Juvenile idiopathic arthritis in a patient with previous diagnosis of severe congenital lupus.

Neonatal lupus (NL) is an acquired autoimmune disease of the newborn, caused by transplacental passage of the maternal autoantibodies anti SS-A/Ro and anti SS-B/La. When the clinical picture starts directly at birth, it is known as congenital lupus (CL). The clinical manifestations are variable. Except for cardiac involvement, the other manifestations tend to be benign, and resolve with the child's clearance of maternal antibodies. We report a patient who presented at birth with very severe involvement of the skin, and subsequent contractures of hands and feet, leading to functional impairment. The patient underwent surgical procedures with excellent result. At the age of 18 months, the patient was diagnosed with oligoarticular juvenile idiopathic arthritis (JIA), and bilateral uveitis at the age of 3 years and a half. Our aim is to alert health professionals about the possibility of a severe course of cutaneous manifestations in CL, as well as the role of CL and NL regarding development of other autoimmune diseases.

[Can ICF core sets be helpful in preparing a social-medical expert report due to incapacity to work?--a first proposal]. / Können ICF Core Sets für die Erstellung von sozialmedizinischen Gutachten bei Anträgen auf Erwerbsminderungsrente hilfreich sein?--Ein erster Vorschlag.

INTRODUCTION: Social-medical expert reports from the German statutory pension insurance are essential for the German statutory pension regulatory authority to decide whether to grant services regarding participation as well as retirement pensions due to incapacity to work.The objective of this investigation is to determine whether the ICF Core Sets and other international approaches, such as the EUMASS Core Sets or ICF Core Set for vocational rehabilitation cover the content of the social-medical expert reports as well as to propose an approach how the ICF can be economically used by the social medicine practitioner when writing a social-medical expert report. METHOD: A retrospective quantitative study design was used to translate a total of 294 social-medical expert reports from patients with low back pain (LBP) or chronic widespread pain (CWP) into the language of the ICF (linking) by 2 independent health professionals and compare the results with the ICF Core Sets for specific health conditions and other international approaches. RESULTS: The content of social-medical expert reports was largely reflected by the condition specific brief ICF Core Sets, brief ICF Core Sets for vocational rehabilitation and EUMASS Core Sets. The weighted Kappa statistic for the agreement between the 2 health professionals who translated the expert reports were in CWP 0.69 with a bootstrapped confidence interval of 0.67-0.71 and in LBP 0.73 (0.71-0.74). DISCUSSION: The analyses show that the content of social-medical expert reports varies enormously. A combination of a condition specific brief ICF Core Set as well as vocational rehabilitation and EUMASS ICF Core Sets as well as all ICF-categories from the expert reports that were named at least in 50% of it can largely provide a basis for preparing expert reports. Within the scope of implementation the need for a specific ICF Core Set for expert reports of the German statutory pension insurance should be further analyzed and discussed.

Long-term follow-up on effectiveness and safety of etanercept in juvenile idiopathic arthritis: the Dutch national register.

OBJECTIVE: We undertook an observational study to obtain a complete overview of the long-term effectiveness and safety of etanercept in patients with different juvenile idiopathic arthritis (JIA) subtypes. METHODS: At baseline we collected patient and disease characteristics of all Dutch patients with JIA who started treatment with etanercept. Disease activity was evaluated (at start of the study, after 3 months and then yearly) according to the JIA core set of the American College of Rheumatology paediatric definition for 30, 50 and 70% improvement (ACR Pedi 30, 50 and 70). Use of etanercept and concomitant drugs was monitored. Adverse events were recorded. RESULTS: We included 146 patients with JIA with a median follow-up of 2.5 years per patient (range 0.3-7.3). JIA subtypes represented: 27% systemic, 8% polyarticular rheumatoid factor positive, 38% polyarticular rheumatoid factor negative, 19% oligoarticular extended, 3% enthesitis-related and 5% psoriatica. Most patients (77%) met the criteria of the ACR Pedi 30 in the first 3 months of treatment. For the majority of patients this improvement was sustained; 53 (36%) of all patients met the remission criteria. No other second-line agents were needed in 43 patients. Although patients with systemic JIA responded initially less to etanercept therapy than patients from other subtypes, those who did respond showed equal effectiveness in the long term. Serious adverse events rate was low (0.029 per patient year). CONCLUSIONS: Etanercept is effective and safe in JIA, even for a large proportion of the patients with systemic JIA. The greatest improvement occurred in the first 3 months of treatment, and was sustained for a long time in most patients (up to 75 months).

Development of a web-based register for the Dutch national study on biologicals in JIA: www.ABC-register.nl.

OBJECTIVES: Most clinical studies use paper case record forms (CRFs) to collect data. In the Dutch multi-centre observational study on biologicals we encountered several disadvantages of using the paper CRFs. These are delay in data collection, lack of overview in collected data and difficulties in obtaining up-to-date interim reports. Therefore, we wanted to create a more effective method of data collection compared with CRFs on paper in a multi-centre study. METHODS: We designed a web-based register with the intention to make it easy to use for participating physicians and at the same time accurate and up-to-date. Security demands were taken into account to secure the safety of the patient data. RESULTS: The web-based register was tested with data from 161 juvenile idiopathic arthritis patients from nine different centres. Internal validity was obtained and user-friendliness guaranteed. To secure the completeness of the data automatically generated e-mail alerts were implemented into the web-based register. More transparency of data was achieved by including the option to automatically generate interim reports of data in the web-based register. The safety was tested and approved. CONCLUSIONS: By digitalizing the CRF we achieved our aim to provide easy, rapid and safe access to the database and contributed to a new way of data collection. Although the web-based register was designed for the current multi-centre observational study, this type of instrument can also be applied to other types of studies. We expect that especially collaborative study groups will find it an efficient tool to collect data.

The evaluation of uveitis in juvenile idiopathic arthritis (JIA) patients: are current ophthalmologic screening guidelines adequate?

OBJECTIVE: The aims of this study are to examine in our juvenile idiopathic arthritis (JIA) population: 1) the prevalence and characteristics of uveitis, 2) the complications and outcome of uveitis, 3) prognostic factors, and 4) the adequacy of the current ophthalmologic screening guidelines. METHODS: Retrospective analysis of medical records. RESULTS: 1) Of the 153 JIA patients included, 27 developed asymptomatic anterior uveitis (17.6%) - 7 unilateral and 20 bilateral. The 27 uveitis patients were significantly younger at JIA presentation than the 126 JIA patients without uveitis. 2) The following uveitis complications were noticed: glaucoma, cataract, posterior synechiae, cystoid macular oedema and papillitis. A visual outcome was acquired in 25 patients - 21 patients had a known visual acuity of > or = 0.1. Four patients had a visual acuity of <0.05 - 3 unilateral and 1 bilateral. 3) Female gender could not be confirmed as an independent risk factor for uveitis, neither was Anti Nuclear Antibody (ANA) positivity. We did not find a significant relationship between the moment of clinical remission of arthritis and of uveitis. 4) When applying current uveitis screening guidelines to our JIA population, we found that the optimum screening regimen would consist of a combination of the higher screening frequency of Southwood (1) and the longer screening period of the American Academy of Pediatrics (2) (AAP) screening guidelines. CONCLUSIONS: Uveitis is often encountered in JIA patients. It is a serious cause of morbidity. The use of disease-modifying antirheumatic drugs (DMARDs) probably has a positive effect on the preservation of visual function. We recommend a uveitis screening regimen which combines the AAP and Southwood guidelines and which includes rheumatoid factor positivity (RF+) and systemic onset patients in the quarterly screening.

Safety of anti-TNFalpha therapy in children with juvenile idiopathic arthritis.

Anti-TNFalpha agents are frequently used in the treatment of severe JIA. Etanercept, a fully human soluble recombinant tumour necrosis factor p75 receptor Fc fusion protein, has been registered for the treatment of polyarticular course JIA patients who fail to respond to or do not tolerate methotrexate (MTX). Infliximab, a chimeric human-mouse monoclonal antibody to TNFalpha, is expected to be registered soon for JIA and Crohn's disease (CD) in children. As in adults, both agents are effective in controlling inflammation and inhibiting the progression of joint destruction. Despite this good clinical efficacy, the physician must remain alert for potential side effects, especially after prolonged use. This review gives an overview of the reported adverse events.

Progressive facial hemiatrophy: a complex disorder not only affecting the face. A report in a monozygotic male twin pair.

UNLABELLED: Progressive facial hemiatrophy (PFH) is a ubiquitous disease, characterized by hyperpigmentation of skin followed by unilateral craniofacial atrophy of subcutaneous tissues, including fat, muscle and bone. Hereditary factors have been postulated to be involved in the aetiology of PFH. Yet, the occurrence of PFH in one of two identical male twins reported here makes this possibility unlikely. PFH usually occurs in the first two decades of life, and the clinical presentation resembles linear scleroderma. PFH may be complicate by autoimmune, neurological, ocular and dental disorders. Management of PFH comprises a long term follow-up of somatic disorders, and prevention of psychological problems. Treatment of PFH is symptomatic and consists of plastic surgery after the disease activity has stopped. CONCLUSION: The occurrence of PFH in one of monozygotic twin pair suggests that genetic factors are not involved in its aetiology. Early diagnosis of PFH and accurate follow-up is essential to disclose the occurrence of complications.

[Resolution of megaesophagus after treatment of concurrent hypothyroidism in a dog]. / Résolution du mégaoesophage après traitement de l'hypothyroïdie concomitante chez une chienne.

An adult mixbreed female dog is presented with a megaoesophagus. The treatment of a concomitant thyroïdism allowed the total regression of the megaoesophagus. A literature overview is presented, dealing with the correlation between megaoesophagus and hypothyroïdism. Diagnostic and therapeutic possibilities are discussed.