Common NOD2/CARD15 and TLR4 Polymorphisms Are Associated with Crohn's Disease Phenotypes in Southeastern Brazilians.

AIM: To investigate whether variants in NOD2/CARD15 and TLR4 are associated with CD and ulcerative colitis (UC) in a genetically admixed population of Rio de Janeiro, where IBD has continued to rise. METHODS: We recruited 67 consecutive patients with CD, 61 patients with UC, and 86 healthy and ethnically matched individuals as controls. DNA was extracted from buccal brush samples and genotyped by PCR with restriction enzymes for G908R and L1007finsC NOD2/CARD15 single-nucleotide polymorphisms (SNPs) and for T399I and D299G TLR4 SNPs. Clinical data were registered for subsequent analysis with multivariate models. RESULTS: NOD2/CARD15 G908R and L1007finsC SNPs were found in one and three patients, respectively, with CD. NOD2/CARD15 G908R and L1007finsC SNPs were not found in any patients with UC, but were found in three and three controls, respectively. With regard to the TLR4 gene, no significant difference was detected among the groups. Overall, none of the SNPs investigated determined a differential risk for a specific diagnosis. Genotype-phenotype associations were found in only CD, where L1007finsC was associated with colonic localization; however, TLR4 T399I SNP was associated with male gender, and D299G SNP was associated with colonic involvement, chronic corticosteroid use, and the need for anti-TNF-alpha therapy. CONCLUSION: Variants of NOD2/CARD15 and TLR4 do not confer susceptibility to IBD, but appear to determine CD phenotypes in this southeastern Brazilian population.

The role of innate immunity receptors in the pathogenesis of inflammatory bowel disease.

Innate immunity constitutes the first line of defense, fundamental for the recognition and the initiation of an inflammatory response against microorganisms. The innate immune response relies on the sensing of microbial-associated molecular patterns through specialized structures such as toll-like receptors (TLRs) and the nucleotide oligomerization domain- (NOD-) like receptors (NLRs). In the gut, these tasks are performed by the epithelial barrier and the presence of adaptive and innate immune mechanisms. TLRs and NLRs are distributed throughout the gastrointestinal mucosa, being more expressed in the epithelium, and in lamina propria immune and nonimmune cells. These innate immunity receptors exhibit complementary biological functions, with evidence for pathways overlapping. However, as tolerance is the predominant physiological response in the gastrointestinal mucosa, it appears that the TLRs are relatively downregulated, while NLRs play a critical role in mucosal defense in the gut. Over the past two decades, genetic polymorphisms have been associated with several diseases including inflammatory bowel disease. Special emphasis has been given to the susceptibility to Crohn's disease, in association with abnormalities in the NOD2 and in the NLRP3/inflammasome. Nevertheless, the mechanisms underlying innate immune receptors dysfunction that result in the persistent inflammation in inflammatory bowel disease remain to be clarified.

[Descriptive analysis of the social, clinical, laboratorial and anthropometric profiles of inflammatory bowel disease inwards patients from the "Clementino Fraga Filho" University Hospital, Rio de Janeiro, RJ, Brazil]. / Análise descritiva dos perfis social, clínico, laboratorial e antropométrico de pacientes com doenças inflamatórias intestinais, internados no Hospital Universitário Clementino Fraga Filho, Rio de Janeiro.

BACKGROUND: The epidemiologic survey in Brazil is limited probably due to a diagnosis deficiency and a small number of population-based studies performed. The majority of the prevalence studies available have evaluated inflammatory bowel diseases outpatients, but the knowledge of the profile of inflammatory bowel diseases inpatients is important in order to detect predictive markers of disease severity that will allow earlier medical intervention decreasing the rate of hospitalization and reducing the Health System costs. AIM: To determine social, clinical, laboratorial and anthropometric profiles of hospitalized adults inflammatory bowel diseases patients of a tertiary university hospital. METHODS: Prospective study was performed with 43 inflammatory bowel diseases inpatients from clinical and surgical wards and emergency section of university hospital. We characterized demographic data, presence of comorbidities, disease location and behavior, surgical past-history, extra intestinal manifestations using standardized definitions. Laboratory results were abstracted from medical records and anthropometric measures were performed during our visit. RESULTS: The vast majority of the inflammatory bowel diseases patients had Crohn's disease (72.1%), with ileocolic involvement (60%), with a penetrating disease behavior (77.4%) while ulcerative colitis group presented mostly pancolitis (50%). Articular pain was the most common (44.2%) extra intestinal manifestation of inflammatory bowel diseases patients and 97.7% of them had at least one type of complication related to disease. Although, the previous use of specific medical therapies to inflammatory bowel diseases before the hospitalization (more frequently corticosteroids) was done (79%), the majority of the patients were hospitalized because of inflammatory bowel diseases activity. Disease activity was present in 80.7% of Crohn's disease and 50% ulcerative colitis patients. Inflammatory bowel diseases mortality rate was 5.5% (2/36). Comorbidities presence occurred only in 30.2% of inflammatory bowel diseases patients. The predominant surgery performed was intestinal resection. The interval between the symptoms appearance and the definitive diagnosis was less than 1 year in more than 70% of inflammatory bowel diseases patients. Laboratory findings detected were a decreased serum albumin (85.7%) and anemia (69.8%). The majority of the patients had at least one anthropometric alteration. The social stratification of the inflammatory bowel diseases group was similar to the Brazilian population. CONCLUSION: The inflammatory bowel diseases inpatients from the university hospital wards had more severe evolution of these illnesses with an active and extensive disease with complications and frequent extra intestinal manifestations, despite the prolonged use of corticosteroids. The higher prevalence of Crohn's disease inpatients than ulcerative colitis could reflect a higher aggressive behavior of this disease. The reduced serum albumin, anemia and anthropometric alterations are common inflammatory bowel diseases inpatients and could be related to a major severity of inflammatory bowel diseases evolution.

Análise descritiva dos perfis social, clínico, laboratorial e antropométrico de pacientes com doenças inflamatórias intestinais, internados no Hospital Universitário Clementino Fraga Filho, Rio de Janeiro / Descriptive analysis of the social, clinical, laboratorial and anthropometric profiles of inflammatory bowel disease inwards patients from the Clementino Fraga Filho University Hospital, Rio de Janeiro, RJ, Brazil

RACIONAL: Estudos epidemiológicos sobre doenças inflamatórias intestinais no Brasil são limitados devido a dificuldades diagnósticas e reduzidas amostras populacionais estudadas. A maioria dos estudos de sua prevalência disponível é composta por amostras de pacientes sob acompanhamento em ambulatório, entretanto a análise do perfil de pacientes com doenças inflamatórias intestinais hospitalizados pode auxiliar na detecção de marcadores preditivos de sua gravidade, o que permitirá intervenções médicas precoces visando a redução da taxa de hospitalização e os gastos do sistema de saúde. OBJETIVOS: Descrever o perfil social, clínico, laboratorial e antropométrico dos pacientes adultos com doenças inflamatórias intestinais internados em hospital universitário terciário. MÉTODOS: Estudo prospectivo com 43 pacientes com doenças inflamatórias intestinais internados nas enfermarias clínicas e cirúrgicas e no setor de emergência do Hospital Universitário Clementino Fraga Filho da Universidade Federal do Rio de Janeiro, RJ. Foram caracterizados dados demográficos, presença de co-morbidades, localização e comportamento clínico, história cirúrgica, manifestações extra-intestinais utilizando-se definições padronizadas. Os resultados laboratoriais foram verificados nos prontuários e as medidas antropométricas foram realizadas durante a entrevista. RESULTADOS: A maioria dos pacientes apresentou doença de Crohn (72,1 por cento), com localização íleo-colônica (60 por cento) e com comportamento penetrante (77,4 por cento), enquanto no grupo retocolite ulcerativa idiopática predominou a pancolite (50 por cento). No grupo total de retocolite ulcerativa idiopática, a artralgia foi a manifestação extra-intestinal mais freqüente (44,2 por cento) e 97,7 por cento já havia apresentado algum tipo de complicação relacionada à doença de base. Apesar do uso de terapêutica específica para doenças inflamatórias intestinais prévio à hospitalização em 79,1 por cento...

BACKGROUND: The epidemiologic survey in Brazil is limited probably due to a diagnosis deficiency and a small number of population-based studies performed. The majority of the prevalence studies available have evaluated inflammatory bowel diseases outpatients, but the knowledge of the profile of inflammatory bowel diseases inpatients is important in order to detect predictive markers of disease severity that will allow earlier medical intervention decreasing the rate of hospitalization and reducing the Health System costs. AIM: To determine social, clinical, laboratorial and anthropometric profiles of hospitalized adults inflammatory bowel diseases patients of a tertiary university hospital. METHODS: Prospective study was performed with 43 inflammatory bowel diseases inpatients from clinical and surgical wards and emergency section of university hospital. We characterized demographic data, presence of comorbidities, disease location and behavior, surgical past-history, extra intestinal manifestations using standardized definitions. Laboratory results were abstracted from medical records and anthropometric measures were performed during our visit. RESULTS: The vast majority of the inflammatory bowel diseases patients had Crohn's disease (72.1 percent), with ileocolic involvement (60 percent), with a penetrating disease behavior (77.4 percent) while ulcerative colitis group presented mostly pancolitis (50 percent). Articular pain was the most common (44.2 percent) extra intestinal manifestation of inflammatory bowel diseases patients and 97.7 percent of them had at least one type of complication related to disease. Although, the previous use of specific medical therapies to inflammatory bowel diseases before the hospitalization (more frequently corticosteroids) was done (79 percent), the majority of the patients were hospitalized because of inflammatory bowel diseases activity. Disease activity was present in 80.7 percent of Crohn's disease...

Clinical patterns of diarrhea in AIDS: a retrospective study at the Federal University Hospital, Rio de Janeiro

Three hundred and fifty two medical records of AIDS inpatients were analysed in a retrospective study to establish the frequency, clinical patterns and etiology of AIDS-related diarrhea. Diarrhea was observed in 58.8 per cent of the patients, being a chronic symptom in 65.7 per cent, and the first complaint in 24.6 per cent. The most common cause of diarrhea was coccidea and the etiology remained unknown in 56.1 per cent of the patients. Routine stool examination was the most sensitive method in the diagnosis of diarrhea. In countries with limited resources, the use of stool examinations seems to provide appropriate clinical management. The implementation of an objective protocol could improve the etiologic diagnosis of AIDS-related diarrhea without the burden of more complex and invasive technologies.