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Devic disease (neuromyelitis optica [NMO]) is an idiopathic inflammatory demyelinating and necrotizing disease characterized by optic neuritis and transverse myelitis, either simultaneously or in isolation. NMO is often idiopathic but may also be associated with systemic autoimmune disease. The prognosis of NMO is severe, especially in those with early and recurrent relapses. MRI studies have revealed that most frequently, there is a long spinal cord lesion that extends through three or more vertebral segments in length. NMO-IgG is the first antibody marker for any inflammatory central nervous system disorder and is both sensitive and specific for NMO. The identification of NMO-IgG in patients with recurrent optic neuritis or longitudinally extensive myelitis and its ability to predict subsequent relapse support the concept of a spectrum of NMO disorders. Treatment in the acute phase includes intravenous steroids and plasma exchange therapy. Immunosuppressive agents are recommended for the prophylaxis of relapses.

Objective: To describe differential characteristics of axial involvement in ankylosing spondylitis (AS) as compared with that seen in psoriatic arthritis (PsA) and inflammatory bowel disease (IBD) in a cohort of Ibero-American patients., Methods: This study included 2044 consecutive patients with spondyloarthritis (SpA; ESSG criteria). Demographic, clinical, disease activity, functional ability, quality of life, work status, radiologic, and therapeutic data were evaluated and collected by RESPONDIA members from different Ibero-American countries between June and December 2006. Patients selected for analysis met modified New York criteria (mNY) for AS., Results: A total of 1264 patients met the New York criteria for AS: 1072 had primary AS, 147 had psoriatic, and 45 had IBD-associated spondylitis. Median disease duration was comparable among the 3 patient groups. Patients with primary AS were significantly younger (p = 0.01) and presented a higher frequency of males (p = 0.01) than the other 2 groups. Axial manifestations such as inflammatory back pain and sacroiliac pain were significantly more frequent in patients with primary AS (p = 0.05) versus other groups, whereas frequency of dactylitis, enthesitis, and peripheral arthritis was more common in patients with psoriatic spondylitis (p = 0.05). Spinal mobility was significantly more limited in patients with primary AS versus the other 2 groups (p = 0.0001). Radiologic changes according to BASRI total score were equally significant in primary AS. Disease activity (BASDAI), functional ability (BASFI), and quality of life (ASQoL) scores were comparable in the 3 groups., Conclusion: Patients with primary AS had more severe axial involvement than those with spondylitis associated with psoriasis or IBD. Functional capacity, disease activity, and quality of life were comparable among the groups studied.

Objective: To examine the main clinical and laboratory data of patients initially diagnosed with polymyalgia rheumatica (PMR), which then developed another conditions., Material and Methods: We reviewed the clinical records of patients diagnosed with PMR in three hospitals in Argentina. Patients had a diagnosis of PMR if they met the following criteria: age ≥ 50 years, erythrocyte sedimentation rate (ESR) at the time of diagnosis > 40 mm, persistent pain and stiffness of at least one month of evolution in two of the following areas: neck, shoulders or proximal arms, hips or proximal lower limbs. Special attention was paid to symptoms or signs of "alarm" (beginning or during disease progression) for suspecting the presence of other non PMR disease within a period of ≤ 12 months., Results: Sixteen of the 200 patients (8%) had other diseases during follow up. Malignancies (n=4) and rheumatic diseases (n=4) were the most common entities, in addition to infective endocarditis (n=1), narrow cervical canal (n=1), Parkinson's disease (n=1), statin-related myalgia (n=1), hypothyroidism (n=1), vitamin D deficiency (n=1) and Calcium Pyrophosphate Deposition Disease (CPDD) (n=2). The average length change of diagnosis was 4.5±3 months. Ten patients had no response to steroids and two had persistently elevated ESR., Conclusion: In this study we highlight the importance of recognizing signs and symptoms along with laboratory data and lack of response to treatment as suspects for the diagnosis of other disease manifestations in patients with PMR symptoms., (Copyright © 2010 Elsevier España, S.L. All rights reserved.)

Objective: The aim of the present study is to describe the general characteristics of a cohort of patients with early arthritis in Argentina., Methods: CONAART (Consorcio Argentino de Artritis Temprana--Argentine Consortium for Early Arthritis) is an initiative of seven rheumatology centres across Argentina. Patients were included if they had at least one or more swollen joints and <2 years of disease duration. Social, demographic, familiar, hereditary, clinical and laboratory data were recollected. At first visit and every year, X-rays of hands and feet were performed and working characteristics and pharmaco-economic data were re-collected., Results: A total of 413 patients were included. Of them, 327 (79.2%) were women with a median age of 49 years and a median disease duration of 6 months. Of the total, 183 (44.3%) had RA (ACR 1987) and 167 (40.4%) undifferentiated arthritis (UA). Other diagnoses included: 12 crystalics, 11 PsA, 6 uSpA, 6 other CTD, 1 AS and 27 other diagnosis. As 85% of our population had RA and UA, we only compared these two groups of patients. Patients with RA had significantly worse activity parameters of the disease (DAS of 28 joints), functional capacity (HAQ) and quality of life (Rheumatoid Arthritis Quality of Life) than patients with UA. The frequency of RF and anti-CCP, and symmetrical distribution were also significantly higher in patients with RA compared with UA patients. All patients with RA initiated early specific treatment, in a period no longer than 6 months from the beginning of the disease., Conclusion: Early arthritis clinics are a useful tool to identify and treat patients with different forms of joint involvement.

Calciphylaxis is the tissue sensitivity to calcification, described mainly in patients with chronic renal insufficiency, renal transplant of parathyroid dysfunction. There is only one case described in a patient with rheumatoid arthritis, without renal dysfunction, nor hyperparathyroidism. We present the second case in a woman with inactive rheumatoid arthritis.

Objective: To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BANK1 variants, which were previously identified as systemic lupus erythematosus (SLE) susceptibility markers, to test whether they are associated with rheumatoid arthritis (RA)., Methods: Four different cohorts were included in the study: 1,080 RA patients and 1,368 healthy controls from Spain, 278 RA patients and 568 healthy controls from Sweden, 288 RA patients and 287 healthy controls from Argentina, and 288 RA patients and 288 healthy controls from Mexico. Samples were genotyped for BANK1 single-nucleotide polymorphisms (SNPs) using a TaqMan 5'-allele discrimination assay. Statistical analysis comparing allele and genotype distributions was performed with the chi-square test., Results: We did not find a significant association between RA and the rs10516487 and rs17266594 BANK1 polymorphisms. However, there was an increase in the major alleles among RA patients. Similarly, for rs3733197, there was an increase in the major allele among patients in every cohort. Nevertheless, this skewing reached statistical significance in the Spanish (P = 0.01, odds ratio [OR] 1.17 [95% confidence interval (95% CI) 1.03-1.32]) and Argentinean (P = 0.04, OR 1.31 [95% CI 1.00-1.72]) populations. We found a significant association of rs10516487 (P = 0.005, OR 1.15 [95% CI 1.04-1.28]) and rs3733197 (P = 0.0009, OR 1.17 [95% CI 1.07-1.29]) with RA in the pooled analysis. In a 3-SNP haplotype analysis, we found that the major TGG haplotype was significantly associated with RA (P = 0.005, OR 1.14 [95% CI 1.04-1.25]). In addition, we found a common CAA haplotype that was protective against RA (P = 0.0004, OR 0.82 [95% CI 0.74-0.92])., Conclusion: These results suggest that BANK1 SNPs and haplotypes may contribute to RA susceptibility with a low risk.

Chronic intestinal pseudo-obstruction (CIPO), a recently recognized manifestation of systemic lupus erythematosus (SLE) with only 23 cases reported in the English literature, may appear as a complication or as the initial presentation of SLE and usually occurs during the setting of an active lupus. The pathogenic mechanism in SLE is unknown. We describe four additional cases with clinical, radiological, and manometric features of CIPO. As SLE-related CIPO usually responds to treatment with high doses of corticosteroids and/or immunosuppressive and prokinetic agents, a high level of awareness of this complication is needed to avoid unnecessary surgical intervention.

The goals of this study were to ascertain damage in patients with systemic lupus erythematosus (SLE) from five rheumatologic centres in Argentina and to examine overall damage, damage by domain and damage by item within each domain. We performed a retrospective observational study including patients with SLE (ACR 1997 revised and modified criteria) from five rheumatology centres in Argentina. Organ damage was scored using the SLICC/ACR DI (SDI), ascertained at years 1, 2, 5 and 10. Three centres provided information up to the fifth year. Of the 197 patients, 88.3% were women and their mean age was 33.2 years. The mean disease duration and follow-up were 7.6 and 5.3 years, respectively. Damage accrued gradually over time with SDI ranging from 0.52 (+/-1.1) at year 1 up to 2.46 (+/-2.1) at year 10. The renal system was the most involved system, followed by the neuropsychiatric, the cardiovascular and the musculoskeletal systems. Proteinuria, cognitive impairment, pericarditis, avascular necrosis, cataract and alopecia were the predominant items in their respective systems. Systems such as peripheral vascular, pulmonary, gastrointestinal, diabetes, malignancy and premature gonadal failure were not frequent. Overall SDI had a gradual increase over time. Damage in each domain of SDI, except for diabetes, had a similar behaviour. Behaviour of items in each domain varied.

Pachydermodactyly (PDD) is a rare, benign form of digital fibromatosis characterized by an asymptomatic soft tissue swelling affecting the skin of the lateral aspects of the proximal interphalangeal joints of the fingers, and it sometimes can be misdiagnosed with some rheumatic condition. Recognition on these features should lead to its more frequent diagnosis. The purpose of our study is to report four additional cases of PDD and discuss the differential diagnosis.

Argentine population genetic structure was examined using a set of 78 ancestry informative markers (AIMs) to assess the contributions of European, Amerindian, and African ancestry in 94 individuals members of this population. Using the Bayesian clustering algorithm STRUCTURE, the mean European contribution was 78%, the Amerindian contribution was 19.4%, and the African contribution was 2.5%. Similar results were found using weighted least mean square method: European, 80.2%; Amerindian, 18.1%; and African, 1.7%. Consistent with previous studies the current results showed very few individuals (four of 94) with greater than 10% African admixture. Notably, when individual admixture was examined, the Amerindian and European admixture showed a very large variance and individual Amerindian contribution ranged from 1.5 to 84.5% in the 94 individual Argentine subjects. These results indicate that admixture must be considered when clinical epidemiology or case control genetic analyses are studied in this population. Moreover, the current study provides a set of informative SNPs that can be used to ascertain or control for this potentially hidden stratification. In addition, the large variance in admixture proportions in individual Argentine subjects shown by this study suggests that this population is appropriate for future admixture mapping studies., ((c) 2006 Wiley-Liss, Inc.)

Objective: Recent findings suggest that interferon regulatory factor 5 (IRF-5) may play a crucial role in several cellular processes, including the transcription of genes for inflammatory cytokines. Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the 3'-untranslated region) have been shown to exert functional modifications affecting IRF5 messenger RNA splicing and expression, and have been associated with genetic predisposition to systemic lupus erythematosus (SLE). The aim of this study was to analyze the possible contribution of the IRF5 gene to the predisposition to rheumatoid arthritis (RA)., Methods: Three case-control cohorts from Spain (724 RA patients and 542 healthy controls), Sweden (281 RA patients 474 healthy controls), and Argentina (284 RA patients and 286 healthy controls) were independently analyzed. Genotyping for IRF5 rs2004640 and rs2280714 was performed using a TaqMan 5' allele-discrimination assay., Results: In the 3 cohorts studied, no statistically significant differences in allele or genotype frequencies of the rs2004640 and rs2280714 IRF5 polymorphisms were observed between RA patients and controls. Accordingly, haplotype analysis revealed that none of the IRF5 haplotypes was associated with genetic predisposition to RA., Conclusion: Our results suggest that the IRF5 functional polymorphisms analyzed do not seem to be implicated in genetic susceptibility to RA.

Serum cytidine deaminase (CD) as a marker of inflammatory disease was assessed in 44 patients and 47 controls to differentiate polymyalgia rheumatica (PMR) from elderly onset rheumatoid arthritis (EORA). The patients were divided into four groups: PMR with and without synovitis and seropositive and seronegative EORA. No statistically significant differences were found when serum CD levels of seropositive EORA patients were compared with serum CD of PMR patients without synovitis, neither when serum CD levels of all PMR patients were compared with a seronegative EORA group, nor when serum CD levels of PMR patients with synovitis were compared with those with EORA. Nevertheless, statistically significant differences were detected between EORA's serum CD levels and the control group (p=0.023). This difference was 10% when comparing CD levels of PMR patients with the control group (p=0.070). We did not demonstrate that serum CD levels could be a useful tool to differentiate PMR from EORA, but these findings could nevertheless reflect the presence of an inflammatory disease.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of autoantibodies against intracellular components, the formation of immune complexes, and inflammation in various organs, typically the skin and kidney glomeruli. The etiology of the disease is not well understood but is most likely the result of the interaction between genetic and environmental factors. In order to identify susceptibility loci for SLE, we have performed genome scans with microsatellite markers covering the whole genome in families from Argentina, Italy, and Europe. The results reveal a heterogeneous disease with different susceptibility loci in different family sets. We have found significant linkage to chromosome 17p12-q11 in the Argentine set of families. The maximum LOD score was given by marker D17S1294 in combination with D17S1293, when assuming a dominant inheritance model (Z = 3.88). We also analyzed a repeat in the promoter region of the NOS2A gene, a strong candidate gene in the region, but no association was found. The locus on chromosome 17 has previously been identified in genetic studies of multiple sclerosis families. Several other interesting regions were found at 1p35, 1q31, 3q26, 5p15, 11q23 and 19q13, confirming previously identified loci for SLE or other autoimmune diseases., (Copyright 2004 Springer-Verlag)

We describe four patients with widespread cutaneous necrosis as a manifestation of the antiphospholipid antibody syndrome. In three of the patients, the lesions were the first manifestation of the syndrome, and they were located in upper and lower extremities. Vascular thrombosis was present in the skin biopsy in all of the patients. Patients were effectively treated with anticoagulants, and healing occurred within 60 days. Such widespread cutaneous necrosis is a rare manifestation of the syndrome, and it must be regarded as major thrombotic event. Long-term treatment with anticoagulants must be considered. The recognition of these lesions is important, because they may be the onset of the syndrome, allowing its early diagnosis and treatment.

Hansen's disease is a chronic granulomatous disease of infectious origin. It has a worldwide distribution and a variety of clinical manifestations often involving the skin, nasal mucosa, and peripheral nerves. Lepromatous leprosy characterizes the condition of a large group of patients with little or no resistence to the infection. Several forms of lepromatous leprosy are recognized, including macular, nodular, and diffuse. Lucio's phenomenon is a rare but distinctive skin eruption seen in patients with diffuse lepromatous leprosy. The diffuse lesions of Lucio's phenomenon have a predilection for the extremities, can include nodules, and heal with atrophic stellate scars; histologically, a necrotizing vasculitis accompanied by a nonspecific inflammatory reaction may be seen. We describe two patients with Lucio's phenomenon who presented with nontender, painless, skin lesions with nodules in part perceptible only by palpation. Both patients were treated with multidrug therapy, and immunosuppressive doses of steroids as the suggested optimal treatment for this reactional state. However, Lucio's phenomenon is frequently fatal as a result of bacterial infection or sepsis, and both patients reported here died. We call attention to this particular and unusual skin manifestation of lepromatous leprosy, which can mimic rheumatic disease and other causes of vasculitis. This is especially likely to be unrecognized in nonendemic countries but cases will occasionally be seen in this age of extensive international travel.

Objective: To analyze the factors associated with mortality, survival and causes of death in patients with systemic lupus erythematosus (SLE) in Argentina., Patients and Method: A series of 366 patients with SLE (45 men and 321 women), mean age 29 y (range 11-70 y) and mean disease duration 6 y, was evaluated from 1990 to 1998. A total of 57 clinical, serological and therapeutic variables were studied., Results: Five- and 10-year survival was 91% and 85% respectively. Forty four patients died (12%): 54% due to sepsis and 32% due to active SLE. Mortality risk factors included heart involvement CRR 3.82), hyperlipidemia (RR 2.72), renal damage (RR 2. 62), infections (RR 2.44), lung disease (RR 2.20) and myositis (RR 2. 07). High-dose prednisone (RR 3.4) or cyclophosphamide (RR 9.19) treatments increased the risk of sepsis (P=0.003) as a cause of death. However, corticosteroids, antimalarial agents and accumulated cyclophosphamide doses proved to be protective factors in overall mortality figures (RR <1)., Conclusions: The main risk factors of death in SLE were heart involvement, hyperlipidemia and renal damage. Treatment with steroids, antimalarial agents and cyclophosphamide improved survival. High-dose corticosteroids and cyclophosphamide were associated with sepsis as a cause of death.

Extensive cutaneous necrosis (ECN) associated with antiphospholipid antibodies is a rare presentation. We describe 2 patients with ECN and high titers of anticardiolipin antibodies. The mechanism by which these antibodies act has not been established and there is still controversy regarding treatment of these patients without established guidelines. In the few documented cases the use of pulse steroid therapy, anticoagulants, fibrinolytic agents, plasmapheresis, or a combination of them has shown some benefit. Early recognition and treatment of the antiphospholipid syndrome may limit the extent of thrombotic complications that can result in tissue necrosis.

The main objective was to determine the bacteriological quality of a shallow lake in the lower Salado River Basin (Bedetti, 31 degrees 40' S and 60 degrees 45' W). Seventy samples were tested by the most probable number (MPN) method, throughout three years. The number of thermotolerant coliforms was very variable: from 20 MPN/100 ml to 130,000 MPN/100 ml. These variations were mainly associated to the local rains (rs = 0.4853, p = 0.0001) and to the hydrometric level-h-(rs = 0.3835, p = 0.008). Statistically significant correlations between coliform bacteria and other variables (temperature, oxygen, pH, conductivity and transparency) were not found. The increase of coliforms associated to the increase of the hydrometric level indicates the presence of diffuse contamination sources. It was found that the rains affected the bacteriological quality, specially during the low water periods (h < 3.60). During the high water periods (h > 4.70) one of the main coliform contributor was represented by the incoming floating islans and aquatic macrophyte, from allochthonous fluvial systems. The coliform concentrations between the Bedetti lake and the Salado river were compared. The results show a better bacteriological quality of the lake (geometric average = 1,990/100 ml vs. 420/100 ml, n = 56) so that, connecting them by the construction of an artificial channel is not advisable.

In the lower Salado River Basin 85 samples of water and 40 of plankton were collected from January 1993 to December 1996. In the 69.4% of the water samples and in the 75% of the plankton samples Vibrio cholerae was detected. None of the isolate strains belonged to O1 and O139 serogroups. The seasonality in the frequency of isolation of V. cholerae tested by multiple proportions comparison test was not confirmed (p > 0.05). There were significant differences (p < 0.05) between the isolation frequencies found in the Salado River (85 samples, 69.4%) and those found in the Paraná River environments (16 samples, 25%) and in municipal waste effluents (18 samples, 33.3%).

We present the case of a 71-year-old patient with rugger-jersey vertebrae who was referred to us with a tentative diagnosis of Paget's disease. After considering other conditions causing similar bone sclerosis, such as metastases, lymphoma, renal osteodystrophy, myelofibrosis, thalassemia, and Gaucher's disease, we agreed on a diagnosis of osteopetrosis. This is a rare entity of genetic origin, manifest by variable generalized symmetric skeletal sclerosis caused by defective bone resorption.

We describe four patients who presented with seronegative inflammatory peripheral polyarthritis with pitting edema. All of these patients had spontaneous resolution of their disease over 9-18 months. None of them developed erosions or relapse after prolonged follow-up. Recognition of the features described may allow for conservative therapy with less toxic drugs.

Thirty-eight out of 212 patients (18%) with fibromyalgia met the criteria for the definition of female urethral syndrome (FUS). None of the patients from the control group met these criteria. The treatment for FUS was the same as that for fibromyalgia: cyclobenzaprine or diazepam and nonsteroidal anti-inflammatory drugs with a partial response in both pathologies. We should consider FUS in the evaluation of every patient with fibromyalgia.

Kawasaki syndrome is an idiopathic, febrile, exanthematous illness that primarily affects infants and children. We describe a 22-year-old white woman who fulfilled the clinical criteria for the diagnosis of Kawasaki syndrome.

The occurrence of lymphadenopathies was investigated in 23 patients with diverse rheumatic conditions who had silastic prosthesis in joints of the hands, to determine whether these adenopathies were due to the presence of silicone particles. Five cases had clinically detectable lymph node enlargement and tissue samples were studied by light and scanning electron microscopy (SEM) and energy dispersive X-ray analysis (EDXA). In 3 out of the 5 cases foreign body granulomas were observed by light microscopy, SEM showing a highly irregular distribution of foreign body material with a peak for silicone by EDXA. Foreign body particle distribution closely correlated with silicone concentration. No granulomas were found in the two remaining patients with adenopathies who presented a non-specific reactive lymphadenitis. Our findings show that silicone lymphadenopathy is a more frequent complication (13%) of silastic arthroplasty than is usually recognized and therefore should be considered in the differential diagnosis of patients with lymph node enlargement who have previously received a silicone arthroplasty.