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Search Results: 1 - 10 of 227717 matches for " Raúl Ferreira Capote "
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Caracterización del sistema polimórfico inserción/deleción del gen de la enzima convertidora de angiotensina en una muestra poblacional cubana
Casanueva Calero,Karina; Ferreira Capote,Raúl;
Revista Cubana de Medicina , 2011,
Abstract: introduction: the insertion/deletion polymorphism of the angiotensin-converting enzyme is one of the more studied markers of predisposition to diseases of the renin-angiotensin axis. the contradictory findings from the studies of its association with diverse affection make necessary to typify previously the interesting population. objectives: to characterize the behavior of this polymorphism in the main cuban racial groups: caucasoid and negroid. methods: by means of the polymerase chain reaction-based on method the genotyping was made in 93 samples of peripheral blood obtained from adults apparently healthy (49 caucasoid and 44 negroid). the allelic and genotypical-group frequencies were estimated. results: the id and dd genotypes were predominant in the caucasoid and negroid, respectively. the comparison of the genotype frequencies among both groups showed significant differences for the id genotype. the d allele was more frequent in the two study subpopulations. both are in balance of hardy-weinberg for this polymorphism. the comparisons of the allelic and genotypical distributions among similar foreign populations and groups had not significant differences. conclusions: results allows us to consider the values of genotypical and allelic frequencies obtained as reference for further studies on the association with diseases in cuban population and suggest the need of to take into account the own features of this polymorphism in each racial group.
Caracterización del sistema polimórfico inserción/deleción del gen de la enzima convertidora de angiotensina en una muestra poblacional cubana Characterization of the angiotensin-converting enzyme gene insertion/deletion polymorphism in a sample of Cuban population
Karina Casanueva Calero,Raúl Ferreira Capote
Revista Cubana de Medicina , 2011,
Abstract: Introducción: El polimorfismo de inserción/deleción del gen de la enzima convertidora de angiotensina es uno de los marcadores de predisposición a enfermedades más estudiados del eje renina-angiotensina. Los hallazgos contradictorios de estudios de su asociación con diversas afecciones hacen necesario tipificar previamente las poblaciones de interés. Objetivos: Caracterizar el comportamiento de este polimorfismo en los principales grupos raciales cubanos: caucasoide y negroide. Métodos: Mediante un método basado en la reacción en cadena de la polimerasa se genotipificaron 93 muestras de sangre periférica obtenidas de adultos aparentemente sanos (49 caucasoides y 44 negroides). Se calcularon las frecuencias alélicas y genotípicas grupales. Resultados: Los genotipos ID y DD predominaron en los grupos caucasoide y negroide, respectivamente. La comparación de las frecuencias genotípicas entre ambos grupos evidenció diferencias significativas para el genotipo ID. El alelo D resultó el más frecuente en las 2 subpoblaciones estudiadas. Ambas se encuentran en equilibrio de Hardy-Weinberg para este polimorfismo. Las comparaciones de las distribuciones alélicas y genotípicas entre los grupos y poblaciones foráneas similares, no arrojaron diferencias significativas. Conclusiones: Los resultados permiten considerar los valores de frecuencias genotípicas y alélicas obtenidos como referencia para posteriores estudios de asociación con enfermedades en la población cubana e indican la necesidad de tener en cuenta las características particulares de este polimorfismo en cada grupo racial. Introduction: The insertion/deletion polymorphism of the angiotensin-converting enzyme is one of the more studied markers of predisposition to diseases of the renin-angiotensin axis. The contradictory findings from the studies of its association with diverse affection make necessary to typify previously the interesting population. Objectives: To characterize the behavior of this polymorphism in the main Cuban racial groups: Caucasoid and Negroid. Methods: By means of the polymerase chain reaction-based on method the genotyping was made in 93 samples of peripheral blood obtained from adults apparently healthy (49 Caucasoid and 44 Negroid). The allelic and genotypical-group frequencies were estimated. Results: The ID and DD genotypes were predominant in the Caucasoid and Negroid, respectively. The comparison of the genotype frequencies among both groups showed significant differences for the ID genotype. The D allele was more frequent in the two study subpopulations. Both are in balance
Helicobacter pylori en pacientes con diferentes enfermedades gastroduodenales
Martínez Echavarría,María Teresa; Ferreira Capote,Raúl; González Torres,Maximino;
Revista Cubana de Medicina , 2008,
Abstract: the role played by helicobacter pylori in the development of different digestive diseases has been widely studied and discussed. the presence of this bacterium in biopsy samples obtained by endoscopy was studied. 69 patients with duodenal ulcer, gastric ulcer, chronic gastritis and dyspepsia were investigated. the diagnoses of gastric ulcer and chronic gastritis were histologically confirmed. 27 duodenal ulcers, 12 gastric ulcers, 24 chronic gastritis and 6 dyspepsias were analyzed. the presence of helicobacter pylori was detected through the amplification of a fragment of the ure a gene by polymerase chain reaction in 100 % of the duodenal ulcers, in 100 % of the gastric ulcers, in 83 % of the dyspepsias and in 92 % of chronic gastritis, for a total prevalence of 95.7 %.
Diagnóstico de distrofia muscular de Duchenne mediante análisis del ácido desoxinucleotico y su aplicación en la prevención
Mayra Rodríguez Hernández,Raúl Ferreira Capote,Luis A. Gayol Mecías,Jorge Quintana Aguilar
Revista Cubana de Pediatr?-a , 1996,
Abstract: Se define una estrategia para la prevención en Cuba de la distrofia muscular de Duchenne (DMD), una de las enfermedades hereditarias letales más frecuentes, y se evalúan la factibilidad de su aplicación y los problemas que pudieran dificultar su implantación al nivel nacional. La estrategia se basa fundamentalmente en la necesidad de detectar las familias afectadas, la definición de las mujeres portadoras o en riesgo de serlo y el estudio molecular de los miembros de interés con anterioridad al ofrecimiento de los servicios de diagnóstico prenatal mediante análisis directo -detección de deleciones en el gen DMD mediante reacción en cadena de la polimerasa (PCR) o análisis indirecto- empleo de los marcadores denominados polimorfismos en la longitud de los fragmentos de restricción (RFLPs) en análisis de ligamento. Se concluye en que la aplicación de esta estrategia es factible y conveniente, pues permite ofrecer el diagnóstico prenatal al 75 % de las mujeres portadoras. Su eficiencia en la prevención del nacimiento de nuevos enfermos DMD se demuestra en 2 diagnósticos prenatales realizados, uno de los cuales detectó un embarazo afectado que fue interrumpido por solicitud de los padres. A strategy is defined for the prevention in Cuba of the Duchenne's muscular dystrophy (DMD), one of the most frequent lethal hereditary diseases, and the feasibility of its application, and the troubles that might difficult its implantation at a national level, are evaluated. This strategy is mainly based on the need of detecting the affected families, the definition of the carrier women, or the women at risk of being carriers, and the molecular study of the members of interest with anteriority to the offering of prenatal diagnosis services by direct analysis -detection of DMD gen deletions by (PCR) polymerase chain reaction, or indirect analysis-, use of the markers called polymorphisms in the length of the restriction fragments (RFLPs) in ligament analysis. It is concluded that the application of this strategy is feasible and convenient, since it allows offtering a prenatal diagnosis to the 75 % of the carrier women. Its efficiency in the prevention of births of new DMD ill newborns is showed in two prenatal diagnosis, one of which detected an affected pregnancy, interrupted due to the parents'solicitude.
Helicobacter pylori en pacientes con diferentes enfermedades gastroduodenales Helicobacter pylori in patients with different gastroduodenal diseases
María Teresa Martínez Echavarría,Raúl Ferreira Capote,Maximino González Torres
Revista Cubana de Medicina , 2008,
Abstract: El papel que desempe a Helicobacter pylori en el desarrollo de diferentes enfermedades digestivas ha sido ampliamente investigado y discutido. Se estudió la presencia de esta bacteria en muestras de biopsia obtenidas mediante endoscopia. Se tomaron 69 pacientes con úlcera duodenal, úlcera gástrica, gastritis crónica y dispepsia. Los diagnósticos de úlcera gástrica y gastritis crónica fueron confirmados histológicamente. Se analizaron 27 úlceras duodenales, 12 úlceras gástricas, 24 gastritis crónicas y 6 dispepsias. Se detectó la presencia de Helicobacter pylori a través de la amplificación de un fragmento del gen Ure A mediante la reacción en cadena de la polimerasa, en el 100 % de las úlceras duodenales, en el 100 % de las úlceras gástricas, en el 83 % de las dispepsias y en el 92 % de las gastritis crónicas, para una prevalencia total del 95,7 %. The role played by Helicobacter pylori in the development of different digestive diseases has been widely studied and discussed. The presence of this bacterium in biopsy samples obtained by endoscopy was studied. 69 patients with duodenal ulcer, gastric ulcer, chronic gastritis and dyspepsia were investigated. The diagnoses of gastric ulcer and chronic gastritis were histologically confirmed. 27 duodenal ulcers, 12 gastric ulcers, 24 chronic gastritis and 6 dyspepsias were analyzed. The presence of Helicobacter pylori was detected through the amplification of a fragment of the Ure A gene by polymerase chain reaction in 100 % of the duodenal ulcers, in 100 % of the gastric ulcers, in 83 % of the dyspepsias and in 92 % of chronic gastritis, for a total prevalence of 95.7 %.
Diagnóstico molecular del Síndrome X Frágil en un grupo control y miembros de 3 familias afectadas
Acevedo López,Ana María; Ferreira Capote,Raúl; Gayol Mecías,Luis A.; Méndez del Castillo,Dora;
Revista Cubana de Pediatr?-a , 1996,
Abstract: the fragile x syndrome is the most frequent form of hereditary mental retardation, with an incidence of 1 in 1 500 males, and 1 in 2 500 females; it is caused by mutations that increase the size of a fragment of specific desoxinucleotic acid (dna) in the xq 27.3 region of the x chromosome. the outcome in the introduction and application of the stb12.3 molecular probe in a control group and in affected members of three families, is presented. the x-rays of the southern blot that show the diagnosis patterns possible to obtain, are exposed. this methodology is more direct, effective and reliable for the diagnosis and prevention of this form of mental retardation.
Diagnóstico molecular del Síndrome X Frágil en un grupo control y miembros de 3 familias afectadas
Ana María Acevedo López,Raúl Ferreira Capote,Luis A. Gayol Mecías,Dora Méndez del Castillo
Revista Cubana de Pediatr?-a , 1996,
Abstract: El síndrome X frágil constituye la forma de retraso mental hereditario más frecuente con una incidencia de 1 en 1 500 varones y de 1 en 2 500 hembras; es causado por mutaciones que aumentan el tama o de un fragmento de ácido desoxinucleótico (DNA) específico en la región Xq 27.3 del cromosoma X. Se presenta el resultado en la introducción y aplicación de la sonda molecular StB12.3 en un grupo control y en miembros afectados de 3 familias. Se exponen las radiografías de los Southern blot que exhiben los patrones diagnósticos posibles a obtener. Esta metodología es mucho más directa, eficiente y confiable para el diagnóstico y prevención de esta forma de retraso mental. The fragile X syndrome is the most frequent form of hereditary mental retardation, with an incidence of 1 in 1 500 males, and 1 in 2 500 females; it is caused by mutations that increase the size of a fragment of specific desoxinucleotic acid (DNA) in the Xq 27.3 region of the X chromosome. The outcome in the introduction and application of the StB12.3 molecular probe in a control group and in affected members of three families, is presented. The x-rays of the Southern blot that show the diagnosis patterns possible to obtain, are exposed. This methodology is more direct, effective and reliable for the diagnosis and prevention of this form of mental retardation.
Caracterización de deleciones en el gen responsable de la distrofia muscular de Duchenne: su frecuencia en pacientes cubanos
Rodríguez Hernández,Mayra; Ferreira Capote,Raúl; Gayol Mecías,Luis Alberto; Luis González,Ricardo Santiago;
Revista Cubana de Medicina , 1996,
Abstract: duchenne muscular dystrophy is the commonest and most serious of all muscular dystrophies affecting 1 out of 3 500 live born males and resulting in death within the second or third decade of life. this work was aimed at estimating the frequency of deletions in the dmd gene as the commonest cause of the disease and its characterization. the multiplex pcr technique was used in this study. a number of 30 individuals presenting with duchenne muscular dystrophy were studied. a deletion in dmd gene was observed in 53 % of cases, while deletions detected in 87 % of patients were located in the region 3' of dmd gene, particularly, exons 48-51 of such gene were involved in 62.5 % of cases.
Genotipo cag A+ en cepas de Helicobacter pylori asociadas a úlcera péptica, gastritis crónica y cáncer gástrico
Martínez Echavarría,María Teresa; González Torres,Maximino; Ferreira Capote,Raúl; Mas Páez,Juan Antonio;
Revista Cubana de Medicina , 2008,
Abstract: abstract 171 patients with duodenal ulcer, gastric ulcer, chronic gastritis and gastric cancer were studied. the last 3 were histologically confirmed. 56 cases with duodenal ulcer, 48 with gastric ulcer, 47 with chronic gastritis and 20 with gastric cancer were analyzed. the presence of helicobacter pylori was detected by pcr in 98.2 % of the duodenal ulcers; in 95.8 % of the gastric ulcers; in 95.0 % of the gastric cancers; and in 93.6 % of the chronic gastritis. the cag a genotyping of the strains found proved to be positive in 80.0 % of the duodenal ulcers; in 72.7 % of the chronic gastritis; in 69.6 % of the gastric ulcers; and in 42.1 % of the gastric cancers, for a total prevalence of 70.7 %. both, the ulcers as a whole and the chronic gastritis showed a prevalence of cag a+ strains of helicobacter pylori significantly higher than gastric cancer (p = 0,19).
Caracterización de deleciones en el gen responsable de la distrofia muscular de Duchenne: su frecuencia en pacientes cubanos
Mayra Rodríguez Hernández,Raúl Ferreira Capote,Luis Alberto Gayol Mecías,Ricardo Santiago Luis González
Revista Cubana de Medicina , 1996,
Abstract: La distrofia muscular de Duchenne es la más común y grave de las distrofias musculares, afecta a 1 de cada 3 500 varones nacidos vivos y provoca la muerte en la segunda o tercera década de vida. Con nuestro trabajo nos propusimos calcular la frecuencia con que se encuentran las delecciones en el gen (DMD) como causa más común de la enfermedad y su caracterización. Se empleó la técnica del PCR multiplex. Se estudiaron 30 individuos con diagnóstico de DMD. En el 53 % de los casos se presentó una delección en el gen DMD y el 87 % de las delecciones detectadas estuvieron localizadas en la región 3' del gen DMD, particularmente el 62,5 % de ellas involucraban los exónes 48-51 de dicho gen. Duchenne muscular dystrophy is the commonest and most serious of all muscular dystrophies affecting 1 out of 3 500 live born males and resulting in death within the second or third decade of life. This work was aimed at estimating the frequency of deletions in the DMD gene as the commonest cause of the disease and its characterization. The multiplex PCR technique was used in this study. A number of 30 individuals presenting with Duchenne muscular dystrophy were studied. A deletion in DMD gene was observed in 53 % of cases, while deletions detected in 87 % of patients were located in the region 3' of DMD gene, particularly, exons 48-51 of such gene were involved in 62.5 % of cases.
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