El polimorfismo genético del factor de necrosis tumoral alfa como factor de riesgo en patología / Tumor necrosis factor alpha genetic polymorphism as a risk factor in disease

Cytokine unbalance is responsible for the pathogenesis of diverse inflammatory, autoimmune and infectious diseases, and Tumor Necrosis Factor Alpha (TNFa), among other cytokines, plays a central role. TNFa production can be regulated at the transcriptional, post-transcriptional, and translational levels. Variability in the promoter and coding regions of the TNFa gene may modulate the magnitude of its secretory response. Up to date, several single nucleotide polymorphisms (SNPs) have been identified in the human TNFa gene promoter. One of these, is a guanine to adenine transition at position -308, that generates the TNF1 and TNF2 alleles, respectively. The TNF2 allele is associated to a high in vitro TNF expression, and it has also been linked to an increased susceptibility and severity, for a variety of illnesses, such as rheumatoid arthritis, systemic lupus erythematosus, inflammatory bowel disease, Alzheimer disease and cerebral malaria among others. It is also associated with a higher septic shock susceptibility and mortality. The investigation of polymorphisms within the TNFa cluster will be important in understanding the role of TNFa regulation in specific diseases

Características clínicas y respuestas al tratamiento sistémico de la epiescleritis y escleritis primarias y secundarias, refractarias al tratamiento local / Clinical feactures and response to systemic treatment in episcleritis and scleritis resistent to local treatment

Background: Scleritis and episcleritis may extend to adjacent ocular tissues with blinding consequences and may be associated with potentially lethal systemic disorders. Aim: To evaluate the ocular complications and systemic disease associations of the different types of scleritis and episcleritis. Patients and methods: Forty six patients with refractory scleritis and episcleritis were studied and treated during the period 1991 to 1998. Results: Necrotizing type was the most common and severe category in the scleritis group of patients. A decrease in vision occurred in 58.3 percent of patients with scleritis v/s a 23.5 percent of patients with epiescleritis (p<0,05). Uveitis was present in 35.4 percent of patients with scleritis and scleromalacia was present in 33.3 percent (p<0,05). A specific disease association was uncovered in 51 percent of scleritis and in 38 percent of episcleritis patients. Rheumatoid arthritis, primary systemic vasculitic disease and Sjsgren syndrome with vasculitis were the most common associated systemic diseases. Three patients with scleritis had tuberculosis. Conclusions: Scleritis is more severe than episcleritis, and necrotizing scleritis is the most severe type of scleritis. Classification of scleritis and episcleritis provides valuable prognostic information. A meticulous approach for the detection of a specific associated disease must be undertaken. Scleritis associated with vasculitis has a worse ocular prognosis than other non infectious diseases. Cyclophosphamide is the most effective inmunosuppresive treatment to control severe ocular involvement

Valor pronóstico del índice de Sharp en la respuesta clínica y de laboratorio a un pulso intravenoso de metilprednisolona en pacientes con artritis reumatoídea / Prognostic value of Sharp index in the clinical and laboratory response to an iv methylprednisolone pulse in patients with rheumatoid arthritis

Background: No reliable variables to predict clinical or laboratory response to treatment in patients with rheumatoid arthritis were available until recently. Aim: To asses the potential predictive value of the Sharp's modified radiographic joint damage index for the assessment of clinical and laboratory response to a methylprednisolone i.v. pulse. Patients and Methods: Twenty-two patients suffering from rheumatoid arthritis received a single i.v. pulse of 1 g of methylprednisolone. Hand X-rays were taken at baseline and blindly scored by two trained radiologists. Clinical and laboratory variables were assessed at baseline and at weekly intervals up to 30 days plus a 60 days final evaluation. Improvement was defined as a 50 percent amelioration in 4 variables. Results: Assessment of radiographic scores had a high correlation between and within observers (intraclass correlation= 0.998). Sharp score did not reach statistical significance as global predictor for the inflammatory variable response to methylprednisolone. However, when the number of swollen joints was taken into account, patients with a low erosive score (Sharp ² 50) had a more prolonged clinical response, than patients with higher erosive score (Sharp >50) (Fisher test p= 0.023). It is of clinical importance to point out that among patients with high Sharp score there were also responders who reached a high level of improvement. A statistically significant correlation between the basal PCR serum titers and the radiographic score (p< 0.02) was observed. Conclusions: The number of swollen joints and other variables that consider joint structural changes should be considered for the assessment of rheumatoid arthritis patients

Crisis de esclerodermia renal: rol de la vasculopatía esclerodérmica en la inducción de fibrosis cutáneo-visceral en dos casos / Renal scleroderma crisis: role of sclerodermic vasculopathy in the induction of cutaneous and visceral fibrosis: report of 2 cases

Although fibrosis and vasculopathy coexist in most patients with progressive systemic sclerosis, it is not clear if these events are the result of an unique etiologic factor or if one is consequence of the other. We report two cases of progressive systemic sclerosis that evolved to a renal scleroderma crisis. A 36 years old female presented with a Sjögren syndrome and painful subcutaneous nodules whose biopsy showed perivascular lymphocytic infiltration, perivascular thickening and normal skin. The ESR was 100 mm/h. She developed an hypertensive crisis and progressive renal failure, followed by a rapidly evolving progressive systemic sclerosis. The patient died in the course of this crisis. A 32 years old female with a progressive systemic sclerosis refractory to D-penicillamine treatment, receiving cyclosporin, presented a renal scleroderma crisis, that was successfully treated, with complete recovery of renal function. We highlight the different evolution of these cases, probably due to an early diagnosis and a better experience in the management of this condition

Tratamiento con dosis bajas de ciclosporina A en pacientes con enfermedad ocular inflamatoria de etiología no infecciosa / Treatment of non infectious ocular inflammatory disease with low doses of cyclosporin A

Background: Cyclosporin A has an adequate immunosuppressive capacity and can be useful in the treatment of non infectious ocular inflammatory diseases. Aim: To describe the clinical effect of cyclosporin A treatment in low doses, along with corticosteroids, in the treatment of refractory ocular inflammatory diseases. Patients and methods: Twenty patients (13 female), aged 17 to 74 years old with severe and refractory ocular inflammatory diseases were studied. All except one, received variable doses of prednisone (10 to 60 mg/kg/day) and all received cyclosporin in doses that started in 2.5 mg/day and were increased to 5 mg/kg/day, according to clinical response. Patients were followed from 8 to 24 months, with monthly assessments of ocular inflammation (using a four point score), visual acuity and adverse effects of treatment. Results: A two points or more reduction in the ocular inflammation score was observed in 52 percent of patients. Visual acuity improved in 10 subjects, stabilized in 8 and worsened in 2. Prednisone doses were reduced in most patients. Observed adverse effects were hypertension in 2 patients, creatinine elevation in 2, gastrointestinal disturbances in 3 and hypertrichosis in 12. A reduction of cyclosporin dose was required in these cases, but it was discontinued only in one patient with a vascular purpura. Conclusions: Low cyclosporin doses, associated to prednisone, are useful to reduce inflammation and improve visual acuity in patients with non infectious ocular inflammatory diseases, refractory to other treatment methods

Sarcoidosis laríngea: caso clínico / Laryngeal sarcoidosis: clinical case

Se presenta un caso de paciente se sexo masculino de 17 años, portador de Sarcoidosis localizada en laringe (supraglotis), con la metodología de estudio, diagnóstico y tratamiento empleado, mostrando una remisión lenta, pero estable. Además se hace una revisión de dicha patología en cuanto a sus características generales, diagnóstico, histopatología y alternativas terapéuticas

Comparación de la eficacia clínica de una inyección intraarticular o intralesional de dos preparados de betametasona en pacientes con artrosis o epicondilitis / Comparative effects of intra articular injections of two betametasone preparations in patients with osteoarthritis or epicondilytis

Background: Local infiltration with corticoids is a simple therapy for rheumatic disorders devoid of systemic adverse reactions. Aim: To compare the efficacy of two betametasone preparations from two different pharmaceutical laboratories in the treatment of patients with osteoarthritis or epicondilytis. Patients and methods: Fourty patients with knee osteoarthritis and 12 patients with epicondilytis were studied. Using a double blind protocol, one of the two betametasone preparations was used for local infiltration of the lesions. The change in a global score of clinical variables including pain and disability was assessed after 30 days of the infiltration. Results: In patients with osteoarthritis, the global score decreased significantly with both preparations, but no differences were observed between preparations (7.3ñ1.8 to 3.9ñ2.3 with preparation A and 7.8ñ1.9 to 3.6ñ2.3 with preparation B). In patients with epicondilytis, pain was also significantly reduced but no differences between preparations was observed (7ñ2.1 to 1.4ñ2.5 for preparation A and 4.6ñ2.8 to 1.2ñ1.6 for preparation B). Conclusions: Local infiltration with both betametasone preparations was equally effective in the treatment of patients with knee osteoarthritis or epicondilytis