Trombofilia hereditary is a tendency genetically determined to develop trombosis. Between the most common causes can be mentioned, protein deficiencies certain of the coagulation, like Antitrombina, protein C, protein S, and also, certain mutations in the factors of the coagulation: Factor V Leiden, Protrombina G20210A, and mutations in the Metiltetrahidrofolatoreductasa enzyme (MTHFR), among others. OBJETIVES. To identify one of the most frequent mutations and its prevalence, in the gene of Factor V, Protrombina, the MTHFR, in a population of donors of blood of Paraguay. MATERIAL AND METHODS. Prospective observational study. For this work, blood samples of 200 donors of the Blood donation point have been taken from the Hospital of Clinics, that reunited the criteria from inclusion to the study. All sequentially went in November and December of year 2001. It was purified and the DNA of each sample was extracted using the Wizard system of Promega. The amplification by chain reaction was made of the polymerase (PCR). In factor V the A506 mutation has been identified (FV Leiden). In factor II mutation G20210A, and in the MTHFR mutation C677T. In the study of factor II, were 5 individuals (Aa), with mutation G20210A, a prevalence of 2.5 %. Factor V Leiden was observed in 4 heterocigotos individuals (Aa), prevalence of 2 %. Mutation C677T of the MTHFR was in 85 heterocigotos individuals (Aa), and 27 homocigotos individuals (aa), with a prevalence of 56 %. CONCLUSIONS. The mutations have been identified more frequently you decipher in the studied factors. The prevalence of genotype FII G20210A, FV Leiden and the codificante gene for MTHFR, C677T, found in the studied healthy individuals, is similar to the found one in most of the Latin countries.

La trombofilia hereditaria es una tendencia genéticamente determinada a desarrollar trombosis. Entre las causas más comunes pueden citarse deficiencias de ciertas proteínas de la coagulación como la Antitrombina, la proteína C, la proteína S. Y también ciertas mutaciones en los factores de la coagulación: Factor V Leiden, Protrombina G20210A, y mutaciones en la enzima Metiltetrahidrofolatoreductasa (MTHFR), entre otras. Los objetivos han sido: Identificar una de las mutaciones más frecuentes y su prevalencia, en el gen del Factor V, de la Protrombina, de la MTHFR, en una población de donantes de sangre del Paraguay. Para este trabajo de investigación prospectivo y de corte transverso, se han tomado muestras de sangre de 200 donantes del Banco de Sangre del Hospital de Clínicas, que reunieron los criterios de inclusión al estudio. Todos acudieron secuencialmente en noviembre y diciembre del año 2001. Se purificó y se extrajo el ADN de cada muestra utilizando el sistema Wizard de Promega. Se realizó la amplificación por reacción en cadena de la polimerasa (PCR). En el factor V se ha identificado la mutación A506 (FV Leiden). En el factor II la mutación G20210A, y en la MTHFR la mutación C677T. En el estudio del factor II se encontraron 5 individuos (Aa), con la mutación G20210A, con una prevalencia de 2,5 %. El Factor V Leiden se observó en 4 individuos heterocigotos (Aa), prevalencia de 2 %. La mutación C677T de la MTHFR se encontró en 85 individuos heterocigotos (Aa), y 27 individuos homocigotos (aa), con una prevalencia de 56 %. Conclusiones: se han identificado las mutaciones más frecuentemente descriptas en los factores estudiados. La prevalencia del genotipo FII G20210A, FV Leiden y el gen codificante para la MTHFR, C677T, hallados en los individuos sanos estudiados, es similar a la hallada en la mayoría de los países latinos.

RACIONAL: As doenças difusas do tecido conjuntivo afetam vários sistemas orgânicos, inclusive o digestório. Neste, as lesões variam em intensidade e freqüência na dependência da doença envolvida. A descrição das diferentes manifestações digestivas tem sido pouco freqüente, pouco detalhada e, não raro, baseada em experiências individuais e levantamentos retrospectivos. Tais formas de registro de dados produzem resultados muitas vezes conflitantes entre as diferentes casuísticas. OBJETIVO: Estabelecer de forma mais consistente, por intermédio de entrevista e questionário predefinido de sintomas, o conjunto e freqüência dos sintomas digestivos observados na esclerose sistêmica progressiva, artrite reumatóide, polimiosite/dermatomiosite, doença mista do tecido conjuntivo e lúpus eritematoso sistêmico. PACIENTES E MÉTODO: Estudaram-se 99 pacientes, 90% mulheres, com idade média de 45 anos. Do total, 35 tinham artrite reumatóide, 26 esclerose sistêmica progressiva, 21 lúpus eritematoso sistêmico, 12 dermatomiosite/polimiosite e 5 doença mista do tecido conjuntivo. Todos foram submetidos, por investigador treinado, a entrevista e preenchimento de um questionário de sintomas digestivos, composto de 17 itens, previamente definidos. RESULTADOS: O estudo revelou elevada prevalência de sintomas gastrointestinais nas cinco doenças investigadas, muitas vezes afetando mais de 50% dos casos. Chamou a atenção a presença significativa de sintomas negligenciados pela literatura como a incontinência fecal. Discordante de trabalhos anteriores, os pacientes desta série com artrite reumatóide apresentaram variadas queixas digestivas, surpreendendo o achado de disfagia em 1/3 deles. CONCLUSÕES: As doenças difusas do tecido conjuntivo são causas de freqüentes e numerosos sintomas digestivos. O uso de questionários predefinidos mostrou-se instrumento válido na identificação de substancial número de sintomas, alguns deles ainda não referidos pela literatura. Por fim, foi constatada escassez de trabalhos passados e atuais relativos às manifestações gastrointestinais das doenças difusas do tecido conjuntivo, o que prejudicou análises comparativas mais amplas.

BACKGROUND: Connective tissue diseases may damage multiple organic systems, including digestive system. In this one, the degree of injury vary according to the associated disease. Despite the significant frequency of gastrointestinal involvement, there are few studies characterizing the prevalence of digestive symptoms in connective tissue diseases. Furthermore, most of the studies available are less detailed and based in personal experiences or reviews of records. AIM: To establish a reliable list of gastrointestinal symptoms found in the progressive systemic sclerosis, rheumatoid arthritis, polymyositis/dermatomyositis, mixed connective tissue disease and systemic lupus erythematosus, through a medical interview and a predefined questionnaire of symptoms. PATIENTS AND METHODS: There were studied 99 patients, 90% females, mean age 45 years. The whole group were composed of 35 rheumatoid arthritis, 26 progressive systemic sclerosis, 21 systemic lupus erythematosus, 12 polymyositis/dermatomyositis and 5 mixed connective tissue disease. Each patient was submitted to an interview with a well trainned doctor and answered a structured questionnaire, containing 17 questions. RESULTS: It was found a high prevalence of digestive symptoms in all five connective tissue diseases searched. Many of them were present in more than 50% of the patients. Called special attention the detection of some manifestations neglected by the literature like, for example, fecal incontinence. Also, disagreeing with other authors, was the finding of multiple gastrointestinal manifestations associated with rheumatoid arthritis. It was particularly surprising the occurrence of dysphagia in one third of the rheumatoid arthritis group. CONCLUSIONS: The connective tissue diseases are usual causes of many gastrointestinal complaints. The use of an interview plus predefined questionnaire seems a very effective way to identify and characterize symptoms and is even sometimes able to uncover features unknown before. Finally, the lack of studies, specially updated studies, did not allow more comprehensive comparisons.

Cytomegalovirus encephalitis is rarely diagnosed in immunocompetent patients. It is more frequent among immunocompromised hosts. We present a case of a young male patient without evidence of immunosupression who had a cytomegalovirus encephalitis. The diagnosis was made by detection of viral DNA in cerebral tissue obtained by biopsy. Neuropathologic and ultrastructural changes are described and compared with the descriptions in immunocompromised patients.

Las encefalitis por citomegalovirus en pacientes inmunocompetentes son excepcionales, siendo un patógeno reconocido en pacientes inmunodeprimidos (SIDA, transplantados). Se reporta el caso clínico de una encefalitis por Citomegalovirus en un adulto joven, sin evidencia de enfermedad inmunosupresora, cuyo diagnóstico fue posible mediante la detección de ADN viral en la biopsia cerebral. Se describen además las singularidades clínicas de este caso y los hallazgos de la anatomía patológica y de la microscopía electrónica comparándolos con los reportados en pacientes inmunodeprimidos.