Zoraida Sachetto

Ehlers-Danlos syndrome type IV and multiple aortic aneurysms : A case report

The aim of this randomized, placebo-controlled study was to evaluate the effect of local treatment with Essaven gel (EG) in comparison with placebo in 30 patients with superficial vein thrombosis (SVT). The 4-week study evaluated the average skin temperature and an analogue symptomatic score. Below-knee SVT was associated with large varicose veins. In patients treated with active EG the decrease in score and in the average, composite skin temperature was significantly larger than in the placebo and control groups. No intolerance was observed. The decrease in score and temperature in the placebo group was mainly due to skin manipulation and massage. In conclusion, treatment with EG in SVT improves symptoms and decreases skin temperature faster. This study confirms earlier observations on the effective use of EG in SVT.Beside atherosclerosis, aortic aneurysms can be part of the clinical spectrum of many systemic diseases, including infectious, inflammatory, genetic and, less often, congenital disorders. A 48- year-old white man presented with multiple large aneurysms of the aorta and its main branches. Medical history was unremarkable except for the presence of a softened abdominal mass since he was 28 years old. On the physical examination, an arterial murmur was heard over the left carotid artery and a palpable mass was noted in the whole right side of the abdomen. No skin or joint abnormalities were noted. Aortography, computed tomography, and magnetic resonance angiography showed multiple large aneurysms of the descending thoracic and abdominal aorta. Aneurysms of the innominate, left subclavian, and carotid arteries were also seen. This case resembles those previously reported, in which multiple aortic aneurysms were associated with abnormalities of the type III procollagen gene (COL3A1). Although the classic stigmas of the Ehlers-Danlos syndrome type IV were lacking, this genetic disease may be the cause of the multiple aneurysms in this patient.

Intestinal Ischemia as a Single Manifestation of Thromboangiitis Obliterans: A Case Report

Thromboangiitis obliterans (TAO) is an inflammatory, nonocclusive, and nonatherosclerotic vascular disease. It commonly affects arteries, veins, and surrounding neural elements and is directly related to smoking. Although distal vessels of lower and upper extremities are the most commonly involved, other vessels such as intestinal arteries can be rarely affected. The authors describe a 41-year-old white male smoker who presented with abdominal pain for 3 months and developed an acute bowel ischemia. He underwent urgent surgery, and segmental enterectomy was performed. Histopathologic findings were suggestive of TAO, showing typical involvement of small-sized veins and arteries with intact internal elastic lamina, preserved media, a local nonspecific inflammatory reaction, with new and older arterial and venous thromboses associated. Although mesenteric arteries are seldom injured by TAO, this diagnosis must be considered when the usual causes of intestinal ischemia are ruled out. In this case, even without any other clinical symptoms of TAO, this rare diagnosis could be made.

HLA markers for poor prognosis in systemic sclerosis Brazilian patients.

Objectives. The aim of this study was to evaluate human leukocyte antigen (HLA) involvement in the disease expression and poor prognostic clinical features (pulmonary fibrosis and pulmonary arterial hypertension) in patients diagnosed with systemic sclerosis (SSc) in a multiethnic population. Methods. SSc patients followed up between 2008 and 2011 were included, and clinical data were obtained through records review. Molecular HLA typing was performed (polymerase chain reaction amplification technique using specific primer sequences). The statistical analysis involved Fishers exact test and Pearsons corrected chi-square test. P  values ≤ 0.05 were considered significant. The delta method was used to estimate the variance of the prevalence ratio (PR). Results. A total of 141 patients (120 women and 21 men) with SSc were studied, including 33.3% with diffuse cutaneous SSc (dcSSc), 62.4% with limited cutaneous SSc (lcSSc), and 4.3% with sine scleroderma. Pulmonary fibrosis was present in 61 patients (43.3%), and the HLA-A∗30 and DQB1∗04 alleles were related to susceptibility. In contrast, the HLA-DRB1∗01 and DQB1∗05 alleles were protective. Pulmonary arterial hypertension was diagnosed in 19 patients (13.5%) and was associated with HLA-B∗35 and C∗04; in contrast, C∗03 seemed to be protective. Conclusions. Our current study documents the association of some classes I and II HLA alleles with the most severe clinical manifestations in a multiethnic case series. Our findings differed slightly from the previous data in other populations.

No evidence of parvovirus B19 in tissue samples from patients with polyarteritis nodosa and microscopic polyangiitis as assessed by the polymerase chain reaction

Parvovirus B19 (B19) has been implicated in the aetiopathogenesis of some cases of systemic vasculitis, mainly giant cell arteritis.1 A positive serological test for B19 has been reported in a few patients with polyarteritis nodosa (PAN).2–4 As far as we know no studies of B19 DNA in tissue samples of patients with PAN have been published, so we used a nested polymerase chain reaction (PCR) approach to screen for B19 DNA in fixed paraffin embedded tissue samples from patients with PAN and microscopic polyangiitis (MPA). The diagnosis was based on the Chapell-Hill Consensus Conference guidelines.5 Only tissue samples from patients with vasculitis were used for DNA preparations. DNA was extracted using a commercial kit (DNeasy tissue kit, Quiagen). A nested PCR for B19 was carried out using a previously published set …

Síndrome de Churg Strauss: uma vasculite rara

The aim of this report is to verify the demographic, clinical, laboratorial and histopathological findings of patients with CSS followed in a University Clinical Hospital. We reviewed the medical records of all patients with the diagnosis of CSS. Only patients who fulfilled ACR criteria were included. Five Caucasian patients were found, with a sex ratio M/F: 3/2. The mean age at disease onset was 46 years old (40 to 55) and the mean time of follow-up was 2.37 years (0.25 to 6). General symptoms, asthma, peripheral neuropathy and skin lesions were the most common clinical findings in all patients. Cardiovascular, gastrointestinal and renal involvement was found in one patient each. All patients presented hypereosinophilia (> 10%) and p-ANCA was present in 3 patients. The chest x-ray showed pulmonary parenchymal infiltrate in 2 cases and in 1 of them an unilateral pleural effusion. Skin biopsies showed extravascular eosinophylia in 3 out of 4. All patients were treated with prednisone and in 3 it was added immunosuppressive drug. No patient died during the follow-up. CSS is a rare disease with a multivisceral involvement and asthma is the main and the earliest symptom. General symptoms and involvement of skin and peripheral nerves were found in all patients. Renal, cardiovascular and gastrointestinal involvement was rare, differently from the literature series where these findings are more frequent. In spite of the CSS being a serious and life-threatening disease, these patients presented adequate response to the treatment and a favorable outcome.

The role of KIR2DL3/HLA-C*0802 in Brazilian patients with rheumatoid vasculitis

OBJECTIVES: Rheumatoid arthritis is a polygenically controlled systemic autoimmune disease. Rheumatoid vasculitis is an important extra-articular phenotype of rheumatoid arthritis that can result in deep cutaneous ulcers. The objective of this study was to establish a correlation between the frequency of major histocompatibility complex class I/II alleles and killer immunoglobulin-like receptor genotypes in patients with cutaneous rheumatoid vasculitis. METHODS: Using the Scott & Bacon 1984 criteria to diagnose rheumatoid vasculitis and after excluding any other causes such as diabetes, atherosclerosis, adverse drug reactions, infection, and smoking, patients who met the criteria were selected. All of the selected rheumatoid vasculitis patients presented deep cutaneous ulcers. Identification of the major histocompatibility complex class I/II and killer immunoglobulin-like receptor genotypes was performed by polymerase chain reaction assays of samples collected from the 23 rheumatoid vasculitis patients as well as from 80 controls (40 non-rheumatoid vasculitis RA control patients and 40 healthy volunteers). RESULTS: An association between the presence of the HLA-DRB1*1402 and HLA-DRB1*0101 alleles and cutaneous lesions in rheumatoid vasculitis patients and a correlation between the inhibitor KIR2DL3 and the HLA-C*0802 ligand in rheumatoid vasculitis patients were found. CONCLUSION: An association was found between the presence of the HLA-DRB1*1402 and HLA-DRB1*0101 alleles and the development of cutaneous lesions in rheumatoid vasculitis patients. Additionally, the HLA-C*0802 ligand protects these individuals from developing cutaneous lesions.

Differential diagnosis of optic neuritis in a patient with ankylosing spondylitis

The authors report a 38-year-old white man with ankylosing spondylitis (AS) who presented with recurrent ischaemic optic neuritis. The initial diagnosis was of multiple sclerosis, but further investigation showed serology and cerebrospinal fluid culture positive for syphilis. After treatment for tertiary syphilis with penicillin, there was complete remission of the ocular symptoms. This case illustrates the differential diagnosis of optic neuritis in AS and supports the relevance of investigating infectious diseases in the management of ischaemic optic neuritis.

Espectro do envolvimento do sistema nervoso central em doenças reumatológicas: ensaio iconográfico

The rheumatic diseases, which include systemic lupus erythematosus, rheumatoid arthritis, Behçets disease, scleroderma, and ankylosing spondylitis, are characterized by involvement of connective tissue, with multiple manifestations. In those diseases, there can be involvement of the peripheral or central nervous system, and that involvement can be primary, presenting as a major feature of the clinical presentation, or secondary, as an effect of the drugs used in order to control a given disease or its complications. Knowledge of the wide variety of imaging findings is crucial to the diagnosis of a rheumatic disease, especially in the early stages, enabling effective treatment and minimizing disability. This pictorial essay, presenting cases from the records of two tertiary teaching hospitals, encompasses cases of patients diagnosed with rheumatic disease and illustrates the neuroradiological findings on magnetic resonance imaging and computed tomography, in order to emphasize the importance of these methods for properly diagnosing rheumatic diseases.The rheumatic diseases, which include systemic lupus erythematosus, rheumatoid arthritis, Behcets disease, scleroderma, and ankylosing spondylitis, are characterized by involvement of connective tissue, with multiple manifestations. In those diseases, there can be involvement of the peripheral or central nervous system, and that involvement can be primary, presenting as a major feature of the clinical presentation, or secondary, as an effect of the drugs used in order to control a given disease or its complications. Knowledge of the wide variety of imaging findings is crucial to the diagnosis of a rheumatic disease, especially in the early stages, enabling effective treatment and minimizing disability. This pictorial essay, presenting cases from the records of two tertiary teaching hospitals, encompasses cases of patients diagnosed with rheumatic disease and illustrates the neuroradiological findings on magnetic resonance imaging and computed tomography, in order to emphasize the importance of these methods for properly diagnosing rheumatic diseases.

The effect of flat and textured insoles on the balance of primary care elderly people: a randomized controlled clinical trial

Background Aging is associated with reduced postural stability and increased fall risk. Foot orthoses have been reported as an adjuvant intervention to improve balance by stimulating foot plantar mechanical receptors and thus increasing somatosensory input. Purpose The aim of this study is to evaluate the effect of flat and textured insoles on the balance of primary care elderly people. Design Prospective, parallel, randomized, and single-blind trial. Methods A total of 100 subjects from a primary care unit, aged ≥65 years, were randomly assigned to intervention groups with flat insoles (n=33), textured insoles (n=33), or control group (n=34) without insoles. The Berg Balance Scale and the Timed Up and Go test were assessed at baseline and after 4 weeks. Results Improvements in the Berg Balance Scale and the Timed Up and Go test were noted only in intervention groups with insoles but not in control group. No significant difference was found between flat and textured insoles. Minor adverse effects were noted only in the group with textured insoles. Conclusion The results suggest that foot orthoses (both flat and textured insoles) are effective in improving balance in primary care elderly people. They may represent a low-cost and high-availability adjuvant strategy to improve balance and prevent falls in this population.

THU0167 Falls in rheumatoid arthritis (RA) and its relation to disease activity, disability and physical performance tests

Background Rheumatoid patients(RA)are known to have an increased falls incidence with a threefold increased risk of hip fracture. Few studies have been conducted to evaluate the relation between falls, disease activity, disability and physical functioning. Objectives To evaluate the prevalence of falls in RA and its relation with disease activity, disability and physical performance tests. Methods 113 RA patients were evaluated from the outpatient clinic of the Rheumatology Division of the State University of Campinas/Unicamp. Patients were assessed for occurrence of falls in last year, fear of falling, sociodemographic and clinical data (medication, visual impairment, vertigo, physical activity, body mass index, disease duration, rheumatoid factor, lower limb swollen and tender joints, foot tactile sensitivity, disease activity-CDAI and disability-HAQ). Subjects were submitted to Berg Balance Scale-BBS, the Timed Up and Go Test-TUG and 5-Time Sit Down-to-Stand Up Test-SST5 and were divided in “Fallers” and “Non-Fallers” groups. For comparison of groups the chi-squared test, Fisher’s exact test and Mann-Whitney were used. Univariate linear regression and multivariate analysis were used to analyse the relation between sociodemographic, clinical data and physical tests with the occurrence of falls. Kruskal- Wallis test was used for analysis of the association of BBS, TUG and SST5 with CDAI and HAQ. The data were analysed with a 5% level of significance. Results 52.21% reported the occurrence of falls in the past 12 months and 62.8%were fearful of falling. Comparing “Fallers” and “Non-Fallers”, significant differences were noted for HAQ(p=0.0242), fear of falling(p=0.0196) and BBS(p=0.0120). After univariate logistic regression there was association of falls with income(OR 1.05), HAQ(OR 1.945), fear of falling(OR 2.586) and TUG (OR 1.09). In multivariate model, income was independently linked to falls(OR 1.07). BBS, TUG, SST5 were correlated with CDAI and HAQ(p<0.05). Conclusions RA patients have high prevalence of falls and fear of falling. Income was an independent fall risk factor. BBS seems to be higher among fallers and TUG can be considered a fall risk predictor. BBS, TUG and SST5 are related to CDAI and HAQ. CDAI does not seems to be a good instrument to predict falls due to its variability over time. In clinical practice, HAQ can be a valuable tool to recognise patients with an increased risk of falls. References [1] Stanmore EK, Oldham J, Skelton DA, et al. Risk factors for falls in adults with rheumatoid arthritis: a prospective study. Arthritis Care Res2013Aug;65(8):1251–8. [2] Brenton-Rule A, Dalbeth N, Menz HB, et al. The incidence and risk factors for falls in adults with rheumatoid arthritis: a systematic review. Semin Arthritis Rheum2014;44:389–98. [3] Podsiadlo D, Richardson S. The timed “Up & Go”: a test of basic functional mobility for frail elderly persons. J AmGeriatr Soc1991; 39:142–8.16. [4] Berg KO, Maki BE, Williams JI, et al. Clinical and laboratory measures of postural balance in an elderly population. Arch Phys Med Rehabil1992;73:1073–1080. [5] Bohannon RW. Test-retest reliability of the five-repetition sit-to-stand test: a systematic review of the literature involving adults. J Strength Cond Res2011; 25:3205–7. Disclosure of Interest None declared