Determination of Relative Weightings for Sacroiliac Joint Pathologies in the OMERACT Juvenile Arthritis Magnetic Resonance Imaging Sacroiliac Joint Score.

This study aims to determine the relative weights (point value) of items of the juvenile idiopathic arthritis magnetic resonance imaging-sacroiliac joint scoring system (JAMRIS-SIJ). An adaptive multicriteria decision analysis was performed using the 1000Minds web application to determine the relative weights of the items in the JAMRIS-SIJ inflammation and damage domains. Experts in imaging and rheumatology independently completed a conjoint analysis survey (CAS) to determine the point value of the measurement items of the JAMRIS-SIJ. Each CAS survey question asked the expert to compare two hypothetical patient profiles, which were otherwise similar but different at two items at a time, and to select which item showed a more severe stage of inflammation or osteochondral damage. In addition, experts ranked 14 JAMRIS-SIJ grade only or image + grade patient vignettes while blinded to the CAS-derived weights. The validity of the weighted JAMRIS-SIJ was tested by comparing the expert CAS-weighted score and the image + grade ranking method. Seventeen experts completed the CAS (11 radiologists and 6 rheumatologists). Considering the point value for inflammation domain items, osteitis (24.7%) and bone marrow edema (24.3%) had higher group-averaged percentage weights compared to inflammation in erosion cavity (16.9%), joint space enhancement (13.1%), joint space fluid (9.1%), capsulitis (7.3%), and enthesitis (4.6%). Similarly, concerning the damage domain, ankylosis (41.3%) and erosion (25.1%) showed higher group-averaged weights compared to backfill (13.9%), sclerosis (10.7%), and fat metaplasia lesion (9.1%). The Spearman correlation coefficients of the CAS-weighted vignette order and unweighted JAMRIS-SIJ grade only order vignettes for all experts were 0.79 for inflammation and 0.80 for damage. The correlations of image vignettes among imaging experts to CAS were 0.75 for inflammation and 0.90 for damage. The multicriteria decision analysis identified differences in relative weights among the JAMRIS-SIJ measurement items. The determination of the relative weights provided expert-driven score scaling and face validity for the JAMRIS-SIJ, enabling the future evaluation of its longitudinal construct validity.

Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.

The age-dependent penetrance of organ manifestations in Marfan syndrome (MFS) is not known. The aims of this follow-up study were to explore how clinical features change over a 10-year period in the same Norwegian MFS cohort. In 2003-2004, we investigated 105 adults for all manifestations in the 1996 Ghent nosology. Ten years later, we performed follow-up investigations of the survivors (n = 48) who consented. Forty-six fulfilled the revised Ghent criteria. Median age: females 51 years, range 32-80 years; males 45 years, range 30-67 years. New aortic root dilatation was detected in patients up to 70 years. Ascending aortic pathology was diagnosed in 93 versus 72% at baseline. Sixty-five percent had undergone aortic surgery compared to 39% at baseline. Pulmonary trunk mean diameter had increased significantly compared to baseline. From inclusion to follow-up, two patients (three eyes) developed ectopia lentis, four developed dural ectasia, four developed scoliosis, three developed incisional or recurrent herniae, and 14 developed hindfoot deformity. No changes were found regarding protrusio acetabuli, spontaneous pneumothorax, or striae atrophicae. The study confirms that knowledge of incidence and progression of organ manifestations throughout life is important for diagnosis, treatment, and follow-up of patients with verified or suspected MFS.

Functional and Structural Adaptations of Skeletal Muscle in Long-Term Juvenile Dermatomyositis: A Controlled Cross-Sectional Study.

OBJECTIVE: To compare muscle strength and endurance of the knee extensors between patients with long-term juvenile dermatomyositis (DM) and controls and between patients with active disease and those with inactive disease, and to explore associations between strength/endurance and 1) clinical parameters, 2) physical activity, and 3) humoral/structural adaptation in the skeletal muscle of patients. METHODS: In a cross-sectional study (44 patients and 44 age- and sex-matched controls), we tested isometric muscle strength (peak torque, in Nm) and dynamic muscle endurance (total work, in Joules) of the knee extensors, physical activity (measured by accelerometer), and serum myokine levels (by enzyme-linked immunosorbent assay). Patients were examined with validated tools (clinical muscle tests and measures of disease activity/damage and inactive disease) and using magnetic resonance imaging of the thigh muscles, which included evaluation of the quadriceps cross-sectional area (CSA). Needle biopsy samples of the vastus lateralis muscle (obtained from 12 patients ages ≥18 years) were assessed by histochemistry. RESULTS: After a mean ± SD disease duration of 21.8 ± 11.8 years, peak torque was lower in patients with juvenile DM compared to controls (mean difference 29 Nm, 95% confidence interval 13-46; P = 0.001). Similarly, total work of the knee extensors was lower in patients compared to controls (median 738J [interquartile range 565-1,155] versus 1,249J [interquartile range 815-1,665]; P < 0.001). Both peak torque and total work were lower in patients with active juvenile DM compared to those with inactive disease (both P < 0.019); in analyses controlled for quadriceps CSA, only total work remained lower in patients with active disease. Moreover, peak torque and total work correlated with findings from clinical muscle tests in patients with active disease (r = 0.57-0.84). Muscle biopsy results indicated that the fiber type composition was different, but capillary density was similar, between patients with active disease and those with inactive disease. CONCLUSION: In patients with long-term juvenile DM, both muscle strength and endurance of the knee extensors were lower when compared to matched controls, and also lower in patients with active disease compared to those with inactive disease. Our results indicate a need for more sensitive muscle tests in this clinical setting. We hypothesize that impaired muscle endurance in patients with active juvenile DM may be influenced by structural/functional adaptations of muscle tissue independent of muscle size.

[A man in his forties with swelling in both orbits]. / En mann i 40-årene med hevelse i begge øyehuler.

UNLABELLED: Erdheim-Chester disease. A multi-disiplinary challenge. The histiocytoses are a diverse, but rare group of disorders with symptoms affecting many organs, varying from self-limiting, localised lesions to disseminated multi-organ disease. The diagnostic challenges are illustrated and discussed in the following case. CASE REPORT: A man in his forties was admitted to hospital due to pain in his right eye and visual disturbances. MRI imaging detected a mass in his right orbit and a minor mass in his left orbit. The histological results of the mass in his right orbit revealed an inflammatory process with lymphocytes and macrophages and no sign of vasculitis, infection or malignancy. The diagnosis pseudotumor orbita was made and treatment with corticosteroids was initiated. He did not respond to corticosteroids or radiotherapy and increasing symptoms necessitated rehospitalisation. Further tests disclosed a multisystem disease which affected the aorta, skeleton, lung, heart and kidney. The biopsy was reconsidered and the disease was classified as a histiocytosis with CD68 positive and CD1a negative cells. The diagnosis Erdheim-Chester was given, about 14 months after the initial hospitalisation. Treatment with interferon α was started.

Grice arthrodesis in the treatment of valgus feet in children with myelomeningocele: a 12.8-year follow-up study.

PURPOSE: Neurological deficit resulting in the lack of motor control in children with myelomeningocele often leads to a valgus position of the feet and ankles, usually in combination with planovalgus and pronation of the forefoot. The purpose of the study was to evaluate long-term patient satisfaction and clinical effects in ambulating children with lumbosacral myelomeningocele after having performed a Grice arthrodesis of a valgus unstable foot. The clinically most relevant radiographic measurements, such as the frontal and lateral talo-calcaneal angles, were used to evaluate the anatomical effects of the surgery, whereas the main research question was to reveal the patient satisfaction and usefulness of the procedure. METHODS: The modified Grice-Green extraarticular subtalar arthrodesis was performed by the same surgeon on one standing and 22 walking patients (12 female) with lumbosacral myelomeningocele and valgus instability during the period 1985-1999. Twelve patients had bilateral surgery, giving a total of 35 operated feet. The patients attended a thorough check-up at a mean of 12.8 years (standard deviation [SD] +/- 3.2, range 7.7-20.2 years) after surgery. The mean age at surgery was 6.6 years (SD +/- 1.8) and at follow-up 19.4 years (SD +/- 3.8). Functional parameters, such as walking ability, pain and skin problems, and the need for braces and supportive orthopaedic shoes were noted at the follow-up interview. The parents were interviewed along with the patients in order to obtain all of the necessary information. Loaded radiographs in the lateral and frontal planes were taken of both feet and ankles pre-operatively and at follow-up, except for pre-operative radiographs in six patients that were not loaded and, thus, not included, except for the assessment of ankle valgus. Ankle valgus was assessed from lateral and frontal views of the ankle on a scale from grade 0 to grade 3 according to Malhotra. Frontal and lateral talo-calcaneal angles were measured for the assessment of subtalar varus or valgus. Lateral talo-first-metatarsal (Meary's) angles were measured to investigate the longitudinal arches of the feet. RESULTS: The mean lateral talo-calcaneal angle was reduced significantly (P < 001) from 55.1 degrees (SD +/- 8.9) to 38.8 degrees (SD +/- 8.1). The mean frontal talo-calcaneal angle was reduced from 24.7 degrees (SD +/- 9.7) pre-operatively to 16.6 degrees (SD +/- 6.3) at follow-up (P < 0.001). The mean lateral talo-first-metatarsal angle improved significantly from -16.1 degrees (SD +/- 24.7) pre-operatively to 0.9 degrees (SD +/- 15.1) at follow-up (P = 0.0015). The calcaneal pitch did not change significantly. In general, ankle valgus worsened during follow-up time, but not significantly (P = 0.113). The visual analogue scale (VAS) score of patient satisfaction improved significantly from 3.7 (SD +/- 1.7) prior to surgery to 7.2 (SD +/- 1.5) at follow-up (P < 0.005). Nineteen patients (83%) were satisfied with the surgery and would thus recommend the procedure. CONCLUSIONS: Based on the radiological findings and patient satisfaction, the patients participating in this study benefited from having had Grice arthrodeses performed on their valgus unstable feet. The results indicate good long-term correctional effect on valgus deformity after Grice arthrodesis, as the talo-calcaneal and talo-first-metatarsal angles improved significantly. A great majority of the patients were content with the surgery, and none claimed that any residual deformity was the cause for any reduced ability to ambulate.