oalib

Publish in OALib Journal

ISSN: 2333-9721

APC: Only $99

Submit

Any time

2020 ( 11 )

2019 ( 706 )

2018 ( 853 )

2017 ( 773 )

Custom range...

Search Results: 1 - 10 of 483486 matches for " Luis A. Gayol Mecías "
All listed articles are free for downloading (OA Articles)
Page 1 /483486
Display every page Item
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.
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.
Diagnóstico de distrofia muscular de Duchenne mediante análisis del ácido desoxinucleotico y su aplicación en la prevención
Rodríguez Hernández,Mayra; Ferreira Capote,Raúl; Gayol Mecías,Luis A.; Quintana Aguilar,Jorge; Rendón,Rebeca; Méndez del Castillo,Dora;
Revista Cubana de Pediatr?-a , 1996,
Abstract: 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.
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.
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.
El Círculo Burgués: La sociabilidad en Francia, 1810-1848
Sandra Gayol
Prismas : Revista de Historia Intelectual , 2010,
Abstract:
Historia y celebración. América y sus centenarios
Sandra Gayol
Prismas : Revista de Historia Intelectual , 2012,
Abstract:
Maria Silvia Di Liscia y Andrea Lluch (editoras) Argentina en exposición. Ferias y exhibiciones durante los siglos XIX y XX. Colección Universos Americanos
Sandra Gayol
Bolet?-n del Instituto de Historia Argentina y Americana Dr. Emilio Ravignani , 2012,
Abstract:
Quality and chemical composition of residual cakes obtained by pressing jojoba seeds produced in La Rioja, Argentina
Fernanda Gayol,M; Labuckas,Diana O.; Oberti,Juan C.; Grosso,Nelson R; Guzmán,Carlos A;
The Journal of Argentine Chemical Society , 2007,
Abstract: the objectives of the present work were to compare the chemical composition in a residual cakes (rc) obtained by the industrial pressing process of jojoba seeds harvested in the years 2001, 2002 and 2003 in ba?ado de los pantanos, la rioja, argentina and to analyze the effects of a second pressing process on the residual cakes. the analyzed parameters were moisture, ashes, lipids, proteins, nitrogen-free extract, total phenolic compounds, tannins, acid value, peroxide value, and p-anisidine value. rc 2001 and rc 2002 showed higher lipid content (13.42 % and 10.20%, respectively) and lower protein percentage (23.20 % y 24.86 %, respectively), and also showed higher acid value (6.57 and 5.11 mg koh/g, respectively), peroxide value (4.58 and 3.65 meq o2/kg, respectively) and p-anisidine (0.80 and 0.75, respectively) than rc 2003. longer storage time with air contact and higher tiperature during the extraction process of jojoba seed wax were the factors that affected the quality of rc.
Page 1 /483486
Display every page Item


Home
Copyright © 2008-2017 Open Access Library. All rights reserved.