Acta reumatologica portuguesa最新文献

Objectives: After consultations, the physician's perceptions differ from the patient's perceptions concerning illness level, cause, and nature of the problem and content of the consultation. Agreement on problems requiring follow-up was associated with a better outcome. The primary aim of this study was to build and validate an instrument that could assess physician-patient agreement in the rheumatology consultation. The secondary objective was to assess agreement association with patient's clinical and sociodemographic data.

Materials and methods: A ten-item questionnaire - "Consultation Assessment Instrument" (CAI) - was developed for this study to assess the physician-patient agreement. Ten physicians and 102 patients diagnosed with an inflammatory joint disease under biological therapy were included. The items were evaluated and the index of proportional agreement for the dichotomized answers "agree" (Ppos) and "disagree" (Pneg) was calculated.

Results: Consultation satisfaction was the item with the highest agreement. On the opposite end, the item about the explanation of treatment importance was the item with the lowest agreement between patient and physician. Except for one item, the high level of agreement between patient and physician was due to a higher Ppos. Index of proportional agreement was high for 9 of the 10 items (0.816≤ Iv ≤0.990). Patients with lower disease activity scores had a more positive experience. A good internal consistency was obtained for both patient's and physician's questionnaire (α = 0.88 and α = 0.80, respectively).

Conclusions: Both patient and physician showed a positive experience towards Rheumatology consultation. Physician-patient agreement was high in the majority of the consultation aspects (mean Iv = 0,93). A good internal consistency was obtained for both patient's and physician's questionnaire. CAI could be useful as a mental checklist in daily practice or as an educational tool for training consultation skills.

Biological agents revolutionised the treatment of inflammatory arthropathies. Paradoxical adverse events (PAEs) are rare immunological side effects caused by such agents. The authors report concurrent presentation of two rare PAEs of tumor-necrosis-factor alpha inhibitors (iTNFa) - cutaneous vasculitis and granulomatous hepatitis - in a patient with psoriatic arthritis treated with infliximab and briefly discuss aspects of diagnosis, pathophysiology and management of such events in light of the available evidence.

Inclusion body myositis is a rare acquired muscle disease that predominantly affects individuals older than 45 years of age and that has been classified as an idiopathic inflammatory myopathy. However, it has a distinct course being characterized by a slowly progressive weakness and resistance to immunosuppressive therapy. This diagnosis is usually based on a typical clinical presentation, elevated serum skeletal muscle enzymes, electromyographic findings and muscle biopsy. Magnetic Resonance Imaging (MRI) can aid in the diagnosis by directing muscle biopsy sites through accurate localization of muscle involvement, which avoids the high false-negative rate of blind muscle biopsies. MRI can also depict the nature and extent of muscle abnormalities with high signal intensity seen in the active phase and refractory treated patients on fluid-sensitive images. Recently, there has been important progress in the understanding of IBM. These advances may lead to improved diagnosis and the discovery of effective drug treatments for this debilitating entity with usually poor prognosis and high levels of disability.

Objectives: DISH/CC is a poorly understood phenotype characterised by peripheral and axial enthesopathic calcifications, frequently fulfilling the radiological criteria for Diffuse Idiopathic Skeletal Hyperostosis (DISH, MIM 106400), and in some cases associated with Calcium Pyrophosphate Dihydrate (CPPD) Chondrocalcinosis (CC). The concurrence of DISH and CC suggests a shared pathogenic mechanism. In order to identify genetic variants for susceptibility we performed whole exome sequencing in four patients showing this phenotype.

Materials and methods: Exome data were filtered in order to find a variant or a group of variants that could be associated with the DISH/CC phenotype. Variants of interest were subsequently confirmed by Sanger sequencing. Selected variants were screened in a cohort of 65 DISH/CC patients vs 118 controls from Azores. The statistical analysis was performed using PLINK V1.07.

Results: We identified 21 genetic variants in 17 genes that were directly or indirectly related to mineralization, several are predicted to have a strong effect at a protein level. Phylogenetic analysis of altered amino acids indicates that these are either highly conserved in vertebrates or conserved in mammals. In case-control analyses, variant rs34473884 in PPP2R2D was significantly associated with the DISH/CC phenotype (p=0.028; OR=1.789, 95% CI= 1.060 - 3.021)).

Conclusion: The results of the present and preceding studies with the DISH/CC families suggests that the phenotype has a polygenic basis. The PPP2R2D gene could be involved in this phenotype in an as yet unknown way.

Background: Systemic Juvenile Idiopathic Arthritis (sJIA) is a rare systemic inflammatory disease wich represents a subtype of a Juvenile Idiopathic Arthritis (JIA) according to the Classification of Edmonton. It is distinguished from other subtypes by its pathophysiology, systemic extra-articular involvement and treatment. This disease has strong similarities with Adult-onset Still`s Disease (AOSD). These diseases differing mainly in the diagnostic criteria.

Objective: To identify the similarities between sJIA and AOSD given the benefits that a change to the classification criteria would make.

Methods: Research Portuguese and English scientific papers in Pubmed database and published between 1992 and 2019 using the keywords "juvenile idiopathic arthritis"; "systemic juvenile idiopathic arthritis"; "Still´s disease" and "Adult-onset Still`s disease", having been selected the most clinically and historically relevant ones.

Results: The pathophysiology of SJIA has marked differences when compared to other subtypes of JIA, with a more prominent role of innate immunity and an increased production of interleukins (IL-1, IL-6 and IL-18). The sJIA presents several pathophysiological, clinical and analytical similarities with AOSD. Regarding the current diagnostic criteria (Edmonton´s for sJIA and Yamaguchi´s for AOSD), they differ mainly in the presence of arthritis, which is an essential criterion in the classification of Edmonton, while according to the classification of Yamaguchi, it is only required the presence of arthralgia. The requirement of arthritis in the initial presentation leads to delayed diagnosis in patients who present with other features of sJIA. Concerning treatment, new drugs are currently used in sJIA, allowing for a more oriented therapy in those systemic symptoms are the main problem in the long term.

Conclusions: In a pathology associated to great mortality and morbidity as is sJIA, a timely diagnosis is essential, so a highly suggestive clinical history of sJIA, even in the absence of arthritis, can not be disregarded. Thus, a review of the criteria will allow a faster detection of the pathology in question and an earlier onset of the therapy aiming at a better prognosis.

Objective: Ultrasound study of the wrist in patients with suspected entrapment syndrome has severe limitations due to the variability of what is considered normal for the cross-sectional area of the median nerve and where to proceed to measure it. We aim to determine the extent to which different anthropometric variables influence the median nerve area in subjects without carpal tunnel syndrome.

Methods: We conducted an observational study based on a multivariate linear regression analysis using as a dependent variable the area of the median nerve cut at two specific points in the wrist of healthy subjects. The independent variables were sex, age, height, weight, body mass index, finger flexor strength, and carpal circumference.

Major results: The measurements of the median nerve cross-sectional area were normalized using a quadratic fixing procedure. Of all the variables included in the linear regression analysis, only carpal circumference and sex (0: female, 1: male) contributed significantly in the final model using the wrist crease as the measurement point (Constant B=-209.45, carpal circumference coefficient=21.07, sex coefficient 10.87). At four centimeters distal to the carpal fold, the model included the same variables (Constant B=-221.84, carpal circumference coefficient=24.01, and sex coefficient=11.41).

Conclusion: Both the wrist circumference and the sex are variables that should be considered to determine cut-off points of normality in future validation studies about the cross-sectional area of the median nerve.

Spinal hydroxy apatite deposition disease is a scarce condition. It can be misdiagnosed. Clinical signs may be remarkable mimicking an infectious spondylodiscitis. We report a case of a 53-year-old man with acute febrile inflammatory back pain. MRI showed spondylodiscitis of T12-L1 intervertebral disc without abscesses. Spine X-ray revealed a calcifying nucleopathy with a complete disappearance of this calcification during the follow-up. The diagnosis of HADD should be considered in patients with acute inflammatory back pain. We highlight the importance of the relevance of imaging features in making the diagnosis. A total disappearance of the calcification is possible during the follow up.

Ultrasound-guided core biopsy is a minimally invasive technique able to identify lymphoma accompanying Sjögren syndrome, neoplasms or infiltrative diseases, with less complications compared to open biopsy. With these images, we aim to describe the ultrasound-guided core biopsy procedure, in a female patient with rheumatoid arthritis who presented evident inhomogeneity of the parotid gland. The procedure was performed by rheumatologists, trained in ultrasonography of the salivary glands, demonstrating that ultrasound-guided core biopsy is an easy and safe method to obtain salivary gland tissue.