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Search Results: 1 - 10 of 3929 matches for " Nancy Yaneth; Tamayo "
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Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II
López,Greizy; Gelvez,Nancy Yaneth; Tamayo,Martalucía;
Biomédica , 2011,
Abstract: introducción. el síndrome de usher se caracteriza por hipoacusia neurosensorial congénita, retinitis pigmentaria y disfunción vestibular. es la causa más frecuente de sordo-ceguera en el mundo. se divide en tres tipos clínicos y doce subtipos genéticos. el tipo ii es la forma más común y cerca de 80 % de los casos corresponden al subtipo 2 del síndrome de usher. objetivo. establecer la frecuencia de mutaciones en la isoforma corta del gen ush2a en individuos colombianos con síndrome de usher, tipo ii. materiales y métodos. se estudiaron 26 individuos colombianos con diagnóstico clínico de síndrome de usher, tipo ii. se hizo análisis de sscp para los 20 exones que codifican para la isoforma corta y se secuenciaron los patrones anormales. además, se secuenció el exón 13 en todos los individuos, ya que allí se encuentra la mutación más frecuente de este gen. resultados. la mutación más frecuente es la c.2299delg, correspondiente al 27 % de la población. la segunda mutación identificada es la p.r334w, con una frecuencia de 15 %. se identificó un nuevo cambio, el g.129g>t,en la región 5?utr del gen, correspondiente al 4 % de la población. se identificaron cuatro cambios polimórficos, uno de ellos es una deleción nueva identificada en el exón 20. conclusiones. se logró establecer que, al menos, 38 % de la población analizada con síndrome de usher, tipo ii, presenta alguna mutación en la isoforma corta del gen de la usherina. el diagnóstico molecular se logró establecer en el 23 %.
Mutational frequencies in usherin (USH2A gene) in 26 Colombian individuals with Usher syndrome type II Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II
Greizy López,Nancy Yaneth Gelvez,Martalucía Tamayo
Biomédica , 2011,
Abstract: Introduction. Usher syndrome is a disorder characterized by progressive retinitis pigmentosa, prelingual sensory hearing loss and vestibular dysfunction. It is the most frequent cause of deaf-blindness in humans. Three clinical types and twelve genetic subtypes have been characterized. Type II is the most common, and among these cases, nearly 80% have mutations in the USH2A gene. Objective. The aim of the study was to establish the mutational frequencies for the short isoform of USH2A gene in Usher syndrome type II. Materials and methods. Twenty-six Colombian individuals with Usher syndrome type II were included. SSCP analysis for 20 exons of the short isoform was performed and abnormal patterns were sequenced. Sequencing of exon 13 of the USH2A gene was performed for all the individuals because the most frequent mutation is located in this exon. Results. The most frequent mutation was c.2299delG, identified in the 27% (n=8) of the sample. The second mutation, p.R334W, showed a frequency of 15%. A new variant identified in the 5'UTR region, g.129G>T, was present in 1 individual (4%). Four polymorphisms were identified; one of them is a new deletion in exon 20, first reported in this study. Conclusions. Mutations in the usherin short isoform were identified in 38% of a sample of 26 USH2 cases. Molecular diagnosis was established in 7 of the 26. Introducción. El síndrome de Usher se caracteriza por hipoacusia neurosensorial congénita, retinitis pigmentaria y disfunción vestibular. Es la causa más frecuente de sordo-ceguera en el mundo. Se divide en tres tipos clínicos y doce subtipos genéticos. El tipo II es la forma más común y cerca de 80 % de los casos corresponden al subtipo 2 del síndrome de Usher. Objetivo. Establecer la frecuencia de mutaciones en la isoforma corta del gen USH2A en individuos colombianos con síndrome de Usher, tipo II. Materiales y métodos. Se estudiaron 26 individuos colombianos con diagnóstico clínico de síndrome de Usher, tipo II. Se hizo análisis de SSCP para los 20 exones que codifican para la isoforma corta y se secuenciaron los patrones anormales. Además, se secuenció el exón 13 en todos los individuos, ya que allí se encuentra la mutación más frecuente de este gen. Resultados. La mutación más frecuente es la c.2299delG, correspondiente al 27 % de la población. La segunda mutación identificada es la p.R334W, con una frecuencia de 15 %. Se identificó un nuevo cambio, el g.129G>T,en la región 5'UTR del gen, correspondiente al 4 % de la población. Se identificaron cuatro cambios polimórficos, uno de ellos es una deleción nueva
Eficacia y toxicidad de los antimoniales pentavalentes (Glucantime? y Pentostam?) en un modelo animal de leishmaniasis cutánea americana: aplicación de la luminometría
Henao,Héctor Hernán; Osorio,Yaneth; Saravia,Nancy Gore; Gómez,Arlen; Travi,Bruno;
Biomédica , 2004,
Abstract: the pentavalent antimonial compounds glucantime? and pentostam? are the first line drugs used in anti- leishmania treatment. however, no in vivo studies have compared the efficacy and toxicity of these drugs where host variability has been controlled. biochemical studies of leishmania have detected differences between the two drugs with regard to dna topoisomerase i inhibition, a phenomenon that possibly impacts treatment efficacy. to evaluate the clinical efficacy, hamsters were infected intradermally in the right hind foot with 106 promastigotes of a wild type or luciferase-transfected leishmania panamensis. at three weeks post-inoculation, the animals were treated intramuscularly with either glucantime? or pentostam? (30, 60 or 120 mg sbv/kg per day for 20 days). to evaluate parasitological efficacy a luminometry assay was standardized for quantitation of amastigotes in hamster tissues. to evaluate toxicity, hamsters were treated intramuscularly with glucantime? or pentostam? (120, 160 or 240 mg sbv/kg per day for 20 days). animals inoculated with either of the parasite strains and treated with either drug, showed a similar rate of lesion reduction, as compared to untreated controls ( p<0.01). parasite burden was also comparable, and no significant differences were found in the cure rate. no renal or hepatic alterations occurred as evidenced by normal serum levels of creatinine, aspartate aminotransferase, alanine aminotransferase and amylase. hamsters treated with 120 mg sbv/kg per day for 20 days or higher doses of pentostam? showed macro- and microscopic signs of inflammation at the site of injection. these effects were absent in the animals treated with glucantime?. the results confirmed clinical observations regarding the similar efficacy of the two drugs, as well as the higher local toxicity of pentostam?.
Modelo para la integración de redes IPv4 -IPv6 basado en túneles
López,Danilo; Gelvez García,Nancy Yaneth; Pedraza,Luis F;
Tecnura , 2010,
Abstract: this paper has as intention set up a general model in order to interconnect heterogeneous nets ipv4-ipv6, guarantying the integrity of the data making use of transition techniques.
Modelo para la protección de conexiones en redes IPS
López,Danilo; Gelvez García,Nancy Yaneth; Pedraza,Luis F;
Tecnura , 2011,
Abstract: the paper summarizes the first approximation generated to a proposal that permits to reduce the risk probability of disconnections and losing data in ip networks.
Modelo para la protección de conexiones en redes IP
Danilo López,Nancy Yaneth Gelvez García,Luis F. Pedraza
Tecnura , 2011,
Abstract: The paper summarizes the first approximation generated to a proposal that permits to reduce the risk probability of disconnections and losing data in IP networks.
Modelo para la integración de redes IPv4 – IPv6 basado en túneles
Danilo López,Nancy Yaneth Gelvez García,Luis F. Pedraza
Tecnura , 2010,
Abstract: The intention of this paper is to set up a general model in order to interconnect heterogeneous nets IPv4-IPv6, guarantying the integrity of the data, making use of transition techniques.
Efecto de tres coberturas plásticas y dos sistemas de siembra en la fenología de la cebolla de bulbo Effect of three polyethylene mulchs and two plant systems on the phenology of the common onion (Allium cepa L.) at the Sabana de Bogota
Rondón Sandra Yaneth,Torres Becerra Nancy,Laverde Pe?a Héctor,Pinzón Hernán
Agronomía Colombiana , 1996,
Abstract: En el Centro de Investigaciones Agropecuarias Tibaitatá CORPOICA, se cultivo cebolla de bulbo (Allium cepa L.) híbrido Yellow Granex PRR, en siembra directa y trasplante, sobre tres coberturas plásticas (negra, gris y blanca), un testigo en suelo desnudo y un testigo absoluto, durante el segundo semestre de 1995 y los meses de Enero y Febrero de 1996. Para ambos sistemas de siembra, con las coberturas y sin elias, las plantas de cebolla presentaron las mismas fenofases, las cuales fueron: Emergencia, primera hoja verdadera, plántula, iniciación del llenado del bulbo, máximo desarrollo vegetativo y terminación del llenado del bulbo. La duración de cada fenofase fue diferente entre tratamientos, pues las plantas bajo coberturas emergieron primero que en el testigo (suelo desnudo) y en el semillero. Para siembra directa, el inicio del llenado del bulbo ocurrió antes que en el transplante; este atraso se relacionó con el estrés causado por el cambio del semillero al lugar definitivo y la adaptación al mismo. En la terminación del llenado del bulbo, los coberturas plásticas negra y gris en siembra directa registraron mayores pesos secos del bulbo, en comparación con el acolchado blanco y el testigo (suelo desnudo). Three polyethylene mulches (black, white and gray) and two planting systems (direct seeded and transplant) were tested in common onion (Allium cepa L.) hybrid Yellow Granex PRR, whit the objective of evaluating the duration of developmental stages. The phenophases established were: Emergence, first true leaf, young plantlet, bulb filling initiation, maximal vegetative development and bulb filling termination. There were differences among planting systems in the duration of phenophases; the least duration occurred with the black and gray polyethylene mulches. The combination of these colored plastics and direct seeding shortened the vegetative cycle in 70 days and the yield per plant was higher than in the white plastic mulch and bare soil.
Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)
Juan Rodriguez-Paris,Marta L. Tamayo,Nancy Gelvez,Iris Schrijver
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0021665
Abstract: Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in individuals homozygous, or compound heterozygous for these deletions or one such deletion and a mutation in GJB2. Recently, we have demonstrated that the del(GJB6-D13S1830) deletion contributes to hearing loss due to an allele-specific lack of GJB2 mRNA expression and not as a result of digenic inheritance, as was postulated earlier. In the current study we investigated the smaller del(GJB6-D13S1854) deletion, which disrupts the expression of GJB2 at the transcriptional level in a manner similar to the more common del(GJB6-D13S1830) deletion. Interestingly, in the presence of this deletion, GJB2 expression remains minimally but reproducibly present. The relative allele-specific expression of GJB2 was assessed by reverse-transcriptase PCR and restriction digestions in three probands who were compound heterozygous for a GJB2 mutation and del(GJB6-D13S1854). Each individual carried a different sequence variant in GJB2. All three individuals expressed the mutated GJB2 allele in trans with del(GJB6-D13S1854), but expression of the GJB2 allele in cis with the deletion was almost absent. Our study clearly corroborates the hypothesis that the del(GJB6-D13S1854), similar to the larger and more common del(GJB6-D13S1830), removes (a) putative cis-regulatory element(s) upstream of GJB6 and narrows down the region of location.
Estudio sobre la exposición ocupacional a sangre y fluidos corporales en el personal de enfermería de un hospital de referencia de Buenos Aires, Argentina
Warley,Eduardo; Pereyra,Nancy; Desse,Javier; Cetani,Silvia; de Luca,Adriana; Tamayo Antabak,Natalia; Szyld,Edgardo;
Revista Panamericana de Salud Pública , 2009, DOI: 10.1590/S1020-49892009000600009
Abstract: objectives: to determine the frequency of occupational blood and body fluids exposure (obbfe) among the nursing staff at the dr. diego paroissien hospital in buenos aires, argentina; analyze the possible risk factors associated; and assess the level of knowledge regarding universal precautions and control procedures following exposure. methods: a cross-sectional descriptive study was performed using a voluntary and anonymous survey administered between april and may 2005. in addition to personal and professional data, information was collected on knowledge and practice of universal precautions and procedures, obbfe experienced, barriers to following the standards, and whether or not the hepatitis b vaccine had been received. the dependent variable in the analysis was ever having experienced an obbfe accident. results: of the 186 responses analyzed, 77.7% were female, the mean age was 44.6 ± 8.9 years, and the institution was 13.3 ± 6.4 years old. of those surveyed, 91 (48.9%) indicated that at some time they had an obbfe, with 33 (17.7%) of these having occurred during the previous year; 73.0% confirmed that the tools necessary for complying with universal precautions were available always or almost always; 76.2% felt they had complete information, although 56.3% said they had not received adequate training; and, 94.1% claimed to have been vaccinated against hepatitis b. being overworked (54.5%), insufficient training (21.8%), and a lack of protective tools (18.8%) were the reasons most often identified as impeding compliance with universal precaution guidelines. not having received training during the preceding year and having recently started work in a clinical or adult intensive-care unit were significantly associated with having experienced an obbfe. conclusions: these results signal a risk alert for obbfe among health care workers and underscore the need for improving standards and surveillance.
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