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Ítem Hyperferritinemic syndrome: Still’s disease and catastrophic antiphospholipid syndrome triggered by fulminant Chikungunya infection: a case report of two patients(Springer-Verlag London Ltd, 2015-08-02) Echeverry, Alex A.There are four medical conditions characterized by high levels of ferritin, the macrophage activation syndrome (MAS), adult onset Still’ s disease (AOSD), catastrophic antiphospholipid syndrome (CAPS), and septic shock, that share similar clinical and laboratory features, suggesting a common pathogenic mechanism. This common syndrome entity is termed “the hyperferritinemic syndrome.” Here, we describe two different cases of hyperferritinemic syndrome triggered by Chikungunya fever virus infection: a 21-year-old female with SLE and a 32-year-old male patient who developed AOSD after the coinfection of dengue and Chikungunya viruses.Ítem Calcium, channels, intracellular signaling and autoimmunity(2014-01-01) Cañas Dávila, Carlos AlbertoCalcium (Ca2+) is an important cation able to function as a second messenger in different cells of the immune system, particularly in B and T lymphocytes, macrophages, and mastocytes, among others. Recent discoveries related to the entry of Ca2+ through the store-operated calcium entry (SOCE) have opened a new investigation area about the cell destiny regulated by Ca2+ especially in B and T lymphocytes. SOCE acts through calcium-release-activated calcium (CRAC) channels. The function of CRAC depends upon two recently discovered regulators: the Ca2+ sensor in the endoplasmic reticulum or stromal interaction molecule (STIM-1) and one subunit of CRAC channels called Orai1. This review focuses on the role of Ca2+ signals in B and T lymphocytes functions, the signaling pathways leading to Ca2+ influx, and the relationship between Ca2+ signals and autoimmune diseases.Ítem Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases.(Elsevier, 2012-02-12) Prahalad, SampathMany autoimmune diseases (ADs) share similar underlying pathology and have a tendency to cluster within families, supporting the involvement of shared susceptibility genes. To date, most of the genetic variants associated with systemic lupus erythematosus (SLE) susceptibility also show association with others ADs. ITGAM and its associated 'predisposing' variant (rs1143679, Arg77His), predicted to alter the tertiary structures of the ligand-binding domain of ITGAM, may play a key role for SLE pathogenesis. The aim of this study is to examine whether the ITGAM variant is also associated with other ADs. We evaluated case-control association between rs1143679 and ADs (N=18,457) including primary Sjögren's syndrome, systemic sclerosis, multiple sclerosis, rheumatoid arthritis, juvenile idiopathic arthritis, celiac disease, and type-1 diabetes. We also performed meta-analyses using our data in addition to available published data. Although the risk allele 'A' is relatively more frequent among cases for each disease, it was not significantly associated with any other ADs tested in this study. However, the meta-analysis for systemic sclerosis was associated with rs1143679 (p(meta)=0.008). In summary, this study explored the role of ITGAM in general autoimmunity in seven non-lupus ADs, and only found association for systemic sclerosis when our results were combined with published results. Thus ITGAM may not be a general autoimmunity gene but this variant may be specifically associated with SLE and systemic sclerosis.Ítem The biological significance of evolution in autoimmune phenomena.(2012-01-01) Cañas Dávila, Carlos AlbertoIt is an inherent part of living to be in constant modification, which are due to answers resulting from environmental changes. The different systems make adaptations based on natural selection. With respect to the immune system of mammals, these changes have a lot to do with the interactions that occur continuously with other living species, especially microorganisms. The immune system is primarily designed to defend from germs and this response triggers inflammatory reactions which must be regulated in order not to generate damage to healthy tissue. The regulatory processes were added over time to prevent such damage. Through evolution the species have stored "an immunological experience," which provides information that is important for developing effective responses in the future. The human species, which is at a high level of evolutionary immunological accumulation, have multiple immune defense strategies which, in turn, are highly regulated. Imbalances in these can result in autoimmunity."There is nothing permanent except change."(Heraclitus).Ítem Diabetic muscle infarction: two cases: one with recurrent and bilateral lesions and one with usual unilateral involvement.(Lippincott, Williams & Wilkins, 2013-04-01) Cadavid Aljure, DahyanaDiabetic muscle infarction is a rare complication of diabetes. We describe 2 cases of diabetic muscle infarction, each one of them with a particular form of clinical presentation: recurrence, bilateral engagement, and unilateral compromise. Both cases had history of poorly controlled diabetes mellitus and diabetic nephropathy. The diagnosis was based on clinical, imaging, and anatomopathological features. The treatment was with a close control of diabetes mellitus, analgesics, short-term immobilization, and physical therapy.Ítem Historia del lupus y embarazo(Ediciones Universidad Tecnologica de Boliva, 2011-01-01) Toro, CarlosRealizar análisis periódicos de la información contenida en el registro. Determinar la frecuencia de las diferentes enfermedades autoinmunes diagnosticadas, manejadas y seguidas en la FVLÍtem The importance of evolution in the development and course of rheumatoid arthritis(Elsevier, 2014-06-01) Cañas Dávila, Carlos AlbertoRheumatoid arthritis (RA) is a complex autoimmune disease of recent evolutionary origin. Genetic drift determines diverse polymorphisms implicated in the susceptibility to RA including the major histocompatibility complex (MHC) class II genes in the so-called shared epitope. These genes originated after the divergence between Homo and Pan from their common ancestry Ardipithecus ramidus about 5 million years ago. Natural selection determined the particular changes in the legs (bipedal position), hands, neck, brain and eusociality in humans which influence the clinical presentation of RA. In this article, we hypothesized that the origin and course of RA may be explainable in the light of evolution.Ítem Recovery of severe muscular and fascial calcinosis after treatment with bisphosphonates in a child with juvenile dermatomyositis(Lippincott Williams and Wilkins, 2015-08-01) Bonilla Abadía, FabioAbstract: Juvenile dermatomyositis (JDM) is a serious systemic autoimmune condition primarily affecting proximal muscles and skin, which is frequently associated with calcinosis. We report a case of a 10-year-old boy with JDM and severe calcification deposits along fasciae and muscle planes. He complained of symptoms associated to JDM with pulmonary involvement since 1 year before receiving medical attention. Three months before consultation, he experienced bilateral leg pain accompanied by progressive hardening of muscles and the presence of small nodules around the elbows and submandibular region. Computed tomography images revealed a severe “eggshell” calcification pattern of the lower-limb muscular fasciae. Significant clinical and radiological improvement was achieved after 30 months of alendronate therapyÍtem Brainstem ischemic stroke after to Bothrops atrox snakebite(Elsevier, 2016-09-15) Cañas Dávila, Carlos AlbertoWe report case of a 48 years old woman bitten on her right foot by a Bothrops atrox viper. As a result, she developed a severe coagulopathy which improved with application of polyvalent antivenom. Four days after bite she suffered a devastating brainstem ischemic stroke. Possible pathogenetic mechanisms are discussed.Ítem Severe deformans tophaceous gouty arthritis(Elsevier, 2017-03-01) Zuñiga Velásquez, AliciaA 61-year-old man with a 20-year history of gout with severe functional disability was evaluated in our service. He received alopurinol and colchicine without response. Physical examination revealed bilateral great deformity, multiple tophi and edema of hands (Fig. 1), feet and knees. Serum uric acid was elevated: 11.2 mg/dL (reference value: 3.4–7.0 mg/dL). Hands X-ray AP view demonstrated, in both hands (Fig. 2A [left] and B [right]), conserved bone mineralization with severe soft-tissue swelling, extensive erosions with sclerotic borders (white arrows), precipitation of calcium with urate crystals giving density to the tophi (head arrows), bone spiculations (black arrows) and osteolytic expansive lesions in multiple heads of metacarpophalangic joint (double-head arrows).