Celiac Patient With New Episodes of Diarrhea: A Case Report.

Celiac disease is a relatively common autoimmune disease that affects the gut's ability to process gluten. It is frequently associated with other autoimmune diseases. In this article, the authors present a clinical case of a 65-year-old female patient with a history of celiac disease and autoimmune hypothyroidism. This patient was admitted to the emergency room with generalized edema and chronic diarrhea with mucus as well as reports of unusual weight loss. A requested fecal analysis tested positive for fecal calprotectin. An endoscopic study further displayed flattening of the intestinal villi. A subsequent biopsy expressed overlapping evidence for both celiac disease and lymphocytic colitis. This case illustrates how a diagnosis of microscopic colitis should be explored when celiac patients with a history of a stable gluten-free diet display a sudden onset of chronic diarrhea. As the symptoms associated with this disease can often become debilitating, an early diagnosis and treatment are crucial.

Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis.

Myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) share common features: elevated oxidative stress, DNA repair deficiency, and aberrant DNA methylation. We performed a hospital-based case-control study to evaluate the association in variants of genes involved in oxidative stress, folate metabolism, DNA repair, and DNA methylation with susceptibility and prognosis of these malignancies. To that end, 16 SNPs (one per gene: CAT, CYBA, DNMT1, DNMT3A, DNMT3B, GPX1, KEAP1, MPO, MTRR, NEIL1, NFE2F2, OGG1, SLC19A1, SOD1, SOD2, and XRCC1) were genotyped in 191 patients (101 MDS and 90 AML) and 261 controls. We also measured oxidative stress (reactive oxygen species/total antioxidant status ratio), DNA damage (8-hydroxy-2'-deoxyguanosine), and DNA methylation (5-methylcytosine) in 50 subjects (40 MDS and 10 controls). Results showed that five genes (GPX1, NEIL1, NFE2L2, OGG1, and SOD2) were associated with MDS, two (DNMT3B and SLC19A1) with AML, and two (CYBA and DNMT1) with both diseases. We observed a correlation of CYBA TT, GPX1 TT, and SOD2 CC genotypes with increased oxidative stress levels, as well as NEIL1 TT and OGG1 GG genotypes with higher DNA damage. The 5-methylcytosine levels were negatively associated with DNMT1 CC, DNMT3A CC, and MTRR AA genotypes, and positively with DNMT3B CC genotype. Furthermore, DNMT3A, MTRR, NEIL1, and OGG1 variants modulated AML transformation in MDS patients. Additionally, DNMT3A, OGG1, GPX1, and KEAP1 variants influenced survival of MDS and AML patients. Altogether, data suggest that genetic variability influence predisposition and prognosis of MDS and AML patients, as well AML transformation rate in MDS patients. © 2016 Wiley Periodicals, Inc.

Virtual network: to analyze the knowledge about leprosy of MORHAN volunteers

O objetivo do estudo foi revelar o conhecimento sobre hanseníase dos voluntários participantes da Rede virtual de Mobilização (REMOB) do Movimento de Reintegração das pessoas Atingidas pela Hanseníase (MORHAN) em relação a aspectos gerais, diagnóstico, transmissão e tratamento. Os voluntários da REMOB foram convidados a responder um formulário on line contendo 35 afirmativas sobre hanseníase e perguntas específicas sobre o voluntariado. Participaram do estudo 105 voluntários, representando 20 estados brasileiros, a média de idade foi de 38,9 (dp14,14), 72,4% eram atuantes na área da saúde, 73,3% tinham nível superior e/ou pós-graduação, para 63,8% as atividades voluntárias não iniciaram por conhecer alguém com a doença. O percentual médio de acertos sobre diagnóstico foi de 84,2%, aspectos gerais 83,2%, transmissão 71,6% e tratamento 61,9%. O conhecimento sobre hanseníase foi maior nas questões referentes ao diagnóstico e menor sobre tratamento que embora sejam bastante específicas, devem ser alvo de investimento para capacitação permanente.

The objective of this study was to investigate knowledge about leprosy of volunteers participating in the Virtual Mobilization Network (REMOB) for the Reintegration Movement of People Affected by Leprosy (MORHAN) in relation to general aspects, diagnosis, transmission and treatment of the disease. REMOB volunteers were asked to answer an online questionnaire containing 35 questions about leprosy and specific questions about volunteering. The study included 105 volunteers in 20 Brazilian states with a mean age of 38.9 (sd=14.14) years. A total of 72.4% were healthcare professionals, 73.3% had college diplomas or were postgraduates, and for 63.8% volunteering did not begin because they knew someone with the disease. Respondents correctly answered, on average, 84.2% of the questions about diagnosis, 83.2% about general aspects, 71.6% about transmission and 61.9% on treatment. The knowledge of leprosy was better in respect to the diagnosis and worse in relation to treatment and should be the target for investment in ongoing training.

Variabilidad genética del virus de la hepatitis B y sus implicaciones / Genetic variability of the hepatitis b virus and implications

El virus de la hepatitis B (VHB) presenta características únicas dentro del grupo de virus que poseen un genoma tipo ADN, entre ellas encontramos la de presentar un cierto grado de variabilidad genética atípica en este tipo de virus. Esta peliculiaridad, se ha manifestado en la existencia de 7 genotipos (A-G) circulando a nivel mundial, los cuales son consecuencia de las mutaciones acumuladas a lo largo de la historia del VHB y cuyo estudio ha permitido el mejor entendimiento de la evolución y biología de este virus. Por otra parte un evento frecuente durante la infección natural por VHB es la generación y selección de mutantes del virus, principalmente como resultado de la presión ejercida por la respuesta inmunitaria del hospedero, así como la debida a la intervención de la vacunación y más recientemente de la terapia anti-viral. Hasta la fecha se han identificado mutaciones naturales en todos los genes virales y elementos regulatorios del VHB mediante técnicas moleculares. sin embargo, la carencia de sistemas apropiados que permitan estudiar la influencia de estas mutantes sobre el ciclo de replicación del virus, la patogénesis de la enfermedad y su interacción con el sistema inmunitario del hospedero, impide un análisis funcional apropiado de estas mutantes. Por tal razón es poco lo que se sabe posibles implicaciones de la variabilidad genética del VHB. A pesar de ello y después de haber sido consideradas como mera curiosidad, estudios sobre la han permitido establecer las posibles consecuencias sobre el curso de la infección (mutaciones en el gen pre-cápside y en el gen cáspite), sobre la eficacia de la vacuna actual (mutaciones en el gen S: mutantes de escape), los sitemas de diagnóstico (mutaciones del gen S) y la terapia anti-viral (mutaciones en el gen P). En el presente artículo haremos una revisión acerca de como ocurren y cuales son las mutantes más frecuentes que se generan a lo largo del genoma del VHB. Así mismo, discutimos sus posibles implica...