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Sample records for con mutaciones hfe

  1. Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco Porphyria cutanea tarda: An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain

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    A. Castiella

    2008-12-01

    Full Text Available Objetivo: estudiar la frecuencia de las mutaciones en el gen HFE (C282Y, H63D, S65C en un grupo de 54 pacientes con porfiria cutánea tarda (PCT y en un grupo de controles sanos (donantes de sangre en Guipúzcoa. También analizar su relación con los virus de la hepatitis B y C (VHB, VHC, alcohol y otros factores de riesgo reconocidos. Métodos: el análisis de las mutaciones se hizo mediante PCR. Se compararon las frecuencias alélicas y genotípicas. Se determinaron la probabilidad y el test de Chi cuadrado. Resultados: no encontramos asociación entre C282Y y PCT (5,76 vs. 5% controles. Se observó una alta frecuencia alélica en la mutación H63D en PCT (34,25%, pero sin ser estadísticamente significativa (controles 29,31%, debido a la alta prevalencia de esta mutación en la población vasca. La mutación S65C fue menor en PCT que en controles. Encontramos una idéntica presencia de H63D en heterocigosis en ambos grupos (38,8 vs. 38,8%. La asociación con el VHC se objetivó en el 35,18% de los pacientes y la infección por VHB en el 7,4%. Un 55,55% de los pacientes tenía un hábito alcohólico de más de 60 g etanol día. Todos eran negativos para el virus de la inmunodeficiencia humana (VIH y 1 de las 5 mujeres con PCT tomaba estrógenos. Conclusión: las mutaciones C282Y y H63D no tienen un papel relevante en los pacientes con PCT en Guipúzcoa. Los factores externos (consumo importante de alcohol y VHC parecen jugar un papel fundamental en el desarrollo de la PCT en nuestra población.Aim: to study the frequency of HFE gene mutations (C282Y, H63D, S65C in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors from Guipúzcoa, Spain. We studied the association of PCT with HCV, HBV, alcohol abuse, and other established risk factors. Methods: the analysis of mutations was made by PCR. Allelic and genotypic frequencies were compared. Probability was determined and a Chi-squared test was performed. Results

  2. Identificación molecular de mutaciones puntuales relacionadas con resistencia a drogas en VIH-1 de pacientes peruanos

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    Carlos Yabar V

    2006-07-01

    Full Text Available Objetivo: Identificar mutaciones puntuales relacionadas con resistencia a drogas en VIH-1 de pacientes peruanos. Materiales y metodos: Se seleccionaron 11 muestras de VIH provenientes de sangre total de sujetos con tratamiento antirretroviral (ARV. Posteriormente se realizo la optimizacion de la amplificacion de 337 pb del gen de la transcriptasa reversa (tr y 377 pb de todo el gen de la proteasa (prt. Los productos de PCR fueron secuenciados directamente para el analisis de mutaciones de resistencia. Las secuencias finales fueron analizadas en programas de analisis de mutaciones de la HIV Drug Resistance Database de la Universidad de Stanford. mutaciones de la HIV Drug Resistance Database de la Universidad de Stanford. Resultados: La optimizacion de la concentracion de ADN (2,5 ng / µL asi como la concentracion de magnesio (4 mM fueron factores criticos para la amplificacion de la tr y la prt respectivamente. De otro lado, el analisis de secuencia revelo la presencia de las mutaciones T215Y y la M184V en tr, implicadas en conferir resistencia a zidovudina (AZT y estavudina (D4T asi como a lamivudina (3TC y emtricitabina (FTC respectivamente. En prt se observaron las mutaciones D30N y N88D implicadas en conferir resistencia a nelfinavir (NFV. Es importante senalar que solo tres muestras de VIH-1 presentaron mutaciones de resistencia, las demas mostraron mutaciones compensatorias. Conclusiones: Se demuestra la existencia de mutaciones de resistencia a ARV a nivel de tr y prt de VIH-1 en sujetos peruanos que reciben terapia TARGA. Se requieren de mayores estudios para establecer un perfil de resistencia a ARV en la poblacion peruana.

  3. Mutaciones del gen de la Hemocromatosis en donantes de sangre voluntarios y en pacientes con Porfiria cutánea tarda en Chile Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients

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    Carlos Wolff F

    2006-10-01

    Full Text Available La acumulación de hierro hepático asociada a mutaciones en el gen HFE de la hemocromatosis hereditaria (HH en los pacientes con porfiria cutánea tarda (PCT podría tener un papel en la etiología y en la expresión clínica de esta enfermedad. Se estudió la frecuencia de las mutaciones H63D y C282Y en un grupo de pacientes con PCT y se la comparó con la observada en un grupo de donantes voluntarios de sangre. Los pacientes con PCT fueron catalogados como portadores de la forma hereditaria o adquirida de la enfermedad, según presentaran o no mutaciones en el gen uroporfirinógeno decarboxilasa (UROD. El 50% de los pacientes con PCT eran portadores de la forma genética de la enfermedad, porcentaje significativamente mayor que lo informado en otras series. El 23% de los donantes voluntarios de sangre eran portadores de la mutación H63D y 2.4% lo era de la mutación C282Y. Frecuencias similares a lo encontrado por otros autores en población chilena de etnia blanca, en población argentina y española, pero significativamente más alta que lo encontrado en estudios en población aborigen araucana. Esto tiene, probablemente, relación con el predominio de ascendencia española en la población blanca chilena. La frecuencia de mutación en el gen HFE en pacientes con PCT no fue significativamente diferente que la observada en donantes voluntarios de sangre. Tampoco hubo diferencias significativas en la frecuencia de estas mutaciones entre los casos con PCT adquirida respecto de aquellos en que ésta era de origen genético. Los resultados obtenidos no permiten afirmar que exista asociación entre la PCT y la condición de portador de mutaciones del gen HFE de la hemocromatosis hereditaria.In patients with porphyria cutanea tarda (PCT, hepatic iron accumulation associated to hereditary hemochromatosis (HH could play a role in the etiology and in the clinical expression of the disease. The H63D and C282Y mutations of the HFE gene frequency were

  4. LA QUIMIOPREVENCIÓN PARA PACIENTES CON MUTACIONES HEREDITARIAS DE PREDISPOSICIÓN AL CÁNCER

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    Dra. Christina Adaniel

    2017-07-01

    Full Text Available Mientras buscamos maneras de prevenir el cáncer, la quimioprevención ha evolucionado como una herramienta para la reducción de riesgo. El uso de drogas u otras substancias que previenen o atrasan el inicio de cáncer en individuos sanos ha sido objeto de intensa investigación durante las últimas dos décadas. Aquellos individuos quienes en teoría deben beneficiarse más incluyen los con mutaciones genéticas germinales que confieren una predisposición al cáncer. Desafortunadamente, este grupo de individuos ha sido sub representado en los estudios clínicos y, por lo tanto, la evidencia para la quimioprevención en este grupo es limitada. Se presenta una revisión de la literatura sobre la quimioprevención primaria para el cáncer de colon, mama, ovario, y próstata en los portadores de mutaciones genéticas hereditarias.

  5. Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial

    OpenAIRE

    López, Greizy; Gelvez, Nancy Yaneth; Urrego, Luisa Fernanda; Florez, Silvia; Medina, David; Rodríguez, Vicente; Tamayo, Marta Lucía

    2014-01-01

    Objetivo: Determinar la presencia de las mutaciones 2299delG y C759F en 37 individuos colombianos no relacionados con asociación de RP e hipoacusia neurosensorial. Materiales y métodos: análisis de secuencia directa del exón 13 del gen USH2A en todos los individuos seleccionados para el estudio. Resultados: la mutación 2299delG fue observada únicamente en individuos con Síndrome de Usher tipo II, mientras que la mutación C759F, no fue observada en ninguno de los individuos del estudio. Obj...

  6. Identificación de mutaciones puntuales del gen de la 21-hidroxilasa en pacientes afectados con hiperplasia suprarrenal congénita.

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    Dora Fonseca

    2005-06-01

    Full Text Available lntroducción. La hiperplasia suprarrenal congénita es un trastorno autosómico recesivo debido a la inadecuada secreción de cortisol. Mas del 95% de los casos de hiperplasia suprarrenal congénita son causados por defectos del gen de la 21 hidroxilasa, CYP21A2 . Las manifestaciones clínicas incluyen la forma clásica y la forma no clásica. Objetivos. Determinar la frecuencia de las mutaciones puntuales P30L, IVS2-12AIC-G, Del 8pb, I172N, cluster Ex 6, V281L, Q318X, R356W y P453S en pacientes con hiperplasia suprarrenal congénita. Materiales y métodos. Se estudiaron 58 pacientes, de los cuales, 48 fueron clásicos y 10 no clásicos. Mediante PCR alelo-especifica y ACRS (Amplified Creation Restriction Sites, se analizaron 9 mutaciones puntuales del gen CYP21A2 y se determinó la frecuencia en la población analizada. Resultados. Los alelos afectados se identificaron en el 82,8% de los cromosomas. Las mutaciones mas frecuentes fueron: IVS2-12AIC-G (26,7%, Q318X (21,5%, V281L (12,1% e I172N (12,1%. Conclusiones. Las mutaciones mas frecuentes en Colombia son similares a las de otros países del mundo, excepto para Q318X que presentó una mayor frecuencia, pero similar a la de otros países latinoamericanos. Este hallazgo y la existencia de 17,2% de alelos no identificados puede indicar diferencia entre el acervo genético de las poblaciones. En la forma clásica perdedora de sal predominaron las mutaciones Q318X e IVS2-12AIC-G; en la virilizante simple, IVS2-12AIC-G e I172N y en la no clásica , V281L, lo cual esta relacionado con el grado de actividad enzimática. En la forma no clásica, se encontraron alelos severos en el 66,7% de los casos, lo que determina el riesgo de tener hijos afectados con la forma grave virilizante simple o perdedora de sal. Los resultados reportados permiten ofrecer asesoramiento genético y diagnóstico prenatal.

  7. Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II

    OpenAIRE

    López, Greizy; Gelvez, Nancy Yaneth; Tamayo, Martalucía

    2011-01-01

    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,...

  8. Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II

    OpenAIRE

    Greizy López; Nancy Yaneth Gelvez; Martalucía Tamayo

    2011-01-01

    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 Ush...

  9. Evaluación antropométrica de pacientes con fibrosis quística asociada a mutaciones genéticas

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    Mirtha Rondón Peña

    2014-08-01

    Full Text Available Se realizó un estudio observacional y descriptivo, de corte transversal, de 19 pacientes con fibrosis quística, atendidos en consultas externas del Hospital Pediátrico Docente Provincial "Hermanos Cordové" en Manzanillo, Granma, durante el semestre de julio-diciembre del 2012, con vistas a identificar el estado nutricional de estos a partir de una evaluación antropométrica -- para lo cual se calculó el índice de Waterlow --, y luego relacionarlo con las mutaciones genéticas. Entre los resultados de la serie sobresalió que 73,7 % de los pacientes poseía peso y talla adecuados para la edad, mientras que 31,5 % fue evaluado como desnutrido. De igual modo, existió relación entre el estado nutricional y la mutación genética, y se concluyó que la mayoría de los afectados presentaba una evaluación nutricional adecuada, como consecuencia de una correcta atención multidisciplinaria

  10. Detección de mutaciones en los genes PAX3 y MITF en pacientes colombianos con Síndrome Waardenburg

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    N. Gélvez

    2001-07-01

    Full Text Available Identificar las mutaciones en los genes PAX3 y MITF, responsables del Síndrome de Waardenburg en Colombia, determinar su frecuencia y establecer la correlación genotipo-fenotipo.

  11. Mutaciones dinámicas

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    Cesar A. Parra

    1994-10-01

    Full Text Available EI descubrimiento de repeticiones amplificadas de trinucleótidos variables en número, en pacientes con distrofia miotónica, síndrome de X-frágil, corea de Huntington y enfermedad de Kennedy, al igual que alteraciones en dinucleótidos del DNA microsatélite en pacientes con carcinoma proximal de colon, ha dado origen al concepto de mutaciones dinámicas. Esto representa una nueva avenida en teoría genética contemporánea que explica fenómenos como lo anticipación y la paradoja de Sherman que se salen del patrón mendeliano clásico.

  12. Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR

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    Aquino, Ruth; Protzel, Ana; Rivera, Juan; Abarca, Hugo; Dueñas, Milagros; Nestarez, Cecilia; Purizaga, Nestor; Diringer, Benoit

    2017-01-01

    Objetivos. Determinar la frecuencia de las diez mutaciones más comúnmente reportadas en América Latina del gen CFTR mediante Sistema de Mutación Refractario a la amplificación por PCR (ARMS-PCR) en los pacientes con fibrosis quística (FQ) de dos instituciones hospitalarias de referencia en el Perú durante el año 2014. Materiales y métodos. Se evaluó la frecuencia de las diez comúnmente reportadas más comúnmente reportadas del gen CFTR en los pacientes del Hospital Nacional Edgardo Rebagliati ...

  13. Mutaciones asociadas con resistencia a rifampicina o isoniazida en aislamientos clínicos de M. tuberculosis de Sonora, México DNA mutations associated to rifampicin or isoniazid resistance in M. tuberculosis clinical isolates from Sonora, Mexico

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    Enrique Bolado-Martínez

    2012-04-01

    Full Text Available OBJETIVO: Realizar el análisis de regiones específicas de genes asociados con resistencia a isoniazida o rifampicina. MATERIAL Y MÉTODOS: Se estudiaron 22 cepas de M. tuberculosis, aisladas en Sonora, México. Se utilizaron iniciadores para regiones específicas de los genes rpoB, katG e inhA y la región ahpC-oxyR. Los productos de PCR se secuenciaron y analizaron. RESULTADOS: Se identificaron mutaciones en la región promotora del gen inhA, región ahpC-oxyR, codón 315 del gen katG y codones 451 ó 456 del gen rpoB. CONCLUSIONES: La identificación de mutaciones no descritas previamente obliga a continuar el análisis genotípico de cepas aisladas en Sonora.OBJECTIVE: To perform the analysis of specific regions of the major genes associated with resistance to isoniazid or rifampin. MATERIALS AND METHODS: Twenty two M. tuberculosis strains, isolated from human samples obtained in Sonora, Mexico. Specific primers for hotspots of the rpoB, katG, inhA genes and the ahpC-oxyR intergenic region were used. The purified PCR products were sequenced. RESULTS: Mutations in the promoter of inhA, the ahpC-oxyR region, and codon 315 of katG and in 451 or 456 codons of rpoB, were identified. CONCLUSIONS: Detection of mutations not previously reported requires further genotypic analysis of Mycobacterium tuberculosis isolates in Sonora.

  14. Mutaciones que seleccionan para resistencia a antirretrovirales y presencia de resistencia en subtipos del VIH-1 diferentes a subtipo B en pacientes con infección crónica sin tratamiento previo

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    Henry Balaguera

    2004-03-01

    Full Text Available

    El desarrollo de la terapia antirretroviral altamente efectiva, la cual inhibe las enzimas virales reversa transcriptasa y proteasa ha transformado dramáticamente la historia natural de la infección por el virus de la inmunodeficiencia humana tipo – 1 (VIH –1 produciendo como resultado una disminución tanto de la morbilidad como de la mortalidad asociada con esta infección (1. La falla para suprimir completamente la replicación viral podría permitir el desarrollo de cambios genotípicos en el VIH-1, los cuales se asocian con la aparicion de la resistencia a cada uno de las tres principales clases de antirretrovirales disponibles (2.

    La prevalencia de resistencia genotípica primaria del VIH-1 subtipo B contra al menos un compuesto antirretroviral es común, entre el 12 % y el 25 % en Estados Unidos (3 y se considera es mayor en pacientes recientemente infectados que en pacientes infectados crónicamente (infección mayor de 6 meses. Sin embargo, existe muy poca información acerca de la prevalencia de resistencia primaria en pacientes con VIH crónicamente infectados y quienes no han estado expuestos a previo tratamiento antirretroviral. Esta resistencia la cual está mediada por mutaciones en el gen de la polimerasa viral (pol, causa disminución de la susceptibilidad de los medicamentos antirretrovirales in vitro y está asociada con falla terapéutica. Una cohorte de pacientes adultos que reciben cuidado médico en un hospital en Boston, fue tamizada para detectar mutaciones en el genoma del VIH-1 y determinar el subtipo de virus circulante de pacientes que nunca habían recibido tratamiento con antirretrovirales (4. Mutaciones asociadas con resistencia a antirretrovirales fue identificada en 18% de 88 pacientes.

    Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens Correlación de las características clínicas con mutaciones del gen CFTR en pacientes argentinos con ausencia bilateral congénita de vasos deferentes

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    Estrella M Levy

    2004-06-01

    ística (FQ. Para el asesoramiento genético se han estudiado en las esposas de estos pacientes, las dos mutaciones más frecuentes en la población FQ del país, DF508 y G542X. Como no se encontraron mutaciones, el riesgo de descendencia CF/CBAVD fue reducido del 2 al 0.7%. Ocho pacientes (23% presentaban test del sudor anormales (> 60 mmol/l. Un segundo grupo de 6 pacientes (18% presentaron valores dudosos (40-59 mmol/l. Hemos definido un tercer grupo de 6 pacientes con valores normales de test del sudor (18%, comprendidos entre los 30 y 39 mmo/l, y un cuarto grupo de 14 pacientes (41% con valores de cloruro en sudor inferiores a 30 mmol/l. La mutación más frecuente en la población CF argentina, DF508, fue encontrada en 15 de los 72 cromosomas (21% analizados, la R117H fue encontrada en 2 de los 62 cromosomas estudiados (3%. Un único alelo R347P fue encontrado en los 28 cromosomas analizados (2%. De los 27 pacientes a los que se les estudió el tracto IVS8, 6/56 cromosomas (11% presentaban el alelo 5T. Si bien estos hallazgos representan un avance en relación a la detección de mutaciones correlacionadas con los síntomas clínicos en la población CBAVD argentina, se debe continuar la búsqueda de otras mutaciones comunes y raras con el fin de establecer una conducta terapéutica en estos pacientes.

  15. Frecuencia de mutaciones en el gen de la usherina (USH2A en 26 individuos colombianos con síndrome de Usher, tipo II

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    Greizy López

    2011-04-01

    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 %.

  16. Identificación de mutaciones y diagnóstico molecular de portadoras en familias mexicanas con distrofia muscular Duchenne/Becker

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    S. Canizales

    2008-01-01

    Discusión o Conclusión: El porcentaje de eliminaciones genéticas en los pacientes estudiados fue menor al reportado en otras poblaciones. Un estudio con un mayor número de individuos permitirá saber sí esta baja frecuencia es característica de nuestra población. El uso de estudios de ligamiento genético y de RT-PCR aumenta la posibilidad de definir el estado portador en mujeres pertenecientes a familias con DMD/BMD y así poder ofrecerles un adecuado consejo genético. Este es el primer trabajo realizado en México, donde se usó el RT-PCR como herramienta diagnóstica en esta distrofia, se identificó por primera vez, a nivel molecular, un paciente con Síndrome de genes continuos y se demostró un empalme alternativo en un paciente con esta miopatía para explicar su fenotipo.

  17. mutaciones e informalidad

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    Philippe Dautrey

    2005-01-01

    Full Text Available Este trabajo analiza la orientación laboral de los recursos humanos en relación con el desarrollo del estado de Morelos a partir de la observación de los movimientos a largo plazo –como la variación de la composición sectorial de la población ocupada y la expansión relativa de la educación–, los cambios en el sistema productivo y la propagación del conocimiento en la producción de bienes y servicios. De lo anterior se desprende que con la expansión de los servicios, los recursos humanos no se orientan lo suficiente hacia actividades formales y competitivas, fenómeno menos acentuado en la zona de Cuernavaca, más desarrollada. Además, al tradicional tránsito de los recursos humanos entre el sector formal e informal se agrega la creciente inestabilidad laboral; esto refuerza la polarización social.

  18. ASPECTOS REPRODUCTIVOS EN MUJERES PORTADORAS DE MUTACIONES GENÉTICAS BRCA

    OpenAIRE

    Dr. Octavio Peralta; Dr. Tulio Rodríguez; Dra. Adela Camus

    2017-01-01

    Se analizan diferentes aspectos reproductivos en mujeres portadoras de mutaciones genéticas BRCA. Se revisa la evidencia científica del riesgo que agrega el uso de anticoncepción hormonal a mujeres con diferentes niveles de riesgo concluyendo que con las formulaciones recientes después del 2010 no hay aumento del riesgo de cáncer de mama. En portadoras de mutaciones BRCA, el uso prolongado antes de los 25 años se asocia a un leve mayor riesgo de diagnóstico temprano de cáncer de mama. Se a...

  19. Clinical follow up of Mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes Estudio de seguimiento clínico de mujeres mexicanas con cáncer de mama de inicio temprano y mutaciones en los genes BRCA1 y BRCA2

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    Ana Laura Calderón-Garcidueñas

    2005-04-01

    Full Text Available OBJECTIVE: This study describes the presence of mutations in BRCA1 and BRCA2 genes in a group of Mexican women and the clinical evolution of early onset breast cancer (EOBC. MATERIAL AND METHODS: A prospective hospital-based study was performed in a sample of 22 women with EOBC (7 in clinical stage IIA, 8 in IIB, and 7 in IIIA. The patients attended a tertiary care hospital in northeastern Mexico in 1997 and were followed up over a 5-year period. Molecular analysis included: 1 a mutation screening by heteroduplex analysis (HA of BRCA1 and BRCA2 genes and 2 a sequence analysis. RESULTS: Of 22 patients, 14 (63.6% showed a variant band detected by heteroduplex analysis of the BRCA1 and BRCA2 genes: 8 polymorphisms, 4 mutations of uncertain significance, and 2 novel truncated protein mutations, one in BRCA1 (exon 11, 3587delT and the other in the BRCA2 gene (exon 11, 2664InsA. CONCLUSIONS: These findings support future studies to determine the significance and impact of the genetic factor in this Mexican women population.OBJETIVO: Describir la presencia de mutaciones en los genes BRCA1 y BRCA2 y la evolución clínica de un grupo de mujeres con carcinoma mamario de inicio temprano (CMIT. MATERIAL Y MÉTODOS: Se realizó un estudio hospitalario, prospectivo, en una muestra de 22 pacientes con CMIT (siete en etapa clínica IIA, ocho en la IIB y siete en etapa IIIA. Las pacientes fueron atendidas en un hospital del noreste de México en 1997 y se realizó un seguimiento clínico durante cinco años. El análisis molecular incluyó: 1 análisis heterodúplex (AH para detectar bandas variantes en la secuencia de ADN de los genes BRCA1 y BRCA2, y 2 análisis de secuenciación. RESULTADOS: De 22 pacientes, 14 (63.6% mostraron banda variante por AH en los genes BRCA1 y BRCA2: ocho polimorfismos, cuatro mutaciones de significado incierto y dos mutaciones noveles con proteína truncada, una en BRCA1 (exón 11, 3587delT y otra en BRCA2 (exón 11, 2664Ins

  1. Estudio de mutaciones en los genes IDH1 e IDH2 en una muestra de gliomas de población colombiana.

    Science.gov (United States)

    Ricaurte, Orlando; Neita, Karina; Valero, Danyela; Ortega-Rojas, Jenny; Arboleda-Bustos, Carlos E; Zubieta, Camilo; Penagos, José; Arboleda, Gonzalo

    2018-05-01

    Introducción. Los gliomas son los tumores primarios más comunes del sistema nervioso central y se clasifican de I a IV según su grado de malignidad. En recientes investigaciones se ha encontrado que su aparición está relacionada con mutaciones en el exón 4 de los genes que codifican las deshidrogenasas de isocitrato 1 y 2 (IDH1: codón 132; IDH2: codón 172).Objetivo. Determinar la frecuencia de mutaciones en los genes IDH1 e IDH2 en una muestra de gliomas de pacientes colombianos.Materiales y métodos. La extracción de ADN se hizo a partir de tejido tumoral. El exón 4 de los genes IDH1 e IDH2 se amplificó mediante PCR utilizando iniciadores específicos y, posteriormente, se secuenciaron. Para la determinación de las mutaciones, se emplearon los programas 4Peaks y MAFFT.Resultados. Se determinó la presencia de mutaciones en el gen IDH1 en el 34 % de las muestras, con predominio de la mutación no sinónima R132H. En el 7,5 % de los casos se detectaron mutaciones en el gen IDH2, principalmente las mutaciones no sinónimas R172K y R172W.Conclusiones. La frecuencia de mutaciones en los genes IDH1 e IDH2 en la muestra fue similar a la reportada en otros estudios. El análisis de estas mutaciones puede ser importante como factor pronóstico y para su uso como potenciales blancos terapéuticos en gliomas.

  2. Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C→T and 1298A→C mutations in patients with inflammatory bowel disease Hiperhomocisteinemia y mutaciones de la metilentetrahidrofolato reductasa 677C→T y 1298A→C en pacientes con enfermedad inflamatoria intestinal

    Directory of Open Access Journals (Sweden)

    C. Fernández-Miranda

    2005-07-01

    Full Text Available Background: hyperhomocysteinemia has been recently described in patients with inflammatory bowel disease (IBD, that could be related to the increased risk for thrombosis that exists in this disease. The aim of this study was the assessment of hyperhomocysteinemia in patients with IBD and its relation among vitamin B12 and folate levels, and methylenetetrahydrofolate reductase (MTHFR 677C→ T and 1298A→C mutations. Patients and methods: fifty two consecutive patients with IBD were studied (29 women and 23 men; age: mean (standard deviation 41.7 [11.9] years and 186 controls with no difference in age and gender. Hyperhomocysteinemia was considered as homocysteine levels higher than mean plus two standard deviations of the control group (≥ 13 μmol/l. Results: patients had an elevated prevalence of hyperhomocysteinemia (17.3 vs. 3.7%; p = 0.002 and lower folate (7.6 [4.1] vs. 8.9 [3.7] ng/ml; p = 0.01 and B12 vitamin levels (499 [287] vs. 603 [231] pg/ml; p = 0.003. Homocysteinemia was higher (14.3 [5.8] vs. 9.1 [3.9] μmol/l; p = 0.006 in 6 patients (11.5% that had suffered thromboembolism. Frequency of MTHFR 677C→T (13.5 vs. 11.3%; p = 0.66 and 1298A→C (7.8 vs. 7.0%; p = 0.76 mutations was not increased in patients. Odds ratio (OR for IBD in hyperhomocysteinemic patient was 5.51, 95% confidence interval (CI, 1.81-16.76; p = 0.002. Hyperhomocysteinemia was negatively associated with feminine gender (OR 0.08, 95% CI 0.01-0.49; p = 0.006 and folate levels (OR 0.04, 95%CI: 0.007-0.20; p Fundamento: recientemente se ha descrito la existencia de hiperhomocisteinemia en la enfermedad inflamatoria intestinal (EII, que podría estar relacionada con el mayor riesgo de trombosis en esta enfermedad. El objetivo del estudio ha sido evaluar la hiperhomocisteinemia en los pacientes con EII y su relación con las concentraciones de vitamina B12 y folato séricos y con las mutaciones de la metilentetrahidrofolato reductasa (MTHFR 677C→T y 1298A

  3. Identificación de mutaciones en el gen para el receptor de andrógenos por medio de la técnica SSCP en pacientes con insensibilidad androgénica completa

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    M. Escaf

    2001-07-01

    Full Text Available El Síndrome de Insensibilidad Androgénica (SIA es causado por defectos del gen para elReceptor de Andrógenos (RA, el síndrome presenta 3 fenotipos: Completa (SIAC, el fenotipoes femenino, Parcial (SIAP donde se puede presentar ambigüedad genital y Mínima (SIAMque se presenta con infertilidad en pacientes con fenotipo masculino.

  4. Uso de la técnica SSCP para detectar mutaciones puntuales del ADN mitocondrial humano

    Directory of Open Access Journals (Sweden)

    Alejandro Estrada-Cuzcano

    2013-05-01

    Full Text Available En el presente trabajo se evalúa la técnica de SSCP (polimorfismo de conformación de cadena individual de ADN para detectar mutaciones puntuales, tanto por su sensibilidad en la detección (alrededor 80% en condiciones ideales, como por su implementación fácil y económica. Se utilizaron como controles positivos y negativos, ADN de voluntarios caracterizados previamente para las mutaciones puntuales de 5 RFLPs mitocondriales. Para la optimización de la prueba fueron ensayadas concentraciones variables del tampón TBE (1X y 0,5X y del glicerol (10%, 5% y 0 en geles de poliacrilamida. Cuatro de los 5 RFLPs fueron detectados en las condiciones utilizadas y pueden ser usados en estudios de rutina sin usar enzimas de restricción. Además, la técnica SSCP permitió determinar mutaciones desconocidas en un segmento de 394 nucleótidos de la región hipervariable (HVI del ADNmt. Diferencias en correspondencia a los distintos haplotipos fueron detectados e incluso permitió discernir grupos dentro del mismo subtipo. La secuenciación de dos muestras del subtipo B1 con migración diferencial en SSCP, corroboró la existencia de siete nucleótidos distintos

  5. Molecular basis of HFE-hemochromatosis

    Directory of Open Access Journals (Sweden)

    Maja eVujic Spasic

    2014-03-01

    Full Text Available Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH. The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-hemochromatosis as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorption from the diet and iron deposition in tissues causing multiple organ damage and failure. This review focuses on the molecular actions of the HFE/Hfe and hepcidin in maintaining systemic iron homeostasis and approaches undertaken so far to combat iron overload in HFE/Hfe-HH. In the light of the recent investigations, novel roles of extra-hepatocytic Hfe are discussed raising a question to the relevance of the multipurpose functions of Hfe for the understanding of HH associated pathologies.

  6. Molecular basis of HFE-hemochromatosis.

    Science.gov (United States)

    Vujić, Maja

    2014-01-01

    Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-HH as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorption from the diet and iron deposition in tissues causing multiple organ damage and failure. This review focuses on the molecular actions of the HFE/Hfe and hepcidin in maintaining systemic iron homeostasis and approaches undertaken so far to combat iron overload in HFE/Hfe-HH. In the light of the recent investigations, novel roles of extra-hepatocytic Hfe are discussed raising a question to the relevance of the multipurpose functions of Hfe for the understanding of HH-associated pathologies.

  7. HFE gene: Structure, function, mutations, and associated iron abnormalities.

    Science.gov (United States)

    Barton, James C; Edwards, Corwin Q; Acton, Ronald T

    2015-12-15

    The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported. Linked to the major histocompatibility complex (MHC) on chromosome 6p, HFE encodes the MHC class I-like protein HFE that binds beta-2 microglobulin. HFE influences iron absorption by modulating the expression of hepcidin, the main controller of iron metabolism. Common HFE mutations account for ~90% of hemochromatosis phenotypes in whites of western European descent. We review HFE mapping and cloning, structure, promoters and controllers, and coding region mutations, HFE protein structure, cell and tissue expression and function, mouse Hfe knockouts and knockins, and HFE mutations in other mammals with iron overload. We describe the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload. Copyright © 2015 Elsevier B.V. All rights reserved.

  8. Molecular basis of HFE-hemochromatosis

    OpenAIRE

    Vujić, Maja

    2014-01-01

    Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-hemochromatosis as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorptio...

  9. Las mutaciones inestables, nuevo reto para el consejo genético de enfermedades hereditarias

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    Patricia Cuenca

    2004-09-01

    Full Text Available Las mutaciones inestables constituyen un tipo de alteración genética descubierta en la década de los noventa. En condiciones normales, regiones específicas de los genes están constituidas por repeticiones de una secuencia corta que puede ser de tres, cuatro, cinco o más nucleótidos; por ejemplo CAG, CGG, ATTCT, etc. Este nuevo tipo de mutación consiste en un aumento en la cantidad de éstas repeticiones, lo que causa una alteración en la expresión de dichos genes. Son inestables porque se ha observado que el tamaño de la secuencia repetida varía cuando las células se dividen por mitosis o meiosis, lo cual tiene implicaciones sobre la herencia y por consiguiente sobre el consejo genético que debe brindarse a los afectados. Estas mutaciones se han encontrado en genes importantes para la función neurológica normal del ser humano, donde pueden alterar el transporte de los ARN desde el núcleo al citoplasma, provocar la inactivación del gen o producir una proteína con funciones nuevas. La mayoría de las enfermedades causadas por estas mutaciones afectan el sistema nervioso, son degenerativas y presentan el fenómeno de anticipación genética, es decir que los afectados dentro de una familia se enfermarán más jóvenes y en forma más severa con el paso de las generaciones. La cantidad de repeticiones de la secuencia repetida presenta una correlación negativa con la edad de manifestación, así como una correlación positiva con la severidad de la enfermedad. En este momento existen veinte padecimientos identificados que son causados exclusivamente por este tipo de mutación. Este trabajo es una breve revisión actualizada del tema.Unstable mutations, new challenges for genetic counseling of inherited disorders. Unstable mutations or amplification of DNA tandem repeats sequences constitute a new kind of genetic alteration discovered in the 90´s that cause hereditary diseases. This mutation has been found inside or near important

  10. HFE and Spherical Cryostats MC Study

    International Nuclear Information System (INIS)

    Brodsky, Jason P.

    2016-01-01

    The copper vessel containing the nEXO TPC is surrounded by a buffer of HFE, a liquid refrigerant with very low levels of radioactive element contamination. The HFE is contained within the cryostat's inner vessel, which is in turn inside the outer vessel. While some HFE may be necessary for stable cooling of nEXO, it is possible that using substantially more than necessary for thermal reasons will help reduce backgrounds originating in the cryostats. Using a larger amount of HFE is accomplished by making the cryostat vessels larger. By itself, increasing the cryostat size somewhat increases the background rate, as the thickness of the cryostat wall must increase at larger sizes. However, the additional space inside the cryostat will be filled with HFE which can absorb gamma rays headed for the TPC. As a result, increasing the HFE reduces the number of backgrounds reaching the TPC. The aim of this study was to determine the relationship between HFE thickness and background rate. Ultimately, this work should support choosing a cryostat and HFE size that satisfies nEXO's background budget. I have attempted to account for every consequence of changing the cryostat size, although naturally this remains a work in progress until a final design is achieved. At the moment, the scope of the study includes only the spherical cryostat design. This study concludes that increasing cryostat size reduces backgrounds, reaching neglible backgrounds originating from the cryostat at the largest sizes. It also shows that backgrounds originating from the inherent radioactivity of the HFE plateau quickly, so may be considered essentially fixed at any quantity of HFE.

  11. Una mirada al albinismo óculo-cutáneo: reporte de mutaciones en el gen TYR en cinco individuos colombianos

    Directory of Open Access Journals (Sweden)

    Diana Sanabria

    2012-06-01

    Full Text Available Introducción. El albinismo óculo-cutáneo es un trastorno hereditario autosómico recesivo relacionado con la pigmentación. Sus manifestaciones clínicas incluyen hipopigmentación en piel, cabello y ojos, hipoplasia en la fóvea y disminución de la agudeza visual. A nivel mundial, hasta el momento, se han reportado, aproximadamente, 230 mutaciones en el gen TYR que causan albinismo óculo-cutáneo de tipo 1. Este gen codifica para la tirosinasa, enzima principal de la biosíntesis de melanina. Objetivos. Identificar las mutaciones en el gen TYR responsables del albinismo óculo-cutáneo de tipo 1 en cinco individuos colombianos; cuatro de ellos pertenecen a una misma familia y el otro individuo es un caso aislado no relacionado con la familia. Asimismo, se pretende evaluar un sistema oftálmico que permite corregir problemas de refracción, y disminuir el nistagmo y la fotofobia en uno de los casos. Materiales y métodos. Se hizo la secuenciación de los cinco exones del gen TYR en los cinco individuos de estudio y se buscaron portadores en la familia. Se llevó a cabo la evaluación clínica oftalmológica y la implementación del sistema correctivo en uno de los pacientes. Resultados. Se encontraron las mutaciones G47D y 1379delTT en la familia, y en el caso aislado, las mutaciones G47D y D42N. Con la implementación del sistema óculo-visual se logró incrementar la agudeza visual y disminuir el nistagmo.Conclusiones. Por ser el primer estudio en albinismo de este carácter en el país, estos resultados marcan una pauta para estudios posteriores de tamización molecular de albinismo en población colombiana.   doi: http://dx.doi.org/10.7705/biomedica.v32i2.638

  12. Mutaciones de la subjetividad en la comunicación digital interactiva. Consideraciones en torno al acontecimiento en los nativos digitales

    Directory of Open Access Journals (Sweden)

    Juan Carlos Amador

    2010-01-01

    Full Text Available El artículo explora algunas consideraciones teóricoconceptuales acerca de las mutaciones de la subjetividad en las infancias contemporáneas, comprendidas como el conjunto de tránsitos, continuidades e irrupciones en las formas de ser y estar en el mundo de estos sujetos, en particular, por medio de la producción de lenguajes, saberes y convergencias culturales que proceden de su vinculación a la comunicación digital interactiva. Para tal efecto, se desarrolla el concepto de comunicación digital interactiva, apoyado en investigadores como Scolari, Igarza, Rueda y Piscitelli; posteriormente, se aborda el núcleo de las mutaciones de la subjetividad y su relación con el advenimiento de sujetos comunicativos e hiperconectados; finalmente, se presentan algunas reflexiones en torno a la condición ontológica de las infancias contemporáneas y su relación con la desestabilización de la infancia moderna y la crisis de las instituciones que pretenden gobernarlas.

  13. HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping

    DEFF Research Database (Denmark)

    Koefoed, P; Dalhoff, K; Dissing, J

    2002-01-01

    Analysis of the common C282Y and H63D mutations in the HFE gene is widely used to diagnose hereditary hemochromatosis (HH). The aim of this study was to evaluate the efficiency with which different hospitals and general practitioners select patients for HH genotype and to determine the distribution...... of HFE mutations in such patients. Nine hundred unrelated patients from Danish hospitals and general practitioners (group A) and 69 consecutive patients from a specialized liver unit (group B) were examined for HFE substitutions using multiplex real-time polymerase chain reaction. In group A we found 13...... in the H63D homozygotes or S65C heterozygotes. Moreover, 7 wild-type patients, 2 C282Y heterozygote patients and one H63D heterozygote patient fulfilled the criteria for HH. The significant enrichment of HH among associated genotype samples submitted for HFE testing indicates that the clinical selection...

  14. HFE gene mutations and iron status of Brazilian blood donors.

    Science.gov (United States)

    Santos, P C J L; Cançado, R D; Terada, C T; Rostelato, S; Gonzales, I; Hirata, R D C; Hirata, M H; Chiattone, C S; Guerra-Shinohara, E M

    2010-01-01

    Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018) and a 83.65% decrease (P = 0.007) in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001) and the HFE 63HD plus DD genotype (55.84%, P = 0.021). In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

  15. HFE gene mutations and iron status of Brazilian blood donors

    Directory of Open Access Journals (Sweden)

    P.C.J.L. Santos

    2010-01-01

    Full Text Available Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542 were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018 and a 83.65% decrease (P = 0.007 in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001 and the HFE 63HD plus DD genotype (55.84%, P = 0.021. In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

  16. HJV and HFE Play Distinct Roles in Regulating Hepcidin.

    Science.gov (United States)

    Wu, Qian; Wang, Hao; An, Peng; Tao, Yunlong; Deng, Jiali; Zhang, Zhuzhen; Shen, Yuanyuan; Chen, Caiyong; Min, Junxia; Wang, Fudi

    2015-05-20

    Hereditary hemochromatosis (HH) is an iron overload disease that is caused by mutations in HFE, HJV, and several other genes. However, whether HFE-HH and HJV-HH share a common pathway via hepcidin regulation is currently unclear. Recently, some HH patients have been reported to carry concurrent mutations in both the HFE and HJV genes. To dissect the roles and molecular mechanisms of HFE and/or HJV in the pathogenesis of HH, we studied Hfe(-/-), Hjv(-/-), and Hfe(-/-)Hjv(-/-) double-knockout mouse models. Hfe(-/-)Hjv(-/-) mice developed iron overload in multiple organs at levels comparable to Hjv(-/-) mice. After an acute delivery of iron, the expression of hepcidin (i.e., Hamp1 mRNA) was increased in the livers of wild-type and Hfe(-/-) mice, but not in either Hjv(-/-) or Hfe(-/-)Hjv(-/-) mice. Furthermore, iron-induced phosphorylation of Smad1/5/8 was not detected in the livers of Hjv(-/-) or Hfe(-/-)Hjv(-/-) mice. We generated and phenotypically characterized Hfe(-/-)Hjv(-/-) double-knockout mice. In addition, because they faithfully phenocopy clinical HH patients, these mouse models are an invaluable tool for mechanistically dissecting how HFE and HJV regulate hepcidin expression. Based on our results, we conclude that HFE may depend on HJV for transferrin-dependent hepcidin regulation. The presence of residual hepcidin in the absence of HFE suggests either the presence of an unknown regulator (e.g., TFR2) that is synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin.

  17. HFE genotype affects exosome phenotype in cancer.

    Science.gov (United States)

    Mrowczynski, Oliver D; Madhankumar, A B; Slagle-Webb, Becky; Lee, Sang Y; Zacharia, Brad E; Connor, James R

    2017-08-01

    Neuroblastoma is the third most common childhood cancer, and timely diagnosis and sensitive therapeutic monitoring remain major challenges. Tumor progression and recurrence is common with little understanding of mechanisms. A major recent focus in cancer biology is the impact of exosomes on metastatic behavior and the tumor microenvironment. Exosomes have been demonstrated to contribute to the oncogenic effect on the surrounding tumor environment and also mediate resistance to therapy. The effect of genotype on exosomal phenotype has not yet been explored. We interrogated exosomes from human neuroblastoma cells that express wild-type or mutant forms of the HFE gene. HFE, one of the most common autosomal recessive polymorphisms in the Caucasian population, originally associated with hemochromatosis, has also been associated with increased tumor burden, therapeutic resistance boost, and negative impact on patient survival. Herein, we demonstrate that changes in genotype cause major differences in the molecular and functional properties of exosomes; specifically, HFE mutant derived exosomes have increased expression of proteins relating to invasion, angiogenesis, and cancer therapeutic resistance. HFE mutant derived exosomes were also shown to transfer this cargo to recipient cells and cause an increased oncogenic functionality in those recipient cells. Copyright © 2017. Published by Elsevier B.V.

  18. Liquid density of HFE-7200 and HFE-7500 from T = (283 to 363) K at pressures up to 100 MPa

    International Nuclear Information System (INIS)

    Fang, Dan; Li, Ying; Meng, Xianyang; Wu, Jiangtao

    2014-01-01

    Highlights: • Liquid densities are reported for HFE-7200 and HFE-7500 at temperatures from (283 to 363) K, pressures up to 100 MPa. • The expanded uncertainty (k = 2) of density measurement for HFE-7200 and HFE-7500 were 0.04% and 0.03%, respectively. • Modified Tait equations were correlated with the experimental data. • The isobaric thermal expansivity and isothermal compressibility of HFE-7200 and HFE-7500 were calculated. -- Abstract: The liquid densities of HFE-7200 (1-ethoxy-1,1,2,2,3,3,4,4,4-nonafluorobutane, CAS Registry Number: 163702-05-4) and HFE-7500 (3-ethoxyperfluoro(2-methylhexane), CAS Registry Number: 297730-93-9) have been measured over the temperature range from (283 to 363) K and pressures up to 100 MPa by using a high pressure vibrating-tube densimeter. R134a has been used as a reference fluid to validate the densimeter. The uncertainty of each obtained datum was estimated, and the maximum expanded uncertainty with a level of confidence of 0.95 (k = 2) of density measurement for HFE-7200 and HFE-7500 were 0.04% and 0.03%, respectively. The measured liquid densities were correlated with the modified Tait equation and the maximum deviation is less than 0.03%. The isothermal compressibility and isobaric thermal expansivity were also calculated

  19. Resistencia a la Hormona Tiroidea en dos familias colombianas. Identificación y caracterización de mutaciones en el receptor beta de la Hormona Tiroidea.

    Directory of Open Access Journals (Sweden)

    Paola Durán

    2013-03-01

    Full Text Available La resistencia a la hormona tiroidea es un desorden genético autosómico dominante que afecta a 1 de cada 40,000 nacidos. Se caracteriza por una respuesta reducida de los tejidos blandos a la hormona tiroidea con incremento de niveles de tiroxina y de triyodotironina, sin inhibición de la hormona tirotropa, como consecuencia de mutaciones presentes en el receptor beta de la hormona tiroidea, particularmente en el dominio de unión a la hormona. El fenotipo clínico varía entre diferentes familias e incluso entre miembros de la misma familia. Generalmente, los individuos con Resistencia a la Hormona Tiroidea pueden presentarla de una manera variable en diferentes tejidos, debido a síntomas heterogéneos de hipotiroidismo e hipertiroidismo. Los síntomas más comunes son bocio, taquicardia, déficit de atención, alteraciones auditivas y retraso en el crecimiento óseo. Pacientes y Métodos. En este estudio se caracterizaron clínica y molecularmente dos familias colombianas con Resistencia a la Hormona Tiroidea mediante análisis clínicos y genéticos, utilizando la reacción en cadena de la polimerasa y secuenciación del gen del receptor beta de la tiroxina (TRβ. Resultados. Se identificó una nueva mutación no sinónima en el exón 8 del gen TRβ, la cual lleva al cambio de una valina por una leucina en el codón 264 (V264L. También, se identificó una mutación de novo en el exón 10 del gen TRβ que consiste en una deleción de una citosina en el nucleótido 1609 que lleva a un cambio en el marco de lectura y finalmente a un codón de parada en la posición 442 (1609delC. Conclusiones. En Colombia, no existen mutaciones reportadas hasta el momento asociadas a Resistencia a la Hormona Tiroidea. Es de resaltar que las mutaciones encontradas en Colombia son únicas de nuestro país, lo cual debe tenerse en cuenta para una correcta asesoría genética.

  20. HFE gene mutations in coronary atherothrombotic disease

    Directory of Open Access Journals (Sweden)

    Calado R.T.

    2000-01-01

    Full Text Available Although iron can catalyze the production of free radicals involved in LDL lipid peroxidation, the contribution of iron overload to atherosclerosis remains controversial. The description of two mutations in the HFE gene (Cys282Tyr and His63Asp related to hereditary hemochromatosis provides an opportunity to address the question of the association between iron overload and atherosclerosis. We investigated the prevalence of HFE mutations in 160 survivors of myocardial infarction with angiographically demonstrated severe coronary atherosclerotic disease, and in 160 age-, gender- and race-matched healthy control subjects. PCR amplification of genomic DNA followed by RsaI and BclI restriction enzyme digestion was used to determine the genotypes. The frequency of the mutant Cys282Tyr allele was identical among patients and controls (0.022; carrier frequency, 4.4%, whereas the mutant His63Asp allele had a frequency of 0.143 (carrier frequency, 27.5% in controls and of 0.134 (carrier frequency, 24.5% in patients. Compound heterozygotes were found in 2 of 160 (1.2% controls and in 1 of 160 (0.6% patients. The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the HFE gene among controls and patients with coronary atherothrombotic disease, indirectly questions the possibility of an association between hereditary hemochromatosis and atherosclerosis.

  1. ENVIRONMENTAL RESEARCH BRIEF: THERMOPHYSICAL PROPERTIES OF HFE-125

    Science.gov (United States)

    Thermophysical properties of HFE-125 (pentafluorodimethylether) suggest that it could serve as an alternative non-ozone depleting refrigerant for certain low temperature applications. This Brief presents the thermophysical properties of HFE-125 (Tables 1-4) which have been obtai...

  2. ASSOCIATION OF HFE GENE MUTATION IN THALASSEMIA MAJOR PATIENTS

    Directory of Open Access Journals (Sweden)

    Amit Kumar Tiwari

    2016-11-01

    Full Text Available BACKGROUND Thalassemia major patients are dependent on frequent blood transfusion and consequently develop iron overload. HFE gene mutations (C282Y, H63D and S65C in hereditary haemochromatosis has been shown to be associated with iron overload. The study aims at finding the association of HFE gene mutations in β-thalassemia major patients. MATERIALS AND METHODS A descriptive observational pilot study was conducted including fifty diagnosed -thalassemia major cases. DNA analysis by PCR-RFLP method for HFE gene mutations was performed. RESULTS Only H63D mutation (out of three HFE gene mutations was detected in 8 out of 50 cases. Observed frequency of H63D mutation was 16%. While frequency of C282Y and S65C were 0% each. CONCLUSION The frequency of HFE mutation in -thalassemia major is not very common.

  3. Caracterización clínica, bioquímica y de neuroimagen de la enfermedad de Parkinson asociada a mutaciones del gen LRRK2 y de su fase prodrómica

    OpenAIRE

    Vilas Rolán, Dolores

    2016-01-01

    La presente memoria se basa en cuatro trabajos que pertenecen a una misma línea de estudio: el estudio de la enfermedad de Parkinson asociada a mutaciones del gen LRRK2 (EP-LRRK2) . En primer lugar, se ha estudiado la EP-LRRK2 desde un punto de vista clínico, centrándonos en los síntomas no motores. En segundo lugar se ha realizado un estudio a través de la sonografía transcraneal en portadores de la mutación G2019S del gen LRRK2 , tanto pacientes con enfermedad de Parkinson como portadores a...

  4. ASPECTOS REPRODUCTIVOS EN MUJERES PORTADORAS DE MUTACIONES GENÉTICAS BRCA

    Directory of Open Access Journals (Sweden)

    Dr. Octavio Peralta

    2017-07-01

    Se analizan las diferentes estrategias para preservación de la fertilidad en mujeres jóvenes portadoras de mutaciones BRCA, la reserva ovária, efecto de la quimioterapia sobre la reserva ovárica, criopreservación embrionaria y de oocitos, criopreservación de tejido ovárico, supresión ovárica y el estudio genético preimplantacional. Se concluye que las mujeres portadoras de mutaciones deben derivarse en forma oportuna a un equipo multidisciplinario de preservación de fertilidad para consejería reproductiva precoz por el alto riesgo de cáncer mamario sumado al uso de quimioterapia gonadotóxica. Las portadoras de mutaciones BRCA1 parecen tener menor reserva ovárica que las no portadoras. Los métodos de preservación de fertilidad más utilizados son la estimulación controlada de la ovulación y la criopreservación de embriones y oocitos.

  5. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

    Science.gov (United States)

    Bittencourt, Paulo Lisboa; Marin, Maria Lúcia Carnevale; Couto, Cláudia Alves; Cançado, Eduardo Luiz Rachid; Carrilho, Flair José; Goldberg, Anna Carla

    2009-01-01

    Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1 (SCL40A1). To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. Nineteen male subjects (median age 42 [range: 20-72] years) with HH were evaluated using the Haemochromatosis StripAssay A. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. In our cohort, nine (47%) patients were homozygous for the C282Y mutation, two (11%) were heterozygous for the H63D mutation, and one each (5%) was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil.

  6. HFE gene mutations and Wilson's disease in Sardinia.

    Science.gov (United States)

    Sorbello, Orazio; Sini, Margherita; Civolani, Alberto; Demelia, Luigi

    2010-03-01

    Hypocaeruloplasminaemia can lead to tissue iron storage in Wilson's disease and the possibility of iron overload in long-term overtreated patients should be considered. The HFE gene encodes a protein that is intimately involved in intestinal iron absorption. The aim of this study was to determine the prevalence of the HFE gene mutation, its role in iron metabolism of Wilson's disease patients and the interplay of therapy in copper and iron homeostasis. The records of 32 patients with Wilson's disease were reviewed for iron and copper indices, HFE gene mutations and liver biopsy. Twenty-six patients were negative for HFE gene mutations and did not present significant alterations of iron metabolism. The HFE mutation was significantly associated with increased hepatic iron content (PHFE gene wild-type. The HFE gene mutations may be an addictional factor in iron overload in Wilson's disease. Our results showed that an adjustment of dosage of drugs could prevent further iron overload induced by overtreatment only in patients HFE wild-type. 2009. Published by Elsevier Ltd.

  7. HFE gene variants affect iron in the brain.

    Science.gov (United States)

    Nandar, Wint; Connor, James R

    2011-04-01

    Iron accumulation in the brain and increased oxidative stress are consistent observations in many neurodegenerative diseases. Thus, we have begun examination into gene mutations or allelic variants that could be associated with loss of iron homeostasis. One of the mechanisms leading to iron overload is a mutation in the HFE gene, which is involved in iron metabolism. The 2 most common HFE gene variants are C282Y (1.9%) and H63D (8.9%). The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autosomal recessive disorder, characterized by iron overload in a number of systemic organs. The H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the neurodegenerative diseases has received more attention. At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases. Therefore, the HFE gene variants are proposed to be genetic modifiers or a risk factor for neurodegenerative diseases by establishing an enabling milieu for pathogenic agents. This review will discuss the current knowledge of the association of the HFE gene variants with neurodegenerative diseases: amyotrophic lateral sclerosis, Alzheimer's disease, Parkinson's disease, and ischemic stroke. Importantly, the data herein also begin to dispel the long-held view that the brain is protected from iron accumulation associated with the HFE mutations.

  8. Germline TP53 mutations and single nucleotide polymorphisms in children Mutaciones y polimorfismos de un único nucleótido del gen TP53 en línea germinal en niños

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    Pamela Valva

    2009-02-01

    Full Text Available Mutations in the gene TP53, which codifies the tumor suppressor protein p53, are found in about 50% of tumors. These mutations can occur not only at somatic level, but also in germline. Pediatric cancer patients, mostly with additional family history of malignancy, should be considered as potential TP53 germline mutation carriers. Germline TP53 mutations and polymorphisms have been widely studied to determine their relation with different tumors' pathogenesis. Our aim was to analyze the occurrence frequency of germline TP53 mutations and polymorphisms and to relate these to tumor development in a pediatric series. Peripheral blood mononuclear cell samples from 26 children with solid tumors [PST] and 21 pediatric healthy donors [HD] were analyzed for germline mutations and polymorphisms in TP53 gene spanning from exon 5 to 8 including introns 5 and 7. These PCR amplified fragments were sequenced to determine variations. A heterozygous mutation at codon 245 was found in 1/26 PST and 0/21 HD. Comparative polymorphisms distribution, at position 14181 and 14201(intron 7, between HD and PST revealed a trend of association (p= 0.07 with cancer risk. HD group disclosed a similar polymorphism distribution as published data for Caucasian and Central/South American populations. This is the first study about TP53 variant frequency and distribution in healthy individuals and cancer patients in Argentina.El gen que codifica para la proteína supresora de tumor p53 (TP53 se encuentra mutado en aproximadamente el 50% de los tumores. Estas mutaciones pueden presentarse como somáticas o en línea germinal. Los niños con tumores, sobre todo aquellos con historia familiar de enfermedad oncológica, deben considerarse potenciales portadores de mutaciones en línea germinal. Las mutaciones de TP53 y los polimorfismos son estudiados para determinar su relación con la patogénesis de diferentes tumores. El objetivo del trabajo fue analizar la frecuencia de

  9. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis

    Directory of Open Access Journals (Sweden)

    Paulo Lisboa Bittencourt

    2009-01-01

    Full Text Available BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2 and ferroportin 1 (SCL40A1. AIMS: To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. PATIENTS AND METHODS: Nineteen male subjects (median age 42 [range: 20-72] years with HH were evaluated using the Haemochromatosis StripAssay A®. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. RESULTS: In our cohort, nine (47% patients were homozygous for the C282Y mutation, two (11% were heterozygous for the H63D mutation, and one each (5% was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. CONCLUSIONS: One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil.

  10. PREDICTION OF THE SPECTROSCOPIC PARAMETERS OF NEW IRON COMPOUNDS: HYDRIDE OF IRON CYANIDE/ISOCYANIDE, HFeCN/HFeNC

    Energy Technology Data Exchange (ETDEWEB)

    Redondo, Pilar; Barrientos, Carmen; Largo, Antonio, E-mail: predondo@qf.uva.es [Departamento de Química Física y Química Inorgánica Facultad de Ciencias, Universidad de Valladolid Campus Miguel Delibes Paseo de Belén 7, E-47011, Valladolid (Spain)

    2016-09-01

    Iron is the most abundant transition metal in space. Its abundance is similar to that of magnesium, and until today only, FeO and FeCN have been detected. However, magnesium-bearing compounds such as MgCN, MgNC, and HMgNC are found in IRC+10216. It seems that the hydrides of iron cyanide/isocyanide could be good candidates to be present in space. In the present work we carried out a characterization of the different minima on the quintet and triplet [C, Fe, H, N] potential energy surfaces, employing several theoretical approaches. The most stable isomers are predicted to be hydride of iron cyanide HFeCN, and isocyanide HFeNC, in their {sup 5}Δ states. Both isomers are found to be quasi-isoenergetics. The HFeNC isomer is predicted to lie about 0.5 kcal/mol below HFeCN. The barrier for the interconversion process is estimated to be around 6.0 kcal/mol, making this process unfeasible under low temperature conditions, such as those in the interstellar medium. Therefore, both HFeCN and HFeNC could be candidates for their detection. We report geometrical parameters, vibrational frequencies, and rotational constants that could help with their experimental characterization.

  11. PREDICTION OF THE SPECTROSCOPIC PARAMETERS OF NEW IRON COMPOUNDS: HYDRIDE OF IRON CYANIDE/ISOCYANIDE, HFeCN/HFeNC

    International Nuclear Information System (INIS)

    Redondo, Pilar; Barrientos, Carmen; Largo, Antonio

    2016-01-01

    Iron is the most abundant transition metal in space. Its abundance is similar to that of magnesium, and until today only, FeO and FeCN have been detected. However, magnesium-bearing compounds such as MgCN, MgNC, and HMgNC are found in IRC+10216. It seems that the hydrides of iron cyanide/isocyanide could be good candidates to be present in space. In the present work we carried out a characterization of the different minima on the quintet and triplet [C, Fe, H, N] potential energy surfaces, employing several theoretical approaches. The most stable isomers are predicted to be hydride of iron cyanide HFeCN, and isocyanide HFeNC, in their 5 Δ states. Both isomers are found to be quasi-isoenergetics. The HFeNC isomer is predicted to lie about 0.5 kcal/mol below HFeCN. The barrier for the interconversion process is estimated to be around 6.0 kcal/mol, making this process unfeasible under low temperature conditions, such as those in the interstellar medium. Therefore, both HFeCN and HFeNC could be candidates for their detection. We report geometrical parameters, vibrational frequencies, and rotational constants that could help with their experimental characterization.

  12. Mutaciones puntuales en los genes dhfr y dhps de Plasmodium falciparum de tres regiones endémicas

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    John Alexander Galindo

    2010-03-01

    Conclusiones. En las poblaciones de P. falciparum analizadas prevalecen los alelos asparagina 108, isoleucina 51 y glicina 437, lo que indica un efecto acumulativo de mutaciones y la necesidad de vigilar la aparición de nuevos alelos mutantes que puedan conducir a la pérdida total de la eficacia de la sulfadoxina-pirimetamina.

  13. Meta-analyses of HFE variants in coronary heart disease.

    Science.gov (United States)

    Lian, Jiangfang; Xu, Limin; Huang, Yi; Le, Yanping; Jiang, Danjie; Yang, Xi; Xu, Weifeng; Huang, Xiaoyan; Dong, Changzheng; Ye, Meng; Zhou, Jianqing; Duan, Shiwei

    2013-09-15

    HFE gene variants can cause hereditary hemochromatosis (HH) that often comes along with an increased risk of coronary heart disease (CHD). The goal of our study is to assess the contribution of four HFE gene variants to the risk of CHD. We conducted four meta-analyses of the studies examining the association between four HFE gene variants and the risk of CHD. A systematic search was conducted using MEDLINE, EMBASE, Web of Science and China National Knowledge Infrastructure (CNKI), Wanfang Chinese Periodical. Meta-analyses showed that HFE rs1799945-G allele was associated with a 6% increased risk of CHD (P=0.02, odds ratio (OR)=1.06, 95% confidence interval (CI)=1.01-1.11). However, no association between the other three HFE gene variants (rs1800562, rs1800730, and rs9366637) and CHD risk was observed by the meta-analyses (all P values>0.05). In addition, the results of our case-control study indicated that rs1800562 and rs1800730 were monomorphic, and that rs1799945 and rs9366637 were not associated with CHD in Han Chinese. Our meta-analysis suggested that a significant association existed between rs1799945 mutation and CHD, although this mutation was rare in Han Chinese. Copyright © 2013 Elsevier B.V. All rights reserved.

  14. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

    Science.gov (United States)

    Aguilar-Martinez, Patricia; Grandchamp, Bernard; Cunat, Séverine; Cadet, Estelle; Blanc, François; Nourrit, Marlène; Lassoued, Kaiss; Schved, Jean-François; Rochette, Jacques

    2011-04-01

    Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6. We performed molecular investigation of the genes implicated in hereditary hemochromatosis in six patients who presented with iron overload but were simple heterozygotes for the HFE C282Y mutation at first genetic testing. Functional impairment of new variants was deduced from computational methods including molecular modeling studies. We identified four rare HFE mutant alleles, three of which have not been previously described. One mutation is a 13-nucleotide deletion in exon 6 (c.1022_1034del13, p.His341_Ala345 > LeufsX119), which is predicted to lead to an elongated and unstable protein. The second one is a substitution of the last nucleotide of exon 2 (c.340G > A, p.Glu114Lys) which modifies the relative solvent accessibility in a loop interface. The third mutation, p.Arg67Cys, also lies in exon 2 and introduces a destabilization of the secondary structure within a loop of the α1 domain. We also found the previously reported c.548T > C (p.Leu183Pro) missense mutation in exon 3. No other known iron genes were mutated. We present an algorithm at the clinical and genetic levels for identifying patients deserving further investigation. Conclusions Our results suggest that additional mutations in HFE may have a clinical impact in C282Y carriers. In conjunction with results from previously described cases we conclude that an elevated transferrin saturation level and elevated hepatic iron index should indicate the utility of searching for further HFE mutations in C282Y heterozygotes prior to other iron gene studies.

  15. Loss of hfe function reverses impaired recognition memory caused by olfactory manganese exposure in mice.

    Science.gov (United States)

    Ye, Qi; Kim, Jonghan

    2015-03-01

    Excessive manganese (Mn) in the brain promotes a variety of abnormal behaviors, including memory deficits, decreased motor skills and psychotic behavior resembling Parkinson's disease. Hereditary hemochromatosis (HH) is a prevalent genetic iron overload disorder worldwide. Dysfunction in HFE gene is the major cause of HH. Our previous study has demonstrated that olfactory Mn uptake is altered by HFE deficiency, suggesting that loss of HFE function could alter manganese-associated neurotoxicity. To test this hypothesis, Hfe-knockout (Hfe (-/-)) and wild-type (Hfe (+/+)) mice mice were intranasally-instilled with manganese chloride (MnCl2 5 mg/kg) or water daily for 3 weeks and examined for memory function. Olfactory Mn diminished both short-term recognition and spatial memory in Hfe (+/+) mice, as examined by novel object recognition task and Barnes maze test, respectively. Interestingly, Hfe (-/-) mice did not show impaired recognition memory caused by Mn exposure, suggesting a potential protective effect of Hfe deficiency against Mn-induced memory deficits. Since many of the neurotoxic effects of manganese are thought to result from increased oxidative stress, we quantified activities of anti-oxidant enzymes in the prefrontal cortex (PFC). Mn instillation decreased superoxide dismutase 1 (SOD1) activity in Hfe (+/+) mice, but not in Hfe (-/-) mice. In addition, Hfe deficiency up-regulated SOD1 and glutathione peroxidase activities. These results suggest a beneficial role of Hfe deficiency in attenuating Mn-induced oxidative stress in the PFC. Furthermore, Mn exposure reduced nicotinic acetylcholine receptor levels in the PFC, indicating that blunted acetylcholine signaling could contribute to impaired memory associated with intranasal manganese. Together, our model suggests that disrupted cholinergic system in the brain is involved in airborne Mn-induced memory deficits and loss of HFE function could in part prevent memory loss via a potential up-regulation of

  16. Intragenic haplotype analysis of common HFE mutations in the ...

    Indian Academy of Sciences (India)

    mutation <100 generations ago in the Celtic populations of mainland Europe, with a ... 0.9–5.8%, evidencing regional differences in distribution across the ..... and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a ...

  17. Detección de mutaciones de los genes hMLH1 y hMSH2 del sistema de reparación de malos apareamientos del ADN en familias colombianas sospechosas de cancer colorrectal no polipósico hereditario (síndrome de Lynch.

    Directory of Open Access Journals (Sweden)

    Andrea Gómez

    2005-09-01

    Full Text Available Introducción. El cáncer colorrectal es la segunda causa de morbilidad y mortalidad por cáncer en los países desarrollados. En Colombia es la quinta causa de muerte entre los diferentes cánceres. Cerca del 75% de éstos corresponde a cánceres esporádicos, alrededor del 25% son familiares, y son claramente hereditarios el 5%. De éstos, el más importantes es el cáncer colorrectal no polipósico hereditario o síndrome de Lynch. Objetivo. Analizar los dos genes más importantes involucrados en el síndrome de Lynch, el hMLH1 y el hMSH2. Materiales y métodos. En 17 familias colombianas que cumplían con los criterios de Ámsterdam II o las pautas de Bethesda, se analizaron por SSCP los 35 exones de estos dos genes y las variantes electroforéticas se secuenciaron. Resultados. Se detectaron 8 mutaciones de línea germinal en las familias analizadas, 7 en el gen hMLH1 y 1 en hMSH2, y se encontró una tasa de detección de mutaciones del 47%. Seis de las 8 mutaciones encontradas en este estudio han sido previamente reportadas en la literatura. Un cambio de una base en el sitio donador de empalme en el exón 9 del gen hMLH1 (G>A (dos familias, un cambio A>G en el codón 755 del exón 17, y un cambio G>A en el exón 18. Se detectaron dos nuevas mutaciones, una en el exón 17, un cambio C>T en el codón 640, y una deleción de TG en el codón 184 del exón 3 del gen hMSH2. También se detectó en dos familias un polimorfismo del intrón 13 del hMLH1. Conclusión. Este es el primer estudio realizado en Colombia que detecta mutaciones en el síndrome de Lynch y pretende establecer un programa integral de manejo y prevención.

  18. Hemochromatosis (HFE gene mutations in Brazilian chronic hemodialysis patients

    Directory of Open Access Journals (Sweden)

    F.V. Perícole

    2005-09-01

    Full Text Available Patients with chronic renal insufficiency (CRI have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the association of hemochromatosis with treatment for anemia among patients with CRI has not been well described. We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individuals with CRI undergoing hemodialysis. The analysis of the effects of HFE mutations on iron metabolism and anemia with biochemical parameters was possible in 118 patients of this study (hemoglobin, hematocrit, ferritin levels, transferrin saturation, and serum iron. A C282Y heterozygous mutation was found in 7/201 (3.4% and H63D homozygous and heterozygous mutation were found in 2/201 (1.0% and 46/201 (22.9%, respectively. The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation did not differ between patients with CRI and healthy controls. Regarding the biochemical parameters, no differences were observed between HFE heterozygous and mutation-negative patients, although ferritin levels were not higher among patients with the H63D mutation (P = 0.08. From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anemia or iron stores in CRI patients receiving intravenous iron supplementation (P > 0.10. Nevertheless, the present data suggest that the H63D mutation may have an important function as a modulating factor of iron overload in these patients.

  19. The role of HFE genotype in macrophage phenotype.

    Science.gov (United States)

    Nixon, Anne M; Neely, Elizabeth; Simpson, Ian A; Connor, James R

    2018-02-01

    Iron regulation is essential for cellular energy production. Loss of cellular iron homeostasis has critical implications for both normal function and disease progression. The H63D variant of the HFE gene is the most common gene variant in Caucasians. The resulting mutant protein alters cellular iron homeostasis and is associated with a number of neurological diseases and cancer. In the brain, microglial and infiltrating macrophages are critical to maintaining iron homeostasis and modulating inflammation associated with the pathogenic process in multiple diseases. This study addresses whether HFE genotype affects macrophage function and the implications of these findings for disease processes. Bone marrow macrophages were isolated from wildtype and H67D HFE knock-in mice. The H67D gene variant in mice is the human equivalent of the H63D variant. Upon differentiation, the macrophages were used to analyze iron regulatory proteins, cellular iron release, migration, phagocytosis, and cytokine expression. The results of this study demonstrate that the H67D HFE genotype significantly impacts a number of critical macrophage functions. Specifically, fundamental activities such as proliferation in response to iron exposure, L-ferritin expression in response to iron loading, secretion of BMP6 and cytokines, and migration and phagocytic activity were all found to be impacted by genotype. Furthermore, we demonstrated that exposure to apo-Tf (iron-poor transferrin) can increase the release of iron from macrophages. In normal conditions, 70% of circulating transferrin is unsaturated. Therefore, the ability of apo-Tf to induce iron release could be a major regulatory mechanism for iron release from macrophages. These studies demonstrate that the HFE genotype impacts fundamental components of macrophage phenotype that could alter their role in degenerative and reparative processes in neurodegenerative disorders.

  20. CONCEPTOS SOBRE GENÉTICA HUMANA PARA LA COMPRENSIÓN E INTERPRETACIÓN DE LAS MUTACIONES EN CÁNCER Y OTRAS PATOLOGÍAS HEREDITARIAS

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    Dra. Pilar Carvallo

    2017-07-01

    Full Text Available El avance del conocimiento en la genética humana en los últimos 20 años ha sido vertiginoso y el impacto que ha tenido en la salud humana es muy relevante. Por esta razón la revisión y el conocimiento de conceptos genéticos, desde la herencia Mendeliana aplicada a la genética humana hasta las enfermedades complejas, como el cáncer y su modo de herencia, resulta imprescindible para profesionales del área de la salud. El mejor conocimiento de los genes involucrados en el inicio y la progresión del tumor, así como el tipo de herencia del cáncer y el efecto que tiene la penetrancia incompleta en el fenotipo, deben estar presentes a la hora de hacer un buen diagnóstico en cada paciente. De la misma forma, a nivel molecular es necesario saber interpretar el efect o que pueden tener las diversas variantes de la secuencia de un gen, así como el significado de variantes modificadoras del riesgo. Finalmente es importante considerar al cáncer como una patología hereditaria ya sea causada por mutaciones en un gen principal o como una enfermedad compleja causada por variantes en más de un gen y factores no genéticos. En este manuscrito se revisan todos estos conceptos con el fin de entregar una visión básica para la comprensión de las patologías con un importante componente genético.

  1. Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.

    Science.gov (United States)

    McDonald, Cameron J; Wallace, Daniel F; Crawford, Darrell H G; Subramaniam, V Nathan

    2013-07-01

    Hereditary hemochromatosis (HH) is a widely recognized and well-studied condition in European populations. This is largely due to the high prevalence of the C282Y mutation of HFE. Although less common than in Europe, HH cases have been reported in the Asia-Pacific region because of mutations in both HFE and non-HFE genes. Mutations in all of the currently known genes implicated in non-HFE HH (hemojuvelin, hepcidin, transferrin receptor 2, and ferroportin) have been reported in patients from the Asia-Pacific region. This review discusses the molecular basis of HH and the genes and mutations known to cause non-HFE HH with particular reference to the Asia-Pacific region. Challenges in the genetic diagnosis of non-HFE HH are also discussed and how new technologies such as next generation sequencing may be informative in the future. © 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.

  2. Differential HFE gene expression is regulated by alternative splicing in human tissues.

    Science.gov (United States)

    Martins, Rute; Silva, Bruno; Proença, Daniela; Faustino, Paula

    2011-03-03

    The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain. Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. The aim of this study was to gain insights into the physiological significance of these alternative HFE variants. Alternatively spliced HFE transcripts in diverse human tissues were identified by RT-PCR, cloning and sequencing. Total HFE transcripts, as well as two alternative splicing transcripts were quantified using a real-time PCR methodology. Intracellular localization, trafficking and protein association of GFP-tagged HFE protein variants were analysed in transiently transfected HepG2 cells by immunoprecipitation and immunofluorescence assays. Alternatively spliced HFE transcripts present both level- and tissue-specificity. Concerning the exon 2 skipping and intron 4 inclusion transcripts, the liver presents the lowest relative level, while duodenum presents one of the highest amounts. The protein resulting from exon 2 skipping transcript is unable to associate with β2M and TfR1 and reveals an ER retention. Conversely, the intron 4 inclusion transcript gives rise to a truncated, soluble protein (sHFE) that is mostly secreted by cells to the medium in association with β2M. HFE gene post-transcriptional regulation is clearly affected by a tissue-dependent alternative splicing mechanism. Among the corresponding proteins, a sHFE isoform stands out, which upon being secreted into the bloodstream, may act in remote tissues. It could be either an agonist or antagonist of the full length HFE, through hepcidin expression regulation in the liver or by controlling dietary iron absorption in the duodenum.

  3. Contribution of Hfe expression in macrophages to the regulation of hepatic hepcidin levels and iron loading

    OpenAIRE

    Makui, Hortence; Soares, Ricardo J.; Jiang, Wenlei; Constante, Marco; Santos, Manuela M.

    2005-01-01

    Hereditary hemochromatosis (HH), an iron overload disease associated with mutations in the HFE gene, is characterized by increased intestinal iron absorption and consequent deposition of excess iron, primarily in the liver. Patients with HH and Hfe-deficient (Hfe−/−) mice manifest inappropriate expression of the iron absorption regulator hepcidin, a peptide hormone produced by the liver in response to iron loading. In this study, we investigated the contribution of Hfe expression in macrophag...

  4. Differential HFE gene expression is regulated by alternative splicing in human tissues.

    Directory of Open Access Journals (Sweden)

    Rute Martins

    Full Text Available BACKGROUND: The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain. Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. The aim of this study was to gain insights into the physiological significance of these alternative HFE variants. METHODOLOGY/PRINCIPAL FINDINGS: Alternatively spliced HFE transcripts in diverse human tissues were identified by RT-PCR, cloning and sequencing. Total HFE transcripts, as well as two alternative splicing transcripts were quantified using a real-time PCR methodology. Intracellular localization, trafficking and protein association of GFP-tagged HFE protein variants were analysed in transiently transfected HepG2 cells by immunoprecipitation and immunofluorescence assays. Alternatively spliced HFE transcripts present both level- and tissue-specificity. Concerning the exon 2 skipping and intron 4 inclusion transcripts, the liver presents the lowest relative level, while duodenum presents one of the highest amounts. The protein resulting from exon 2 skipping transcript is unable to associate with β2M and TfR1 and reveals an ER retention. Conversely, the intron 4 inclusion transcript gives rise to a truncated, soluble protein (sHFE that is mostly secreted by cells to the medium in association with β2M. CONCLUSIONS/SIGNIFICANCE: HFE gene post-transcriptional regulation is clearly affected by a tissue-dependent alternative splicing mechanism. Among the corresponding proteins, a sHFE isoform stands out, which upon being secreted into the bloodstream, may act in remote tissues. It could be either an agonist or antagonist of the full length HFE, through hepcidin expression regulation in the liver or by controlling dietary iron absorption in the duodenum.

  5. HFE polymorphisms influence the response to chemotherapeutic agents via induction of p16INK4A.

    Science.gov (United States)

    Lee, Sang Y; Liu, Siying; Mitchell, Ryan M; Slagle-Webb, Becky; Hong, Young-Soo; Sheehan, Jonas M; Connor, James R

    2011-11-01

    HFE is a protein that impacts cellular iron uptake. HFE gene variants are identified as risk factors or modifiers for multiple diseases. Using HFE stably transfected human neuroblastoma cells, we found that cells carrying the C282Y HFE variant do not differentiate when exposed to retinoic acid. Therefore, we hypothesized HFE variants would impact response to therapeutic agents. Both the human neuroblastoma and glioma cells that express the C282Y HFE variant are resistant to Temodar, geldanamycin and γ-radiation. A gene array analysis revealed that p16INK4A (p16) expression was increased in association with C282Y expression. Decreasing p16 protein by siRNA resulted in increased vulnerability to all of the therapeutic agents suggesting that p16 is responsible for the resistance. Decreasing HFE expression by siRNA resulted in a 85% decrease in p16 expression in the neuroblastoma cells but not the astrocytoma cells. These data suggest a potential direct relationship between HFE and p16 that may be cell specific or mediated by different pathways in the different cell types. In conclusion, the C282Y HFE variant impacts the vulnerability of cancer cells to current treatment strategies apparently by increasing expression of p16. Although best known as a tumor suppressor, there are multiple reports that p16 is elevated in some forms of cancer. Given the frequency of the HFE gene variants, as high as 10% of the Caucasian population, these data provide compelling evidence that the C282Y HFE variant should be part of a pharmacogenetic strategy for evaluating treatment efficacy in cancer cells. Copyright © 2011 UICC.

  6. Effect of Hfe Deficiency on Memory Capacity and Motor Coordination after Manganese Exposure by Drinking Water in Mice.

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    Alsulimani, Helal Hussain; Ye, Qi; Kim, Jonghan

    2015-12-01

    Excess manganese (Mn) is neurotoxic. Increased manganese stores in the brain are associated with a number of behavioral problems, including motor dysfunction, memory loss and psychiatric disorders. We previously showed that the transport and neurotoxicity of manganese after intranasal instillation of the metal are altered in Hfe-deficient mice, a mouse model of the iron overload disorder hereditary hemochromatosis (HH). However, it is not fully understood whether loss of Hfe function modifies Mn neurotoxicity after ingestion. To investigate the role of Hfe in oral Mn toxicity, we exposed Hfe-knockout (Hfe (-/-)) and their control wild-type (Hfe (+/+)) mice to MnCl2 in drinking water (5 mg/mL) for 5 weeks. Motor coordination and spatial memory capacity were determined by the rotarod test and the Barnes maze test, respectively. Brain and liver metal levels were analyzed by inductively coupled plasma mass spectrometry. Compared with the water-drinking group, mice drinking Mn significantly increased Mn concentrations in the liver and brain of both genotypes. Mn exposure decreased iron levels in the liver, but not in the brain. Neither Mn nor Hfe deficiency altered tissue concentrations of copper or zinc. The rotarod test showed that Mn exposure decreased motor skills in Hfe (+/+) mice, but not in Hfe (-/-) mice (p = 0.023). In the Barns maze test, latency to find the target hole was not altered in Mn-exposed Hfe (+/+) compared with water-drinking Hfe (+/+) mice. However, Mn-exposed Hfe (-/-) mice spent more time to find the target hole than Mn-drinking Hfe (+/+) mice (p = 0.028). These data indicate that loss of Hfe function impairs spatial memory upon Mn exposure in drinking water. Our results suggest that individuals with hemochromatosis could be more vulnerable to memory deficits induced by Mn ingestion from our environment. The pathophysiological role of HFE in manganese neurotoxicity should be carefully examined in patients with HFE-associated hemochromatosis and

  7. Study of the effect of HFE gene mutations on iron overload in ...

    African Journals Online (AJOL)

    Background: HFE gene mutations have been shown to be responsible for hereditary hemochromatosis. Their effect on iron load in β-thalassemia patients and carriers remains controversial. Objectives: We aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in β-thalassemia patients and carriers ...

  8. Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis

    DEFF Research Database (Denmark)

    Møller, Daniel Vega; Pecini, Redi; Gustafsson, Finn

    2010-01-01

    It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role...... and the prognostic significance of HFE genotypes....

  9. Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.

    Science.gov (United States)

    Schmidt, Paul J; Fleming, Mark D

    2012-06-01

    Hereditary hemochomatosis (HH) is caused by mutations in several genes, including HFE and transferrin receptor-2 (TFR2). Loss of either protein decreases expression of the iron regulatory hormone hepcidin by the liver, leading to inappropriately high iron uptake from the diet, and resulting in systemic iron overload. In tissue culture, overexpressed HFE and TFR2 physically interact. Hepatocellular overexpression of Hfe in vivo increases hepcidin expression, despite an associated decrease in Tfr2. On this basis, we hypothesized that Tfr2 would not be required for Hfe-dependent up-regulation of hepcidin. We show that hepatocellular overexpression of Hfe in Tfr2(Y245X/Y245X) mice leads to hepcidin induction eventuating in iron deficiency and a hypochromic, microcytic anemia. Furthermore, coimmunoprecipitation studies using liver lysates did not provide evidence for physical interaction between Hfe and Tfr2 in vivo. In conclusion, we demonstrate that Tfr2 is not essential for Hfe-mediated induction of hepcidin expression, supporting the possibility that TFR2 may regulate iron metabolism in an HFE-independent manner. Copyright © 2012 Wiley Periodicals, Inc.

  10. HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Sangiuolo, Federica; Puxeddu, Ermanno; Pezzuto, Gabriella; Cavalli, Francesco; Longo, Giuliana; Comandini, Alessia; Di Pierro, Donato; Pallante, Marco; Sergiacomi, Gianluigi; Simonetti, Giovanni; Zompatori, Maurizio; Orlandi, Augusto; Magrini, Andrea; Amicosante, Massimo; Mariani, Francesca; Losi, Monica; Fraboni, Daniela; Bisetti, Alberto; Saltini, Cesare

    2015-02-01

    In idiopathic pulmonary fibrosis (IPF), lung accumulation of excessive extracellular iron and macrophage haemosiderin may suggest disordered iron homeostasis leading to recurring microscopic injury and fibrosing damage. The current study population comprised 89 consistent IPF patients and 107 controls. 54 patients and 11 controls underwent bronchoalveolar lavage (BAL). Haemosiderin was assessed by Perls' stain, BAL fluid malondialdehyde (MDA) by high-performance liquid chromatography, BAL cell iron-dependent oxygen radical generation by fluorimetry and the frequency of hereditary haemochromatosis HFE gene variants by reverse dot blot hybridisation. Macrophage haemosiderin, BAL fluid MDA and BAL cell unstimulated iron-dependent oxygen radical generation were all significantly increased above controls (pHFE allelic variants was markedly higher in IPF compared with controls (40.4% versus 22.4%, OR 2.35, p=0.008) and was associated with higher iron-dependent oxygen radical generation (HFE variant 107.4±56.0, HFE wild type (wt) 59.4±36.4 and controls 16.7±11.8 fluorescence units per 10(5) BAL cells; p=0.028 HFE variant versus HFE wt, p=0.006 HFE wt versus controls). The data suggest iron dysregulation associated with HFE allelic variants may play an important role in increasing susceptibility to environmental exposures, leading to recurring injury and fibrosis in IPF. Copyright ©ERS 2015.

  11. HFE Genotyping in Patients with Elevated Serum Iron Indices and Liver Diseases

    Directory of Open Access Journals (Sweden)

    Andreia Silva Evangelista

    2015-01-01

    Full Text Available Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS > 45%, and serum ferritin (SF > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n=16 were the HFE hereditary hemochromatosis (HFE-HH group; and C282Y and H63D single heterozygotes, the H63D/H63D genotype, and wild-type were considered group 2 (n=92. Nonalcoholic liver disease, alcoholism, and chronic hepatitis C were detected more frequently in group 2, whereas arthropathy, hepatocarcinoma, diabetes, and osteoporosis rates were significantly higher in the HFE-HH group. TS > 82%, SF > 2685 ng/mL, and serum iron > 178 μg/dL were the cutoffs for diagnosis of HFE-HH in patients with liver disease. Thus, in non-Caucasian populations with chronic liver disease, HFE-HH diagnosis is more predictable in those with iron levels higher than those proposed in current guidelines for the general population.

  12. Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.

    Science.gov (United States)

    Wang, Yongwei; Du, Yali; Liu, Gang; Guo, Shanshan; Hou, Bo; Jiang, Xianyong; Han, Bing; Chang, Yanzhong; Nie, Guangjun

    2017-04-01

    Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. However, there have been only a few detailed reports of HH in Chinese populations. Thus, there is insufficient patient information for population-based analyses in Chinese populations or comparative studies among different ethical groups. In the current work, we describe eight Chinese cases of hereditary hemochromatosis. Gene sequencing results revealed eight mutations (five novel mutations) in HFE, HFE2, TfR2, and SLC40A1 genes in these Chinese HH patients. In addition, we used Polymorphism Phenotyping v2 (Polyphen), Sorting Intolerant From Tolerant (SIFT), and a sequence alignment program to predict the molecular consequences of missense mutations.

  13. HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?

    Science.gov (United States)

    Santos, Paulo C J L; Pereira, Alexandre C; Cançado, Rodolfo D; Schettert, Isolmar T; Sobreira, Tiago J P; Oliveira, Paulo S L; Hirata, Rosario D C; Hirata, Mario H; Figueiredo, Maria Stella; Chiattone, Carlos S; Krieger, Jose E; Guerra-Shinohara, Elvira M

    2010-12-15

    Rare HFE variants have been shown to be associated with hereditary hemochromatosis (HH), an iron overload disease. The low frequency of the HFE p.C282Y mutation in HH-affected Brazilian patients may suggest that other HFE-related mutations may also be implicated in the pathogenesis of HH in this population. The main aim was to screen for new HFE mutations in Brazilian individuals with primary iron overload and to investigate their relationship with HH. Fifty Brazilian patients with primary iron overload (transferrin saturation>50% in females and 60% in males) were selected. Subsequent bidirectional sequencing for each HFE exon was performed. The effect of HFE mutations on protein structure were analyzed by molecular dynamics simulation and free binding energy calculations. p.C282Y in homozygosis or in heterozygosis with p.H63D were the most frequent genotypic combinations associated with HH in our sample population (present in 17 individuals, 34%). Thirty-six (72.0%) out of the 50 individuals presented at least one HFE mutation. The most frequent genotype associated with HH was the homozygous p.C282Y mutation (n=11, 22.0%). One novel mutation (p.V256I) was indentified in heterozygosis with the p.H63D mutation. In silico modeling analysis of protein behavior indicated that the p.V256I mutation does not reduce the binding affinity between HFE and β2-microglobulin (β2M) in the same way the p.C282Y mutation does compared with the native HFE protein. In conclusion, screening of HFE through direct sequencing, as compared to p.C282Y/p.H63D genotyping, was not able to increase the molecular diagnosis yield of HH. The novel p.V256I mutation could not be implicated in the molecular basis of the HH phenotype, although its role cannot be completely excluded in HH-phenotype development. Our molecular modeling analysis can help in the analysis of novel, previously undescribed, HFE mutations. Copyright © 2010 Elsevier Inc. All rights reserved.

  14. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda.

    Science.gov (United States)

    Stölzel, Ulrich; Köstler, Erich; Schuppan, Detlef; Richter, Matthias; Wollina, Uwe; Doss, Manfred O; Wittekind, Christian; Tannapfel, Andrea

    2003-03-01

    To examine the role of hemochromatosis (HFE) gene mutations, which are associated with porphyria cutanea tarda (PCT), in the therapeutic response to chloroquine. We retrospectively analyzed a database (Excel version 2001 [Microsoft Excel, Redmond, Wash]; date range of search, 1985-1999) of chloroquine-treated patients with PCT on whether HFE mutations (C282Y and H63D) might have influenced the clinical response, urinary porphyrin excretion, liver enzyme activities, and serum iron markers. Serum samples and corresponding complete sets of data before and after therapy were available in 62 of 207 patients with PCT who were treated exclusively with chloroquine. Academic teaching hospital. For treatment, low-dose chloroquine diphosphate, 125 to 250 mg twice weekly, was used during a median time of 16 months (range, 12-26 months). Of the 62 German patients with PCT, 37 (60%) carries HFE mutations. Chloroquine therapy was accompanied by clinical remission and reduced urinary porphyrin excretion (P<.001) in the 24 patients (39%) with HFE wild type as well as in 35 HFE heterozygous patients with PCT (56%). Decreases of serum iron markers following chloroquine therapy were limited to patients with PCT and HFE wild type. All patients homozygous for the C282Y mutation (3 [5%] of 62) had high serum iron, ferritin, and transferrin saturation and failed to respond to chloroquine treatment. The therapeutic response to chloroquine was not compromised by C282Y heterozygosity and compound heterozygosity of HFE mutations. Because HFE C282Y homozygotes (+/+) did not respond to chloroquine and a decrease in serum iron concentration was limited to patients with PCT and HFE wild type, phlebotomy should be first-line therapy in patients with PCT and HFE mutations.

  15. Influence of HFE variants and cellular iron on monocyte chemoattractant protein-1

    Directory of Open Access Journals (Sweden)

    Simmons Zachary

    2009-02-01

    Full Text Available Abstract Background Polymorphisms in the MHC class 1-like gene known as HFE have been proposed as genetic modifiers of neurodegenerative diseases that include neuroinflammation as part of the disease process. Variants of HFE are relatively common in the general population and are most commonly associated with iron overload, but can promote subclinical cellular iron loading even in the absence of clinically identified disease. The effects of the variants as well as the resulting cellular iron dyshomeostasis potentially impact a number of disease-associated pathways. We tested the hypothesis that the two most common HFE variants, H63D and C282Y, would affect cellular secretion of cytokines and trophic factors. Methods We screened a panel of cytokines and trophic factors using a multiplexed immunoassay in human neuroblastoma SH-SY5Y cells expressing different variants of HFE. The influence of cellular iron secretion on the potent chemokine monocyte chemoattractant protein-1 (MCP-1 was assessed using ferric ammonium citrate and the iron chelator, desferroxamine. Additionally, an antioxidant, Trolox, and an anti-inflammatory, minocycline, were tested for their effects on MCP-1 secretion in the presence of HFE variants. Results Expression of the HFE variants altered the labile iron pool in SH-SY5Y cells. Of the panel of cytokines and trophic factors analyzed, only the release of MCP-1 was affected by the HFE variants. We further examined the relationship between iron and MCP-1 and found MCP-1 secretion tightly associated with intracellular iron status. A potential direct effect of HFE is considered because, despite having similar levels of intracellular iron, the association between HFE genotype and MCP-1 expression was different for the H63D and C282Y HFE variants. Moreover, HFE genotype was a factor in the effect of minocycline, a multifaceted antibiotic used in treating a number of neurologic conditions associated with inflammation, on MCP-1

  16. HFE mRNA expression is responsive to intracellular and extracellular iron loading: short communication.

    Science.gov (United States)

    Mehta, Kosha J; Farnaud, Sebastien; Patel, Vinood B

    2017-10-01

    In liver hepatocytes, the HFE gene regulates cellular and systemic iron homeostasis by modulating cellular iron-uptake and producing the iron-hormone hepcidin in response to systemic iron elevation. However, the mechanism of iron-sensing in hepatocytes remain enigmatic. Therefore, to study the effect of iron on HFE and hepcidin (HAMP) expressions under distinct extracellular and intracellular iron-loading, we examined the effect of holotransferrin treatment (1, 2, 5 and 8 g/L for 6 h) on intracellular iron levels, and mRNA expressions of HFE and HAMP in wild-type HepG2 and previously characterized iron-loaded recombinant-TfR1 HepG2 cells. Gene expression was analyzed by real-time PCR and intracellular iron was measured by ferrozine assay. Data showed that in the wild-type cells, where intracellular iron content remained unchanged, HFE expression remained unaltered at low holotransferrin treatments but was upregulated upon 5 g/L (p HFE and HAMP expressions were elevated only at low 1 g/L treatment (p HFE (p HFE mRNA was independently elevated by extracellular and intracellular iron-excess. Thus, it may be involved in sensing both, extracellular and intracellular iron. Repression of HAMP expression under simultaneous intracellular and extracellular iron-loading resembles non-hereditary iron-excess pathologies.

  17. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice

    Science.gov (United States)

    Whittlesey, Rebecca L.; Andrews, Nancy C.

    2011-01-01

    The hereditary hemochromatosis protein HFE promotes the expression of hepcidin, a circulating hormone produced by the liver that inhibits dietary iron absorption and macrophage iron release. HFE mutations are associated with impaired hepatic bone morphogenetic protein (BMP)/SMAD signaling for hepcidin production. TMPRSS6, a transmembrane serine protease mutated in iron-refractory iron deficiency anemia, inhibits hepcidin expression by dampening BMP/SMAD signaling. In the present study, we used genetic approaches in mice to examine the relationship between Hfe and Tmprss6 in the regulation of systemic iron homeostasis. Heterozygous loss of Tmprss6 in Hfe−/− mice reduced systemic iron overload, whereas homozygous loss caused systemic iron deficiency and elevated hepatic expression of hepcidin and other Bmp/Smad target genes. In contrast, neither genetic loss of Hfe nor hepatic Hfe overexpression modulated the hepcidin elevation and systemic iron deficiency of Tmprss6−/− mice. These results indicate that genetic loss of Tmprss6 increases Bmp/Smad signaling in an Hfe-independent manner that can restore Bmp/Smad signaling in Hfe−/− mice. Furthermore, these results suggest that natural genetic variation in the human ortholog TMPRSS6 might modify the clinical penetrance of HFE-associated hereditary hemochromatosis, raising the possibility that pharmacologic inhibition of TMPRSS6 could attenuate iron loading in this disorder. PMID:21355094

  18. The impact of H63D HFE gene carriage on hemoglobin and iron status in children.

    Science.gov (United States)

    Barbara, Kaczorowska-Hac; Marcin, Luszczyk; Jedrzej, Antosiewicz; Wieslaw, Ziolkowski; Elzbieta, Adamkiewicz-Drozynska; Malgorzata, Mysliwiec; Ewa, Milosz; Jacek, Kaczor Jan

    2016-12-01

    The molecular mechanism that regulates iron homeostasis is based on a network of signals, which reflect on the iron requirements of the body. Hereditary hemochromatosis is a heterogenic metabolic syndrome which is due to unchecked transfer of iron into the bloodstream and its toxic effects on parenchymatous organs. It is caused by the mutation of genes that encode proteins that help hepcidin to monitor serum iron. These proteins include the human hemochromatosis protein -HFE, transferrin-receptor 2, hemojuvelin in rare instances, and ferroportin. HFE-related hemochromatosis is the most frequent form of the disease. Interestingly, the low penetrance of polymorphic HFE genes results in rare clinical presentation of the disease, predominantly in middle-aged males. Taking into account the wide dispersion of HFE mutation in our population and also its unknown role in heterozygotes, we analyzed the impact of H63D HFE carriage in the developmental age, with respect to gender, on the iron status and hemoglobin concentration of carriers in comparison to those of wild-type HFE gene (12.7 ± 3.07 years, 42 boys and 41 girls). H63D carriers presented higher blood iron, transferrin saturation, and ferritin concentration than wild-type probands (p HFE heterozygotes.

  19. C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cells.

    Science.gov (United States)

    Ali-Rahmani, Fatima; Huang, Michael A; Schengrund, C-L; Connor, James R; Lee, Sang Y

    2014-01-01

    Although disruptions in the maintenance of iron and cholesterol metabolism have been implicated in several cancers, the association between variants in the HFE gene that is associated with cellular iron uptake and cholesterol metabolism has not been studied. The C282Y-HFE variant is a risk factor for different cancers, is known to affect sphingolipid metabolism, and to result in increased cellular iron uptake. The effect of this variant on cholesterol metabolism and its possible relevance to cancer phenotype was investigated using wild type (WT) and C282Y-HFE transfected human neuroblastoma SH-SY5Y cells. Expression of C282Y-HFE in SH-SY5Y cells resulted in a significant increase in total cholesterol as well as increased transcription of a number of genes involved in its metabolism compared to cells expressing WT-HFE. The marked increase in expression of NPC1L1 relative to that of most other genes, was accompanied by a significant increase in expression of NPC1, a protein that functions in cholesterol uptake by cells. Because inhibitors of cholesterol metabolism have been proposed to be beneficial for treating certain cancers, their effect on the viability of C282Y-HFE neuroblastoma cells was ascertained. C282Y-HFE cells were significantly more sensitive than WT-HFE cells to U18666A, an inhibitor of desmosterol Δ24-reductase the enzyme catalyzing the last step in cholesterol biosynthesis. This was not seen for simvastatin, ezetimibe, or a sphingosine kinase inhibitor. These studies indicate that cancers presenting in carriers of the C282Y-HFE allele might be responsive to treatment designed to selectively reduce cholesterol content in their tumor cells.

  20. Pathophysiological consequences and benefits of HFE mutations: 20 years of research

    Science.gov (United States)

    Hollerer, Ina; Bachmann, André; Muckenthaler, Martina U.

    2017-01-01

    Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation causes a clinically relevant phenotype only in a minority of cases. In this review, we summarize historical facts and recent research findings about hereditary hemochromatosis, and outline the pathological consequences of the associated gene defects. In addition, we discuss potential advantages of HFE mutations in asymptomatic carriers. PMID:28280078

  1. Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data.

    Science.gov (United States)

    Lee, Sang Y; Zhu, Junjia; Salzberg, Anna C; Zhang, Bo; Liu, Dajiang J; Muscat, Joshua E; Langan, Sara T; Connor, James R

    2017-01-01

    Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE gene on the cancer development and progression has not been systematically studied. To expand our finding in a larger sample, and to identify other HFE SNV, we analyzed the frequency of somatic SNV in HFE gene and its relationship to survival in GBM patients using The Cancer Genome Atlas (TCGA) GBM (Caucasian only) database. We found 9 SNVs with increased frequency in blood normal of TCGA GBM patients compared to the 1000Genome. Among 9 SNVs, 7 SNVs were located in the intron and 2 SNVs (i.e., H63D, C282Y) in the exon of HFE gene. The statistical analysis demonstrated that blood normal samples of TCGA GBM have more H63D (p = 0.0002, 95% Confidence interval (CI): 0.2119-0.3223) or C282Y (p = 0.0129, 95% CI: 0.0474-0.1159) HFE polymorphisms than 1000Genome. The Kaplan-Meier survival curve for the 264 GBM samples revealed no difference between wild type (WT) HFE and H63D, and WT HFE and C282Y GBM patients. In addition, there was no difference in the survival of male/female GBM patients based on HFE genotype. There was no correlation between HFE expression and survival. In conclusion, the current results suggest that somatic HFE polymorphisms do not impact GBM patients' survival in the TCGA data set of GBM.

  2. Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data.

    Directory of Open Access Journals (Sweden)

    Sang Y Lee

    Full Text Available Human hemochromatosis protein (HFE is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM. However, the effect of other single nucleotide variation (SNV in the HFE gene on the cancer development and progression has not been systematically studied. To expand our finding in a larger sample, and to identify other HFE SNV, we analyzed the frequency of somatic SNV in HFE gene and its relationship to survival in GBM patients using The Cancer Genome Atlas (TCGA GBM (Caucasian only database. We found 9 SNVs with increased frequency in blood normal of TCGA GBM patients compared to the 1000Genome. Among 9 SNVs, 7 SNVs were located in the intron and 2 SNVs (i.e., H63D, C282Y in the exon of HFE gene. The statistical analysis demonstrated that blood normal samples of TCGA GBM have more H63D (p = 0.0002, 95% Confidence interval (CI: 0.2119-0.3223 or C282Y (p = 0.0129, 95% CI: 0.0474-0.1159 HFE polymorphisms than 1000Genome. The Kaplan-Meier survival curve for the 264 GBM samples revealed no difference between wild type (WT HFE and H63D, and WT HFE and C282Y GBM patients. In addition, there was no difference in the survival of male/female GBM patients based on HFE genotype. There was no correlation between HFE expression and survival. In conclusion, the current results suggest that somatic HFE polymorphisms do not impact GBM patients' survival in the TCGA data set of GBM.

  3. Mutaciones culturales de Chiloé: los mitos y las leyendas en la modernidad neoliberal isleña

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    Sergio Mansilla Torres

    2009-01-01

    Full Text Available El conflicto entre tradición y modernidad cultural de las islas de Chiloé, Chile, agudizado a partir de la década de 1980 cuando Chiloé se convierte en un centro de producción acuícola para la exportación a gran escala, re vive, en los umbrales del siglo XXI, el mito fundacional de las islas: Ten-ten Vilú, la serpiente de la tierra que defiende a los humanos, y Cai-cai Vilú, la serpiente del agua que quiere exterminarlos. Chiloé se halla en una etapa si no refundacional sí de profundas mutaciones de su identidad, etapa en la que, nuevamente, como en los orígenes mitológicos, se enfrentan fuerzas, al parecer irreconciliables, que tensionan el modo de ser, de habitar y de soñar de los chilotes.

  4. HFE gene mutation is a risk factor for tissue iron accumulation in hemodialysis patients.

    Science.gov (United States)

    Turkmen, Ercan; Yildirim, Tolga; Yilmaz, Rahmi; Hazirolan, Tuncay; Eldem, Gonca; Yilmaz, Engin; Aybal Kutlugun, Aysun; Altindal, Mahmut; Altun, Bulent

    2017-07-01

    HFE gene mutations are responsible from iron overload in general population. Studies in hemodialysis patients investigated the effect of presence of HFE gene mutations on serum ferritin and transferrin saturation (TSAT) with conflicting results. However effect of HFE mutations on iron overload in hemodialysis patients was not previously extensively studied. 36 hemodialysis patients (age 51.3 ± 15.6, (18/18) male/female) and 44 healthy control subjects included in this cross sectional study. Hemoglobin, ferritin, TSAT in the preceding 2 years were recorded. Iron and erythropoietin (EPO) administered during this period were calculated. Iron accumulation in heart and liver was detected by MRI. Relationship between HFE gene mutation, hemoglobin, iron parameters and EPO doses, and tissue iron accumulation were determined. Iron overload was detected in nine (25%) patients. Hemoglobin, iron parameters, weekly EPO doses, and monthly iron doses of patients with and without iron overload were similar. There was no difference between control group and hemodialysis patients with respect to the prevalence of HFE gene mutations. Iron overload was detected in five of eight patients who had HFE gene mutations, but iron overload was present in 4 of 28 patients who had no mutations (P = 0.01). Hemoglobin, iron parameters, erythropoietin, and iron doses were similar in patients with and without gene mutations. HFE gene mutations remained the main determinant of iron overload after multivariate logistic regression analysis (P = 0.02; OR, 11.6). Serum iron parameters were not adequate to detect iron overload and HFE gene mutation was found to be an important risk factor for iron accumulation. © 2017 International Society for Hemodialysis.

  5. Human Factors Engineering (HFE) insights for advanced reactors based upon operating experience

    International Nuclear Information System (INIS)

    Higgins, J.; Nasta, K.

    1997-01-01

    The NRC Human Factors Engineering Program Review Model (HFE PRM, NUREG-0711) was developed to support a design process review for advanced reactor design certification under 10CFR52. The HFE PRM defines ten fundamental elements of a human factors engineering program. An Operating Experience Review (OER) is one of these elements. The main purpose of an OER is to identify potential safety issues from operating plant experience and ensure that they are addressed in a new design. Broad-based experience reviews have typically been performed in the past by reactor designers. For the HFE PRM the intent is to have a more focussed OER that concentrates on HFE issues or experience that would be relevant to the human-system interface (HSI) design process for new advanced reactors. This document provides a detailed list of HFE-relevant operating experience pertinent to the HSI design process for advanced nuclear power plants. This document is intended to be used by NRC reviewers as part of the HFE PRM review process in determining the completeness of an OER performed by an applicant for advanced reactor design certification. 49 refs

  6. HFE H63D mutation frequency shows an increase in Turkish women with breast cancer

    Directory of Open Access Journals (Sweden)

    Guler Emine

    2006-02-01

    Full Text Available Abstract Background The hereditary hemochromatosis gene HFE plays a pivotal role in iron homeostasis. The association between cancer and HFE hetero- or homozygosity has previously been shown including hepatocellular and nonhepatocellular malignancies. This study was performed to compare frequencies of HFE C282Y and H63D variants in Turkish women with breast cancer and healthy controls. Methods Archived DNA samples of Hacettepe University Oncology Institute were used in this study. The HFE gene was investigated by PCR-RFLP. Results All subjects studied were free from C282Y mutation. Thirty-nine patients had H63D mutation and were all heterozygous. H63D allele frequency was 22.2% (39/176 in the breast cancer patients, and 14% (28/200 in the healthy volunteers. Statistical analysis of cases with HFE H63D phenotype showed significant difference between breast cancer and healthy volunteers (P = 0.02. Conclusion Our results suggest that HFE H63D mutation frequencies were increased in the breast cancer patients in comparison to those in the general population. Also, odds ratios (odds ratio = 2.05 computed in this study suggest that H63D has a positive association with breast cancer.

  7. Global transcriptional response to Hfe deficiency and dietary iron overload in mouse liver and duodenum.

    Directory of Open Access Journals (Sweden)

    Alejandra Rodriguez

    2009-09-01

    Full Text Available Iron is an essential trace element whose absorption is usually tightly regulated in the duodenum. HFE-related hereditary hemochromatosis (HH is characterized by abnormally low expression of the iron-regulatory hormone, hepcidin, which results in increased iron absorption. The liver is crucial for iron homeostasis as it is the main production site of hepcidin. The aim of this study was to explore and compare the genome-wide transcriptome response to Hfe deficiency and dietary iron overload in murine liver and duodenum. Illumina arrays containing over 47,000 probes were used to study global transcriptional changes. Quantitative RT-PCR (Q-RT-PCR was used to validate the microarray results. In the liver, the expression of 151 genes was altered in Hfe(-/- mice while dietary iron overload changed the expression of 218 genes. There were 173 and 108 differentially expressed genes in the duodenum of Hfe(-/- mice and mice with dietary iron overload, respectively. There was 93.5% concordance between the results obtained by microarray analysis and Q-RT-PCR. Overexpression of genes for acute phase reactants in the liver and a strong induction of digestive enzyme genes in the duodenum were characteristic of the Hfe-deficient genotype. In contrast, dietary iron overload caused a more pronounced change of gene expression responsive to oxidative stress. In conclusion, Hfe deficiency caused a previously unrecognized increase in gene expression of hepatic acute phase proteins and duodenal digestive enzymes.

  8. Iron overload and HFE gene mutations in Czech patients with chronic liver diseases.

    Science.gov (United States)

    Dostalikova-Cimburova, Marketa; Kratka, Karolina; Stransky, Jaroslav; Putova, Ivana; Cieslarova, Blanka; Horak, Jiri

    2012-01-01

    The aim of the study was to identify the prevalence of HFE gene mutations in Czech patients with chronic liver diseases and the influence of the mutations on iron status. The presence of HFE gene mutations (C282Y, H63D, and S65C) analyzed by the PCR-RFLP method, presence of cirrhosis, and serum iron indices were compared among 454 patients with different chronic liver diseases (51 with chronic hepatitis B, 122 with chronic hepatitis C, 218 with alcoholic liver disease, and 63 patients with hemochromatosis). Chronic liver diseases patients other than hemochromatics did not have an increased frequency of HFE gene mutations compared to controls. Although 33.3% of patients with hepatitis B, 43% of patients with hepatitis C, and 73.2% of patients with alcoholic liver disease had elevated transferrin saturation or serum ferritin levels, the presence of HFE gene mutations was not significantly associated with iron overload in these patients. Additionally, patients with cirrhosis did not have frequencies of HFE mutations different from those without cirrhosis. This study emphasizes the importance, not only of C282Y, but also of the H63D homozygous genetic constellation in Czech hemochromatosis patients. Our findings show that increased iron indices are common in chronic liver diseases but {\\it HFE} mutations do not play an important role in the pathogenesis of chronic hepatitis B, chronic hepatitis C, and alcoholic liver disease.

  9. Spent nuclear fuel project, Cold Vacuum Drying Facility human factors engineering (HFE) analysis: Results and findings

    International Nuclear Information System (INIS)

    Garvin, L.J.

    1998-01-01

    This report presents the background, methodology, and findings of a human factors engineering (HFE) analysis performed in May, 1998, of the Spent Nuclear Fuels (SNF) Project Cold Vacuum Drying Facility (CVDF), to support its Preliminary Safety Analysis Report (PSAR), in responding to the requirements of Department of Energy (DOE) Order 5480.23 (DOE 1992a) and drafted to DOE-STD-3009-94 format. This HFE analysis focused on general environment, physical and computer workstations, and handling devices involved in or directly supporting the technical operations of the facility. This report makes no attempt to interpret or evaluate the safety significance of the HFE analysis findings. The HFE findings presented in this report, along with the results of the CVDF PSAR Chapter 3, Hazards and Accident Analyses, provide the technical basis for preparing the CVDF PSAR Chapter 13, Human Factors Engineering, including interpretation and disposition of findings. The findings presented in this report allow the PSAR Chapter 13 to fully respond to HFE requirements established in DOE Order 5480.23. DOE 5480.23, Nuclear Safety Analysis Reports, Section 8b(3)(n) and Attachment 1, Section-M, require that HFE be analyzed in the PSAR for the adequacy of the current design and planned construction for internal and external communications, operational aids, instrumentation and controls, environmental factors such as heat, light, and noise and that an assessment of human performance under abnormal and emergency conditions be performed (DOE 1992a)

  10. Development of a HFE program for an operating NPP: Balancing between existing design practices and human factors standards

    International Nuclear Information System (INIS)

    Salo, Leena; Savioja, Paula

    2014-01-01

    This paper describes HFE program development project conducted at a Finnish power company Fortum. The aim of developing a formal HFE program was to improve integration of human factors issues in design of technical systems and to systematically document the HFE process of the company. As Fortum has a long tradition of designing control room solutions, the starting point of the HFE program development was the existing own design practices. On the other hand, the aim was to create a program which would comply with international guidelines such as NUREG-0711. The program development was conducted by tracing the HFE design practices in an on-going I and C modernization project. This empirical work was carried out by interviews of designers and other HFE key stake holders. After the explication of the current practices, the gaps, overlaps and differences in relation to the international standards and guidelines were identified. Based on an analysis of current practices and guidelines and standards a new HFE process model was created. The design process model can be followed in modifications which concern systems with human user interfaces of any kind. The model consists of five separate phases which comply with the general engineering design process model utilized at the company. The HFE program is intended to be both a practical guide on how to take human factors issues into consideration in the design of NPP systems and also a tool for the management of HFE activities

  11. Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis.

    Science.gov (United States)

    Lee, Seung-Min; Loguinov, Alexandre; Fleming, Robert E; Vulpe, Christopher D

    2015-01-01

    Hereditary hemochromatosis is an iron overload disorder most commonly caused by a defect in the HFE gene. While the genetic defect is highly prevalent, the majority of individuals do not develop clinically significant iron overload, suggesting the importance of genetic modifiers. Murine hfe knockout models have demonstrated that strain background has a strong effect on the severity of iron loading. We noted that hepatic iron loading in hfe-/- mice occurs primarily over the first postnatal weeks (loading phase) followed by a timeframe of relatively static iron concentrations (plateau phase). We thus evaluated the effects of background strain and of age on hepatic gene expression in Hfe knockout mice (hfe-/-). Hepatic gene expression profiles were examined using cDNA microarrays in 4- and 8-week-old hfe-/- and wild-type mice on two different genetic backgrounds, C57BL/6J (C57) and AKR/J (AKR). Genes differentially regulated in all hfe-/- mice groups, compared with wild-type mice, including those involved in cell survival, stress and damage responses and lipid metabolism. AKR strain-specific changes in lipid metabolism genes and C57 strain-specific changes in cell adhesion and extracellular matrix protein genes were detected in hfe-/- mice. Mouse strain and age are each significantly associated with hepatic gene expression profiles in hfe-/- mice. These affects may underlie or reflect differences in iron loading in these mice.

  12. Factors affecting the appreciation generated through applying human factors/ergonomics (HFE) principles to systems of work.

    Science.gov (United States)

    So, R H Y; Lam, S T

    2014-01-01

    This retrospective study examined the levels of appreciation (applause) given by clients to Human Factors/Ergonomic (HFE) specialists after they have modified the systems of work. Thirteen non-academic projects were chosen because the HFE interventions involved changed the way workers work at their workplaces. Companies involved range from multi-national corporations and military organizations with thousands of employees to small trading companies with less than 10 employees. In 5 cases the HFE recommendations were fully adopted and well appreciated. In 4 they were largely ignored and not appreciated, with partial adoption and some appreciation in the other 4 cases. Three factors that predict appreciation were identified: (i) alignment between the benefits HFE can provide and the project's key performance indices; (ii) awareness of HFE among the client's senior management; and (iii) a team organization appropriate for applying HFE recommendations. Having an HFE specialist on the client's side can greatly increase levels of appreciation, but lack of such a specialist will not affect levels of appreciation. A clear contractual requirement for HFE intervention does not promote appreciation significantly, but its absence can greatly reduce levels of appreciation. These relationships are discussed using the Kano's model of quality. Means to generate greater appreciation of the benefits of HFE are discussed. Copyright © 2013 Elsevier Ltd and The Ergonomics Society. All rights reserved.

  13. HFE MUTATIONS AND IRON OVERLOAD IN PATIENTS WITH ALCOHOLIC LIVER DISEASE

    Directory of Open Access Journals (Sweden)

    Luis COSTA-MATOS

    2013-03-01

    Full Text Available Context Alcoholic liver disease (ALD is generally associated with iron overload, which may contribute to its pathogenesis, through increased oxidative stress and cellular damage. There are conflicting reports in literature about hemochromatosis (HFE gene mutations and the severity of liver disease in alcoholic patients. Objectives To compare the prevalence of mutations in the hemochromatosis (HFE gene between patients with ALD and healthy controls; to assess the relation of HFE mutations with liver iron stores and liver disease severity. Methods Liver biopsy specimens were obtained from 63 ALD patients (during routine treatment and 52 healthy controls (during elective cholecystectomy. All individuals underwent routine liver function tests and HFE genotyping (to detect wild-type sequences and C282Y, H63D, S65C, E168Q, E168X, V59M, H63H, P160delC, Q127H, Q283P, V53M and W164X mutations. Associations between HFE mutations and risk of excessive liver iron stores, abnormal serum ferritin, liver fibrosis, or necroinflammatory activity were assessed by multivariate logistic regression analysis. Results ALD patients had significantly higher serum ferritin and transferrin saturation than controls (both P<0.05, but the distribution of HFE mutations was similar between the two groups. For ALD patients, the odds ratio for having at least one HFE mutation and excessive liver iron stores was 17.23 (95% confidence interval (CI: 2.09-142.34, P = 0.008. However, the presence of at least one HFE mutation was not associated with an increased risk of liver fibrosis or necroinflammatory activity. Active alcohol ingestion showed the strongest association to increased serum ferritin (OR = 8.87, 95% CI: 2.11-34.78, P = 0.003. Conclusions ALD patients do not present with a differential profile of HFE mutations from healthy controls. In ALD patients, however, the presence of at least one HFE mutation increases the risk of having excessive liver iron stores but has no

  14. Alternative Polyadenylation and Nonsense-Mediated Decay Coordinately Regulate the Human HFE mRNA Levels

    Science.gov (United States)

    Martins, Rute; Proença, Daniela; Silva, Bruno; Barbosa, Cristina; Silva, Ana Luísa; Faustino, Paula; Romão, Luísa

    2012-01-01

    Nonsense-mediated decay (NMD) is an mRNA surveillance pathway that selectively recognizes and degrades defective mRNAs carrying premature translation-termination codons. However, several studies have shown that NMD also targets physiological transcripts that encode full-length proteins, modulating their expression. Indeed, some features of physiological mRNAs can render them NMD-sensitive. Human HFE is a MHC class I protein mainly expressed in the liver that, when mutated, can cause hereditary hemochromatosis, a common genetic disorder of iron metabolism. The HFE gene structure comprises seven exons; although the sixth exon is 1056 base pairs (bp) long, only the first 41 bp encode for amino acids. Thus, the remaining downstream 1015 bp sequence corresponds to the HFE 3′ untranslated region (UTR), along with exon seven. Therefore, this 3′ UTR encompasses an exon/exon junction, a feature that can make the corresponding physiological transcript NMD-sensitive. Here, we demonstrate that in UPF1-depleted or in cycloheximide-treated HeLa and HepG2 cells the HFE transcripts are clearly upregulated, meaning that the physiological HFE mRNA is in fact an NMD-target. This role of NMD in controlling the HFE expression levels was further confirmed in HeLa cells transiently expressing the HFE human gene. Besides, we show, by 3′-RACE analysis in several human tissues that HFE mRNA expression results from alternative cleavage and polyadenylation at four different sites – two were previously described and two are novel polyadenylation sites: one located at exon six, which confers NMD-resistance to the corresponding transcripts, and another located at exon seven. In addition, we show that the amount of HFE mRNA isoforms resulting from cleavage and polyadenylation at exon seven, although present in both cell lines, is higher in HepG2 cells. These results reveal that NMD and alternative polyadenylation may act coordinately to control HFE mRNA levels, possibly varying its

  15. Algunas mutaciones del derecho originario en el proceso de integración europea = Some mutations in the primary law during the european integration process

    OpenAIRE

    Allué Buiza, Alfredo

    2012-01-01

    La Integración Europea es de carácter jurídico internacional y también constitucional. Existen procesos de reforma intergubernamental, procesos cuasiconstituyentes, y procesos de mutación constitucional. Estos últimos procesos han existido a lo largo de todo el proceso de integración. Las mutaciones han inspirado posteriormente los cambios en el derecho originario.European integration has a legal character, international but also constitutional. There are intergovernmental refo...

  16. Mutaciones en el gen regulador de la conductancia transmembranal de la fibrosis quística en tres países latinoamericanos

    Directory of Open Access Journals (Sweden)

    CM Restrepo

    2001-07-01

    sido descritas más de 500 mutaciones, la principal es la mutación DF508, una deleción de tres pares de bases (3 pb, la cual resulta en la pérdida de un residuo de fenilalanina en la posición 508 de la proteína, esta mutación cuenta para 70% de los casos de FQ.

  17. APROXIMACIÓN A LA ESTRUCTURA TRIDIMENSIONAL DE LA DESMINA BOVINA Y DETERMINACIÓN DEL EFECTO DE MUTACIONES PUNTUALES IN-SILICO

    Directory of Open Access Journals (Sweden)

    J. D. Leal

    2013-01-01

    Full Text Available La desmina es el mayor filamento proteico intermedio del miocito y desempeña un papel importante respecto de las características de calidad cárnica, dada su función intracelular de sostén y que es sustrato de los principales sistemas proteolíticos post-mortem . En la determinación de los parámetros fisicoquímicos de dicha proteína y de su ARNm, se consideraron siete mutaciones (polimorfismos de nucleótido simple, SNP en bovino y cinco en porcino ubicadas en regiones exónicas. Mediante procedimientos computacionales se obtuvo un modelo tridimensional que incluyó desde el aminoácido 39 al 470 de la secuencia DAA32384.1. Se identificó que las mutaciones T49C y A45C del ARNm del bovino son responsables de una modificación en la estructura bidimensional del ARNm y de la disminución de su estabilidad in-silico , por lo que se les considera como las mutaciones más significativas para evaluar experimentalmente en bovinos.

  18. Trends in HFE Methods and Tools and Their Applicability to Safety Reviews

    Energy Technology Data Exchange (ETDEWEB)

    O' Hara, J.M.; Plott, C.; Milanski, J.; Ronan, A.; Scheff, S.; Laux, L.; and Bzostek, J.

    2009-09-30

    The U.S. Nuclear Regulatory Commission's (NRC) conducts human factors engineering (HFE) safety reviews of applicant submittals for new plants and for changes to existing plants. The reviews include the evaluation of the methods and tools (M&T) used by applicants as part of their HFE program. The technology used to perform HFE activities has been rapidly evolving, resulting in a whole new generation of HFE M&Ts. The objectives of this research were to identify the current trends in HFE methods and tools, determine their applicability to NRC safety reviews, and identify topics for which the NRC may need additional guidance to support the NRC's safety reviews. We conducted a survey that identified over 100 new HFE M&Ts. The M&Ts were assessed to identify general trends. Seven trends were identified: Computer Applications for Performing Traditional Analyses, Computer-Aided Design, Integration of HFE Methods and Tools, Rapid Development Engineering, Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. We assessed each trend to determine its applicability to the NRC's review by considering (1) whether the nuclear industry is making use of M&Ts for each trend, and (2) whether M&Ts reflecting the trend can be reviewed using the current design review guidance. We concluded that M&T trends that are applicable to the commercial nuclear industry and are expected to impact safety reviews may be considered for review guidance development. Three trends fell into this category: Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. The other trends do not need to be addressed at this time.

  19. Trends in HFE Methods and Tools and Their Applicability to Safety Reviews

    International Nuclear Information System (INIS)

    O'Hara, J.M.; Plott, C.; Milanski, J.; Ronan, A.; Scheff, S.; Laux, L.; Bzostek, J.

    2009-01-01

    The U.S. Nuclear Regulatory Commission's (NRC) conducts human factors engineering (HFE) safety reviews of applicant submittals for new plants and for changes to existing plants. The reviews include the evaluation of the methods and tools (M and T) used by applicants as part of their HFE program. The technology used to perform HFE activities has been rapidly evolving, resulting in a whole new generation of HFE M and Ts. The objectives of this research were to identify the current trends in HFE methods and tools, determine their applicability to NRC safety reviews, and identify topics for which the NRC may need additional guidance to support the NRC's safety reviews. We conducted a survey that identified over 100 new HFE M and Ts. The M and Ts were assessed to identify general trends. Seven trends were identified: Computer Applications for Performing Traditional Analyses, Computer-Aided Design, Integration of HFE Methods and Tools, Rapid Development Engineering, Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. We assessed each trend to determine its applicability to the NRC's review by considering (1) whether the nuclear industry is making use of M and Ts for each trend, and (2) whether M and Ts reflecting the trend can be reviewed using the current design review guidance. We concluded that M and T trends that are applicable to the commercial nuclear industry and are expected to impact safety reviews may be considered for review guidance development. Three trends fell into this category: Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. The other trends do not need to be addressed at this time.

  20. HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.

    Science.gov (United States)

    Campos, W N; Massaro, J D; Martinelli, A L C; Halliwell, J A; Marsh, S G E; Mendes-Junior, C T; Donadi, E A

    2017-10-01

    The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: (1) H63D C>G in exon 2, (2) IVS2 (+4) T>C in intron 2, (3) a C>G transversion in intron 3, (4) C282Y G>A in exon 4, (5) IVS4 (-44) T>C in intron 4, and (6) a new guanine deletion (G>del) in intron 5, which were used for haplotype inference. Nine HFE alleles were detected and six of these were officially named on the basis of the HLA Nomenclature, defined by the World Health Organization (WHO) Nomenclature Committee for Factors of the HLA System, and published via the IPD-IMGT/HLA website. Four alleles, HFE*001, *002, *003, and *004 exhibited variation within their exon sequences. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. HFE Genotype Restricts the Response to Paraquat in a Mouse Model of Neurotoxicity.

    Science.gov (United States)

    Nixon, Anne M; Meadowcroft, Mark D; Neely, Elizabeth B; Snyder, Amanda M; Purnell, Carson J; Wright, Justin; Lamendella, Regina; Nandar, Wint; Huang, Xuemei; Connor, James R

    2018-05-01

    Parkinson's disease is marked clinically by motor dysfunction and pathologically by dopaminergic cell loss in the substantia nigra and iron accumulation in the substantia nigra. The driver underlying iron accumulation remains unknown and could be genetic or environmental. The HFE protein is critical for the regulation of cellular iron uptake. Mutations within this protein are associated with increased iron accumulation including in the brain. We have focused on the commonly occurring H63D variant of the HFE gene as a disease modifier in a number of neurodegenerative diseases. To investigate the role of H63D HFE genotype, we generated a mouse model in which the wild-type (WT) HFE gene is replaced by the H67D gene variant (mouse homolog of the human H63D gene variant). Using paraquat toxicity as the model for Parkinson's disease, we found that WT mice responded as expected with significantly greater motor function, loss of tyrosine hydroxylase staining and increase microglial staining in the substantia nigra, and an increase in R 2 relaxation rate within the substantia nigra of the paraquat-treated mice compared to their saline-treated counterparts. In contrast, the H67D mice showed a remarkable resistance to paraquat treatment; specifically differing from the WT mice with no changes in motor function or changes in R 2 relaxation rates following paraquat exposure. At baseline, there were differences between the H67D HFE mice and WT mice in gut microbiome profile and increased L-ferritin staining in the substantia nigra that could account for the resistance to paraquat. Of particular note, the H67D HFE mice regardless of whether or not they were treated with paraquat had significantly less tyrosine hydroxylase immunostaining than WT. Our results clearly demonstrate that the HFE genotype impacts the expression of tyrosine hydroxylase in the substantia nigra, the gut microbiome and the response to paraquat providing additional support that the HFE genotype is a disease

  2. Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls

    OpenAIRE

    Holmström, P; Marmur, J; Eggertsen, G; Gåfvels, M; Stål, P

    2002-01-01

    Background and aims: The role of the HFE S65C mutation in the development of hepatic iron overload is unknown. The aim of the present study was: (A) to determine the HFE S65C frequency in a Northern European population; and (B) to evaluate whether the presence of the HFE S65C mutation would result in a significant hepatic iron overload.

  3. Preliminary investigation of bottlenose dolphins (Tursiops truncatus) for hfe gene-related hemochromatosis.

    Science.gov (United States)

    Phillips, Brianne E; Venn-Watson, Stephanie; Archer, Linda L; Nollens, Hendrik H; Wellehan, James F X

    2014-10-01

    Hemochromatosis (iron storage disease) has been reported in diverse mammals including bottlenose dolphins (Tursiops truncatus). The primary cause of excessive iron storage in humans is hereditary hemochromatosis. Most human hereditary hemochromatosis cases (up to 90%) are caused by a point mutation in the hfe gene, resulting in a C282Y substitution leading to iron accumulation. To evaluate the possibility of a hereditary hemochromatosis-like genetic predisposition in dolphins, we sequenced the bottlenose dolphin hfe gene, using reverse transcriptase-PCR and hfe primers designed from the dolphin genome, from liver of affected and healthy control dolphins. Sample size included two case animals and five control animals. Although isotype diversity was evident, no coding differences were identified in the hfe gene between any of the animals examined. Because our sample size was small, we cannot exclude the possibility that hemochromatosis in dolphins is due to a coding mutation in the hfe gene. Other potential causes of hemochromatosis, including mutations in different genes, diet, primary liver disease, and insulin resistance, should be evaluated.

  4. HFE Gene Mutations and Iron Status in 100 Healthy Polish Children.

    Science.gov (United States)

    Kaczorowska-Hac, Barbara; Luszczyk, Marcin; Antosiewicz, Jedrzej; Ziolkowski, Wieslaw; Adamkiewicz-Drozynska, Elzbieta; Mysliwiec, Malgorzata; Milosz, Ewa; Kaczor, Jan J

    2017-07-01

    Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status. The wild-type HFE gene was predominant being observed in 60 children (60%). Twenty-five children (25%), presented with heterozygotic H63D mutation, and 15 children (15%), presented with other mutations (heterozygotic C282Y and S65C mutation, compound heterozygotes C282Y/S65C, C282Y/H63D, H63D homozygote). The mean concentration of iron, the level of ferritin, and transferrin saturation were statistically higher in the group of HFE variants compared with the wild-type group. H63D carriers presented with higher mean concentration of iron, ferritin levels, and transferrin saturation compared with the wild-type group. Male HFE carriers presented with higher iron concentration, transferrin saturation, and ferritin levels than females. This preliminary investigation demonstrates allelic impact on potential disease progression from childhood.

  5. Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Praline, Julien; Blasco, Hélène; Vourc'h, Patrick; Rat, Valérian; Gendrot, Chantal; Camu, William; Andres, Christian R

    2012-06-15

    Our objective was to investigate whether the C282Y (p.Cys 282 Tyr) and H63D (p. His 63 Asp) HFE polymorphisms were associated with sporadic amyotrophic lateral sclerosis (SALS) in the French population. We searched for a relation of HFE polymorphisms with the clinical characteristics of the disease. The HFE polymorphisms were studied in 824 patients with SALS and 583 controls. We compared the frequency of the polymorphisms between SALS and controls groups by univariate and multivariate statistics, taking into account gender, site, age-at-onset and survival. We did not observe significant difference in the frequency of H63D polymorphism between SALS and control group. We observed a significant difference for C282Y between patients and controls with a low frequency of the Y allele in patients (3.2%) compared to our control group (5.9%). Disease duration, distribution of gender, site-of-onset, age-at-onset did not differ between groups taking into account genotypes of each polymorphism. Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. This conclusion does not exclude a weak effect of the HFE gene polymorphisms in certain ALS populations, or an effect of other rare HFE gene variants. Copyright © 2012 Elsevier B.V. All rights reserved.

  6. Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading.

    Science.gov (United States)

    Johnstone, Daniel; Graham, Ross M; Trinder, Debbie; Delima, Roheeth D; Riveros, Carlos; Olynyk, John K; Scott, Rodney J; Moscato, Pablo; Milward, Elizabeth A

    2012-04-11

    Severe disruption of brain iron homeostasis can cause fatal neurodegenerative disease, however debate surrounds the neurologic effects of milder, more common iron loading disorders such as hereditary hemochromatosis, which is usually caused by loss-of-function polymorphisms in the HFE gene. There is evidence from both human and animal studies that HFE gene variants may affect brain function and modify risks of brain disease. To investigate how disruption of HFE influences brain transcript levels, we used microarray and real-time reverse transcription polymerase chain reaction to assess the brain transcriptome in Hfe(-/-) mice relative to wildtype AKR controls (age 10 weeks, n≥4/group). The Hfe(-/-) mouse brain showed numerous significant changes in transcript levels (pgenes relating to transcriptional regulation (FBJ osteosarcoma oncogene Fos, early growth response genes), neurotransmission (glutamate NMDA receptor Grin1, GABA receptor Gabbr1) and synaptic plasticity and memory (calcium/calmodulin-dependent protein kinase IIα Camk2a). As previously reported for dietary iron-supplemented mice, there were altered levels of transcripts for genes linked to neuronal ceroid lipofuscinosis, a disease characterized by excessive lipofuscin deposition. Labile iron is known to enhance lipofuscin generation which may accelerate brain aging. The findings provide evidence that iron loading disorders can considerably perturb levels of transcripts for genes essential for normal brain function and may help explain some of the neurologic signs and symptoms reported in hemochromatosis patients. Copyright © 2012 Elsevier B.V. All rights reserved.

  7. Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.

    Science.gov (United States)

    Hamdi-Rozé, Houda; Beaumont-Epinette, Marie-Pascale; Ben Ali, Zeineb; Le Lan, Caroline; Loustaud-Ratti, Véronique; Causse, Xavier; Loreal, Olivier; Deugnier, Yves; Brissot, Pierre; Jouanolle, Anne-Marie; Bardou-Jacquet, Edouard

    2016-12-01

    p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes. Patients referred for hemochromatosis to the National Reference Centre for Rare Iron Overload Diseases from 2004 to 2010 were studied. Sequencing was performed for coding region and intronic flanking sequences of HFE, HAMP, HFE2, TFR2, and SLC40A1. Nine private HFE variants were identified in 13 of 206 unrelated patients. Among those, five have not been previously described: p.Leu270Argfs*4, p.Ala271Valfs*25, p.Tyr52*, p.Lys166Asn, and p.Asp141Tyr. Our results show that rare HFE variants are identified more frequently than variants in the other genes associated with iron overload. Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients. Am. J. Hematol. 91:1202-1205, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  8. An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia.

    Science.gov (United States)

    Davis, Charronne F; Dorak, M Tevfik

    2010-04-01

    The most common mutation of the HFE gene C282Y has shown a risk association with childhood acute lymphoblastic leukemia (ALL) in Welsh and Scottish case-control studies. This finding has not been replicated outside Britain. Here, we present a thorough analysis of the HFE gene in a panel of HLA homozygous reference cell lines and in the original population sample from South Wales (117 childhood ALL cases and 414 newborn controls). The 21 of 24 variants analyzed were from the HFE gene region extending 52 kb from the histone gene HIST1H1C to HIST1H1T. We identified the single-nucleotide polymorphism (SNP) rs807212 as a tagging SNP for the most common HFE region haplotype, which contains wild-type alleles of all HFE variants examined. This intergenic SNP rs807212 yielded a strong male-specific protective association (per allele OR = 0.38, 95% CI = 0.22-0.64, P (trend) = 0.0002; P = 0.48 in females), which accounted for the original C282Y risk association. In the HapMap project data, rs807212 was in strong linkage disequilibrium with 25 other SNPs spanning 151 kb around HFE. Minor alleles of these 26 SNPs characterized the most common haplotype for the HFE region, which lacked all disease-associated HFE variants. The HapMap data suggested positive selection in this region even in populations where the HFE C282Y mutation is absent. These results have implications for the sex-specific associations observed in this region and suggest the inclusion of rs807212 in future studies of the HFE gene and the extended HLA class I region.

  9. C282Y polymorphism in the HFE gene is associated with risk of breast cancer.

    Science.gov (United States)

    Liu, Xiaoyan; Lv, Chunlei; Luan, Xiaorong; Lv, Ming

    2013-10-01

    The C282Y and H63D polymorphisms in the HFE gene have been implicated in susceptibility of breast cancer, but a number of studies have reported inconclusive results. The aim of this study is to investigate the association between the C282Y and H63D polymorphisms in the HFE gene and breast cancer risk by meta-analysis. We searched PubMed and Embase databases, covering all related studies until March 2, 2013. Statistical analysis was performed using STATA 10.0. A total of 7 studies including 1,720 cases and 18,296 controls for HFE C282Y polymorphism and 5 studies including 942 cases and 1,571 controls for HFE H63D polymorphism were included in the meta-analysis. The results showed that HFE C282Y polymorphism was significantly associated with increased risk of breast cancer under homozygotes vs. wild-type model (OR = 2.06, 95%CI = 1.19-3.58) and recessive model (OR = 1.98, 95%CI = 1.14-3.44) but not under heterozygotes vs. wild-type model (OR = 0.97, 95%CI = 0.70-1.35), dominant model (OR = 1.00, 95%CI = 0.72-1.40) and multiplicative model (OR = 1.04, 95%CI = 0.76-1.42). However, we did not find any association between HFE H63D polymorphism and breast cancer risk under all genetic models. This current meta-analysis suggested that C282Y polymorphism rather than H63D might be associated with increased risk of breast cancer.

  10. Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption.

    Science.gov (United States)

    Ye, Kaixiong; Cao, Chang; Lin, Xu; O'Brien, Kimberly O; Gu, Zhenglong

    2015-06-10

    HFE, a major regulator of iron (Fe) homeostasis, has been suggested to be under positive selection in both European and Asian populations. While the genetic variant under selection in Europeans (a non-synonymous mutation, C282Y) has been relatively well-studied, the adaptive variant in Asians and its functional consequences are still unknown. Identifying the adaptive HFE variants in Asians will not only elucidate the evolutionary history and the genetic basis of population difference in Fe status, but also assist the future practice of genome-informed dietary recommendation. Using data from the International HapMap Project, we confirmed the signatures of positive selection on HFE in Asian populations and identified a candidate adaptive haplotype that is common in Asians (52.35-54.71%) but rare in Europeans (5.98%) and Africans (4.35%). The T allele at tag SNP rs9366637 (C/T) captured 95.8% of this Asian-common haplotype. A significantly reduced HFE expression was observed in individuals carrying T/T at rs9366637 compared to C/C and C/T, indicating a possible role of gene regulation in adaptation. We recruited 57 women of Asian descent and measured Fe absorption using stable isotopes in those homozygous at rs9366637. We observed a 22% higher absorption in women homozygous for the Asian-common haplotype (T/T) compared to the control genotype (C/C). Additionally, compared with a group of age-matched Caucasian women, Asian women exhibited significantly elevated Fe absorption. Our results indicate parallel adaptation of HFE gene in Europeans and Asians with different genetic variants. Moreover, natural selection on HFE may have contributed to elevated Fe absorption in Asians. This study regarding population differences in Fe homeostasis has significant medical impact as high Fe level has been linked to an increased disease risk of metabolic syndromes.

  11. Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.

    Science.gov (United States)

    Shi, Zumin; Johnstone, Daniel; Talseth-Palmer, Bente A; Evans, Tiffany-Jane; Spigelman, Allan D; Groombridge, Claire; Milward, Elizabeth A; Olynyk, John K; Suchy, Janina; Kurzawski, Grzegorz; Lubinski, Jan; Scott, Rodney J

    2009-07-01

    Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by germline mutations in DNA mismatch repair genes; however, variation in disease expression suggests that there are potential modifying factors. Polymorphisms of the HFE gene, which cause the iron overload disorder hereditary haemochromatosis, have been proposed as potential risk factors for the development of colorectal cancer (CRC). To understand the relationship between HNPCC disease phenotype and polymorphisms of the HFE gene, a total of 362 individuals from Australia and Poland with confirmed causative MMR gene mutations were genotyped for the HFE C282Y and H63D polymorphisms. A significantly increased risk of developing CRC was observed for H63D homozygotes when compared with combined wild-type homozygotes and heterozygotes (hazard ratio = 2.93, p = 0.007). Evidence for earlier CRC onset was also observed in H63D homozygotes with a median age of onset 6 years earlier than wild type or heterozygous participants (44 vs. 50 years of age). This effect was significant by all tests used (log-rank test p = 0.026, Wilcoxon p = 0.044, Tarone-Ware p = 0.035). No association was identified for heterozygosity of either polymorphism and limitations on power-prevented investigation of C282Y homozygosity or compound C282Y/H63D heterozygosity. In the Australian sample only, women had a significantly reduced risk of developing CRC when compared with men (hazard ratio = 0.58, p = 0.012) independent of HFE genotype for either single nucleotide polymorphisms. In conclusion, homozygosity for the HFE H63D polymorphism seems to be a genetic modifier of disease expression in HNPCC. Understanding the mechanisms by which HFE interrelates with colorectal malignancies could lead to reduction of disease risk in HNPCC.

  12. Hereditary Hemochromatosis (HFE genotypes in heart failure: Relation to etiology and prognosis

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    Torp-Pedersen Christian

    2010-07-01

    Full Text Available Abstract Background It is believed that hereditary hemochromatosis (HH might play a role in cardiac disease (heart failure (HF and ischemia. Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic significance of HFE genotypes. Methods We studied 667 HF patients (72.7% men with depressed systolic function, enrolled in a multicentre trial with a follow-up period of up to 5 years. All were genotyped for the known HFE variants C282Y, H63D and S65C. Results The genotype and allele frequencies in the HF group were similar to the frequencies determined in the general Danish population. In multivariable analysis mortality was not predicted by C282Y-carrier status (HR 1.2, 95% CI: 0.8-1.7; H63D-carrier status (HR 1.0, 95% CI: 0.7-1.3; nor S65C-carrier status (HR 1.2, 95% CI: 0.7-2.0. We identified 27 (4.1% homozygous or compound heterozygous carriers of HFE variants. None of these carriers had a clinical presentation suggesting hemochromatosis, but hemoglobin and ferritin levels were higher than in the rest of the cohort. Furthermore, a trend towards reduced mortality was seen in this group in univariate analyses (HR 0.4, 95% CI: 0.2-0.9, p = 0.03, but not in multivariate (HR 0.5, 95% CI: 0.2-1.2. Conclusion HFE genotypes do not seem to be a significant contributor to the etiology of heart failure in Denmark. HFE variants do not affect mortality in HF.

  13. The expression of the soluble HFE corresponding transcript is up-regulated by intracellular iron and inhibits iron absorption in a duodenal cell model

    OpenAIRE

    Silva, Bruno; Ferreira, Joana; Santos, Vera; Baldaia, Cilénia; Serejo, Fátima; Faustino, Paula

    2014-01-01

    Background and aims: Dietary iron absorption regulation is a key-step for the maintenance of body iron homeostasis. Besides the HFE full-length protein, the HFE gene codes for alternative splicing variants responsible for the synthesis of a soluble form of HFE protein (sHFE). Here we aimed to determine whether sHFE transcript levels respond to different iron conditions in duodenal, macrophage and hepatic cell models, as well, in vivo, in the liver. Furthermore, we determined the functional ef...

  14. Videojuegos: máquinas del tiempo y mutaciones de la subjetividad

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    Nina Alejandra Cabra Ayala

    2010-01-01

    Full Text Available El artículo revisa las implicaciones de la relación con la tecnología en las sociedades contemporáneas. Esta reflexión se centra en el impacto que tienen los videojuegos en la relación tiempo-subjetividad-conocimiento, por medio de las transformaciones narrativas y de sus consecuentes alteraciones en la sensibilidad social y cultural. Así mismo, se plantea la idea de que los videojuegos se configuran como la realización de las propuestas de la ciencia ficción, considerada como metanarrativa de la modernidad, a través de la consolidación de la metáfora del cyborg como cuerpo alterado y reinventado.

  15. An Excel Macro to Plot the HFE-Diagram to Identify Sea Water Intrusion Phases.

    Science.gov (United States)

    Giménez-Forcada, Elena; Sánchez San Román, F Javier

    2015-01-01

    A hydrochemical facies evolution diagram (HFE-D) is a multirectangular diagram, which is a useful tool in the interpretation of sea water intrusion processes. This method note describes a simple method for generating an HFE-D plot using the spreadsheet software package, Microsoft Excel. The code was applied to groundwater from the alluvial coastal plain of Grosseto (Tuscany, Italy), which is characterized by a complex salinization process in which sea water mixes with sulfate or bicarbonate recharge water. © 2014, National GroundWater Association.

  16. Heat transfer and entropy generation analysis of HFE 7000 based nanorefrigerants

    OpenAIRE

    Helvaci, H.; Khan, Zulfiqar Ahmad

    2017-01-01

    In this study, two dimensional numerical simulations of forced convection flow of HFE 7000 based nanofluids in a horizontal circular tube subjected to a constant and uniform heat flux in laminar flow was performed by using single phase homogeneous model. Four different nanofluids considered in the present study are Al2O3, CuO, SiO2 and MgO nanoparticles dispersed in pure HFE 7000. The simulations were performed with particle volumetric concentrations of 0, 1, 4 and 6% and Reynolds number of 4...

  17. Reduced white matter MRI transverse relaxation rate in cognitively normal H63D-HFE human carriers and H67D-HFE mice.

    Science.gov (United States)

    Meadowcroft, Mark D; Wang, Jianli; Purnell, Carson J; Peters, Douglas G; Eslinger, Paul J; Neely, Elizabeth B; Gill, David J; Vasavada, Megha; Ali-Rahmani, Fatima; Yang, Qing X; Connor, James R

    2016-12-01

    Mutations within the HFE protein gene sequence have been associated with increased risk of developing a number of neurodegenerative disorders. To this effect, an animal model has been created which incorporates the mouse homologue to the human H63D-HFE mutation: the H67D-HFE knock-in mouse. These mice exhibit alterations in iron management proteins, have increased neuronal oxidative stress, and a disruption in cholesterol regulation. However, it remains undetermined how these differences translate to human H63D carriers in regards to white matter (WM) integrity. To this endeavor, MRI transverse relaxation rate (R 2 ) parametrics were employed to test the hypothesis that WM alterations are present in H63D human carriers and are recapitulated in the H67D mice. H63D carriers exhibit widespread reductions in brain R 2 compared to non-carriers within white matter association fibers in the brain. Similar R 2 decreases within white matter tracts were observed in the H67D mouse brain. Additionally, an exacerbation of age-related R 2 decrease is found in the H67D animal model in white matter regions of interest. The decrease in R 2 within white matter tracts of both species is speculated to be multifaceted. The R 2 changes are hypothesized to be due to alterations in axonal biochemical tissue composition. The R 2 changes observed in both the human-H63D and mouse-H67D data suggest that modified white matter myelination is occurring in subjects with HFE mutations, potentially increasing vulnerability to neurodegenerative disorders.

  18. The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system.

    Science.gov (United States)

    Reuben, Alexandre; Chung, Jacqueline W; Lapointe, Réjean; Santos, Manuela M

    2017-09-01

    Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that have thereby implicated HFE in the immune response. Growing evidence has supported an immunological role for HFE with recent studies describing HFE specifically as it relates to MHC I antigen presentation. Here, we present a comprehensive overview of the relationship between iron metabolism, HFE, and the immune system to better understand the origin and cause of immune defects in HH patients. We further describe the role of HFE in MHC I antigen presentation and its potential to impair autoimmune responses in homeostatic conditions, a mechanism which may be exploited by tumors to evade immune surveillance. Overall, this increased understanding of the role of HFE in the immune response sets the stage for better treatment and management of HH and other iron-related diseases, as well as of the immune defects related to this condition. © 2017 The Authors. Immunity, Inflammation and Disease Published by John Wiley & Sons Ltd.

  19. Association of HFE gene mutations with nonalcoholic fatty liver disease in the Iranian population.

    Science.gov (United States)

    Saremi, L; Lotfipanah, S; Mohammadi, M; Hosseinzadeh, H; Sayad, A; Saltanatpour, Z

    2016-10-31

    To determine whether the HFE gene variants H63D and C282Y are associated with NAFLD in persons with type 2 diabetes, we conducted a case-control study including 145 case of NAFLD patients with a history of type 2 diabetes and 145 matching control. The genomic DNA was extracted from the peripheral venous blood and the genotyping of HFE gene mutations was analyzed using the PCR-RFLP technique. Statistical analysis was performed using SPSS 12.0 software by χ2 test, t test and ANOVA (P<0.05). Data showed no increased frequency of HFE mutations in persons with type 2 diabetes and no association between H63D mutation and NAFLD in the study population. Also, we analyzed index of physiological variables including FBS, lipid profile (TC, TG, LDL-C, and HDL-C), BMI, HbA1c, and micro albuminuria and Cr levels). Data showed there are no relationship between these indexes and HFE gene mutations and either NAFLD as a complication of diabetes. But our results showed a relationship between C282Y mutation and NAFLD in persons with type 2 diabetes. C282Y mutation might be a genetic marker of NAFLD in Iranian population.

  20. A family with hereditary hemochromatosis carrying HFE gene splice site mutation: a case report

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    NING Huibin

    2017-01-01

    Full Text Available ObjectiveTo investigate a new type of HFE gene mutation in a family with hereditary hemochromatosis (HH. MethodsThe analysis of HFE gene was performed for one patient with a confirmed diagnosis of HH and five relatives. Blood genomic DNA was extracted and PCR multiplication was performed for the exon and intron splice sequences of related HFE, HJV, HAMP, transferrin receptor 2 (TfR2, and SLC40A1 genes. After agarose gel electrophoresis and purification, bi-directional direct sequencing was performed to detect mutation sites. ResultsThe proband had abnormal liver function and increases in serum iron, total iron binding capacity, serum ferritin, and transferrin saturation, as well as T→C homozygous mutation in the fourth base of intron 2 in the intervening sequence of the exon EXON2 of HFE gene (IVs 2+4T→C, C/C homozygous, splicing, abnormal. There were no abnormalities in HJV, HAMP, TfR2, and SLC40A1 genes. The proband′s son had the same homozygous mutation, three relatives had heterozygous mutations, and one relative had no abnormal mutations. ConclusionGene detection plays an important role in the diagnosis of hemochromatosis, and IVs 2+4T→C mutation may be a new pathogenic mutation for HH in China.

  1. A role for sex and a common HFE gene variant in brain iron uptake.

    Science.gov (United States)

    Duck, Kari A; Neely, Elizabeth B; Simpson, Ian A; Connor, James R

    2018-03-01

    HFE (high iron) is an essential protein for regulating iron transport into cells. Mutations of the HFE gene result in loss of this regulation causing accumulation of iron within the cell. The mutated protein has been found increasingly in numerous neurodegenerative disorders in which increased levels of iron in the brain are reported. Additionally, evidence that these mutations are associated with elevated brain iron challenges the paradigm that the brain is protected by the blood-brain barrier. While much has been studied regarding the role of HFE in cellular iron uptake, it has remained unclear what role the protein plays in the transport of iron into the brain. We investigated regulation of iron transport into the brain using a mouse model with a mutation in the HFE gene. We demonstrated that the rate of radiolabeled iron ( 59 Fe) uptake was similar between the two genotypes despite higher brain iron concentrations in the mutant. However, there were significant differences in iron uptake between males and females regardless of genotype. These data indicate that brain iron status is consistently maintained and tightly regulated at the level of the blood-brain barrier.

  2. HFE p.C282Y gene variant is associated with varicose veins in Russian population.

    Science.gov (United States)

    Sokolova, Ekaterina A; Shadrina, Alexandra S; Sevost'ianova, Kseniya S; Shevela, Andrey I; Soldatsky, Evgenii Yu; Seliverstov, Evgenii I; Demekhova, Marina Yu; Shonov, Oleg A; Ilyukhin, Evgenii A; Smetanina, Mariya A; Voronina, Elena N; Zolotukhin, Igor A; Filipenko, Maxim L

    2016-08-01

    Recently, the association of polymorphism rs1800562 (p.C282Y) in the hemochromatosis (HFE) gene with the increased risk of venous ulceration was shown. We hypothesized that HFE gene polymorphism might be involved not only in ulceration process, but also in susceptibility to primary varicose veins. We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754). In our study, p.282Y variant (rs1800562 A allele) was significantly associated with the risk of varicose veins (OR 1.79, 95 % CI = 1.11-2.89, P = 0.02). A borderline significant reverse association of p.63D variant (rs1799945 G allele) with venous leg ulcer development was revealed in Russians (OR 0.25, 95 % CI = 0.06-1.00, P = 0.05), but not in the meta-analysis (P = 0.56). We conclude that the HFE gene polymorphism can affect the risk of developing primary varicose veins.

  3. HFE p.H63D polymorphism does not influence ALS phenotype and survival.

    Science.gov (United States)

    Chiò, Adriano; Mora, Gabriele; Sabatelli, Mario; Caponnetto, Claudia; Lunetta, Christian; Traynor, Bryan J; Johnson, Janel O; Nalls, Mike A; Calvo, Andrea; Moglia, Cristina; Borghero, Giuseppe; Monsurrò, Maria Rosaria; La Bella, Vincenzo; Volanti, Paolo; Simone, Isabella; Salvi, Fabrizio; Logullo, Francesco O; Nilo, Riva; Giannini, Fabio; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Zollino, Marcella; Conforti, Francesca L; Penco, Silvana; Brunetti, Maura; Barberis, Marco; Restagno, Gabriella

    2015-10-01

    It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significantly differ by age at onset, site of onset of symptoms, and survival; however, in SOD1 patients with CG or GG polymorphism had a significantly longer survival than those with a CC polymorphism. Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. HFE C282Y/H63D Compound Heterozygotes Are at Low Risk of Hemochromatosis-Related Morbidity

    OpenAIRE

    Gurrin, Lyle C.; Bertalli, Nadine A.; Dalton, Gregory W.; Osborne, Nicholas J.; Constantine, Clare C.; McLaren, Christine E.; English, Dallas R.; Gertig, Dorota M.; Delatycki, Martin B.; Nicoll, Amanda J.; Southey, Melissa C.; Hopper, John L.; Giles, Graham G.; Anderson, Gregory J.; Olynyk, John K.

    2009-01-01

    The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, complete...

  5. Iron overload and HFE gene mutations in Polish patients with liver cirrhosis.

    Science.gov (United States)

    Sikorska, Katarzyna; Romanowski, Tomasz; Stalke, Piotr; Iżycka-Świeszewska, Ewa; Bielawski, Krzysztof Piotr

    2011-06-01

    Increased liver iron stores may contribute to the progression of liver injury and fibrosis, and are associated with a higher risk of hepatocellular carcinoma development. Pre-transplant symptoms of iron overload in patients with liver cirrhosis are associated with higher risk of infectious and malignant complications in liver transplant recipients. HFE gene mutations may be involved in the pathogenesis of liver iron overload and influence the progression of chronic liver diseases of different origins. This study was designed to determine the prevalence of iron overload in relation to HFE gene mutations among Polish patients with liver cirrhosis. Sixty-one patients with liver cirrhosis included in the study were compared with a control group of 42 consecutive patients subjected to liver biopsy because of chronic liver diseases. Liver function tests and serum iron markers were assessed in both groups. All patients were screened for HFE mutations (C282Y, H63D, S65C). Thirty-six of 61 patients from the study group and all controls had liver biopsy performed with semiquantitative assessment of iron deposits in hepatocytes. The biochemical markers of iron overload and iron deposits in the liver were detected with a higher frequency (70% and 47% respectively) in patients with liver cirrhosis. There were no differences in the prevalence of all HFE mutations in both groups. In patients with a diagnosis of hepatocellular carcinoma, no significant associations with iron disorders and HFE gene mutations were found. Iron disorders were detected in patients with liver cirrhosis frequently but without significant association with HFE gene mutations. Only the homozygous C282Y mutation seems to occur more frequently in the selected population of patients with liver cirrhosis. As elevated biochemical iron indices accompanied liver iron deposits more frequently in liver cirrhosis compared to controls with chronic liver disease, there is a need for more extensive studies searching for

  6. Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload

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    Rodolfo Delfini Cançado

    Full Text Available CONTEXT AND OBJECTIVE: Hemochromatosis is a common inherited disorder of iron metabolism and one of the most important causes of iron overload. The objective was to analyze the presence of C282Y, H63D and S65C mutations in the HFE gene and HLA-A alleles for a group of Brazilian patients with iron overload, and to correlate genotype with clinical and laboratory variables. DESIGN AND SETTING: Prospective study, in Discipline of Hematology and Oncology, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo. METHODS: We studied 35 patients with iron overload seen at our outpatient unit between January 2001 and December 2003. Fasting levels of serum iron and ferritin, and total iron-binding capacity, were assayed using standard techniques. Determinations of C282Y, H63D and S65C mutations in the HFE gene and of HLA-A alleles were performed by polymerase chain reaction (PCR. RESULTS: Twenty-six out of 35 patients (74% presented at least one of the HFE gene mutations analyzed. Among these, five (14% were C282Y/C282Y, four (11% C282Y/H63D, one (3% H63D/H63D, six (17% C282Y/WT and ten (29% H63D/WT. No patients had the S65C mutation and nine (25% did not present any of the three HFE mutations. Four out of five patients with C282Y/C282Y genotype (80% and three out of four patients with C282Y/H63D genotype (75% were HLA A*03. CONCLUSION: Analysis of HFE gene mutations constitutes an important procedure in identifying patients with hereditary hemochromatosis, particularly for patients with iron overload.

  7. HFE MUTATIONS AND IRON OVERLOAD IN PATIENTS WITH ALCOHOLIC LIVER DISEASE

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    Luís COSTA-MATOS

    2013-03-01

    Full Text Available Context Alcoholic liver disease (ALD is generally associated with iron overload, which may contribute to its pathogenesis, through increased oxidative stress and cellular damage. There are conflicting reports in literature about hemochromatosis (HFE gene mutations and the severity of liver disease in alcoholic patients. Objectives To compare the prevalence of mutations in the hemochromatosis (HFE gene between patients with ALD and healthy controls; to assess the relation of HFE mutations with liver iron stores and liver disease severity. Methods Liver biopsy specimens were obtained from 63 ALD patients (during routine treatment and 52 healthy controls (during elective cholecystectomy. All individuals underwent routine liver function tests and HFE genotyping (to detect wild-type sequences and C282Y, H63D, S65C, E168Q, E168X, V59M, H63H, P160delC, Q127H, Q283P, V53M and W164X mutations. Associations between HFE mutations and risk of excessive liver iron stores, abnormal serum ferritin, liver fibrosis, or necroinflammatory activity were assessed by multivariate logistic regression analysis. Results ALD patients had significantly higher serum ferritin and transferrin saturation than controls (both P Contexto A doença hepática alcoólica (DHA está geralmente associada à sobrecarga de ferro, que pode contribuir para a sua patogênese, através do aumento do estresse oxidativo e dano celular. As descrições existentes na literatura sobre a associação entre mutações HFE e a gravidade da DHA nem sempre são concordantes. Objetivos Comparar a prevalência de mutações HFE entre um grupo de pacientes com DHA e uma população de controle. Avaliar a relação entre mutações HFE e os depósitos de ferro hepático. Avaliar se a presença dessas mutações está associada com a gravidade da DHA. Métodos Compararam-se 63 pacientes com DHA que efetuaram biopsia hepática com 52 controles saudáveis. A genotipagem HFE (wild type, C282Y, H63D, S65C, E

  8. Mutant HFE H63D Protein Is Associated with Prolonged Endoplasmic Reticulum Stress and Increased Neuronal Vulnerability*

    Science.gov (United States)

    Liu, Yiting; Lee, Sang Y.; Neely, Elizabeth; Nandar, Wint; Moyo, Mthabisi; Simmons, Zachary; Connor, James R.

    2011-01-01

    A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease. Mutations of HFE are best known as being associated with cellular iron overload, but the mechanism by which HFE H63D might increase the risk of neuron degeneration is unclear. Here, using an inducible expression cell model developed from a human neuronal cell line SH-SY5Y, we reported that the presence of the HFE H63D protein activated the unfolded protein response (UPR). This response was followed by a persistent endoplasmic reticulum (ER) stress, as the signals of UPR sensors attenuated and followed by up-regulation of caspase-3 cleavage and activity. Our in vitro findings were recapitulated in a transgenic mouse model carrying Hfe H67D, the mouse equivalent of the human H63D mutation. In this model, UPR activation was detected in the lumbar spinal cord at 6 months then declined at 12 months in association with increased caspase-3 cleavage. Moreover, upon the prolonged ER stress, the number of cells expressing HFE H63D in early apoptosis was increased moderately. Cell proliferation was decreased without increased cell death. Additionally, despite increased iron level in cells carrying HFE H63D, it appeared that ER stress was not responsive to the change of cellular iron status. Overall, our studies indicate that the HFE H63D mutant protein is associated with prolonged ER stress and chronically increased neuronal vulnerability. PMID:21349849

  9. A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.

    Science.gov (United States)

    Nandar, Wint; Neely, Elizabeth B; Unger, Erica; Connor, James R

    2013-06-01

    Because of the increasing evidence that H63D HFE polymorphism appears in higher frequency in neurodegenerative diseases, we evaluated the neurological consequences of H63D HFE in vivo using mice that carry H67D HFE (homologous to human H63D). Although total brain iron concentration did not change significantly in the H67D mice, brain iron management proteins expressions were altered significantly. The 6-month-old H67D mice had increased HFE and H-ferritin expression. At 12 months, H67D mice had increased H- and L-ferritin but decreased transferrin expression suggesting increased iron storage and decreased iron mobilization. Increased L-ferritin positive microglia in H67D mice suggests that microglia increase iron storage to maintain brain iron homeostasis. The 6-month-old H67D mice had increased levels of GFAP, increased oxidatively modified protein levels, and increased cystine/glutamate antiporter (xCT) and hemeoxygenase-1 (HO-1) expression indicating increased metabolic and oxidative stress. By 12 months, there was no longer increased astrogliosis or oxidative stress. The decrease in oxidative stress at 12 months could be related to an adaptive response by nuclear factor E2-related factor 2 (Nrf2) that regulates antioxidant enzymes expression and is increased in the H67D mice. These findings demonstrate that the H63D HFE impacts brain iron homeostasis, and promotes an environment of oxidative stress and induction of adaptive mechanisms. These data, along with literature reports on humans with HFE mutations provide the evidence to overturn the traditional paradigm that the brain is protected from HFE mutations. The H67D knock-in mouse can be used as a model to evaluate how the H63D HFE mutation contributes to neurodegenerative diseases. Copyright © 2013 Elsevier B.V. All rights reserved.

  10. Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene.

    Science.gov (United States)

    Hermine, Olivier; Dine, Gérard; Genty, Vincent; Marquet, Laurie-Anne; Fumagalli, Gabriela; Tafflet, Muriel; Guillem, Flavia; Van Lierde, Françoise; Rousseaux-Blanchi, Marie-Philippe; Palierne, Christian; Lapostolle, Jean-Claude; Cervetti, Jean-Pierre; Frey, Alain; Jouven, Xavier; Noirez, Philippe; Toussaint, Jean-François

    2015-12-01

    The HFE gene encodes a protein involved in iron homeostasis; individuals with mutations in both alleles develop hemochromatosis. 27% of the French population is heterozygous for mutations in this gene. We found that 80% of the French athletes who won international competitions in rowing, Nordic skiing and judo display mutations in one allele of HFE, thus demonstrating the existence of a favourable phenotype linked to this heterozygosity. Copyright © 2015. Published by Elsevier B.V.

  11. A systematic review of human factors and ergonomics (HFE)-based healthcare system redesign for quality of care and patient safety.

    Science.gov (United States)

    Xie, Anping; Carayon, Pascale

    2015-01-01

    Healthcare systems need to be redesigned to provide care that is safe, effective and efficient, and meets the multiple needs of patients. This systematic review examines how human factors and ergonomics (HFE) is applied to redesign healthcare work systems and processes and improve quality and safety of care. We identified 12 projects representing 23 studies and addressing different physical, cognitive and organisational HFE issues in a variety of healthcare systems and care settings. Some evidence exists for the effectiveness of HFE-based healthcare system redesign in improving process and outcome measures of quality and safety of care. We assessed risk of bias in 16 studies reporting the impact of HFE-based healthcare system redesign and found varying quality across studies. Future research should further assess the impact of HFE on quality and safety of care, and clearly define the mechanisms by which HFE-based system redesign can improve quality and safety of care.

  12. Computational Profiling of Deleterious Non-Synonymous SNP’s in HFE

    Directory of Open Access Journals (Sweden)

    S. Sarath Raj

    2017-12-01

    Full Text Available Liver cirrhosis describes a condition where scar tissue gradually replaces healthy cells in liver. The main causes are sustained, excessive alcohol consumption, viral hepatitis B and C, and fatty liver disease - however, there are other possible causes. Hemochromatosis is most common form of iron overload disease. Three types of hemochromatosis are primary hemochromatosis, also called hereditary hemochromatosis; secondary hemochromatosis; and neonatal hemochromatosis. The HFE gene helps regulate the amount of iron absorbed from food and inherited genetic defects or mutation in HFE [C282Y] cause primary hemochromatosis. Computational approach is sought to determine other similar mutations in this gene. In-silico tools such as SIFT, Polyphen 2.0, and PROVEAN were employed to determine the various deleterious ns-SNPs of HFE that may influence cystic fibrosis.

  13. Liver steatosis correlates with iron overload but not with HFE gene mutations in chronic hepatitis C.

    Science.gov (United States)

    Sikorska, Katarzyna; Stalke, Piotr; Romanowski, Tomasz; Rzepko, Robert; Bielawski, Krzysztof Piotr

    2013-08-01

    Liver steatosis and iron overload, which are frequently observed in chronic hepatitis C (CHC), may contribute to the progression of liver injury. This study aimed to evaluate the correlation between liver steatosis and iron overload in Polish patients with CHC compared to non-alcoholic fatty liver disease (NAFLD) and HFE-hereditary hemochromatosis (HH) patients. A total of 191 CHC patients were compared with 67 NAFLD and 21 HH patients. Liver function tests, serum markers of iron metabolism, cholesterol and triglycerides were assayed. The inflammatory activity, fibrosis, iron deposits and steatosis stages were assessed in liver specimens. HFE gene polymorphisms were investigated by PCR-RFLP. Liver steatosis was associated with obesity and diabetes mellitus. This disease was confirmed in 76/174 (44%) CHC patients, most of whom were infected with genotype 1. The average grade of steatosis was higher in NAFLD patients. CHC patients had significantly higher iron concentrations and transferrin saturations than NAFLD patients. Compared with CHC patients, HH patients had higher values of serum iron parameters and more intensive hepatocyte iron deposits without differences in the prevalence and intensity of liver steatosis. In the CHC group, lipids accumulation in hepatocytes was significantly associated with the presence of serum markers of iron overload. No correlation between the HFE gene polymorphism and liver steatosis in CHC patients was found. Liver steatosis was diagnosed in nearly half of CHC patients, most of whom were infected with genotype 1. The intensity of steatosis was lower in CHC patients than that in NAFLD patients because of a less frequent diagnosis of metabolic syndrome. Only in CHC patients were biochemical markers of iron accumulation positively correlated with liver steatosis; these findings were independent of HFE gene mutations.

  14. Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

    Science.gov (United States)

    Del-Castillo-Rueda, Alejandro; Moreno-Carralero, María-Isabel; Cuadrado-Grande, Nuria; Alvarez-Sala-Walther, Luis-Antonio; Enríquez-de-Salamanca, Rafael; Méndez, Manuel; Morán-Jiménez, María-Josefa

    2012-10-15

    Hereditary hemochromatosis causes iron overload and is associated with a variety of genetic and phenotypic conditions. Early diagnosis is important so that effective treatment can be administered and the risk of tissue damage avoided. Most patients are homozygous for the c.845G>A (p.C282Y) mutation in the HFE gene; however, rare forms of genetic iron overload must be diagnosed using a specific genetic analysis. We studied the genotype of 5 patients who had hyperferritinemia and an iron overload phenotype, but not classic mutations in the HFE gene. Two patients were undergoing phlebotomy and had no iron overload, 1 with metabolic syndrome and no phlebotomy had mild iron overload, and 2 patients had severe iron overload despite phlebotomy. The patients' first-degree relatives also underwent the analysis. We found 5 not previously published mutations: c.-408_-406delCAA in HFE, c.1118G>A (p.G373D), c.1473G>A (p.E491E) and c.2085G>C (p.S695S) in TFR2; and c.-428_-427GG>TT in SLC40A1. Moreover, we found 3 previously published mutations: c.221C>T (p.R71X) in HFE; c.1127C>A (p.A376D) in TFR2; and c.539T>C (p.I180T) in SLC40A1. Four patients were double heterozygous or compound heterozygous for the mutations mentioned above, and the patient with metabolic syndrome was heterozygous for a mutation in the TFR2 gene. Our findings show that hereditary hemochromatosis is clinically and genetically heterogeneous and that acquired factors may modify or determine the phenotype. Copyright © 2012. Published by Elsevier B.V.

  15. Examination of HFE associations with childhood leukemia risk and extension to other iron regulatory genes.

    Science.gov (United States)

    Kennedy, Amy E; Kamdar, Kala Y; Lupo, Philip J; Okcu, M Fatih; Scheurer, Michael E; Baum, Marianna K; Dorak, M Tevfik

    2014-09-01

    Hereditary hemochromatosis (HFE) variants correlating with body iron levels have shown associations with cancer risk, including childhood acute lymphoblastic leukemia (ALL). Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. Being positive for either of the HFE variants yielded a modestly elevated odds ratio (OR) for childhood ALL risk in males (1.40, 95% CI=0.83-2.35), which increased to 2.96 (95% CI=1.29-6.80) in the presence of a particular TFRC genotype for rs3817672 (P interaction=0.04). The TFRC genotype also showed an ethnicity-specific association, with increased risk observed in non-Hispanic Whites (OR=2.54, 95% CI=1.05-6.12; P interaction with ethnicity=0.02). The three additional IRG SNPs all showed individual risk associations with childhood ALL in males (OR=1.52-2.60). A polygenic model based on the number of variant alleles in five IRG SNPs revealed a linear increase in risk among males with the increasing number of variants possessed (OR=2.0 per incremental change, 95% CI=1.29-3.12; P=0.002). Our results replicated previous HFE risk associations with childhood ALL in a US population and demonstrated novel associations for IRG SNPs, thereby strengthening the hypothesis that iron excess mediated by genetic variants contributes to childhood ALL risk. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

    Directory of Open Access Journals (Sweden)

    Ka Chandran

    2005-06-01

    Full Text Available Abstract Background Hereditary hemochromatosis (HH is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE, and of its main mutation (C282Y, has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. Methods We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. Results In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p -5, meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p Conclusion This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients.

  17. Somatic mutation and recombination induced with reactor thermal neutrons in Drosophila melanogaster; Mutacion y recombinacion somaticas inducidas con neutrones termicos de reactor en Drosophila melanogaster

    Energy Technology Data Exchange (ETDEWEB)

    Zambrano A, F.; Guzman R, J.; Paredes G, L.; Delfin L, A. [Instituto Nacional de Investigaciones Nucleares, A.P. 18-1027, 11801 Mexico D.F. (Mexico)

    1997-07-01

    The SMART test of Drosophila melanogaster was used to quantify the effect over the somatic mutation and recombination induced by thermal and fast neutrons at the TRIGA Mark III reactor of the ININ at the power of 300 k W for times of 30, 60 and 120 minutes with total equivalent doses respectively of 20.8, 41.6 and 83.2 Sv. A linear relation between the radiation equivalent dose and the frequency of the genetic effects such as mutation and recombination was observed. The obtained results allow to conclude that SMART is a sensitive system to the induced damage by neutrons, so this can be used for studying its biological effects. (Author)

  18. An?lisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial

    OpenAIRE

    L?pez, Greizy; Gelvez, Nancy Yaneth; Urrego, Luisa Fernanda; Florez, Silvia; Medina, David; Rodr?guez, Vicente; Tamayo, Marta Luc?a

    2014-01-01

    Objective: To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colom?bia suffering from RP and sensorineural deafness. Materials and methods:Exon 13 of USH2A gene was directly sequenced in all subjects selected for the study. Results: In this work, the 2299delG mutation was only observed in subjects suffering from Usher syndrome type II while the C759F mutation was not detected in any subject.

  19. Selección preliminar de plantas de arroz con resistencia vertical A pyricularia oryzae Cav por inducción de mutaciones (ING

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    A Cruz

    2016-03-01

    Full Text Available Seeds of rice Oryza sativa L. cv. CR-1113 susceptible to blast disease Pyricularia oryzae Cav. Were subjected to gamma radiation with 60Co using doses of 15 and 20 krads to obtain and select mutant plants with vertical resistance to blast. A total of 80.000 rice plants per treatment were individually evaluated in the second mutant generation (M2 at tillering and panicle emergence. Vertical resistance was observed in 47 and 8 plants from the 15 and 20 krads treatments respectively.

  20. Metabolic alterations, HFE gene mutations and atherogenic lipoprotein modifications in patients with primary iron overload.

    Science.gov (United States)

    Meroño, Tomás; Brites, Fernando; Dauteuille, Carolane; Lhomme, Marie; Menafra, Martín; Arteaga, Alejandra; Castro, Marcelo; Saez, María Soledad; Ballerga, Esteban González; Sorroche, Patricia; Rey, Jorge; Lesnik, Philippe; Sordá, Juan Andrés; Chapman, M John; Kontush, Anatol; Daruich, Jorge

    2015-05-01

    Iron overload (IO) has been associated with glucose metabolism alterations and increased risk of cardiovascular disease (CVD). Primary IO is associated with mutations in the HFE gene. To which extent HFE gene mutations and metabolic alterations contribute to the presence of atherogenic lipoprotein modifications in primary IO remains undetermined. The present study aimed to assess small, dense low-density lipoprotein (LDL) levels, chemical composition of LDL and high-density lipoprotein (HDL) particles, and HDL functionality in IO patients. Eighteen male patients with primary IO and 16 sex- and age-matched controls were recruited. HFE mutations (C282Y, H63D and S65C), measures of insulin sensitivity and secretion (calculated from the oral glucose tolerance test), chemical composition and distribution profile of LDL and HDL subfractions (isolated by gradient density ultracentrifugation) and HDL functionality (as cholesterol efflux and antioxidative activity) were studied. IO patients compared with controls exhibited insulin resistance (HOMA-IR (homoeostasis model assessment-estimated insulin resistance): +93%, PHFE genotypes. C282Y homozygotes (n=7) presented a reduced β-cell function and insulin secretion compared with non-C282Y patients (n=11) (-58% and -73%, respectively, PHFE gene mutations are involved in the presence of atherogenic lipoprotein modifications in primary IO. To what extent such alterations could account for an increase in CVD risk remains to be determined.

  1. A Mouse Model of Cardiomyopathy Induced by Mutations in the Hemochromatosis HFE Gene.

    Science.gov (United States)

    Djemai, Haidar; Thomasson, Rémi; Trzaskus, Yvan; Mougenot, Nathalie; Meziani, Amira; Toussaint, Jean-François; Noirez, Philippe; Vitiello, Damien

    2017-07-01

    The heart is 1 of the organs most affected by hereditary hemochromatosis (HH). The clinical impact of cardiomyopathy in patients with HH requires a particular diagnosis and less invasive treatments. We developed a model of cardiomyopathy in knockout (KO) mice for the high-Fe (HFE) gene and assessed left ventricular (LV) function and structure from 7-20 months. Male wild-type (WT) heterozygous and KO SV129 mice for the HFE gene were used in this study. Twenty-four mice were used to assess LV function and structure by echocardiography at 7, 14, 18, and 20 months. Evaluations of LV function and structure and myocardial fibrosis were performed at 7 and 20 months. The percent decrease of LV thickness-to-radius ratio between 7 and 20 months was higher in KO mice compared with WT mice (-30.2% ± 5.3% vs -10.5% ± 4.9%; P HFE-related hemochromatosis. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  2. Mutaciones en el gen regulador de la conductancia transmembranal de la fibrosis quística en tres países latinoamericanos

    OpenAIRE

    Restrepo, CM; Pineda, L.; Gómez, Y.; González, A.; Silva, CT; Villalobos, MC.; Morales, A.; Barrera-Saldaña, H.

    2011-01-01

    La Fibrosis Quística (FQ) es la enfermedad autosómica recesiva más común en la población caucásica, es causada por la alteración del gen regulador de la conductancia transmembranal de la Fibrosis Quística (CFTR), descrito por primera vez en 1.989, hasta el momento han
    sido descritas más de 500 mutaciones, la principal es la mutación DF508, una deleción de tres pares de bases (3 pb), la cual resulta en la pérdida de un residuo de fenilalanina en la posición 508 de la proteína, esta ...

  3. Iron regulation of hepcidin despite attenuated Smad1,5,8 signaling in mice without transferrin receptor 2 or Hfe

    Science.gov (United States)

    Corradini, Elena; Rozier, Molly; Meynard, Delphine; Odhiambo, Adam; Lin, Herbert Y.; Feng, Qi; Migas, Mary C.; Britton, Robert S.; Babitt, Jodie L.; Fleming, Robert E.

    2011-01-01

    Background & Aims HFE and transferrin receptor 2 (TFR2) are each necessary for the normal relationship between body iron status and liver hepcidin expression. In murine Hfe and Tfr2 knockout models of hereditary hemochromatosis (HH), signal transduction to hepcidin via the bone morphogenetic protein 6 (Bmp6)/Smad1,5,8 pathway is attenuated. We examined the effect of dietary iron on regulation of hepcidin expression via the Bmp6/Smad1,5,8 pathway using mice with targeted disruption of Tfr2, Hfe, or both genes. Methods Hepatic iron concentrations and mRNA expression of Bmp6 and hepcidin were compared with wild-type mice in each of the HH models on standard or iron-loading diets. Liver phospho-Smad (P-Smad)1,5,8 and Id1 mRNA levels were measured as markers of Bmp/Smad signaling. Results While Bmp6 expression was increased, liver hepcidin and Id1 expression were decreased in each of the HH models compared with wild-type mice. Each of the HH models also demonstrated attenuated P-Smad1,5,8 levels relative to liver iron status. Mice with combined Hfe/Tfr2 disruption were most affected. Dietary iron loading increased hepcidin and Id1 expression in each of the HH models. Compared with wild-type mice, HH mice demonstrated attenuated (Hfe knockout) or no increases in P-Smad1,5,8 levels in response to dietary iron loading. Conclusions These observations demonstrate that Tfr2 and Hfe are each required for normal signaling of iron status to hepcidin via Bmp6/Smad1,5,8 pathway. Mice with combined loss of Hfe and Tfr2 up-regulate hepcidin in response to dietary iron loading without increases in liver BMP6 mRNA or steady-state P-Smad1,5,8 levels. PMID:21745449

  4. Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.

    Science.gov (United States)

    Vieira, Fatima Mendonça Jorge; Nakhle, Maria Cristina; Abrantes-Lemos, Clarice Pires; Cançado, Eduardo Luiz Rachid; Reis, Vitor Manoel Silva dos

    2013-01-01

    Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations. An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR. Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors. Alcohol abuse, hepatitis C and estrogen intake are prevalent precipitating factors in our porphyria cutanea tarda population; however, hemochromatosis in itself can also contribute to the outbreak of porphyria cutanea tarda, which makes the research for HFE mutations necessary in these patients.

  5. HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.

    Science.gov (United States)

    Cantonwine, David; Hu, Howard; Téllez-Rojo, Martha Maria; Sánchez, Brisa N; Lamadrid-Figueroa, Héctor; Ettinger, Adrienne S; Mercado-García, Adriana; Hernández-Avila, Mauricio; Wright, Robert O

    2010-07-26

    Neonatal growth is a complex process involving genetic and environmental factors. Polymorphisms in the hemochromatosis (HFE) iron regulatory genes have been shown to modify transport and toxicity of lead which is known to affect birth weight. We investigated the role of HFE C282Y, HFE H63 D, and transferrin (TF) P570 S gene variants in modifying the association of lead and infant birthweight in a cohort of Mexican mother-infant pairs. Subjects were initially recruited between 1994-1995 from three maternity hospitals in Mexico City and 411 infants/565 mothers had archived blood available for genotyping. Multiple linear regression models, stratified by either maternal/infant HFE or TF genotype and then combined with interaction terms, were constructed examining the association of lead and birthweight after controlling for covariates. 3.1%, 16.8% and 17.5% of infants (N=390) and 1.9%, 14.5% and 18.9% of mothers (N=533) carried the HFE C282Y, HFE H63D, and TF P570 S variants, respectively. The presence of infant HFE H63 D variants predicted 110.3 g (95% CI -216.1, -4.6) decreases in birthweight while maternal HFE H63 D variants predicted reductions of 52.0 g (95% CI -147.3 to 43.2). Interaction models suggest that both maternal and infant HFE H63 D genotype may modify tibia lead's effect on infant birthweight in opposing ways. In our interaction models, maternal HFE H63 D variant carriers had a negative association between tibia lead and birthweight. These results suggest that the HFE H63 D genotype modifies lead's effects on infant birthweight in a complex fashion that may reflect maternal-fetal interactions with respect to the metabolism and transport of metals.

  6. HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.

    Science.gov (United States)

    Allen, Katrina J; Bertalli, Nadine A; Osborne, Nicholas J; Constantine, Clare C; Delatycki, Martin B; Nisselle, Amy E; Nicoll, Amanda J; Gertig, Dorota M; McLaren, Christine E; Giles, Graham G; Hopper, John L; Anderson, Gregory J; Olynyk, John K; Powell, Lawrie W; Gurrin, Lyle C

    2010-09-01

    Hemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is a genetic predisposition to iron overload and subsequent signs and symptoms of disease that potentially affects approximately 80,000 persons in Australia and almost 1 million persons in the United States. Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis. The optimal treatment regimen for those with SF concentrations above the normal range but aged 40-69 years. An HFE-stratified random sample of 1438 participants including all C282Y homozygotes with iron studies 12 years apart were examined by physicians blinded to participants' HFE genotype. All previously undiagnosed C282Y homozygotes (35 male, 67 female) and all HFE wild-types (131 male, 160 female) with baseline and follow-up SF concentrations age when disease would be expected to have developed. These observations have implications for the management of C282Y homozygotes.

  7. Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in the HFE Gene

    Directory of Open Access Journals (Sweden)

    Marcin Luszczyk

    2017-01-01

    Full Text Available Iron overload resulting from the mutation of genes involved in iron metabolism or excess dietary intake has been reported to negatively influence human physical performance. The aim of this study was to test the hypothesis that adolescents bearing a hemochromatosis gene (HFE mutation in contrast to adults with the same mutation will not experience iron accumulation and their aerobic capacity will be similar to that of age-matched controls. Thirteen boys participated in the study. Seven of them are carriers of H63D mutation in the HFE gene and six were wild type. Fitness levels were assessed using the cardiopulmonary exercise test. In addition, iron status and inflammatory markers were determined. We observed that cardiovascular fitness was significantly lower in the group bearing the HFE mutation compared to the control group. Moreover, the HFE mutation group achieved lower maximal power output compared to the control group. There were no differences in blood ferritin concentrations between the two groups which indicates similar amounts of stored iron. Obtained data do not confirm our hypothesis. On the contrary, it was demonstrated that HFE mutation is associated with a lower level of aerobic capacity, even in the absence of iron accumulation.

  8. Serum hepcidin levels, iron status, and HFE gene alterations during the first year of life in healthy Spanish infants.

    Science.gov (United States)

    Aranda, Nuria; Bedmar, Cristina; Arija, Victoria; Jardí, Cristina; Jimenez-Feijoo, Rosa; Ferré, Natalia; Tous, Monica

    2018-06-01

    The aims of this study were to describe hepcidin levels and to assess their associations with iron status and the main variants in the HFE gene in healthy and full-term newborns during the first year of life, as a longitudinal study conducted on 140 infants. Anthropometric and biochemical parameters, hepcidin, hemoglobin (Hb), serum ferritin (SF), transferrin saturation (TS), mean corpuscular volume (MCV), and C-reactive protein (CRP), were assessed in 6- and 12-month-olds. Infants were genotyped for the three main HFE variants: C282Y, H63D, and S65C. Hepcidin levels increased from 6 to 12 months of age (43.7 ± 1.5 to 52.0 ± 1.5 ng/mL; p HFE gene (p = 0.046 and p = 0.048 in 6- and 12-month-olds, respectively). However, this association was not found in HFE-alteration-carrying infants. Hepcidin levels increased in healthy infants during the first year of life and were positively associated with iron levels only in infants with wild-type HFE gene, a situation that requires further investigation.

  9. Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort

    Directory of Open Access Journals (Sweden)

    Morgadinho Ana S

    2006-07-01

    Full Text Available Abstract Background Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD and Parkinson diseases (PD. Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886, and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE variants with neurodegenerative diseases, such as AD and PD with conflicting results. Methods Genotypes were analysed for the two most common variants of HFE in a series of 130 AD, 55 Mild Cognitive Impairment (MCI and 132 PD patients. Additionally, a series of 115 healthy age-matched controls was also screened. Results A statistically significant association was found in the PD group when compared to controls, showing that the presence of the C282Y variant allele may confer higher risk for developing the disease. Conclusion Taken together these results suggest that the common variants in HFE may be a risk factor for PD, but not for AD in the Portuguese population.

  10. Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in the HFE Gene.

    Science.gov (United States)

    Luszczyk, Marcin; Kaczorowska-Hac, Barbara; Milosz, Ewa; Adamkiewicz-Drozynska, Elzbieta; Ziemann, Ewa; Laskowski, Radoslaw; Flis, Damian; Rokicka-Hebel, Magdalena; Antosiewicz, Jedrzej

    2017-01-01

    Iron overload resulting from the mutation of genes involved in iron metabolism or excess dietary intake has been reported to negatively influence human physical performance. The aim of this study was to test the hypothesis that adolescents bearing a hemochromatosis gene (HFE) mutation in contrast to adults with the same mutation will not experience iron accumulation and their aerobic capacity will be similar to that of age-matched controls. Thirteen boys participated in the study. Seven of them are carriers of H63D mutation in the HFE gene and six were wild type. Fitness levels were assessed using the cardiopulmonary exercise test. In addition, iron status and inflammatory markers were determined. We observed that cardiovascular fitness was significantly lower in the group bearing the HFE mutation compared to the control group. Moreover, the HFE mutation group achieved lower maximal power output compared to the control group. There were no differences in blood ferritin concentrations between the two groups which indicates similar amounts of stored iron. Obtained data do not confirm our hypothesis. On the contrary, it was demonstrated that HFE mutation is associated with a lower level of aerobic capacity, even in the absence of iron accumulation.

  11. The Study of HFE Genotypes and Its Expression Effect on Iron Status of Iranian Haemochromatosis, Iron Deficiency Anemia Patients, Iron-Taker and Non Iron-Taker Controls.

    Science.gov (United States)

    Beiranvand, Elham; Abediankenari, Saeid; Rostamian, Mosayeb; Beiranvand, Behnoush; Naazeri, Saeed

    2015-01-01

    The role of HFE gene mutations or its expression in regulation of iron metabolism of hereditary haemochromatosis (HH) patients is remained controversial. Therefore here the correlation between two common HFE genotype (p.C282Y, p.H63D) and HFE gene expression with iron status in HH, iron deficiency anemia (IDA) and healthy Iranian participants was studied. For this purpose genotype determination was done by polymerase chain reaction--restriction fragment length polymorphism (PCR-RFLP). Real-Time PCR was applied for evaluation of HFE gene expression. Biochemical parameters and iron consumption were also assessed. Homozygote p.H63D mutation was seen in all HH patients and p.C282Y was not observed in any member of the population. A significant correlation was observed between serum ferritin (SF) level and gender or age of HH patients. p.H63D homozygote was seen to be able to significantly increase SF and transferrin saturation (TS) level without affecting on liver function. Our results also showed that iron consumption affects on TS level increasing. HFE gene expression level of IDA patients was significantly higher than other groups. Also the HFE gene expression was negatively correlated with TS. Finally, the main result of our study showed that loss of HFE function in HH is not derived from its gene expression inhibition and much higher HFE gene expression might lead to IDA. However we propose repeating of the study for more approval of our finding.

  12. Regulation of HFE expression by poly(ADP-ribose) polymerase-1 (PARP1) through an inverted repeat DNA sequence in the distal promoter.

    Science.gov (United States)

    Pelham, Christopher; Jimenez, Tamara; Rodova, Marianna; Rudolph, Angela; Chipps, Elizabeth; Islam, M Rafiq

    2013-12-01

    Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron overload among Caucasians of northern European descent. Over 85% of all cases with HH are due to mutations in the hemochromatosis protein (HFE) involved in iron metabolism. Although the importance in iron homeostasis is well recognized, the mechanism of sensing and regulating iron absorption by HFE, especially in the absence of iron response element in its gene, is not fully understood. In this report, we have identified an inverted repeat sequence (ATGGTcttACCTA) within 1700bp (-1675/+35) of the HFE promoter capable to form cruciform structure that binds PARP1 and strongly represses HFE promoter. Knockdown of PARP1 increases HFE mRNA and protein. Similarly, hemin or FeCl3 treatments resulted in increase in HFE expression by reducing nuclear PARP1 pool via its apoptosis induced cleavage, leading to upregulation of the iron regulatory hormone hepcidin mRNA. Thus, PARP1 binding to the inverted repeat sequence on the HFE promoter may serve as a novel iron sensing mechanism as increased iron level can trigger PARP1 cleavage and relief of HFE transcriptional repression. © 2013.

  13. Evidence for the Influence of the Iron Regulatory MHC Class I Molecule HFE on Tumor Progression in Experimental Models and Clinical Populations

    Science.gov (United States)

    Weston, Cody; Connor, James

    2014-01-01

    Proteins involved in iron regulation are modifiers of cancer risk and progression. Of these, the HFE protein (high iron gene and its protein product) is of particular interest because of its interaction with both iron handling and immune function and the high rate of genetic polymorphisms resulting in a mutant protein. Clinical studies suggest that HFE polymorphisms increase the risk of certain cancers, but the inconsistent outcomes suggest a more nuanced effect, possibly interacting with other genetic or environmental factors. Some basic science research has been conducted to begin to understand the implications of variant HFE genotype on cancer, but the story is far from complete. In particular, putative mechanisms exist for HFE to affect tumor progression through its role in iron handling and its major histocompatibility complex class I structural features. In this review, the current understanding of the role of HFE in cancer is described and models for future directions are identified. PMID:25520556

  14. Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in southern Italy.

    Science.gov (United States)

    Greco, Valentina; De Marco, Elvira Valeria; Rocca, Francesca Emanuela; Annesi, Ferdinanda; Civitelli, Donatella; Provenzano, Giovanni; Tarantino, Patrizia; Scornaienchi, Vittorio; Pucci, Franco; Salsone, Maria; Novellino, Fabiana; Morelli, Maurizio; Paglionico, Sandra; Gambardella, Antonio; Quattrone, Aldo; Annesi, Grazia

    2011-06-01

    Iron overload may lead to neurodegenerative disorders such as Parkinson's disease (PD) and alterations of iron-related genes might be involved in the pathogenesis of this disease. The gene of haemochromatosis (HFE) encodes the HFE protein which interacts with the transferrin receptor (TFR), lowering its affinity for iron-bound transferrin (TF). We examined four known polymorphisms, C282Y and H63D in the HFE gene, G258S in the TF gene and S82G in the TFR gene, in 181 sporadic PD patients and 180 controls from Southern Italy to investigate their possible role in susceptibility to PD. No significant differences were found in genotype and allele frequencies between PD and controls for all the polymorphisms studied, suggesting that these variants do not contribute significantly to the risk of PD.

  15. [CCR5, CCR2, apoe, p53, ITGB3 and HFE gene polymorphism in Western Siberia long-livers].

    Science.gov (United States)

    Ivanoshchuk, D E; Mikhaĭlova, S V; Kulikov, I V; Maksimov, V N; Voevoda, M I; Romashchenko, A G

    2012-01-01

    In order to estimate the distribution of some polymorphisms for the CCR5, CCR2, apoE, p53, ITGB3, and HFE genes in Russian long-livers from Western Siberia, a sample of 271 individuals (range 90-105 years) was examined. It was demonstrated that carriage of the delta32 polymorphism for the CCR5 gene, V64/polymorphism for the CCR2 gene, e2/e3/e4 for the apoE gene, L33P for the ITGB3 gene, as well as H63D and S65C polymorphisms for the HFE gene does not influence on predisposition to the longevity; carriage of the 282 Y allele for the HFE gene negatively influences on the longevity; carriage of the heterozygous genotype for the R72P polymorphism for the p53 gene correlates with the longevity of elderly people.

  16. Programa nacional de prevención y consejería genética del retinoblastoma mediante detección de mutaciones en el gen RB.

    Directory of Open Access Journals (Sweden)

    H. Frayle

    2001-07-01

    una la doble mutación inactivante del gen Rb, exclusivamente somática en los esporádicos y germinal más somática en los hereditarios. Esta investigacin tuvo como objetivo caracterizar las mutaciones en el gen Rb mediante secuenciación directa y evaluar su utilidad en la consejería genética.

  17. HFE gene variants, iron, and lipids: a novel connection in Alzheimer’s disease

    Science.gov (United States)

    Ali-Rahmani, Fatima; Schengrund, Cara-Lynne; Connor, James R.

    2014-01-01

    Iron accumulation and associated oxidative stress in the brain have been consistently found in several neurodegenerative diseases. Multiple genetic studies have been undertaken to try to identify a cause of neurodegenerative diseases but direct connections have been rare. In the iron field, variants in the HFE gene that give rise to a protein involved in cellular iron regulation, are associated with iron accumulation in multiple organs including the brain. There is also substantial epidemiological, genetic, and molecular evidence of disruption of cholesterol homeostasis in several neurodegenerative diseases, in particular Alzheimer’s disease (AD). Despite the efforts that have been made to identify factors that can trigger the pathological events associated with neurodegenerative diseases they remain mostly unknown. Because molecular phenotypes such as oxidative stress, synaptic failure, neuronal loss, and cognitive decline, characteristics associated with AD, have been shown to result from disruption of a number of pathways, one can easily argue that the phenotype seen may not arise from a linear sequence of events. Therefore, a multi-targeted approach is needed to understand a complex disorder like AD. This can be achieved only when knowledge about interactions between the different pathways and the potential influence of environmental factors on them becomes available. Toward this end, this review discusses what is known about the roles and interactions of iron and cholesterol in neurodegenerative diseases. It highlights the effects of gene variants of HFE (H63D- and C282Y-HFE) on iron and cholesterol metabolism and how they may contribute to understanding the etiology of complex neurodegenerative diseases. PMID:25071582

  18. Using iron studies to predict HFE mutations in New Zealand: implications for laboratory testing.

    Science.gov (United States)

    O'Toole, Rebecca; Romeril, Kenneth; Bromhead, Collette

    2017-04-01

    The diagnosis of hereditary haemochromatosis (HH) is not straightforward because symptoms are often absent or non-specific. Biochemical markers of iron-overloading may be affected by other conditions. To measure the correlation between iron studies and HFE genotype to inform evidence-based recommendations for laboratory testing in New Zealand. Results from 2388 patients genotyped for C282Y, H63D and S65C in Wellington, New Zealand from 2007 to 2013 were compared with their biochemical phenotype as quantified by serum ferritin (SF), transferrin saturation (TS), serum iron (SI) and serum transferrin (ST). The predictive power of these markers was evaluated by receiver operator characteristic (ROC) curve analysis, and if a statistically significant association for a variable was seen, sensitivity, specificity and predictive values were calculated. Test ordering patterns showed that 62% of HFE genotyping tests were ordered because of an elevated SF alone and only 11% of these had a C-reactive protein test to rule out an acute phase reaction. The association between SF and significant HFE genotypes SF was low. However, TS values ≥45% predicted HH mutations with the highest sensitivity and specificity. A SF of >1000 µg/L was found in one at-risk patient (C282Y homozygote) who had a TS <45%. Our analysis highlights the need for clear guidelines for investigation of hyperferritinaemia and HH in New Zealand. Using our findings, we developed an evidence-based laboratory testing algorithm based on a TS ≥45%, a SF ≥1000 µg/L and/or a family history of HH which identified all C282Y homozygotes in this study. © 2016 Royal Australasian College of Physicians.

  19. HFE gene variants, iron, and lipids: a novel connection in Alzheimer's disease.

    Science.gov (United States)

    Ali-Rahmani, Fatima; Schengrund, Cara-Lynne; Connor, James R

    2014-01-01

    Iron accumulation and associated oxidative stress in the brain have been consistently found in several neurodegenerative diseases. Multiple genetic studies have been undertaken to try to identify a cause of neurodegenerative diseases but direct connections have been rare. In the iron field, variants in the HFE gene that give rise to a protein involved in cellular iron regulation, are associated with iron accumulation in multiple organs including the brain. There is also substantial epidemiological, genetic, and molecular evidence of disruption of cholesterol homeostasis in several neurodegenerative diseases, in particular Alzheimer's disease (AD). Despite the efforts that have been made to identify factors that can trigger the pathological events associated with neurodegenerative diseases they remain mostly unknown. Because molecular phenotypes such as oxidative stress, synaptic failure, neuronal loss, and cognitive decline, characteristics associated with AD, have been shown to result from disruption of a number of pathways, one can easily argue that the phenotype seen may not arise from a linear sequence of events. Therefore, a multi-targeted approach is needed to understand a complex disorder like AD. This can be achieved only when knowledge about interactions between the different pathways and the potential influence of environmental factors on them becomes available. Toward this end, this review discusses what is known about the roles and interactions of iron and cholesterol in neurodegenerative diseases. It highlights the effects of gene variants of HFE (H63D- and C282Y-HFE) on iron and cholesterol metabolism and how they may contribute to understanding the etiology of complex neurodegenerative diseases.

  20. Análisis de isonimia en una muestra de padres de pacientes antioqueños con fibrosis quística

    Directory of Open Access Journals (Sweden)

    Astrid Rodríguez-Acevedo

    2012-03-01

    Conclusiones. Nuestros resultados sugieren un alto porcentaje de apellidos compartidos, lo cual se ve reflejado en los valores de isonimia. Similarmente, la presencia de un número reducido de apellidos en un porcentaje importante de la población se ve reflejado en los valores Fr obtenidos para ambos análisis, los cuales sugieren homogeneidad. Así, se espera un bajo número de mutaciones CFTR en los niños antioqueños con fibrosis quística.   DOI: http://dx.doi.org/10.7705/biomedica.v32i1.605

  1. Hepcidin regulation in wild-type and Hfe knockout mice in response to alcohol consumption: evidence for an alcohol-induced hypoxic response.

    Science.gov (United States)

    Heritage, Mandy L; Murphy, Therese L; Bridle, Kim R; Anderson, Gregory J; Crawford, Darrell H G; Fletcher, Linda M

    2009-08-01

    Expression of Hamp1, the gene encoding the iron regulatory peptide hepcidin, is inappropriately low in HFE-associated hereditary hemochromatosis and Hfe knockout mice (Hfe(-/-)). Since chronic alcohol consumption is also associated with disturbances in iron metabolism, we investigated the effects of alcohol consumption on hepcidin mRNA expression in Hfe(-/-) mice. Hfe(-/-) and C57BL/6 (wild-type) mice were pair-fed either an alcohol liquid diet or control diet for up to 8 weeks. The mRNA levels of hepcidin and ferroportin were measured at the mRNA level by RT-PCR and protein expression of hypoxia inducible factor-1 alpha (HIF-1alpha) was measured by western blot. Hamp1 mRNA expression was significantly decreased and duodenal ferroportin expression was increased in alcohol-fed wild-type mice at 8 weeks. Time course experiments showed that the decrease in hepcidin mRNA was not immediate, but was significant by 4 weeks. Consistent with the genetic defect, Hamp1 mRNA was decreased and duodenal ferroportin mRNA expression was increased in Hfe(-/-) mice fed on the control diet compared with wild-type animals and alcohol further exacerbated these effects. HIF-1alpha protein levels were elevated in alcohol-fed wild-type animals compared with controls. Alcohol may decrease Hamp1 gene expression independently of the HFE pathway possibly via alcohol-induced hypoxia.

  2. [Analysis of H63D mutation in hemochromatosis (HFE) gene in populations of central Eurasia].

    Science.gov (United States)

    Khusainova, R I; Khusnutdinova, N N; Litvinov, S S; Khusnutdinova, E K

    2013-02-01

    An analysis of the frequency of H63D (c. 187C>G) mutations in the HFEgene in 19 populations from Central Eurasia demonstrated that the distribution of the mutation in the region of interest was not uniform and that there were the areas of H63D accumulation. The investigation of three polymorphic variants, c.340+4T>C (rs2071303, IVS2(+4)T>C), c.893-44T>C (rs1800708, IVS4(-44)T>C), and c.1007-47G>A (rs1572982, IVS5(-47)A>G), in the HFE gene in individuals homozygous for H63D mutations in the HFE gene revealed the linkage of H63D with three haplotypes, *CTA, *TG, and *TTA. These findings indicated the partial spread of the mutation in Central Eurasia from Western Europe, as well as the possible repeated appearance of the mutation on the territory on interest.

  3. Heterozygous Hfe gene deletion leads to impaired glucose homeostasis, but not liver injury in mice fed a high-calorie diet.

    Science.gov (United States)

    Britton, Laurence; Jaskowski, Lesley; Bridle, Kim; Santrampurwala, Nishreen; Reiling, Janske; Musgrave, Nick; Subramaniam, V Nathan; Crawford, Darrell

    2016-06-01

    Heterozygous mutations of the Hfe gene have been proposed as cofactors in the development and progression of nonalcoholic fatty liver disease (NAFLD). Homozygous Hfe deletion previously has been shown to lead to dysregulated hepatic lipid metabolism and accentuated liver injury in a dietary mouse model of NAFLD We sought to establish whether heterozygous deletion of Hfe is sufficient to promote liver injury when mice are exposed to a high-calorie diet (HCD). Eight-week-old wild-type and Hfe(+/-) mice received 8 weeks of a control diet or HCD Liver histology and pathways of lipid and iron metabolism were analyzed. Liver histology demonstrated that mice fed a HCD had increased NAFLD activity score (NAS), steatosis, and hepatocyte ballooning. However, liver injury was unaffected by Hfe genotype. Hepatic iron concentration (HIC) was increased in Hfe(+/-) mice of both dietary groups. HCD resulted in a hepcidin-independent reduction in HIC Hfe(+/-) mice demonstrated raised fasting serum glucose concentrations and HOMA-IR score, despite unaltered serum adiponectin concentrations. Downstream regulators of hepatic de novo lipogenesis (pAKT, SREBP-1, Fas, Scd1) and fatty acid oxidation (AdipoR2, Pparα, Cpt1) were largely unaffected by genotype. In summary, heterozygous Hfe gene deletion is associated with impaired iron and glucose metabolism. However, unlike homozygous Hfe deletion, heterozygous gene deletion did not affect lipid metabolism pathways or liver injury in this model. © 2016 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society.

  4. Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

    Science.gov (United States)

    Grosse, Scott D; Gurrin, Lyle C; Bertalli, Nadine A; Allen, Katrina J

    2018-04-01

    Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis. Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes is likely to develop severe liver disease during his lifetime unless iron overload is detected early and treated. New evidence from a randomized controlled trial of treatment allows for evidence-based management of presymptomatic patients. Although population screening for HFE C282Y homozygosity faces multiple barriers, a potentially effective strategy for increasing the early detection and prevention of clinical iron overload and severe disease is to include HFE C282Y homozygosity in lists of medically actionable gene variants when reporting the results of genome or exome sequencing.

  5. Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population

    Directory of Open Access Journals (Sweden)

    Simonas Juzėnas

    2016-01-01

    Conclusions: Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women.

  6. A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.

    Science.gov (United States)

    Padula, Maria Carmela; Martelli, Giuseppe; Larocca, Marilena; Rossano, Rocco; Olivieri, Attilio

    2014-09-01

    HFE-hemochromatosis (HH) is an autosomal disease characterized by excessive iron absorption. Homozygotes for H63D variant, and still less H63D heterozygotes, generally do not express HH phenotype. The data collected in our previous study in the province of Matera (Basilicata, Italy) underlined that some H63D carriers showed altered iron metabolism, without additional factors. In this study, we selected a cohort of 10/22 H63D carriers with severe biochemical iron overload (BIO). Additional analysis was performed for studying HFE exons, exon-intron boundaries, and untranslated regions (UTRs) by performing DNA extraction, PCR amplification and sequencing. The results showed a novel substitution (NM_000410.3:c.847C>T) in a patient exon 4 (GenBankJQ478433); it introduces a premature stop-codon (PTC). RNA extraction and reverse-transcription were also performed. Quantitative real-time PCR was carried out for verifying if our aberrant mRNA is targeted for nonsense-mediated mRNA decay (NMD); we observed that patient HFE mRNA was expressed much less than calibrator, suggesting that the mutated HFE protein cannot play its role in iron metabolism regulation, resulting in proband BIO. Our finding is the first evidence of a variation responsible for a PTC in iron cycle genes. The genotype-phenotype correlation observed in our cases could be related to the additional mutation. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.

    Science.gov (United States)

    Del-Castillo-Rueda, Alejandro; Moreno-Carralero, María-Isabel; Alvarez-Sala-Walther, Luis-Antonio; Cuadrado-Grande, Nuria; Enríquez-de-Salamanca, Rafael; Méndez, Manuel; Morán-Jiménez, María-Josefa

    2011-03-01

    The most common form of hemochromatosis is caused by mutations in the HFE gene. Rare forms of the disease are caused by mutations in other genes. We present a patient with hyperferritinemia and iron overload, and facial flushing. Magnetic resonance imaging was performed to measure hepatic iron overload, and a molecular study of the genes involved in iron metabolism was undertaken. The iron overload was similar to that observed in HFE hemochromatosis, and the patient was double heterozygous for two novel mutations, c.-20G>A and c.718A>G (p.K240E), in the HFE and ferroportin (FPN1 or SLC40A1) genes, respectively. Hyperferritinemia and facial flushing improved after phlebotomy. Two of the patient's children were also studied, and the daughter was heterozygous for the mutation in the SLC40A1 gene, although she did not have hyperferritinemia. The patient presented a mild iron overload phenotype probably because of the two novel mutations in the HFE and SLC40A1 genes. © 2011 John Wiley & Sons A/S.

  8. Implicating the H63D polymorphism in the HFE gene in increased incidence of solid cancers: a meta-analysis.

    Science.gov (United States)

    Shen, L L; Gu, D Y; Zhao, T T; Tang, C J; Xu, Y; Chen, J F

    2015-10-29

    A number of previous studies have demonstrated that the HFE H63D polymorphism is associated with increased risk of incidence multiple types of cancer, including colorectal cancer, breast cancer, liver cancer, pancreatic cancer, and gynecological malignant tumors. However, the clinical outcomes were inconsistent. Therefore, this meta-analysis was conducted to summarize the effect of the H63D variant on the incidence of solid tumor. PubMed and EMBASE databases were searched for articles associating the HFE H63D polymorphism with cancer risk. The relationships were evaluated by calculating the pooled odds ratios (ORs) with 95% confidence intervals (CIs). A total of 28 studies, including 7728 cancer cases and 11,895 controls, were identified. Statistically significant associations were identified between the HFE H63D polymorphism and solid cancer risk (CG vs CC, OR = 1.14, 95%CI = 1.07-1.23, P HFE H63D polymorphism may play a critical role in the increased aggressiveness of hepatocellular carcinoma and pancreatic cancer.

  9. Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

    DEFF Research Database (Denmark)

    Milman, Nils; Koefoed, Pernille; Pedersen, Palle

    2003-01-01

    AIM: To assess the frequency of the C282Y and H63D mutations on the HFE gene in Danish patients with clinical hereditary haemochromatosis initially diagnosed by phenotypic methods. METHODS: In the period 1950-1985, an epidemiological survey in Denmark identified 179 patients with clinical...... diagnosis of clinical idiopathic haemochromatosis was made before blood samples were taken for HFE genotyping. The total series consisted of 58 patients (40 men and 18 women) with a median age of 60 yrs (range 18-74). HFE genotyping was performed by the polymerase chain reaction (PCR) technique. RESULTS...

  10. HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

    Science.gov (United States)

    Gurrin, Lyle C; Bertalli, Nadine A; Dalton, Gregory W; Osborne, Nicholas J; Constantine, Clare C; McLaren, Christine E; English, Dallas R; Gertig, Dorota M; Delatycki, Martin B; Nicoll, Amanda J; Southey, Melissa C; Hopper, John L; Giles, Graham G; Anderson, Gregory J; Olynyk, John K; Powell, Lawrie W; Allen, Katrina J

    2009-07-01

    The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, completed questionnaires and gave blood. Clinical examinations were blinded to HFE genotype. A total of 180 (84 males) clinically examined C282Y/H63D participants were compared with 330 (149 males) controls with neither HFE mutation; 132 (65 males) and 270 (122 males), respectively, had serum iron measures at both timepoints. Mean serum ferritin (SF) and transferrin saturation (TS) were significantly greater for male and female compound heterozygotes than for wild-types at baseline and follow-up (all P females who were premenopausal at baseline, where SF was similar in both genotype groups. For subjects with serum measures from both baseline and follow-up, mean SF and TS levels did not change significantly for men or for postmenopausal women, but for premenopausal women SF levels increased from 43 to 109 microg/L for compound heterozygotes and from 35 to 64 microg/L for wild-types (both P female compound heterozygotes had a similar prevalence of hemochromatosis-related morbidity to wild-types. One of 82 males and zero of 95 females had documented iron overload-related disease. For male compound heterozygotes, mean iron indices do not change during middle age but for female compound heterozygotes menopause results in increased mean SF. Although compound heterozygotes might maintain elevated iron indices during middle age, documented iron overload-related disease is rare.

  11. Effect of HFE gene polymorphism on sustained virological response in patients with chronic hepatitis C and elevated serum ferritin

    Directory of Open Access Journals (Sweden)

    Silvia Coelho-Borges

    2012-03-01

    Full Text Available CONTEXT: Abnormal serum ferritin levels are found in approximately 20%-30% of the patients with chronic hepatitis C and are associated with a lower response rate to interferon therapy. OBJECTIVE: To determine if the presence of HFE gene mutations had any effect on the sustained virological response rate to interferon based therapy in chronic hepatitis C patients with elevated serum ferritin. METHODS: A total of 44 treatment naÏve patients with histologically demonstrated chronic hepatitis C, all infected with hepatitis C virus genotype non-1 (38 genotype 3; 6 genotype 2 and serum ferritin above 500 ng/mL were treated with interferon (3 MU, 3 times a week and ribavirin (1.000 mg, daily for 24 weeks. RESULTS: Sustained virological response was defined as negative qualitative HCV-RNA more than 24 weeks after the end of treatment. Serum HCV-RNA was measured by qualitative in house polymerase chain reaction with a limit of detection of 200 IU/mL. HFE gene mutation was detected using restriction-enzyme digestion with RsaI (C282Y mutation analysis and BclI (H63D mutation analysis in 16 (37% patients, all heterozygous (11 H63D, 2 C282Y and 3 both. Sustained virological response was achieved in 0 of 16 patients with HFE gene mutations and 11 (41% of 27 patients without HFE gene mutations (P = 0.002; exact Fisher test. CONCLUSION: Heterozigozity for H63D and/or C282Y HFE gene mutation predicts absence of sustained virological response to combination treatment with interferon and ribavirin in patients with chronic hepatitis C, non-1 genotype and serum ferritin levels above 500 ng/mL.

  12. HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis.

    Science.gov (United States)

    Chen, Weidong; Zhao, Hua; Li, Tiegang; Yao, Hongliang

    2013-08-01

    The HFE gene has been suggested to play an important role in the pathogenesis of colorectal cancer. However, the results have been conflicting. In this study, we performed a meta-analysis to clarify the association of HFE gene C282Y variant with colorectal cancer. PubMed and Embase were retrieved to identify the potential literature. Pooled odds ratio (OR) with 95 % confidence interval (CI) was calculated using fixed- or random-effects model. A total of eight papers including nine studies (7,588 colorectal cancer cases and 81,571 controls) for HFE gene C282Y variant were included in the meta-analysis. The result indicated that HFE gene C282Y variant was significantly associated with colorectal cancer under recessive model (OR = 2.00, 95 % CI = 1.32-3.04), with no evidence of between-study heterogeneity (I (2) = 0.2 %, p = 0.432). Further subgroup analysis by number of cases suggested the effect was significant in studies with more than 500 cases (OR = 2.51, 95 % CI = 1.58-3.98, I (2) = 0.0 %, p = 0.921), but not in studies with less than 500 cases (OR = 0.75, 95 % CI = 0.28-1.97, I (2) = 0.0 %, p = 0.622). The current meta-analysis supported the positive association of HFE gene C282Y variant with colorectal cancer. Further large-scale studies with the consideration for gene-gene/gene-environment interactions should be conducted to investigate the association.

  13. Effect of HFE gene polymorphism on sustained virological response in patients with chronic hepatitis C and elevated serum ferritin.

    Science.gov (United States)

    Coelho-Borges, Silvia; Cheinquer, Hugo; Wolff, Fernando Herz; Cheinquer, Nelson; Krug, Luciano; Ashton-Prolla, Patricia

    2012-01-01

    Abnormal serum ferritin levels are found in approximately 20%-30% of the patients with chronic hepatitis C and are associated with a lower response rate to interferon therapy. To determine if the presence of HFE gene mutations had any effect on the sustained virological response rate to interferon based therapy in chronic hepatitis C patients with elevated serum ferritin. A total of 44 treatment naÏve patients with histologically demonstrated chronic hepatitis C, all infected with hepatitis C virus genotype non-1 (38 genotype 3; 6 genotype 2) and serum ferritin above 500 ng/mL were treated with interferon (3 MU, 3 times a week) and ribavirin (1.000 mg, daily) for 24 weeks. Sustained virological response was defined as negative qualitative HCV-RNA more than 24 weeks after the end of treatment. Serum HCV-RNA was measured by qualitative in house polymerase chain reaction with a limit of detection of 200 IU/mL. HFE gene mutation was detected using restriction-enzyme digestion with RsaI (C282Y mutation analysis) and BclI (H63D mutation analysis) in 16 (37%) patients, all heterozygous (11 H63D, 2 C282Y and 3 both). Sustained virological response was achieved in 0 of 16 patients with HFE gene mutations and 11 (41%) of 27 patients without HFE gene mutations (P = 0.002; exact Fisher test). Heterozigozity for H63D and/or C282Y HFE gene mutation predicts absence of sustained virological response to combination treatment with interferon and ribavirin in patients with chronic hepatitis C, non-1 genotype and serum ferritin levels above 500 ng/mL.

  14. Mutation in HFE gene decreases manganese accumulation and oxidative stress in the brain after olfactory manganese exposure.

    Science.gov (United States)

    Ye, Qi; Kim, Jonghan

    2016-06-01

    Increased accumulation of manganese (Mn) in the brain is significantly associated with neurobehavioral deficits and impaired brain function. Airborne Mn has a high systemic bioavailability and can be directly taken up into the brain, making it highly neurotoxic. While Mn transport is in part mediated by several iron transporters, the expression of these transporters is altered by the iron regulatory gene, HFE. Mutations in the HFE gene are the major cause of the iron overload disorder, hereditary hemochromatosis, one of the prevalent genetic diseases in humans. However, whether or not HFE mutation modifies Mn-induced neurotoxicity has not been evaluated. Therefore, our goal was to define the role of HFE mutation in Mn deposition in the brain and the resultant neurotoxic effects after olfactory Mn exposure. Mice carrying the H67D HFE mutation, which is homologous to the H63D mutation in humans, and their control, wild-type mice, were intranasally instilled with MnCl2 with different doses (0, 0.2, 1.0 and 5.0 mg kg(-1)) daily for 3 days. Mn levels in the blood, liver and brain were determined using inductively-coupled plasma mass spectrometry (ICP-MS). H67D mutant mice showed significantly lower Mn levels in the blood, liver, and most brain regions, especially in the striatum, while mice fed an iron-overload diet did not. Moreover, mRNA expression of ferroportin, an essential exporter of iron and Mn, was up-regulated in the striatum. In addition, the levels of isoprostane, a marker of lipid peroxidation, were increased in the striatum after Mn exposure in wild-type mice, but were unchanged in H67D mice. Together, our results suggest that the H67D mutation provides decreased susceptibility to Mn accumulation in the brain and neurotoxicity induced by inhaled Mn.

  15. Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis.

    Science.gov (United States)

    Duarte, Tiago L; Caldas, Carolina; Santos, Ana G; Silva-Gomes, Sandro; Santos-Gonçalves, Andreia; Martins, Maria João; Porto, Graça; Lopes, José Manuel

    2017-04-01

    In hereditary hemochromatosis, iron deposition in the liver parenchyma may lead to fibrosis, cirrhosis and hepatocellular carcinoma. Most cases are ascribed to a common mutation in the HFE gene, but the extent of clinical expression is greatly influenced by the combined action of yet unidentified genetic and/or environmental modifying factors. In mice, transcription factor NRF2 is a critical determinant of hepatocyte viability during exposure to acute dietary iron overload. We evaluated if the genetic disruption of Nrf2 would prompt the development of liver damage in Hfe -/- mice (an established model of human HFE-hemochromatosis). Wild-type, Nrf2 -/- , Hfe -/- and double knockout (Hfe/Nrf2 -/- ) female mice on C57BL/6 genetic background were sacrificed at the age of 6 (young), 12-18 (middle-aged) or 24 months (old) for evaluation of liver pathology. Despite the parenchymal iron accumulation, Hfe -/- mice presented no liver injury. The combination of iron overload (Hfe -/- ) and defective antioxidant defences (Nrf2 -/- ) increased the number of iron-related necroinflammatory lesions (sideronecrosis), possibly due to the accumulation of toxic oxidation products such as 4-hydroxy-2-nonenal-protein adducts. The engulfment of dead hepatocytes led to a gradual accumulation of iron within macrophages, featuring large aggregates. Myofibroblasts recruited towards the injury areas produced substantial amounts of collagen fibers involving the liver parenchyma of double-knockout animals with increased hepatic fibrosis in an age-dependent manner. The genetic disruption of Nrf2 promotes the transition from iron accumulation (siderosis) to liver injury in Hfe -/- mice, representing the first demonstration of spontaneous hepatic fibrosis in the long term in a mouse model of hereditary hemochromatosis displaying mildly elevated liver iron. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  16. Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.

    Science.gov (United States)

    Kucinskas, Laimutis; Juzenas, Simonas; Sventoraityte, Jurgita; Cedaviciute, Ruta; Vitkauskiene, Astra; Kalibatas, Vytenis; Kondrackiene, Jurate; Kupcinskas, Limas

    2012-04-01

    HFE-hemochromatosis is a common autosomal recessive disease caused by HFE gene mutations and characterized as iron overload and failure of different organs. The aim of this study was to determine the prevalence of C282Y (c.845 G>A), H63D (c.187 C>G), and S65C (c.193A>T) alleles of HFE gene in the Lithuanian population. One thousand and eleven healthy blood donors of Lithuanian nationality were examined in four different ethnic Lithuanian regions to determine HFE gene alleles and genotype frequencies. The samples of DNA were analyzed for the presence of restriction fragment length polymorphism and validated by DNA sequencing. Among 1,011 blood donors tested, the frequency of C282Y, H63D, and S65C alleles were 2.6%, 15.9%, and 1.9%, respectively. One third of the tested subjects (n = 336) had at least one of the C282Y or H63D HFE gene mutations. The screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a genotype C282Y/C282Y or C282Y/H63D responsible for the development of HFE-hemochromatosis. The prevalence of C282Y mutation was significantly higher among the inhabitants of Zemaitija (Somogitia) at the Baltic Sea area (5.9%) in comparison to the regions of continental part of Lithuania (2.4% in Dzukija, 2.3% in Aukstaitija, and 2% in Suvalkija, p HFE gene mutations in ethnic Lithuanians showed that the frequencies of H63D, C282Y, and S65C of HFE gene alleles are similar to the other North-Eastern Europeans, especially in the Baltic region (Estonia, Latvia), Poland, and part of Russia (Moscow region).

  17. Review of advanced control rooms: Methodological considerations for the use of HFE guidelines

    International Nuclear Information System (INIS)

    O'Hara, J.M.

    1994-01-01

    Control rooms for advanced nuclear power plants use advanced human-system interface (HSI) technologies that may have significant implications for plant safety in that they will affect the operator's overall role in the system and the ways in which operators interact with the system. The US Nuclear Regulatory Commission (NRC) reviews HSIs to ensure that they are designed to accepted human factors engineering (HFE) principles. The principal review guidance, however, is more than ten-years old (US NRC, 1981). Accordingly, an Advanced HSI Design Review Guideline (DRG) was developed to provide criteria for these reviews. The DRG contains seven major sections: Information Display, User-System Interaction, Process Control and Input Devices, Alarms, Analysis and Decision Aids, Inter-Personnel Communication, and Workplace Design (see O'Hara ampersand Brown, 1993). The purpose of this paper is to describe the methodology for DRG use

  18. Loss of Hfe Leads to Progression of Tumor Phenotype in Primary Retinal Pigment Epithelial Cells

    Science.gov (United States)

    Gnana-Prakasam, Jaya P.; Veeranan-Karmegam, Rajalakshmi; Coothankandaswamy, Veena; Reddy, Sushma K.; Martin, Pamela M.; Thangaraju, Muthusamy; Smith, Sylvia B.; Ganapathy, Vadivel

    2013-01-01

    Purpose. Hemochromatosis is a disorder of iron overload arising mostly from mutations in HFE. HFE is expressed in retinal pigment epithelium (RPE), and Hfe−/− mice develop age-related iron accumulation and retinal degeneration associated with RPE hyperproliferation. Here, the mechanism underlying the hyperproliferative phenotype in RPE was investigated. Methods. Cellular senescence was monitored by β-galactosidase activity. Gene expression was monitored by real-time PCR. Survivin was analyzed by Western blot and immunofluorescence. Migration and invasion were monitored using appropriate kits. Glucose transporters (GLUTs) were monitored by 3-O-methyl-D-glucose uptake. Histone deacetylases (HDACs) were studied by monitoring catalytic activity and acetylation status of histones H3/H4. Results. Hfe−/− RPE cells exhibited slower senescence rate and higher survivin expression than wild type cells. Hfe−/− cells migrated faster and showed greater glucose uptake and increased expression of GLUTs. The expression of HDACs and DNA methyltransferase (DNMTs) also was increased. Similarly, RPE cells from hemojuvelin (Hjv)-knockout mice, another model of hemochromatosis, also had increased expression of GLUTs, HDACs, and DNMTs. The expression of Slc5a8 was decreased in Hfe−/− RPE cells, but treatment with a DNA methylation inhibitor restored the transporter expression, indicating involvement of DNA methylation in the silencing of Slc5a8 in Hfe−/− cells. Conclusions. RPE cells from iron-overloaded mice exhibit several features of tumor cells: decreased senescence, enhanced migration, increased glucose uptake, and elevated levels of HDACs and DNMTs. These features are seen in Hfe−/− RPE cells as well as in Hjv−/− RPE cells, providing a molecular basis for the hyperproliferative phenotype of Hfe−/− and Hjv−/− RPE cells. PMID:23169885

  19. The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene.

    Science.gov (United States)

    Silva, Bruno; Pita, Lina; Gomes, Susana; Gonçalves, João; Faustino, Paula

    2014-12-01

    Hereditary hemochromatosis is an autosomal recessive disorder characterized by severe iron overload. It is usually associated with homozygosity for the HFE gene mutation c.845G > A; p.C282Y. However, in some cases, another HFE mutation (c.187C > G; p.H63D) seems to be associated with the disease. Its penetrance is very low, suggesting the possibility of other iron genetic modulators being involved. In this work, we have screened for HAMP promoter polymorphisms in 409 individuals presenting normal or increased serum ferritin levels together with normal or H63D-mutated HFE genotypes. Our results show that the hepcidin gene promoter TG haplotype, originated by linkage of the nc.-1010C > T and nc.-582A > G polymorphisms, is more frequent in the HFE_H63D individuals presenting serum ferritin levels higher than 300 μg/L than in those presenting the HFE_H63D mutation but with normal serum ferritin levels or in the normal control group.Moreover, it was observed that the TG haplotype was associated to increased serum ferritin levels in the overall pool of HFE_H63D individuals. Thus, our data suggest that screening for these polymorphisms could be of interest in order to explain the phenotype. However, this genetic condition seems to have no clinical significance.

  20. Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos Numeric alterations in the dys gene and their association with clinical features

    OpenAIRE

    Alejandra Mampel; María Inés Echeverría; Ana Lía Vargas; María Roque

    2011-01-01

    La distrofia muscular de Duchenne/Becker (DMD/B) es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70%) de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el est...

  1. Correlación entre el genotipo y el fenotipo bioquímico en pacientes cubanos con hiperfenilalaninemias CORRELATION BETWEEN THE GENOTYPE AND THE BIOCHEMICAL PHENOTYPE IN CUBAN PATIENTS WIHT HYPERPHENYLALANINEMIAS

    Directory of Open Access Journals (Sweden)

    Reinaldo Gutiérrez

    2005-03-01

    Full Text Available La fenilcetonuria es una enfermedad autosómica recesiva causada por mutaciones en el gen de la enzima fenilalanina hidroxilasa. Posee un amplio espectro fenotípico, que depende principalmente de la actividad residual de la enzima. Objetivos: Determinar la correlación genotipo-fenotipo bioquímico en pacientes a los que se les conoce su genotipo, de acuerdo con la actividad residual de la enzima mutada expresada in vitro, según la base de datos del gen (http://www.mcgillca/pah/db. Métodos: Evaluamos los datos bioquímicos y moleculares de 23 hiperfenilalaninémicos. Se tomó en cuenta la concentración de fenilalanina al nacimiento y la tolerancia a la fenilalanina a los 5 años de iniciado el tratamiento, así como la actividad residual in vitro , de cada una de las mutaciones. Resultados: De acuerdo con la base de datos del gen de la enzima fenilalanina hidroxilasa y los parámetros mencionados anteriormente, 12 pacientes resultaron tener mutaciones severas, 10 intermedias y 1 benigna. Nuestro estudio mostró que existe coincidencia genotipo-fenotipo bioquímico en el 78,2 % de los individuos con fenilcetonuria estudiados. Se demostró que las mutaciones en el gen de la fenilalanina hidroxilasa son el factor principal en la determinación del fenotipo metabólico en los pacientes con hiperfenilalaninemia.Phenylketonuria is a recessive autosomal disease caused by mutations in the gene of the phenylalanine hydroxylase enzime. It has a wide phenotypic spectrum that depends mainly on the residual activity of the enzyme. Objectives: To detemine the genotype-chemical phenotype correlation in patients whose genotype is known, according to the residual activity of the mutated enzime expressed in vitro in accordance with the gene's database (http://www.mcgillca/pah/db. Methods: We evaluated the biochemical and molecular data of 23 hyperphenylalaninemic individuals. The concentration of phenylalanine at birth and the tolerance to phenylalanine at 5

  2. Programa nacional de prevención y consejería genética del retinoblastoma mediante detección de mutaciones en el gen rb.

    OpenAIRE

    Frayle, H.; Guevara, G.

    2011-01-01

    El retinoblastoma es un raro tumor ocular que se diagnostica en los niños, 40% de los casos se consideran hereditarios y 60% esporádicos. El modelo genético propuesto por Knudson involucra
    una la doble mutación inactivante del gen Rb, exclusivamente somática en los esporádicos y germinal más somática en los hereditarios. Esta investigacin tuvo como objetivo caracterizar las mutaciones en el gen Rb mediante secuenciación directa y evaluar su utilidad en la consejería genética....

  3. Variation in the HFE gene is associated with the development of bleomycin-induced pulmonary toxicity in testicular cancer patients.

    Science.gov (United States)

    van der Schoot, Gabriela G F; Westerink, Nico-Derk L; Lubberts, Sjoukje; Nuver, Janine; Zwart, Nynke; Walenkamp, Annemiek M E; Wempe, Johan B; Meijer, Coby; Gietema, Jourik A

    2016-05-01

    Bleomycin and cisplatin are of key importance in testicular cancer treatment. Known potential serious adverse effects are bleomycin-induced pulmonary toxicity (BIP) and cisplatin-induced renal toxicity. Iron handling may play a role in development of this toxicity. Carriage of allelic variants of the HFE gene induces altered iron metabolism and may contribute to toxicity. We investigated the association between two common allelic variants of the HFE gene, H63D and C282Y, with development of pulmonary and renal toxicity during and after treatment with bleomycin- and cisplatin-containing chemotherapy. In 369 testicular cancer patients treated with bleomycin and cisplatin at the University Medical Center Groningen between 1978 and 2006, H63D and/or C282Y genotypes were determined with an allelic discrimination assay. Data were collected on development of BIP, pulmonary function parameters, renal function, and survival. BIP developed more frequently in patients who were heterozygote (16 in 75, 21%) and homozygote (2 in 4, 50%) for the H63D variant, compared with those who had the HFE wild-type gene (31 in 278, 11%) (p = 0.012). Overall survival, testicular cancer-related survival, and change in renal function were not associated with the H63D variant. We observed an association between presence of one or both H63D alleles and development of BIP in testicular cancer patients treated with bleomycin combination chemotherapy. In patients heterozygote and homozygote for the H63D variant, BIP occurred more frequently compared with wild-type patients. When validated and confirmed, HFE H63D genotyping may be used to identify patients with increased risk for pulmonary bleomycin toxicity. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

    Science.gov (United States)

    de Tayrac, Marie; Roth, Marie-Paule; Jouanolle, Anne-Marie; Coppin, Hélène; le Gac, Gérald; Piperno, Alberto; Férec, Claude; Pelucchi, Sara; Scotet, Virginie; Bardou-Jacquet, Edouard; Ropert, Martine; Bouvet, Régis; Génin, Emmanuelle; Mosser, Jean; Deugnier, Yves

    2015-03-01

    Hereditary hemochromatosis (HH) is the most common form of genetic iron loading disease. It is mainly related to the homozygous C282Y/C282Y mutation in the HFE gene that is, however, a necessary but not a sufficient condition to develop clinical and even biochemical HH. This suggests that modifier genes are likely involved in the expressivity of the disease. Our aim was to identify such modifier genes. We performed a genome-wide association study (GWAS) using DNA collected from 474 unrelated C282Y homozygotes. Associations were examined for both quantitative iron burden indices and clinical outcomes with 534,213 single nucleotide polymorphisms (SNP) genotypes, with replication analyses in an independent sample of 748 C282Y homozygotes from four different European centres. One SNP met genome-wide statistical significance for association with transferrin concentration (rs3811647, GWAS p value of 7×10(-9) and replication p value of 5×10(-13)). This SNP, located within intron 11 of the TF gene, had a pleiotropic effect on serum iron (GWAS p value of 4.9×10(-6) and replication p value of 3.2×10(-6)). Both serum transferrin and iron levels were associated with serum ferritin levels, amount of iron removed and global clinical stage (pHFE-associated HH (HFE-HH) patients, identified the rs3811647 polymorphism in the TF gene as the only SNP significantly associated with iron metabolism through serum transferrin and iron levels. Because these two outcomes were clearly associated with the biochemical and clinical expression of the disease, an indirect link between the rs3811647 polymorphism and the phenotypic presentation of HFE-HH is likely. Copyright © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  5. HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania.

    Science.gov (United States)

    Trifa, Adrian P; Popp, Radu A; Militaru, Mariela S; Farcaş, Marius F; Crişan, Tania O; Gana, Ionuţ; Cucuianu, Andrei; Pop, Ioan V

    2012-06-01

    HFE-associated haemochromatosis is one of the most frequent autosomal recessive disorders in the Caucasian population. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. This study was a first attempt to evaluate the distribution of these HFE gene mutations in the Transylvania region. Two-hundred and twenty-five healthy, unrelated volunteers originating from the Transylvania region, Romania, were screened for the HFE gene C282Y, H63D and S65C mutations, using molecular genetics assays (Polymerase Chain Reaction-Restriction Fragments Length Polymorphism). For the C282Y mutation, 7 heterozygotes (3.1%) were found, but no homozygous individual. In the case of the H63D mutation, 40 heterozygotes (17.8%) and 4 homozygotes (1.75%) for the mutant allele were evidenced. We found a compound heterozygous genotype (C282Y/H63D) in one individual (0.45%). Thus, the allele frequencies of the C282Y and H63D were 1.75% and 10.9%, respectively. Three individuals (1.3%) were found to harbour the S65C mutation in a heterozygous state, but none in a homozygous state: the allele frequency of the mutant allele was 0.75%. The distribution of the HFE gene C282Y, H63D and S65C mutations found in our group matches the tendencies observed in other European countries: a decreasing gradient from Northern to Southern Europe for the C282Y mutation; high frequency for the H63D mutation, and low frequency for the S65C mutation in most of the countries.

  6. The effect of the hemochromatosis (HFE genotype on lead load and iron metabolism among lead smelter workers.

    Directory of Open Access Journals (Sweden)

    Guangqin Fan

    Full Text Available Both an excess of toxic lead (Pb and an essential iron disorder have been implicated in many diseases and public health problems. Iron metabolism genes, such as the hemochromatosis (HFE gene, have been reported to be modifiers for lead absorption and storage. However, the HFE gene studies among the Asian population with occupationally high lead exposure are lacking.To explore the modifying effects of the HFE genotype (wild-type, H63D variant and C282Y variant on the Pb load and iron metabolism among Asian Pb-workers with high occupational exposure.Seven hundred and seventy-one employees from a lead smelter manufacturing company were tested to determine their Pb intoxication parameters, iron metabolic indexes and identify the HFE genotype. Descriptive and multivariate analyses were conducted.Forty-five H63D variant carriers and no C282Y variant carrier were found among the 771 subjects. Compared with subjects with the wild-type genotype, H63D variant carriers had higher blood lead levels, even after controlling for factors such as age, sex, marriage, education, smoking and lead exposure levels. Multivariate analyses also showed that the H63D genotype modifies the associations between the blood lead levels and the body iron burden/transferrin.No C282Y variant was found in this Asian population. The H63D genotype modified the association between the lead and iron metabolism such that increased blood lead is associated with a higher body iron content or a lower transferrin in the H63D variant. It is indicated that H63D variant carriers may be a potentially highly vulnerable sub-population if they are exposed to high lead levels occupationally.

  7. The effect of the hemochromatosis (HFE) genotype on lead load and iron metabolism among lead smelter workers.

    Science.gov (United States)

    Fan, Guangqin; Du, Guihua; Li, Huijun; Lin, Fen; Sun, Ziyong; Yang, Wei; Feng, Chang; Zhu, Gaochun; Li, Yanshu; Chen, Ying; Jiao, Huan; Zhou, Fankun

    2014-01-01

    Both an excess of toxic lead (Pb) and an essential iron disorder have been implicated in many diseases and public health problems. Iron metabolism genes, such as the hemochromatosis (HFE) gene, have been reported to be modifiers for lead absorption and storage. However, the HFE gene studies among the Asian population with occupationally high lead exposure are lacking. To explore the modifying effects of the HFE genotype (wild-type, H63D variant and C282Y variant) on the Pb load and iron metabolism among Asian Pb-workers with high occupational exposure. Seven hundred and seventy-one employees from a lead smelter manufacturing company were tested to determine their Pb intoxication parameters, iron metabolic indexes and identify the HFE genotype. Descriptive and multivariate analyses were conducted. Forty-five H63D variant carriers and no C282Y variant carrier were found among the 771 subjects. Compared with subjects with the wild-type genotype, H63D variant carriers had higher blood lead levels, even after controlling for factors such as age, sex, marriage, education, smoking and lead exposure levels. Multivariate analyses also showed that the H63D genotype modifies the associations between the blood lead levels and the body iron burden/transferrin. No C282Y variant was found in this Asian population. The H63D genotype modified the association between the lead and iron metabolism such that increased blood lead is associated with a higher body iron content or a lower transferrin in the H63D variant. It is indicated that H63D variant carriers may be a potentially highly vulnerable sub-population if they are exposed to high lead levels occupationally.

  8. Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis

    Directory of Open Access Journals (Sweden)

    M.M. Deguti

    2003-06-01

    Full Text Available The hypothesis of the role of iron overload associated with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH has been raised in recent years. In the present study, biochemical and histopathological evidence of iron overload and HFE mutations was investigated in NASH patients. Thirty-two NASH patients, 19 females (59%, average 49.2 years, 72% Caucasians, 12% Mulattoes and 12% Asians, were submitted to serum aminotransferase and iron profile determinations. Liver biopsies were analyzed for necroinflammatory activity, architectural damage and iron deposition. In 31 of the patients, C282Y and H63D mutations were tested by PCR-RFLP. Alanine aminotransferase levels were increased in 30 patients, 2.42 ± 1.12 times the upper normal limit on average. Serum iron concentration, transferrin saturation and ferritin averages were 99.4 ± 31.3 g/dl, 33.1 ± 12.7% and 219.8 ± 163.8 µg/dl, respectively, corresponding to normal values in 93.5, 68.7 and 78.1% of the patients. Hepatic siderosis was observed in three patients and was not associated with architectural damage (P = 0.53 or with necroinflammatory activity (P = 0.27. The allelic frequencies (N = 31 found were 1.6 and 14.1% for C282Y and H63D, respectively, which were compatible with those described for the local population. In conclusion, no evidence of an association of hepatic iron overload and HFE mutations with NASH was found. Brazilian NASH patients comprise a heterogeneous group with many associated conditions such as hyperinsulinism, environmental hepatotoxin exposure and drugs, but not hepatic iron overload, and their disease susceptibility could be related to genetic and environmental features other than HFE mutations.

  9. Hemocromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population

    International Nuclear Information System (INIS)

    Sharifi, F.; Esmaeilzadeh, A.; Zali, M.

    2008-01-01

    Objective was to assess the frequency of 2 different forms of hemochromatosis HFE gene mutations c282y and H63D mutations in a normal population in comparison with type 2 diabetic patients. This case control study was undertaken in Zanjan Diabetic Care Center, Zanjan, western Tehran, in 2005. Two hundred and two individuals were included in this study: 101 type 2 diabetes mellitus T2DM patients and 101 age and gender-matched controls. The patients were examined for mutations in the HFE gene. Nucleotide 845 C282Y and 187 H63D alleles were amplified by polymerase chain reaction PCR with lymphocyte deoxyribonucleic acid. The PCR products were analyzed by restriction enzyme digestion. Chi-square students test and Fisher's exact tests were used for comparison and odds ratio was calculated. Two hundred and two individuals were studied. The frequency of wild /C28Y alleles was 68.3/31.7% in diabetics p=0.08 and 73.4/26.3% in control subjects p=0.08. The distribution of genotypes was not statistically different. Based on our data, HFE mutations were not found in excess in patients with T2DM and there was no evidence that a population-based search for an excess of these alleles in type 2 diabetes was indicated. (author)

  10. Use of Neutron Irradiations in the Brookhaven Mutations Programme; Irradiation Neutronique dans le Cadre du Programme de Mutations Radioinduites de Brookhaven; Primenenie nejtronnogo izlucheniya v brukkhejvenskoj programme po ispol'zovaniyu mutatsij; La Irradiacion Neutronica en el Marco del Programa de Mutaciones Radioinducidas de Brookhaven

    Energy Technology Data Exchange (ETDEWEB)

    Miksche, J. P.; Shapiro, S. [Biology Department, Brookhaven National Laboratory, Upton, NY (United States)

    1964-03-15

    Brookhaven consiste a fournir les installations, a elaborer des methodes de travail-et a proceder a des etudes theoriques; les plantes et les semences sont fournies par les experts, qui sont charges de surveiller la croissance des plantes irradiees et d'etudier les mutations. Plus de 150 specialistes, venus de 45 Etats et de Porto-Rico, travaillent dans le cadre du programme. Des projets ont ete mis en oeuvre avec des specialistes des pays ciapres: Afrique du Sud, Allemagne occidentale, Australie, Belgique, Chili, Costa Rica, Danemark, Equateur, Formose, Grece, Guatemala, Inde, Irlande, Italie, Japon, Kenya, Mexique, Pakistan, Pays-Bas, Perou, Philippines, Roumanie, Thailande, Venezuela, et Yougoslavie. Les auteurs exposent brievement les projets communs, en decrivant notamment l'emploi des neutrons pour provoquer des mutations. (author) [Spanish] La ejecucion del programa cooperativo de mutaciones radioinducidas se inicio have unos diez aflos en el Brookhaven National Laboratory a fin de permitir a los fitogenetistas y agronomos de mejorar los cultivos con ayuda de las tecnicas de irradiacion. Las instalaciones utilizadas en el cumplimiento del programa cooperativo son las siguientes: la columna termica del reactor BGRR, el aparato de rayos X de 250 kVp del Departamento de Biologia, las fuentes de rayos gamma del orden del kilocurie del Departamento de Ingenieria Nuclear, una fuente de rayos gamma de {sup 60}Co o de 12 c instalada en el invernadero y una fuente de {sup 60}Co de 4000 c situada en un terreno experimental de 5 ha. La funcion del Laboratorio de Brookhaven consiste en proporcionar las instalaciones, elaborar metodos de trabajo y proceder a estudios teoricos, mientras que las plantas y semillas son facilitadas por los agronomos que estan encargados del cultivo de las plantas irradiadas y de la seleccion de las mutaciones. Mas de 150 especialistas de 45 Estados y de Puerto Rico recurren a los servicios ofrecidos por el programa. Tambien se han emprendido proyectos en

  11. [The polymorphism of catechol-O-methyltransferase (COMT) and hemochromatosis (HFE) genes in the radiocontaminated regions residents with different chromosome aberration frequency].

    Science.gov (United States)

    Ivanova, T I; Kondrashova, T V; Krikunova, L I; Smirnova, I A; Shentereva, N I; Sychenkova, N I; Rykova, E V; Zharikova, I A; Khorokhorina, V A; Riabchenko, N I; Zamulaeva, I A

    2010-01-01

    The association between polymorphisms in genes COMT, HFE that takes part in oxidative stress regulation, and chromosome aberration frequency in lymphocytes was assessed in 278 female residents of radiation polluted regions of Central Russia: Bryansk (322 kBk/m2) and Tula Districts (137Cs - 171 kBk/m2). The C187G, G845A genotyping of HFE and G1947A (H/L) of COMT was done by means of polymerase chain reaction-restriction fragment length polymorphism. Studied population was divided into 3 subgroups by level of chromosome aberrations per cell (0-2, 3-4, >5). There was shown statistically significant difference in distribution of COMTand HFE genotypes between the groups. The high frequency of chromosome aberrations (> or = 5%) was associated with homozygotes of the high activity COMT G/G and HFE CC. Heterozygotes for G1947A COMT and C187G HFE reveal negative association with the high frequency of chromosome aberrations and correspond to "resistance factors".

  12. Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related hereditary haemochromatosis

    Directory of Open Access Journals (Sweden)

    Barton David E

    2006-11-01

    Full Text Available Abstract Background Hereditary haemochromatosis (HH is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position 63 (H63D. Molecular genetic testing for these two mutations has become widespread in recent years. With diverse testing methods and reporting practices in use, there was a clear need for agreed guidelines for haemochromatosis genetic testing. The UK Clinical Molecular Genetics Society has elaborated a consensus process for the development of disease-specific best practice guidelines for genetic testing. Methods A survey of current practice in the molecular diagnosis of haemochromatosis was conducted. Based on the results of this survey, draft guidelines were prepared using the template developed by UK Clinical Molecular Genetics Society. A workshop was held to develop the draft into a consensus document. The consensus document was then posted on the Clinical Molecular Genetics Society website for broader consultation and amendment. Results Consensus or near-consensus was achieved on all points in the draft guidelines. The consensus and consultation processes worked well, and outstanding issues were documented in an appendix to the guidelines. Conclusion An agreed set of best practice guidelines were developed for diagnostic, predictive and carrier testing for hereditary haemochromatosis and for reporting the results of such testing.

  13. HFE Mutations C282Y and H63D in Iranian Population With Type 2 Diabetes

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    Golchin

    2015-04-01

    Full Text Available Background Type 2 diabetes (T2D is a common metabolic disease caused by insulin secretion defects, which is associated with a variety of complications such as retinopathy, nephropathy, and neuropathy. Objectives Regarding the relationship between type 2 diabetes and hereditary chromatists, we conducted a genetic analysis on two previously reported mutations C282Y and H63D related to the HFE gene in our population. Patients and Methods Altogether, 145 patients with type 2 diabetes and 145 healthy controls were examined. A genotyping assay performed using electrophoresis of the DNA digestion products from MboI and RsaI for H63D and C282Y, respectively. Results Results showed a significant difference between case and controls regarding C282Y (P value < 0.001 and H63D genotypes (P value = 0.013. We also found a relationship between both mutations and nephropathy. Moreover, the difference between C282Y genotypes of patients with retinopathy and healthy controls were statistically significant (P value = 0.020 while there was no association between H63D and retinopathy. In addition, observed differences of both mutations were significant when nephropathic patients compared to the controls. Conclusions Our study showed a significant association between H63D and C282Y mutations and the risk of type 2 diabetes in Iranian population.

  14. Experiments on HFE-7100 pool boiling at atmospheric pressure in horizontal narrow spaces

    Energy Technology Data Exchange (ETDEWEB)

    Guglielmini, G.; Misale, M.; Priarone, A. [Universita degli Studi di Genova (Italy). DIPTEM - Sezione di Termoenergetica e Condizionamento Ambientale

    2009-07-01

    Experiments were performed to examine the pool boiling heat transfer and critical heat flux on a smooth copper circular surface, confined by a face-to-face parallel unheated surface, by changing the gap between the surfaces and the unheated surface diameter. Pool boiling data at atmospheric pressure were obtained for saturated HFE-7100. The gap values investigated, between the boiling surface and the adiabatic one, were s 0.5, 1.0, 2.0, 3.5 mm. To confine the boiling surface, two different Plexiglas plates were used: the former characterised by a diameter D = 60 mm, large as the overall test section support, the latter characterised by a diameter D = 30 mm, large to cover only copper boiling surface (d = 30 mm). For each configuration, boiling curves were obtained up to the thermal crisis. For both different types of confinement, it was observed that the boiling curves match at low wall superheat, except for s = 0.5 mm, 1 mm. However, at high wall superheat, a drastic reduction in heat transfer as well as CHF appears decreasing the channel width s; for all gap sizes, this reduction is less pronounced for the smaller confinement wall (D = 30 mm). Instead, at low wall superheat for gap of 0.5 and 1.0 mm, the heat transfer coefficient is higher for diameter disc of 60 mm. CHF data were also compared with a literature correlation (Misale and al., 2009). (author)

  15. Study of antiretroviral mutants in HIV patients with treatment failures and the effect of risk factors in the virological failures Estudio de mutantes resistentes a los antiretrovirales en pacientes con VIH con falla terapeutica y efecto de los factores de riesgo en el tratamiento

    Directory of Open Access Journals (Sweden)

    Lizeth Taylor-Castillo

    2005-12-01

    analizadas con Trugene o LIPA para la detección de mutantes de resistencia en la transcriptasa reversa (TR y en la proteasa (PT del VIH. Se seleccionaron sesenta y ocho controles y se recolectó información relevante en un cuestionario. La mala adherencia, la presencia de mutaciones y el número de cambios de tratamiento fueron los únicos factores con significancia encontrados. (p = 0.03, 0.04 and 0.04 respectively. De 66 muestras secuenciadas, 78%, 50% y 50% mostraron resistencia a los inhibidores análogos y no análogos de nucleótidos para la TR y la PT respectivamente. La mutaciones más frecuentes fueron M41L, M184V, y T215FY en la TR y L62PI, L10FIRV y M36I en la PT. La adherencia fue el factor más importante relacionado con la respuesta al tratamiento. Las mutaciones encontradas en la TR estaban relacionadas al tratamiento mientras que las de la PT fueron mutaciones secundarias que propician la aparición de las mutaciones asociadas a resistencia en esa región. Este estudio revela la necesidad de detectar mutantes de resistencia en pacientes con FV y de estudiar las muestras basales. Además la importancia de reforzar la adherencia en los pacientes para una mejor respuesta al tratamiento.

  16. Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands

    DEFF Research Database (Denmark)

    Milman, Nils; á Steig, Torkil; Koefoed, Pernille

    2004-01-01

    on the HFE gene was assessed by genotyping using the polymerase chain reaction (PCR) technique and calculated from direct allele counting. We found no C282Y homozygous subjects; 28 (14.0%) subjects were C282Y heterozygous and four subjects were C282Y/H63D compound heterozygous (2.0%). The C282Y allele......The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C282Y, H63D, and S65C in the population in the Faroe Islands. The series comprised 200 randomly selected blood donors of Faroese heritage. The frequency of the C282Y, H63D, and S65C mutations.......6%. Screening of larger groups of the Faroese population for HFE mutations especially C282Y should be considered in order to establish the penetrance....

  17. Asociación entre la mutación homocigota c.318A>T en el exón 2 del gen EIF2B5 y la forma infantil de la leucoencefalopatía con sustancia blanca evanescente

    OpenAIRE

    Carmen Esmer; Gabriela Blanco Hernández; Víctor Saavedra Alanís; Jorge Guillermo Reyes Vaca; Antonio Bravo Oro

    2017-01-01

    Introducción: La leucoencefalopatía con sustancia blanca evanescente es una de las leucodistrofias más frecuentes. Generalmente inicia en la infancia y presenta un patrón de herencia autosómica recesiva. El 90% de los casos manifiesta mutaciones en uno de los genes que codifican para las cinco subunidades del factor de iniciación eucariótica 2 (EIF2B5). El diagnóstico se realiza por las manifestaciones clínicas, hallazgos en la resonancia magnética cerebral y estudios moleculares confirmatori...

  18. Adenocarcinoma pulmonar metastásico con evolución favorable al tratamiento con ITK-EGFR en un paciente fumador

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    Joseph Jesús Exebio Jara

    2015-04-01

    Full Text Available Introducción: El cáncer de pulmón es el cáncer con mayor mortalidad en ambos sexos. El esquema de manejo actual del adenocarcinoma pulmonar incluye determinar el estado mutacional del receptor del factor de crecimiento epidérmico (EGFR, por ser la diana para el erlotinib, una terapia biológica. Caso clínico: Varón de 62 años, con hábito tabáquico de alto riesgo oncológico, que debuta con un cuadro de cefalea de un mes de evolución, objetivándose por resonancia magnética tumor cerebral. El diagnóstico inmunohistoquímico post quirúrgico fue adenocarcinoma pulmonar metastásico (TTF-1 (+. La tomografía identificó una lesión en el lóbulo superior derecho del pulmón; no presentaba clínica respiratoria. Al ser positivo para la mutación en el exón 21 del gen EGFR, se inició terapia con erlotinib, siendo bien tolerada por el paciente y manteniendo su estabilidad clínica. El paciente sobrevivió por el lapso de 31 meses posterior a su diagnóstico. Discusión: El tratamiento con erlotinib fue inicialmente indicado en el perfil de una paciente mujer, asiática y no fumadora. La eficacia en los estudios en pacientes con cáncer de pulmón de células no pequeñas evidencia que la sobrevida global es 15,9 meses, muy por debajo del visto en el presente caso.

  19. Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin.

    Science.gov (United States)

    Latour, Chloé; Besson-Fournier, Céline; Meynard, Delphine; Silvestri, Laura; Gourbeyre, Ophélie; Aguilar-Martinez, Patricia; Schmidt, Paul J; Fleming, Mark D; Roth, Marie-Paule; Coppin, Hélène

    2016-01-01

    Hereditary hemochromatosis, which is characterized by inappropriately low levels of hepcidin, increased dietary iron uptake, and systemic iron accumulation, has been associated with mutations in the HFE, transferrin receptor-2 (TfR2), and hemojuvelin (HJV) genes. However, it is still not clear whether these molecules intersect in vivo with bone morphogenetic protein 6 (BMP6)/mothers against decapentaplegic (SMAD) homolog signaling, the main pathway up-regulating hepcidin expression in response to elevated hepatic iron. To answer this question, we produced double knockout mice for Bmp6 and β2-microglobulin (a surrogate for the loss of Hfe) and for Bmp6 and Tfr2, and we compared their phenotype (hepcidin expression, Bmp/Smad signaling, hepatic and extrahepatic tissue iron accumulation) with that of single Bmp6-deficient mice and that of mice deficient for Hjv, alone or in combination with Hfe or Tfr2. Whereas the phenotype of Hjv-deficient females was not affected by loss of Hfe or Tfr2, that of Bmp6-deficient females was considerably worsened, with decreased Smad5 phosphorylation, compared with single Bmp6-deficient mice, further repression of hepcidin gene expression, undetectable serum hepcidin, and massive iron accumulation not only in the liver but also in the pancreas, the heart, and the kidneys. These results show that (1) BMP6 does not require HJV to transduce signal to hepcidin in response to intracellular iron, even if the loss of HJV partly reduces this signal, (2) another BMP ligand can replace BMP6 and significantly induce hepcidin expression in response to extracellular iron, and (3) BMP6 alone is as efficient at inducing hepcidin as the other BMPs in association with the HJV/HFE/TfR2 complex; they provide an explanation for the compensatory effect of BMP6 treatment on the molecular defect underlying Hfe hemochromatosis in mice. © 2015 by the American Association for the Study of Liver Diseases.

  20. Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies

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    M. Li

    2014-03-01

    Full Text Available Iron homeostasis dysregulation has been regarded as an important mechanism in neurodegenerative diseases. The H63D and C282Y polymorphisms in the HFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS through the disruption of iron homeostasis. However, studies investigating the relationship between ALS and these two polymorphisms have yielded contradictory outcomes. We performed a meta-analysis to assess the roles of the H63D and C282Y polymorphisms of HFE in ALS susceptibility. PubMed, MEDLINE, EMBASE, and Cochrane Library databases were systematically searched to identify relevant studies. Strict selection criteria and exclusion criteria were applied. Odds ratios (ORs with 95% confidence intervals (CIs were used to assess the strength of associations. A fixed- or random-effect model was selected, depending on the results of the heterogeneity test. Fourteen studies were included in the meta-analysis (six studies with 1692 cases and 8359 controls for C282Y; 14 studies with 5849 cases and 13,710 controls for H63D. For the C282Y polymorphism, significant associations were observed in the allele model (Y vs C: OR=0.76, 95%CI=0.62-0.92, P=0.005 and the dominant model (YY+CY vs CC: OR=0.75, 95%CI=0.61-0.92, P=0.006. No associations were found for any genetic model for the H63D polymorphism. The C282Y polymorphism in HFE could be a potential protective factor for ALS in Caucasians. However, the H63D polymorphism does not appear to be associated with ALS.

  1. Progress of Design Improvements for APR1400 Computerized Procedure System from HFE V and V results and Design Experience

    International Nuclear Information System (INIS)

    Lee, Sungjin; Seong, Nokyu

    2015-01-01

    This study shows major already improved design features from the above three processes and a design proposal for to-be-improving items. APR1400 CPS has been verified and validated by the HFE process, internal design review and site acceptance tests. APR1400 Computerized Procedure System (CPS) has been applied to Shin-Kori Nuclear Power Plant (SKN) 3 and 4 units, Shin-Hanul Nuclear Power Plant (SHN) 1 and 2 units and Baraka Nuclear Power Plant (BNPP) 1, 2, 3 and 4 units. Since APR1400 CPS is a first-of-a-kind (FOAK) human machine interface (HMI) for executing a computerized procedure in the nuclear power plant's main control room in South Korea, it has been continuously improved through a) the human factor engineering (HFE) verification and validation (V and V), b) the internal design review and c) prototype tests. Human engineering discrepancies (HEDs) can be identified by the HFE V and V activity. Some HEDs of APR1400 CPS for SKN 3 and 4 and SHN 1 and 2 have been adopted as a role of design improvement in the CPS system while others were regarded as an operator training requirement or part of task contents. Various requests for improving the CPS have been collected from those results. A HMI system should be improved continuously for removing potential defects. Some of introduced design features in this paper has been adopted for APR1400 nuclear power plants. Some of them are under the review in the CPS design team of KHNP

  2. HFE C282Y and H63D in adults with malignancies in a community medical oncology practice

    International Nuclear Information System (INIS)

    Barton, James C; Bertoli, Luigi F; Acton, Ronald T

    2004-01-01

    We sought to compare frequencies of HFE C282Y and H63D alleles and associated odds ratios (OR) in 100 consecutive unrelated white adults with malignancy to those in 318 controls. Data from patients with more than one malignancy were analyzed according to each primary malignancy. For the present study, OR ≥2.0 or ≤0.5 was defined to be increased or decreased, respectively. There were 110 primary malignancies (52 hematologic neoplasms, 58 carcinomas) in the 100 adult patients. Allele frequencies were similar in patients and controls (C282Y: 0.0850 vs. 0.0896, respectively (OR = 0.9); H63D: 0.1400 vs. 0.1447, respectively (OR = 0.9)). Two patients had hemochromatosis and C282Y homozygosity. With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4). With H63D, increased OR occurred in myeloproliferative disorders and adenocarcinomas of breast and prostate (2.4, 2.0, and 2.0, respectively); OR was decreased in non-Hodgkin lymphoma and B-chronic lymphocytic leukemia (0.5 and 0.4, respectively). In 100 consecutive adults with malignancy evaluated in a community medical oncology practice, frequencies of HFE C282Y or H63D were similar to those in the general population. This suggests that C282Y or H63D is not associated with an overall increase in cancer risk. However, odds ratios computed in the present study suggest that increased (or decreased) risk for developing specific types of malignancy may be associated with the inheritance of HFE C282Y or H63D. Study of more patients with these specific types of malignancies is needed to determine if trends described herein would remain and yield significant differences

  3. Frequency of the Hemochromatosis Gene (HFE Variants in a Jordanian Arab Population and in Diabetics from the Same Region

    Directory of Open Access Journals (Sweden)

    Asem Alkhateeb

    2009-01-01

    Full Text Available Hereditary HFE-linked hemochromatosis is a frequent recessive disorder among individuals of northern European ancestry. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately may lead to organ damage and death. Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload. In this study we performed mutation analysis to identify allele frequency of the three variants of HFE gene in Jordanian Arab population, to assess deviations of these frequencies from those detected elsewhere, and to determine if there is an increased frequency of these variants in a diabetic population (Type 2 diabetes from the same area. DNA was extracted from blood samples of 440 individuals attending King Abdullah University Hospital for ambulatory services. We used polymerase chain reaction (PCR to amplify exons 2 and 4 of the HFE gene then restriction fragment length polymorphism (RFLP method to detect the variants. There were neither homozygous nor heterozygous for C282Y variant. For the H63D variant, 0.68% were homozygous and 21.1% were heterozygous. For the S65C variant, there were no homozygous and 0.23% were heterozygous. Allelic frequencies were, 0%, 11.25%, and 0.11% for C282Y, H63D, and S65C, respectively. Our samples were subdivided into two categories of type 2 diabetic (89 cases and controls (blood donors, 204 cases and compared with regard to the H63D variant. Both groups did not have homozygous H63D variant. H63D heterozygous in diabetics were 23.60% and in blood donor controls 22.55%. Allelic frequency of the mutant H63D allele was 11.80% in diabetics and 11.27% for the blood donor controls. This is the first study to show the frequency of the three hemochromatosis gene variants in Jordan with the interesting

  4. Survey of HFE Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study

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    Selma Ünal

    2014-09-01

    Full Text Available OBJECTIVE: This study was planned in order to determine the effect of C282Y mutation in development of secondary hemochromatosis in beta-thalassemia patients and to determine the prevalence and allele frequency of this mutation in a healthy control group. METHODS: Eighty-seven children and young adults (46 males and 41 females; mean age: 15.6±6.1 years, range: 3-30 years with beta-thalassemia major (BTM and 13 beta-thalassemia intermedia (BTI patients (6 males and 7 females; mean age: 19.6±3.5 years, range: 13-26 years were included in the study. The control group comprised 100 healthy blood donors. RESULTS: Neither heterozygous nor homozygous HFE gene C282Y mutation was detected in patients with BTM or BTI, or in control group. CONCLUSION: The C282Y mutation, which is supposed to be responsible for the majority of hereditary hemochromatosis, was not found to have a role in the development of hemochromatosis in beta-thalassemia patients and was not detected in a healthy Turkish population. However, research on larger cohorts of individuals is required in order to determine the exact prevalence of the HFE gene mutation in Turkish populations from diverse ethnic origins and whether it would have an impact on iron loading in thalassemic populations.

  5. Correlation between HFE gene polymorphisms and increased risk of coronary artery disease among patients with type 2 diabetes in Iran.

    Science.gov (United States)

    Saremi, Leila; Saremi, Marzieh; Lotfipanah, Shirin; İmani, Saber; Fu, Junjiang; Zhang, Tianyu

    2016-04-19

    Diabetes mellitus is a risk factor for cardiovascular diseases (CVDs), which are among the major causes of deaths in type 2 diabetes (T2D). The purpose of the present study was to determine the association of C282Y and H63D mutations in the HFE gene with increased risk of coronary artery disease (CAD) in T2D patients. Two hundred and ninety individuals were divided into two groups: a case group and a control group. Genomic DNA of peripheral venous blood cells was extracted and the HFE gene mutations were analyzed using the PCR-RFLP technique. Data analysis revealed a significant difference between the allele frequencies of H63D and C282Y mutations between the case group and the controls (P 0.05). Using a logistic regression model, BMI, FBS, HDL, and total cholesterol levels were significantly different with independent predictors of CVD (P < 0.05). Our results revealed a significant correlation between C282Y and H63D mutations and the development of CAD in T2D patients.

  6. Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.

    Science.gov (United States)

    Enein, Azza Aboul; El Dessouky, Nermine A; Mohamed, Khalda S; Botros, Shahira K A; Abd El Gawad, Mona F; Hamdy, Mona; Dyaa, Nehal

    2016-06-15

    This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing. Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001). Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients.

  7. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia.

    Science.gov (United States)

    Rodriguez, Libia M; Giraldo, Mabel C; Velasquez, Laura I; Alvarez, Cristiam M; Garcia, Luis F; Jimenez-Del-Rio, Marlene; Velez-Pardo, Carlos

    2015-03-01

    A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis ("HH") and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the Antioquia population, it is not associated with any particular HLA haplotype, whereas the C282Y mutation is associated with HLA-A*03-B*07, this supporting a northern Spaniard ancestry.

  8. HFE gene mutation and iron overload in Egyptian pediatric acute lymphoblastic leukemia survivors: a single-center study.

    Science.gov (United States)

    El-Rashedi, Farida H; El-Hawy, Mahmoud A; El-Hefnawy, Sally M; Mohammed, Mona M

    2017-08-01

    Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile. This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals. Thirty-five healthy children of matched age and sex were chosen as controls. After completing treatment course, ALL survivors were screened for the prevalence of these two mutations by polymerase chain reaction-restriction fragment length polymorphism. Serum ferritin levels were measured by an enzyme-linked immunosorbent assay technique (ELISA). C282Y mutation cannot be detected in any of the 35 survivors or the 35 controls. The H63D heterozygous state (CG) was detected in 28.6% of the survivors group and in 20% of controls, while the H63D homozygous (GG) state was detected in 17.1% of survivors. No compound heterozygosity (C282Y/H63D) was detected at both groups with high G allele frequency (31.4%) in survivors more than controls (10%). There were significant higher levels of iron parameters in homozygote survivors than heterozygotes and the controls. H63D mutation aggravates the iron overload status in pediatric ALL survivors.

  9. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia

    Directory of Open Access Journals (Sweden)

    Libia M Rodriguez

    2015-03-01

    Full Text Available A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis (“HH” and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the Antioquia population, it is not associated with any particular HLA haplotype, whereas the C282Y mutation is associated with HLA-A*03-B*07, this supporting a northern Spaniard ancestry.

  10. The relationship between selected VDR, HFE and ALAD gene polymorphisms and several basic toxicological parameters among persons occupationally exposed to lead.

    Science.gov (United States)

    Szymańska-Chabowska, Anna; Łaczmański, Łukasz; Jędrychowska, Iwona; Chabowski, Mariusz; Gać, Paweł; Janus, Agnieszka; Gosławska, Katarzyna; Smyk, Beata; Solska, Urszula; Mazur, Grzegorz; Poręba, Rafał

    2015-08-06

    The aim of this study was to find a relationship between polymorphisms of ALAD rs1805313, rs222808, rs1139488, VDR FokI and HFE C282Y and H63D and basic toxicological parameters (lead and ZnPP blood concentration) in people occupationally exposed to lead. We collected data of 101 workers (age 25-63 years) directly exposed to lead. The toxicological lab tests included blood lead, cadmium and ZnPP concentration measurement and arsenic urine concentration measurement. Workers were genotyped for ALAD (rs1805313, rs222808, rs1139488), HFE (C282Y, H63D) and VDR (FokI). Individuals with the lead exposure and coexisting F allel in the locus Fok-I of VDR gene are suspected of higher zinc protoporphyrins concentrations. Workers exposed to the lead with the Y allel in the locus C282Y of the HFE gene are predisposed to lower ZnPP levels and individuals with coexisting H allel in the locus H63D HFE gene are predisposed to lower Pb-B levels. The T allel in the locus rs1805313 of the ALAD gene determines lower Pb-B and ZnPP levels in lead-exposed individuals. The heterozigosity of the locus rs2228083 of the ALAD gene has a strong predilection to higher Pb-B levels. The carriage of the C allel in the locus rs1139488 of the ALAD gene might determine higher Pb-B levels and the heterozigosity of the locus rs1139488 of the ALAD gene might result in higher ZnPP levels. The study revealed relationship between VDR, HFE and ALAD genes polymorphism and basic toxicological parameters in occupationally exposed workers. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  11. The relationship between selected VDR, HFE and ALAD gene polymorphisms and several basic toxicological parameters among persons occupationally exposed to lead

    International Nuclear Information System (INIS)

    Szymańska-Chabowska, Anna; Łaczmański, Łukasz; Jędrychowska, Iwona; Chabowski, Mariusz; Gać, Paweł; Janus, Agnieszka; Gosławska, Katarzyna; Smyk, Beata; Solska, Urszula; Mazur, Grzegorz; Poręba, Rafał

    2015-01-01

    The aim of this study was to find a relationship between polymorphisms of ALAD rs1805313, rs222808, rs1139488, VDR FokI and HFE C282Y and H63D and basic toxicological parameters (lead and ZnPP blood concentration) in people occupationally exposed to lead. We collected data of 101 workers (age 25–63 years) directly exposed to lead. The toxicological lab tests included blood lead, cadmium and ZnPP concentration measurement and arsenic urine concentration measurement. Workers were genotyped for ALAD (rs1805313, rs222808, rs1139488), HFE (C282Y, H63D) and VDR (FokI). Individuals with the lead exposure and coexisting F allel in the locus Fok-I of VDR gene are suspected of higher zinc protoporphyrins concentrations. Workers exposed to the lead with the Y allel in the locus C282Y of the HFE gene are predisposed to lower ZnPP levels and individuals with coexisting H allel in the locus H63D HFE gene are predisposed to lower Pb-B levels. The T allel in the locus rs1805313 of the ALAD gene determines lower Pb-B and ZnPP levels in lead–exposed individuals. The heterozigosity of the locus rs2228083 of the ALAD gene has a strong predilection to higher Pb-B levels. The carriage of the C allel in the locus rs1139488 of the ALAD gene might determine higher Pb-B levels and the heterozigosity of the locus rs1139488 of the ALAD gene might result in higher ZnPP levels. Conclusion. The study revealed relationship between VDR, HFE and ALAD genes polymorphism and basic toxicological parameters in occupationally exposed workers

  12. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.

    Science.gov (United States)

    Warne, Charles D; Zaloumis, Sophie G; Bertalli, Nadine A; Delatycki, Martin B; Nicoll, Amanda J; McLaren, Christine E; Hopper, John L; Giles, Graham G; Anderson, Greg J; Olynyk, John K; Powell, Lawrie W; Allen, Katrina J; Gurrin, Lyle C

    2017-04-01

    Women who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably because of the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p.C282Y nor p.H63D mutations (HFE wild types) as comparison groups. A sample of the Melbourne Collaborative Cohort Study was selected for the "HealthIron" study (n = 1438) including all HFE p.C282Y homozygotes plus a random sample stratified by HFE-genotype (p.C282Y and p.H63D). The relationship between the natural logarithm of SF and time since menopause was examined using linear mixed models incorporating spline smoothing. For p.C282Y homozygotes, SF increased by a factor of 3.6 (95% CI (1.8, 7.0), P HFE genotype groups increase more gradually and did not show a distinction between premenopausal and postmenopausal SF levels. Only p.C282Y homozygotes had predicted SF exceeding 200 μg/L postmenopause, but the projected SF did not increase the risk of iron overload-related disease. These data provide the first documented evidence that physiological blood loss is a major factor in determining the marked gender difference in expression of p.C282Y homozygosity. © 2016 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  13. Evaluación de resistencia genotípica del VIH-1 en pacientes con fallo virológico de GuatemalaEvaluation of genotypic resistance of HIV-1 in patients with virologic failure Guatemala

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    Blanca Samayoa

    2014-10-01

    Full Text Available La resistencia a la terapia antirretroviral (TARV es un factor determinante para el fallo virológico en pacientes con VIH. El objetivo de este estudio fue identificar los patrones genotípicos de resistencia en pacientes con fallo virológico. Fueron incluidos pacientes de las diferentes unidades de atención integral de VIH en Guatemala, de quienes se sospechaba resistencia y que necesitaban cambios en la TARV por fallo virológico, se requirió haber evaluado la adherencia y una carga viral ≥1,000 copias/ml. La información clínica y demográfica fue recolectada a través de la forma de solicitud. El análisis de resistencia se realizó a través de la metodología TRUGENE® HIV-1. La muestra se restringió a 25 pacientes por motivos de accesibilidad. El 68% de las muestras analizadas presentaron resistencia; por familia de ARV la resistencia fue de 88.2% para ITINN, 70.5% para ITIAN y 17.6% para IP. Se identificaron 79 mutaciones entre el grupo de estudio, el 46.8% de fueron asociadas a ITINN, 76.6% a ITIAN y 26.6% a IP. Para ITIAN las mutaciones más frecuentes fueron la M184V 43%, M184I 14% y K219E 10%; el 23.8% fueron mutaciones TAMs. Para ITINN fueron la V179D 16%, K103N 14%, G190A 14% y Y181C 14%. Para los IP la mutación más frecuente fue la M36I con 29%. La resistencia identificada en este grupo, fue menor a lo reportado en otros países latinoamericanos; sin embargo es similar a lo reportado por OMS en países con bajo o medio ingreso económico.

  14. Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population.

    Science.gov (United States)

    Juzėnas, Simonas; Kupčinskas, Juozas; Valantienė, Irena; Šumskienė, Jolanta; Petrenkienė, Vitalija; Kondrackienė, Jūrate; Kučinskas, Laimutis; Kiudelis, Gediminas; Skiecevičienė, Jurgita; Kupčinskas, Limas

    2016-01-01

    Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. The aim of this study was to determine the association between heterozygous C282Y and H63D mutations and non-HH liver cirrhosis in Lithuanian population. The patient cohort consisted of 209 individuals. Diagnosis of cirrhosis was confirmed by clinical, laboratory parameters, liver biopsy, and radiological imaging. Control samples were obtained from 1005 randomly selected unrelated healthy individuals. HFE gene mutations were determined using the PCR-RFLP method. The most common causes of cirrhosis were hepatitis C (33.9%), hepatitis B (13.6%), and alcohol (25.8%). C282Y allele was associated with the presence of cirrhosis (OR=2.07; P=0.005); this was also observed under recessive model for C282Y (OR=2.06, P=0.008). The prevalence of C282Y allele was higher in cirrhotic men than in controls (7.0% vs. 2.8%, P=0.002). The carriage of H63D risk allele (OR=1.54; P=0.02), heterozygous C282Y/wt and homozygous H63D/H63D genotypes were associated with liver cirrhosis in males (OR=2.48, P=0.008, and OR=4.13, P=0.005, respectively). Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women. Copyright © 2016 The Lithuanian University of Health Sciences. Production and hosting by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  15. Mutation spectrum produced on PBR322 by 8-Methoxypsoralen plus UV-A light. Localizacion puntual de mutaciones producidas en PBR322 por tratamiento con 8-metoxipsoraleno mas luz ultravioleta-A

    Energy Technology Data Exchange (ETDEWEB)

    Bauluz, C.; Vidania, R.

    1990-01-01

    The mutagenic effect of 8-MOP+UVA (PUVA treatment) on pBR322 has been analysed by determining the frequency of mutation in the tet gene and identifying the type and position of the mutations produced inside a 276 pb-fragment (Bam-H1-SalI) of the same gene. pBR322 DNA was irradiated with UVA light in the presence of increasing concentrations of 8-Methoxypsoralen (8-MOP). The number of psoralen adducts formed in pBR322 upon that treatment ranged from 0 to 10.7 adducts per plasmid molecule. Modified DNA samples were used to transform several strains of E. Coli (differing in their repair capacities), both in constitutive conditions and after sos pre-induction by 254 nm-irradiation of cells. Mutation frequencies in the tet gene showed to increase in the wild type and uvrA strains along with the number of psoralen adduts per plasmid molecule; higher mutation frequencies were found in cells that had been previously irradiated to induce the SOS expression. Mutant plasmids were isolated from ApRTcS colonies and sequenced by the method of Maxam and Gilbert. Mutations appeared to be unique in most of the cases and were always punctual, i.e. affecting only to one base pair. The relative positions of the mutations showed a high frequency of coincidence among the sequenced fragments, indicating the existence of several DNA regions with high probability to mutated ([sup h]ot spots[sup )]. (author)

  16. Mutation spectrum produced on PBR322 by 8-Methoxypsoralen plus UV-A light; Localizacion puntual de mutaciones producidas en PBR322 por tratamiento con 8-metoxipsoraleno mas luz ultravioleta-A

    Energy Technology Data Exchange (ETDEWEB)

    Bauluz, C.; Vidania, R.

    1990-12-31

    The mutagenic effect of 8-MOP+UVA (PUVA treatment) on pBR322 has been analysed by determining the frequency of mutation in the tet gene and identifying the type and position of the mutations produced inside a 276 pb-fragment (Bam-H1-SalI) of the same gene. pBR322 DNA was irradiated with UVA light in the presence of increasing concentrations of 8-Methoxypsoralen (8-MOP). The number of psoralen adducts formed in pBR322 upon that treatment ranged from 0 to 10.7 adducts per plasmid molecule. Modified DNA samples were used to transform several strains of E. Coli (differing in their repair capacities), both in constitutive conditions and after sos pre-induction by 254 nm-irradiation of cells. Mutation frequencies in the tet gene showed to increase in the wild type and uvrA strains along with the number of psoralen adduts per plasmid molecule; higher mutation frequencies were found in cells that had been previously irradiated to induce the SOS expression. Mutant plasmids were isolated from ApRTcS colonies and sequenced by the method of Maxam and Gilbert. Mutations appeared to be unique in most of the cases and were always punctual, i.e. affecting only to one base pair. The relative positions of the mutations showed a high frequency of coincidence among the sequenced fragments, indicating the existence of several DNA regions with high probability to mutated ({sup h}ot spots{sup )}. (author)

  17. Análisis de las mutaciones más frecuentes del gen BRCA1 (185delAG y 5382insC en mujeres con cáncer de mama en Bucaramanga, Colombia

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    María Carolina Sanabria

    2009-03-01

    Conclusión. Se requieren más estudios en la región que abarquen la tamización de la totalidad del gen BRCA1, para hacer una mayor contribución al conocimiento de la epidemiología molecular del cáncer de mama en Bucaramanga, Santander, Colombia.

  18. ¿Existe un síndrome nefrótico corticosensible con lesión mínima hereditario?

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    Sandalio Durán Álvarez

    Full Text Available Se presenta una revisión de las características hereditarias, presentación clínica y pronóstico de los síndromes nefróticos hereditarios que se han descubierto en los últimos años. La mayoría de los estudios están relacionados con síndromes nefróticos hereditarios con lesiones hísticas variadas y mala respuesta al tratamiento. Las mutaciones más frecuentes se producen en los genes NPHS2, NPHS1, WT1 y LAMB2, que producen glomeruloesclerosis focal segmentaria, síndrome nefrótico de tipo finés (enfermedad microquística, esclerosis mesangial difusa y síndrome de Pierson. También se han descrito mutaciones en los genes alfa-actinina 4 y TRPC6, las cuales producen síndrome nefrótico con glomeruloesclerosis focal de comienzo en el adulto. Se ha demostrado la presentación de un síndrome nefrótico familiar con lesión mínima y buena respuesta a los tratamientos, que parece ser producido por algún gen que puede codificar un factor desconocido, cuyo locus es 2p12-p13.2. Se han demostrado casos de síndrome nefrótico familiar que pueden tener patrones hereditarios autosómicos dominantes o recesivos, con evolución similar a la de sus progenitores o hermanos y que se corresponden con respuesta al tratamiento del síndrome nefrótico idiopático con lesión mínima. Se necesita continuar profundizando en el estudio de estos pacientes para precisar las distintas formas de herencia y el gen o genes involucrados en este síndrome nefrótico.

  19. A Survey on the HFE-related Technologies for the Improvements of Human Performance of Safety Personnel in Rail System

    International Nuclear Information System (INIS)

    Koo, I. S.; Park, G. O.; Suh, S. M.; Sim, Y. R.; Go, J. H.; Jeong, J. H.; Son, C. H.

    2005-08-01

    Many studies have shown that the most cases of rail accidents have occurred because of performing his/her tasks in inappropriate way. It is generally recognised that the rail system without human element could never be happened quite long time. So human element in rail system is going to be the major factor to the next tragic accident. This state-of-the-art report describes three major HFE-related technologies, training simulator, the integrated test facility for human factors engineering, and human performance evaluation system, that are used in the other industries including nuclear power industry for the purpose of increasing rail safety through out the improvement of human task performance. Base on this report, the way of developing those technologies that should be applied to the korean rail system is presented

  20. A Survey on the HFE-related Technologies for the Improvements of Human Performance of Safety Personnel in Rail System

    Energy Technology Data Exchange (ETDEWEB)

    Koo, I. S.; Park, G. O.; Suh, S. M.; Sim, Y. R.; Go, J. H.; Jeong, J. H.; Son, C. H

    2005-08-15

    Many studies have shown that the most cases of rail accidents have occurred because of performing his/her tasks in inappropriate way. It is generally recognised that the rail system without human element could never be happened quite long time. So human element in rail system is going to be the major factor to the next tragic accident. This state-of-the-art report describes three major HFE-related technologies, training simulator, the integrated test facility for human factors engineering, and human performance evaluation system, that are used in the other industries including nuclear power industry for the purpose of increasing rail safety through out the improvement of human task performance. Base on this report, the way of developing those technologies that should be applied to the korean rail system is presented.

  1. Los niños del Cauca II. Receptor de la vitamina D con secuencia normal en un foco de pacientes con raquitismo dependiente de la vitamina D, tipo II

    Directory of Open Access Journals (Sweden)

    Luis Fernando García-Ramirez

    1993-12-01

    Full Text Available El Raquitismo Dependiente de Vitamina D, tipo II (RDVD II, es una enfermedad de herencia autosómica recesiva que se caracteriza por resistencia generalizada a la 1,25-dihidroxivitamina D, originada en alteraciones que comprometen la función del receptor para la vitamina D (RVD. El clonaje y caracterización del cDNA del RVD ha permitido el estudio de su secuencia en pacientes con RDVD II y el hallazgo de diversas mutaciones puntuales que explican el cuadro clínico. En este estudio, hemos utilizado las técnicas de PCR y clonación, para secuenciar el RVD de dos pacientes pertenecientes a un foco descrito previamente en el departamento del Cauca (Colombia, cuyas manifestaciones clínicas y de laboratorio son compatibles con RDVD II. La secuencia del RVD de nuestros pacientes fue normal, sugiriendo una alteración a nivel postranscripcional o postraduccional relacionada con la función del receptor, en lo que podría corresponder a una nueva variante de resistencia a la vitamina D.

  2. Gender and plasma iron biomarkers, but not HFE gene mutations, increase the risk of colorectal cancer and polyps.

    Science.gov (United States)

    Castiella, Agustin; Múgica, Fernando; Zapata, Eva; Zubiaurre, Leire; Iribarren, Arantxa; de Juan, M Dolores; Alzate, Luis; Gil, Ines; Urdapilleta, Gregorio; Otazua, Pedro; Emparanza, José Ignacio

    2015-09-01

    A cohort study of patients included in the Basque Country colorectal cancer (CRC) screening programme was carried out to assess the risk of adenomatous polyps and CRC (P-CRC) associated with HFE gene mutations, with gender and with iron biomarkers (serum ferritin (SF), iron (Fe) and transferrin saturation index (TSI)). Among 432 included patients (mean age 59.8 years), 263 were men (60.9 %) and 169 women (39.1 %). P-CRC were identified in 221 patients (51.2 %) and no polyps (NP) in 211 patients (48.8 %). HFE mutations were identified in 43.8 % of the patients. C282Y/wt genotypic frequency was 6.8 % in the P-CRC group and 1.4 % in the NP group (p < 0.05). The allelic frequency was 3.8 versus 1.2 % (p < 0.05). For laboratory, all three iron biomarkers showed a statistically significant difference: mean Fe, 91.29 ± 34 for P-CRC and 80.81 ± 30.59 for NP group. Mean TSI for P-CRC was 24.95 ± 8.90 and 22.74 ± 8.79 for NP group. Mean SF 308.09 ± 536.32 for P-CRC and 177.55 ± 159.95 for NP group. In a multivariate logistic regression analysis, only male gender (odds ratio (OR) = 2.04, 1.29-3.22), SF (OR = 1.001, 1.0004-1.003) and Fe (OR = 1.01, 1.004-1.02) were related with the presence of CRC and adenoma. Men gender and raised serum iron biomarkers increase the risk of P-CRC.

  3. Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).

    Science.gov (United States)

    Branco, Claudia C; Gomes, Cidália T; De Fez, Laura; Bulhões, Sara; Brilhante, Maria José; Pereirinha, Tânia; Cabral, Rita; Rego, Ana Catarina; Fraga, Cristina; Miguel, António G; Brasil, Gracinda; Macedo, Paula; Mota-Vieira, Luisa

    2015-01-01

    Iron overload is associated with acquired and genetic conditions, the most common being hereditary hemochromatosis (HH) type-I, caused by HFE mutations. Here, we conducted a hospital-based case-control study of 41 patients from the São Miguel Island (Azores, Portugal), six belonging to a family with HH type-I pseudodominant inheritance, and 35 unrelated individuals fulfilling the biochemical criteria of iron overload compatible with HH type-I. For this purpose, we analyzed the most common HFE mutations- c.845G>A [p.Cys282Tyr], c.187C>G [p.His63Asp], and c.193A>T [p.Ser65Cys]. Results revealed that the family's HH pseudodominant pattern is due to consanguineous marriage of HFE-c.845G>A carriers, and to marriage with a genetically unrelated spouse that is a -c.187G carrier. Regarding unrelated patients, six were homozygous for c.845A, and three were c.845A/c.187G compound heterozygous. We then performed sequencing of HFE exons 2, 4, 5 and their intron-flanking regions. No other mutations were observed, but we identified the -c.340+4C [IVS2+4C] splice variant in 26 (74.3%) patients. Functionally, the c.340+4C may generate alternative splicing by HFE exon 2 skipping and consequently, a protein missing the α1-domain essential for HFE/ transferrin receptor-1 interactions. Finally, we investigated HFE mutations configuration with iron overload by determining haplotypes and genotypic profiles. Results evidenced that carriers of HFE-c.187G allele also carry -c.340+4C, suggesting in-cis configuration. This data is corroborated by the association analysis where carriers of the complex allele HFE-c.[187C>G;340+4T>C] have an increased iron overload risk (RR = 2.08, 95% CI = 1.40-2.94, poverload because they will produce two altered proteins--the p.63Asp [c.187G], and the protein lacking 88 amino acids encoded by exon 2. In summary, we provide evidence that the complex allele HFE-c.[187C>G;340+4T>C] has a role, as genetic predisposition factor, on iron overload in the S

  4. White blood cells and subtypes in HFE p.C282Y and wild-type homozygotes in the Hemochromatosis and Iron Overload Screening Study.

    Science.gov (United States)

    Barton, James C; Barton, J Clayborn; Acton, Ronald T

    2017-03-01

    The major histocompatibility complex is linked to white blood cell (WBC) and lymphocyte counts in subjects unselected for HFE genotypes. We compared age, sex, body mass index, total WBC and subtypes (neutrophils, lymphocytes, monocytes, eosinophils, basophils) (Beckman Coulter® Gen-S), transferrin saturation, and serum ferritin of HFE p.C282Y and wild-type (p.C282Y, p.H63D negative) homozygotes without acquired conditions that influence WBC counts. We performed regressions on WBC and subtypes. There were 161 p.C282Y homozygotes (45.3% men) and 221 wild-type homozygotes (40.3% men). Mean WBC of men and women and between HFE genotypes were similar. Mean lymphocytes were higher in male p.C282Y homozygotes: 1.6×10 9 /L [95% confidence interval: 1.5,1.7] vs. 1.4 [1.3,1.5], p=0.0002. Mean lymphocytes and basophils were higher in female p.C282Y homozygotes: 1.6 [1.5,1.7] vs. 1.4 [1.3,1.5], p=0.0002; and 0.065 [0.059,0.071] vs. 0.052 [0.051,0.054], p=0.0001, respectively. Transferrin saturation was associated with neutrophils (negative; p=0.0163). Age was associated with lymphocytes (negative; p=0.0003) and monocytes (positive; p<0.0001). Regressions on lymphocytes and basophils revealed positive associations with p.C282Y homozygosity (p=0.0043 and 0.0003, respectively). There were significant positive associations of neutrophils, lymphocytes, monocytes, and eosinophils. We conclude that HFE p.C282Y homozygosity is significantly associated with lymphocyte and basophil counts. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

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    Bittencourt P.L.

    2002-01-01

    Full Text Available The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72 years with HH. Eight patients (53% were homozygous and one (7% was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2 or homozygous (N = 1 for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

  6. Transferrin Level Before Treatment and Genetic Polymorphism in HFE Gene as Predictive Markers for Response to Adalimumab in Crohn's Disease Patients.

    Science.gov (United States)

    Repnik, Katja; Koder, Silvo; Skok, Pavel; Ferkolj, Ivan; Potočnik, Uroš

    2016-08-01

    Tumor necrosis factor α inhibitors (anti-TNF) have improved treatment of several complex diseases, including Crohn's disease (CD). However, the effect varies and approximately one-third of the patients do not respond. Since blood parameters as well as genetic factors have shown a great potential to predict response during treatment, the aim of the study was to evaluate response to anti-TNF treatment with adalimumab (ADA) between genes HFE and TF and haematological parameters in Slovenian refractory CD patients. Single nucleotide polymorphisms (SNPs) rs1799852 in gene TF and rs2071303 in gene HFE were genotyped in 68 refractory CD patients for which response has been measured using inflammatory bowel disease questionnaire (IBDQ) index. Haematological parameters and IBDQ index were determined before therapy and after 4, 12, 20 and 30 weeks. We found novel strong association between SNP rs2071303 in gene HFE and response to ADA treatment, particularly patients with G allele comparing to A allele had better response after 20 weeks (p = 0.008). Further, we found strong association between transferrin level at baseline and treatment response after 12, 20 and 30 weeks, where average transferrin level before therapy was lower in responders (2.38 g/L) compared to non-responders (2.89 g/L, p = 0.005). Association was found between transferrin level in week 30 and SNP rs1799852 (p = 0.023), and between MCHC level before treatment and SNP rs2071303 (p = 0.007). Our results suggest that SNP in gene HFE as well as haematological markers serve as promising prognostic markers of response to anti-TNF treatment in CD patients.

  7. Secuenciación genética y mutaciones cromosómicas en cepas de Mycobacterium tuberculosis resistentes a rifampicina

    Directory of Open Access Journals (Sweden)

    Alexander Galindo

    2000-07-01

    Full Text Available Los individuos afectados con Mycobacterium tuberculosis son más de un billon y cerca de 3,5 millones enferman anualmente en el mundo. La Organizaci6n Mundial de la Salud (OMS considera que estarnos ante una emergencia global de tuberculosis que podría provocar 200 millones de casos nuevos y 70 millones de muertes antes del 2020. Se estima que en 1998 fueron reportados 8.8 millones de casos nuevos y que fallecieron por esta causa cerca de 3 millones de personas, 6% de la mortalidad global del año, La alta incidencia en la población, la convierte en la principal causa de muerte en adultos en edad productiva, es decir de 15 a 49 años. Se considera que 80% de la población está dentro del grupo de alto riesgo que puede padecer esta enfermedad y se asume que más de 50 millones de personas están infectadas con cepas resistentes (Guerrero,1998 y Rattan 1998.

  8. MTHFR and HFE, but not preproghrelin and LBP, polymorphisms as risk factors for all-cause end-stage renal disease development.

    Science.gov (United States)

    Bloudíčková, S; Kuthanová, L; Hubáček, J A

    2014-01-01

    End-stage renal disease (ESRD) is a serious health problem worldwide. The high prevalence of cardiovascular diseases and chronic inflammation remains a major cause of morbidity and mortality in haemodialysed patients. Beside some external factors, genetic predisposition both to renal failure and poor prognosis has been assumed. We have collected a total of 1,014 haemodialysed patients and 2,559 unrelated healthy Caucasians. Single-nucleotide polymorphisms (SNPs) in genes for preproghrelin (GHRL), lipopolysaccharide-binding protein (LBP), HFE and MTHFR were genotyped. In the group of patients, significantly more carriers presented the MTHFR T667T (P = 0.002) and HFE Asp63Asp (P = 0.001) and Cys282Cys (P = 0.01) genotypes. The frequencies of individual SNPs within GHRL and LBP genes did not differ between the patients and controls. The trends in genotype frequencies did not differ between the subgroups of patients with different time on haemodialysis. Common variants in MTHFR and HFE could be a risk factor for all-cause ESRD development, but are not predictors for the survival on haemodialysis.

  9. Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil.

    Science.gov (United States)

    Alves, L N R; Santos, E V W; Stur, E; Silva Conforti, A M A; Louro, I D

    2016-04-27

    Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20). Using genomic DNA extracted from peripheral blood, polymorphic variant identification was performed by polymerase chain reaction-restriction fragment length polymorphism. Statistically significant differences were observed for genotype distribution of C282Y (P HFE gene allele frequencies for the general population, Pomeranian subpopulation, and patients with HH of ES, Brazil.

  10. Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis.

    Science.gov (United States)

    Katsarou, Martha-Spyridoula; Latsi, Rosana; Papasavva, Maria; Demertzis, Nikolaos; Kalogridis, Thodoris; Tsatsakis, Aristides M; Spandidos, Demetrios A; Drakoulis, Nikolaos

    2016-07-01

    Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by increased dietary iron absorption. Due to the absence of an effective excretory mechanism, the excess iron in the body may accumulate resulting in toxic effects. The HFE gene also affects the activity of hepcidin, a hormone which acts as a negative regulator of iron metabolism. In this study, we performed a population-based analysis of the distribution of three hemochromatosis-related polymorphisms in the HFE gene (rs1800562, rs1799945 and rs1800730). DNA from 1,446 non‑related individuals of Greek ethnicity was collected and analyzed, either from whole blood or buccal swabs. The frequency distribution of these HFE gene polymorphisms was then determined. The results revealed that in our Greek population cohort (gr) the frequencies of each polymorphism were as follows: rs1800562: GG (wild‑type)=97.0%, GA=1.5%, AA=1.5%; rs1799945: CC (wild‑type)=74.4%, CG=23.4%, GG=2.2%; rs1800730: AA (wild‑type)=98.1%, AT=1.5% and TT=0.4%. No association between the HFE polymorphisms rs1800562, rs1799945 and rs1800730 and gender could be established. As regards the rs1800562 polymorphism, the A allele (mutant) was ~1.8‑fold more frequent in the European population (eur) than in the Greek population [(gr)=2,3%<(eur)=4%]. As for the rs1799945 polymorphism, the G allele (mutant) was 1.2‑fold more frequent in the European population than in the Greek population [(gr)=13,9%<(eur)=17%]. As regards the rs1800730 polymorphism, the T allele (mutant) was ~1.7‑fold more frequent in the European population than in the Greek population [(gr)=1.2%<(eur)=2%]. However, these pathogenic mutations were found more frequently in the Greek population compared to the global population (gl) [rs1800562: (gl)=1%<(gr)=2,3%; rs1799945: (gl)=7%<(gr)=13,9%; rs1800730: (gl)=<1%<(gr)=1.2%]. This suggests that the Greek population may differ genetically from the northern European population

  11. Mutaciones de los usos del agua en la agricultura española durante la primera década del siglo XXI

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    Alfredo Morales Gil

    2010-01-01

    Full Text Available El análisis de la dinámica de cambio de los regadíos españoles en la primera década del siglo XXI es el objetivo de esta investigación. Éstos se caracterizan, grosso modo, por un continuo incremento de la superficie y la implantación de la modalidad de riego localizado. Éste aumento, a diferencia de décadas anteriores, se debe en gran medida a la expansión que han registrado las superficies ocupadas por olivar, viñedo y algunos cereales, cultivos tradicionalmente de secano, en comarcas que, con anterioridad a estas fechas, no tenían tradición en las prácticas del regadío, frente a la atonía de aprovechamientos como hortalizas o ciertos frutales.

  12. HFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload: an observational cross-sectional study.

    Science.gov (United States)

    De Souza, Geane Felix; Ribeiro, Howard Lopes; De Sousa, Juliana Cordeiro; Heredia, Fabíola Fernandes; De Freitas, Rivelilson Mendes; Martins, Manoel Ricardo Alves; Gonçalves, Romélia Pinheiro; Pinheiro, Ronald Feitosa; Magalhães, Silvia Maria Meira

    2015-04-03

    A relation between transfusional IOL (iron overload), HFE status and oxidative damage was evaluated. An observational cross-sectional study involving 87 healthy individuals and 78 patients with myelodysplastic syndromes (MDS) with and without IOL, seen at University Hospital of the Federal University of Ceará, Brazil, between May 2010 and September 2011. IOL was defined using repeated measures of serum ferritin ≥1000 ng/mL. Variations in the HFE gene were investigated using PCR/restriction fragment length polymorphism (RFLP). The biomarkers of oxidative stress (plasmatic malonaldehyde (MDA), glutathione peroxidase (GPx) and superoxide dismutase (SOD)) were determined by spectrophotometry. The HFE gene variations were identified in 24 patients (30.77%) and 5 volunteers (5.74%). The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL. One patient showed double heterozygous variant (C282Y/H63D) and serum ferritin of 11,649 ng/mL. In patients without IOL, the H63D variant was detected in 29.34%. Serum MDA levels were highest in patients with MDS with IOL, with a significant difference when compared with patients without IOL and healthy volunteers, pointing to the relationship between IOL and oxidative stress. The GPx and SOD were also significantly higher in these patients, indicating that lipid peroxidation increase was followed by an increase in antioxidant capacity. Higher ferritin levels were observed in patients with HFE gene variation. 95.7% of patients with MDS with the presence of HFE gene variations had received more of 20 transfusions. We observed a significant increase in MDA levels in patients with MDS and IOL, suggesting an increased lipid peroxidation in these patients. The accumulation of MDA alters the organisation of membrane phospholipids, contributing to the process of cellular degeneration. Results show that excess iron intensifies the process of cell damage through oxidative stress

  13. CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.

    Science.gov (United States)

    Pelucchi, Sara; Mariani, Raffaella; Calza, Stefano; Fracanzani, Anna Ludovica; Modignani, Giulia Litta; Bertola, Francesca; Busti, Fabiana; Trombini, Paola; Fraquelli, Mirella; Forni, Gian Luca; Girelli, Domenico; Fargion, Silvia; Specchia, Claudia; Piperno, Alberto

    2012-12-01

    Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and expression of hereditary hemochromatosis differ largely among cases of homozygous p.C282Y. Genetic factors might be involved in addition to environmental factors. In the present study, we analyzed 50 candidate genes involved in iron metabolism and evaluated the association between 214 single nucleotide polymorphisms in these genes and three phenotypic outcomes of iron overload (serum ferritin, iron removed and transferrin saturation) in a large group of 296 p.C282Y homozygous Italians. Polymorphisms were tested for genetic association with each single outcome using linear regression models adjusted for age, sex and alcohol consumption. We found a series of 17 genetic variants located in different genes with possible additive effects on the studied outcomes. In order to evaluate whether the selected polymorphisms could provide a predictive signature for adverse phenotype, we re-evaluated data by dividing patients in two extreme phenotype classes based on the three phenotypic outcomes. We found that only a small improvement in prediction could be achieved by adding genetic information to clinical data. Among the selected polymorphisms, a significant association was observed between rs3806562, located in the 5'UTR of CYBRD1, and transferrin saturation. This variant belongs to the same haplotype block that contains the CYBRD1 polymorphism rs884409, found to be associated with serum ferritin in another population of p.C282Y homozygotes, and able to modulate promoter activity. A luciferase assay indicated that rs3806562 does not have a significant functional role, suggesting that it is a genetic marker linked to the putative genetic modifier rs884409. While our results support the hypothesis that polymorphisms in genes regulating iron metabolism may modulate penetrance of HFE-hereditary hemochromatosis, with emphasis on

  14. Paciente con esquizofrenia tratado con ziprasidona + clozapina

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    Pol Yanguas E.

    2013-05-01

    Full Text Available P es un paciente diagnosticado de esquizofrenia, sigue en un piso tutelado un programa de rehabilitación, está medicado con clozapina 500 mg/día y ziprasidona 280 mg/ día. Padece hipercolesterolemia, tabaquismo y sus hábitos alimenticios no son buenos. La medicación que utiliza desde 2007 hasta ahora se refleja en la tabla 1. El último tratamiento se le introdujo el 7 de agosto de 2012, habiendo presentado un electro cardiograma (ECG normal, pero con ligera taquicardia ventricular y prolactinemia de 44,8 ng/ml (valores normales: 2-18 ng/ml.

  15. Association between embB mutations and ethambutol resistance in Mycobacterium tuberculosis isolates from Cuba and the Dominican Republic: reproducible patterns and problems Asociación entre las mutaciones en embB y la resistencia a etambutol en aislamientos de Mycobacterium tuberculosis de Cuba y República Dominicana: patrones y problemas reproducibles

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    Elba Guerrero

    2013-03-01

    Full Text Available The relation of ethambutol resistance to embB mutations remains unclear, and there are no reports on ethambutol resistance from the Caribbean. We examined the sequence of embB in 57 distinct Multi-Drug Resistant (MDR and non-MDR strains of Mycobacterium tuberculosis, mostly from Cuba and the Dominican Republic. embB306 codon mutations were found exclusively in MDR-TB, but in both ethambutol sensitive and resistant strains. Valine substitutions predominated in ethambutol resistant strains, while isoleucine replacements were more common in sensitive strains. Three ethambutol resistant MDR strains without embB306 substitutions had replacements in embB406 or embB497, but these were also found in ethambutol sensitive MDR strains. The results confirm previous findings that amino acid substitutions in EmbB306, EmbB406 and EmbB497 are found only in MDR-TB strains but in both phenotypically resistant and sensitive strains. One ethambutol resistant non-MDR strain did not have any embB mutation suggesting that other undefined mutations can also confer ethambutol resistance.La relación entre resistencia a etambutol y mutaciones en embB no se ha establecido claramente y no existen comunicaciones sobre la resistencia a etambutol en cepas provenientes de países Caribeños. Se evaluó la secuencia del gen embB en 57 cepas de Mycobacterium tuberculosis multi-drogo resistentes (MDR y no-MDR, la mayoría aislada en Cuba y República Dominicana. Se encontraron mutaciones en el codón embB306 exclusivamente en cepas MDR, tanto en cepas sensibles como resistentes a etambutol. Tres cepas MDR resistentes a etambutol, sin sustituciones en embB306, tenían mutaciones en los codones embB406 o embB497, pero estos cambios se encontraron también en cepas sensibles. Los resultados confirman otros estudios, mostrando que sustituciones aminoacídicas en EmbB306, EmbB406 y EmbB497 se encuentran exclusivamente en cepas MDR, tanto resistentes como sensibles a etambutol

  16. Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro Study of C282Y, H63D and S65C mutations in the HFE gene in Brazilian patients with iron overload

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    Rodolfo D. Cançado

    2007-12-01

    Full Text Available Hemocromatose é uma das doenças genéticas mais freqüentes no ser humano e uma das causas mais importantes de sobrecarga de ferro. Os objetivos deste estudo foram determinar a freqüência das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro, verificar a coexistência de anemia hemolítica hereditária, hepatite C e consumo excessivo de bebida alcoólica nestes doentes e avaliar a influência destas variáveis sobre os depósitos de ferro do organismo. Saturação da transferrina, ferritina sérica e análise das mutações C282Y, H63D e S65C do gene HFE, pelo método da PCR, foram determinadas em cinqüenta doentes com sobrecarga de ferro atendidos no Hemocentro da Santa Casa de São Paulo entre janeiro de 2000 e maio de 2004. A freqüência de mutação do gene HFE nos doentes com sobrecarga de ferro foi de 76,0% (38/50. Saturação da transferrina e ferritina foram significativamente maiores nos doentes homozigotos para a mutação C282Y confirmando a correlação entre genótipo C282Y/C282Y e maior risco de sobrecarga de ferro. A coexistência de hepatite C, consumo excessivo de bebida alcoólica ou anemia hemolítica hereditária estão implicados em aumento dos estoques de ferro e constituem fator de risco adicional em pacientes com mutação do gene HFE para a condição de sobrecarga de ferro.Hemochromatosis is one of the most frequent genetic diseases in humans and one of the most important causes of iron overload. The aims of this study were to determine the frequency of C282Y, H63D and S65C mutations of the HFE gene in Brazilian patients with iron overload, to verify the coexistence of chronic hemolytic anemia, hepatitis C and excessive alcohol consumption and to evaluate the influence of these variables on body iron deposits. Transferrin saturation, serum ferritin and C282Y, H63D and S65C HFE gene mutations (by PCR method were determined in 50 patients with iron overload in the Hemocentro da

  17. La protección del software en Cuba. Comparación con otros países latinoamericanos.

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    Nerbys Hernández Dorta

    2009-10-01

    Full Text Available En los últimos años los asuntos relacionados con la Propiedad Intelectual han ido cobrando importancia, por lo que la legislación en ese sentido ha tenido que sufrir mutaciones que la han llevado a la búsqueda de estructuras que le permitan desarrollarse en toda su extensión. El proceso de digitalización que se diversificó con la aparición de la Sociedad de la Información, entrañó la aparición de una nueva categoría de obras que se debían insertar en las concepciones de los Derechos de Propiedad Intelectual, pues aparecían bienes intangibles con una naturaleza diferente a los ya conocidos, entre ellos el software, el cual ha sido objeto de un polémico debate en cuanto a la necesidad de su protección. Desde su creación se ha tratado de determinar una figura que le diera amparo legal, y para ello siempre se mantuvo en el derecho de las invenciones, el derecho de autor y una protección sui generis. Es por ello que se realizó una revisión de la legislación existente en la materia para de forma concreta proporcionarles información a los interesados en el tema sobre la protección legal de los programas de ordenador en Cuba; así como su comparación con legislaciones en esta materia en países como Bolivia y Venezuela.

  18. ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

    Science.gov (United States)

    Di Martino, Julie; Ruiz, Mathias; Garin, Roman; Restier, Lioara; Belmalih, Abdelouahed; Marchal, Christelle; Cullin, Christophe; Arveiler, Benoit; Fergelot, Patricia; Gitler, Aaron D.; Lachaux, Alain; Couthouis, Julien

    2017-01-01

    Background The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. Methods We used an innovative approach combining yeast genetic screens with next generation exome sequencing to identify and functionally characterize the genes involved in 1ATD associated liver disease. Results Using yeast genetic screens, we identified HRD1, an Endoplasmic Reticulum Associated Degradation (ERAD) associated protein, as an inducer of Z-mediated toxicity. Whole exome sequencing of 1ATD patients resulted in the identification of two variants associated with liver damages in Z-1AT homozygous cases: HFE H63D and HERPUD1 R50H. Functional characterization in Z-1AT model cell lines demonstrated that impairment of the ERAD machinery combined with the HFE H63D variant expression decreased both cell proliferation and cell viability, while Unfolded Protein Response (UPR)-mediated cell death was hyperstimulated. Conclusion This powerful experimental pipeline allowed us to identify and functionally validate two genes involved in Z-1AT-mediated severe liver toxicity. This pilot study moves forward our understanding on genetic modifiers involved in 1ATD and highlights the UPR pathway as a target for the treatment of liver diseases associated with 1ATD. Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis. PMID:28617828

  19. The association between the C282Y and H63D polymorphisms of HFE gene and the risk of Parkinson's disease: A meta-analysis.

    Science.gov (United States)

    Xia, Jianjian; Xu, Huamin; Jiang, Hong; Xie, Junxia

    2015-05-19

    Impaired brain iron homeostasis has been considered as an important mechanism in Parkinson's diseases (PD). There are indications that C282Y and H63D polymorphisms of HFE genes involved in iron metabolism might contribute to the pathogenesis of PD in some cases. However, the investigation of the relationship between PD and the two polymorphisms had produced contradictory results. We performed a meta-analysis to assess the C282Y and H63D polymorphisms of HFE in PD susceptibility. PubMed, EMBASE and Web of Science were systematically searched to identify relevant researches. The strict selection criteria and exclusion standard were applied. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of associations. A fixed-effect or random-effect model was selected, depending on the results of the heterogeneity test. Fifteen studies were included in the meta-analysis (eight studies with 1631 cases and 4548 controls for C282Y; seven studies with 1192 cases and 4065 controls for H63D). For the C282Y polymorphism, significant associations were observed in the Recessive model (YY vs CY+CC: OR=0.22, 95% CI=0.09-0.57, P=0.002). This indicated that the C282Y polymorphism in HFE might be a potential protective factor for PD. However, no significant associations were found for any genetic model for the H63D polymorphism, suggesting that the H63D polymorphism might not be associated with PD. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  20. [ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE].

    Science.gov (United States)

    Krivosheev, A B; Maximov, V N; Voevoda, M I; Kuimov, A D; Kondratova, M A; Tuguleva, T A; Koval, O N; Bezrukova, A A; Bogorianova, P A; Rybina, O V

    2015-01-01

    The aim of the present work was to study the frequency of genotypes and alleles of C282Y and H63D HFE gene that may be associated with impaired porphyrin metabolism, as well as possible reasons for the formation of dysmetabolism porphyrins with NAFLD. The study involved 65 patients (52 men and 13 women) aged 21 to 69 years (mean age 48.5±1.5 years). Excretion uroporphyrin, coproporphyrin, 6-aminolevulinic acid of porphobilinogen in urine was determined by chromatography and spectrophotometry calculated total excretion of porphyrins. Allele frequencies C282Y and H63D were determined during the molecular genetic analysis of DNA using the polymerase chain reaction followed by analysis of length polymorphism restraktsionnyh fragments. Condition of carbohydrate metabolism was evaluated by the level of fasting blood glucose and standard glucose tolerance test. Diagnosis of insulin resistance was performed according to the criteria proposed by the European Group for the Study of insulin resistance (EGIR). Skill test for the C282Y mutation carriage and H63D in the HFE gene in 65 patients with non-alcoholic fatty liver disease. Disturbances in the metabolism of porphyrins were recorded in 43 (66.2%) patients. H63D and C282Y mutations were found in 18 (27.7%) patients, of whom 13 (72.2%) people with different options dismetabolism porphyrins and signs of insulin resistance. In 47 (72.3%) patients without mutations studied porphyrin metabolism disorders were detected in 30 (63.8 %), of which insulin resistance is registered only in 16 (34.0 %). Detection of mutations C282Y and H63D in the HFE gene in combination with disorders of porphyrin metabolism on the background of insulin resistance is likely to allow such patients considered as candidates for inclusion in the higher risk of formation of diabetes.

  1. Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women

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    Arroyo-Pardo Eduardo

    2011-10-01

    Full Text Available Abstract Background Iron deficiency anaemia is a worldwide health problem in which environmental, physiologic and genetic factors play important roles. The associations between iron status biomarkers and single nucleotide polymorphisms (SNPs known to be related to iron metabolism were studied in menstruating women. Methods A group of 270 Caucasian menstruating women, a population group at risk of iron deficiency anaemia, participated in the study. Haematological and biochemical parameters were analysed and 10 selected SNPs were genotyped by minisequencing assay. The associations between genetic and biochemical data were analysed by Bayesian Model Averaging (BMA test and decision trees. Dietary intake of a representative subgroup of these volunteers (n = 141 was assessed, and the relationship between nutrients and iron biomarkers was also determined by linear regression. Results Four variants, two in the transferrin gene (rs3811647, rs1799852 and two in the HFE gene (C282Y, H63D, explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels. No association between nutrient intake and iron biomarkers was found. Conclusions In contrast to dietary intake, these four SNPs are strongly associated with serum transferrin. Carriers of the minor allele of rs3811647 present a reduction in iron transport to tissues, which might indicate higher iron deficiency anaemia risk, although the simultaneous presence of the minor allele of rs1799852 and HFE mutations appear to have compensatory effects. Therefore, it is suggested that these genetic variants might potentially be used as markers of iron deficiency anaemia risk.

  2. Videojuego con Realidad Virtual

    OpenAIRE

    González Mora, César

    2017-01-01

    El objetivo del proyecto es el desarrollo de un videojuego deportivo que utilice realidad mixta. El videojuego se podrá utilizar con dispositivos de tipo cardboard, y utilizará realidad aumentada para la interacción del jugador con el videojuego. En el desarrollo se utilizará el motor Unity para conseguir una aplicación multiplataforma, y la librería Vuforia para implementar realidad mixta.

  3. Sistemas integrados con Arduino

    OpenAIRE

    EL YAKOUTI, MOHAMMED

    2017-01-01

    Design of a robot prototype remotely controllable from Bluetooth using Arduino. Control and testing of sensors and events interacting with Arduino and Bluetooth. Diseño de un prototipo de robot controlable remotamente con Bluetooth utilizando Arduino. Control y verificación de los sensores y eventos que interactúan mediante el Arduino y el Bluetooth. El Yakouti, M. (2017). Sistemas integrados con Arduino. http://hdl.handle.net/10251/89274. TFGM

  4. Investigando con personas con dificultades de aprendizaje

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    Borja González Luna

    2013-12-01

    Full Text Available El artículo muestra los orígenes de lo que Walmsley (2008 denomina «investigación inclusiva». Para comprender qué se entiende por investigación inclusiva tenemos que remontarnos a los debates epistemológicos sobre las metodologías cuantitativas y cualitativas, acontecidos en la década de los 90, en torno a la revista Disability & Society. A partir de una síntesis de dichos debates, focalizados en el ámbito de la «discapacidad intelectual y del desarrollo», se exponen dos estrategias de colaboración con dicha población: a una aproximación etnográfica (de trabajo grupal, y b una aproximación biográfica (de trabajo individual. A continuación se esboza un posible diseño de trabajo de campo que intenta superar el paradigma cualitativo «clásico» con el objetivo de incluir a dicho colectivo más allá del rol de «sujetos de la investigación». Para finalizar se recoge el debate sobre la accesibilidad de los resultados de la investigación a los participantes en dichas investigaciones, y con ello la necesaria innovación en el ámbito de las «devoluciones» de los resultados, cuando se trata de incluir a personas que presentan limitaciones para la comprensión del lenguaje abstracto oral y/o escrito.

  5. Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.

    Science.gov (United States)

    Nielsen, Peter B; Petersen, Maja S; Ystaas, Viviana; Andersen, Rolf V; Hansen, Karin M; Blaabjerg, Vibeke; Refstrup, Mette

    2012-10-01

    Classical hereditary hemochromatosis involves the HFE-gene and diagnostic analysis of the DNA variants HFE p.C282Y (c.845G>A; rs1800562) and HFE p.H63D (c.187C>G; rs1799945). The affected protein alters the iron homeostasis resulting in iron overload in various tissues. The aim of this study was to validate the TaqMan-based Sample-to-SNP protocol for the analysis of the HFE-p.C282Y and p.H63D variants with regard to accuracy, usefulness and reproducibility compared to an existing SNP protocol. The Sample-to-SNP protocol uses an approach where the DNA template is made accessible from a cell lysate followed by TaqMan analysis. Besides the HFE-SNPs other eight SNPs were used as well. These SNPs were: Coagulation factor II-gene F2 c.20210G>A, Coagulation factor V-gene F5 p.R506Q (c.1517G>A; rs121917732), Mitochondria SNP: mt7028 G>A, Mitochondria SNP: mt12308 A>G, Proprotein convertase subtilisin/kexin type 9-gene PCSK9 p.R46L (c.137G>T), Plutathione S-transferase pi 1-gene GSTP1 p.I105V (c313A>G; rs1695), LXR g.-171 A>G, ZNF202 g.-118 G>T. In conclusion the Sample-to-SNP kit proved to be an accurate, reliable, robust, easy to use and rapid TaqMan-based SNP detection protocol, which could be quickly implemented in a routine diagnostic or research facility. Copyright © 2012. Published by Elsevier B.V.

  6. The influence of iron status and genetic polymorphisms in the HFE gene on the risk for postoperative complications after bariatric surgery: a prospective cohort study in 1,064 patients

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    Freedman-Weiss Mollie

    2011-01-01

    Full Text Available Abstract Background Gastric bypass surgery is a highly effective therapy for long-term weight loss in severely obese patients, but carries significant perioperative risks including infection, wound dehiscence, and leaks from staple breakdown. Iron status can affect immune function and wound healing, thus may influence peri-operative complications. Common mutations in the HFE gene, the gene responsible for the iron overload disorder hereditary hemochromatosis, may impact iron status. Methods We analyzed 1064 extremely obese Caucasian individuals who underwent open and laparoscopic Roux-n-Y gastric bypass surgery at the Geisinger Clinic. Serum iron, ferritin, transferrin, and iron binding capacity were measured pre-operatively. All patients had intra-operative liver biopsies and were genotyped for the C282Y and H63D mutations in the HFE gene. Associations between surgical complications and serum iron measures, HFE gene status, and liver iron histology were determined. Results We found that increased serum iron and transferrin saturation were present in patients with any post-operative complication, and that increased serum ferritin was also increased in patients with major complications. Increased serum transferrin saturation was also associated with wound complications in open RYGB, and transferrin saturation and ferritin with prolonged lengths of stay. The presence of 2 or more HFE mutations was associated with overall complications as well as wound complications in open RYGB. No differences were found in complication rates between those with stainable liver iron and those without. Conclusion Serum iron status and HFE genotype may be associated with complications following RYGB surgery in the extremely obese.

  7. Screening for BRCA1 and BRCA2 mutations in breast cancer patients from mexico: the public health perspective Tamizaje de BRCA1 y BRCA2 en pacientes con cáncerde mama en méxico: perspectiva de la salud pública

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    Steven A Narod

    2009-01-01

    Full Text Available Genetic testing for mutations in BRCA1 and BRCA2 has potentially important public health implications. Through judicious testing of women believed to be at high risk for early-onset breast cancer and for ovarian cancer, it is possible to identify highly-predisposed women prior to the development of cancer. Current preventive options include preventive mastectomy, preventive oophorectomy, tamoxifen and oral contraceptives. The ability to offer genetic testing in Mexico on a widespread level is enhanced if the common founder mutations in the two genes can be discovered or if the cost of genetic sequencing is reduced. It is important that a genetic testing service be a multi-disciplinary effort with co-ordinated follow-up.Los exámenes genéticos para las mutaciones en el BRCA 1 y el BRCA 2 tienen potencialmente una importante implicación en materia de salud pública. A través de exámenes juiciosos en mujeres en las que se cree que tienen un riesgo alto de padecer cáncer de mama y de ovario de inicio temprano, es posible identificar mujeres con una alta predisposición antes de que éstas desarrollen el cáncer de mama. Dentro de las medidas preventivas actuales se incluyen la mastectomía, la ooforectomía, el tamoxifen y los anticonceptivos orales. En México, la habilidad para ofrecer exámenes genéticos a nivel poblacional se vería favorecida si se pudiesen descubrir las mutaciones fundadoras en los dos genes o si el costo del secuenciamiento genético fuese reducido. Es muy importante que el servicio de los exámenes genéticos sea el resultado de un esfuerzo multidisciplinario con seguimiento coordinado de los pacientes.

  8. Giochiamo con i robot

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    Andrea Bonarini

    2009-01-01

    Full Text Available "Giochiamo con i robot" e' un laboratorio interattivo per grandi e piccini realizzato per l'edizione 2007 del Festival della Scienza di Genova. Lungo un percorso che va dalla telerobotica alla robotica evolutiva, il laboratorio sviluppa il tema di dare intelligenza ai robot. Questo percorso, le cui tappe sono le varie installazioni, si conclude nella "bottega" dove e' possibile costruire e programmare i propri robot o smontare e modificare quelli esposti durante il percorso didattico. I visitatori sono coinvolti in attivita' ludiche grazie alle quali possonoentrare in contatto con alcune delle idee potenti della robotica,

  9. disegnare con ... Alberto Pratelli

    Directory of Open Access Journals (Sweden)

    Roberto Mingucci

    2017-12-01

    Full Text Available Con questa breve intervista ad Alberto Pratelli, (non a caso scelto per aprire questa nuova rubrica intendia-mo inaugurare un dialogo con personalità significati-ve del Disegno di Architettura, che consenta riflessioni dedicate alle sue varie dimensioni, oggi più che mai da approfondire. La suggestione a farlo, viene da un’idea di Pablo Rodri-guez Navarro ed abbiamo quindi pensato di avviarla proprio in questo numero, che Pablo ha accettato di curare su un tema a lui particolarmente caro.

  10. Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

    Science.gov (United States)

    Mikhailova, S V; Babenko, V N; Ivanoshchuk, D E; Gubina, M A; Maksimov, V N; Solovjova, I G; Voevoda, M I

    2016-06-17

    Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis. We assumed that analysis of Caucasoid patients-living now in Western Siberia and having diseases associated with dietary habits and metabolic rate-will allow us to understand the processes of possible selection during settling of the northern part of Asia. Haplotype analysis of Northern Eurasian native and recently settled ethnic groups was performed on polymorphisms rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, rs1572982, rs2794719, rs807209, and rs2032451 of this gene. The CCA haplotype of the rs2071303, rs1800708, and rs1572982 was found to be associated with HLA-A2 (39 %) in Asian populations. Haplotype analysis for the rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, and rs1572982 was performed on Russian patients with some metabolic disorders or stomach cancer and among long-lived people. Decreased frequencies of the TTA haplotype (T in rs2071303, T in rs1800708, and A in rs1572982) were observed in the groups of patients with diseases associated with overweight (fatty liver disease, type 2 diabetes mellitus, or metabolic syndrome + arterial hypertension) as compared with the control sample. We detected significant differences in this haplotype's frequency between the patients with type 2 diabetes mellitus and Russian adolescents, elderly citizens, and long-lived people (χ(2) P value = 0.003, 0.010, and 0.015, respectively). No significant differences in frequencies of the alleles with mutations in coding regions of the HFE gene (C282Y, H63D, and S65C) were detected between the analyzed patients (with stomach cancer, metabolic syndrome, fatty liver disease, or type 2 diabetes mellitus) and the control Caucasoid sample. Monophyletic origin of H63D (rs1799945) was confirmed in Caucasoids and Northern

  11. Conversando con Oriol Bohigas

    OpenAIRE

    Redondo Domínguez, Ernesto; Moya Sala, Joaquim

    2015-01-01

    [EN] Interview with Oriol Bohigas [ES] Entrevista con Oriol Bohigas Redondo Domínguez, E.; Moya Sala, J. (2015). Conversando con… Oriol Bohigas. EGA. Revista de Expresión Gráfica Arquitectónica. 20(26):22-35. doi:10.4995/ega.2015.4061 22 35 20 26

  12. DR Con o:

    African Journals Online (AJOL)

    which could fall under the Ugandan influence. The con-. flict in the ..... The Congolese people and international community within SADC, the AU ..... ments and make peace among themselves. However, one ... friends overnight.There is a great ...

  13. fertilizada con diferentes abonos

    Directory of Open Access Journals (Sweden)

    Jorge Alberto Elizondo-Salazar

    2007-01-01

    Full Text Available Producción y calidad de la biomasa de morera (Morus alba fertilizada con diferentes abonos. Se llevó a cabo un experimento en la Estación Experimental “Alfredo Volio Mata” de la Universidad de Costa Rica con el fi n de evaluar la aplicación de 150 kg de N/ha/año proveniente de dos abonos orgánicos: lombriabono y compostaje; y de un fertilizante químico, sobre la producción y calidad de la biomasa de morera. El periodo experimental comprendió un ciclo de 12 meses, iniciando en julio del 2003 y fi nalizando en julio del 2004. Se utilizó una plantación de morera de 12 años de establecida con una densidad de siembra de 27.777 plantas/ ha. Se empleó un diseño de bloques completos al azar con cuatro tratamientos: dos abonos orgánicos, nitrato de amonio (33,5% N y un control. Las plantas se podaron a 0,6 m sobre el nivel del suelo al inicio del ensayo. Durante el periodo experimental, las plantas fueron podadas consecutivamente cada 90 días. Las hojas y los tallos fueron separados y analizados para determinar el contenido de materia seca y proteína cruda. La producción de materia seca fue 23% superior y el contenido de proteína cruda fue signifi cativamente mayor con el nitrógeno químico, mientras que el contenido de materia seca fue menor. No se encontraron diferencias signifi cativas entre el tratamiento control y los tratamientos orgánicos.

  14. The Effects of Degraded Digital Instrumentation and Control Systems on Human-system Interfaces and Operator Performance: HFE Review Guidance and Technical Basis

    International Nuclear Information System (INIS)

    O'Hara, J.M.; Gunther, W.; Martinez-Guridi, G.

    2010-01-01

    New and advanced reactors will use integrated digital instrumentation and control (I and C) systems to support operators in their monitoring and control functions. Even though digital systems are typically highly reliable, their potential for degradation or failure could significantly affect operator performance and, consequently, impact plant safety. The U.S. Nuclear Regulatory Commission (NRC) supported this research project to investigate the effects of degraded I and C systems on human performance and plant operations. The objective was to develop human factors engineering (HFE) review guidance addressing the detection and management of degraded digital I and C conditions by plant operators. We reviewed pertinent standards and guidelines, empirical studies, and plant operating experience. In addition, we conducted an evaluation of the potential effects of selected failure modes of the digital feedwater system on human-system interfaces (HSIs) and operator performance. The results indicated that I and C degradations are prevalent in plants employing digital systems and the overall effects on plant behavior can be significant, such as causing a reactor trip or causing equipment to operate unexpectedly. I and C degradations can impact the HSIs used by operators to monitor and control the plant. For example, sensor degradations can make displays difficult to interpret and can sometimes mislead operators by making it appear that a process disturbance has occurred. We used the information obtained as the technical basis upon which to develop HFE review guidance. The guidance addresses the treatment of degraded I and C conditions as part of the design process and the HSI features and functions that support operators to monitor I and C performance and manage I and C degradations when they occur. In addition, we identified topics for future research.

  15. The Effects of Degraded Digital Instrumentation and Control Systems on Human-system Interfaces and Operator Performance: HFE Review Guidance and Technical Basis

    Energy Technology Data Exchange (ETDEWEB)

    O' Hara, J.M.; W. Gunther, G. Martinez-Guridi

    2010-02-26

    New and advanced reactors will use integrated digital instrumentation and control (I&C) systems to support operators in their monitoring and control functions. Even though digital systems are typically highly reliable, their potential for degradation or failure could significantly affect operator performance and, consequently, impact plant safety. The U.S. Nuclear Regulatory Commission (NRC) supported this research project to investigate the effects of degraded I&C systems on human performance and plant operations. The objective was to develop human factors engineering (HFE) review guidance addressing the detection and management of degraded digital I&C conditions by plant operators. We reviewed pertinent standards and guidelines, empirical studies, and plant operating experience. In addition, we conducted an evaluation of the potential effects of selected failure modes of the digital feedwater system on human-system interfaces (HSIs) and operator performance. The results indicated that I&C degradations are prevalent in plants employing digital systems and the overall effects on plant behavior can be significant, such as causing a reactor trip or causing equipment to operate unexpectedly. I&C degradations can impact the HSIs used by operators to monitor and control the plant. For example, sensor degradations can make displays difficult to interpret and can sometimes mislead operators by making it appear that a process disturbance has occurred. We used the information obtained as the technical basis upon which to develop HFE review guidance. The guidance addresses the treatment of degraded I&C conditions as part of the design process and the HSI features and functions that support operators to monitor I&C performance and manage I&C degradations when they occur. In addition, we identified topics for future research.

  16. Lymphocyte gene expression signatures from patients and mouse models of hereditary hemochromatosis reveal a function of HFE as a negative regulator of CD8+ T-lymphocyte activation and differentiation in vivo.

    Science.gov (United States)

    Costa, Mónica; Cruz, Eugénia; Oliveira, Susana; Benes, Vladimir; Ivacevic, Tomi; Silva, Maria João; Vieira, Inês; Dias, Francisco; Fonseca, Sónia; Gonçalves, Marta; Lima, Margarida; Leitão, Catarina; Muckenthaler, Martina U; Pinto, Jorge; Porto, Graça

    2015-01-01

    Abnormally low CD8+ T-lymphocyte numbers is characteristic of some patients with hereditary hemochromatosis (HH), a MHC-linked disorder of iron overload. Both environmental and genetic components are known to influence CD8+ T-lymphocyte homeostasis but the role of the HH associated protein HFE is still insufficiently understood. Genome-wide expression profiling was performed in peripheral blood CD8+ T lymphocytes from HH patients selected according to CD8+ T-lymphocyte numbers and from Hfe-/- mice maintained either under normal or high iron diet conditions. In addition, T-lymphocyte apoptosis and cell cycle progression were analyzed by flow cytometry in HH patients. HH patients with low CD8+ T-lymphocyte numbers show a differential expression of genes related to lymphocyte differentiation and maturation namely CCR7, LEF1, ACTN1, NAA50, P2RY8 and FOSL2, whose expression correlates with the relative proportions of naïve, central and effector memory subsets. In addition, expression levels of LEF1 and P2RY8 in memory cells as well as the proportions of CD8+ T cells in G2/M cell cycle phase are significantly different in HH patients compared to controls. Hfe-/- mice do not show alterations in CD8+ T-lymphocyte numbers but differential gene response patterns. We found an increased expression of S100a8 and S100a9 that is most pronounced in high iron diet conditions. Similarly, CD8+ T lymphocytes from HH patients display higher S100a9 expression both at the mRNA and protein level. Altogether, our results support a role for HFE as a negative regulator of CD8+ T-lymphocyte activation. While the activation markers S100a8 and S100a9 are strongly increased in CD8+ T cells from both, Hfe-/- mice and HH patients, a differential profile of genes related to differentiation/maturation of CD8+ T memory cells is evident in HH patients only. This supports the notion that HFE contributes, at least in part, to the generation of low peripheral blood CD8+ T lymphocytes in HH.

  17. pacientes con falla cardiaca

    Directory of Open Access Journals (Sweden)

    Diana Marcela Achury Saldaña

    2007-01-01

    Full Text Available Objetivo: determinar la adherencia al tratamiento de pacientes con falla cardiaca hospitalizados, al aplicar un plan educativo quefomenta el autocuidado.Método: estudio cuasiexperimental (entrevistas enfermera-paciente realizado entre diciembre de 2004 y mayo de 2006, con unamuestra de 50 pacientes seleccionados por conveniencia. Se diseñó un instrumento para evaluar los comportamientos de los pacientes,con base en algunos resultados de la adherencia y sus respectivos indicadores de la taxonomía NOC (Nursing out comes classification. Laadherencia al tratamiento fue medida en dos momentos: el primero durante la hospitalización, seguido de la aplicación del plan educativoantes del alta, que proporcionaba información en el manejo de su enfermedad desde una dimensión física, psicológica y social quepromueve el autocuidado; y el segundo un mes después del alta en su domicilio.Resultados: diferencias estadísticamente significativas (P=0,0001 que demuestran cómo mediante la capacitación al paciente enel manejo de su tratamiento farmacológico y no farmacológico, el establecimiento de una sana relación entre el profesional de enfermeríay el paciente, y la participación de la familia, se logra una total adherencia al tratamiento.Conclusiones: para lograr una adherencia total del paciente con falla cardiaca al tratamiento es necesario un proceso educativo y unseguimiento continuo y personalizado que motive permanentemente al paciente y se le reconozca el papel protagónico en su cuidado y manejo de la enfermedad.

  18. Nueva mutación heterocigota en el gen de la proteína regulatoria aguda de la esteroideogénesis (StAR en un paciente 46,XY con hiperplasia adrenal congénita lipoidea

    Directory of Open Access Journals (Sweden)

    María Sonia Baquedano

    2013-08-01

    Full Text Available StAR forma parte del complejo multiproteico transduceosoma, encargado del transporte de colesterol y que facilita su entrada a la mitocondria. Mutaciones recesivas en el gen STAR causan formas clásicas y no clásicas de hiperplasia adrenal congénita lipoidea. Analizamos las consecuencias moleculares de una nueva mutación heterocigota en STAR en un paciente 46,XY con genitales ambiguos e insuficiencia adrenal. Hallamos un cambio heterocigota de novo, IVS1-2A>G, en el gen STAR y el polimorfismo heterocigota, pG146A, en SF1. No se detectaron mutaciones en los genes CYP11A1, FDX1 y FDXR, VDAC1 y TSPO. Por RT-PCR y secuenciación se observó un transcripto-exón2 y el transcripto normal (WT de StAR, a partir del ARN de tejido gonadal del paciente. Se detectó el precursor (37 kD y la proteína StAR madura (30 kD en células COS-7 transfectadas con el plásmido mutante y WT. Por inmunofluorescencia la observación de co-localización de la proteína mutante (p.G22_L59delStAR en mitocondrias fue casi nula. La actividad de p.G22_L59delStAR fue del 65% ± 13 respecto del WT. La co-transfección de los plásmidos p.G22_L59delStAR y WT redujo la actividad de WT en 62.0 ± 13.9%. La mutación IVS1-2A>G provocó la pérdida de los aminoácidos 22 a 59 en la secuencia mitocondrial N-terminal. Postulamos que ello conduciría a un plegamiento anormal de la proteína que alteraría su procesamiento y translocación. La proteína mutante p.G22_L59delStAR podría interferir con la acción de la proteína StAR WT bloqueando el complejo transduceosoma y causando una forma dominante de deficiencia de StAR, que explicaría el fenotipo clínico en heterocigosis.

  19. Cementos con cenizas volantes

    Directory of Open Access Journals (Sweden)

    Ossa M., Mauricio

    1984-03-01

    additions of 20 and 30% .

    Casi la generalidad de los estudios realizados sobre cementos con adición de cenizas volantes se refieren a sus características y comportamiento en pastas, morteros y hormigones, siempre en relación con aquéllos del cemento portland. Esta vez, se desarrolló un trabajo experimental orientado a relacionar entre sí los cementos con adiciones de cenizas volantes y de puzolana natural. Para ello se fabricaron a escala de laboratorio cementos de ambos tipos, empleando como materias primas comunes clinker y yeso y, como variables, diferentes porcentajes de las dos adiciones, que cumplieron previamente los requisitos normalizados en cuanto a sus actividades puzolánicas. La calidad de los cementos fabricados resultó adecuada y concordante con la del cemento portland-puzolánico obtenido a escala industrial con los mismos clinker, yeso y puzolana natural de este estudio. Posteriormente, se determinaron las características de los cementos experimentales y se confeccionaron morteros normales para la realización de ensayos físicos y mecánicos. Los resultados de ensayos indicaron que los cementos con adición de cenizas volantes (CCV requieren menos agua para consistencia normal, presentan tiempos de fraguado mayores y expansiones en autoclave menores que los cementos con adición de puzolana (CP. Los calores de hidratación a 7 y 28 días de edad fueron aproximadamente similares para ambos tipos de cemento. En morteros normales, los cementos CCV mostraron menor retracción de secado, mayor retentividad y mayor fluidez (para igual cantidad de agua que los cementos CP. En los ensayos de exudación se observó que ésta depende más de la finura que el tipo de adición. Finalmente, los ensayos mecánicos señalaron que las resistencias a compresión y flexotracción de los morteros con cementos CCV son menores a edades inferiores que 14 días (del orden de 5 a 10% a un día de edad, pero que a partir de entonces pasan a ser mayores que las de

  20. competencia con China

    Directory of Open Access Journals (Sweden)

    Elena de la Paz Hernández Águila

    2007-01-01

    Full Text Available El artículo ofrece un diagnóstico del desempeño de la industria mexicana del calzado desde la década de los ochenta hasta la actualidad. Analiza la problemática que ha enfrentado esta rama industrial a partir del proceso de apertura comercial y de la competencia en su mercado interno con productos provenientes de países asiáticos, particularmente China. Problematiza al respecto los retos y las perspectivas que a mediano plazo enfrentará este sector empresarial y sobre las posibilidades de competir en el mercado globalizado.

  1. Construir con Madera

    OpenAIRE

    Olabe-Velasco, F. (Fermín); Val-Hernández, Y. (Yolanda); Varela-de-la-Cruz, P. (Perla); Cabrero-Ballarín, J.M. (José Manuel)

    2010-01-01

    Guía divulgativa ‘Construir con madera’, elaborada por la Cátedra Madera de la Universidad de Navarra y el Gobierno de Navarra. La publicación pretende explicar de forma sencilla los beneficios y posibilidades de este material en la construcción, tanto en lo que respecta a su resistencia, comportamiento frente al fuego, durabilidad, capacidad de aislamiento, propiedades acústicas, estética, respeto al medio ambiente y sostenibilidad como fuente de energía. A modo de ejemplo, en la ...

  2. Entrevista con Giovanni Levi

    Directory of Open Access Journals (Sweden)

    Monica Oliveira

    2017-06-01

    Full Text Available En esta entrevista, Giovanni Levi - como un conocedor del tema de Familia - realiza una importante evaluación sobre el actual estado de las investigaciones realizadas en el Brasil y em el exterior. Con estilo franco, agudo y lucido critica las visiones tradicionales y sus ilusiones ypropone nuevos conceptos y métodos. La historia de la familia debería ceder espacio para el estudio de las redes relacionales o de los mundos relacionales. De la misma forma, la historia cuantitativa debería abrir espacio para el estudio de las cualidades. Ya con relación a la historia de las elites, tan estudiada y reproducida en una diversidad de trabajos, que deberíase mirar en otra perspectiva. Es decir, no mirar a las reglas sociales predeterminadas, sino a los desvíos y a las variaciones. Levi defiende que los historiadores deben trascender a los documentos que se encuentran fácilmente y que pueden fortalecer perspectivas deformadas y esequilibradas de la sociedad. Para él, los historiadores deben esforzarse por estudiar a aquellos grupos que dejaron pocos rastros documentales. En ese esfuerzo existiría una nueva mirada sobre la historia de la familia.

  3. Entrevista con Patricia Ariza

    Directory of Open Access Journals (Sweden)

    Esperanza Londoño La Rotta

    2017-01-01

    Full Text Available Pensamiento, Palabra y Obra entrevista a una artista, feminista y activista política, quien como mujer y artista ha permitido pensar el arte más allá de un simple espectáculo. Toda una vida dedicada al teatro y a darle voz, a través de sus obras, a víctimas del conflicto colombiano, defensora de derechos humanos; además de hacer evidente en su vida y a través de la plataforma “Artistas por la paz”, las múltiples relaciones que se pueden establecer entre el arte, la construcción de paz y la resolución de conflictos. Hablamos en su casa, en medio del calor de la bienvenida con Patricia Ariza, directora del festival alternativo de teatro, de Mujeres en Escena y de la Corporación Colombiana de Teatro, entre otras muchas actividades que voluntariamente su espíritu libertario ha asumido. Esta entrevista se realizó antes del 2 de octubre, pero con la revisión de los acuerdos que propició el plebiscito ganado por una ínfima minoría por el no, sigue siendo vigente este planteamiento.

  4. Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.

    Science.gov (United States)

    Altès, Albert; Bach, Vanessa; Ruiz, Angels; Esteve, Anna; Felez, Jordi; Remacha, Angel F; Sardà, M Pilar; Baiget, Montserrat

    2009-10-01

    Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene. Nevertheless, penetrance of the disease is very variable. In some patients, penetrance can be mediated by concomitant mutations in other iron master genes. We evaluated the clinical impact of hepcidin (HAMP) and hemojuvelin mutations in a cohort of 100 Spanish patients homozygous for the C282Y mutation of the HFE gene. HAMP and hemojuvelin mutations were evaluated in all patients by bidirectional direct cycle sequencing. Phenotype-genotype interactions were evaluated. A heterozygous mutation of the HAMP gene (G71D) was found in only one out of 100 cases. Following, we performed a study of several members of that family, and we observed several members had a digenic inheritance of the C282Y mutation of the HFE gene and the G71D mutation of the HAMP gene. This mutation in the HAMP gene did not modify the phenotype of the individuals who were homozygous for the C282Y mutation. One other patient presented a new polymorphism in the hemojuvelin gene, without consequences in iron load or clinical course of the disease. In conclusion, HAMP and hemojuvelin mutations are rare among Spanish HH patients, and their impact in this population is not significant.

  5. Síndrome de carcinoma basocelular nevoide con agenesia de cuerpo calloso, mutación en PTCH1 y ausencia de carcinoma basocelular

    Directory of Open Access Journals (Sweden)

    Luis D Mazzuoccolo

    2014-08-01

    Full Text Available El síndrome del carcinoma basocelular nevoide (SCBCN o de Gorlin-Goltz es un raro desorden autosómico dominante con un amplio espectro de manifestaciones clínicas. El signo cardinal es la presencia de múltiples carcinomas basocelulares (CBCs y su ausencia demora el diagnóstico. Presentamos un adolescente de 14 años con diagnóstico de SCBCN por la presencia de queratoquistes odontogénicos, hiper­telorismo, macrocefalia y agenesia del cuerpo calloso pero sin lesiones cutáneas. La madre, de 43 años, tiene diagnóstico de SCBCN y no presenta CBCs. Para completar el estudio se realizó secuenciación bidireccional y Multiplex Ligation dependent Probe Amplification (MLPA en sangre periférica para buscar mutaciones en PTCH1, principal gen responsable del síndrome. Se encontró una mutación germinal novel en el paciente y la madre: una duplicación de 25 pb en el exón 10 (c.1375dupl25bp. El análisis bioinformático predijo un corrimiento del marco de lectura y un codón stop prematuro, que produciría una proteína trunca más corta que lo normal. Nuestros resultados sugieren que el estudio clínico y genealógico completo con análisis genético es fundamental para la detección temprana de casos como el presente.

  6. Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos

    Directory of Open Access Journals (Sweden)

    Alejandra Mampel

    2011-04-01

    Full Text Available La distrofia muscular de Duchenne/Becker (DMD/B es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70% de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el estudio de alteraciones numéricas en los 79 exones del gen DYS. El estudio fue realizado en 59 individuos pertenecientes a 31 familias no relacionadas. La metodología utilizada fue Multiplex Ligation Dependent Probe Amplification (MLPA. En los 31 casos independientes se estableció además el score clínico, se realizó el test de Raven y se determinaron los valores de creatininfosfoquinasa (CPK en sangre. Nuestros datos revelan una frecuencia de alteraciones numéricas en el gen DYS del 61.3%, provocando un corrimiento del marco de lectura en el 100% de los casos. Se observó una región con mayor tendencia a presentar alteraciones que involucran un solo exón. La tasa de mutación de novo identificada fue del 35.2%. Se halló, a su vez, una asociación significativa entre afectados con alteraciones numéricas y valores del test de Raven de bajo rendimiento. Estos resultados aportan datos a los conocimientos regionales sobre las alteraciones genéticas y su impacto fenotípico en la enfermedad de Duchenne/Becker.

  7. Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial.

    Science.gov (United States)

    Ong, Sim Y; Gurrin, Lyle C; Dolling, Lara; Dixon, Jeanette; Nicoll, Amanda J; Wolthuizen, Michelle; Wood, Erica M; Anderson, Gregory J; Ramm, Grant A; Allen, Katrina J; Olynyk, John K; Crawford, Darrell; Ramm, Louise E; Gow, Paul; Durrant, Simon; Powell, Lawrie W; Delatycki, Martin B

    2017-12-01

    The iron overload disorder hereditary haemochromatosis is most commonly caused by HFE p.Cys282Tyr homozygosity. In the absence of results from any randomised trials, current evidence is insufficient to determine whether individuals with hereditary haemochromatosis and moderately elevated serum ferritin, should undergo iron reduction treatment. This trial aimed to establish whether serum ferritin normalisation in this population improved symptoms and surrogate biomarkers. This study was a multicentre, participant-blinded, randomised controlled trial done at three centres in Australia. We enrolled people who were homozygous for HFE p.Cys282Tyr, aged between 18 and 70 years, with moderately elevated serum ferritin, defined as 300-1000 μg/L, and raised transferrin saturation. Participants were randomly assigned, via a computer-generated random number, to undergo either iron reduction by erythrocytapheresis (treatment group) or sham treatment by plasmapheresis (control group). Randomisation was stratified by baseline serum ferritin (cognitive subcomponent (-3·6, -5·9 to -1·3, p=0·0030), but not in the physical (-1·90 -4·5 to 0·63, p=0·14) and psychosocial (-0·54, -1·2 to 0·11, p=0·10) subcomponents. No serious adverse events occurred in either group. One participant in the control group had a vasovagal event and 17 participants (14 in the treatment group and three in the control group) had transient symptoms assessed as related to hypovolaemia. Mild citrate reactions were more common in the treatment group (32 events [25%] in 129 procedures) compared with the control group (one event [1%] in 93 procedures). To our knowledge, this study is the first to objectively assess the consequences of iron removal in individuals with hereditary haemochromatosis and moderately elevated serum ferritin. Our results suggest that serum ferritin normalisation by iron depletion could be of benefit for all individuals with hereditary haemochromatosis and elevated serum

  8. preescolares desnutridos con madres con obesidad y sin obesidad

    Directory of Open Access Journals (Sweden)

    Viridiana Vanessa Conzuelo-González

    2009-01-01

    Full Text Available El primer objetivo fue conocer cuántos menores de cinco años con diferentes grados de desnutrición tienen una madre con sobrepeso/obesidad/ en una comunidad indígena que vive en extrema pobreza y bajo condiciones de migración masculina internacional. El segundo fue comparar tres variables socionutricionales (ingreso familiar, educación de la madre y adecuación nutrimental de la dieta diaria entre estos hogares y los hogares con desnutrición infantil y madres sin obesidad. Se realizó un estudio transversal (2006-2007, en la comunidad mazahua de San Francisco Tepeolulco, Municipio de Temascalcingo; que incluyó a 85 hogares integrados por preescolares con desnutrición inscritos al programa Oportunidades. Se determinó el estado nutrición de los preescolares con indicadores antropométricos y se obtuvo el IMC de las madres de estos infantes. Se aplicó una encuesta socionutricional, incluida el recordatorio de 24 horas, y complementado con la observación participante (cualitativa. Se encontró que 83% de las madres mazahuas presentaron sobrepeso u obesidad. El estado de nutrición de los preescolares con madres con obesidad presentó un porcentaje mayor de desnutrición (76%. En la variable género, se encontró que 54% de los niños con madres con obesidad tenía baja talla. Al relacionar el nivel educativo de la madre, esta variable resultó ser estadísticamente significativa (p=0.015, donde el analfabetismo está más relacionado con la desnutrición infantil que tienen madres de bajo y/o peso normal. La elevada prevalencia de hogares conformados con preescolares con desnutrición y madres con obesidad, es un síntoma más de la pobreza en zonas indígenas en México, con bajo índice de desarrollo humano.

  9. Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

    Science.gov (United States)

    Yin, Wei-Li; Wang, Feng-Mei; Han, Tao

    2016-01-01

    Background Conflicting results have been obtained for the association between two common polymorphisms (C282Y, H63D) of human HFE (hereditary hemochromatosis) gene and the risks of the liver diseases, including non-alcoholic fatty liver disease (NAFLD), liver cirrhosis and hepatocellular carcinoma (HCC). Methods An updated systematic review and meta-analysis was conducted to evaluate the potential role of HFE polymorphisms in the susceptibility to NAFLD, liver cirrhosis and HCC. After retrieving articles from online databases, eligible studies were enrolled according to the selection criteria. Stata/SE 12.0 software was utilized to perform the statistical analysis. Results In total, 43 articles with 5,758 cases and 14,741 controls were selected. Compared with the control group, a significantly increased risk of NAFLD was observed for the C282Y polymorphism in the Caucasian population under all genetic models and for the H63D polymorphism under the allele, heterozygote and dominant models (all OR>1, PassociationHFE C282Y and H63D (all Passociation>0.05). In addition, we found that HFE C282Y was statistically associated with increased HCC susceptibility in the overall population, while H63D increased the odds of developing non-cirrhotic HCC in the African population (all OR>1, PassociationHFE C282Y and H63D polymorphisms confer increased genetic susceptibility to NAFLD and HCC but not liver cirrhosis. Additional well-powered studies are required to confirm our conclusion. PMID:27657935

  10. autorregulado con estudiantes universitarios

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    Jairo Andrés Montes

    2005-01-01

    Full Text Available El propósito del presente estudio es describir la forma en la que se presentan los procesos de aprendizaje autorregulado con un grupo de estudiantes (22 estudiantes de tercer semestre de Psicología de la PUJ, Cali, en el evento de preparación para la presentación un examen. Asimismo se describen las correlaciones que ocurren entre las distintas fases de dicho proceso de autorregulación del aprendizaje. Para conseguir los objetivos propuestos se ha hecho uso de una observación de desempeño en tiempo real, es decir, de la observación durante una sesión de preparación de examen de los estudiantes, en la cual se emplearon protocolos verbales para dar cuenta de lo que «pasaba por su mente» mientras estudiaban. Una entrevista semi-estructurada y una prueba objetiva. Los resultados fueron analizados a la luz del modelo mixto de procesamiento de información y constructivismo abordado por Winne(1998. Como resultado se encontró una relación significativa entre los niveles de desempeño en el proceso de ARR y el resultado del examen. Igualmente se encontraron bajos niveles de regulación en una parte importante de la muestra y un desfase significativo entre conocimiento declarativo de ARR y desempeño en el mismo

  11. Association Studies of HFE C282Y and H63D Variants with Oral Cancer Risk and Iron Homeostasis Among Whites and Blacks

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    Nathan R. Jones

    2015-12-01

    Full Text Available Background: Polymorphisms in the hemochromatosis (HFE gene are associated with excessive iron absorption from the diet, and pro-oxidant effects of iron accumulation are thought to be a risk factor for several types of cancer. Methods: The C282Y (rs1800562 and H63D (rs1799945 polymorphisms were genotyped in 301 oral cancer cases and 437 controls and analyzed in relation to oral cancer risk, and serum iron biomarker levels from a subset of 130 subjects. Results: Individuals with the C282Y allele had lower total iron binding capacity (TIBC (321.2 ± 37.2 µg/dL vs. 397.7 ± 89.0 µg/dL, p = 0.007 and higher percent transferrin saturation (22.0 ± 8.7 vs. 35.6 ± 22.9, p = 0.023 than wild type individuals. Iron and ferritin levels approached significantly higher levels for the C282Y allele (p = 0.0632 and p = 0.0588, respectively. Conclusions: Iron biomarker levels were elevated by the C282Y allele, but neither (rs1800562 nor (rs1799945 was associated with oral cancer risk in blacks and whites.

  12. Puentes con vigas pretensadas

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    Editorial, Equipo

    1965-07-01

    Full Text Available This paper describes one of the three bridges which Hidrocivil, S. A., has built in Catalonia (northern Spain, over the river Ripoll. The other two bridges are very similar to this one, both in construction and design, and show only minor adjustments to the local topography. The contracting firm proposed several alterations in the prefabrication and constructional procedure, in relation to the initial project, and these changes were accepted. The main feature of these projects is the use of prestressed beams, built at the workshop in sections, and joined together by means of sixty 7 mm cables in each beam. As the shear forces are more acute at the joints, the end of each section has a kind of diaphragm, to provide a large contact area, and hence greater surface to transmit the shear forces. The methods of construction are also of interest. Briefly, they involve building the bridge piles, and use these to support a provisional structure with transversal movement. This provisional structure, in turn, served as platform for two bridge cranes, which lifted the girders to their final location. After the first span was completed, the deck was concreted and the auxiliary structure pushed forward to the next span, to repeat the same operations. This arrangement saved the use of provisional framework.En este trabajo se describe uno de los tres puentes que Hidrocivil, S. A., ha construido.—previo concurso— en la región catalana; concretamente, el que salva el río Ripoll. Los otros dos no han sido objeto de descripción general por ser muy similares, en lo que a ejecución y concepción se refiere, con la única variante que presentan las características topográficas locales. La empresa propuso ciertas variantes— que fueron aceptadas— en la prefabricación y métodos de construcción. El interés de estas obras se centra en el empleo de vigas pretensadas, prefabricadas en taller por trozos, y solidarizados en el mismo mediante las operaciones

  13. Violencia con el anciano

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    Rita Campillo Motilva

    2002-08-01

    Full Text Available La violencia doméstica es tan antigua como la humanidad misma y se reconocen la violencia infantil, contra la mujer y al anciano, fundamentalmente; siendo este último grupo una población en ascenso por las mayores expectativas de vida de los últimos años. Como resultado de ello, el número de casos de abuso en el anciano se incrementará y el impacto de este abuso sobre la salud debe ser considerado de forma adecuada. La gama de maltratos es variadísima e incluye el abuso físico, emocional, financiero, sexual, por negligencia, negación a brindarle ayuda y otras formas más. Los ancianos con deterioro cognitivo son los más vulnerables. El médico en la atención primaria de salud es un pilar importante en la prevención y educación de este problema.Domestic violence is as old as humanity itself. Child, women and elderly abuse are mainly recognized. The elderly group is increasing due to the higher life expectancy experimented during the last years. As a result, the number of battered elderly will grow and the impact of this abuse on health should be adequately considered. The range of abuse is very wide and it includes physical, emotional, financial and sexual abuse, negligence, rejection to give assistance and others. The elderly with cognitive deterioration are the most vulnerable. The physician at the primary health care level is an important milestone in the prevention and education of this problem.

  14. Variations in CCR5, but not HFE, ELMO1, or SLC12A3, are associated with susceptibility to kidney disease in north Indian individuals with type 2 diabetes.

    Science.gov (United States)

    Yadav, Ashok K; Kumar, Vinod; Dutta, Pinaki; Bhansali, Anil; Jha, Vivekanand

    2014-11-01

    Diabetic nephropathy (DN), the leading cause of end-stage renal disease worldwide, may have a genetic component. In the present study, we investigated variations in a set of genes with susceptibility to DN in a north Indian population. Four genes (HFE, ELMO1, SLC12A3, and CCR5) were selected on the basis of reported association with type 2 diabetes and nephropathy. In all, 417 diabetic subjects (215 without kidney disease [DM] and 202 with DN) and 197 healthy controls (HC) were evaluated for variations in HFE (845 G>A and 187G>C), SLC12A3 (g.34372G>A), CCR5 (59029A>G), and ELMO1 (+9170 G>A). Polymorphism analysis was performed by polymerase chain reaction-restriction fragment length polymorphism and Taqman allele discrimination assays. Significant differences were found in genotype and allelic frequency in SLC12A3 (g.34372G>A) between diabetic subjects and HC (P A (AA+GA) genotype between diabetic subjects with and without nephropathy. However, the CCR5 59029AA genotype and A allele were significantly more frequent in diabetics compared with the HC (P = 0.01 and 0.03, respectively) and subjects with DN versus DM (P = 0.002 and 0.01, respectively). For ELMO1 (+9170 G>A), the GG genotype frequency was higher in the diabetic versus HC group. There were no differences in the frequency of HFE-845 G>A and HFE-187G>C among the groups. This study shows that the CCR5 AA genotype is over-represented in subjects with kidney disease due to type 2 diabetes. The CCR5 59029G>A and ELMO1 (+9170 G>A) loci are more frequent, and the SLC12A3 34372 AA genotype is associated with a reduced risk of diabetes. © 2014 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and Wiley Publishing Asia Pty Ltd.

  15. Acne polimorfo: tratamiento con Implacen

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    Rubén Pérez Armas

    1995-06-01

    Full Text Available Se realiza el estudio de 40 pacientes con acné polimorfo, los que fueron atendidos en la Consulta de Dermatología del Hospital Provincial Clinicoquirúrgico Docente "Celia Sánchez Manduley", en el período comprendido de enero de 1988 a diciembre de 1989. Se revisa la literatura médica sobre los diversos métodos y medicamentos utilizados en la terapéutica de esta dermatosis. Se describe el esquema de tratamiento empleado con implacén en 30 pacientes; los 10 restantes se trataron con placebo; se compara dicho esquema con los tradicionales y se observan mejores resultados con nuestro estudio. Se destaca la ausencia de recaídas, así como el resultado del tratamiento de acuerdo con el sexo.A study was performed in 40 patients presenting with polymorphic acne who were attended in the Dermatology Department of "Celia Sánchez Manduley" Clinicosurgical and Teaching Hospital from January, 1988 to December, 1989. A review of the literature was made seeking for the different methods and drugs used for the treatment of this dermatosis. The treatment schedule with the use of implacen in 30 patients is described. Such therapeutic schedule was compared with traditional ones and better results were observed with the use of implacen. The fact that there were no relapses is highlighted, as well as the result of treatment according to sex.

  16. Evaluación en el agua para consumo humano de subproductos de cloración y su relación como inductores de mutagénesis (mutaciones celulares

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    Virginia Montero-Campos

    2014-03-01

    Full Text Available En el proceso de cloración del agua se produce una serie de reacciones químicas entre el cloro utilizado en la desinfección y la materia orgánica presente en el agua. La naturaleza y la concentración de los com­puestos formados son dependientes de variables físicoquímicas de la materia orgánica del suelo, las cuales reaccionan con el cloro agregado originán­dose productos que son compuestos de diferente toxicidad, entre ellos los mutagénicos y carcinogéni­cos; a todos ellos en conjunto se les conoce como productos secundarios de cloración (SPD, por sus siglas en inglés, en los que se incluyen los compues­tos llamados trihalometanos (THM. Se investigó la presencia de este tipo de subproductos en aguas costarricenses por medio de la técnica de microex­tracción en fase sólida (HEADSPACE / SPME Solid Phase Microextraction / GS-MS, utilizando un Cromatógrafo de Gases Varian 450 acoplado a un Espectrómetro de Masas. Se analizaron en total 39 muestras, provenientes de fuentes de agua subterránea (nacientes admi­nistradas por la Municipalidad del Cantón Central de Cartago y agua de origen superficial (plantas de tratamiento completo dispensada por los sistemas de tratamiento del AyA/Cantón Central de Cartago y los Sistemas de Tratamiento del AyA de Moravia, Guadalupe y Pavas, con un total de 156 subproduc­tos determinados y cuantificados, correspondiendo estos a cloroformo, bromodiclorometano, dibromo­clorometano y tribromoclorometano. En las muestras de agua de los sistemas de tratamien­to completo se encontró que de 80 subproductos analizados, 12 superaron el máximo permitido de acuerdo con el Reglamento Nacional de Calidad de Agua para consumo humano, mientras que de los acueductos abastecidos por medio de aguas subterráneas administrados por la Municipalidad de Cartago, de 76 subproductos analizados solo uno superó el valor máximo permitido.

  17. Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in European populations: a meta-analysis

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    Shen Xi-Zhong

    2010-03-01

    Full Text Available Abstract Background Hereditary hemochromatosis (HH is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in the hemochromatosis (HFE gene. The reports about the C282Y and H63D mutations and hepatocellular carninoma (HCC were controversial. To clarify the relationship between C282Y and H63D mutations and HCC, a meta-analysis including nine studies (1102 HCC cases and 3766 controls, mainly came from European populations was performed. Methods The association was measured using random-effect (RE or fixed-effect (FE odds ratios (ORs combined with 95% confidence intervals (CIs according to the studies' heterogeneity. Results Meta-analysis of nine studies showed that Y allele of C282Y was associated with HCC risk: RE OR reached 1.50 (95%CI: 1.05-2.14, p for heterogeneity = 0.02, I2 = 0.57. Subgroup analysis of seven studies also showed Y allele was associated with HCC risk in healthy populations: RE OR reached 1.61 (95%CI: 1.08-2.39, p for heterogeneity = 0.04, I2 = 0.55. We further did subgroup analysis in alcoholic liver cirrhosis (LC patients of four studies (224 cases and 380 controls and found that both the dominant model and Y allele of C282Y were associated with HCC risk (FE OR reached 4.06, 95%CI: 2.08-7.92 and 3.41, 95%CI: 1.81-6.41, respectively. There was no distinct heterogeneity among the studies (I2 = 0. Sensitivity analyses showed the results were robust in the subgroup analysis of alcoholic LC patients. Conclusions C282Y mutation was associated with HCC in European alcoholic LC patients.

  18. con mala calidad de vida

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    Agustín Martín-Rodríguez

    2007-01-01

    Full Text Available En este estudio ex post facto se ha analizado si los familiares de pacientes con mala calidad de vida presentan diferencias en las variables clínicas de personalidad y relaciones familiares en función de que el paciente haya estado o no ingresado en una Unidad de Cuidados Intensivos. Seleccionamos dos grupos: 29 familiares de pacientes traumatizados graves transcurridos cuatro años de su ingreso en una UCI de Traumatología y con mala calidad de vida (debido a secuelas físicas y/o psicológicas tras el ingreso, tales como traumatismos craneoencefálicos, politraumatismos y tetraplejias traumáticas y 32 familiares de pacientes con mala calidad de vida con cuatro años de evolución de su enfermedad física (hipertensión, diabetes, artritis reumatoide y síndrome de intestino irritable que no han estado ingresados en la UCI. Para alcanzar nuestro objetivo empleamos una Encuesta Psicosocial y los siguientes instrumentos: Cuestionario de Análisis Clínico, Escala de Clima Social en la Familia y Escala de Adaptación Psicosocial de la Enfermedad. Los resultados mostraron que los familiares de pacientes con mala calidad de vida que estuvieron ingresados en la UCI hace cuatro años, presentan diferencias significativas en las variables agitación y expresividad comparados con los familiares de pacientes con mala calidad de vida que no han estado ingresados en la UCI.

  19. Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis Prevalência das mutações C282Y e H63D no gene HFE em indivíduos brasileiros com suspeita clínica de hemocromatose hereditária

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    Alessandro C. S. Ferreira

    2008-10-01

    Full Text Available Classical hereditary hemochromatosis is a recessive autosomal disease related to a systemic iron overload that is frequently related to C282Y and H63D mutations in the HFE gene. In Brazil, reports on HFE gene mutation frequencies are rare, mainly in regards to a representative sample population. This study intended to determine the prevalence of C282Y and H63D mutations among individuals with clinical suspicion of hereditary hemochromatosis. A total of 1955 patients were studied with C282Y and H63D mutations being detected by the polymerase chain reaction technique followed by enzymatic restriction. The sample consisted of 76.6% men and 23.4% women. The highest percentage of analyzed individuals (56.9% was concentrated in the 41 to 60-year-old age group. Although there were no genic or genotypic differences between genders, a higher number of over 60-year-old women was observed. The C282Y mutation was found as homozygous in 2.9% of the cases and as heterozygous in 10.1%, while the H63D was homozygous in 4.3% and heterozygous in 30.6%. The C282Y and H63D mutant allele frequencies were 0.079 and 0.196, respectively. The highest frequency was observed for H63D which was in genetic equilibrium. This work is important to determine the genetic profile of the population with hereditary hemochromatosis in Brazi.A hemocromatose hereditária clássica (HH é uma doença autossômica recessiva caracterizada por uma sobrecarga sistêmica de ferro, a qual está freqüentemente relacionada às mutações C282Y e H63D no gene HFE. No Brasil, registros das freqüências das mutações no gene HFE são raros, principalmente envolvendo uma amostra representativa da população. Este estudo teve como objetivo a determinação da prevalência das mutações C282Y e H63D em indivíduos com suspeita clínica de HH. Para isto, foram estudados 1955 pacientes para os quais as mutações C282Y e H63D foram pesquisadas pela técnica de Reação em Cadeia da Polimerase

  20. Tratamiento con implantes Leader-Nano en paciente con oligodoncia

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    Salvador Javier Santos Medina

    2015-03-01

    Full Text Available Los implantes dentales de titanio han revolucionado el mundo de la rehabilitación desde su surgimiento. De manera particular, el empleo de implantes de carga inmediata acorta el tiempo quirúrgico y protésico, con el consiguiente bienestar estético. Se presenta el caso de una paciente femenina de 32 años de edad, con antecedentes de oligodoncia de ambos incisivos laterales superiores y portadora de prótesis parcial acrílica. Fue atendida por el equipo multidisciplinario de implantes en la Clínica Estomatológica Docente “3 de Octubre” y se le realizó tratamiento de rehabilitación integral con implantes Leader-Nano y prótesis fija con corona acrílica sobre dichos implantes. La implantología fue satisfactoria en la paciente; la mejoría estética y funcional, así como la satisfacción de la paciente, fueron los principales logros obtenidos

  1. Surface Tension and p−ρ−T Data for 1,1,1,3,3-Pentafluorobutane (HFC-365mfc) and 1,1,1,2,2,3,3-Heptafluoro-3-methoxy-propane (HFE-347mcc)

    Czech Academy of Sciences Publication Activity Database

    Klomfar, Jaroslav; Součková, Monika; Pátek, Jaroslav

    2013-01-01

    Roč. 58, č. 8 (2013), s. 2316-2325 ISSN 0021-9568 R&D Projects: GA ČR GA101/09/0010 Institutional support: RVO:61388998 Keywords : surface tension * density * HFC-365mfc * HFE-347mcc Subject RIV: BJ - Thermodynamics Impact factor: 2.045, year: 2013

  2. Dosis óptima de irradiación gamma con Co60 para inducción de mutagénesis en pastos

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    Alan Álvarez-Holguín

    2017-01-01

    Full Text Available La dosis letal (DL 50 y reducción media del crecimiento (RC 50 son parámetros utilizados para seleccionar dosis de irradiación adecuadas e inducir mutaciones para realizar mejoramiento genético vegetal. El objetivo fue determinar la DL 50 y RC 50 para conocer la dosis ó p tima de irradiación c on Co 60 en semilla de pasto llorón, buffel, banderita y navajita. Se evaluaron seis dosis de irradiación con Co 60 en semilla : 100, 200, 300, 450, 600 y 900 Gray (Gy y un tratamiento control (T - 0, sin irradiación. Las variables evaluadas fueron : porcentaj e de germinación (%GE, índice de velocidad de germinación (IVG, longitud de plúmula (LP y longitud de radícula (LR. Se realizó análisis de regresión y comparación de medias con la prueba de Dunnett. Mediante la ecuación de regresión se estimó la DL 50 p ara el %GE, así como RC 50 para el resto de las variables. La DL 50 se ponderó con 55%, mientras que la RC 50 se ponderó en 15% para cada una de las tres variables restantes. En general, los valores de las variables disminuyeron (P<0.05 conforme se incremen tó la dosis de irradiación, lo cual permitió determinar la DL 50 y RC 50 para cada especie. La media ponderada se obtuvo a los 628 Gy, 712 Gy, 698 Gy y 411 Gy para pasto llorón, buffel, banderita y navajita, respectivamente. Se recomiendan las dosis plantead as en este estudio, ya que esto permitirá plantear las bases para realizar mejoramiento genético a través de mutagénesis con irradiación gamma en los pastos evaluados.

  3. con dietas suplementadas con Cromo-L-metionina

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    Ram\\u00F3n Garc\\u00EDa-Castillo

    2006-01-01

    Full Text Available Un total de 48 cerdos (Sus scrofa domesticus; 24 machos castrados y 24 hembras cruzados (Yorkshire, Hampshire, Duroc y Landrace de 3,5 a 4,0 meses de edad y 60,0 ± 5,0 kg PV en finalización. Se alimentaron con dietas isoproteícas (14,5 % PC e isoenergéticas (3.400 kcal EM/kg de MS, adicionadas con Cr-L-metionina (MiCroPlex® (0, 200, 400 y 600 ppb. El experimento tuvo una duración de 45 días y se realizó de agosto a noviembre del 2002 en las instalaciones de la Universidad Autónoma Agraria Antonio Narro, localizada en Saltillo, Coahuila, México. Al tener los animales aproximadamente 95 kg PV, se tomó muestra de 15 ml de sangre por cada animal para determinar la concentración de glucosa, ácido úrico, creatinina, urea, proteinas totales y colesterol. Se aplicó un diseño completamente al azar con arreglo factorial 2 x 4; dos para el factor sexo y cuatro para nivel de cromo. Los metabolitos en suero no fueron afectados (P>0,05 por el factor sexo. La glucosa en suero disminuyó (P<0,05 y el colesterol incrementó (P<0,05 con cromo en la dieta. Se concluye que el Cr incrementa el metabolismo de glucosa y disminuye el de colesterol, con lo cual puede haber energía disponible para síntesis de proteína la cual es necesaria para el crecimiento de los animales

  4. Recubrimiento de acero con polidopamina

    OpenAIRE

    Carrasco Rodríguez, Javier

    2013-01-01

    Se ha obtenido recubrimientos de polidopamina en acero mecánicamente resistentes y con tiempos de obtención relativamente pequeños a través de la polimerización de la dopamina bajo diferentes condiciones.

  5. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis.

    Science.gov (United States)

    Phatak, Pradyumna; Brissot, Pierre; Wurster, Mark; Adams, Paul C; Bonkovsky, Herbert L; Gross, John; Malfertheiner, Peter; McLaren, Gordon D; Niederau, Claus; Piperno, Alberto; Powell, Lawrie W; Russo, Mark W; Stoelzel, Ulrich; Stremmel, Wolfgang; Griffel, Louis; Lynch, Nicola; Zhang, Yiyun; Pietrangelo, Antonello

    2010-11-01

    Hereditary hemochromatosis (HH) is characterized by increased intestinal iron absorption that may result in iron overload. Although phlebotomy is widely practiced, it is poorly tolerated or contraindicated in patients with anemias, severe heart disease, or poor venous access, and compliance can vary. The once-daily, oral iron chelator, deferasirox (Exjade) may provide an alternative treatment option. Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL, transferrin saturation ≥ 45%, and no known history of cirrhosis were enrolled in this dose-escalation study to characterize the safety and efficacy of deferasirox, comprising a core and an extension phase (each 24 weeks). Forty-nine patients were enrolled and received starting deferasirox doses of 5 (n = 11), 10 (n = 15), or 15 (n = 23) mg/kg/day. Adverse events were generally dose-dependent, the most common being diarrhea, headache, and nausea (n = 18, n = 10, and n = 8 in the core and n = 1, n = 1, and n = 0 in the extension, respectively). More patients in the 15 mg/kg/day than in the 5 or 10 mg/kg/day cohorts experienced increases in alanine aminotransferase and serum creatinine levels during the 48-week treatment period; six patients had alanine aminotransferase > 3 × baseline and greater than the upper limit of normal range, and eight patients had serum creatinine > 33% above baseline and greater than upper limit of normal on two consecutive occasions. After receiving deferasirox for 48 weeks, median serum ferritin levels decreased by 63.5%, 74.8%, and 74.1% in the 5, 10, and 15 mg/kg/day cohorts, respectively. In all cohorts, median serum ferritin decreased to < 250 ng/mL. Deferasirox doses of 5, 10, and 15 mg/kg/day can reduce iron burden in patients with HH. Based on the safety and efficacy results, starting deferasirox at 10 mg/kg/day appears to be most appropriate for further study in this patient population.

  6. Análisis genético en APC, KRAS y TP53 en pacientes con cáncer de estómago y colon

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    K.A. Palacio-Rúa

    2014-04-01

    Conclusión: Las mutaciones en los genes APC, KRAS y TP53 fueron más comunes en el CCR que en el CE; nuestros resultados indican la existencia de diferentes vías genéticas en la carcinogénesis del CE y del CCR, y revelan una frecuencia de mutaciones particular en los pacientes colombianos estudiados, que podría estar influida por factores ambientales y étnicos, y el estilo de vida de esta población.

  7. Santiago, una ciudad con temor

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    Enrique Oviedo S.

    1999-04-01

    Full Text Available El objetivo general de este artículo es evaluar los efectos de la inseguridad ciudadana en el uso del espacio público. Dicha evaluación exige analizar dos relaciones que se establecen en el ámbito de la violencia: la relación entre victimización y percepción de inseguridad; y la que se establece entre actitudes sociales y resolución pacífica de conflictos nacionales. Para ello, se analizaron las variables victimización, percepción de inseguridad, uso del espacio físico, actitudes hacia el sistema institucional político y social y hacia la resolución de conflictos nacionales, y las posibles relaciones entre ellas. Los datos para realizar el estudio se obtuvieron por medio de una encuesta que se llevó a cabo con 1 200 personas de 18 y 70 años de edad residentes en la ciudad de Santiago. Los resultados indican que Santiago es una ciudad de habitantes con temor y que el aumento de la percepción de inseguridad de sus habitantes contrasta con el hecho de que las tasas de victimización se hayan mantenido, más o menos, constantes en los años que precedieron a la encuesta. El temor se relaciona con el abandono del espacio público físico y sociopolítico, así como con el refugio en los espacios y la vida privados. La actitud de resolver los conflictos por medios no pacíficos es frecuente y se asocia en mayor medida con la inseguridad, la actitud negativa hacia la democracia y la falta de expectativas sobre el futuro del país. Los resultados de este estudio respaldan la idea de que para superar el temor la gente tiende a adaptarse a la realidad adoptando una postura conformista, homogeneizando las creencias y los comportamientos, y sobreestimando la fuerza como medio para resolver las diferencias.

  8. Santiago, una ciudad con temor

    Directory of Open Access Journals (Sweden)

    Oviedo S. Enrique

    1999-01-01

    Full Text Available El objetivo general de este artículo es evaluar los efectos de la inseguridad ciudadana en el uso del espacio público. Dicha evaluación exige analizar dos relaciones que se establecen en el ámbito de la violencia: la relación entre victimización y percepción de inseguridad; y la que se establece entre actitudes sociales y resolución pacífica de conflictos nacionales. Para ello, se analizaron las variables victimización, percepción de inseguridad, uso del espacio físico, actitudes hacia el sistema institucional político y social y hacia la resolución de conflictos nacionales, y las posibles relaciones entre ellas. Los datos para realizar el estudio se obtuvieron por medio de una encuesta que se llevó a cabo con 1 200 personas de 18 y 70 años de edad residentes en la ciudad de Santiago. Los resultados indican que Santiago es una ciudad de habitantes con temor y que el aumento de la percepción de inseguridad de sus habitantes contrasta con el hecho de que las tasas de victimización se hayan mantenido, más o menos, constantes en los años que precedieron a la encuesta. El temor se relaciona con el abandono del espacio público físico y sociopolítico, así como con el refugio en los espacios y la vida privados. La actitud de resolver los conflictos por medios no pacíficos es frecuente y se asocia en mayor medida con la inseguridad, la actitud negativa hacia la democracia y la falta de expectativas sobre el futuro del país. Los resultados de este estudio respaldan la idea de que para superar el temor la gente tiende a adaptarse a la realidad adoptando una postura conformista, homogeneizando las creencias y los comportamientos, y sobreestimando la fuerza como medio para resolver las diferencias.

  9. Continuity vs. mutation in the Napoleonic State under the Bourbons’ Restoration, 1814-1830 | Permanencia y mutaciones del Estado napoleónico bajo la Restauración de los Borbones, 1814-1830

    Directory of Open Access Journals (Sweden)

    Francis Démier

    2014-12-01

    Full Text Available The return of the Bourbons in 1814, despite the accompanying aggressive program of the extreme right-wing, intended to break the centralized state apparatus, considered to be the very source of "revolutionary danger”, by no means involved a reduction inthe power on an administration that has been poorly purged. Ultra-realism quickly showed itself unable to stabilize the economy and the society by means of a historic compromise that was nonetheless quickly organized by a technocracy composed of an combination of the old pre-1789 France offices and those of the revolutionary and imperial times. Under the lessons of Turgot and Colbert, the State became guardian and supervisor of a type of economic and social liberalism that provided French industrialization with new vigour. It also fostered and the creation of a protected national market. This modernising identity of the State managed to evolve. It overcame the right-oriented turn of politics promoted by Villèle. In order to meet the challenges of the French modernization process from 1828, the State decided to mirror the "English methods”, thus making the rigidity of the Napoleonic administration evolve. | El regreso de los Borbones en 1814, a pesar del agresivo programa de extrema derecha que trajo consigo, según el cual pretendía acabar con el aparato del Estado centralizado por considerarlo la fuente misma del “peligro revolucionario”, no mermó en ningún caso el poder de una administración que había sido muy poco depurada. El realismo ultra rápidamente demostró su incapacidad para estabilizar la economía y la sociedad mediante un compromiso histórico que, sin embargo, fue rápidamente organizado por una tecnocracia compuesta por una fusión de los despachos de la Francia anterior a 1789 y los del episodio revolucionario e imperial. Entre lecciones de Turgot y de Corbert, el Estado se hizo el guardián y el tutor de un liberalismo económico y social que dotó de un nuevo

  10. pacientes con insuficiencia renal terminal

    Directory of Open Access Journals (Sweden)

    Karen Herrera Herrera

    2011-01-01

    Full Text Available La presente investigación fundamenta en la clínica psicoanalítica el estudio de dos casos de tres personas diagnosticadas con IRT que reciben tratamiento de hemodiálisis, en razón a que dadas las características y el aumento de los reportes que se presentan, ya esto se considera un problema de salud pública. El objetivo principal es describir las características dinámicas del proceso de duelo en pacientes con IRT en un centro de terapia renal de la ciudad de Cartagena. El procedimiento metodológico empleó un diseño de tipo cualitativo; la investigación se desarrolló con un diseño clínico mediante el estudio de casos, y fundamentada en la hermenéutica psicoanalítica. Todo esto respaldado en la historia clínica, la entrevista semiestructurada individual y familiar, los test proyectivos, test del dibujo de la figura humana Machover y TAT de Murray, para la debida integración de los análisis. Se concluye que predominan funciones fallidas de los progenitores y que son individuos provenientes de familias psicosomáticas, que utilizan la enfermedad para obtener un beneficio secundario.

  11. con bajo peso al nacer

    Directory of Open Access Journals (Sweden)

    Adriana Mora Antó

    2005-01-01

    Full Text Available Esta investigación dio cuenta de la relación entre el estilo de funcionamiento familiar, los patrones de crianza y las edades de desarrollo evolutivo en niños, nacidos con bajo peso. El estudio descriptivo correlacional se realizó con 41 niños y sus madres, aplicándose cuestionarios sobre funcionamiento familiar, prácticas de crianza y desarrollo infantil. Los resultados señalaron la existencia de un funcionamiento familiar caracterizado por una cohesión amalgamada y una adaptabilidad caótica, una disciplina complaciente, falta de control y de límites claros en la díada madre-hijo. Se trataba de familias monoparentales, donde la temprana edad de concepción, el madresolterismo y el apoyo de la familia extensa eran constantes. Las edades evolutivas registradas indicaron un desarrollo inferior a la edad cronológica, en la mayor parte de los casos; sin embargo, éstas tendieron a ser superiores al compararlas con la edades reales de los infantes. No se encontró una correlación estadísticamente significativa entre la edad de desarrollo y los diferentes factores del funcionamiento familiar para algunos de los rangos de edad considerados; sin embargo, no se lo descartó por completo, especialmente en lo referente al optimismo familiar

  12. Conversando con...Momoyo Kaijima

    OpenAIRE

    Gómez Alonso, Carlos; Álvarez Isidro, Eva; Torres Barchino, Ana

    2017-01-01

    [ES] Momoyo Kaijima es profesora en la Facultad de Arte y Diseño de la Universidad de Tsukuba en la Prefectura de Ibaraki y profesora visitante en la ETH de Zürich, en Royal Academy of Fine Arts, en Rice School of Architecture y en Harvard GSD. A lo largo de los años, Atelier Bow Wow ha colaborado con Krešimir Rogina, arquitecto de Zagreb y socio de la firma internacional Penezic&Rogina, en la realización del Grožnjan International Summer School of Architecture, siendo Rogina el nexo indispen...

  13. Food irradiation - pros and cons

    International Nuclear Information System (INIS)

    1983-01-01

    The use of ionising radiation for food preservation is a much-disputed topic, both among experts and among consumers. Pros and cons of this issue were discussed in detail at the consumers' forum. Professor Dr. Johannes Friedrich Diehl, Director of the Institute for Biochemistry of the Food Research Centre, Karlsruhe, is a well-known supporter of the new method of food preservation; he sees advantages in the radiopreservation of food because, for example, losses due to inedibility are reduced, the danger of salmonellosis is decreased, just as the use of chemicals. He thinks this method to be without danger to health, shown by many years of experience. Opponents to food irradiation like Prof. Dr. Konrad Pfeilsticker, Professor for food science and food chemistry at the Bonn University deem the method to be unnecessary and raise the problem of qualitative changes caused in the food. In the course of the discussions, the pros and cons seemed to balance each other out. (orig./AJ) [de

  14. De paseo con los Bourbaki

    Directory of Open Access Journals (Sweden)

    Miquel Escudero

    2012-04-01

    Full Text Available Setenta y siete años después de la fundación del grupo Bourbaki, procedemos a una reflexión que puede ser útil para los estudiantes que acaso no sepan de su existencia, ni tan siquiera los de matemáticas. Sería interesante conocer que a este grupo se le debe el signo del vacío como conjunto. Con todo lo discutible que sea el método Bourbaki en su reinterpretación de la matemática, no cabe duda de su importante repercusión hasta el punto de que ha marcado una época. Hay un antes y un después tras su irrupción, ningún matemático de primera fila de la segunda mitad del siglo XX fue ajeno a su influjo, para encabezarlo o para reprobarlo. Comenzaron como una juvenil extravagancia, pero repleta de conocimientos y con decidida voluntad de aprehender el rigor de forma exhaustiva.

  15. Tratamiento del paciente con artrosis

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    Francisco Vargas Negrín

    2014-01-01

    Full Text Available El manejo terapéutico del paciente con artrosis tiene como objetivo disminuir la sintomatología dolorosa e inflamatoria, mejorar la capacidad funcional del paciente y la aplicación de intervenciones terapéuticas eficaces y lo más seguras posibles. Un enfoque centrado en el paciente implica su participación activa en el diseño del plan terapéutico y en la toma de decisiones informadas oportunas en todas las etapas de la enfermedad. La educación terapéutica, la actividad física y el ejercicio terapéutico junto con el control de peso, en caso de sobrepeso u obesidad, constituyen el núcleo central del tratamiento. Los autocuidados individuales y por los familiares son fundamentales en el control del día a día del paciente. El uso de terapias físicas, ayudas técnicas (bastón, etc. y de fármacos tipo analgésicos simples, opioides y antiinflamatorios tiene evidencias demostradas en el control del dolor, mejora la funcionalidad y la calidad de vida del paciente y una clara recomendación de uso en el tratamiento de la artrosis. La cirugía conservadora y la de reemplazo articular se indican en los casos en los que no se logran los objetivos terapéuticos en casos concretos.

  16. Cons ICARUS, TIGER and Fascism

    Directory of Open Access Journals (Sweden)

    Janez Vrečko

    2010-12-01

    Full Text Available Like the scientists of their time, Russian artists in the 1920s considered gravity the central problem – a view which points to the close harmony between modern physics and the avant-garde. It was only with the constructivist movement that the Icarus revolution grasped the principles of the “mobile philosophy” (3.651 which was almost at the same time recognised by modern physics as well. The static view of the world became obsolete, space and time were no longer absolute values. It was necessary to transcend Euclidean geometry, shake off the political ʻshackles on one’s hands’ and surrender to Lisicki’s imaginary space, where “At 2000 metres in the air / there is no more perspective” (Integrals 276.  Kosovel’s Icarus project accorded with Tatlin’s, and both of them accorded with the quintessential aims of the constructivist movement. It is no accident that Kosovel wished to name one of his poetry collections The Dream of Icarus. Poems on the Icarus theme, such as “Cons Icarus”, “Evacuation of the Spirit”, “Eh, Hey”, “A Heart in Alcohol” etc. belong to the group of Kosovel’s conses which follow his “mobile philosophy” (3.650 and “letters growing into space” (Int. 282.  The question “Man, do you want up in the air?” (Int. 128 will remain a question until the moment when man is finally ready to transcend the existing boundary and dive “beyond”. Hence Kosovel’s clear-cut contrast between the “green windows of an illuminated / express on a viaduct”, which moves horizontally and is, like a water current, subject to the earth’s gravity, and “the spirit in space”, whose direction of motion is “the perpendicular of the spirit”, atectonicity. “The spirit burns in space”: fire is an element that knows vertical movement alone, the only one of the elements to outgrow and transcend the earth’s gravity, therefore it is associated with another mythological figure important for

  17. Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls.

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    Qing Ye

    Full Text Available Conflicting results have been obtained for the association between two common polymorphisms (C282Y, H63D of human HFE (hereditary hemochromatosis gene and the risks of the liver diseases, including non-alcoholic fatty liver disease (NAFLD, liver cirrhosis and hepatocellular carcinoma (HCC.An updated systematic review and meta-analysis was conducted to evaluate the potential role of HFE polymorphisms in the susceptibility to NAFLD, liver cirrhosis and HCC. After retrieving articles from online databases, eligible studies were enrolled according to the selection criteria. Stata/SE 12.0 software was utilized to perform the statistical analysis.In total, 43 articles with 5,758 cases and 14,741 controls were selected. Compared with the control group, a significantly increased risk of NAFLD was observed for the C282Y polymorphism in the Caucasian population under all genetic models and for the H63D polymorphism under the allele, heterozygote and dominant models (all OR>1, Passociation0.05. In addition, we found that HFE C282Y was statistically associated with increased HCC susceptibility in the overall population, while H63D increased the odds of developing non-cirrhotic HCC in the African population (all OR>1, Passociation<0.05. Moreover, a positive association between compound heterozygosity for C282Y/H63D and the risk of NAFLD and HCC, but not liver cirrhosis, was observed.Our meta-analysis provides evidence that the HFE C282Y and H63D polymorphisms confer increased genetic susceptibility to NAFLD and HCC but not liver cirrhosis. Additional well-powered studies are required to confirm our conclusion.

  18. Fare astronomia con piccoli telescopi

    CERN Document Server

    Gainer, Michael K

    2007-01-01

    Non sono necessariamente richiesti strumenti mastodontici per produrre risultati scientificamente validi nel campo dell’astronomia. Anche l’astrofilo dotato di un piccolo telescopio, con un diametro di soli 8-9 cm, può contribuire alla scienza del cielo realizzando utili osservazioni del Sole, della Luna, dei pianeti, delle comete, degli asteroidi, delle stelle doppie o variabili, delle nebulose e degli ammassi stellari. Il manuale di M.K. Gainer spiega quale sia la dotazione minima (un piccolo telescopio, un computer, una semplice fotocamera digitale), come utilizzarla, e quali siano le tecniche appropriate da adottare nelle osservazioni. Offre inoltre schemi per interpretare e ridurre i dati raccolti, nonché schede da compilare e da spedire ai centri di raccolta internazionali. Questo libro è il passaporto grazie al quale l’astrofilo può entrare a pieno titolo nel mondo affascinante della scienza astronomica.

  19. Depresion en pacientes con alteraciones del tiroides

    OpenAIRE

    Radanovic-Grguric´, Ljiljana; Filakovic´, Pavo; Barkic´, Jelena; Mandic´, Nikola; Karner, Ivan; Smoje, Juraj

    2003-01-01

    Nuestro estudio fue realizado en un grupo de 53 mujeres con disfunción tiroidea y 28 mujeres con depresión mayor. Empleamos la Escala de la Depresión de Hamilton, la Escala de Autoevaluación de la Depresión de Zung y la Escala sobre la Impresión Clínica Global. Los resultados del estudio demuestran que la mayoría de los pacientes con disfunción tiroidea se mostraron clínicamente significativos en cuanto al trastorno depresivo. Los episodios depresivos son más frecuentes en pacientes con hipot...

  20. Aprende Ajedrez con Rey - Parte 2

    OpenAIRE

    ESTÉVEZ MONTERO, RAÚL; Lloret Mauri, Jaime

    2016-01-01

    Es una pieza audiovisual creada con el objeto de atraer la atención de los niños de muy corta edad con el ajedrez y familiarizarlos con todas sus piezas y movimientos. Es una animación dirigida a un público infantil presentada por dibujos animados en 2D, en la que se ha intentado respetar en todo momento el argot de la comunidad ajedredística. En este video se presenta la segunda parte. Estévez Montero, R.; Lloret Mauri, J. (2016). Aprende Ajedrez con Rey - Parte 2. http://hdl.handle.net/1...

  1. Aprende Ajedrez con Rey - Parte 1

    OpenAIRE

    ESTÉVEZ MONTERO, RAÚL; Lloret Mauri, Jaime

    2016-01-01

    Es una pieza audiovisual creada con el objeto de atraer la atención de los niños de muy corta edad con el ajedrez y familiarizarlos con todas sus piezas y movimientos. Es una animación dirigida a un público infantil presentada por dibujos animados en 2D, en la que se ha intentado respetar en todo momento el argot de la comunidad ajedredística. En este video se presenta la primera parte. Estévez Montero, R.; Lloret Mauri, J. (2016). Aprende Ajedrez con Rey - Parte 1. http://hdl.handle.net/1...

  2. Plantas cubanas con efecto antiinflamatorio

    Directory of Open Access Journals (Sweden)

    Ada Ivis Regalado Veloz

    Full Text Available La actividad antiinflamatoria suscita gran interés científico en el área farmacológica, debido a que muchas enfermedades en su evolución cursan por procesos inflamatorios (artritis reumatoide, ateroesclerosis, cáncer, diabetes, gota, asma, dermatitis, trastornos neurodegenerativos y diversas dolencias menores. Las enfermedades inflamatorias constituyen un problema de salud importante, debido a la falta de medicamentos eficaces y seguros para su uso por periodos prolongados. Hoy en día se trabaja en la búsqueda de alternativas de antiinflamatorios más seguros, en el que las plantas medicinales, una de las formas más antiguas de tratamiento, constituyen una elección a considerar. En este trabajo se realizó una revisión bibliográfica, sobre especies de plantas que crecen en Cuba que le reportan propiedades farmacológicas como antinflamatorios. En la revisión de la literatura se utilizó la base de datos Medline (vía PubMed, así como revistas nacionales desde el periodo de 2000 hasta el presente, con las palabras claves "inflamación" y "plantas cubanas antiinflamatorias" o "actividad antiinflamatoria" y "plantas medicinales".

  3. Hospitalidad, con y sin papeles

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    Ana Paula Penchaszadeh

    Full Text Available Resumen El objetivo de este artículo es vincular el trabajo sobre el archivo de Jacques Derrida con la experiencia de la hospitalidad. Se intentará mostrar que, por un lado, se trata siempre de los papeles, de la legitimidad que éstos otorgan o no tanto a nivel filosófico (deseo de poseer los papeles que autoricen tal o cual decisión interpretativa, como a nivel político ("tener papeles" como el principio básico de todo derecho a tener derechos, de todo derecho a la comunidad. Mas también, por otro lado, se intentará pensar aquello que arruina la idea misma de tener o no tener (papeles, la idea de propiedad, aquello que hace imposible fundar una decisión o identidad en última instancia y, por ende, una soberanía, una frontera. La hospitalidad, la llegada inminente del otro, representa un desafío político y ético para la filosofía: pues no se trata de un saber, sino de una experiencia transformando el sustrato del nos-otros, del ser común.

  4. Itinerari Musicali con la Wiild

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    Elisabetta Nanni

    2013-03-01

    Full Text Available La Wiild, acronimo di Wiimote Lavagna Digitale, è uno strumento didattico che utilizza il telecomando della Wii, il famoso gioco della Nintendo, insieme a un software libero, rendendolo così estremamente versatile. Non vincolato a software proprietario, il suo utilizzo è legato alla capacità dell’insegnante di ripartire dalla didattica, dalle risorse selezionate e dall’epistemologia di ogni singola disciplina, trovando così nel proprio contesto un ruolo per le tecnologie. Il contributo presenta ipotesi di lavoro per l’educazione musicale nella scuola secondaria di primo grado che si sviluppano sia attraverso lo studio del rapporto suono/segno con affinità pittoriche e successiva codificazione grafica, sia attraverso un’attività di laboratorio in cui co-costruire percorsi storico-musicali. La Wiild diventerà davvero utile ed efficace nel momento in cui, affiancando le risorse selezionate dal docente, verrà utilizzata senza essere notata, giocando un ruolo di strumento tecnologico «normale e trasparente».

  5. Effects of highly conserved major histocompatibility complex (MHC extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas.

    Directory of Open Access Journals (Sweden)

    Mónica Costa

    Full Text Available Hereditary Hemochromatosis (HH is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation in HFE gene localized on chromosome 6p21.3 in linkage disequilibrium with the human leukocyte antigen (HLA-A locus. Although its genetic homogeneity, the phenotypic expression is variable suggesting the presence of modifying factors. One such genetic factor, a SNP microhaplotype named A-A-T, was recently found to be associated with a more severe phenotype and also with low CD8(+T-lymphocyte numbers. The present study aimed to test whether the predictive value of the A-A-T microhaplotype remained in other population settings. In this study of 304 HH patients from 3 geographically distant populations (Porto, Portugal 65; Alabama, USA 57; Nord-Trøndelag, Norway 182, the extended haplotypes involving A-A-T were studied in 608 chromosomes and the CD8(+ T-lymphocyte numbers were determined in all subjects. Patients from Porto had a more severe phenotype than those from other settings. Patients with A-A-T seemed on average to have greater iron stores (p = 0.021, but significant differences were not confirmed in the 3 separate populations. Low CD8(+ T-lymphocytes were associated with HLA-A*03-A-A-T in Porto and Alabama patients but not in the greater series from Nord-Trøndelag. Although A-A-T may signal a more severe iron phenotype, this study was unable to prove such an association in all population settings, precluding its use as a universal predictive marker of iron overload in HH. Interestingly, the association between A-A-T and CD8(+ T-lymphocytes, which was confirmed in Porto and Alabama patients, was not observed in Nord-Trøndelag patients, showing that common HLA haplotypes like A*01-B*08 or A*03-B*07 segregating with HFE/C282Y in the three populations may carry different messages. These findings further strengthen the relevance of HH as a good disease model to search for novel candidate loci

  6. Bases tratadas con cemento, en California

    Directory of Open Access Journals (Sweden)

    Chinchilla, M.

    1962-05-01

    Full Text Available El uso de bases tratadas con cemento para autopistas se inició en el Estado de California en 1938, empleándose para carreteras con determinadas condiciones de tráfico. Inicialmente, se especificó el uso obligatorio de plantas mezcladoras para asegurar el debido control de las proporciones adecuadas.

  7. Fuerza manual de adultos con discapacidad intelectual

    Directory of Open Access Journals (Sweden)

    Ruth Cabeza Ruiz

    2017-09-01

    Full Text Available Objetivo. Presentar una descripción de la fuerza de prensión manual de hombres y mujeres con discapacidad intelectual (DI y comparar los resultados con valores de referencia de otras personas con y sin discapacidad intelectual. Método. El presente trabajo es un estudio transversal observacional, financiado por la Fundación SAMU, en el que se evaluaron a 122 personas con DI (86 hombres y 36 mujeres durante el desarrollo de unas jornadas de carácter recreativo en las que participaron varias asociaciones de atención a este colectivo. La batería de test utilizada fue el Alpaha-Fit Test Battery for Adults. Resultados. Se presentan los resultados relacionados con las variables de fuerza del miembro superior (Hand Grip Strength por grupos de edad (20-24, 25- 29, 30-34, 35-39, 40-44, 45-49, 50-54, 55-59 años. Los datos muestran valores que oscilan desde los 31 kg en los hombres más jóvenes con DI hasta los 13.3 kg del grupo más maduro de mujeres. Estos hallazgos son similares a los valores de referencia de población con DI española. Sin embargo, son muy inferiores a los obtenidos por la población sin discapacidad de la misma edad. Conclusión. Los resultados evidencian el menor rendimiento de las personas con DI en pruebas de fuerza de prensión manual por lo que se hace evidente la necesidad de llevar a cabo programas de ejercicio físico o deporte con las personas con DI.

  8. Experiencias de haber crecido con un padre/madre con trastorno mental severo (TMS)

    OpenAIRE

    Vivanco B, Gabriela; Grandón F, Pamela

    2016-01-01

    Introducción. La experiencia de vivir con personas que presentan un Trastorno Mental Severo (TMS) es difícil para las familias, en especial para los hijos quienes han sido poco estudiados. El objetivo de la investigación fue conocer cómo la experiencia de haber vivido con un padre o madre con un trastorno mental severo influyó en la infancia, adolescencia y adultez joven de sus hijos e hijas. Método. Se analizan las experiencias de convivencia con un padre/madre con TMS en 10 hijos (6 hombres...

  9. Valoración clínica, psicológica y de laboratorio a niños con hiperfenilalaninemia benigna al nacimiento

    Directory of Open Access Journals (Sweden)

    Enna Gutiérrez García

    2002-12-01

    Full Text Available Las hiperfenilalaninemias, alteraciones en el metabolismo de la fenilalanina, poseen heterogeneidad genética, clínica y bioquímica, con fenilalanina en plasma, mayor de 120 µmol/L (2 mg/dL. La benigna tiene valores entre 240 y 600 µmol/L (4 a 10 mg/dL con mayor actividad enzimática y no requiere tratamiento dietético. Se realizó una valoración clínica y de laboratorio a 32 niños con esta alteración al nacimiento entre 1989 y 1999, para conocer variaciones en las concentraciones séricas en el tiempo, presentación de algún síntoma o signo clínico de la enfermedad y el coeficiente de inteligencia de estos. Los 32 niños estudiados presentaron disminución de niveles del aminoácido, con respecto al nacimiento, entre 90 y 287 µmol/L (1, 5 mg/dL a 5, 52 mg/dL. La mayoría no mostró síntomas o signos clínicos de fenilcetonuria. El coeficiente de inteligencia promedio fue de 100,6 puntos. Se recomienda el estudio a todos los niños con esta alteración en Cuba y realizar estudios de mutaciones para demostrar la heterogeneidad alélica que explicara la expresividad variable en el fenotipo bioquímico y clínico en estos niños.Hyperphenylalaninemias, which are disorders in the metabolism of phenylalanine, show genetic, clinical and biochemical heterogeneity, with phenylalanine in plasma over 120 µmol/L (2 mg/dL. Benign hyperphenylalaninemia has values from 240 to 600 µmol/L (4 a 10 mg/dL with higher enzymatic activity and does not require diet therapy. A clinical and lab assessment of 32 children with this disorder at birth was made from 1989 to 1999 to find out the variations in time of serum concentrations, occurrence of some clinical symptom or sign of the disease and their intelligence quotient. The 32 studied children presented with reduction of aminoacid levels of 90 to 287 µmol/L (1, 5 mg/dL a 5, 52 mg/dL with respect to birth levels. The majority did not show clinical symptoms or signs of phenylketonuria. Average

  10. Evaluación del efecto citotóxico y del daño genético de extractos estandarizados de Solanum nudum con actividad antiplasmodial

    Directory of Open Access Journals (Sweden)

    Paola García-Huertas

    2013-03-01

    Full Text Available Introducción. La planta Solanum nudum es ampliamente usada en la medicina tradicional del Pacífico colombiano para tratar las fiebres y la malaria, o paludismo, y se ha convertido en una fuente de nuevas moléculas promisorias. Objetivo. Evaluar el efecto citotóxico y daño genético de extractos estandarizados de S. nudum en diferentes modelos celulares. Materiales y métodos. A 66 extractos estandarizados de S. nudum se les evaluó la actividad anti-Plasmodium in vitro en dos cepas de Plasmodium falciparum, una sensible (NF54 y otra resistente (FCB2 a la cloroquina, y la citotoxicidad en células U937 y HepG2. Se seleccionaron los extractos que presentaron actividad anti-Plasmodium y baja toxicidad, y se les estimó su efecto hemolítico en eritrocitos sanos O+, el efecto mutagénico en las cepas TA98 y TA100 de Salmonella Typhimurium y el efecto genotóxico en células U937. Resultados. Se seleccionaron cinco extractos como promisorios (28MA1, 29MA1, 51MA1, 55MA1 y 61MA1, los cuales fueron activos en las cepas de P. falciparum con concentración inhibitoria 50 (CI50 entre 9,8 y 54,8 µg/ml. El extracto 29MA1 fue el más selectivo para Plasmodium, con índice de selectividad de 4,4 y 14,5 para las células U937 y HepG2, respectivamente. En ningún extracto se observó efecto hemolítico a 250 µg/ml, no causaron mutaciones en las cepas TA98 y TA100 de S. Typhimurium, ni generaron efectos genotóxicos en células U937. Conclusiones. La utilización de extractos estandarizados de S. nudum contribuye con los trabajos encaminados al desarrollo de una nueva formulación farmacéutica para tratar la malaria a partir de productos naturales.   doi: http://dx.doi.org/10.7705/biomedica.v33i1.838

  11. Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mellitus type 2 in a case-control study of women in Brazil.

    Science.gov (United States)

    Gomes, K B; Carvalho, M G; Coelho, F F; Rodrigues, I F; Soares, A L; Guimarães, D A; Fernandes, A P

    2009-10-27

    Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2). We investigated whether these mutations are associated with increased risk for the development of DM2 in women in Brazil. Seventy-two women with clinical diagnosis of DM2 under treatment with hypoglycemic agents and a control group composed of 72 women with no clinical history of diabetes were studied. The C282Y and H63D mutations were determined by PCR-RFLP. Significant differences were not observed for C282Y and H63D, when we compared diabetic and non-diabetic women. We suggest that mutations C282Y and H63D in the HFE gene are not significant risk factors for the development of DM2 in Brazilian women.

  12. El maltrato en las personas con discapacidad

    OpenAIRE

    Revuelta, Lucerga

    2014-01-01

    El maltrato no solo se realiza por acción sino también por omisión, la indiferencia hacia la persona con discapacidad es una forma de maltrato muy frecuente. Por ejemplo, ignorar y desatender las necesidades de la persona con discapacidad o, al contrario, la sobreprotección son maneras de maltrato. Cuando a un niño con discapacidad el padre o cuidador le hace todo, el niño se siente agredido pues le están incapacitando más de lo que su enfermedad ya lo hace.

  13. Hiperalgesia asociada al tratamiento con opioides

    OpenAIRE

    A. Gil Martín; M. Moreno García; J. Sánchez-Rubio Ferrández; T. Molina García

    2014-01-01

    La hiperalgesia inducida por opioides es una reacción paradójica caracterizada por una percepción intensificada de dolor relacionada con el uso de estos medicamentos en ausencia de progresión de la enfermedad o de síndrome de retirada. A diferencia de los casos de tolerancia, definida como pérdida de potencia analgésica durante el uso prolongado de opioides, no se produce mejoría con el escalado de dosis. La hiperalgesia inducida por opioides se ha manifestado en pacientes con dosis de manten...

  14. Tratamiento conservador en pacientes con retinoblastoma bilateral

    Directory of Open Access Journals (Sweden)

    Juan C. Suárez

    2008-11-01

    Full Text Available OBJETIVO: comparar el tratamiento convencional del retinoblastoma bilateral, usado hasta hace algunos años, consistente en radioterapia o enucleación bilateral, con el tratamiento conservador actual que incluye termoterapia transpupilar (TTT o TTT/quimioterapia al menos en un ojo, en niños con diagnóstico de retinoblastoma bilateral. DISEÑO: estudio retrospectivo descriptivo. MUESTRA: 20 pacientes con diagnóstico de retinoblastoma bilateral que consultaron al Hospital Universitario San Vicente de Paúl, de Medellín, Colombia, entre 1997 y 2007. MÉTODO: se hizo enucleación del ojo con el tumor de mayor tamaño. En el otro ojo se hizo tratamiento con TTT, con el láser diodo (810 nm, spot amplio, solo o combinado con otras terapias. RESULTADOS: se dividió a los pacientes en dos grupos: 16 pacientes (32 ojos en el grupo 1 tratados conservadoramente y 4 pacientes (8 ojos en el grupo 2 con tratamiento convencional. El rango de edad fue de 1-72 meses en el grupo 1 y de 1-12 meses en el grupo 2. El tiempo de seguimiento fue de 7-67 meses para el grupo 1 y de 13-73 meses para el grupo 2. En el grupo 1 se hizo enucleación de 16 ojos (50%, radioterapia externa de uno (3,1%, quimioterapia más termoterapia de 5 (15,6% y quimioterapia más termoterapia más crioterapia de 10 (31,3%. En todos los pacientes se logró preservar al menos un ojo. En el grupo 2, se enuclearon 7 ojos (87,5% y se hizo radioterapia externa más enucleación en un paciente (12.5%. Además, todos los pacientes recibieron quimioterapia. CONCLUSIÓN: la terapia conservadora actual consistente en tratamiento local (termoterapia, crioterapia o braquiterapia y quimiorreducción permite preservar al menos un ojo y en algunos casos de los dos, muchas veces con buena agudeza visual, en niños con retinoblastoma bilateral; se evitan así la enucleación bilateral y la radioterapia externa usada en el tratamiento convencional con todos sus efectos secundarios. La enucleación contin

  15. Paciente con tumor de cuerpo carotideo

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    Mariuska Forteza Sáez

    Full Text Available Los tumores de cuerpo carotideo (paragangliomas son neoplasias altamente vascularizadas, muy poco frecuentes y generalmente benignas, originadas en los quimiorreceptores del cuerpo carotideo. Se presenta el caso de un paciente de 54 años, con aumento de volumen cervical derecho, asintomático, con estudio preoperatorio y angiografía realizados por tomografía axial computarizada, que resultan compatibles con tumor de cuerpo carotideo. Se realiza disección subadventicial, informando la biopsia paraganglioma. El tumor fue completamente resecado, sin evidencia de recurrencia y sin complicaciones.

  16. Presa con revestimiento asfáltico

    Directory of Open Access Journals (Sweden)

    Proudfit, D. P.

    1960-07-01

    Full Text Available La presa denominada Montgomery se halla situada sobre el río South Platte River, a unos 8 km aguas arriba de la ciudad de Alma, del Estado de Colorado (EE. UU., y en la ladera oriental de la cordillera Continental Divide. El cuerpo o dique de esta presa está constituido por piedra, revestida con una capa de hormigón asfáltico en el paramento de contacto con el agua.

  17. Trastornos temporomandibulares en pacientes con maloclusiones

    Directory of Open Access Journals (Sweden)

    Luis Soto Cantero

    Full Text Available Introducción: existe una prevalencia de trastornos oclusales en gran medida relacionados con la presencia de disfunción temporomandibular. Objetivo: determinar el grado de disfunción temporomandibular según el Índice de Maglione en correspondencia con la prevalencia de maloclusiones en el área de salud del policlínico "Turcios Lima". Métodos: se realizó un estudio observacional descriptivo, de corte transversal, en la consulta de ortodoncia, de junio del 2008 a junio del 2009. De un universo constituido por los 280 pacientes que acudieron al servicio de ortodoncia en el período señalado con presencia de maloclusiones, se seleccionó una muestra de 84 pacientes por muestreo aleatorio simple, teniendo en cuenta los criterios de inclusión y exclusión realizados por criterios de expertos. Resultados: presentaban disfunción temporomandibular 74 pacientes y dentro de ellos 44 (52,4 % tenían disfunción grado II (Moderada. El 97 % de los pacientes con relación molar de clase II, presentaban disfunción temporomandibular. El 42,9 % de los pacientes con una maloclusión, presentaban disfunción grado I. El 60 % de los pacientes con dos maloclusiones presentaban disfunción grado II y el 66,7 % de los pacientes con tres maloclusiones, presentaban disfunción grado III. La mayor cantidad de pacientes tuvieron disfunción grado II (Moderada. Conclusiones: el mayor por ciento de los pacientes con disfunciones presentó una clase II molar y a medida que aumentó el número de maloclusiones aumentó también la severidad de la disfunción.

  18. RadCon: A Radiological Consequences Model

    International Nuclear Information System (INIS)

    Crawford, J.; Domel, R.U.

    2000-05-01

    RadCon estimates the dose received by user selected groups in the population from an accidental release of radionuclides to the environment. The exposure pathways considered are external exposure from the cloud and ground and internal exposure from inhalation and ingestion of contaminated food. Atmospheric dispersion modelling is carried out externally to RadCon.Given a two dimensional time varying air and ground concentration of radioactive elements, RadCon allows the user to: view the air and ground concentration over the affected area, select optional parameters and calculate the dose to people,display the results to the user, and change the parameter values. RadCon offers two user interfaces: 1) the standard graphical user interface which is started using Java DoseApp at the command line, or by setting up a shortcut to this command (particularly when RadCon is installed on a PC) and 2) the text based interface used to generate information for the model inter-comparison exercise . This is initiated using Java BIOMASS at the command line, or an equivalent shortcut. The text based interface was developed for research purposes and is not generally available. Appendices A, B and C provide a summary of instructions on setting up RadCon. This will generally be carried out by the computer support personnel

  19. Adolescente femenino con granulomatosis de Wegener fulminante

    Directory of Open Access Journals (Sweden)

    S C Scheffler-Mendoza

    2017-01-01

    Full Text Available Adolescente femenino de 13 años de edad, originaria de Guerrero, grupo étnico mixteco, padres analfabetos y con poco entendimiento del español. Sin otros antecedentes de importancia para el padecimiento. Inició un mes previo con la aparición de una pápula hipercrómica en párpado superior derecho que en los 10 días previos al ingreso aumentó de volumen generando proptosis. Al interrogatorio se negó dolor, lagrimeo, fiebre, o pérdida de peso. Ingresó con fiebre (39.0°C, palidez generalizada, proptosis derecha con exposición de córnea y conjuntiva, eritema periorbitario, movimientos oculares y agudeza visual disminuidos (i.e. contaba dedos a 1 m, pupila con tendencia a midriasis, hiperreactividad a la luz, y fondo de ojo con papila hiperémica edematosa y tortuosidad peripapilar. El resto de exploración no mostró datos relevantes. Se hospitalizó para iniciar tratamiento antimicrobiano parenteral de amplio espectro (i.e. ceftriaxona y vancomicina y abordar proptosis unilateral.

  20. RadConEd: A Graphical Data Editor for the Radiological Consequences Model, RadCon

    International Nuclear Information System (INIS)

    Crawford, J.; Domel, R.U.

    2000-05-01

    This document describes the application, RadConEd, which has been designed and implemented to enable users of the RadCon system to update these parameter files. The RadCon system is written in the Java programming language, and as such provides portability across computer platforms. The software described in this report was developed in line with the portability requirements of RadCon, thus providing a uniform user interface across computer platforms and bypassing the need of using system editors. In addition a number of data integrity measures were implemented

  1. Enfermedad coronaria en pacientes con psoriasis

    Directory of Open Access Journals (Sweden)

    Walter Masson

    2013-10-01

    Full Text Available Comunicaciones previas asociaron la psoriasis con la enfermedad coronaria. Desconocemos si en nuestro país o región existe dicha asociación. Se realizó un estudio transversal analizando los datos de la historia clínica electrónica de un sistema de salud de Buenos Aires. Analizamos todos los pacientes mayores de 18 años con diagnóstico de psoriasis entre el 1 de enero de 2003 y el 31 de julio de 2011 y los comparamos con un grupo control, en una relación 2:1, obtenido en forma aleatoria del mismo sistema de salud, apareados por edad y sexo. Determinamos la prevalencia de los factores de riesgo cardiovascular y de enfermedad coronaria. Analizamos la asociación entre la enfermedad coronaria y la psoriasis mediante análisis uni y multivariado. Se incluyeron 3 833 sujetos (1 286 pacientes con psoriasis y 2 547 controles. La prevalencia de hipertensión arterial (50% vs. 38%, p < 0.001, tabaquismo (25% vs. 17%, p < 0.001, diabetes (12% vs. 8%, p < 0.001 y enfermedad coronaria (4.98% vs. 3.06%, p = 0.003 fue mayor en los sujetos con psoriasis en comparación con el grupo control. Independientemente de la edad, la presencia de diabetes, hipertensión arterial o tabaquismo, hubo una asociación significativa entre la enfermedad coronaria y la psoriasis (OR 1.48, IC95% 1.04-2.11, p = 0.03. En conclusión, en esta población de Buenos Aires, los pacientes con psoriasis tuvieron una mayor prevalencia de diabetes, hipertensión arterial, tabaquismo y enfermedad coronaria. La asociación entre la psoriasis y la enfermedad coronaria fue independiente de los factores de riesgo explorados.

  2. Mincle Signaling Promotes Con-A Hepatitis

    Science.gov (United States)

    Greco, Stephanie H.; Torres-Hernandez, Alejandro; Kalabin, Aleksandr; Whiteman, Clint; Rokosh, Rae; Ravirala, Sushma; Ochi, Atsuo; Gutierrez, Johana; Salyana, Muhammad Atif; Mani, Vishnu R.; Nagaraj, Savitha V.; Deutsch, Michael; Seifert, Lena; Daley, Donnele; Barilla, Rocky; Hundeyin, Mautin; Nikifrov, Yuriy; Tejada, Karla; Gelb, Bruce E.; Katz, Steven C.; Miller, George

    2016-01-01

    Concanavalin-A (Con-A) hepatitis is regarded as a T cell-mediated model of acute liver injury. Mincle is a C-type lectin receptor (CLR) that is critical in the immune response to mycobacteria and fungi, but does not have a well-defined role in pre-clinical models of non-pathogen mediated inflammation. Since Mincle can ligate the cell death ligand SAP130, we postulated that Mincle signaling drives intrahepatic inflammation and liver injury in Con-A hepatitis. Acute liver injury was assessed in the murine Con-A hepatitis model using C57BL/6, Mincle−/−, and Dectin-1−/− mice. The role of C/EBPβ and HIF-1α signaling was assessed using selective inhibitors. We found that Mincle was highly expressed in hepatic innate inflammatory cells and endothelial cells in both mice and humans. Furthermore, sterile Mincle ligands and Mincle signaling intermediates were increased in the murine liver in Con-A hepatitis. Most significantly, Mincle deletion or blockade protected against Con-A hepatitis whereas Mincle ligation exacerbated disease. Bone marrow chimeric and adoptive transfer experiments suggested that Mincle signaling in infiltrating myeloid cells dictates disease phenotype. Conversely, signaling via other CLRs did not alter disease course. Mechanistically, we found that Mincle blockade decreased the NF-κβ related signaling intermediates, C/EBPβ and HIF-1α, both of which are necessary in macrophage-mediated inflammatory responses. Accordingly, Mincle deletion lowered production of nitrites in Con-A hepatitis and inhibition of both C/EBPβ and HIF1-α reduced the severity of liver disease. Our work implicates a novel innate immune driver of Con-A hepatitis and, more broadly, suggests a potential role for Mincle in diseases governed by sterile inflammation. PMID:27559045

  3. Mincle Signaling Promotes Con A Hepatitis.

    Science.gov (United States)

    Greco, Stephanie H; Torres-Hernandez, Alejandro; Kalabin, Aleksandr; Whiteman, Clint; Rokosh, Rae; Ravirala, Sushma; Ochi, Atsuo; Gutierrez, Johana; Salyana, Muhammad Atif; Mani, Vishnu R; Nagaraj, Savitha V; Deutsch, Michael; Seifert, Lena; Daley, Donnele; Barilla, Rocky; Hundeyin, Mautin; Nikifrov, Yuriy; Tejada, Karla; Gelb, Bruce E; Katz, Steven C; Miller, George

    2016-10-01

    Con A hepatitis is regarded as a T cell-mediated model of acute liver injury. Mincle is a C-type lectin receptor that is critical in the immune response to mycobacteria and fungi but does not have a well-defined role in preclinical models of non-pathogen-mediated inflammation. Because Mincle can ligate the cell death ligand SAP130, we postulated that Mincle signaling drives intrahepatic inflammation and liver injury in Con A hepatitis. Acute liver injury was assessed in the murine Con A hepatitis model using C57BL/6, Mincle(-/-), and Dectin-1(-/-) mice. The role of C/EBPβ and hypoxia-inducible factor-1α (HIF-1α) signaling was assessed using selective inhibitors. We found that Mincle was highly expressed in hepatic innate inflammatory cells and endothelial cells in both mice and humans. Furthermore, sterile Mincle ligands and Mincle signaling intermediates were increased in the murine liver in Con A hepatitis. Most significantly, Mincle deletion or blockade protected against Con A hepatitis, whereas Mincle ligation exacerbated disease. Bone marrow chimeric and adoptive transfer experiments suggested that Mincle signaling in infiltrating myeloid cells dictates disease phenotype. Conversely, signaling via other C-type lectin receptors did not alter disease course. Mechanistically, we found that Mincle blockade decreased the NF-κβ-related signaling intermediates C/EBPβ and HIF-1α, both of which are necessary in macrophage-mediated inflammatory responses. Accordingly, Mincle deletion lowered production of nitrites in Con A hepatitis and inhibition of both C/EBPβ and HIF-1α reduced the severity of liver disease. Our work implicates a novel innate immune driver of Con A hepatitis and, more broadly, suggests a potential role for Mincle in diseases governed by sterile inflammation. Copyright © 2016 by The American Association of Immunologists, Inc.

  4. Variables socionutricionales de hogares mazahuas integrados por preescolares desnutridos con madres con obesidad y sin obesidad

    Directory of Open Access Journals (Sweden)

    Conzuelo González, Viridiana Vanessa

    2009-01-01

    Full Text Available El primer objetivo fue conocer cuántos menores de cinco años con diferentes grados de desnutrición tienen una madre con sobrepeso/obesidad/ en una comunidad indígena que vive en extrema pobreza y bajo condiciones de migración masculina internacional. El segundo fue comparar tres variables socionutricionales (ingreso familiar, educación de la madre y adecuación nutrimental de la dieta diaria entre estos hogares y los hogares con desnutrición infantil y madres sin obesidad. Se realizó un estudio transversal (2006-2007, en la comunidad mazahua de San Francisco Tepeolulco, Municipio de Temascalcingo; que incluyó a 85 hogares integrados por preescolares con desnutrición inscritos al programa Oportunidades. Se determinó el estado nutrición de los preescolares con indicadores antropométricos y se obtuvo el IMC de las madres de estos infantes. Se aplicó una encuesta socionutricional, incluida el recordatorio de 24 horas, y complementado con la observación participante (cualitativa. Se encontró que 83% de las madres mazahuas presentaron sobrepeso u obesidad. El estado de nutrición de los preescolares con madres con obesidad presentó un porcentaje mayor de desnutrición (76%. En la variable género, se encontró que 54% de los niños con madres con obesidad tenía baja talla. Al relacionar el nivel educativo de la madre, esta variable resultó ser estadísticamente significativa (p=0.015, donde el analfabetismo está más relacionado con la desnutrición infantil que tienen madres de bajo y/o peso normal. La elevada prevalencia de hogares conformados con preescolares con desnutrición y madres con obesidad, es un síntoma más de la pobreza en zonas indígenas en México, con bajo índice de desarrollo humano.

  5. Asociación del polimorfismo del codon 72 del gen p53 con el riesgo de cáncer gástrico en una población de alto riesgo de Costa Rica

    Directory of Open Access Journals (Sweden)

    Warner Alpízar-Alpízar

    2005-09-01

    Full Text Available El cáncer gástrico es la segunda causa de muerte por cáncer en el mundo. Varios factores han sido asociados con el riesgo de llegar a desarrollarlo, entre ellos la predisposición genética. El gen p53 presenta un polimorfismo en el codón 72, el cual ha sido asociado con un mayor riesgo de desarrollar varios tipos de cáncer entre ellos el gástrico. El objetivo de este estudio fue determinar la asociación del polimorfismo localizado en el codón 72 del gen p53 con el riesgo de cáncer gástrico y lesiones gástricas leves en una población de alto riesgo de Costa Rica. El análisis del polimorfismo se llevó a cabo mediante PCR-RFLP, en una muestra de 58 pacientes de cáncer gástrico, 99 personas controles y 41 individuos clasificados como grupos I y II de acuerdo con la clasificación histológica japonesa. No se determinó asociación del polimorfismo del codón 72 de p53 con el riesgo de cáncer gástrico, ni de lesiones gástricas leves en la muestra estudiada. Con base en este estudio y otros que han investigado el polimorfismo del codón 72 del gen p53, no está claro el papel que podría estar jugando dicho polimorfismo en el desarrollo de cáncer gástrico. Mutaciones de novo en el gen p53 producidas durante el desarrollo neoplásico de la enfermedad podrían tener un mayor efecto que polimorfismos de línea germinal de este mismo gen. Existen otros genes polimórficos que también se han asociado con el riesgo de desarrollar cáncer gástrico.Association of the p53 codon 72 polymorphism to gastric cancer risk in a hight risk population of Costa Rica. Gastric cancer is the second most common cancer associated death cause worldwide. Several factors have been associated with higher risk to develop gastric cancer, among them genetic predisposition. The p53 gene has a polymorphism located at codon 72, which has been associated with higher risk of several types of cancer, including gastric cancer. The aim of this study was to determine

  6. Epilepsia de la infancia con paroxismos occipitales

    Directory of Open Access Journals (Sweden)

    Albia Pozo Alonso

    1999-09-01

    Full Text Available Se reporta que la epilepsia de la infancia con paroxismos occipitales constituye un síndrome epiléptico muy bien definido; se incluye en el grupo de las epilepsias idiopáticas relacionadas con localización. Los ataques comienzan habitualmente con síntomas visuales, en ocasiones seguidos por ataques hemiclónicos, parciales complejos y tónicoclónicos generalizados. El electroencefalograma interictal muestra complejos de puntaonda de localización occipital y temporal posterior que desaparecen con la apertura de los ojos. Se presenta una paciente de 8 años de edad que reúne los criterios clínicos y electroencefalográficos de la epilepsia de la infancia con paroxismos occipitales y se enfatiza en la evolución supuestamente benigna de dicho síndrome.Is is reported that epilepsy of childhood with occipital paroxysms is an epileptic syndrome that is well defined. It is included in the group of related idiopathic epilepsies with localization. Seizures habitually begin with visual symptoms, which are ocassionally followed by hemiclonic, complex partial, and generalized tonicclonic seizures. The interictal EEG shows spike-wave complexes of occipital and temporal posterior localization that are suppressed by eye opening. A patient aged 8 in whom the clinical and electroencephalographic criteria of epilepsy of childhood with occipital paroxysms are present is studied in this paper. Emphasis is made on the apparently benign evolution of this syndrome.

  7. Fluorescence resonance energy transfer-based real-time polymerase chain reaction method without DNA extraction for the genotyping of F5, F2, F12, MTHFR, and HFE.

    Science.gov (United States)

    Martinez-Serra, Jordi; Robles, Juan; Nicolàs, Antoni; Gutierrez, Antonio; Ros, Teresa; Amat, Juan Carlos; Alemany, Regina; Vögler, Oliver; Abelló, Aina; Noguera, Aina; Besalduch, Joan

    2014-01-01

    Blood samples are extensively used for the molecular diagnosis of many hematological diseases. The daily practice in a clinical laboratory of molecular diagnosis in hematology involves using a variety of techniques, based on the amplification of nucleic acids. Current methods for polymerase chain reaction (PCR) use purified genomic DNA, mostly isolated from total peripheral blood cells or white blood cells (WBC). In this paper we describe a real-time fluorescence resonance energy transfer-based method for genotyping directly from blood cells. Our strategy is based on an initial isolation of the WBCs, allowing the removal of PCR inhibitors, such as the heme group, present in the erythrocytes. Once the erythrocytes have been lysed, in the LightCycler(®) 2.0 Instrument, we perform a real-time PCR followed by a melting curve analysis for different genes (Factors 2, 5, 12, MTHFR, and HFE). After testing 34 samples comparing the real-time crossing point (CP) values between WBC (5×10(6) WBC/mL) and purified DNA (20 ng/μL), the results for F5 Leiden were as follows: CP mean value for WBC was 29.26±0.566 versus purified DNA 24.79±0.56. Thus, when PCR was performed from WBC (5×10(6) WBC/mL) instead of DNA (20 ng/μL), we observed a delay of about 4 cycles. These small differences in CP values were similar for all genes tested and did not significantly affect the subsequent analysis by melting curves. In both cases the fluorescence values were high enough, allowing a robust genotyping of all these genes without a previous DNA purification/extraction.

  8. Aspectos Psicosociales Relacionados con el TEPT en Pacientes con Cáncer de Mama

    OpenAIRE

    Hernández Moreno, Fresia Paloma; Landero Hernández, René

    2015-01-01

    El objetivo del estudio fue analizar la relación del estrés, la depresión y las estrategias de afrontamiento con el Trastorno de Estrés Postraumático (TEPT) en una muestra de pacientes con cáncer de mama. Se realizó con una muestra no probabilística de 52 mujeres con cáncer de mama. Se encontró una relación entre TEPT y estrés (r= .344, p= .014), TEPT y depresión (rs=.346, p= .013). El TEPT correlacionó con evitación cognitiva (r= .437, p= .001), TEPT y desesperanza (rs= .437, p= .001) y TEPT...

  9. Desarrollo de aleaciones multifuncionales con base titanio

    OpenAIRE

    Pareja, Ramiro

    2007-01-01

    El Laboratorio de Materiales Nano-estructurados y Multifuncionales del Departamento de Física de la Universidad Carlos III de Madrid se dedica al desarrollo, procesado y caracterización de aleaciones con propiedades mejores que las preparadas por métodos convencionales. La mejora de las propiedades se consigue produciendo las aleaciones con un tamaño de grano nanométrico o ultrafino, o introduciendo una dispersión de nano-partículas de óxido en la matriz. El grupo está interesado en algún tip...

  10. TIROTOXICOSIS GESTACIONAL: PATOLOGIA CON RIESGO VITAL

    OpenAIRE

    Valdés R.,Enrique; Pilasi M.,Carlos; Núñez U.,Tatiana

    2003-01-01

    Se presenta un caso clínico con diagnóstico final de Tirotoxicosis gestacional que debuta con una complicación excepcional, insuficiencia cardíaca congestiva e hipertensión pulmonar severa. Se presenta la experiencia del Hospital Clínico de la Universidad de Chile, proponiendo que su diagnóstico y tratamiento oportunos son la base del pronóstico de esta patología de riesgo vital para el binomio madre-hijo

  11. Amplificadores con transistores. Estudio y dimensionado

    OpenAIRE

    Lubiano García, Adrián

    2017-01-01

    Este trabajo es un estudio de las distintas configuraciones de los amplificadores con transistores vistos en la asignatura de Electrónica Analógica del tercer curso del Grado en Ingeniería en Electrónica Industrial y Automática de la Escuela de Ingenierías Industriales de la Universidad de Valladolid. En este trabajo se mostrarán los pasos seguidos en la creación de una aplicación con Visual Basic para la realización de los ejercicios de las distintas configuraciones, así...

  12. Galaxias australes con núcleo doble

    Science.gov (United States)

    Gimeno, G.; Díaz, R.; Carranza, G.

    Se estudia una muestra de galaxias australes con núcleo doble a partir de una búsqueda extensiva en la literatura. Se analizan las características morfológicas, fotométricas y espectroscópicas de la muestra. Para algunas galaxias se han realizado observaciones con el espectrógrafo multifunción (EMF) de la Estación Astrofísica de Bosque Alegre a partir de las cuales se determinaron parámetros cinemáticos.

  13. IoT con Raspberry Pi

    OpenAIRE

    García Muelas, Carlos

    2015-01-01

    Estudio de diferentes plataformas software y hardware del internet de las cosas. Aplicación real con Raspberry Pi. Estudi de diferents plataformes programari i maquinari de l'internet de les coses. Aplicació real amb Raspberry Pi. Bachelor thesis for the Telecommunication Technologies program on Telematics.

  14. en personas con el VIH/SIDA

    Directory of Open Access Journals (Sweden)

    Ximena Palacios Espinosa

    2006-01-01

    Full Text Available El objetivo de este estudio fue hallar la relación de la intención e ideación suicida con algunas variables sociodemográficas, las características de la enfermedad, el tratamiento antirretroviral y los aspectos piscoafectivos en personas con el VIH/SIDA que residen en Bogotá (Colombia y pertenecientes a una fundación. Para ello, se tomó una muestra de 75 pacientes con VIH positivo a quienes se evaluó a través de una entrevista semiestructurada y dos instrumentos: el inventario de depresión de Beck (IBD y la escala de Ideación Suicida (SSI. Los resultados mostraron que solo 29 personas tenían ideación suicida y 10 intención suicida: De los 10 solo 2 sujetos tenían intención después del diagnóstico. Se encontró una relación estadística significativa para ideación suicida e intención suicida con edad, estrato socioeconómico, estado civil, orientación sexual, las características de la enfermedad, el tratamiento antirretroviral y los aspectos piscoafectivos.

  15. La relazione empatica con i robot

    NARCIS (Netherlands)

    Marti, P.; Iacono, I.; Tittarelli, M.

    2013-01-01

    È possibile instaurare una relazione empatica tra un essere umano e un robot? Il presente studio valuta le soluzioni di design adottate nella progettazione di una maschera empatica, implementata su un tablet, che consente all’anziano di dialogare nell’ambiente domestico con un robot che lo assiste

  16. Sarcoma de Kaposi en paciente con SIDA

    Directory of Open Access Journals (Sweden)

    Jesús Ramón León Polanco

    2015-01-01

    Full Text Available Se presenta el caso de un paciente masculino de 33 años de edad, con antecedentes de VIH-SIDA desde hace 10 años, que se mantiene en tratamiento con antirretrovirales. Durante todo este tiempo ha presentado varios episodios de infecciones respiratorias, incluyendo tuberculosis pulmonar 5 años atrás. Acude a consulta refiriendo edemas en miembros inferiores acompañado de lesiones en piel de color violáceo de un año de evolución, previamente interpretado como linfangitis rebelde al tratamiento y que se extendió a la cara interna de los muslos y a los miembros inferiores. Con pérdida de peso, no prurito en las lesiones, fiebre, lesiones en la mucosa oral. Se determinó hemoglobina 89 g/L, leucocitos 4,5 x 109 /L, se estudiaron las funciones hepática y renales resultando normales. Radiografías de tórax y ultrasonido abdominal normales. Se realizó estudio anatomopatológico de piel que informó Sarcoma de Kaposi. Se impuso tratamiento con quimioterapia

  17. Las construcciones con esqueleto en madera

    Directory of Open Access Journals (Sweden)

    Heinz Leser S.

    1984-06-01

    Estos sistemas se emplean preferentemente en viviendas prefabricadas y edificios de pequeña envergadura. Finalmente, consideramos las construcciones con "esqueleto en madera", cuyo campo de aplicación principal está en las edificaciones de mediana extensión: escuelas, centros comunitarios, pequeñas industrias o bloques habitacionales.

  18. Conversazioni autobiografiche con Albino Sacco-Casamassima

    Directory of Open Access Journals (Sweden)

    Orazio Maria Valastro

    2004-03-01

    Full Text Available Nel 1948 venne Olivetti a Matera. Olivetti venne a Matera con un certo ambasciatore americano che praticamente aveva preparato o stava dando una mano per il piano Marschall, venne a Matera e mi vollero incontrare. Io sono stato chiamato dalla piazza, stavo nella piazza, era il mese di luglio, una cosa di questo genere, e andai in un bar, un bar ad angolo mi ricordo in Via Don Minzioni, dove questo Olivetti mi disse 'ma lei che cosa fa coi sassi?' 'Che cos'è questa storia?' Gli raccontai un po' che cosa facevo io con questi amici, avevamo fatto questo, insomma tutto quello che avevamo fatto nei sassi e che volevamo preparare ancora per presentare a qualcuno un piano di revisionamento dei sassi. Mi ricordo, era la prima volta che avevo visto Adriano Olivetti, ne avevo sentito parlare però non avevo mai visto quest'uomo con gli occhi celesti, minuto, coi capelli bianchi, riccioluto, con una cravatta bianca, cosa che mi fece impressione, una specie di angelo.

  19. Procesamiento de argumentos en personas con afasia

    Directory of Open Access Journals (Sweden)

    Luis Martínez

    2012-06-01

    Full Text Available En las personas con afasia se alteran diversos procesos lingüísticos. Entre las alteraciones más comunes tenemos aquellas que se producen en el procesamiento sintáctico, lo cual es evidente en el procesamiento de los argumentos. Investigaciones previas realizadas a sujetos con afasia reflejan un procesamientodeficiente de argumentos, lo cual se hace más evidente a medida que el número de argumentos aumenta. Se ha encontrado que mientras mayor es la complejidad en la estructura de la oración, los sujetos afásicos manifiestan mayores dificultades en el procesamiento de la misma. El presente estudio indaga en las dificultades que presentan los sujetos adultos con trastornos afásicos hablantes de español en el procesamiento de argumentos durante tareas de descripción. Este trabajo corrobora la evidencia de que los sujetos con afasia manifiestan un manejo deficiente en el procesamiento de argumentos en las tareas señaladas.

  20. Coriocarcinoma con metástasis pulmonar

    Directory of Open Access Journals (Sweden)

    Vicia Sánchez Abalos

    2014-05-01

    Full Text Available Se presenta el caso clínico de una fémina de 44 años de edad, con 32 semanas de embarazo, la cual fuera ingresada en la Unidad de Cuidados Intensivos del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, por presentar insuficiencia respiratoria aguda como consecuencia de una sepsis. La paciente fue tratada con cefalosporina de tercera generación y ventilación mecánica no invasiva, pero se mantuvieron las características gasométricas de hipoxemia y una mala reacción terapéutica, por lo que se requirió instrumentación de las vías respiratorias y soporte hemodinámico, sin lograr regresión del cuadro clínico, lo cual condujo a un paro cardiorrespiratorio y, con ello, a la muerte. La necropsia mostró un coriocarcinoma del endometrio con metástasis pulmonar

  1. Con la testa fra le nuvole

    Directory of Open Access Journals (Sweden)

    André Greboge

    2015-06-01

    Full Text Available Partitura de Con la testa fra le nuvole, composta em 2015 para piano e harpa de pedais. Este memorial apresenta as notas sobre a obra e a organização do processo composicional, baseada em um insight composicional a partir da ideia de complexidade apresentada por James Tenney em Meta Meta-hodos (1988.

  2. REDUCCIÓN DE ÓXIDOSDE NITROGENO CON CATALIZADORES ZEOLÍTICOS INTERCAMBIADOS CON COBALTO

    Directory of Open Access Journals (Sweden)

    Enrique Alexis García Moya

    2012-10-01

    Full Text Available Se presenta un estudio sobre la reducción catalítica selectiva (RCS de NOx con metano en presencia de oxígeno en exceso con varios catalizadores a base de las zeolitas mordenita, ferrierita y ZSM-5 intercambiadas con diferentes cargas de cobalto y con las correspondientes zeolitas en forma acida. Cuando la mezcla reactiva contenía mayormente NO2 en lugar de NO, los catalizadores ácidos mostraron las más altas velocidades de formación de N2 en condiciones secas. Las mayores actividades se obtuvieron con los catalizadores Co-mordenita, siguiendo en orden de actividad los catalizadores Co-Ferrierita y Co-ZSM-5. El catalizador Co-Mordenita más activo se ensayó con una mezcla reactiva donde predominó el NO en lugar del NO2 bajo condiciones secas e hidrotérmicas y en presencia de SO2. Con la adición de 8% de agua a la mezcla de reacción se observó desactivación reversible, especialmente a bajas temperaturas. La adición de 60 ppm de SO2 disminuyó la velocidad de reacción aproximadamente a la mitad debido posiblemente al envenenamiento de algunos sitios activos.

  3. Manejo de conductos radiculares con curvatura marcada

    Directory of Open Access Journals (Sweden)

    Jorge Mario Nuñez Duran

    2013-10-01

    Full Text Available Las variaciones anatómicas en dientes con conductos que poseen dilaceraciones hacen del tratamiento de endodonciaun reto o una complicación relativa, en donde el clínico debe desarrollar toda su habilidad y el uso de instrumentosespeciales que faciliten u optimicen la terapia de conductos radiculares. La toma de radiografías previas con diferentesangulaciones y el estudio minucioso de ellas, darán una ayuda fundamental para conocer más detalladamente estacomplicación anatómica, que en algunos casos es muy frecuente. El uso de instrumental más flexible y resistentepermite llegar con mayor precisión y seguridad a la parte apical sin que se corra el riesgo de fracturar los instrumentos,limpiándolos y modelándolos en toda su extensión para poder obturarlos de una manera correcta.El uso de limas de menor calibre, precurvadas, permite acceder a la porción dilacerada de la raíz. Este es un métodoeficaz para prevenir la perdida de longitud de trabajo y evitar así las perforaciones de las raíces durante la preparación.Dentro de los errores más comunes durante la instrumentación de los conductos está la perdida de longitud detrabajo, junto con la transportación del foramen apical, ya sea de manera externa o interna. En el presente artículose menciona el uso de nuevas y mejores técnicas usadas para poder evitar este tipo de errores y se muestra un casoclínico del manejo de un molar superior con una curvatura de 40 grados que fue preparado y obturado exitosamentecon el sistema Protaper (Dentsply- maillefer.

  4. Variables socionutricionales de hogares mazahuas integrados por preescolares desnutridos con madres con obesidad y sin obesidad

    OpenAIRE

    Viridiana Vanessa Conzuelo-González

    2009-01-01

    El primer objetivo fue conocer cuántos menores de cinco años con diferentes grados de desnutrición tienen una madre con sobrepeso/obesidad/ en una comunidad indígena que vive en extrema pobreza y bajo condiciones de migración masculina internacional. El segundo fue comparar tres variables socionutricionales (ingreso familiar, educación de la madre y adecuación nutrimental de la dieta diaria) entre estos hogares y los hogares con desnutrición infantil y madres sin obesidad. Se realizó un estud...

  5. Terapias alternativas con animales para niños con necesidades especiales

    OpenAIRE

    Cea-Chueca, Aihnoa

    2014-01-01

    El presente trabajo de fin de grado consiste en la realización de un análisis y descripción de la literatura acerca de las distintas terapias animales, destinadas a niños con necesidades especiales: cómo y por qué surgieron, en qué consisten las terapias, cómo podemos utilizarlas, etc. Las terapias alternativas con animales se conocen como una alternativa terapéutica, donde se utiliza a un animal como co-terapeuta para poder desarrollar diferentes capacidades de los niños con necesidades espe...

  6. Variables socionutricionales de hogares mazahuas integrados por preescolares desnutridos con madres con obesidad y sin obesidad

    OpenAIRE

    Viridiana Vanessa Conzuelo-González; Ivonne Vizcarra-Bordi

    2009-01-01

    El primer objetivo fue conocer cuántos menores de cinco años con diferentes grados de desnutrición tienen una madre con sobrepeso/obesidad/ en una comunidad indígena que vive en extrema pobreza y bajo condiciones de migración masculina internacional. El segundo fue comparar tres variables socionutricionales (ingreso familiar, educación de la madre y adecuación nutrimental de la dieta diaria) entre estos hogares y los hogares con desnutrición infantil y madres sin obesidad. Se realizó un est...

  7. LA FORMACION DE LOS DOCENTES EN LA INTERVENCION CON ALUMNOS/AS CON DEFICIT DE ATENCION CON HIPERACTIVIDAD (TDAH

    Directory of Open Access Journals (Sweden)

    Francisco D. Fernández Martín

    2004-06-01

    Full Text Available La presencia del Trastorno por d.ficit de atención con hiperactividad (TDAH en algunos/as de nuestros/as alumnos/as ocasiona serios problemas para que estos/as se adapten al contexto escolar y sociofamiliar en el que se desenvuelven, debido a la presencia de una serie de dificultades: hiperactividad, dificultades para mantener la atenci.n, autorregular la conducta, controlarse, etc.

  8. Esporotricosis cutánea diseminada con compromiso articular en una mujer con diabetes tipo 2

    Directory of Open Access Journals (Sweden)

    Sendy Solorzano

    Full Text Available La esporotricosis diseminada es una presentación infrecuente de esta micosis. Aunque ha sido descrita en sujetos inmunocompetentes, con frecuencia existe compromiso de la inmunidad mediada por células T. Reportamos el caso de una mujer con diabetes tipo 2 no controlada que desarrolló esporotricosis cutánea diseminada. El curso de la enfermedad presentó varias complicaciones que incluyeron hepatitis secundaria a itraconazol y artritis de la rodilla con cultivo positivo para Sporothrix schenckii durante el tratamiento con solución saturada de ioduro de potasio. La discusión del caso incluye aspectos de la patogénesis de la esporotricosis diseminada y el manejo de la infección y sus complicaciones.

  9. Riesgo familiar total en familias con mujeres diagnosticadas con neoplasia de mama

    Directory of Open Access Journals (Sweden)

    Nancy Cecilia Charrys-Bravo

    2017-07-01

    Full Text Available Objetivo: Determinar el riesgo familiar total de las familias con mujeres diagnosticadas con cáncer de mama, que asisten a un centro de salud oncológico en la ciudad de Barranquilla. Materiales y Métodos: El estudio fue de tipo descriptivo, transversal con abordaje cuantitativo. Se utilizó el instrumento Riesgo Familiar Total RFT 5-33. El universo estuvo conformado por familias con mujeres diagnosticadas con cáncer en mama. La muestra fue de 41 familias que integraron a 154 miembros; se abordó el estudio de manera censal, y no por medio de una muestra, porque el acceso a la información de la totalidad de las familia fue viable. Resultados: Los resultados mostraron que las familias, en su mayoría, son de tipo 2. El 68 % de las pacientes categorizan sus familias como amenazadas, el 5 % como familias de alto riesgo y un 27 % de las familias con un bajo riesgo. Conclusiones: Los hallazgos encontrados en esta investigación son importantes para las familias, lo cual permitirá establecer acciones y actividades que logren orientar e implementar procesos de atención específicos con el propósito de cuidar a las familias para que se mantengan sanos en un nivel de bajo riesgo; además, desarrollar controles y seguimiento a aquellas familias que se encuentran en un riesgo alto de amenazas, mediante acciones de promoción y prevención de la enfermedad de una manera amplia. Por lo anterior, se deben emprender programas más agresivos de prevención y promoción, especialmente con las familias que asisten en busca de apoyo médico para este padecimiento; de esta forma, se podrán diagnosticar los casos de forma temprana y proceder al respectivo tratamiento.

  10. Materiales nanocumpuestos basados en LDPE relleno con nanotubos de carbono con potenciales propiedades bactericidas

    OpenAIRE

    Benigno Escribano, Erika

    2015-01-01

    En este trabajo, se ha seleccionado como material de estudio polietileno de baja densidad, LDPE, ya que es un polímero con múltiples aplicaciones en diversos campos. Se busca como objetivo principal, preparar y caracterizar nuevos materiales basados en LDPE con potenciales propiedades antibacterianas. Para ello, se van a estudiar dos posibles maneras de conseguirlo: La primera de ellas, consiste en realizar un procesado mecánico sobre el polietileno, concretamente, una molienda del alta en...

  11. Fluorescence resonance energy transfer-based real-time polymerase chain reaction method without DNA extraction for the genotyping of F5, F2, F12, MTHFR, and HFE

    Directory of Open Access Journals (Sweden)

    Martinez-Serra J

    2014-06-01

    Full Text Available Jordi Martinez-Serra,1 Juan Robles,2 Antoni Nicolàs,3 Antonio Gutierrez,1 Teresa Ros,1 Juan Carlos Amat,1 Regina Alemany,4 Oliver Vögler,4 Aina Abelló,2 Aina Noguera,2 Joan Besalduch1 1Department of Hematology, 2Department of Clinical Analysis, Hospital Universitary Son Espases, Palma de Mallorca, Spain; 3ECOGEN, Barcelona, 4Department of Cell Biology, University of the Balearic Islands, Palma de Mallorca, Spain Abstract: Blood samples are extensively used for the molecular diagnosis of many hematological diseases. The daily practice in a clinical laboratory of molecular diagnosis in hematology involves using a variety of techniques, based on the amplification of nucleic acids. Current methods for polymerase chain reaction (PCR use purified genomic DNA, mostly isolated from total peripheral blood cells or white blood cells (WBC. In this paper we describe a real-time fluorescence resonance energy transfer-based method for genotyping directly from blood cells. Our strategy is based on an initial isolation of the WBCs, allowing the removal of PCR inhibitors, such as the heme group, present in the erythrocytes. Once the erythrocytes have been lysed, in the LightCycler® 2.0 Instrument, we perform a real-time PCR followed by a melting curve analysis for different genes (Factors 2, 5, 12, MTHFR, and HFE. After testing 34 samples comparing the real-time crossing point (CP values between WBC (5×106 WBC/mL and purified DNA (20 ng/µL, the results for F5 Leiden were as follows: CP mean value for WBC was 29.26±0.566 versus purified DNA 24.79±0.56. Thus, when PCR was performed from WBC (5×106 WBC/mL instead of DNA (20 ng/µL, we observed a delay of about 4 cycles. These small differences in CP values were similar for all genes tested and did not significantly affect the subsequent analysis by melting curves. In both cases the fluorescence values were high enough, allowing a robust genotyping of all these genes without a previous DNA purification

  12. Rabdomiolisis asociada al tratamiento con valaciclovir

    Directory of Open Access Journals (Sweden)

    Héctor Enríquez Gómez

    2012-03-01

    Full Text Available La rabdomiolisis es un efecto secundario asociado a un buen número de fármacos, entre ellos los antivirales. Describimos un caso de rabdomiolisis secundaria a valaciclovir, efecto no descrito anteriormente en laliteratura, en un contexto clínico muy especial. Se trata de un varón queingresa por un golpe de calor secundario a la realización de ejercicio físicoextremo. Durante su ingreso se comienza tratamiento con valaciclovir porun herpes nasolabial, observándose en los días siguientes una marcadaelevación de las cifras de CPK que desaparece con la suspensión del mismo. Proponemos, por tanto, que ante la administración de valaciclovir ensituaciones que puedan comportar daño mitocondrial habría que realizarmonitorización estrecha de los niveles de CPK

  13. Experiencias y aprendizajes con juegos cooperativos

    Directory of Open Access Journals (Sweden)

    Evelyn Cerdas Agüero

    2013-03-01

    Full Text Available El presente trabajo tiene como objetivo presentar experiencias y aprendizajes que  han logrado algunos grupos de docentes con los que se ha trabajado por medio de talleres de juegos cooperativos para la paz. Los talleres se han facilitado desde la actividad de extensión Aula Activa: juegos cooperativos para la Educación para la Paz que se ha implementado en el  Instituto de Estudios Latinoamericanos (IDELA desde el 2006. En este trabajo  nos enfocamos en el trabajo con docentes del Ministerio de Educación Pública (MEP de Costa Rica, proceso que deja una serie de aprendizajes actitudinales, de valores, habilidades y cognocitivos.

  14. Comunicándonos con las cosas

    Directory of Open Access Journals (Sweden)

    Miguel Delgado

    2009-09-01

    Full Text Available Tras la Web 2.0 y gracias a la colaboración entre las personas, Internet sigue creciendo y evolucionando, pero esta vez a través de los objetos. La siguiente evolución pretende que las personas puedan interactuar con las cosas de una forma inteligente mediante tecnologías ampliamente utilizadas como el teléfono móvil e Internet, y tecnologías que permitan etiquetar objetos.

  15. Bacteriemia en pacientes internados con celulitis

    Directory of Open Access Journals (Sweden)

    Juan S. Lasa

    2012-08-01

    Full Text Available La celulitis es una inflamación aguda de la dermis y tejido celular subcutáneo de causa bacteriana, que generalmente complica a heridas, úlceras y dermatosis, aunque de manera frecuente no existe sitio de entrada. Se recomienda la realización de cultivo de punción de piel y partes blandas (PPB. Los hemocultivos raramente dan resultados positivos. El objetivo de este trabajo fue determinar la prevalencia de bacteriemia en pacientes internados en nuestra institución con diagnóstico de celulitis. Se analizaron retrospectivamente los registros clínicos de los pacientes con este diagnóstico al ingreso entre junio de 2007 y marzo de 2010. Se evaluaron los datos poblacionales, presencia de comorbilidades, y resultados de los cultivos. En ese período, se internaron 140 pacientes con diagnóstico de celulitis y a todos ellos se les realizó hemocultivo y cultivos de PPB. Setenta y cuatro eran varones (52.8%. La edad promedio: 47.5 ± 19.7 años (rango 16-94. El 40% tuvo cultivos positivos de PPB, en los que el Staphylococcus aureus meticilino resistente (SAMR fue el germen más frecuentemente aislado (35.7%; la prevalencia de bacteriemia fue del 8.6%, en donde el germen más frecuente fue Streptoccocus Beta hemolítico, grupo G (33% del total de hemocultivos positivos. La bacteriemia se asoció significativamente a mayor estadía hospitalaria (10.5 ± 8.9 vs. 4.9 ± 6, p = 0.004. Se asoció con mayor riesgo de hemocultivo positivo a ser diabético, tener cultivo de PPB positivo, consumo de alcohol y/o enfermedad pulmonar obstructiva crónica.

  16. ORIENTACIONES CURRICULARES CON EL ENFOQUE CTS

    Directory of Open Access Journals (Sweden)

    Miguel Corchuelo

    2010-11-01

    Full Text Available Considerando que el propósito de la educación con un enfoque CTS propende por abordar problemas contextualizados socialmente, se busca construir una propuesta desde la práctica, con el fi n de fortalecer la formación para la participación ciudadana. Encontramos que abordar el tratamiento de las relaciones entre deporte, nutrición humana y motricidad convierte al cuerpo humano en un objeto de estudio vigente. En la ciudad de Popayán (Cauca, Colombia se vive una de las más altas tasas de bulimia y anorexia en adolescentes del país, al igual que de consumo de drogas ilícitas. Además, el bajo rendimiento de los deportistas caucanos en los últimos Juegos Nacionales, los casos de dopaje en atletas olímpicos, entre otros, abre interrogantes sobre la formación integral de nuestros estudiantes. Con el fi n de acercar la escuela a estas problemáticas locales y nacionales, se asume un trabajo interdisciplinario basado en la resolución de problemas socialmente relevantes. En esta oportunidad compartiremos los resultados del camino recorrido en torno a la pregunta: “El deporte: ¿emancipación o alienación?”.

  17. Aprendiendo química con golosinas

    Directory of Open Access Journals (Sweden)

    José Manuel Rodríguez Rodríguez

    2011-01-01

    Full Text Available Las golosinas (caramelos, chicles, nubes, palotes, papas fritas, etc. nos gustan a casi todos y gozan de una imagen positiva, a pesar de sus efectos secundarios si no se consumen con moderación. Aprovechándonos de esa buena imagen y de la gran variedad de golosinas que existen en el mercado, hemos diseñado una serie de experimentos con los que podemos explicar distintos tipos de reacciones químicas (ácido-base, oxidación reducción, endotérmicas¿, la actuación de un indicador e, incluso, podemos comparar cantidades de vitamina C. En todas las actividades se persigue explicar algún aspecto de la Química que, en general, el público desconoce, captando su atención, por ejemplo, mediante cambios de color espectaculares y con las golosinas como protagonistas. Así mismo, estas experiencias pueden emplearse como recursos didácticos para alumnos de 4º E.S.O. y Bachillerato, apoyando los contenidos teóricos del currículum.

  18. Calidad de vida, satisfacción con el tratamiento y bienestar emocional en pacientes con diabetes LADA

    OpenAIRE

    Granado Casas, Minerva

    2014-01-01

    Introducción: La calidad de vida, satisfacción con el tratamiento y bienestar emocional en pacientes con diabetes mellitus están relacionados con el control metabólico, las complicaciones y algunas variables socioeconómicas. Actualmente, no existe ningún estudio científico que analice la calidad de vida, satisfacción con el tratamiento y bienestar emocional en pacientes con diabetes LADA. Objetivos: Los objetivos principales fueron conocer la calidad de vida, satisfacción con el tratamient...

  19. "Sonríe con salud"

    Directory of Open Access Journals (Sweden)

    Rosa María González Ramos

    Full Text Available Introducción: los programas educativos juegan un papel importante ya que permiten modificar hábitos y conductas perjudiciales para la salud. Las personas de la tercera edad deben adquirir los conocimientos necesarios para realizar el auto cuidado de la salud bucal mejorando así su calidad de vida. Objetivo: evaluar los resultados del programa "Sonríe con salud". Métodos: se realizó una investigación descriptiva de corte transversal, con un universo de 74 personas de 60 años y más. Las variables estudiadas fueron: la edad, sexo. Se aplicó una encuesta. Las respuestas se agruparon atendiendo a si poseían o no, conocimientos acerca de la relación entre salud bucal y salud general, las principales enfermedades buco-dentales, realización del autoexamen bucal, efecto del tabaquismo y alcoholismo, ingestión de los alimentos azucarados, calientes, picantes y la importancia de la higiene bucal. La recolección de la información, la realizaron los autores empleando como fuente primaria el cuestionario aplicado en la primera etapa de la investigación. Se utilizaron los valores absolutos y el porcentaje en el análisis de los resultados. Resultados: el grupo de edad de 70 a 79 años fueron los más representados (36,5 % y el sexo femenino con un 59,5 %. Se elevaron los conocimientos relacionados con el efecto perjudicial del alcoholismo al 91,9 % y el tabaquismo al 95,9 %; acerca de la ingestión de alimentos azucarados se elevan al 97,7 % al igual que los alimentos calientes y picantes en un 90,5 %, relativo al autoexamen bucal se superan los conocimientos de su realización al 78,4 % y referente a la higiene bucal se elevan al 91,9 %. Conclusiones: el programa educativo "sonríe con salud" resultó eficaz, al elevar el nivel de conocimientos de los ancianos que recibieron las actividades previstas en el programa.

  20. Acogida de los solicitantes de asilo con discapacidad en Europa

    OpenAIRE

    Beduschi-Ortiz, Ana

    2010-01-01

    Con respecto a la acogida de los solicitantes de asilo en la Unión Europea, podemos encontrar disposiciones para la protección de las personas con discapacidad en una amplia gama de fuentes reguladoras.

  1. Bacterias con alta tasa de mutación: los riesgos de una vida acelerada High mutation rate bacteria: Risks of a high-speed life

    Directory of Open Access Journals (Sweden)

    JUAN CARLOS GALÁN

    2006-03-01

    Full Text Available El proceso evolutivo de un ser vivo se acelera cuanto mayor sea su capacidad para producir variabilidad genética, bien por mutación, bien por recombinación. Sin embargo, cuanto mayor sea esta capacidad, mayor también será el riesgo de acumular mutaciones del etéreas. La variabilidad genética es, por tanto, un proceso altamente regulado, de tal manera que las bacterias tienden a mantener una baja tasa de mutación. En diferentes poblaciones bacterianas analizadas hay siempre un porcentaje variable de cepas con una tasa de mutación superior a la frecuencia modal del resto de la población. Existe una relación directa entre la proporción de cepas que mutan y el grado de estrés del ambiente. Así, en los procesos infecciosos crónicos, en los que el tratamiento antibiótico es constante durante períodos prolongados, se observan los mayores porcentajes de bacterias que mutan, cercano al 50% de la población. Esta selección positiva de bacterias que mutan es debida al enorme potencial que presentan para desarrollar resistencia antibiótica (100 veces superior a una bacteria normal. Esta capacidad ha sido explotada, en algunos centros de investigación, como un modelo natural de evolución acelerada para predecir la facilidad con la que determinadas variantes resistentes pueden aparecer, saber qué posiciones serán las más susceptibles a los cambios y cuál será el costo para la bacteria. El laboratorio de microbiología debe hacer un esfuerzo por detectar estas cepas mutadoras antes de que desarrollen mecanismos de resistencia e induzcan el fracaso terapéutico.The potential of producing genetic variability, either by mutation or by recombination, is the driving force of evolution in a living organism. Genetic variability is a quite regulated process in which bacteria tend to maintain a low mutation rate. However, a variable proportion of bacteria with a higher mutation rate than that of the modal is always present in any population

  2. Factores asociados con la irregularidad de la ingesta de Dapsona en pacientes con lepra: Dapsona en pacientes con lepra

    Directory of Open Access Journals (Sweden)

    Luis Carlos Orozco Vargas

    2013-04-01

    Full Text Available Introducción: Conocer los factores asociados al cumplimiento del tratamiento en pacientes con lepra, es muy importante para prevenir la resistencia del Mycobacterium leprae y garantizar la cura bacteriológica de estas personas. La prueba de orina para Dapsona, presente en el régimen autoadministrado, es un método sencillo para establecer la regularidad del tratamiento. Objetivo: Explorar los factores asociados a la irregularidad de la ingesta del tratamiento antileproso. Métodos: Estudio de corte transversal de los enfermos que recibieron tratamiento antileproso en un centro dermatológico. La irregularidad se estableció con la prueba de dapsonuria. Se consideró irregular el que presentó la prueba negativa. Las variables sospechosas de influir en la irregularidad se analizaron con regresión logística exacta. Resultados: En el modelo final del análisis multivariado se encontraron cinco variables asociadas, entre éstas sobresalen como factores de riesgo, la ausencia de discapacidad, OR 28.56 (IC90% 1.2-2.1 y la entrega de tratamiento para tiempos mayores a un mes, por cada mes OR 3.41 (IC90% 1.4-9.2 y como factor protector, la aceptación familiar de la enfermedad OR 0.008 (IC90% 0.001-0.24. Conclusión: Aunque es posible que el pequeño tamaño de muestra no haya permitido detectar algunos factores de riesgo informados en otras investigaciones, la mayoría de esos estudios no han realizado análisis multivariado por lo cual es posible que muchos de los factores informados en la literatura no tengan importancia. Salud UIS 2013; 45 (1: 7-14

  3. 9 CFR 319.301 - Chili con carne with beans.

    Science.gov (United States)

    2010-01-01

    ... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Chili con carne with beans. 319.301 Section 319.301 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE... Dehydrated Meat Food Products § 319.301 Chili con carne with beans. Chili con carne with beans shall contain...

  4. Insuficiencia renal aguda relacionada con medicamentos en pacientes hospitalizados

    Directory of Open Access Journals (Sweden)

    Lujan Iavecchia

    2015-11-01

    Conclusiones: La mitad de los episodios de IRA intrahospitalaria se relacionaron con medicamentos. Los pacientes con IRA relacionada con medicamentos presentaron más antecedentes patológicos cardiovasculares, pero menos factores de riesgo de IRA y una menor mortalidad.

  5. Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxiatelangiectasia

    Directory of Open Access Journals (Sweden)

    Eduardo Augusto Gálvez-Cuitiva

    2015-11-01

    días. Se suspendió la quimioterapia porque desarrolló choque séptico que puso en riesgo su vida. Por su enfermedad de base permaneció bajo vigilancia. Actualmente, 17 meses después, la paciente vive sin actividad tumoral.  Conclusión: existe asociación entre ataxia-telangiectasia, leucemia y linfomas. Se describe el caso clínico de una paciente con ataxia-telangiectasia y tumor germinal mixto con componente de disgerminoma y coriocarcinoma de ovario. Se propone establecer un tratamiento especial para estos pacientes inmunocomprometidos, con alto riesgo de cáncer pero, a la vez, de no tolerar los esquemas habituales.

  6. Tratamiento de la obesidad con productos naturales

    Directory of Open Access Journals (Sweden)

    Lina Neri Espinosa Pire

    2016-12-01

    Full Text Available Los crecientes índices de obesidad alrededor del mundo, provocados principalmente por los excesos en la ingesta y la vida sedentaria, constituye uno de los grandes problemas de salud pública en nuestras sociedades. Entre otras formas como dietas y tratamientos que surgen cada día para combatir la obesidad, el uso de plantas medicinales conocido como fitoterapia, ha despertado gran interés. Existen ciertas plantas que poseen propiedades adelgazantes, sin embargo, lo mejor es ponerse en manos de especialistas en este campo, para recibir una correcta asesoría de acuerdo a las necesidades personales. Las plantas medicinales y los productos que de ellas se obtienen, constituyen remedios eficaces para combatir la obesidad, pues no tienen efectos adversos. No obstante el tratamiento debe combinarse con un cambio de hábitos alimentarios y actividad física y no conviene utilizarlos irresponsablemente, pues no todos tienen los mismos beneficios y efectos. La eficacia de la aplicación de plantas con la finalidad de bajar de peso ha sido comprobada en numerosos ensayos clínicos que se han realizado con determinadas especies vegetales. Las plantas medicinales se han utilizado tradicionalmente en forma de infusión, sin embargo esta forma de administración no permite controlar efectivamente las dosis administradas, por lo que es preferible hacerlo en preparados como cápsulas o comprimidos. Cada planta deberá administrarse de una manera específica y es importante que los preparados se tomen siempre en el mismo horario para potenciar su efectividad.

  7. Factores prenatales relacionados con la prematuridad

    Directory of Open Access Journals (Sweden)

    Guillermo Arias Macías

    2001-03-01

    Full Text Available Se estudiaron 130 madres y sus recién nacidos prematuros con su correspondiente grupo control, nacidos en el Hospital Ginecoobstétrico Provincial Docente "Justo Legón Padilla", de Pinar del Río, desde febrero hasta julio de 1998, con el objetivo de analizar algunos factores perinatales relacionados con la prematuridad. Se analizaron las variables: edad materna, paridad, peso al inicio del embarazo, talla materna, período intergenésico, edad gestacional, oligoamnios, hipertensión arterial materna y sexo del niño. Se demostró que la edad materna inferior a 17 años, la baja talla materna, el oligoamnio, la sepsis ovular y el período intergenésico de más de 5 años tuvieron resultados significativos para el nacimiento de pretérminos.130 mothers and their premature infants with their corresponding control group delivered at "Justo Legón Padilla" Provincial Gynecoobstetric Teaching Hospital, in Pinar del Río, from February to July, 1998, were studied aimed at analyzing some perinatal factors connected with prematurity. The following variables were analyzed: maternal age, parity, weight at the beginning of pregnancy, maternal height, intergenesic period, gestational age, oligohydramnios, maternal hypertension and sex of the child. It was proved that maternal age under 17, low maternal height, the oligohydramnios, vulvar sepsis and the intergenesic period of more than 5 years had significant results for the birth of preterm infants.

  8. Rescate articular con colgajo anterolateral del muslo

    Directory of Open Access Journals (Sweden)

    F.J. García-Bernal

    2015-06-01

    Full Text Available La preservación del nivel de amputación tanto de la extremidad superior como de la inferior, puede mejorar la función residual y el proceso de rehabilitación protésica de la misma. Ambas van a estar condicionadas por la longitud restante de la extremidad, la presencia o no de articulaciones operativas y la calidad de la cobertura del muñón. Presentamos 2 casos de amputaciones. El primero es un caso agudo de amputación traumática de extremidad superior a la altura del tercio proximal de antebrazo, que asocia avulsión cutánea circular desde el tercio medio del brazo y con articulación de codo conservada. El segundo, es la secuela de una amputación infracondílea de extremidad inferior por osteosarcoma que presenta fístulas cutáneas con drenaje supurativo por osteomielitis en el muñón tibial. En ambos pacientes realizamos cobertura con colgajo anterolateral de muslo anastomosado a la arteria radial en el caso de la extremidad superior, y a la arteria genicular descendente en la extremidad inferior. En los dos casos el postoperatorio transcurrió sin complicaciones, logrando preservar las articulaciones del codo y de la rodilla respectivamente, así como la posterior rehabilitación protésica. Consideramos que el colgajo anterolateral del muslo permite aportar tejido de buena calidad como cobertura del muñón de amputación. Dadas las características del tejido aportado y su volumen, es idóneo tanto para cobertura de defectos agudos como de déficits de almohadillado en casos crónicos.

  9. Proyecto innovador: “con+ciencia”

    OpenAIRE

    Fernández Arroyo, Jorge; Rodríguez Marín, Fátima; González Medina, Sara

    2013-01-01

    En esta comunicación se expone la experiencia de observación sobre el funcionamiento del proyecto Con+ciencia en los cursos de 5º y 6º de Primaria (tercer ciclo) del centro C.E.I.P. “Príncipe de Asturias” (Sevilla) durante el mes de marzo del 2013. Nuestra participación ha buscado conocer en profundidad este proyecto, observar su aplicación real en el aula y sus implicaciones en el alumnado y el profesorado.

  10. Riego subsuperficial con aguas residuales tratadas

    OpenAIRE

    Crespi, Raúl; Camacho, Emilio; Polo, María José

    2009-01-01

    La reutilización de aguas residuales tratadas para riego por goteo subsuperficial (RGS) de cultivos extensivos, es una práctica reconocida mundialmente, siendo la obturación de emisores un serio problema en la operación de estos sistemas. Durante el ciclo agrícola 2002/03, se realizó un ensayo experimental usando dos tipos de agua: limpia (AL) y residual tratada (AR) en un sistema mixto combinando un reactor biológico con laguna de maduración y tres tipos de protectores del emisor: micro dosi...

  11. Biorremediacion de suelos contaminados con hidrocarburos

    OpenAIRE

    Ortiz, E.; Núñez, R.; Fonseca, E.; Oramas, J.; Almazán, V.; Cabranes, Y.; Miranda, A.; Barbán, O.; Martínez, C.; Díaz, Y.; Borges, G.

    2005-01-01

    En la actualidad los suelos contaminados con hidrocarburos representan el 70% del total de los eco-sistemas impactados. A partir del aislamiento, selección y conservación de bacterias marinas degra-dadoras de hidrocarburos y productoras de sustancias tensioactivas se formuló un producto denomi-nado BIOIL-FC. Este producto ha sido aplicado satisfactoriamente en derrames de hidrocarburos en el mar. En el presente trabajo fue evaluada la factibilidad del uso de los procesos de biorremediación “e...

  12. Los juegos de Borges con el tiempo

    Directory of Open Access Journals (Sweden)

    Paulína Šišmišová

    2012-12-01

    Full Text Available La preocupación por el tiempo es una de las constantes de la obra del escritor argentino Jorge Luis Borges. Los «juegos con el tiempo» forman parte indispensable de sus estrategias narrativas, tal como lo documenta también su célebre cuento «Borges y yo». En nuestra contribución nos dedicaremos a estudiar la problemática del tiempo en Borges bajo dos aspectos: el tiempo como recurso de configuración del texto narrativo y el tiempo como categoria metafísica.

  13. Tratamiento de aguas contaminadas con cianuro

    OpenAIRE

    Aguilar Roca, Fernando; Aguilar Roca, Fernando; Aguilar Roca, Fernando

    2011-01-01

    El presente trabajo “Tratamiento de aguas contaminadas con cianuro" se divide en tres partes: química del contaminante, procesos de descontaminación estudiados y un procedimiento basado en una investigación reciente. Principales propiedades físico-químicas del ion cianuro y de sus principales compuestos, cianuros simples o complejos, en medio acuoso. Métodos y procesos que existen para la descontaminación de efluentes cianurados, tanto los que se dan de forma natural (degradación natu...

  14. Las personas con discapacidad en el cine

    OpenAIRE

    Monjas, M.I.; et al.

    2005-01-01

    Una forma de comprobar cómo se conceptualiza a las personas con discapacidad es analizar la imagen que de ellas se refleja en distintos soportes como pueden ser libros, prensa y medios de comunicación. El presente trabajo se centra en el estudio de películas cuyos protagonistas tienen alguna discapacidad. A tal efecto, y después de revisar una parte de la producción cinematográfica, se han seleccionado cincuenta películas para proceder a su análisis. Los resultados obtenidos evidencian la esc...

  15. Estudio de viabilidad de cajones marítimos con hormigón con fibras

    OpenAIRE

    Ramos Marquès, Òscar Gonçal

    2017-01-01

    En este TFM se estudia la viabilidad de sustituir la armadura pasiva por fibras metálicas o plásticas en cajones para obras portuarias. Para ello, en primer lugar, se estudia el procedimiento constructivo de un cajón y las propiedades de los hormigones con fibras. Una vez analizado el estado del conocimiento se procede a escoger un cajón representativo, ya construido con armadura pasiva. El cajón escogido es el cajón tipo 3 del dique est...

  16. Pulpotomía con electrocauterio en pacientes con hemofilia A

    OpenAIRE

    Carbonell Rodriguez, Rosario

    2017-01-01

    Rehabilita la salud oral de un niños con Hemofilia A, empleando el Electrocauterio como una alternativa en la terapia pulpar, específicamente en la pulpotomía, para lo cual se realiza un minucioso examen clínico y anamnesis, que respaldados con exámenes complementarios, permite determinar el plan de tratamiento. La rehabilitación integral se llevó a cabo, previo consentimiento informado del padre, en sala de operaciones bajo anestesia general, debido a la condición sistémica del niño. Incl...

  17. SATISFACCIÓN CON EL TRATAMIENTO EN PACIENTES DE ATENCIÓN PRIMARIA CON ARTROSIS

    Directory of Open Access Journals (Sweden)

    Carmen Llanos Val Jiménez

    2017-01-01

    Full Text Available Fundamentos: Al igual que en otros problemas crónicos, en el abor - daje del paciente con artrosis se tiende a un modelo de toma de decisiones compartidas, en el que el punto de vista del paciente debe ser considerado en la elección del tratamiento. El objetivo de este trabajo fue evaluar la sa - tisfacción con el tratamiento en pacientes diagnosticados de osteoartrosis y comprobar si existen diferencias entre diferentes opciones farmacológicas, así como determinar si existe asociación con el estado funcional y las carac - terísticas clínicas y sociodemográficas. Métodos: Se realizó un estudio observacional transversal en una muestra de 487 pacientes seleccionados mediante muestreo consecutivo. La variable principal fue el nivel de satisfacción con el tratamiento (cuestionario ARTS. El estado funcional de los pacientes fue evaluado mediante la escala WO - MAC. Otras variables fueron: características del tratamiento, adherencia te - rapéutica, eventos adversos, y variables clínicas y sociodemográficas. Resultados: En el cuestionario ARTS los pacientes, en un rango entre 28 y 87, obtuvieron una puntuación media de 65,3 (DE: 9,9. La puntuación no fue significativamente diferente en consumidores de 1, 2 o más fármacos. Entre quienes consumían un solo fármaco, no hubo diferencias entre los di - ferentes tipos de fármacos. En el estado funcional se obtuvo una puntuación media de 30,2 puntos (DE: 20,8 y se observó una débil correlación negativa con el nivel de satisfacción (r= - 0,252; p<0,001. Mediante regresión lineal múltiple, se observó mayor puntuación en la escala ARTS (p<0,05 en pa - cientes con menor puntuación en la escala WOMAC, mayor edad y ausencia de eventos adversos. Conclusión : En pacientes con osteoartritis se observa un nivel mode - rado de satisfacción con el tratamiento farmacológico, condicionado por su situación funcional, sus características sociodemográficas y por la presencia de eventos

  18. Síndrome disejecutivo en personas con dependencia alcohólica con/sin recidivas

    OpenAIRE

    Fidalgo Martínez, Eva

    2015-01-01

    [ES]En la mayoría de las culturas el alcohol es el depresor del SNC utilizado con más frecuencia y el responsable de una morbilidad y una mortalidad considerables. En la actualidad, el consumo de bebidas alcohólicas constituye un importante problema de salud pública, especialmente en España, que es uno de los países con mayor consumo de alcohol por habitante y año. El objetivo general del estudio es determinar la existencia de diferencias significativas entre dos grupos clínicos de sujetos...

  19. Intervención con menores con adicciones desde Proyecto Hombre

    OpenAIRE

    Pardo-Esteban, Belén; Escalza-González, Amaia

    2015-01-01

    En el citado seminario informaremos del programa de atención y prevención de las toxicomanías y otras adicciones, llevado a cabo por la Asociación Proyecto hombre. A continuación, trataremos la formación en adicciones y toxicomanía con los estudiantes, mediante charla, cuestionarios sobre conocimientos básicos en prevención de toxicomanía en menores y los diferentes programas de intervención posibles aducados a los perfiles de los usuarios. Terminaremos con un debate sobre los temas tra...

  20. Experimentos en Antioquia con Fertilizantes para Papa.

    Directory of Open Access Journals (Sweden)

    Yepes Y. Emilio

    1949-03-01

    Full Text Available Con el fin de determinar la adecuada aplicación de cal. y la economía de la adición de Nitrógeno, Fósforo y Potasio, se realizaron varios experimentos de fertilizantes para papa en dos regiones productoras de Antioquia. Los experimentos se realizaron por el sistema de "Parcelas divididas y del análisis estadístico de los resultados pueden sacarse las siguientes conclusiones: 1. Es notable la deficiencia de Fósforo en ambos suelos, y hubo respuesta significativa a una aplicación de 120 kilos por hectárea. 2. Los suelos responden a una aplicación moderada de Nitrógeno y Potasio, pero puede lograrse una economía importante en las cantidades de estos elementos. 3. Parece que la aplicación de dos toneladas de cal por cuadra es suficiente, y no hay razón para aconsejar cantidades mayores. 4. Los resultados obtenidos demuestran que sí es posible la experimentación con fertilizante para papa, y sería de desear que se ampliara la experimentación en las demás regiones productoras.

  1. Polimiositis con incapacidad ventilatoria e insuficiencia respiratoria

    Directory of Open Access Journals (Sweden)

    O. Lopez Gaston

    2003-10-01

    Full Text Available Las miopatías inflamatorias son un grupo de enfermedades caracterizadas por debilidad muscular proximal y las causas mayores incluyen la polimiositis (PM, dermatomiositis y miositis por cuerpos de inclusión. Las complicaciones respiratorias son comunes y adquieren importancia por la incidencia sobre el pronóstico. Las tres formas de compromiso frecuentes son la enfermedad pulmonar intersticial, la neumopatía aspirativa y la incapacidad ventilatoria (IV por debilidad de los músculos respiratorios, que en su forma severa es de ocurrencia excepcional. Se presenta una paciente con IV sin compromiso del parénquima pulmonar, que requirió asistencia respiratoria mecánica por 4 meses con «destete» exitoso.The inflammatory diseases of muscle are a group of disorders characterized by proximal muscle weakness. Most cases fall into three major diagnostic categories, polymyositis (PM, dermatomyositis and inclusion body myositis. Respiratory complications are a common feature and are an important cause of morbidity and mortality. The three main types of pulmonary involvement are interstitial lung disease, aspiration pneumonia and ventilatory incapacity (VI due to muscle weakness. There are few reported cases in which mechanical ventilation has been used in patients with PM and VI in absense of lung disease. We present a patient with PM and VI due to muscle weakness who underwent therapy maintenance with mechanical ventilator and was weaned 4 months later.

  2. Optimización con Solver

    Directory of Open Access Journals (Sweden)

    Sánchez Álvarez , I.

    1998-01-01

    Full Text Available La relevancia de los problemas de optimización en el mundo empresarial ha generado la introducción de herramientas de optimización cada vez más sofisticadas en las últimas versiones de las hojas de cálculo de utilización generalizada. Estas utilidades, conocidas habitualmente como «solvers», constituyen una alternativa a los programas especializados de optimización cuando no se trata de problemas de gran escala, presentado la ventaja de su facilidad de uso y de comunicación con el usuario final. Frontline Systems Inc es la empresa que desarrolla el «solver» de Excel, si bien existen asimismo versiones para Lotus y Quattro Pro con ligeras diferencias de uso. En su dirección de internet (www.frontsys.com se puede obtener información técnica sobre las diferentes versiones de dicha utilidad y diversos aspectos operativos del programa, algunos de los cuales se comentan en este trabajo.

  3. con enfermedad crónica

    Directory of Open Access Journals (Sweden)

    María del Refugio Zavala Rodríguez

    2007-01-01

    Full Text Available El propósito del estudio fue determinar el grado de correlación entre los niveles de fortaleza para la salud y de ansiedad-rasgo, en unamuestra de 200 pacientes integrada por medio de muestreo no probabilístico; los criterios de inclusión fueron: adultos de ambos génerosdiagnosticados con enfermedad crónica, con estudios de enseñanza básica y orientada. El marco teórico que guió la investigación es elModelo de Adaptación de Roy. El diseño fue descriptivo, transversal, correlacional. Se utilizó el cuestionario de fortaleza de S. Pollock y laescala de autoevaluación de ansiedad-rasgo de Spielberger; los instrumentos presentaron una consistencia interna aceptable con unAlpha de Cronbach de ,852 y ,813 respectivamente. La información se recabó de cuatro instituciones de salud ubicadas en los municipiosde Tampico-Cd. Madero Tamaulipas, México. El análisis de los datos se efectuó mediante estadística descriptiva e inferencial, se utilizó elpaquete estadístico SPSS versión 13. El rango de edad que predominó fue de 45 a 64 años (54%; el 55% fue del sexo femenino, el 48%cuenta con estudios de primaria, cerca del 90% padece de una enfermedad metabólica. El coeficiente de correlación de Spearman entrela fortaleza para la salud y la ansiedad-rasgo fue significativo (Œ,570, valor Œp,000. En la mayoría de la población participante se encontróun nivel moderado tanto de fortaleza (83% como de ansiedad (73%. El análisis de regresión múltiple indicó que la relación significativaentre estas dos variables no es afectada por la edad, el género o los años de evolución de la enfermedad crónica. Los datos de este estudiomuestran evidencia de que en los pacientes con enfermedades crónicas a mayor nivel de fortaleza menor nivel de ansiedad-rasgo. Estasituación invita a desarrollar más estudios de estos fenómenos, en la disciplina de enfermería, que sirvan como sustento teórico-prácticopara el diseño o la mejora de

  4. Risk factors for development of dementia in a unique six-year cohort study. I. An exploratory, pilot study of involvement of the E4 allele of apolipoprotein E, mutations of the hemochromatosis-HFE gene, type 2 diabetes, and stroke.

    Science.gov (United States)

    Percy, Maire; Somerville, Martin J; Hicks, Mark; Garcia, Angeles; Colelli, Teresa; Wright, Emily; Kitaygorodsky, Julia; Jiang, Amy; Ho, Valerie; Parpia, Alyssa; Wong, Michael K

    2014-01-01

    Risk factors for dementia development are not well-defined. We evaluated several factors alone and in combination in a unique cohort of Caucasian volunteers over an approximately 6-year observation window using a nested case/control design. Factors included: apolipoprotein E (ApoE) gene variants (the E4 allele is the strongest confirmed genetic predisposing factor for Alzheimer's disease), the hemochromatosis-HFE gene mutations (H63D and C282Y), diabetes, and stroke. At study entry, subjects were ≥65 years of age (M ± SD = 73.0 ± 4.9), had an MMSE score ≥24, and no evidence of cerebrovascular disease or current depression. Genotyping was completed on 163 available DNA samples from three different groups at the study end: those who still had normal cognitive function; those who had developed dementia; and those with Mild Cognitive Impairment (MCI). Analyses were interpreted at the 95% confidence level without Bonferroni corrections. In the subgroup with dementia, all cases of diabetes were type 2 and present at study entry, whereas all strokes occurred during the study. The results highlight apparently synergistic interactions between genetic and medical risk factors for dementia development, gender differences in risk factors, and involvement of HFE mutations. Having E4 (i.e., either of E3/4 or E4/4), C282Y, H63D, diabetes, or stroke alone did not attain significance. Significant predisposing factors with post-hoc power ≥80% were: E4 homozygosity (E4/4)males+females, odds ratio (OR) = 56.0); E4+diabetes (males+females, OR = 13.7; E4+H63D+diabetes (females, OR = 52.0); E4+stroke (males, OR = 46.5). The importance of preventing diabetes and stroke to ward off dementia and the possible role of iron dysmetabolism in dementia are discussed.

  5. Estudio de la expresión y función del receptor de IFN y ?en pacientes con manifestaciones atípicas en infecciones por gérmenes intracelulares

    Directory of Open Access Journals (Sweden)

    Pablo Javier Patiño Grajales

    2000-02-01

    DNA (SSCP para detectar posibles mutaciones. En un paciente se observó que el amplicón del exón dos presentaba un patrón electroforético diferente. Los productos con mobilidad alterada se secuenciarán con el método de incorporación de dideoxinucleotidos, para determinar el tipo de mutación. Adicionalmente se determinará el patrón de citoquinas que producen las células mononucleares de sangre periférica de estos individuos a mitógenos y antígenos de memoria.

     

  6. Reducción de color con cloruro de magnesio en soluciones con colorantes comerciales

    Directory of Open Access Journals (Sweden)

    Mercedes Lucero Chávez

    2017-01-01

    Full Text Available Se experimentó con diferentes concentraciones de cloruro de magnesio (MgCl2 como coagulante para reducir el color en soluciones con colorantes comerciales: negro, azul y café. Los parámetros analizados fueron pH, color, demanda química de oxígeno ( dqo y sólidos suspendidos totales (sst de acuerdo con las Normas Mexicanas. Como prueba complementaria se agregó carbón activado a las muestras para reducir el color residual después de la coagulación-floculación. La reducción de los valores de color y dqo fue mayor cuando se adicionó más cantidad de MgCl2 (1.8 g/L. Los porcentajes de reducción fueron ≥90% para el color y >50% para la dqo. Los sst aumentaron con la adición de MgCl2. El carbón activado eliminó el color residual.

  7. Queratitis ulcerativa periférica bilateral en paciente con artritis reumatoide: tratamiento con infliximab

    Directory of Open Access Journals (Sweden)

    Vicente Aldasoro-Cáceres

    2017-01-01

    Discusión: La PUK es una enfermedad rara, pero a tener en cuenta en los pacientes con AR. En la mayoría de los casos, el tratamiento de fondo debe ser intensificado; en este sentido deben considerarse los tratamientos biológicos por su eficacia y efecto rápido de acción.

  8. ESTUDIO DE LA DIGESTION HUMANA CON ALUMNOS CON DIFICULTADES DE APRENDIZAJE

    Directory of Open Access Journals (Sweden)

    Mª Begoña Carretero Gómez

    2009-01-01

    Full Text Available En esta experiencia se han seleccionado una serie de actividades relacionadas con la digestión con el fin de lograr una reestructuración de ideas y cambios conceptuales, y así con la conseguir que el alumnado aprenda a construir sus propios conocimientos acerca de cómo y donde se dan los procesos de digestión necesarios para la nutrición del organismo. El trabajo se ha llevado a cabo con alumnos de 3º de Educación Secundaria Obligatoria, pertenecientesal programa de diversificación curricular. Hemos querido hacer la ciencia más cercana para que comprendan que algunos procesos tienen su explicación científica y que la ciencia forma parte de nuestro día a día, fomentando el interés del estudiante así como su implicación en el proceso de enseñanza-aprendizaje. Por ello hemos trabajado a base de pequeñas investigaciones, donde es el alumno el que marca su ritmo de trabajo, investiga y hace sus aportaciones. Han aprendido a trabajar de una forma meticulosa donde el rigor esfundamental, contagiándose del afán investigador de manera que al realizar las experiencias se han aproximado al trabajo científico a la vez que aclaran y reestructuran conocimientos.

  9. FORTIFICACIÓN DE PULPA DE UCHUVA CON CALCIO, OLIGOFRUCTOSA Y VITAMINA C, ESTABILIZADA CON HIDROCOLOIDE

    Directory of Open Access Journals (Sweden)

    ALBA LUCIA DUQUE

    2014-06-01

    Full Text Available La pulpa de uchuva fortificada con calcio, oligofructosa y vitamina C es un alimento funcional con grandes beneficios para la salud. Para ello se le adicionó componentes biológicamente activos, como ácidos grasos, fibra alimentaria y antioxidantes. En este trabajo se estudió la estabilidad de la pulpa enriquecida en diferentes formulaciones, teniendo en cuenta los criterios de incorporación de calcio y vitamina C (20% del valor diario recomendado VDR y para la oligofructosa (fibra dietaría en relación 1:1 con el calcio. Los resultados obtenidos mostraron que la pulpa de uchuva fortificada con CMC, ologofructosa, calcio y vitamina C presentó en promedio una estabilidad de 87,7±10,0; una viscosidad de 22,8±7,9; una aw de 0,9863±0; pH de 3,3±0,1; acidez de 1,6±0,1; grados Brix de 13,3±0,7; una densidad de 1,32±0 g/mL y las mejores respuestas sensoriales en cuanto a color, aroma, fluidez y sabor.

  10. Terapia regenerativa con plasma rico en plaquetas en pacientes con quemaduras

    Directory of Open Access Journals (Sweden)

    María del Carmen Franco Mora

    2015-10-01

    Full Text Available Se realizó un estudio comparativo, longitudinal y prospectivo de 60 adultos con quemaduras profundas, atendidos en el Hospital General docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, desde febrero de 2013 hasta igual mes de 2014, para evaluar la efectividad de la terapia regenerativa con plasma rico en plaquetas para la cicatrización de estas lesiones. La muestra fue dividida en 2 grupos de 30 integrantes cada uno: a los del primero se les aplicó plasma rico en plaquetas y a los del segundo sulfadiazina de plata. Se utilizaron las frecuencias absolutas y el porcentaje como medidas de resumen para variables cualitativos, así como la media aritmética y la desviación estándar para las cuantitativas. Con el proceder aplicado la cicatrización se completó en un tiempo menor, de manera que se demostró la efectividad de esta alternativa terapéutica en relación con el tratamiento convencional

  11. Efectos del contacto piel con piel del recién nacido con su madre

    Directory of Open Access Journals (Sweden)

    Camila Lucchini Raies

    Full Text Available Antecedentes: el contacto piel con piel ha sido una práctica ancestral en toda cultura, que debido a la institucionalización de la atención del parto, disminuyó en occidente. Se retomó en el marco de la atención humanizada del parto. Objetivo principal: determinar los efectos del contacto piel con piel del recién nacido con su madre. Metodología: revisión bibliográfica de 26 estudios. Límites de búsqueda: new borns, humans, clinical trials, de 10 años de publicación, en bases de datos: Pubmed, ProQuest, CINHAL, Lilacs. Resultados principales: Se observaron beneficios en las variables: duración de lactancia materna, comportamiento neurosensorial, regulación de temperatura, como alternativa al cuidado estándar, disminución en días hospitalización y niveles de cortisol, favorecedor de la interacción madre-hijo y desarrollo infantil. Conclusión principal: el contacto piel con piel brinda múltiples beneficios a recién nacidos. Se presenta como alternativa de cuidado segura, factible de implementar.

  12. Estudio observacional prospectivo con insulina detemir en pacientes con diabetes mellitus tipo 2 mal controlados que inician por primer vez tratamiento con insulina (estudio SOLVE

    Directory of Open Access Journals (Sweden)

    Domingo Orozco-Beltrán

    2016-02-01

    Conclusiones: En esta cohorte de pacientes con diabetes mellitus tipo 2 recientemente insulinizados, la insulina detemir (una vez al día mejoró el control glucémico, con baja incidencia de hipoglucemia y una reducción significativa del peso.

  13. BIOMASA Y RENDIMIENTO DE FRIJOL CON POTENCIAL EJOTERO EN UNICULTIVO Y ASOCIADO CON GIRASOL

    Directory of Open Access Journals (Sweden)

    J. Garduño-González

    2009-01-01

    Full Text Available El objetivo del presente estudio fue estimar la producción de biomasa, rendimiento y algunos de sus componentes de dos cultivares de frijol (Phaseolus vulgaris L. con potencial ejotero ('Acerado' y 'Criollo', en unicultivo y asociado con dos cultivares de girasol (Helianthus annuus L. ('Sunbright' y 'Victoria'. El estudio se realizó durante el ciclo primavera verano 2006 bajo condiciones de temporal en Tenancingo, Méx. Las variables evaluadas fueron: índice de área foliar (IAF, tasa de asimilación neta (TAN, biomasa total (BT, diámetro de vaina (DV, longitud de vaina (LV, número de vainas·m-2 (NV y rendimiento de vaina·m-2 (RV; las cuales fueron analizadas en arreglo factorial, bajo un diseño de bloques completos al azar con cuatro repeticiones. Para estimar el grado de asociación, entre las variables estudiadas y el rendimiento de vainas, se realizó un análisis de correlación lineal simple. En el factor cultivares se detectaron diferencias estadísticas significativas para la TAN y DV; para el factor sistemas de siembra hubo diferencias significativas para BT, DV, NV y RV. La interacción cultivares * sistema de siembra fue significativa en todas las variables, excepto en la TAN. En ese sentido, las asociaciones 'Criollo' + 'Sunbright', 'Acerado' + 'Victoria' y 'Acerado' en unicultivo, presentaron el mayor RV. Las variables IAF, BT y NV se correlacionaron positiva y significativamente con el rendimiento de vaina. Los resultados indican que 'Criollo' y 'Acerado', asociados con 'Sunbright' y 'Victoria', respectivamente, responden positivamente a la asociación, constituyendo una buena opción para los productores de la región de Tenancingo, México.

  14. Incidencia y factores asociados con las reacciones adversas del tratamiento antirretroviral inicial en pacientes con VIH

    Directory of Open Access Journals (Sweden)

    Juan Astuvilca

    2007-07-01

    Full Text Available La alta incidencia de reacciones adversas medicamentosas (RAMA al tratamiento antirretroviral de gran actividad (TARGA en pacientes con VIH/SIDA puede afectar la calidad de vida y adherencia al tratamiento. Objetivos: Determinar la incidencia de RAMA del TARGA inicial e identificar los factores asociados con la ocurrencia de RAMA al recibir dicha terapia. Materiales y métodos: Se realizó un estudio de cohorte histórica con todos los pacientes VIH (+ mayores de 18 años que recibieron TARGA por primera vez en el Hospital Nacional Arzobispo Loayza, con un seguimiento de 360 días desde la primera prescripción. Se recabó las RAMA de las historias clínicas y tarjetas de control. Resultados: Se incluyeron 353 pacientes, se encontró una incidencia acumulada de 66,7% de efectos adversos al TARGA inicial y una densidad de incidencia de 9,1 eventos de RAMA por 10 personas año de seguimiento (IC95%: 8,1-10,1. Anemia (23,4%, náuseas (20,6% y rash (17,2% fueron las RAMA más frecuentes. El uso de drogas (OR 2,40; IC95% 1,01-5,67; consumo de alcohol (OR 0.32; IC95%: 0,19-0,55 y estadio SIDA (OR 0,20; IC95%: 0,04-0,95 estuvieron asociadas con la presencia de RAMA. Conclusiones: Existe un alta incidencia de RAMA, siendo la anemia la más frecuente. El uso de drogas es un factor de riesgo para presentar RAMA.

  15. Hidroxilación de fenol con catalizadores ZSM-5 modificado con cobre

    Directory of Open Access Journals (Sweden)

    César Augusto Caro

    2005-01-01

    Full Text Available Se sintetizaron varios catalizadores Cu-ZSM-5 con diferentes relaciones Si/Al y Si/Cu. Usando metilamina o hidróxido de sodio como agente mineralizante. Los catalizadores se caracterizaron por DRX, IR, análisis BET, UV-VIS y análisis elemental. El desempeño catalítico de los catalizadores sintetizados se evaluó en la hidroxilación de fenol con H2O2. Se encontró que la relación catecol (CAT/(hidroquinona (HQ + p-benzoquinona (PBQ aumentó con el contenido de agua, presentó un máximo cuando la relación en peso de agua/fenol fue de 53/1 y se favoreció a altas temperaturas, con el aumento del contenido de aluminio o con la disminución en el contenido de catalizador. El contenido de cobre no fue un factor determinante para la conversión ni para la selectividad en la hidroxilación de fenol. La producción de la p-benzoquinona (PBQ, producto de oxidación de la hidroquinona, fue mínimo cuando se usaron las siguientes condiciones: 80 ºC, fenol: 1 mmol, relación molar fenol/H2O2 de 3/1, catalizador: 20 mg, agua: 5 g, tiempo de reacción: 4 h.

  16. Los profesores de alumnos con altas habilidades

    Directory of Open Access Journals (Sweden)

    Cándido GENOVARD

    2010-01-01

    Full Text Available En este trabajo analizamos las características de los profesores expertos para alumnos de altas habilidades. Se analizan los antecedentes del tema y el proceso instruccional para atender la diversidad de estos alumnos. Se destaca el valor de las interacciones entre profesor¿ alumnos y los estilos de enseñar y aprender. Asimismo, recogemos pautas de acción y recursos instruccionales a utilizar en el aula para la enseñanza de estos alumnos. No hay un profesor ideal para los alumnos con altas habilidades, pero los docentes deben conocer qué son y cómo funcionan los procesos de enseñanza¿aprendizaje y las variables psicológicas, de contenidos y contextuales implicadas en éstos.

  17. Cenizas, cementos y hormigones con cenizas

    Directory of Open Access Journals (Sweden)

    Calleja, José

    1982-09-01

    Full Text Available This paper describes the chemical composition and the morfological nature of pulverized coal ashes, as well as their physical characteristics. Their influences —actions and effects— on the main properties and behaviour of cements and concretes, and the more adequate conditions for their efficient use un them are also described.

    En este trabajo se exponen la composición química y la naturaleza morfológica de las cenizas pulverulentas de los carbones, así como sus características físicas. Se describen asimismo sus influencias —acciones y efectos— sobre las principales propiedades y comportamientos más importantes de los cementos y de los hormigones, así como las condiciones más idóneas para su más eficaz empleo con y en ellos.

  18. Estudio de pacientes colombianos con homocistinuria

    Directory of Open Access Journals (Sweden)

    M. Bermúdez

    2001-07-01

    Full Text Available La homocistinuria es una alteración bioquímica producida por causas genéticas como son la deficiencia de alguna de las enzimas involucradas en el metabolismo de metionina u homocisteína: Cistationina b sintasa, 5-10 Metilentetrahidrofolato reductasa, o Metionina sintasa al igual que a deficiencias nutricionales y asocio a otras patologías como son la enfermedad renal y problemas  vasculares. El objetivo de este trabajo es la identificación de la deficiencia bioquímica en pacientes con homocistinuria, mediante la cuantificación de las enzimas involucradas, utilizando como muestras fibroblastos y linfocitos.

  19. Cervical disc arthroplasty: Pros and cons.

    Science.gov (United States)

    Moatz, Bradley; Tortolani, P Justin

    2012-01-01

    Cervical disc arthroplasty has emerged as a promising potential alternative to anterior cervical discectomy and fusion (ACDF) in appropriately selected patients. Despite a history of excellent outcomes after ACDF, the question as to whether a fusion leads to adjacent segment degeneration remains unanswered. Numerous US investigational device exemption trials comparing cervical arthroplasty to fusion have been conducted to answer this question. This study reviews the current research regarding cervical athroplasty, and emphasizes both the pros and cons of arthroplasty as compared with ACDF. Early clinical outcomes show that cervical arthroplasty is as effective as the standard ACDF. However, this new technology is also associated with an expanding list of novel complications. Although there is no definitive evidence that cervical disc replacement reduces the incidence of adjacent segment degeneration, it does show other advantages; for example, faster return to work, and reduced need for postoperative bracing.

  20. RadCon Occurrence Reporting Simplified

    International Nuclear Information System (INIS)

    Denham, D. H.

    1999-01-01

    This narrative and accompanying diagrams provide a simplified summary of the RadCon Occurrence Reporting criteria to allow Environmental Restoration Contractor (ERC) staff to efficiently recognize occurrences and to effectively initiate the implementation of the requirements of U.S. Department of Energy (DOE) Order 232.1A, Occurrence Reporting and Processing of Operations Information, and of the ERC criteria defined in BHI-MA-02, ERC Project Procedures, Procedure 2.6, ''Occurrence Investigation and Reporting.'' These directives promote timely identification, categorization, notification, and reporting to DOE and ERC management of reportable occurrences at DOE-owned or -operated facilities that could (1) affect health and safety of the public, (2) seriously impact the intended purpose of DOE facilities, (3) adversely affect the credibility of DOE, or (4) have a noticeable adverse effect on the environment

  1. Con los ojos en las pieles

    Directory of Open Access Journals (Sweden)

    Andrés Inocente Martín Hernández

    2016-10-01

    Full Text Available Metáforas Construidas, exposición realizada en Bogotá, Colombia, donde se exhibieron obras de la artista brasileña Regina Silveira, seleccionadas a partir de una línea conceptual que relacionó el recorte cronológico de la producción de la artista en relación directa con el contexto arquitectónico del espacio expositivo. Esa relación direccional fue considerada en la inserción de los trabajos de otros cuatro artistas en la exposición. El texto destaca los diálogos y métodos utilizados para la concepción, construcción y discusión de la exposición.

  2. Accesibilidad digital para usuarios con limitaciones visuales

    Directory of Open Access Journals (Sweden)

    Toledo, Gabriela Alejandra

    2013-04-01

    Full Text Available El presente trabajo persigue como objetivos: recapitular y analizar los principios básicos de diseño para el desarrollo de tecnologías inclusivas; evaluar ventajas y desventajas en el uso del programa lector de pantalla (JAWS al acceder a entornos comunicacionales, desde las variables de navegabilidad, interoperabilidad, usabilidad y colaboración en la cognición; derivar sugerencias acerca del diseño de entornos de aprendizaje colaborativo, de modo de lograr una mayor efectividad de esta herramienta digital, aplicada a personas con limitaciones en la visión en diverso grado; redactar un manual complementario de orientaciones que facilite el uso de este instrumento inclusivo, aplicado a entornos de enseñanza/ aprendizaje colaborativo.

  3. Jícama: Producto con Identidad Territorial

    Directory of Open Access Journals (Sweden)

    Marisol Idrovo Avecillas

    2015-11-01

    La jícama es un producto con identidad territorial (PIT, son fragmentos de la perspectiva de tierras aptas para el cultivo, producción, comercialización sostenible que se apega al Plan Nacional del Buen Vivir, que se ajusta al cambio de la Matriz Productiva incluyendo a los sectores involucrados del país, este vegetal andino no es consumido regularmente por los ecuatorianos; los resultados obtenidos en el laboratorio nos indican que es un vegetal rico en: grasa, proteína, humedad, fibra dietética, carbohidratos totales, energía total, energía de la grasa, hierro, sodio, potasio, calcio, vitaminas, entre otras propiedades.

  4. Lesiones bucales relacionadas con las enfermedades digestivas

    Directory of Open Access Journals (Sweden)

    José A. Pacho Saavedra

    2006-09-01

    Full Text Available Muchas de las lesiones de la mucosa en la cavidad bucal están relacionadas con trastornos anatómicos y funcionales de los órganos del aparato digestivo; algunas forman parte del cuadro clínico de la entidad y otras aparecen como complicaciones de estas. Generalmente son de orígenes inmunológicos, nutricionales o carenciales. Estas lesiones son difíciles de tratar, por lo que es importante conocer las características clínicas que faciliten una adecuada interpretación y al mismo tiempo ofrecer una conducta terapéutica correcta. Se presenta una revisión actualizada de las características semiológicas de las lesiones bucales que forman parte del cuadro clínico de diversas enfermedades digestivas, con el fin de que los médicos generales, clínicos, estomatólogos y gastroenterólogos puedan diagnosticarlas y brindar mejor orientación y tratamiento a los pacientes.Many of the lesions of the mucosa in the oral cavity are related to anatomical and functional disorders of the organs of the digestive system. Some of them are part of the clinical picture of the entity and others appear as complications of them. Generally, they have an immunological, nutritional, or deficiency origin. These lesions are difficult to be treated and that's why it is important to know the clinical characteristics making easy an adequate interpretation, and to follow a suitable therapeutic conduct at the same time. An updated review of the semiological features of the oral lesions corresponding to the clinical picture of diverse digestive diseases is presented, so that the general physicians, clinicians, stomatologists and gastroenterologists be able to diagnose and give a better guidance and treatment to the patients.

  5. Modelización financiera con Excel

    Directory of Open Access Journals (Sweden)

    Lafuente Robledo, M.

    1998-01-01

    Full Text Available La enseñanza de la Matemática de las Operaciones Financieras ha experimentado durante la década de los noventa una transformación profunda como consecuencia de la progresiva introducción de los programas informáticos. Las hojas de cálculo, dada su gran facilidad de uso, su flexibilidad y su utilización generalizada, han sido una de las herramientas disponibles más potentes para el tratamiento de problemas financieros. De ahí que su incorporación a los programas docentes de esta disciplina se hayan convertido en una norma casi obligada para garantizar la calidad de la enseñanza en esta materia. No obstante, es preciso tener en cuenta que para aplicaciones de alto nivel se requieren programas más especializados (por ejemplo, para gestión de carteras y que cada vez están más extendidas otras herrramientas informáticas de cálculo avanzado como los programas de cálculo numérico (por ejemplo, las aplicaciones financieras específicas de Matlab o de cálculo simbólico (Mathematica, Maple, Matlab, Derive, etc.. De ahí que la hoja de cálculo haya dejado de ser el único programa informático de uso generalizado para el tratamiento de operaciones financieras, y que progresivamente sea preciso incorporar las nuevas aplicaciones en los curricula del alumno. La utilización de las hojas de cálculo en la modelización de problemas de matemática financiera representa importantes ventajas didácticas: · Dado el carácter eminentemente práctico de la misma, simplifica en gran medida la materia a impartir, ya que con los principios y razonamientos elementales permite prescindir del desarrollo de buen número de las fórmulas que la matemática financiera plantea para realizar valoraciones. · Como consecuencia se produce un gran ahorro de tiempo en cuanto a las necesidades de clases magistrales, lo cual permite dedicar más tiempo a la explicación detallada y pormenorizada de los conceptos fundamentales. · Desde el punto de vista

  6. Equinoterapia en niños con autismo

    OpenAIRE

    Martinez Alvernia, Carlos Francisco

    2015-01-01

    Introducción: Autismo es un trastorno del desarrollo caracterizado por compromiso en interacción social, habilidades de lenguaje, presentando rituales con estereotipias. Sin tratamientos curativos, actualmente se buscan terapias alternativas. Un incremento de la literatura científica de terapias asistidas con animales se ha evidenciado, demostrando mejoría en pacientes autistas con la equinoterapia. Objetivo: Realizar una revisión sistemática de la literatura para evaluar efectividad de la eq...

  7. Mi palabra favorita. Una actividad con vídeo

    Directory of Open Access Journals (Sweden)

    Susana Cañuelo Carrión

    2012-08-01

    Full Text Available Mi palabra favorita es un actividad que surge a partir de la propuesta que realizael Instituto Cervantes con la web El día E (www.eldiae.es. Este portal fue creado enconmemoración del día del español, que se celebra desde 2009 el último sábado dejunio. Para festejar la vitalidad de la lengua y el interés mundial que despierta, hablantesy aprendientes de todo el mundo pueden explicar en dicho portal cuál es su palabrafavorita. Y pueden hacerlo con un texto, con un pictograma o con un vídeo.

  8. Anestesia para cesárea en paciente con acondroplasia

    OpenAIRE

    Osorio Rudas, Walter; Socha García, Nury Isabel; Upegui, Alejandro; Ríos Medina, Ángela; Moran, Adrian; Aguirre Ospina, Oscar; Rivera, Carlos

    2012-01-01

    Introducción: En gestantes acondroplásicas se recomienda el parto por cesárea con anestesia general; sin embargo, recientemente se ha reportado el uso de técnicas conductivas con resultados adecuados. Objetivo:Describir el manejo anestésico de una paciente con acondroplasia programada para cesárea utilizando anestesia combinada espinal-epidural. Métodos y resultados:Mostramos el caso de una primigestante acondroplásica con 110 cm de estatura y embarazo de 37 semanas, en quien se realizó cesár...

  9. Plasma rico en plaquetas en pacientes con gonartrosis

    OpenAIRE

    Álvarez López, Alejandro; Ortega González, Carlos; García Lorenzo, Yenima; Arias Sifontes, Joanka; Ruiz de Villa Suárez, Abel

    2013-01-01

    Fundamento: la aplicación del plasma rico en plaquetas se ha convertido en una modalidad de tratamiento para pacientes con gonartrosis, tanto de forma aislada como en combinación con otros procedimientos. Objetivo: actualizar al personal médico sobre aspectos esenciales relacionados con la aplicación del plasma rico en plaquetas en pacientes con gonartrosis. Método: se realizó una revisión bibliográfica de un total de 300 artículos originales publicados en Pubmed, Hinari y Medline, mediante e...

  10. Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos Numeric alterations in the dys gene and their association with clinical features

    Directory of Open Access Journals (Sweden)

    Alejandra Mampel

    2011-04-01

    Full Text Available La distrofia muscular de Duchenne/Becker (DMD/B es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70% de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el estudio de alteraciones numéricas en los 79 exones del gen DYS. El estudio fue realizado en 59 individuos pertenecientes a 31 familias no relacionadas. La metodología utilizada fue Multiplex Ligation Dependent Probe Amplification (MLPA. En los 31 casos independientes se estableció además el score clínico, se realizó el test de Raven y se determinaron los valores de creatininfosfoquinasa (CPK en sangre. Nuestros datos revelan una frecuencia de alteraciones numéricas en el gen DYS del 61.3%, provocando un corrimiento del marco de lectura en el 100% de los casos. Se observó una región con mayor tendencia a presentar alteraciones que involucran un solo exón. La tasa de mutación de novo identificada fue del 35.2%. Se halló, a su vez, una asociación significativa entre afectados con alteraciones numéricas y valores del test de Raven de bajo rendimiento. Estos resultados aportan datos a los conocimientos regionales sobre las alteraciones genéticas y su impacto fenotípico en la enfermedad de Duchenne/Becker.The Duchen ne/Becker muscular dystrophy is a hereditary miopathy with a recessive sex-linked pattern. The related gene is called DYS and the coded protein plays a crucial role in the anchorage between the cytoskeleton and the cellular membrane in muscle cells. Different clinical manifestations are observed depending on the impact of the genetic alteration on the protein. The global register of mutations reveals an enhanced frequency for

  11. Relación del perfil salival con el grado de inmunosupresión en pacientes infectados con VIH con y sin tratamiento antirretroviral

    OpenAIRE

    Vera Cruz, Moisés; Cornejo Salaza, José; Chiyong, Teresa Evaristo; Arevalo Abanto, Jorge A.; Villanueva Vílchez, Hugo G.

    2014-01-01

    El objetivo del estudio fue evaluar el perfil salival de pacientes con infección por VIH con y sin Tratamiento Antirretroviral de Gran Actividad (TARGA), por medio de la evaluación de los síntomas de hipofunción salival (Xerostomía, Disgeusia, Disfagia y Susceptibilidad de desarrollar úlceras orales), la Tasa de Flujo salival no estimulado, el pH salival y la viscosidad salival; estableciendo su relación con el Grado de Inmunosupresión, evaluado por medio del Recuento de Linfocitos CD4/μl. Se...

  12. Estudio comparativo del efecto del cepillado con una crema dental con propóleos rojos y de un gel con clorofila

    OpenAIRE

    Estela Gispert Abreu; Elena Cantillo Estrada; Aracelys Rivero López; Berta Oramas Rodríguez

    1998-01-01

    Se analiza comparativamente el efecto de un gel dental de clorofila y de una crema dental con propóleos rojos sobre varios parámetros relacionados con la caries dental, en escolares que se cepillaron durante 21 días con dichos productos. Se obtuvieron resultados favorables principalmente en la disminución del grado de infección por Streptococcus mutans y la elevación de la capacidad individual de remineralización; salvo en este último no hubo diferencias estadísticamente significativas.Author...

  13. MODELADO CON REDES DE PETRI E IMPLEMENTACIÓN CON GRAFCET DE UN SISTEMA DE MANUFACTURA FLEXIBLE CON PROCESOS CONCURRENTES Y RECURSOS COMPARTIDOS

    OpenAIRE

    Johanna Stella Castellanos Arias; Leonardo Enrique Solaque Guzmán

    2010-01-01

    En este trabajo, se presenta el modelado de un Sistema de Manufactura Flexible (SMF), con procesos concurrentes y recursos compartidos mediante Sistemas a Eventos Discretos (SED), específicamente Redes de Petri (RdP), y GRAFCET. El SMF se plantea como un modelo hipotético que se modela con una RdP con el objeto de identificar su dinámica y hallar la secuencia óptima de funcionamiento del sistema. Se desarrolló un modelo matemático que permite estimar el vector de tiempo acumulado de un proces...

  14. Enfermedad periodontal en pacientes con discapacidad en custodia versus pacientes con discapacidad independientes

    Directory of Open Access Journals (Sweden)

    Fermín-Guerrero-Del Ángel

    2012-01-01

    Full Text Available Objetivo: Identificar el estado de salud periodontal en pacientes con discapacidad en custodia versus pacientes independientes en su higiene oral. Material y métodos: Se examinaron pacientes con discapacidad, ambos sexos, 3 a 19 años que acuden al Servicio de Odontopediatría del Centro de Rehabilitación Infantil Teletón (CRIT Tamaulipas mediante revisión de cavidad oral y aplicación del Índice de Higiene Oral Simplificado (IHOS, Índice Periodontal Comunitario de la Necesidad de Tratamiento (IPCNT y entrevista con su cuidador primario. Se agruparon en dos categorías: Independientes y de Custodia. Resultados: En el total de la muestra la Media y Desviación estándar (D.E. de IPCNT fue de 0.89±0.54, así como el IHOS de 1.88±0.77. El IPCNT en pacientes con discapacidad de Custodia fue 0.91±0.57 e Independientes de 0.86±0.49 (p=0.70, IHOS en pacientes de Custodia 1.89±0.78 e Independientes 1.87±.0.74 (p=.93. IPCNT en géneros masculino 1.03±0.54 y femenino 0.75±0.51 (p=.009. IHOS en pacientes que habitan área rural 2.41±1.25 y área urbana 1.83±0.68 (p=.02. Relación entre la edad y la necesidad de tratamiento periodontal (p=0.001. Frecuencia del cepillado del grupo Independientes 2.03±0.56 y de Custodia 2.00±0.75 (p=.84. Conclusiones: No existe diferencia en el estado de salud periodontal y el grado de higiene oral entre pacientes con discapacidad Independientes y de Custodia. La mayoría de los pacientes Independientes y de Custodia tienen una necesidad de tratamiento de Instrucción de Higiene Oral (TN1 y tienen Higiene Oral Regular.

  15. Efectos del tratamiento con litio sobre las funciones neurosicológicas de pacientes con trastorno bipolar de tipo I

    Directory of Open Access Journals (Sweden)

    Anabel Martínez Aran

    2008-11-01

    Full Text Available OBJETIVO: determinar si el tratamiento continuo con litio influye en el desempeño cognitivo de un grupo de pacientes eutímicos con trastorno afectivo bipolar I. MÉTODO: se evaluó el desempeño cognitivo usando pruebas neurosicológicas de atención, memoria y función ejecutiva en 20 pacientes eutímicos con trastorno afectivo bipolar I que no tomaban medicación, 20 pacientes eutímicos con trastorno afectivo bipolar I quienes continuaban regularmente el tratamiento con carbonato de litio, y un tercer grupo de 20 pacientes control. RESULTADOS: no se encontraron diferencias estadísticamente significativas entre los dos grupos de pacientes con trastorno afectivo bipolar. Sin embargo, al compararlos con el grupo control, su desempeño en términos de memoria verbal, viso-verbal y asociación semántica medida fue menor. DISCUSIÓN: los pacientes con trastorno afectivo bipolar I muestran deficiencias en términos de memoria verbal y viso-verbal que no pueden ser atribuidos al tratamiento regular con carbonato de litio. Por el contrario, estas deficiencias podrían ser consideradas como características de rasgo de este trastorno.

  16. Calidad de vida relacionada con la salud del niño y del adolescente con obesidad

    OpenAIRE

    Hurtado-Valenzuela, Jaime Gabriel; Álvarez-Hernández, Gerardo

    2014-01-01

    Objetivo Estimar la calidad de vida relacionada con la salud (CVRS) en un grupo de niños y adolescentes con obesidad de la ciudad de Hermosillo, Sonora, México. Métodos Se realizó un estudio transversal utilizando el cuestionario PedsQL® para comparar la CVRS de 200 niños y adolescentes con obesidad al igual que a sus padres, con dos grupos de control, uno de la comunidad (n=400) y otro grupo de usuarios (n=200) del Hospital Infantil del Estado de Sonora. Las diferencias en la CVRS fueron eva...

  17. CONSIDERACIONES RELACIONADAS CON LAS INSPECCIONES DE SOFTWARE

    Directory of Open Access Journals (Sweden)

    Bexy Alfonso Espinosa

    2006-04-01

    Full Text Available

     

     

    Las consideraciones que en el presente trabajo se reflejan están enfocadas a enfatizar la importancia y necesidad de la aplicación de técnicas de verificación como las inspecciones de software, en la industria de software. Especialmente si de pequeñas y medianas empresas se trata pues en ellas recae la responsabilidad de lograr una industria de software de excelencia y con la calidad requerida en países en vías de desarrollo. Se analizan además, una serie de autores y las investigaciones que han realizado relativas a la concepción del proceso de inspección de software y los recursos y personal que deben tenerse en cuenta para ello.

  18. derechos de las personas con VIH

    Directory of Open Access Journals (Sweden)

    Ana Elena Badilla

    2007-01-01

    Full Text Available El marco constitucional y legal de Costa Rica, incluida la jurisprudencia de la Sala Constitucional de la Corte Suprema de Justicia, es fiel garante de los derechos humanos. Además, la existencia de un amplio marco jurídico internacional vigente en el país sobre protección de tales derechos contribuye a llenar las lagunas que presenta la legislación nacional. Particularmente destacable ha sido el papel jugado por la citada Sala Constitucional en la defensa de los derechos humanos de las personas afectadas por el virus de inmunodeficiencia humana (VIH, en especial al garantizarles sus derechos a los medicamentos antirretrovirales. También la Defensoría de los Habitantes ha instado en múltiples ocasiones a las instituciones públicas a impulsar políticas que permitan alcanzar los fines previstos en la legislación sobre la materia, la cual presenta aún importantes vacíos en relación con la perspectiva de género, la población joven, los derechos de la personalidad o el ámbito laboral, entre otros.

  19. Factores psicosociales del trabajo con computador

    Directory of Open Access Journals (Sweden)

    Guerrero Juan

    1996-12-01

    Full Text Available

    The generalized use of the computer in all the social activity fields imposes the identification of those critical aspects of their implementation. This paper it's a detailed review of the psychosocial factors inherent to the relationship between the health and the computer work at the office. The factors documented are: organizational, ergonomics, those of the requirements of the work and those of the personal characteristics of the computer users.

    El uso generalizado del computador en todos los campos de actividad social impone la identificación de aquellos aspectos críticos de su implementación. En este trabajo se elabora una detallada revisión de los factores psicosociales inherentes a la relación entre la salud y el trabajo con computador en las oficinas. Se documentan los factores organizacionales, los ergonómicos, los de las exigencias del trabajo y los de las características personales de los usuarios de computadores.

  20. Efecto de un tratamiento intensivo con insulina sobre la reactividad plaquetaria en pacientes con hiperglucemia que ingresan con un síndrome coronario agudo

    OpenAIRE

    Vivas Balcones, Luis David

    2011-01-01

    El objetivo primario de este trabajo ha sido la valoración del efecto que produce el control estricto de la glucemia mediante un tratamiento intensivo y precoz con insulina sobre la reactividad plaquetaria durante la fase hospitalaria en pacientes que ingresan en una unidad de cuidados intensivos cardiológicos con un síndrome coronario agudo e hiperglucemia, respecto a un tratamiento convencional.

  1. Atmospheric chemistry of HFE-7000 (CF(3)CF (2)CF (2)OCH (3)) and 2,2,3,3,4,4,4-heptafluoro-1-butanol (CF (3)CF (2)CF (2)CH (2)OH): kinetic rate coefficients and temperature dependence of reactions with chlorine atoms.

    Science.gov (United States)

    Díaz-de-Mera, Yolanda; Aranda, Alfonso; Bravo, Iván; Rodríguez, Diana; Rodríguez, Ana; Moreno, Elena

    2008-10-01

    The adverse environmental impacts of chlorinated hydrocarbons on the Earth's ozone layer have focused attention on the effort to replace these compounds by nonchlorinated substitutes with environmental acceptability. Hydrofluoroethers (HFEs) and fluorinated alcohols are currently being introduced in many applications for this purpose. Nevertheless, the presence of a great number of C-F bonds drives to atmospheric long-lived compounds with infrared absorption features. Thus, it is necessary to improve our knowledge about lifetimes and global warming potentials (GWP) for these compounds in order to get a complete evaluation of their environmental impact. Tropospheric degradation is expected to be initiated mainly by OH reactions in the gas phase. Nevertheless, Cl atoms reaction may also be important since rate constants are generally larger than those of OH. In the present work, we report the results obtained in the study of the reactions of Cl radicals with HFE-7000 (CF(3)CF(2)CF(2)OCH(3)) (1) and its isomer CF(3)CF(2)CF(2)CH(2)OH (2). Kinetic rate coefficients with Cl atoms have been measured using the discharge flow tube-mass spectrometric technique at 1 Torr of total pressure. The reactions of these chlorofluorocarbons (CFCs) substitutes have been studied under pseudo-first-order kinetic conditions in excess of the fluorinated compounds over Cl atoms. The temperature ranges were 266-333 and 298-353 K for reactions of HFE-7000 and CF(3)CF(2)CF(2)CH(2)OH, respectively. The measured room temperature rate constants were k(Cl+CF(3)CF(2)CF(2)OCH(3)) = (1.24 +/- 0.28) x 10(-13) cm(3) molecule(-1) s(-1)and k(Cl+CF(3)CF(2)CF(2)CH(2)OH) = (8.35 +/- 1.63) x 10(-13) cm(3) molecule(-1) s(-1) (errors are 2sigma + 10% to cover systematic errors). The Arrhenius expression for reaction 1 was k (1)(266-333 K) = (6.1 +/- 3.8) x 10(-13)exp[-(445 +/- 186)/T] cm(3) molecule(-1) s(-1) and k (2)(298-353 K) = (1.9 +/- 0.7) x 10(-12)exp[-(244 +/- 125)/T] cm(3) molecule(-1) s(-1) (errors

  2. Infliximab en pacientes con enfermedad ocular inflamatoria, refractarios a DARMES

    Directory of Open Access Journals (Sweden)

    Elmer R. García-Salazar

    2013-07-01

    Full Text Available Se describe la experiencia con infliximab (anticuerpo monoclonal con una potente acción antiinflamatoria en el tratamiento de enfermedades oculares inflamatorias secundarias a patologías reumáticas y refractarias a drogas antirreumáticas modificadoras de la enfermedad (DARMES. Se evaluó el caso de una paciente de 50 años con artritis reumatoide (AR de fondo activo y una paciente de 37 años con vasculitis anticuerpos anticitoplasma de neutrófilos especifico para mieloperoxidasa (ANCA MPO sin compromiso de órgano noble, ambas con escleritis bilateral y perforación con prolapso de iris del ojo izquierdo. Ellas recibieron infliximab EV en dosis de 3 a 5 mg/kg/dosis, según el esquema, a las 0, 2, 6 y 8 semanas. Infliximab resultó eficaz y seguro para el tratamiento de escleritis asociada a AR y vasculitis ANCA MPO positivo, refractaria a tratamiento con DARMES y corticoides en dosis altas. Los injertos de tejido esclerocorneal evolucionaron favorablemente con infliximab.

  3. Trazando la materia oscura con cúmulos globulares

    Science.gov (United States)

    Forte, J. C.

    Se describe la estrategia adoptada para mapear la distribución de materia oscura y bariónica en galaxias elípticas cuyos cúmulos globulares están siendo observados con los telescopios VLT y Gemini. Se ejemplifican los resultados con los datos obtenidos en el cúmulo de Fornax.

  4. Colaboración con empresa de tasaciones

    OpenAIRE

    CASTILLO MORCILLO, JUAN

    2011-01-01

    Convenios con empresas de tasaciones y valoraciones. El objeto del proyecto es conseguir aprender y dominar el proceso de valoración de los distintos tipos de inmuebles urbanos mediante el cumplimiento de la Orden ministerial ECO/805/2003 Castillo Morcillo, J. (2011). Colaboración con empresa de tasaciones. http://hdl.handle.net/10251/11933. Archivo delegado

  5. ConsExpo - Consumer Exposure and Uptake Models -Program Manual

    NARCIS (Netherlands)

    Delmaar JE; Park MVDZ; Engelen JGM van; SIR

    2006-01-01

    This report provides guidance to the use of ConsExpo 4.0, successor to ConsExpo 3.0, a computer program that was developed to assist in the exposure assessment of compounds in non-food consumer products. The wide range of available consumer products is associated with an even wider variation in

  6. RoboCon: A general purpose telerobotic control center

    International Nuclear Information System (INIS)

    Draper, J.V.; Noakes, M.W.; Blair, L.M.

    1997-01-01

    This report describes human factors issues involved in the design of RoboCon, a multi-purpose control center for use in US Department of Energy remote handling applications. RoboCon is intended to be a flexible, modular control center capable of supporting a wide variety of robotic devices

  7. RoboCon: A general purpose telerobotic control center

    Energy Technology Data Exchange (ETDEWEB)

    Draper, J.V.; Noakes, M.W. [Oak Ridge National Lab., TN (United States). Robotics and Process Systems Div.; Schempf, H. [Carnegie Mellon Univ., Pittsburgh, PA (United States); Blair, L.M. [Human Machine Interfaces, Inc., Knoxville, TN (United States)

    1997-02-01

    This report describes human factors issues involved in the design of RoboCon, a multi-purpose control center for use in US Department of Energy remote handling applications. RoboCon is intended to be a flexible, modular control center capable of supporting a wide variety of robotic devices.

  8. Games Con Men Play: The Semiosis of Deceptive Interaction.

    Science.gov (United States)

    Hankiss, Agnes

    1980-01-01

    Analyzes some of the most frequent deceptive interactions as rendered through case histories of male con artists and their victims taken from police records. Discusses the recurrent elements in both the con-games strategies and victims' way of interpreting those strategies. (JMF)

  9. Tratamiento de la tiroiditis de Riedel con triamcinolona

    Directory of Open Access Journals (Sweden)

    Germán Brito Sosa

    Full Text Available Se presenta el primer paciente con una tiroiditis de Riedel que se le aplica un tratamiento alternativo con triamcinolona creado por el profesor Juan Gualberto Vivó Núñez. Es el caso de una mujer de 48 años de edad, que acude al cuerpo de guardia por aumento de volumen de la región anterior del cuello y referir ligera disfagia. Tiene antecedente inicialmente de hipertiroidismo, a los 9 años comenzó con hipotiroidismo y hace aproximadamente un año se le diagnosticó una tiroiditis de Hashimoto, con seguimiento por endocrinología. La ecografía del tiroides muestra un aumento marcado de la glándula tiroidea y las imágenes de la biopsia por aspiración con aguja fina (BAAF son compatibles con una tiroiditis de Hashimoto. Con estos resultados se decide intervenirla quirúrgicamente eliminando así los signos compresivos. La biopsia postoperatoria describe una tiroiditis de Riedel. Por el gran tamaño de los lóbulos tiroideos, se le infiltra triamcinolona 1/2 cc en cada lóbulo, una vez al mes durante cuatro meses; logrando reducir aproximadamente el 50 % de los lóbulos tiroideos. Por lo que se puede apreciar los resultados obtenidos con el uso de la triamcinolona.

  10. Diálogo con Manuel Chiriboga sobre nueva ruralidad

    OpenAIRE

    Pérez E, Laura

    2012-01-01

    Introducción Lo que sigue es una conversación por correo electrónico que Laura Pérez E., de PERSPECTIVAS RURALES, mantuvo con Manuel Chiriboga, especialista en desarrollo rural, con amplia experiencia en toda América Latina y la problemática de su país, Ecuador…

  11. Actitud de universitarios hacia las personas con discapacidad

    Directory of Open Access Journals (Sweden)

    Alexis Araya-Cortés

    2014-08-01

    Full Text Available El objetivo de este estudio fue describir y comparar la actitud hacia las personas con discapacidad de estudiantes de pedagogía, con estudiantes de otras profesiones y en distintos niveles de formación. Se utilizó un diseño descriptivo y correlacional en el que participaron 260 estudiantes de ambos sexos de una universidad privada de la cuidad de La Serena, Chile. Como instrumento se aplicó la Escala de Actitudes hacia las Personas con Discapacidad de Verdugo, Jenaro y Arias. Los resultados mostraron que la totalidad del alumnado presenta actitudes positivas. En relación con el tipo de carrera y nivel de estudio no se encontraron diferencias estadísticamente significativas. Se puede inferir que los estudiantes presentan una predisposición favorable a comportarse de manera efectiva frente a personas con discapacidad, valorando positivamente sus capacidades y reconociendo sus derechos fundamentales.

  12. Refuerzo de estructuras con composites avanzados

    Directory of Open Access Journals (Sweden)

    Recuero, A.

    1997-12-01

    Full Text Available Restoration, strengthening and rehabilitation of buildings becomes one of the more interesting aspects of the use of composites. Construction industry has not yet accepted the wide structural use of these new materials because it does not know the advantages of composites in comparison with traditional materials, such as concrete or steel. Professionals involved in design and construction are conservative and resist to changes. They require codes and specifications, what makes that an entity should lead the use of the new material or technology. At present, the experience needed to prepare those codes does not exist. Experimental tests and successful cases are necessary for the acceptance of these materials in construction. In this work, an introduction to the subject is done and notice is given of a project which is developing with the aim to provide the experimental basis, needed to update design codes and standards, and the technology for the use of these new composites in building and civil structures strengthening, taking actual pathology, quality and durability into account, as well as urban aesthetics. Research specialists in composites, structural analysis and testing, and in structural pathology, as well as composites and adhesives manufacturers and appliers, designers and final users will cooperate in this project. This will allow that all relevant aspects of the problem be considered.

    La restauración, refuerzo o rehabilitación de estructuras resulta ser uno de los campos de aplicación de mayor interés y más directamente relacionado con los nuevos materiales compuestos. La Industria de la Construcción no ha aceptado aún el uso estructural extenso de los nuevos materiales compuestos, porque todavía no conoce bien cuándo existen ventajas respecto a los materiales tradicionales, tales como el hormigón o el acero. Los profesionales implicados en el proyecto y en la ejecución de obras suelen ser conservadores y resistirse

  13. Acometer contra un ERP con Software Libre

    Directory of Open Access Journals (Sweden)

    Esteban Crespo

    2018-03-01

    Full Text Available La seguridad de la información es una preocupación creciente en empresas y organizaciones, siendo más alta aun cuando se vincula a plataformas financieras donde existe información sensible. Este artículo resume las técnicas utilizadas en el pentesting realizado al software ERP desarrollado en APEX 5 por la Universidad del Azuay; para ello se han contemplado seis etapas que sugiere una prueba de penetración: i la conceptualización, donde se define el alcance de las pruebas a realizar; ii la preparación del laboratorio, en la que se identifican algunas de las herramientas que servirán para el inicio de las pruebas de seguridad; iii la obtención de información, donde se hace el reconocimiento y escaneo de posibles objetivos que posteriormente serán explorados con mayor profundidad para identificar características intrínsecas que puedan ser aprovechadas; iv el análisis de las vulnerabilidades encontradas en la etapa anterior; v la explotación de vulnerabilidades; y vi la post explotación, etapa que contempla la destrucción de evidencias del ataque y la conservación de la conexión y los accesos logrados para extraer información. Todas estas etapas fueron efectuadas dentro de las instalaciones de la Universidad del Azuay, considerando el ambiente de desarrollo en el que actualmente se encuentra este software.

  14. Pinturas reforzadas con hilos cortos de vidrio

    Directory of Open Access Journals (Sweden)

    Hernández Olivares, Francisco

    2003-04-01

    Full Text Available Current research literature on coatings for building applications make evident the existence of important damage both in outdoors and indoors applications when the paint is used without any reinforcement because of several reasons: the low quality of some paint components, coatings extremely thin, and the unskilful of painters.This article studies the behaviour of some industrial paints for indoors and outdoors applications when reinforced with different gravimetric fractions of dispersable short cut glass fibre yarns. Jt is also studied the support influence (cement mortar, plasterboard and laminated plasterboard and the application method (handy or sprayed. A better performance and durability is obtained for the fractions by weight which are determined for each type of paint, support and application method. Neither the paint colour properties nor the brightness and texture get worse when these gravimetric fractions of glass fibre are added to the paint.La presente investigación estudia la viabilidad del empleo de refuerzos de fibra de vidrio para pinturas de interior y exterior con el fin de paliar parte de las patologías observadas en aplicaciones arquitectónicas. Se ha seleccionado un tipo de fibra de refuerzo dispersable y se ha estudiado el comportamiento de tres tipos de pinturas (temple, plástica y de impermeabilización para fracciones gravimétricas crecientes de refuerzo y distintos procesos de aplicación de la pintura.Se ha conseguido mejorar las propiedades de las pinturas industriales que existen en el mercado para aplicaciones interiores y exteriores en edificación elevando las propiedades mecánicas y de durabilidad de dichas pinturas, sin que ello suponga ningún cambio significativo en las cualidades de la pintura, como son la colorimetría, el brillo y el espesor de película.

  15. Potenciando el aprendizaje proactivo con ILIAS&WebQuest: aprendiendo a paralelizar algoritmos con GPUs

    OpenAIRE

    Santamaría, J.; Espinilla, M.; Rivera, A. J.; Romero, S.

    2010-01-01

    Arquitectura de Computadores es una asignatura troncal de segundo ciclo de la titulación de Ingeniería de Telecomunicación (P.E. 2004) de la Universidad de Jaén, que desde el curso académico 2009/10 cuenta con una metodología de aprendizaje proactivo para motivar al alumno en la realización de las prácticas. En concreto, se ha abordado la enseñanza de la materia de paralelización de algoritmos haciendo uso de GPUs de tarjetas gráficas convencionales. Además, se ha d...

  16. Estudio comparativo del tiro: balonkorf con dos manos; baloncesto con una mano

    OpenAIRE

    García Pérez, Leontino

    1982-01-01

    Hace cuatro años, por motivos profesionales, llegué a Estepona, villa malagueña de la Costa del Sol; (lugar donde resido). En dicha zona conocí un deporte nuevo para mí, un deporte nuevo pero que tenía características parecidas a deportes conocidos y con el gran atractivo de ser un deporte mixto, y por esta causa lo podían jugar todos los alumnos de una clase, grupos de amigos, familiares, etc. La práctica del Balonkorf en la Costa del Sol y especialmente en los municipios de Estepona, F...

  17. Departamento de relaciones con el entorno : Llanogas, un compromiso social con la región

    OpenAIRE

    Rodríguez Jaramillo, Catalina

    2013-01-01

    El documento a continuación presenta una de las estrategias formuladas para mitigar las causas del conflicto generado entre Llanogas, empresa privada de servicios públicos del departamento del Meta, Colombia (distribuidora de gas), y la comunidad perteneciente a los municipios de su área de influencia. La estrategia consiste en diseñar e implementar un departamento de relaciones estratégicas con el entorno. El document a continuació presenta una de les estratègies formulades per mitigar le...

  18. Programa de entrenamiento en habilidades sociales con personas mayores con discapacidad auditiva y visual leve

    OpenAIRE

    García Carracedo, Laura

    2014-01-01

    A partir de la hipótesis de que la mejora en habilidades sociales va a repercutir en mejorar la calidad de vida de las personas mayores, se ha desarrollado un programa de intervención dirigido a personas mayores con discapacidad auditiva y visual leve procedentes de la residencia “Casa Beneficencia” situada en la calle camino del cementerio en Valladolid. En el presente trabajo hemos utilizado diversas técnicas para la recogida de información previa y posterior diagnóstico de las necesidad...

  19. Síndrome coronario agudo con supradesnivel del ST asociado al feocromocitoma con las catecolaminas inicialmente normales

    Directory of Open Access Journals (Sweden)

    Jorge M. Pacheco

    2016-01-01

    Full Text Available Los feocromocitomas son tumores secretores de catecolaminas que cursan con paroxismos de hipertensión o hipotensión arterial y palpitaciones. Son una causa rara del síndrome coronario agudo. Presentamos el caso de una paciente con síndrome coronario agudo secundario a feocromocitoma que inicialmente tenía valores normales de catecolaminas.

  20. Síndrome coronario agudo con supradesnivel del ST asociado al feocromocitoma con las catecolaminas inicialmente normales

    OpenAIRE

    Pacheco, Jorge M.; Pérez Baztarrica, Gabriel; Díaz Bozio, Fernando; Jiménez, Andrés; Porcile, Rafael

    2016-01-01

    Los feocromocitomas son tumores secretores de catecolaminas que cursan con paroxismos de hipertensión o hipotensión arterial y palpitaciones. Son una causa rara del síndrome coronario agudo. Presentamos el caso de una paciente con síndrome coronario agudo secundario a feocromocitoma que inicialmente tenía valores normales de catecolaminas.

  1. Peso y talla en niños con retinoblastoma

    Directory of Open Access Journals (Sweden)

    Cecilia Ridaura-Sanz

    2015-03-01

    Full Text Available Introducción: la talla baja se ha descrito como característica clínica de niños con retinoblastoma. Esta particularidad puede estar relacionada directamente con la enfermedad de base o con factores externos.  Objetivo: el propósito de esta investigación fue conocer la frecuencia de talla y peso bajos en niños mexicanos con retinoblastoma y correlacionar los valores antropométricos con variables de la enfermedad y ambientales. Materiales y métodos: se analizaron expedientes clínicos de 346 pacientes con retinoblastoma. Se obtuvieron los datos de peso y talla referidos al ingreso; antes del tratamiento. Se comparó el valor de Z con las referencias de la distribución normal de la población mexicana. La asociación de las medidas antropométricas con las variables clínicas, sociales y genéticas se estableció con la prueba de c2. Resultados: la talla y el peso promedio de los niños con retinoblastoma fueron significativamente más bajos que los de la población general (p < 0.001 y p = 0.013, respectivamente. La talla y peso bajos fueron más frecuentes en niños con enfermedad avanzada, provenientes de medio rural y de bajo nivel socioeconómico. Conclusiones: los déficits en peso y talla en niños con retinoblastoma se deben a factores relacionados con enfermedad avanzada al momento del diagnóstico, lo cual a su vez es consecuencia de la situación de marginación de la población rural mexicana. Dado que la mayoría de las variables sociales y ambientales están muy relacionadas y que no podemos descartar posibles factores genéticos, las conclusiones de este estudio deben verificarse analizando las medidas de los padres y hermanos y establecer grupos comparativos para controlar las variables confusas.

  2. Linealizacion por realimentacion constructiva de sistemas mecanicos con grado de subactuacion 1 inestables con friccion

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    M. López-Martínez

    2007-10-01

    Full Text Available Resumen: En los últimos años se han desarrollado diversos métodos para controlar sistemas mecánicos subactuados. De hecho, dichos métodos no lineales han conseguido resolver problemas muy interesantes desde el punto de vista de control. Sin embargo, para obtener una solución con estos métodos, normalmente es necesario resolver un sistema de ecuaciones diferenciales en derivadas parciales, lo cual no siempre es posible. En este artículo, se presenta una metodología constructiva para diseñar un controlador para una clase de sistemas mecánicos inestables en bucle abierto y con grado de subactuación uno. Para el diseño se emplean principalmente las técnicas de linealización por realimentación y Lyapunov. La metodología consiste en proponer una salida ficticia que se pueda rediseñar de forma constructiva para resolver el problema planteado, dando lugar a una ley de control explícita, que permite tener en cuenta la fricción incluso en las coordenadas no actuadas.

  3. Estudio “Cumple con SAM”

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    Escribá MP

    2009-06-01

    Full Text Available INTRODUCCIÓN Existen estudios que demuestran los beneficios de los sistemas personalizados de dosificación para aumentar la adherencia al tratamiento en pacientes polimedicados. Recientemente se puso en el mercado un sistema de administración de medicamentos (SAM, portable y de pequeño tamaño, que combina un reloj con alarmas programables y varios compartimentos en donde colocar las formas farmacéuticas de los medicamentos. Para la valoración de su utilidad se ha realizado un estudio piloto de satisfacción sobre el SAM entre los pacientes diana de estos dispositivos, solicitando, tras un breve período de uso, su opinión sobre las características del mismo. Se ha evaluando también la mejora del cumplimiento. MATERIAL Y MÉTODOS 43 farmacéuticos comunitarios voluntarios de 26 oficinas de farmacia ubicadas en 5 provincias reclutaron sobre la base de unos criterios de inclusión y exclusión 302 pacientes incumplidores para que utilizasen durante al menos 15 días el SAM y, posteriormente, rellenasen una encuesta de opinión sobre éste. RESULTADOS La opinión del 91% de los pacientes participantes en el estudio es que el SAM es útil, muy útil o imprescindible como sistema de administración de medicamentos. El incumplimiento autocomunicado pasa del 87% al 23% de pacientes. El SAM puede ser útil para los pacientes como sistema de administración de medicamentos en la mejora de la adherencia a su tratamiento farmacológico en la medida en que disminuye los olvidos. Sin embargo, también ponen de manifiesto algunos problemas de diseño mejorables como son el excesivo tamaño, dificultad de apertura e intensidad del sonido. Estos dos últimos problemas dificultan su uso entre la población de mayor edad.

  4. In volo con l’occhio termico

    Directory of Open Access Journals (Sweden)

    Emanuele De Angelis

    2012-04-01

    Full Text Available Il Laboratorio di Meccanica del Volo (MDVLab dell’Università di Bologna nasce nel 2006 presso la Seconda Facoltà di Ingegneria e la sua attività di ricerca riguarda principalmente problematiche di modellazione, simulazione e controllo del volo atmosferico e spaziale. Un'intensa collaborazione con l’Istituto Nazionale di Geofisica e Vulcanologia (INGV  ha consentito di estendere le proprie conoscenze al di fuori del settore aerospaziale, presentando oggi un’ampia offerta di tecnologie per l’Osservazione della Terra nell'ambito di progetti in cui MDVLab è coinvolto insieme ad INGV per l’impiego di velivoli non abilitati per applicazioni di gestione del rischio sismico, vulcanico ed ambientale. Flight testing with thermal cameraRemote sensing from satellites or aircraft represents an impor-tant tool for the monitoring and management of catastrophic events. For some rapidly  evolving phenomena (e.g. volcanic events,  wildfires    they  both  show  two  relevant    limits:  long revisiting time (satellites and the high cost and high human risk for monitoring. Unmanned Aircraft Veicle (UAV because of their autonomous flight and  real time telemetry transmis-sion   offer a good solution to these limitations.To explore the operational aspects of such UAV deployments for example in volcanology, INGV in partnership with MavLab department of University of Bologna (Unibo developed  a UAV system and actually are carrying on integration  studies  and testing of sci-entific payloads. The payload is thermal camera. it has a  light weight of 67.5g while the spectral response  is in the 7-14mi-cron spectral range.  The integration activities, the on board installation and  results of the first in flight thermal acquisition experiment realized on July 30 2011, in Italy, are presented.

  5. Retinitis por citomegalovirus en un paciente con VIH

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    Alena de los Ángeles Vejerano Duany

    Full Text Available La retinitis por citomegalovirus es la infección ocular más frecuente en pacientes con un recuento de linfocitos CD4 inferior a 200 por µL. El aspecto oftalmoscópico de las lesiones se caracteriza, en la mayoría de los casos, por infiltrados retinianos resultados de la necrosis retiniana producida por citomegalovirus y el edema en asociación con hemorragias. Estas lesiones se disponen, por lo general, siguiendo las arcadas vasculares temporales con invasión hacia la mácula. Se presentó una paciente de 24 años de edad, femenina, blanca, ama de casa, con antecedentes patológicos personales oculares sin datos de interés, y antecedentes patológicos personales generales de ser diagnosticadas con VIH. Hace cuatro años que comenzó con tratamiento antirretroviral, y tuvo cambios de tratamiento en dos ocasiones. El último fue impuesto en mayo del año 2011, con el cual presentó mala adherencia terapéutica, y comenzó desde entonces a presentar disminución de su peso corporal de forma marcada en breve período de tiempo. Refiere que desde hace unos meses comenzó a presentar una disminución progresiva de la agudeza visual en el ojo derecho, acompañado de visión borrosa. Adquiere gran importancia este caso, ya que ante la supervivencia de los pacientes con sida, va a ser cada vez más frecuente la aparición de las afecciones oculares relacionadas con esta enfermedad. Dentro de ellas se encuentran las infecciones oportunistas mayores como la retinitis por citomegalovirus.

  6. Caracterización de una delta endotoxina mutante de Bacillus thuringiensis con estabilidad y toxicidad aumentadas

    Directory of Open Access Journals (Sweden)

    A. Hussain Syed Rehan

    2012-06-01

    participación en la función tóxica del residuo Histidina 168 (H168 –el cual es altamente conservado– fue estudiada mediante técnicas de biología molecular, electrofisiología y biofísica. La toxina mutante H168R fue ~ 3 veces más tóxica que la toxina silvestre (ts en Manduca sexta, mientras que H168Q fue 3 veces menos tóxica. Los análisis espectroscópicos indicaron que las mutaciones no producen alteraciones estructurales significativas y que la toxina H168R (Tm= 59 °C es más estable que las toxinas H168Q (Tm= 57.5 °C y wt (Tm= 56 °C. Las tres toxinas exhibieron uniones de afinidad similares (Kcom en vesículas de intestino de larvas de insecto, indicando que las diferencias en la toxicidad no se deben a cambios en la unión inicial al receptor. Los ensayos de unión/disociación y fijación de voltaje mostraron que la reducción de la toxicidad de la toxina H168Q se puede atribuir a una disminución en la inserción y/o en la formación de canales iónicos. De otro lado, H168R mostró una inhibición a la corriente de corto circuito mayor que la ts y un aumento en unión irreversible (kobs, lo cual es consistente con un menor valor de CL50. La modelación molecular sugiere que H168Q y H168R forman puentes de hidrógeno adicionales, lo que les confiere mayor estabilidad térmica. Adicionalmente, es probable que H168R tenga una carga positiva extra expuesta en la superficie, lo cual aumentaría su tasa de inserción en membranas susceptibles.   Palabras clave: a-hélice 5; dicroísmo circular; modelamiento molecular; mutagénesis sitio dirigida; estabilidad térmica; Bacillus thuringiensis

  7. Crema dental con manzanilla, efecto estomatológico

    OpenAIRE

    Estela Gispert Abreu; . Elena Cantillo Estrada; . Aracelys Rivero López; Berta Oramas Rodríguez

    1998-01-01

    Se plantea que la manzanilla tiene propiedades antiinflamatorias y antisépticas. Se evaluó el efecto estomatológico del cepillado con una crema dental que contiene aceite esencial de manzanilla, una vez al día durante 21 días en 27 niños de 10 años de edad, y en otros 23 niños que se cepillaron con una crema dental placebo. Entre los grupos no existían al inicio diferencias significativas en los parámetros evaluados. El grupo cepillado con la crema dental de manzanilla redujo significativamen...

  8. Composiciones conservantes de aceitunas con actividad antifúngica

    OpenAIRE

    Bautista-Gallego, J.; Arroyo López, Francisco Noé; Garrido Fernández, A.; García García, Pedro; López-López, Antonio; Rodríguez-Gómez, Francisco J.

    2010-01-01

    [ES] La presente invención se refiere a nuevas composiciones conservantes de aceitunas con actividad antiñmgica que comprenden: a. cloruro sódico; b. al menos un ácido con propiedades conservantes; y c. al menos una sal de cinc. Además la presente invención se refiere al procedimiento para la conservación de alimentos mediante dichas composiciones con actividad antiñmgica y al uso de la composición para la conservación de aceitunas frente a microorganismos del reino fungí.

  9. Fauna de mosquitos asociada con Aedes aegypti en Guaduas, Colombia

    Directory of Open Access Journals (Sweden)

    Víctor Alberto Olano

    1993-06-01

    Full Text Available Durante un estudio sobre la ecología del Aedes aegypti llevado a cabo en el área urbana de Guaduas, Colombia, se hallaron un total de siete especies de mosquitos que compartían hábitats con esta especie. Los criaderos en los cuales se encontró un mayor número de mosquitos asociados con el Aedes aegypti fueron los tanques bajos (albercas. Larvas de Toxorhynchites spp. se encontraron en tanques elevados. Se discute la importancia de estos hallazgos con relación a los aspectos de ecología y control del Aedes aegypti.

  10. Uso del material manipulativo para alumnos con necesidades educativas

    OpenAIRE

    Rej??n Segura, Almudena

    2014-01-01

    Este trabajo presenta el estudio del caso de una alumna de 12 a??os con discapacidad intelectual con la utilizamos un material manipulativo, material multibase, para facilitar la adquisici??n de parte de los contenidos matem??ticos que corresponden a su nivel de competencia curricular. Para ello hemos llevado a cabo una intervenci??n que const?? de una evaluaci??n inicial, 7 sesiones y una evaluaci??n final. Cada sesi??n ten??a actividades de distintos tipos de acuerdo con los contenidos del ...

  11. Desafío con wssv bajo fluctuaciones de temperatura

    OpenAIRE

    Sonnenholzner, Stanislaus

    2002-01-01

    Desafío con WSSV bajo fluctuaciones de temperatura En trabajos anteriores sobre el efecto de la temperatura del agua sobre la supervivencia del camarón infectado con el virus de la Mancha Blanca, se demostró que una temperatura constante de 33ºC por 8 días genera una respuesta inmune en el camarón correlacionada a una supervivencia superior al 90%, lo cual se tradujo posteriormente en una propuesta práctica de cultivo de camarón en estanques con invernaderos, actualmente en evaluación e...

  12. Estilos de crianza en familias monoparentales con hijos únicos

    OpenAIRE

    Vásquez Fajardo, Valeria Tatiana

    2015-01-01

    La investigación tiene por objetivo determinar los estilos de crianza de las familias monoparentales con hijos únicos y su estructura familiar. Los padres son quienes cumplen con las funciones de protección, control, orientación, afecto y socialización. Los estilos de crianza se relacionan con la estructura familiar: jerarquía, límites, alianzas y comunicación. Las transformaciones sociales y económicas han cambiado la estructura, de familia nuclear a familia monoparental, así como la planifi...

  13. LA MOTRICIDAD EN NIÑOS CON NECESIDADES EDUCATIVAS ESPECIALES

    OpenAIRE

    Arias-Chaves, Melissa

    2012-01-01

    Este trabajo se ha realizado con el propósito de evaluar la motricidad de siete niños con necesidades educativas especiales, así como algunos aspectos de su escritura para proponer después un programa de intervención encaminado a la mejora de estos dos aspectos. En la realización de este trabajo se ha procedido al análisis y síntesis bibliográficas con el objetivo de obtener la información más concreta, y donde se ha ido explicando todo lo relacionado sobre la motricidad en general y en co...

  14. Emociones Negativas en Pacientes con Lumbalgia Crónica

    OpenAIRE

    M.ª Magdalena Truyols Taberner; M.ª Magdalena Medinas Amorós; Javier Perez Pareja; Alfonso Palmer Pol; Albert Sesé Abad

    2010-01-01

    El objetivo ha sido evaluar la ansiedad, depresión e ira en pacientes con dolor lumbar crónico y de un grupo control. Materiales y Método: la muestra incluyó n=54 pacientes y n=51 controles (15 hombres y 39 mujeres) con una media de edad de 49.20 años. Todos fueron evaluados mediante Inventario de Depresión de Beck, el Inventario de Situaciones y Respuestas de ansiedad y el Inventario de Expresión de Ira Estado-Rasgo. Los resultados muestran que los pacientes con lumbalgia crónica obtienen ni...

  15. Mutación fundadora en una familia argentina con cáncer colorrectal hereditario Detection of a founder mutation in an Argentine family with hereditary non polyposis colorectal cancer

    Directory of Open Access Journals (Sweden)

    Laura Gómez

    2010-02-01

    Full Text Available El cáncer colorrectal hereditario no poliposo (CCHNP se relaciona con mutaciones en los genes reparadores de ADN (MLH1, MSH2 y MSH6. La mayoría de estas alteraciones son familia-específicas y su detección suele requerir la secuenciación completa de los genes relacionados. Se detectó una mutación puntual (2269-2270insT en el último codón del gen MLH1 en familias de un área del norte de Italia (Reggio Emilia y su origen se considera debido a un efecto fundador. En este trabajo presentamos una familia mendocina con CCHNP portadora de la misma mutación, cuyos ancestros eran oriundos de Reggio Emilia. Para la detección de la mutación se diseñó una estrategia basada en PCR y posterior corte enzimático. La mutación fue hallada en tres integrantes de la familia estudiada, dos de los cuales no presentaban sintomatología clínica. Estos pacientes fueron seguidos preventivamente mediante colonoscopias. La metodología utilizada en nuestro laboratorio fue específica y sensible para la detección de una mutación previamente registrada y permitió realizar el diagnóstico genético molecular en el país, evitando el envío de muestras al extranjero. Es de importancia destacar que el diagnóstico genético pre-sintomático de cáncer hereditario, enfocado desde un grupo multidisciplinario de profesionales, permite un mejor seguimiento y apoyo a las familias afectadas.Hereditary non polyposis colorectal cancer (HNPCC has been related to mutations in the DNA mismatch repair genes (MLH1, MSH2 y MSH6. Mutation detection analysis requires the complete sequencing of these genes, given the high frequency of family-specific alterations. A point mutation (2269- 2270insT in the last codon of the MLH1 gene has been detected in families from a northern region of Italy (Reggio Emilia.Given that this alteration was registered only in people from this region, it has been considered a founder mutation. In this work, we present an Argentine HNPCC family

  16. Análisis probabilista con caminata al azar del número de personas viviendo con VIH mundialmente

    Directory of Open Access Journals (Sweden)

    Javier Oswaldo Rodríguez-Velásquez

    2018-01-01

    Full Text Available Introducción: El estudio de la dinámica anual de la epidemia de VIH a partir de la caminata al azar ha mostrado ser de utilidad para llevar este fenómeno altamente variable a un comportamiento predecible Objetivo: Predecir el comportamiento de la dinámica del número de personas viviendo con VIH mediante la caminata al azar probabilista. Metodología: Se analizaron los valores anuales de personas que a nivel global viven con VIH desde el año 1990 hasta el 2009, a partir de los espacios de probabilidad generados con la caminata al azar probabilista, para posteriormente desarrollar la predicción del valor anual de personas viviendo con VIH para los años 2010, 2011 y 2012. Resultados: Se predijeron los valores anuales de personas viviendo con VIH con un porcentaje de acierto de 98,95% para el año 2010, de 98,82% para el año 2011 y de 98,99% para la predicción realizada para el año 2012. Conclusiones: Se establecieron órdenes matemáticos a partir de la caminata al azar probabilista, estableciendo predicciones prácticamente deterministas del número de personas viviendo con VIH, lo que podría ser útil para las decisiones en Salud Pública y para la evaluación de intervenciones.

  17. Impacto del Tratamiento con Teriparatida en la Calidad de Vida de las Personas con Osteoporosis

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    Marta Osca Guadalajara

    2015-01-01

    Full Text Available La pérdida ósea en pacientes osteoporóticos, conlleva riesgo de fracturas, dolor óseo vertebral y disminución de la calidad de vida. El objetivo de este trabajo fue analizar el efecto de la teriparatida (TPTD en pacientes osteoporóticos y con dolor vertebral. Métodos: Estudio observacional longitudinal prospectivo, entre abril de 2006 y febrero de 2014, en los 77 pacientes tratados con TPTD en la Unidad del Dolor del Hospital de Teruel. La duración del tratamiento fue de 18 o 24 meses. Se utilizó la Escala Visual Analógica (EVA para la medición del dolor y el cuestionario europeo de calidad de vida (EuroQol-5D para obtener la tarifa social (TS, antes y después el tratamiento. Se realizó un análisis descriptivo, de regresión lineal y logística. Resultados: Se observó una mejoría del dolor (80% y de la calidad de vida (65 %. Se mejoró la EVA media (5,42 a 3,47 puntos y el EuroQol-5D (0,36 a 0,58 puntos. La regresión indicó una mejora de la EVA en 0,441 puntos por cada punto de EVA inicial, y de la TS en 0,0528 puntos por cada 0,1 puntos de TS inicial. La probabilidad de mejorar la EVA en 3 puntos (OR=2,021, fue mayor que de mejorar 2 puntos (OR=1,695. Conclusiones: La TPTD en pacientes osteoporóticos reduce el dolor óseo y mejora la calidad de vida. Su efecto es mayor en pacientes con peor estado de salud inicial, pudiendo ser utilizado como criterio para las decisiones terapéuticas y de gestión clínica.

  18. Mastopexia con prótesis: técnica triplanar con colgajo en cola de pez para mamas con pobre calidad de cobertura

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    M. Berrocal-Revueltas

    2013-12-01

    Full Text Available La mastopexia con implantes de silicona, es uno de los procedimientos más frecuentes en la práctica diaria en Cirugía Plástica. Sin embargo, la pobre calidad de la cobertura de las mamas, relacionada con piel estriada, escaso tejido subcutáneo y pérdida del parénquima mamario secundarios a la lactancia prolongada y a la pérdida masiva de peso, son causa del incremento progresivo de resultados insatisfactorios a medio y largo plazo que han sido evaluados, analizados y discutidos por los especialistas. Los resultados insatisfactorios más frecuentes en mastopexia con implantes en posición retromuscular son: doble contorno mamario, asimetrías y desplazamiento de los implantes. Los objetivos del presente estudio son: describir el nuevo método triplanar como alternativa útil para lograr mejores resultados en pacientes con mala calidad de cobertura y analizar los resultados obtenidos con el mismo. Realizamos un estudio observacional, descriptivo, prospectivo, en un grupo de 268 pacientes con diagnóstico de ptosis mamaria con hipotrofia y mala calidad de cobertura por piel estriada, escaso tejido celular subcutáneo y pérdida del parénquima mamario, secundarios a lactancia prolongada y pérdida masiva de peso, entre otros, a las que se les practicó mamoplastia de aumento con implantes de silicona mediante la aplicación del método triplanar descrito por la autora, entre enero del 2004 y enero del 2013 en el Hospital de Bocagrande de Cartagena, Colombia. El diseño de la técnica se basa en los principios de cicatriz vertical descrita por Lassus o Lejour o mediante cicatriz en "J", descrita por la autora. El método triplanar se basa en tres planos de cobertura del implante. Plano I: submuscular, para cubrir los dos tercios superiores del implante. Plano II: colgajo dermoglandular con dos prolongaciones distales triangulares de tejido adiposo, en forma de pez, para cubrir el tercio inferior del implante y el borde libre del m

  19. Intubación de paciente despierto con fibroscopio rígido bajo sedación con remifentanil

    OpenAIRE

    Bocanegra, Juan Carlos; Ríos Medina, Ángela María; Aguirre Ospina, Óscar David

    2010-01-01

    Introducción. Al elegir el manejo de un paciente con vía aérea difícil, conocida o sospechada, es importante plantearse alternativas de intervención. Varios algoritmos de manejo, recomiendan la intubación con paciente despierto, con laringoscopia directa o instrumentos ópticos. Los estiletes rígidos y semirrígidos son dispositivos ópticos desarrollados para el manejo de la vía aérea difícil, que han mostrado ser rápidos, atraumáti-cos y confiables. Objetivos. Describir el uso de diferentes es...

  20. Terapia asistida con perros en niños con autismo revisión sistemática

    OpenAIRE

    Isaza Narváez, Ana Milena; Muñoz Chilito, Doumer Adrian

    2013-01-01

    Introducción: El autismo es un trastorno temprano y masivo del desarrollo en el cual se afecta la interacción social, el desarrollo del lenguaje, se presentan rituales y estereotipias. Hay evidencia que la interacción con un perro está asociada con efectos positivos en la salud del niño, lo cual se extiende al terreno terapéutico donde la compañía del perro estimula habilidades comunicativas para conectarse con el mundo exterior y romper el aislamiento que lo hace refractario a formas convenc...

  1. Mi palabra favorita. Una actividad con vídeo

    Directory of Open Access Journals (Sweden)

    Susana Cañuelo Carrión

    2011-01-01

    Full Text Available Mi palabra favorita es un actividad que surge a partir de la propuesta que realiza el Instituto Cervantes con la web El día E (www.eldiae.es. Este portal fue creado en conmemoración del día del español, que se celebra desde 2009 el último sábado de junio. Para festejar la vitalidad de la lengua y el interés mundial que despierta, hablantes y aprendientes de todo el mundo pueden explicar en dicho portal cuál es su palabra favorita. Y pueden hacerlo con un texto, con un pictograma o con un vídeo.

  2. La evaluación de las personas con autismo

    Directory of Open Access Journals (Sweden)

    Ronald Soto Calderón

    2001-01-01

    Full Text Available Este artículo pretende brindar elementos básicos que deben ser utilizados en el desarrollo de procesos de evaluación de personas con autismo, la idea es ir dando sentido al diagnóstico realizado por los profesionales, e ir desarrollando estrategias compartidas tanto por docentes (principalmente de Educación Especial como a psicólogos y otros profesionales involucrados en el trabajo de personas con autismo, de tal manera que se le dé la importancia que se persigue con el trabajo en equipo. Este artículo es una primera parte donde se abordan conceptos y aspectos generales del diagnóstico, posteriormente se hará referencia a técnicas y métodos específicos utilizados en el diagnóstico de personas con autismo

  3. Carcinoma tricofolicular con capacidad metastásica

    Directory of Open Access Journals (Sweden)

    C.B. Pinilla-Martínez

    2015-03-01

    Full Text Available El carcinoma folicular es un tumor maligno derivado del folículo piloso. La mayor parte de los tumores foliculares son benignos, pero en los últimos años se han publicado casos aislados de tumores anexiales con características de malignidad y con una gran agresividad local siendo en principio tumores que se consideraban benignos. Creemos que este tumor está siendo infradiagnosticado, y como consecuencia, infratratado al ser confundido con otros tumores malignos originados en la piel, como el carcinoma basocelular y sobre todo con el carcinoma epidermoide, en parte por poca documentación y por la dificultad para su diagnóstico anatomopatológico. Presentamos un caso de carcinoma tricofolicular en cuero cabelludo en una mujer de 51 años de edad que rápidamente invade sistema nervioso central y que en solo 3 meses metastatiza a pulmón.

  4. Hacia una educación con igualdad de oportunidades para personas con discapacidad

    Directory of Open Access Journals (Sweden)

    Rocio Molina Béjar

    2006-04-01

    Full Text Available El propósito de este texto es presentar las diferentes experiencias de países y universidades que han implementado programas de apoyo al estudiante con discapacidad. Se subraya la importancia de los marcos legales que, desde el principio de igualdad de oportunidades, se han decretados para esta población y se sustenta que su aplicabilidad es clave para la inclusión académica de este grupo de estudiantes. Para Colombia es de suma importancia capitalizar los esfuerzos de la comunidad mundial en el cumplimiento de las políticas en educación superior. Se reconoce que éste es un proceso lento pero plausible e implica materializar y divulgar los resultados del proceso de inclusión educativa.

  5. Evaluación de uniones soldadas obtenidas con fundentes fundidos desarrollados con minerales cubanos

    Directory of Open Access Journals (Sweden)

    Gilma Castellanos-Hernández

    2000-03-01

    Full Text Available En este artículo se hace una caracterización integral de las uniones soldadas obtenidas en acero ct-3, correspondientes al estudio del prototipo de fundente fundido CIS-F10 para la soldadura automática bajo arco sumergido (SAW. Se muestran los resultados del análisis químico del metal de la unión soldada, así como los ensayos mecánicos de tracción longitudinal y resiliencia, según la norma AWS A5: 17. Se incluyen además las muestras metalográficas correspondientes. Los resultados son comparables con los obtenidos empleando fundentes comerciales AS 200 y AH 348.

  6. Aprendizajes en sincronía con la vida

    Directory of Open Access Journals (Sweden)

    Flor Abarca-Alpízar

    2017-08-01

    Full Text Available Como humanidad sufrimos la desconexión y separación con la vida toda. Esta ruptura impuesta por el paradigma mecanicista predominante en los últimos cuatrocientos años, nos ha llevado a olvidar la visión holista promovida por las culturas originarias y ancestrales. Esta situación prevalece también en los sistemas educativos dominados por la enseñanza memorística y fragmentada, alejada de la vida, del ser y sentir de las personas aprendientes. Para la superación de la crisis planetaria actual es urgente recuperar la visión holista de la vida y del aprendizaje, para lo cual los procesos docentes universitarios son claves para la formación de personas profesionales comprometidas con la plenitud de la vida sobre la tierra. El sentido de este ensayo es reflexionar sobre la importancia que tiene para la superación de la crisis planetaria actual la recuperación de nuestra conectividad con la vida del planeta tierra en sincronicidad con los aprendizajes, porque los procesos vitales y los procesos de aprendizaje son la misma cosa. Este ensayo está organizado en tres momentos. El primero parte del intercambio de seres, saberes, sentires y experiencias para recuperar nuestra conexión perdida con la vida en nuestro planeta tierra. Un segundo momento donde presentamos reflexiones y conceptualización por medio de la construcción colectiva de conocimientos, con apoyo de personas especialistas en la visión holista y los procesos de interaprendizaje, necesarios para salvar la vida toda. El tercer momento de este ensayo está elaborado con propuestas, claves, signos y señales para la conexión de los procesos vitales en sincronía con los procesos de aprendizaje necesarios en los tiempos actuales.

  7. Empatia e relazione con Dio in Edith Stein

    OpenAIRE

    Betschart, Christof

    2016-01-01

    Introduzione 1. La conoscenza intersoggettiva nella tesi sull’empatia 1.1 L’empatia nella relazione con Dio 1.2 L’empatia né fusione, né separazione 1.3 L’empatia senza mediazione corporea? 2. Scientia Crucis 2.1 L’empatia nella relazione storica con Dio 2.2 L’empatia chiama l’amore 2.3 L’empatia rispetto al Verbo incarnato Conclusione

  8. Cómo realizar tests de usabilidad con personas ciegas

    OpenAIRE

    Ribera, Mireia; Térmens i Graells, Miquel; García-Martín, Maika

    2008-01-01

    Se presentan una serie de recomendaciones prácticas para realizar tests de usabilidad con personas ciegas. Tanto la planificación, como la ejecución y el análisis posterior son comentados en detalle para aconsejar un conjunto de buenas prácticas. El artículo finaliza con algunas reflexiones críticas sobre la pretendida discapacidad de los usuarios ciegos.

  9. Sintomatología depresiva en pacientes con fibromialgia

    Directory of Open Access Journals (Sweden)

    Vanessa Moreno

    2010-03-01

    Full Text Available Introducción: La fibromialgia es una entidad frecuente en la práctica clínica y se ha considerado que está asociada con desórdenes psiquiátricos, en particular con depresión, lo cual podría tener un impacto en el tratamiento de esta entidad. Objetivo: Evaluar la prevalencia de síntomas depresivos en pacientes con fibromialgia. Diseño: Estudio observacional y de tipo transversal. Lugar: Servicio de Reumatología, Hospital Departamental María Auxiliadora. Participantes: Pacientes de ambos sexos con diagnóstico de fibromialgia. Intervenciones: Se utilizó la escala de Hamilton para la depresión (HDRS y el recuento de puntos dolorosos para fibromialgia. Principales medidas de resultados: Porcentaje de pacientes con síntomas depresivos. Puntaje total de la HDRS en relación al recuento de puntos dolorosos. Resultados: La edad promedio fue 54,9 ± 14 años, 80% fue del sexo femenino y el número promedio de puntos dolorosos, 14,4 ± 1,5. El 32,7% de pacientes no tenía síntomas de ánimo depresivo, en 27,7% los síntomas fueron leves, en 30,9% moderados y solo en 9% severos. Ningún paciente presentó síntomas compatibles con ánimo depresivo muy severo. Encontramos una correlación significativa entre el número de puntos dolorosos y el puntaje de la escala HDRS (r= 0,740, p< 0,001. Conclusiones: Los síntomas depresivos severos se encuentran en una proporción baja en pacientes con fibromialgia y parecen estar directamente asociados con el número de puntos dolorosos.

  10. Control Multivariable Centralizado con Desacoplo para Aerogeneradores de Velocidad Variable

    Directory of Open Access Journals (Sweden)

    Miguel E. González

    2010-10-01

    Full Text Available Resumen: El diseño de sistemas de control para aerogeneradores de velocidad variable representa un reto importante ya que se trata de procesos multivariables no lineales, con fuertes perturbaciones, diversas restricciones y gran interacción entre sus variables. Bajo este escenario se debe generar eficientemente la potencia eléctrica y al mismo tiempo regular la velocidad de giro de la turbina. En este trabajo se proponen varios esquemas de control multivariable, con el objetivo de mejorar el rendimiento de los aerogeneradores atenuando los efectos de la interacción entre sus variables. La solución propuesta se basa en controladores PID con diseños del tipo descentralizado, centralizado con diversas redes de desacoplo y un esquema con cuatro PI. El comportamiento del aerogenerador se describe mediante un modelo matemático no lineal, que se linealiza para obtener una matriz de funciones de transferencia, a partir de la cual se diseñan los controladores. Finalmente se realiza un análisis comparativo para determinar qué controlador presenta mejores resultados, aplicando perturbaciones con un modelo de la velocidad del viento y cambios aleatorios de la carga eléctrica. Palabras Clave: Aerogenerador, Control Multivariable, Modelado e Interacción

  11. Efectividad de la acupuntura con tachuela en afectados por epicondilitis

    Directory of Open Access Journals (Sweden)

    Mercedes Gay Muguercia

    2014-06-01

    Full Text Available Se realizó una intervención terapéutica en 20 pacientes con epicondilitis, remitidos de la consulta de Ortopedia al Departamento de Medicina Natural Tradicional del Hospital Provincial Docente Clinicoquirúrgico "Saturnino Lora Torres" de Santiago de Cuba, de septiembre a diciembre de 2012, con vistas a determinar la efectividad de la acupuntura con tachuela en ellos. Los afectados fueron valorados y, de forma aleatoria, se les distribuyó en 2 grupos de 10 integrantes cada uno: el de estudio, que recibió acupuntura (agujas de 0,2 mm de forma permanente en los puntos Ashi y en el IG-11, y el de control, tratado convencionalmente con antiinflamatorios y analgésicos. Luego de aplicadas las terapias, los pacientes fueron valorados a los 5, 10 y 15 días, teniendo en cuenta el cuadro clínico dado por dolor, inflamación e impotencia funcional. La regresión de los síntomas se evaluó por la escala visual analógica, y se obtuvo una efectividad marcada del tratamiento con acupuntura en relación con el medicamentoso

  12. FERTILIDAD Y EMBARAZO EN PACIENTES CON ENFERMEDADES INFLAMATORIAS INTESTINALES

    Directory of Open Access Journals (Sweden)

    ANDRÉS YARUR U., DR.

    2015-09-01

    Full Text Available Las Enfermedades Inflamatorias Intestinales (EII son entidades crónicas del tracto digestivo, que afectan frecuentemente a pacientes en edad reproductiva. Debido a las características de estas enfermedades y su tratamiento, existen múltiples desafíos. En este artículo, revisamos la evidencia más reciente con respecto a fertilidad y embarazo en pacientes con EII. En general, existe evidencia de que pacientes con EII tienen una mayor tasa de complicaciones durante el embarazo con respecto a pacientes sin EII. Sin embargo, esta diferencia está directamente asociada al grado de actividad de la enfermedad. La mayor parte de los fármacos hoy usados en el tratamiento de EII son considerados seguros durante el embarazo y se recomienda continuarlos, sobre todo considerando que el mayor riesgo de complicaciones está asociado a una enfermedad activa. Sin embargo es importante considerar las opciones caso a caso. Las dos grandes excepciones son metotrexato y talidomida que están completamente contraindicadas. La recomendación más importante es educar a toda paciente con EII en edad reproductiva, explicando que el embarazo debe llevarse a cabo cuando la enfermedad esté controlada y que la probabilidad de complicaciones está relacionada con el grado de actividad y severidad de la EII. Los médicos tratantes deben educar a las pacientes, enfatizando el seguimiento de los controles y tratamiento.

  13. Potenciales evocados somatosensitivos en una poblacion cronicamente intoxicada con plomo

    Directory of Open Access Journals (Sweden)

    O. M. Genovese

    1990-03-01

    Full Text Available Once pacientes con cifras elevadas de plombemia y disminuidas de delta aminolevulínico dehidrasa (ALA D, fueron estudiados mediante la realización de potenciales evocados somatosensitivos obtenidos por estimulación del nervio mediano, midiendo el ingreso medular, el arribo cortical v el tiempo de conducción central (TCC. Los datos fueron comparados con controles. Se correlacionaron con las deterniinaciones bioquímicas y con el tiempo de exposición al tóxico. Por encima dei limite superior control, se encontro el ingreso medular en tres pacientes, el arribo cortical en cuatro y el TCC en tres. Los valores de N13,N20 y TCC no mostraron correlación con los parâmetros bioquímicos ni con el tiempo de exposición al tóxico. Estos hallazgos sugieren que, si bien la neuropatía periférica condiciona el retraso dei ingreso medular y del arribo cortical, es probable que exista también compromiso de la mielina central en algunos de los pacientes crónicamente expuestos.

  14. La autodeterminación en adolescentes con discapacidad intelectual

    Directory of Open Access Journals (Sweden)

    Margarita María Arroyave Palacio

    2009-12-01

    Full Text Available El propósito de esta investigación fue analizar la incidencia que tiene un ambiente de aprendizaje apoyado en la simulación sobre la autodeterminación de un grupo de adolescentes con discapacidad intelectual. Hicieron parte de la muestra 13 adolescentes con similares niveles de desarrollo, de diferentes instituciones educativas del municipio de La Ceja del Tambo, Departamento de Antioquia. Durante ocho meses, con una intensidad de ocho horas semanales, este grupo de adolescentes con discapacidad intelectual participó de un ambiente de aprendizaje apoyado en la simulación virtual y natural. El análisis de los resultados permitió concluir que existe una necesidad sentida para que la familia y las instituciones educativas, generen alternativas para desarrollar y afianzar los niveles de autonomía y expresión personal de los adolescentes con discapacidad intelectual. Los hallazgos de esta investigación abren posibilidades para futuros estudios, encaminadas a determinar cómo desde la implementación de propuestas apoyadas con tecnologías de la información y la comunicación, se pueden reducir factores que tradicionalmente han generado situaciones de exclusión social en esta población.

  15. Tratamiento con trióxido de arsénico en pacientes con leucemia promielocítica aguda

    Directory of Open Access Journals (Sweden)

    Lidia Clara Suárez Beyríes

    2014-01-01

    Full Text Available Se realizó un estudio observacional, descriptivo y transversal de 17 adultos con leucemia promielocítica aguda, atendidos en el Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba durante un quinquenio, con vistas a evaluar la eficacia del tratamiento de inducción con trióxido de arsénico. En la casuística, la remisión hematológica completa se obtuvo en 82,4 % de sus integrantes a los 42,2 días como promedio. Predominaron la hepatotoxicidad y los dolores óseos como reacciones adversas más comunes, así como también las hemorragias severas como causa principal de muerte. Con este tratamiento se logró la incorporación laboral de quienes mejoraron totalmente y la sobrevida global hasta la fecha es de 76,4 %

  16. Soporte social con el uso de tic’s para cuidadores familiares de personas con enfermedad crónica

    OpenAIRE

    Carrillo, Gloria Mabel; Chaparro, Olivia Lorena; Barrera, Lucy; Sanchez, beatriz; Pinto, Raquel Natividad

    2012-01-01

    Objetivo Determinar la efectividad del soporte social dado con el uso de tecnologías de la información y la comunicación (TIC’S) a los cuidadores familiares de personas con enfermedad crónica.  Material y Métodos. Estudio descriptivo, exploratorio realizado en Bogotá en 2008 y 2009 con 144 cuidadores familiares de personas con enfermedad crónica  que constó de tres etapas para su desarrollo: 1. Planeación, diseño de la TIC’s,  aplicación de  prueba piloto y  selección de  población objeto;  ...

  17. PULPOTOMIA CON HIDROXIDO DE CALCIO CON MATERIAL DE SELLAJE EN CAVIDADES CURADAS DESPUES DE 2 AÑOS

    OpenAIRE

    Gruythuysen, Rene J.M.; Weerheijm, Karín L.

    2014-01-01

    El hidróxido de calcio entre otros han sido usados por mucho tiempo en la odontología debido a sus propiedades antibacterianas y a su favorable biocompatibilidad cuando se compara con otros agentes antibacteriales. El hidróxido de calcio entre otros han sido usados por mucho tiempo en la odontología debido a sus propiedades antibacterianas y a su favorable biocompatibilidad cuando se compara con otros agentes antibacteriales.

  18. Adolescentes con autolesiones e ideación suicida: un grupo con mayor comorbilidad y adversidad psicosocial

    OpenAIRE

    Mayer Villa, Pablo Adolfo; Morales Gordillo, Nadia; Victoria Figueroa, Gamaliel; Ulloa Flores, Rosa Elena

    2016-01-01

    La creciente prevalencia de conductas suicidas en adolescentes se ha convertido en un problema de salud pública. Existen varios factores asociados con este tipo de conductas, tales como: síntomas depresivos y ansiosos, consumo de sustancias nocivas, trastornos de conducta, violencia familiar, negligencia y abuso sexual en la infancia. Otro factor importante que se asocia con la presencia del comportamiento suicida son las autolesiones, las cuales pueden definirse como conductas deliberadas de...

  19. Planificación Neuroquirúrgica con Software Osirix

    Science.gov (United States)

    Jaimovich, Sebastián Gastón; Guevara, Martin; Pampin, Sergio; Jaimovich, Roberto; Gardella, Javier Luis

    2014-01-01

    Introducción: La individualidad anatómica es clave para reducir el trauma quirúrgico y obtener un mejor resultado. Actualmente, el avance en las neuroimágenes ha permitido objetivar esa individualidad anatómica, permitiendo planificar la intervención quirúrgica. Con este objetivo, presentamos nuestra experiencia con el software Osirix. Descripción de la técnica: Se presentan 3 casos ejemplificadores de 40 realizados. Caso 1: Paciente con meningioma de la convexidad parasagital izquierda en área premotora; Caso 2: Paciente con macroadenoma hipofisario, operada previamente por vía transeptoesfenoidal en otra institución con una resección parcial; Caso 3: Paciente con lesiones en pedúnculo cerebeloso medio bilateral. Se realizó la planificación prequirúrgica con el software OsiriX, fusionando y reconstruyendo en 3D las imágenes de TC e IRM, para analizar relaciones anatómicas, medir distancias, coordenadas y trayectorias, entre otras funciones. Discusión: El software OsiriX de acceso libre y gratuito permite al cirujano, mediante la fusión y reconstrucción en 3D de imágenes, analizar la anatomía individual del paciente y planificar de forma rápida, simple, segura y económica cirugías de alta complejidad. En el Caso 1 se pudo analizar las relaciones del tumor con las estructuras adyacentes para minimizar el abordaje. En el Caso 2 permitió comprender la anatomía post-operatoria previa del paciente, para determinar la trayectoria del abordaje transnasal endoscópico y la necesidad de ampliar su exposición, logrando la resección tumoral completa. En el Caso 3 permitió obtener las coordenadas estereotáxicas y trayectoria de una lesión sin representación tomográfica. Conclusión: En casos de no contar con costosos sistemas de neuronavegación o estereotáxia el software OsiriX es una alternativa a la hora de planificar la cirugía, con el objetivo de disminuir el trauma y la morbilidad operatoria. PMID:25165617

  20. MODELADO CON REDES DE PETRI E IMPLEMENTACIÓN CON GRAFCET DE UN SISTEMA DE MANUFACTURA FLEXIBLE CON PROCESOS CONCURRENTES Y RECURSOS COMPARTIDOS

    Directory of Open Access Journals (Sweden)

    Johanna Stella Castellanos Arias

    2010-01-01

    Full Text Available En este trabajo, se presenta el modelado de un Sistema de Manufactura Flexible (SMF, con procesos concurrentes y recursos compartidos mediante Sistemas a Eventos Discretos (SED, específicamente Redes de Petri (RdP, y GRAFCET. El SMF se plantea como un modelo hipotético que se modela con una RdP con el objeto de identificar su dinámica y hallar la secuencia óptima de funcionamiento del sistema. Se desarrolló un modelo matemático que permite estimar el vector de tiempo acumulado de un proceso modelado mediante una RdP, el cual constituye la base para hallar la mejor secuencia posible del sistema modelado. Por último, se realizó una implementación en el Laboratorio de Automatización de la Universidad Militar Nueva Granada, que simula el funcionamiento del SMF modelado por un montaje electrohidroneumático controlado con GRAFCET mediante PLC.

  1. Eficacia del tratamiento tópico con Vimang® en pacientes con estomatitis subprótesis

    Directory of Open Access Journals (Sweden)

    Laritza Coureaux Rojas

    2013-10-01

    Full Text Available Se efectuó un ensayo clínico terapéutico controlado de fase III en 120 pacientes con estomatitis subprótesis, atendidos en la Clínica Estomatológica Provincial Docente "Mártires del Moncada" de Santiago de Cuba, desde junio de 2010 hasta mayo de 2011, con vistas a evaluar la eficacia del tratamiento tópico con té de Vimang® en dichos pacientes. Se conformaron 2 grupos de 60 integrantes cada uno (de estudio y de control. Los primeros fueron tratados con enjuagatorios fríos de dicho té 4 veces al día y los segundos con el mismo tratamiento más vitaminas. Se utilizaron el porcentaje para variables cualitativas, así como la media aritmética y la desviación estándar para variables cuantitativas. Todos los integrantes del grupo de estudio se curaron y disminuyó el gasto de material, pero el costo-efectividad fue mayor por ser menor el tiempo de curación. El té de Vimang® resultó eficaz para eliminar las manifestaciones clínicas de esa lesión y no hubo reacciones adversas, de manera que se logró la curación de los afectados con ahorro de tiempo y recursos.

  2. Helical CT defecography; La defecografia con Tomografia Computerizzata spirale

    Energy Technology Data Exchange (ETDEWEB)

    Ferrando, R.; Fiorini, G.; Beghello, A.; Cicio, G.R.; Derchi, L.E.; Consigliere, M.; Resasco, M. [Genua Univ., Genua (Italy). Ist. di Radiologia, Cattedra R; Tornago, S. [Genua Univ. Genua (Italy). 2 Clinica Ortopedica

    1999-11-01

    The purpose of this work is to investigate the possible role of Helical CT defecography in pelvic floor disorders by comparing the results of the investigations with those of conventional defecography. The series analyzed consisted of 90 patients, namely 62 women and 28 men, ranging in age 24-82 years. They were all submitted to conventional defecography, and 18 questionable cases were also studied with Helical CT defecography. The conventional examination was performed during the 4 standard phases of resting, squeezing, Valsalva and straining; it is used a remote-control unit. The parameters for Helical CT defecography were: 5 mm beam collimation, pitch 2, 120 KV, 250 m As and 18-20 degrees gantry inclination to acquire coronal images of the pelvic floor. The rectal ampulla was distended with a bolus of 300 mL nonionic iodinated contrast agent (dilution: 3g/cc). The patient wore a napkin and was seated on the table, except for those who could not hold the position and were thus examined supine. Twenty-second helical scans were performed at rest and during evacuation; multiplanar reconstructions were obtained especially on the sagittal plane for comparison with conventional defecographic images. Coronal Helical CT defecography images permitted to map the perineal floor muscles, while sagittal reconstructions provided information on the ampulla and the levator ani. To conclude, Helical CT defecography performed well in study of pelvic floor disorders and can follow conventional defecography especially in questionable cases. [Italian] Scopo di questo lavoro e' ricercare un ruolo per la defeco-TC con apparecchiatura elicoidale nello studio delle malattie del pavimento pelvico confrontandola con i risultati consolidati della defecografia tradizionale. Si sono visionati 90 pazienti, 62 femmine e 28 maschi, con eta' compresa tra 24 e 82 anni, con defecografia tradizionale; di questi, 18 casi con diagnosi dubbia sono stati studiati anche con defeco-TC spirale

  3. ALMACÉN DE CARBONO EN SISTEMAS AGROFORESTALES CON CAFÉ

    Directory of Open Access Journals (Sweden)

    William Espinoza-Domínguez

    2012-01-01

    Full Text Available El presente estudio se realizó con el objetivo de estimar el almacén de carbono en sistemas agroforestales (SAF con base en café en la región de Huatusco, zona de mayor producción de café (Coffea arabiga L. en el estado de Veracruz, México, a fin de obtener información cuantitativa sobre el potencial de mitigación de carbono en los SAF de la región. Para ello, se estimaron los reservorios de carbono en biomasa vegetal y la materia orgánica edáfica existentes en sistemas agroforestales de café-plátano, café-macadamia, café-cedro rosado, café-ganado ovino y café-chalahuite, y como referencia de una condición no agroforestal se incluyeron un bosque primario y un potrero con pradera natural. La recolección de muestras se hizo en parcelas de 4 x 25 m (100 m2, donde se colectó biomasa de vegetación herbácea y mantillo, y para el suelo la profundidad de muestreo fue de 0 a 30 cm. El sistema agroforestal que presentó la mayor cantidad de carbono aéreo, estimado con modelos alelométricos, fue café-cedro rosado (Ca + Ce, con 114 Mg C·ha-1, seguido de los sistemas café - macadamia (Ca + Ma, con 34 Mg C·ha-1; café-chalahuite (Ca + Ch, con 29 Mg C·ha-1; café-plátano velillo (Ca + Pl, con 27 Mg C·ha-1; y por último el sistema silvopastoril (Sp, con 2 Mg C·ha-1. Para el caso del carbono orgánico del suelo, el tratamiento (Ca + Ce fue el que presentó mayor contenido de carbono fácilmente oxidable en el suelo, con 58 Mg C·ha-1, y el menor fue el tratamiento potrero (P, con 50 Mg C·ha-1. Del carbono orgánico total entre los SAF el tratamiento Ca + Ce fue el que tuvo el mayor valor, con 172 Mg C·ha-1, y el tratamiento silvopastoril (Sp presentó el menor, con 65 Mg C·ha-1. De los sistemas evaluados se concluye que, en promedio, los SAF almacenan 102 Mg C·ha-1, mientras que el potrero almacena 52 t C·ha-1, y el bosque primario es el sistema que más almacena carbono total, con un valor de 355 Mg C·ha-1.

  4. Enfoque terapéutico en 154 pacientes con acromegalia

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    Marcos P. Manavela

    2010-08-01

    Full Text Available La acromegalia es una enfermedad poco frecuente producida en más del 95% de los casos por un tumor hipofisario secretor de hormona de crecimiento (GH. Las manifestaciones clínicas están asociadas a síntomas locales por crecimiento del tumor o a las consecuencias orgánicas y metabólicas secundarias a la hipersecreción de GH. Debido a la alta morbilidad y mortalidad asociadas a la acromegalia, un tratamiento individualizado y optimizado para cada paciente es fundamental. Informamos el enfoque terapéutico de nuestro servicio de endocrinología en la atención de 154 pacientes con acromegalia. Utilizando criterios bioquímicos estrictos, con la cirugía logramos un 32% de remisión global, tasa relativamente baja debido fundamentalmente a que la mayor parte de los pacientes presentaban macroadenomas con un alto porcentaje de invasividad local. Con radioterapia complementaria o como tratamiento inicial se logró la remisión en el 65.4% de los pacientes irradiados. El 14.0% de los pacientes controlaron la enfermedad utilizando agonistas dopaminérgicos solos o combinados con otra droga, mientras que aquellos que utilizaron análogos de la somatostatina normalizaron los parámetros bioquímicos en un 45.7% de los casos. En conclusión, con los diferentes tratamientos utilizados obtuvimos el control de la acromegalia en el 55.2% de los casos, esperando optimizar el tratamiento de estos pacientes en la medida en que contemos con y tengamos acceso a nuevas herramientas terapéuticas.

  5. Intervenciones Farmaceuticas en pacientes con Diabetes Mellitus Tipo 2

    Directory of Open Access Journals (Sweden)

    Gladys Mabel Maidana

    Full Text Available Resumen Introducción: La Atención Farmacêutica es la provision responsable de la farmacoterapia con el propósito de alcanzar resultados concretos que mejoren la calidad de vida de los pacientes. Objetivo: Evaluar el impacto de las intervenciones farmacéuticas en pacientes con Diabetes Mellitus Tipo 2. Metodologia: Ensayo Clínico Aleatorizado, con medición de variables antes y después. No probabilísti-co. De conveniencia. Participaron 32 pacientes del grupo intervenido y 32 en grupo control. Se realizaron entrevistas mensuales en un periodo de intervención farmacéutica de 6 meses (desde octubre 2011 hasta junio 2012. Se registraron solo 3 abandonos. Resultados: La edad de los pacientes fue 55,6±10,6 anos. Los pacientes del grupo intervenido mejoraron la glicemia en 34%, donde 24 pacientes tenian el valor (< 130 mg/dL; la hemoglobina glicosilada mejoró 1,9%, donde 15 pacientes lograron los parámetros deseados (< 6,5%. La calidad de vida del grupo inter-venido aumentó de (56,3 a 71,3 % y fue medido con el cuestionario SF-36. En el grupo intervenido se encontraron 80 problemas relacionados con medicamentos, en 27 pacientes, se resolvieron 59; al final del estudio 12 pacientes resolvieron todos los problemas relacionados con medicamentos; se realizaron 254 intervenciones farmacêuticas, el nivel de conocimiento de los pacientes sobre la enfermedad mejoró en 41%, el conocimiento sobre sus medicamentos mejoró en 53%. Conclusión: Las intervenciones farmacêuticas mejoraron los parámetros clínicos de glicemia, hemoglobina glicosilada, optimizaron el uso de medicamentos, disminuyeron los problemas relacionados con medicamentos, mejoraron la calidad de vida de los pacientes.

  6. LA REFORESTACION CON QUEBRACHO COLORADO Y ALGUNAS NORMAS SILVICOLAS RELACIONADAS CON SU APROVECHAMIENTO RACIONAL

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    José Antonio Valentini

    1960-01-01

    Full Text Available El presente trabajo se relaciona con la reforestación artificialdel quebracho colorado chaqueño, en la zona húmeda del parque chaqueño y las posibilidades de regeneración natural de sus masas, estableciéndose la etapa de la hidrosere más conveniente para su instalación.Se determinan, en base a experiencias recientes, realizadas en establecimientos dependientes de la Administración Nacional de Bosques, los métodos silvícolas más convenientes para su conducción, cortas a clareos sucesivos y tala rasa en fajas alternas, siendo necesaria en la mayoría de los casos, la repoblación por siembra directa o plantación, por falta de portagranos.Los factores limitantes del desarrollo de los quebrachales másimportantes son: las quemas de los campos, el ramoneo y pisoteo de los animales y las heladas y los golpes de sol

  7. Pensar con el ojo, pensar con la mano = Thinking with your eye, thinking with your hand

    Directory of Open Access Journals (Sweden)

    Juan Manuel Sánchez de la Chica

    2013-10-01

    Full Text Available ResumenDefiniendo Asís Cabrero la arquitectura como un arte visual-utilitario, se remonta a los orígenes de la especie para explicar cuáles son elementos de la consciencia que intervienen en la obra del hombre. La táctica de supervivencia humana se basa en una técnica voluntaria, variable, personal e inventiva, en contraste con el instinto de los demás seres de la naturaleza. A este animal rapaz, cuyo pensamiento está determinado por su sentido de la vista, se le añade la inteligencia que proviene de la habilidad de la mano para fabricar herramientas. Este animal de órganos intercambiables es capaz de especializarse con cada una de las herramientas que construye para igualarse a cada uno de los animales especializados. Así, el hombre construye herramientas para hacer frente a una naturaleza variable y cambiante, ya sea un cuchillo, un hacha o un refugio.Siendo la arquitectura causa del sentir óptico, es principalmente el pensamiento útil de la mano el que interviene en la elaboración de la arquitectura. Para Cabrero, la materia se convierte en material a través de la herramienta, para ser aparejado, para poder construir. Son las herramientas las que evolucionan a lo largo de la historia, permaneciendo la materia siempre igual en la naturaleza. Asís Cabrero investiga cinco arquitecturas primitivas relacionadas con cinco materias primeras. Así, estudia la estructura cupular, el dintel, el entramado, la estructura laminar y la estructura desmontable en relación con el uso racional del barro, la piedra, la madera, el ramaje y la piel.La diversa disponibilidad material en la trayectoria profesional de Asís Cabrero, desde el aislamiento de la posguerra a la apertura de los años sesenta, hace que podamos establecer diferentes edades en la obra de Francisco de Asís Cabrero según el material y las herramientas que utiliza.Palabras claveFrancisco Cabrero, arquitectura, instrumentos, material, estructura, herramientas

  8. Demodicidosis en pacientes con rosácea

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    Edhizon Trejo Mucha

    2007-01-01

    Full Text Available Objetivo: Determinar la frecuencia de demodicidosis y sus características clínicas en pacientes con rosácea. Materiales y métodos: Estudio de casos y controles en 42 pacientes con rosácea y 42 controles para describir la presencia y densidad de D. folliculorum. El estudio se realizó en el Hospital Nacional Cayetano Heredia entre marzo y setiembre del 2004, utilizándose la técnica de Tello. Resultados: Demodex folliculorum fue encontrado en los 42 pacientes con rosácea (100% y en 13 (31,0% del grupo control, (p= 0,000. La exposición a gatos, la crianza de roedores y cerdos, la seborrea y el uso de corticoides tópicos fueron mas frecuentes en los pacientes con rosácea. Conclusiones: La presencia de Demodex folliculorum fue más frecuente en los pacientes con rosácea. (Rev Med Hered 2007;18:15-21.

  9. Factores psicosociales relacionados con la rehospitalización de pacientes con psicosis orgánica

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    Cortés-Padilla María Teresa

    2001-01-01

    Full Text Available Objetivo. Conocer los factores psicosociales relacionados con la frecuente rehospitalización de pacientes con psicosis orgánica. Material y métodos. Estudio de tipo observacional descriptivo, de corte transversal. La muestra estuvo formada por 33 pacientes del Hospital Psiquiátrico Guillermo Dávila, con Unidad de Medicina Familiar Número 10 del Instituto Mexicano del Seguro Social de la Ciudad de México, con psicosis orgánica y quienes durante los años de 1993-1994 presentaron más de dos rehospitalizaciones. Instrumentos: Entrevista grabada, o muestra de conversación de cinco minutos, para la emoción expresada (EE, cuestionarios mixtos para la Concepción de Enfermedad y la Relación médico-paciente. La validez y confiabilidad de los datos se establecieron con las pruebas de Kappa y Alpha de Cronbach y se efectuó análisis estadístico descriptivo e inferencial. Resultados. El 60.9% de los familiares presentan alto nivel de EE, es decir, expresan crítica, hostilidad o sobreinvolucramiento emocional; el 64.3% de los sujetos de la muestra conviven más de 35 horas a la semana con familiares que presentan Alta EE. Conclusiones. Altos niveles de EE estuvieron asociados con los frecuentes reingresos a hospitalización. Existe mayor conocimiento de las características de la enfermedad por parte del familiar que del paciente. La relación médico-paciente es satisfactoria pero no forma conciencia de enfermedad ni propicia apego al tratamiento terapeútico. El texto completo en inglés de este artículo está disponible en: http://www.insp.mx/salud/index.html

  10. Caracterización de pacientes con lesiones pigmentarias de piel con riesgo de transformación maligna

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    María Elena Izquierdo Izquierdo

    2015-06-01

    Full Text Available Fundamento: el melanoma es el más terrible y mortífero de los cánceres de piel. Se origina frecuentemente a partir de un nevo melanocítico con riesgo de transformación maligna. Estas lesiones pigmentadas se diagnostican cada vez más en edades tan tempranas como la adolescencia. Objetivo: caracterizar los pacientes en edades pediátricas con signos de lesiones pigmentarias de la piel con riesgo de transformación maligna. Métodos: se realizó un estudio prospectivo de corte transversal en un grupo de 50 pacientes en edades entre 5 y 19 años, que asistieron a la consulta de dermatología del Hospital Pediátrico de Centro Habana en el año 2010, con signos de lesiones pigmentarias de la piel con riesgo de transformación maligna. Se aplicó un instrumento de recogida de datos, con previo consentimiento informado. Se utilizó la estadística descriptiva para el procesamiento de los datos. Resultados: en la población de estudio predominó la adolescencia temprana, el grupo de riesgo con daño actínico crónico y el fototipo III. Estuvo presente el antecedente familiar de cáncer de piel no-melanoma. La lesión más frecuente fue la de nevo melanocítico displásico. Además, se reportó un caso de carcinoma basal en paciente de fototipo II, perteneciente al grupo de riesgo de xeroderma pigmentoso. Conclusiones: se evidenció la transformación maligna de lesiones pigmentarias en piel de pacientes de grupos de riesgo.

  11. DESARROLLO DE UN PORTAL WEB CON TECNOLOGIA PHP/MYSQL

    OpenAIRE

    IBAÑEZ RAAD, FABRICIO CARLOS

    2015-01-01

    Este trabajo de final de grado consta en la implementación de la tecnología PHP y MySQL en un portal web desarrollado con con NetBeans IDE. La ventaja es que tanto PHP, MySQL y NetBeans son open source con lo cual se evita el sobrecoste de pagar licencias adicionales a la hora de crear una web. En este proyecto he implementado un CMS (sistema de gestión de contenidos) donde el usuario puede poner en su web los objetos que el desee a través de este CMS de una forma dinámica y rápida sin tener...

  12. ConKit: a python interface to contact predictions.

    Science.gov (United States)

    Simkovic, Felix; Thomas, Jens M H; Rigden, Daniel J

    2017-07-15

    Recent advances in protein residue contact prediction algorithms have led to the emergence of many new methods and a variety of file formats. We present ConKit , an open source, modular and extensible Python interface which allows facile conversion between formats and provides an interface to analyses of sequence alignments and sets of contact predictions. ConKit is available via the Python Package Index. The documentation can be found at http://www.conkit.org . ConKit is licensed under the BSD 3-Clause. hlfsimko@liverpool.ac.uk or drigden@liverpool.ac.uk. Supplementary data are available at Bioinformatics online. © The Author(s) 2017. Published by Oxford University Press.

  13. Thorium converter (ThorCon) - a doable molten salt reactor

    International Nuclear Information System (INIS)

    Myneni, Ganapati

    2015-01-01

    ThorCon mass-producible nuclear power plants are being built to generate electricity cheaper than coal, at a scale to make a real improvement in world poverty and environment, now. ThorCon irradiated materials and fuel salt are designed to be replaced in four-year cycles with no impact on electricity generation. This flex-fuel plant and its replaceable reactor cans can operate with mixtures of thorium and uranium at multiple enrichments. Fuel salt can be NaF/BeF 2 or LiF/BeF 2 if available. ThorCon's design exceeds current nuclear power safety practice. The team calls for regulatory participation in rigorous testing of a full-scale prototype to develop licensing guidance

  14. Rehabilitación en pacientes con trauma ocular

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    Eduardo Ariel Ramos Gómez

    Full Text Available La rehabilitación en oftalmología tiene como función fundamental lograr el máximo aprovechamiento posible del resto visual. El traumatismo ocular es considerado una de las entidades nosológicas frecuentes que conllevan a una rehabilitación visual. Las causas que provocan este tipo de trauma son variadas y dentro de estas, las agresiones con intención de provocar daños con secuelas son muy frecuentes. Es objetivo de esta revisión puntualizar la importancia de la rehabilitación en pacientes con traumatismo ocular e incentivar el buen accionar de todos los oftalmólogos en cuanto a su atención.

  15. Simulacion borrosa de un reactor con reaccion exotermica no lineal

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    MIGUEL ANGEL RODRIGUEZ BORROTO

    2007-01-01

    Full Text Available En el presente trabajo se desarrolla un modelo difuso basado en la estructura Takagi-Sugeno-Kang dinámica para un reactor continuo de tanque con agitador (RCTA con reacción química de primer orden exotérmico. A partir de datos experimentales obtenidos mediante simulación del proceso real, se obtiene la base de datos de las variables de entrada y salida del proceso y a partir de la misma se elaboran los archivos de datos de entrenamiento y de verificación del modelo borroso el cual es obtenido mediante la herramienta anfis de MATLAB. El modelo obtenido permite predecir la salida del sistema con errores de predicción muy bajos, por lo que el mismo sienta las bases para el diseño de un controlador predictivo no lineal del mismo en próximas etapas de la investigación

  16. Observaciones sobre dos casos de "colitis ulcerativa", tratados con prednisona

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    Luis Valencia Torres

    1960-04-01

    Full Text Available Dos pacientes con colitis ulcerativa fueron tratados con prednisona en una dosis de 30 a 5 mlgr. diarios durante un período de tiempo de cuarenta y cinco días y cuatro meses, respectivamente. Ambos pacientes tenían rayos X de estómago y duodeno negativos, así como cifras de uropepsina normal antes del tratamiento. Ambos presentaron durante el curso del tratamiento episodios epigástricos agudos, con signos radiológicos de gastritis y aumento apreciable en las cifras de uropepsina. Igualmente mejoraron al instalarse un régimen antiulceroso. Un paciente obtuvo cicatrización completa de las ulceraciones y el otro una mejoría apreciable.

  17. Tareas de crianza de padres mexicanos con hijos adolescentes

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    Mariana Escutia Parra

    2014-01-01

    Full Text Available Se describe la frecuencia con la que los padres mexicanos realizan tareas de crianza en una muestra de 670 padres varones de la zona metropolitana del Valle de Toluca, Estado de México, que tuvieran hijos adolescentes de entre 12 y 17 años de edad. Con la confiabilidad de un Alpha de Cronbach 0.98, se aplicó el Cuestionario de tareas de crianza para padres de Rink y Knot-Dickscheit (2002. En contraste con el contexto sociocultural mexicano tradicional, los resultados muestran que las ocho tareas de crianza contempladas en el instrumento son consideradas relevantes por los padres e indican que se encuentran involucrados en el proceso de crianza cotidiana.

  18. CULTIVO DE TEJIDOS EN Ficus carica CON MINIESTACAS

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    Dora Mar\\u00EDa Flores-Mora

    2009-01-01

    brotes desarrollados, se inocularon y se empleó como medio base M&S (1962 completo, suplementado con 1,0; 0,5 y 0 mg/l de BAP. Para la etapa de enraizamiento, se implementaron dos tratamie ntos, M&S (1962 completo con 0,5 y 0 mg/l de AI B. Se obtuvo un 31,67 % de supervivencia y asepsia del material en la etapa de introducción y un promedio de tres brotes por explante al mes de incubación. El mayor promedio de brotes por explante se logró en el tratamiento con 1,0 mg/l de BAP y el mayor porcentaje de enraizamiento se obtuvo en el tratamiento sin regulador. Durante la fase de aclimatación, se logró un 100 % de supervivencia.

  19. Perfil docente para alumnos/as con altas capacidades

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    María Leonor Conejeros-Solar

    2013-01-01

    Full Text Available El presente artículo tiene por objeto determinar un perfil de competencias docentes construido desde la percepción de estudiantes con altas capacidades pertenecientes a un programa universitario para talentos académicos. Se utiliza una metodología cualitativa con una estrategia documental de carácter retrospectivo. Los resultados indican que los estudiantes realizan una evaluación profunda sobre la docencia, incluyendo elementos pedagógicos como flexibilidad, ritmo e integración teoría-práctica. Las percepciones de los estudiantes, poco incorporadas en discusiones relativas a la enseñanza, permiten repensar y delinear un perfil de las competencias docentes relevadas para un trabajo pedagógico efectivo con talentosos en el aula.

  20. Txatarra: vivienda transitoria con buses de transporte público

    Directory of Open Access Journals (Sweden)

    Juan Pablo Arenas Vargas

    2011-07-01

    Full Text Available El presente análisis del proyecto Casa Linda parte de una exploración conceptual en torno a un hábitat sostenible, mediante la generación de un tipo de vivienda transitoria que reutiliza buses de transporte público destinados a ser reducidos a chatarra. La necesidad de replantear la labor de configurar espacios con materiales y formas predeterminados llevó a los autores a comprender cómo resultan insuficientes los medios tradicionales de construcción, en los que se acostumbra emplear materias primas en presentaciones estandarizadas y con acabados predefinidos que se adaptan a los requerimientos y necesidades del proyecto. Enfrentar el proyecto a partir del reciclaje de materiales y objetos (chatarra, de diversas dimensiones y en variadas condiciones, generó un proceso cuya característica principal es la imposibilidad de anticipar con exactitud los procesos constructivos y los acabados finales.