Caracterização do gene do choque térmico (HSP-70. 1) e sua relação com características de produção em bovinos leiteiros criados no semiárido brasileiro / Characterization of the thermal shock gene (HSP-70. 1) and its relationship with production characteristics in dairy cattle reared in the Brazilian semiarid

Objetivou-se com este trabalho avaliar a diversidade genética do gene HSP-70.1 e associar os polimorfismos encontrados com a performance de vacas leiteiras das raças Holandesa, Girolando (5/8H-G) e Sindi criadas em região do semiárido brasileiro. Os polimorfismos foram identificados e avaliados pela técnica de PCR-RFLP, usando-se a enzima de restrição EcoRII. Avaliou-se a variabilidade genética por meio do índice de diversidade padrão e da análise de variância molecular (AMOVA). Os polimorfismos identificados foram avaliados sobre as características de produção de leite. Foram identificados sete alelos, os quais demonstraram que houve polimorfismo para a região gênica analisada, e alguns alelos foram compartilhados entre os rebanhos. As raças bovinas Holandesa e Sindi foram similares geneticamente para o gene analisado. A AMOVA demonstrou que há variação genética entre os rebanhos e dentro deles, com a maior parte da variação ocorrendo dentro dos rebanhos para todos os grupos avaliados. Houve efeito dos alelos identificados sobre a produção de leite dos rebanhos das raças Holandesa (P<0,0001) e Girolando (P<0,0117). O gene HSP-70.1 foi polimórfico na população de bovinos leiteiros estudada, sendo, portanto, um marcador molecular promissor para avaliar a produção de leite de raças criadas em região semiárida.(AU)

The objective of this work was to evaluate the genetic diversity of the HSP-70.1 gene and to associate the polymorphisms found with the performance of Holstein, Girolando (5/8H-G) and Sindi dairy cows raised in region of the Brazilian semiarid. Polymorphisms were identified and evaluated using the PCR-RFLP technique using the EcoRII restriction enzyme. Genetic variability was evaluated using the standard diversity index and molecular variance analysis (AMOVA). The identified polymorphisms were evaluated on the characteristics of milk production. They were identified from the seven alleles, demonstrating that there was polymorphism for the analyzed gene region and some alleles were shared among the herds. The Holstein and Sindi bovine breeds were genetically like the analyzed gene. AMOVA demonstrated that there is genetic variation between and within the herds, with most of the variation occurring within the herds for all groups evaluated. There was effect of the alleles identified on the production of milk herds of Holstein and (P<0.0001) Girolando (P<0.0117) breeds. The HSP-70.1 gene was polymorphic in the population of dairy cattle studied, and therefore a promising molecular marker to evaluate milk production of breeds created in semiarid regions.(AU)

The ERBB2 gene polymorphisms rs2643194, rs2934971, and rs1058808 are associated with increased risk of gastric cancer

Gastric cancer (GC) is the third most lethal type of cancer worldwide. Single nucleotide polymorphisms (SNPs) in regulatory sites or coding regions can modify the expression of genes involved in gastric carcinogenesis, as ERBB2, which encodes for the tyrosine-kinase receptor HER-2. The aim of this work was to analyze the association of the polymorphisms: rs2643194, rs2517951, rs2643195, rs2934971, and rs1058808 with GC, as they have not yet been analyzed in GC patients, as well as to report their frequency in the general Mexican population (GMP). We studied genomic DNA from subjects with GC (n=74), gastric inflammatory diseases (GID, n=76 control subjects), and GMP (n=102). Genotypes were obtained by means of real-time PCR and DNA-sequencing. The risks for GC were estimated through odds ratio (OR) using the Cochran-Armitage trend test and multinomial logistic regression. Increased risk for GC was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12−6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01−5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00−4.87, P=0.046). The SNPs rs2643194, rs2934971, and rs1058808 of the ERBB2 gene were associated with increased risk for GC.

Comparative study of the accuracy of different technique for the laboratory diagnosis of schistosomiasis mansoni in areas of low endemicity in Barra Mansa City, Rio de Janeiro State, Brazil

Schistosomiasis constitutes a major public health problem, with an estimated 200 million people infected worldwide. Many areas of Brazil show low endemicity of schistosomiasis, and the current standard parasitological techniques are not sufficiently sensitive to detect the low-level helminth infections common in areas of low endemicity (ALEs). This study compared the Kato-Katz (KK); Hoffman, Pons, and Janer (HH); enzyme-linked immunosorbent assay- (ELISA-) IgG and ELISA-IgM; indirect immunofluorescence technique (IFT-IgM); and qPCR techniques for schistosomiasis detection in serum and fecal samples, using the circumoval precipitin test (COPT) as reference. An epidemiological survey was conducted in a randomized sample of residents from five neighborhoods of Barra Mansa, RJ, with 610 fecal and 612 serum samples. ELISA-IgM (21.4%) showed the highest positivity and HH and KK techniques were the least sensitive (0.8%). All techniques except qPCR-serum showed high accuracy (82­95.5%), differed significantly from COPT in positivity , and showed poor agreement with COPT. Medium agreement was seen with ELISA-IgG (Kappa = 0.377) and IFA (Kappa = 0.347). Parasitological techniques showed much lower positivity rates than those by other techniques. We suggest the possibility of using a combination of laboratory tools for the diagnosis of schistosomiasis in ALEs.

Enfermedad celiaca: estudio descriptivo en la Clínica Anglo Americana / Celiac disease: descriptive study in the Anglo American clinic

INTRODUCCIÓN: La enfermedad celiaca (EC) es una condición en la que la ingesta de gluten desencadena una respuesta de autoinmunidad que genera aplanamiento de las vellosidades intestinales causando malabsorción. La prevalencia mundial es de aproximadamente 1%. En nuestro país no es conocida MATERIALES Y MÉTODOS: Estudio retrospectivo, descriptivo y observacional realizado en la Clínica Angloamericana entre Septiembre del 2004 y Febrero 2012. Se revisaron las historias clínicas, reportes endoscópicos y reportes de biopsias duodenales de los pacientes con anti Transglutaminasa tisular (TTG) positiva, mayores de 18 años. Resultados: Se estudiaron 39 casos, siendo 26 (66.7%) mujeres y 13 (33.3%) varones. La edad media de diagnóstico fue 61.25 años. Los síntomas fueron diarrea crónica en 32 (82.1%), dolor abdominal en 22 (56.4%), distensión abdominal en 14 (35.9%) y otros en menor frecuencia. Ocho (20.5%) pacientes presentaron anemia. Solo 5 (12.8%) pacientes presentaron hallazgos endoscópicos compatibles con EC. La clasificación Marsh de las biopsias duodenales fueron 0: 5 (12.7%), I: 1 (2.6%), II: 0 (0%), III A: 20 (51.3%), III B: 12 (30.8%) y III C: 1 (2.6%). CONCLUSIONES: La EC debe ser considerada como diagnóstico diferencial de pacientes con síntomas gastrointestinales inespecíficos de larga data, teniendo en cuenta también sus manifestaciones extraintestinales. Para el diagnóstico debe utilizarse la anti TTG como prueba inicial y posteriormente realizar una biopsia duodenal para estadiaje.

BACKGROUND: Celiac disease (CD) is a condition in which gluten intake develops an autoimmune response genetaring intestinal villous atrophy, causing malabsorption. Prevalence worlwide is approximately 1%, in our country it is not known. MATERIAL AND METHODS: Retrospective, descriptive, observational study in Anglo American Clinic between September 2004 and February 2012. We reviewed the medical charts, upper Gl endoscopy reports and duodenal biopsy reports of all patients with positive anti TTG results, who were older than 18 years of age. RESULTS: We studied 39 cases, 26 (66.7%) women and 13 (33.3%) men. Mean age was 61.25 years. The symptoms were chronic diarrhea in 32 (82.1%), abdominal pain in 22 (56.4%), abdominal distention in 14 (35.9%), and others in lower frequency. Eight (20.5%) patients had anemia. Just 5 (12.8%) had upper endoscopy findings consistent with CD, and Marsh classification was: 0: 5 (12.7%), l: 1 (2.6%), ll: 0 (0%), llll A: 20 (51.3%), lll B: 12 (30.8%) y lll C: 1 (2.6%). CONCLUSIONS: CD should be considered as a differential diagnosis of patients with non-specific-long-term gastrointestinal symptoms, extraintestinal symptoms should also be taken into account. Diagnosis should be made with anti TTG as the initial test and posteriorly with a duodenal biopsy for staging.

Hepatitis Autoinmune con elevacion de CA 19-9 y Normalización con tratamiento inmunosupresor: Reporte de Caso y Revisión de La Literatura / Autoimmune hepatitis with elevation of CA 19-9 and Normalization with immunosuppressive treatment: Case Report and Review of Literature

Describimos el caso de una mujer de 82 anos que se presento con ictericia, dilatación de colédoco, alteración de la bioquímica hepática y niveles elevados de CA-19.9 (741 UI). Se descartaron neoplasias pancreáticas e intestinales. La biopsia hepática mostróinflamación crónica, cirrosis y hallazgos consistentes con hepatitis autoinmune. La paciente recibió tratamiento con corticoides y tanto la enfermedad como los niveles de CA -19-9 regresaron a niveles normales.

We describe the case of an 81 year old woman that presented with jaundice, bile ductdilation, hepatic liver tests abnormalities and elevated levels of CA-19-9 (741 UI). Intestinaland pancreatic neoplasia were ruled out. Hepatic biopsy revealed chronic inflammation,cirrhosis and findings consistent with autoimmune hepatitis. The patient was given a courseof corticoids and the disease as well as levels of CA-19-9 returned to normal levels.

Nuestra experiencia en el tratamiento del adenoma de prostata con laser ND-Yag / Our experience in the treatment of prostate adenoma with ND-Yag laser

Se trataron con láser ND-Yag 154 pacientes entre 42 y 82 años de edad (promedio 61 años.) Se les realizó prostatectomía con técnica de coagulación (46 pacientes) y de contacto (108); PSA previo: promedio 2,55 mg/ml (máximo 7,6 mínimo 0,3 ng/ml); flujo máximo previo: promedio 10,06 ml/seg; score AUA: promedio 26,9; medicacvión postoperatoria: 1) basada en AINE (86 pacientes); 2) basada en corticoides (68 pacientes). El score de la AUA disminuyó significativamente hasta un 4,66 a los 12 meses. El flujo máximo promedio alejado fue de 24,8 ml/seg a los 12 meses. Los síntomas irritativos se redujeron notoriamente con fibras de cuarzo y medicación antiedema desde un 51 por ciento a un 23,5 por ciento. El porcentaje de recaterizaciones inicial de un 15 por ciento bajó a 8,8 por ciento. El seguimiento con eco prostática transrectal a 6 y 12 meses y RMN en los mismos meses tuvieron correlación con el flujo y el score de síntomas, a la vez que se suministraron datos pronósticos de una evolución alejada