of parents remain high

36. TUCHMAN LK, SLAP GBet BRITTO MT: Transition to adult care: experiences and expectations of adolescents with a chronic illness, Child Care Health Dev., Vol. 34(5), 557-563., 2008
    Organism:Craig-Dalsimer Division of Adolescent Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA tuchmanl@emailchopeduFAU - Tuchman, L K
    Abstract:BACKGROUND: Effective means of transitioning adolescent patients with chronic illness from paediatric to adult medical care are poorly documented and supported by limited evidence. The purpose of this study is to describe expectations and concerns of adolescents with chronic illness regarding transition from subspecialty paediatric to adult-centred care during the transition process in order guide effective programme design and implementation. METHODS: Qualitative content and thematic analysis of semi-structured individual interviews with 22 adolescents with chronic illness, including cystic fibrosis, sickle cell disease, juvenile rheumatoid arthritis, and inflammatory bowel disease. Interviews took place at 1-3 time points over an 18-month study period. RESULTS: Transition topics included: timing of transfer to adult care, the transition process, attitudes about transition, and factors that might aid transition. During the study period, one-third of participants made the transition to adult-oriented health care. All participants who had transitioned to adult-oriented care reported participating in a structured transition programme. Concerns of those who had not initiated the transition process centred on re-establishing relationships and bringing a new team 'up to speed'. Most adolescents anticipating transfer to adult care identified only downsides and felt unprepared to transition at the time of the interview. Subjects who had transitioned noted benefits of the adult-oriented system, even if they had been ambivalent prior to transfer of care. Participants suggested that earlier discussions about transition, opportunities to meet new healthcare teams and visits to adult-oriented venues prior to transition might aid in the transition process. CONCLUSIONS: Subspecialty paediatric providers should anticipate common fears and concerns of adolescents and discuss the benefits of transfer to adult-oriented care. Further evaluation of existing transition programmes is an area for future study and is necessary for improvement of the continuum of care for adolescents with chronic medical conditions

37. VEALE DJ, WOOLF ADet CARR AJ: Chronic musculoskeletal pain and arthritis: impact, attitudes and perceptions, Ir.Med.J., Vol. 101(7), 208-210., 2008
    Organism:St Vincents University Hospital, Elm Park, Dublin douglasveale@ucdieFAU - Veale, D J
    Abstract:The aim of this study was to assess the prevalence, management and impact on quality of life of chronic musculoskeletal pain in Ireland by comparing the attitudes and perceptions of sufferers to those of general practice doctors (GPs). A telephone survey was conducted with 498 people with chronic musculoskeletal pain (screened from a total of 3323) and 150 GPs selected randomly from the medical register. The survey was based on a structured questionnaire that asked about the impact of CMP, usual management and perceived benefits and risks of treatment. Chronic musculoskeletal pain, including arthritis, affected one in six of the people screened for the survey. 25% of those surveyed have never consulted a doctor about their condition and many others will have waited up to two years before seeking help. 67% of respondents reported that pain caused significant reduction in their quality of life (measured using the SF-12 scale). The survey also indicated that people with chronic musculoskeletal pain have misconceptions about their condition, treatment options and side effects and patients rarely receive written information from their GP on these subjects. Chronic musculoskeletal pain, including arthritis is common and significantly reduces quality of life in Ireland. People delay seeking medical help, despite being in constant/daily pain. Written information is sparse and misperceptions relating to treatment are common. Improved awareness and valid information may lead to better care for people suffering from CMP in Ireland

38. ZHANG K, BIROSCHAK J, GLASS DN, THOMPSON SD, FINKEL T, PASSO MH, BINSTADT BA, FILIPOVICH Aet GROM AA: Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms, Arthritis Rheum., Vol. 58(9), 2892-2896., 2008
    Organism:Children's Hospital Medical Center, Cincinnati, OhioFAU - Zhang, Kejian
    Abstract:OBJECTIVE: Systemic juvenile idiopathic arthritis (JIA) is associated with macrophage activation syndrome. Macrophage activation syndrome bears a close resemblance to familial hemophagocytic lymphohistiocytosis (HLH). The development of familial HLH has been recently associated with mutations in MUNC13-4. The purpose of this study was to assess for possible sequence alterations in MUNC13-4 in patients with systemic JIA/macrophage activation syndrome. METHODS: The MUNC13-4 sequence was analyzed in 18 unrelated patients with systemic JIA/macrophage activation syndrome, using 32 primer pair sets designed to amplify the 32 exons and at least 100 basepairs of the adjacent intronic regions. DNA samples obtained from 73 unrelated patients with systemic JIA and no history of macrophage activation syndrome and 229 unrelated healthy individuals were used as controls. RESULTS: The biallelic sequence variants in MUNC13-4 reported in familial HLH were present in 2 of the 18 patients with JIA/macrophage activation syndrome. Further analysis of the MUNC13-4 sequences revealed an identical combination of 12 single-nucleotide polymorphisms (SNPs) in 9 of the remaining 16 patients with systemic JIA/macrophage activation syndrome (56%). Additional analysis suggested that these 12 SNPs (154[-19] g>a, 261[+26] c>g, 388[+81] g>a, 388[+122] c>t, 570[-60] t>g, 888 G>C, 1389[+36] g>a, 1992[+5] g>a, 2447[+144] c>t, 2599 A>G, 2830[+37] c>g, 3198 A>G) were inherited as an extended haplotype. In several patients, in addition to the described haplotype, there were other SNPs in the second allele of MUNC13-4. Moreover, 1 patient had a complex mutation with 2 changes, 2542 A>C and 2943 G>C, in a cis configuration. The haplotype was present in only 27 (12%) of 229 healthy control subjects (chi(2) = 23.5) and in 6 (8.2%) of 73 patients with systemic JIA and no history of macrophage activation syndrome. CONCLUSION: The data suggest an association between MUNC13-4 polymorphisms and macrophage activation syndrome in patients with systemic JIA