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Sample records for epitelioide una variante

  1. Análisis de una nueva variante fenotípica de distrofia del estroma corneal

    OpenAIRE

    Varela Conde, Yago

    2016-01-01

    Las distrofias corneales son un conjunto de enfermedades hereditarias de la córnea con base genética demostrable y sin afectación sistémica. Su nomenclatura y clasificación han sido revisadas recientemente, prescindiendo de ciertas patologías y agrupando las distrofias en nuevas categorías. Se ha hallado una variante fenotípica atípica con afectación del estroma corneal, por lo que sólo se han revisado las distrofias corneales localizadas a ese nivel (epiteliales-estromales y estromales). ...

  2. Una variante del gen CAPN10 y los factores ambientales muestran asociación con el exceso de peso en jóvenes colombianos

    Directory of Open Access Journals (Sweden)

    Ana C. Orozco

    2014-12-01

    Full Text Available Introducción. La obesidad resulta de la interacción entre factores de riesgo genéticos y ambientales. Objetivo. Evaluar el efecto de tres variantes genéticas y factores ambientales en el exceso de peso en jóvenes de 10 a 18 años de Medellín, Colombia. Materiales y métodos. Se hizo un estudio transversal en 424 jóvenes divididos en tres grupos: 100 obesos, 112 jóvenes con sobrepeso, y, pareados con ellos, 212 jóvenes con peso adecuado, que conformaron el grupo de control. Se evaluó la asociación entre tres polimorfismos genéticos (UCP3-rs1800849, FTO-rs17817449 y CAPN10-rs3842570 y el exceso de peso, así como su interacción con antecedentes familiares de enfermedad, el tiempo dedicado a ver televisión y a jugar videojuegos y el consumo de alimentos. Resultados. Los antecedentes familiares de obesidad, la dedicación de más de dos horas al día a ver televisión y jugar videojuegos, la falta de lactancia materna, el bajo consumo de cereales, legumbres, frutas y verduras y el gran consumo de comidas rápidas fueron más frecuentes entre los obesos que en los controles. Se observó una asociación significativa entre el genotipo I/I (SNP19 del CAPN10 y el exceso de peso, incluso en los jóvenes que llevaban una vida activa. Además, se encontró una asociación significativa entre los genotipos C/C del UCP3 y G/G y T/T del FTO y el exceso de peso, pero solo en los jóvenes sedentarios. Conclusiones. En esta población, la alimentación inadecuada y el sedentarismo aumentaron el riesgo de exceso de peso. El genotipo I/I de SNP19 del CAPN10 se asoció significativamente con el exceso de peso. Algunas variantes del FTO y el UCP3 mostraron tener efecto solo en jóvenes sedentarios.

  3. Variantes alélicas de CYP2D6: *4, *6 y *10 en una muestra de residentes del estado Aragua, Venezuela

    Directory of Open Access Journals (Sweden)

    Carlos Flores-Angulo

    Full Text Available El objetivo del estudio fue determinar la frecuencia de las variantes del gen CYP2D6: *4, *6 y *10 y predecir el fenotipo metabolizador en una muestra de 145 individuos no consanguíneos, aparentemente sanos, residentes del estado Aragua, Venezuela. Los genotipos fueron determinados mediante ensayos de reacción en cadena de la polimerasa seguidos de digestión con endonucleasas de restricción. La predicción del fenotipo metabolizador se realizó con base al sistema Activity score. Las frecuencias de CYP2D6 *4, *6 y *10 fueron de 14,5%, 0,3% y 1%, respectivamente; un porcentaje significativo de individuos fueron categorizados como metabolizador rápido heterocigoto/metabolizador intermedio (23,5% y metabolizador lento (4,1%. Esta información tiene impacto clínico potencial, porque CYP2D6 interviene en el metabolismo de fármacos de prescripción frecuente como: carvedilol, captopril, cloroquina, codeína, fluoxetina, fluvastatina, haloperidol, idarrubicina, indinavir, imatinib, loperamida, nifedipina, ondansetrón y tamoxifeno

  4. El aumento gradual de la capacidad de cálculo de variantes en partidas de ajedrez a 60 minutos, en los atletas del equipo femenino de la EIDE. Propuesta de una alternativa metodológica

    Directory of Open Access Journals (Sweden)

    Jorge Luis Díaz González

    2007-12-01

    Full Text Available Para la realización de este trabajo se contó con una muestra de 6 atletas del equipo femenino de la EIDE “Ormani Arenado” coincidiendo esta con el universo. Se utilizó un análisis de las partidas jugadas en la semifinal provincial primera categoría y se detecto que el cálculo de variantes en las partidas de ajedrez a 60 minutos es deficiente por lo que el autor propone una alternativa metodología a través de ejercicios para el aumento gradual de la capacidad de cálculo de variantes en las partidas de ajedrez a 60 minutos. Para dar cumplimiento al objetivo se determinaron los antecedentes y la evaluación histórica del objeto que se investigo y se elaboró la alternativa metodológica. Los métodos y procedimientos empleados fueron: histórico- lógico, análisis- síntesis, inductivo deductivo, trabajo con documentos, encuestas y análisis porcentual. Se controlaron las variables ajenas: horario de entrenamiento, condiciones del local, comunicación del local, comunicación atleta- entrenador, la motivación de ellos, nivel técnico de los alumnos y los medios para enseñanza.

  5. Evaluación de una variante de control de acceso al medio inalámbrico para tiempo real basada en 802.11e

    OpenAIRE

    Friedrich, Guillermo Rodolfo; Alimenti, Omar; Reggiani, Guillermo; Maidana, Federico; Tonietti, Santiago; Gomez de Marco, Damián

    2010-01-01

    Las tecnologías inalámbricas son una buena elección para trabajar en ambientes industriales, donde es necesario interconectar sistemas móviles o bien se desea evitar el cableado de sensores y controladores en planta. Sin embargo estas tecnologías presentan problemas de confiabilidad y temporizado inherentes a las características de los canales de radio, a los mecanismos de acceso al medio, etc. El estándar 802.11e provee dos alternativas de acceso al medio (EDCA y HCCA) con cuatro niveles de ...

  6. Variantes léxicas del español hablado en Tunja dentro del marco del proyecto Preseea: una muestra

    Directory of Open Access Journals (Sweden)

    DONALD FREDDY CALDERÓN NOGUERA

    2010-01-01

    Full Text Available Artículo de avances de investigación del proyecto el Español hablado en Tunja Materiales para su Estudio, dentro del marco del Preseea. Se trata de un estudio de la variación socio léxica que cruza palabras y frases con variables sociales de procedencia, género, nivel de instrucción y generación. La muestra que aquí se presenta fue seleccionada, clasificada y definida a partir de entrevistas semidirigidas y de un cuestionario. Los resultados demuestran riqueza y creatividad en la construcción de la variación. Las variantes léxicas corroboran cómo el español expresa su unidad en la variedad mediante procesos metafóricos y cognitivos que posibilitan la relación social y la interacción de los hablantes con su entorno.

  7. Cellulase variants

    Science.gov (United States)

    Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

    2015-07-14

    This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

  8. Reconocimiento facial de emociones básicas y complejas en una población de pacientes con demencia frontotemporal variante frontal Facial recognition of basic and complex emotions in a population of patients with frontal variant of frontotemporal dementia

    Directory of Open Access Journals (Sweden)

    María Eugenia Tabernero

    2011-12-01

    Full Text Available La variante frontal de la Demencia Frontotemporal (DFTvf se caracteriza por un severo trastorno de la conducta y la personalidad, explicado por alteraciones en el procesamiento emocional y/o en la Teoría de la Mente (TdM. Objetivo: Evaluar los procesos cognitivos involucrados en a resolución del Test de Caras (Baron-Cohen et al., 1997 en comparación con el test Lectura de la Mente en los Ojos (LMO (Baron-Cohen et al., 2001 y la utilidad de ambos para el diagnóstico de alteraciones en la TdM en pacientes con DFTvf. Población: 20 pacientes con diagnóstico de DFTvf, media de edad 66,9 años y escolaridad 6,25 años. Resultados: Correlación significativa entre LMO y el Test de Caras. Doble disociación entre ambas pruebas. Conclusión: La presencia de correlaciones indica que ambas pruebas se afectan en esta demencia, resultando herramientas de igual valor clínico. El hallazgo de disociaciones indica que cada una de ellas evalúa procesos cognitivos parcialmente independientesThe frontal variant of frontotemporal dementia (FTDfv is characterized by a severe behavioural and personality impairment, explained by alterations in the emotional process and/or in Theory of Mind (ToM. Objective: To assess the cognitive processes involved in performing the Faces Test (Baron-Cohen et al., 1997 in comparison with Reading de Mind in the Eyes Test (RME (Baron-Cohen et al., 2001, and the utility of both in the diagnosis of ToM alterations in FTDfv patients. Subjects: 20 patients diagnosed with FTDfv, mean age 66,9 years and mean education 6,25 years. Results: Significative correlation between RME and Faces Test. Double dissociation between these tests. Conclusion: The presence of correlations indicates that both tests are affected in this dementia, being both useful as clinical tools. The dissociations founded indicates that each one assesses partially-independent cognitive processes.

  9. Holoprosencephaly Variant

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-01-01

    Full Text Available The clinical manifestations in 15 patients (6 boys and 9 girls with middle interhemispheric variant (MIH of holoprosencephaly (HPE were compared with classic subtypes (alobar, semilobar, and lobar of HPE in a multicenter study at Stanford University School of Medicine and Lucile Packard Children’s Hospital; Children’s Hospital of Philadelphia; University of California at San Francisco; Texas Scottish Rite Hospital, Dallas; and Kennedy Krieger Institute, Baltimore, MD.

  10. Variantes en los factores de transcripción para IFNγ, TBET, STAT1, STAT4 y HLX, y el riesgo de desarrollar tuberculosis pulmonar en un estudio de casos y controles de una población colombiana

    Directory of Open Access Journals (Sweden)

    María Dulfary Sánchez

    2013-06-01

    Full Text Available Introducción. El interferón gama (IFNγ es la citocina más potente para controlar la infección por Mycobacterium tuberculosis, el agente etiológico de la tuberculosis humana. Los pacientes con tuberculosis activa presentan reducción de los niveles de IFNγ, lo cual parece explicar la inmunidad poco efectiva contra el bacilo. La disminución de su expresión o alteraciones funcionales de los factores transactivadores del promotor del gen de IFNγ, podrían explicar la reducción de los niveles de IFNγ enlos pacientes con tuberculosis. Objetivo. Determinar la asociación de variantes genéticas en los factores de transcripción TBET,STAT1, STAT4 y HLX con sensibilidad o resistencia a tuberculosis pulmonar. Materiales y métodos. Se seleccionaron ocho polimorfismos de un solo nucleótido (Single-NucleotidePolymorphism, SNP y se estableció su genotipo, en 466 pacientes con tuberculosis pulmonar y 300 controles sanos en Colombia; además, se hizo un análisis de asociación alélica y genética. Resultados. Los resultados indican que los SNP de los factores de transcripción estudiados no están asociados con tuberculosis; sin embargo, el polimorfismo rs11650354 en TBET puede estar implicado en la disminución de riesgo de tuberculosis. El genotipo TT de TBET se asoció significativamente con protección contra tuberculosis usando un modelo genético recesivo (OR=0,089; CI95%: 0,01-0,73;p=0,0069; sin embargo, la corrección mediante pruebas múltiples de ajuste abolió esta asociación (Empirical P Value, EMP2=0,61. Conclusión. En este estudio se sugiere un efecto de la variante rs11650354 de TBET sobre la resistencia a la tuberculosis en la población colombiana. Es necesario desarrollar un estudio de replicación usando muestras adicionales para confirmar esta asociación sugestiva. doi: http://dx.doi.org/10.7705/biomedica.v33i2.790

  11. una comunidad

    Directory of Open Access Journals (Sweden)

    Adriana Hernández García

    2006-01-01

    embargo, el desarrollo generó mayores desigualdades económicas entre las poblaciones urbanas y las rurales, así como efectos de contaminación del medio ambiente y escasez de los recursos naturales. En este trabajo se presentan los puntos de encuentros locales, la historia, identidad y simbolismos que mantienen una visión de la vida comunal; los desencuentros frente al desarrollo aplicado en la localidad; los cambios en los patrones de cultivo y de la pesca, así como la migración como uno de los principales efectos del cambio.

  12. CDKL5 variants

    Science.gov (United States)

    Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E.S.; Cobb, Stuart R.

    2017-01-01

    Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity. Results: The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported missense variant as having a splicing consequence. We provide further evidence that missense variants in the final 3 exons are likely to be benign and not important to disease pathology. We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. We also use the available data to make a preliminary estimate of minimum incidence of CDKL5 deficiency. Conclusions: These findings have implications for genetic diagnosis, providing evidence for the reclassification of specific variants previously thought to result in CDKL5 deficiency. Together, these analyses support the view that the predominant brain isoform in humans (hCDKL5_1) is crucial for normal neurodevelopment and that the catalytic domain is the primary functional domain. PMID:29264392

  13. Variants of cellobiohydrolases

    Energy Technology Data Exchange (ETDEWEB)

    Bott, Richard R.; Foukaraki, Maria; Hommes, Ronaldus Wilhelmus; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Nikolaev, Igor; Sandgren, Mats; Van Lieshout, Johannes Franciscus Thomas; Van Stigt Thans, Sander

    2018-04-10

    Disclosed are a number of homologs and variants of Hypocrea jecorina Ce17A (formerly Trichoderma reesei cellobiohydrolase I or CBH1), nucleic acids encoding the same and methods for producing the same. The homologs and variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted and/or deleted.

  14. Migraine Variants in Children

    Science.gov (United States)

    ... Headaches in Children FAQ Migraine Variants In Children Children Get Migraines Too! Learn More Migraine Information Find Help Doctors & Resources Get Connected Join the Conversation Follow Us on Social Media Company About News Resources Privacy Policy Contact Phone: ...

  15. Histone variants and lipid metabolism

    NARCIS (Netherlands)

    Borghesan, Michela; Mazzoccoli, Gianluigi; Sheedfar, Fareeba; Oben, Jude; Pazienza, Valerio; Vinciguerra, Manlio

    2014-01-01

    Within nucleosomes, canonical histones package the genome, but they can be opportunely replaced with histone variants. The incorporation of histone variants into the nucleosome is a chief cellular strategy to regulate transcription and cellular metabolism. In pathological terms, cellular steatosis

  16. Variants of glycoside hydrolases

    Science.gov (United States)

    Teter, Sarah [Davis, CA; Ward, Connie [Hamilton, MT; Cherry, Joel [Davis, CA; Jones, Aubrey [Davis, CA; Harris, Paul [Carnation, WA; Yi, Jung [Sacramento, CA

    2011-04-26

    The present invention relates to variants of a parent glycoside hydrolase, comprising a substitution at one or more positions corresponding to positions 21, 94, 157, 205, 206, 247, 337, 350, 373, 383, 438, 455, 467, and 486 of amino acids 1 to 513 of SEQ ID NO: 2, and optionally further comprising a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2 a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2, wherein the variants have glycoside hydrolase activity. The present invention also relates to nucleotide sequences encoding the variant glycoside hydrolases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  17. Accurate genotyping across variant classes and lengths using variant graphs

    DEFF Research Database (Denmark)

    Sibbesen, Jonas Andreas; Maretty, Lasse; Jensen, Jacob Malte

    2018-01-01

    of read k-mers to a graph representation of the reference and variants to efficiently perform unbiased, probabilistic genotyping across the variation spectrum. We demonstrate that BayesTyper generally provides superior variant sensitivity and genotyping accuracy relative to existing methods when used...... collecting a set of candidate variants across discovery methods, individuals and databases, and then realigning the reads to the variants and reference simultaneously. However, this realignment problem has proved computationally difficult. Here, we present a new method (BayesTyper) that uses exact alignment...... to integrate variants across discovery approaches and individuals. Finally, we demonstrate that including a ‘variation-prior’ database containing already known variants significantly improves sensitivity....

  18. Variants of Moreau's sweeping process

    International Nuclear Information System (INIS)

    Siddiqi, A.H.; Manchanda, P.

    2001-07-01

    In this paper we prove the existence and uniqueness of two variants of Moreau's sweeping process -u'(t) is an element of Nc (t) (u(t)), where in one variant we replace u(t) by u'(t) in the right-hand side of the inclusion and in the second variant u'(t) and u(t) are respectively replaced by u''(t) and u'(t). (author)

  19. Hairy cell leukemia-variant

    International Nuclear Information System (INIS)

    Quadri, Mohammad I.; Al-Sheikh, Iman H.

    2001-01-01

    Hairy cell leukaemia variant is a very rare chronic lymphoproliferative disorder and is closely related to hairy cell leukemia. We hereby describe a case of hairy cell leukaemia variant for the first time in Saudi Arabia. An elderly Saudi man presented with pallor, massive splenomegaly, and moderate hepatomegaly. Hemoglobin was 7.7 g/dl, Platelets were 134 x109/l and white blood count was 140x10 9/l with 97% being abnormal lymphoid cells with cytoplasmic projections. The morphology, cytochemistry, and immunophenotype of the lymphoid cells were classical of hairy cell leukaemia variant. The bone marrow was easily aspirated and findings were consistent with hairy cell leukaemia variant. (author)

  20. Ontología para la gestión unificada de variantes y versiones de productos

    OpenAIRE

    Sonzini, María Soledad; Vegetti, Marcela

    2015-01-01

    El objetivo de este trabajo es presentar una ontología para gestionar la variación temporal de una familia de productos a través de versiones. La propuesta permite identificar los puntos variantes, la causa, el tiempo de validez y el control de la propagación/ impacto de los cambios. Es una ontología genérica que puede ser integrada con distintos modelos de representación de variantes de productos. A fin de validar la propuesta, se muestra la integración de la ontología de versiones propuesta...

  1. Product Variant Master as a Means to Handle Variant Design

    DEFF Research Database (Denmark)

    Hildre, Hans Petter; Mortensen, Niels Henrik; Andreasen, Mogens Myrup

    1996-01-01

    be implemented in the CAD system I-DEAS. A precondition for high degree of computer support is identification of a product variant master from which new variants can be derived. This class platform defines how a product build up fit certain production methods and rules governing determination of modules...

  2. Historia de una histeria

    Directory of Open Access Journals (Sweden)

    Jorge Luis Gómez

    2015-01-01

    Full Text Available Una versión ecuatoriana de la novela "La guerra de los mundos" de H. G. Wells, en audición radiofónica de Radio Quito, en 1949, inauguró formalmente en el Ecuador la historia de las histerias colectivas. En este breve texto, el autor hace una reflexión sobre este fenómeno de masas.

  3. Electrodos austeníticos inoxidables semisintéticos para la soldadura manual por arco eléctrico: Una variante económica para las pequeñas y medianas empresas (PIME. // Semi-synthetic austenitics stainless steel electrodes for shielded metal arc welding: A

    Directory of Open Access Journals (Sweden)

    A. Paz Iglesias

    2002-09-01

    Full Text Available En el presente trabajo se brinda una valoración económica para la producción de electrodos austeníticos inoxidables tiposE308L, E309, E312 y E316L en las pequeñas y medianas empresas (PIME. Lo significativo de la presente valoración esque se brindan los resultados obtenidos al fabricar los electrodos de forma semisintética; es decir, utilizando un solo tipo dealambre inoxidable (308L y añadiendo las ferroaleaciones necesarias en el revestimiento. Los resultados que se muestranestán basados en las experiencias de investigación, producción y comercialización de una planta con capacidad para 200toneladas al año, a la cual le es muy difícil insertarse en el mercado utilizando los mismos procedimientos tecnológicos yfinancieros de una gran empresa con grandes capitales y recursos.Palabras claves: Electrodos austeníticos inoxidables, electrodos sintéticos, ferroaleaciones, electrodossemisintéticos, electrodos convencionales, metal depositado.___________________________________________________________________Abstract.This paper offers an economic valuation for the production of stainless electrodes type E308L, E309, E312 and E316L,for small and middle companies (PIME. The significant part of the present valuation gives the results obtained in theproduction of semi-synthetic electrodes; using just one type of stainless wire (308L and adding the ferroalloys neededin the coat. The results shown are based on investigation experiences, production and trading of companies with acapacity for 200 T/year, so it is very difficult to enter in the market using the same technological procedures of a bigcompany with higher capital and financial resources.Key words: Nonrusting austenistic electrodes, sintetic electrodes, semisintetic electrodes, iron alloy,conventional electrodes, metal deposition.

  4. Variante de la carretera N-621 en Potes

    OpenAIRE

    Lopo Martínez, Mario

    2015-01-01

    RESUMEN: OBJETO Y DEFINICIÓN DEL PROYECTO El objeto del presente proyecto es recoger, a nivel de proyecto de construcción, las actuaciones necesarias para la construcción de la Variante de la Carretera N-621 por el Este de Potes, de forma que, una vez redactado, aprobado y licitado, permita ejecutar las obras correspondientes. Con la ejecución de las obras se pretende lograr el doble objetivo de, por un lado, mejorar la situación en el casco urbano de Potes eliminando la circulación del tráfi...

  5. una sociedad emergente

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    Derlisiret Rincón M.

    2006-01-01

    Full Text Available Este trabajo busca reflexionar por una parte acerca del papel de la ciencia, la tecnología y la educación, como factores de desarrollo de las naciones e intenta responder la interrogante en torno al cómo estas variables contribuirán a la transformación de la realidad social venezolana. Los planteamientos expuestos en este artículo forman parte de una investigación cualitativa que se sustenta en una revisión teórica cuyos resultados indican que existe la posibilidad cierta de construir y alcanzar una Venezuela virtual en los próximos años; es decir, se vislumbra un país interconectado y funcionando a través de redes cuyos individuos estarían capacitados y entrenados en el uso y usufructo de las nuevas tecnologías. Esta visión de país, se basa en la premisa de que la oportuna implementación de la Planificación de Ciencia y Tecnología resultaría instrumento de vinculación de las variables tecnológicas, educativas y científicas, que permiten obtener conocimientos especializados y orientados a la solución de problemas de creciente dimensión global. Tales conocimientos, pudieran generar los cambios sustanciales necesarios en el contexto nacional, para lograr modificar o disminuir el sentido de crecimiento de la brecha o divisoria digital en este entorno

  6. CRIPTOSPORIDIOSIS: UNA ZOONOSIS PARASITARIA

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    Claudia Vergara

    2004-07-01

    Full Text Available La criptosporidiosis es una enfermedad parasitariaproducida por protozoos coccidios pertenecientes algénero Cryptosporidium. Su importancia se puso demanifiesto a comienzos de los años 1980 por lo quepuede considerarse una patología de conocimientorelativamente reciente, aunque actualmente se hademostrado que es una de las infecciones entéricasmás frecuentes en humanos y animales y un problemade salud pública en todo el mundo (Casemore et al.1997. La especie de mayor interés dentro del género,y a la cual nos referiremos a lo largo de esta revisión,es C. parvum, que se multiplica preferentemente enlas células epiteliales del intestino delgado de losmamíferos desencadenando diarrea por absorción ydigestión deficientes y que debido a su escasaespecificidad de hospedador, puede transmitirseindistintamente entre los mamíferos domésticos y elhombre

  7. Hacia una vejez útil

    Directory of Open Access Journals (Sweden)

    Hernández Amparo

    1992-12-01

    Full Text Available

    Con lleva un interés bien particular encontrarnos con una población tan heterogénea en cuanto a caracterización se refiere, ya porque miremos en ella sus hábitos, sus costumbres, procedencia, nivel socio-cultural, etc., dicha comunidad de ancianos plantea, de inmediato la necesidad de ponerse en un contacto generacional que rompiera y dejara atrás la rutina y la monotonía, propia de su cotidianidad, es entonces cuando tres profesionales altamente motivadas en el trabajo comunitario, inician un proceso vivo y dinámico con el anciano institucionalizado a fin de que ellos recobraran el protagonismo, elevaran su autoestima, tomaran parte en la toma de decisiones frente a su vida, y volvieran a sentirse en capacidad de dar respuesta a sus conflictos, buscando alternativas de solución en una tarea mancomunada que exigió madurez, diálogo y comunicación permanente entre cada una de las partes involucradas en dicho proceso.

  8. Análisis de variantes de HPV-16 como marcador molecular antropólogico

    Directory of Open Access Journals (Sweden)

    Badano, Ines

    2007-01-01

    Full Text Available El Virus Papiloma Humano tipo 16 (HPV16 es el principal responsable del desarrollo del cáncer de cuello uterino. Además de su significado clínico, el estudio de la variación genética en las regiones E6, L1 y LCR de este virus ha permitido identificar variantes específicas de diferentes áreas geográficas. Este descubrimiento sugiere una antigua propagación del HPV16 y su coevolución con el género humano. En este contexto, las variantes podrían servir como marcador molecular antropológico, aportando nuevos datos al análisis de patrones migratorios humanos. El objetivo del trabajo fue determinar las variantes de HPV16 en las regiones genéticas E6 y L1 que infectan mujeres guaraníes de Misiones. Para ello se analizaron 39 muestras de cepillados cervicales de mujeres guaraníes infectadas con HPV16. Las variantes en E6 y L1 se identificaron por PCR e hibridación en dot blot. Los resultados obtenidos fueron: el 77% de las variantes Europeas, 20% Africanas y 3% Asiático Americanas. La baja prevalencia de variantes Asiático Americanas coincide con lo reportado por Picconi y col, 2002 para mujeres quechuas, y haría suponer una limitada diseminación del HPV16 durante la época prehispánica. El predominio de las variantes Europeas podría ser resultado de la colonización española y la inmigración europea, mientras que el tráfico de esclavos negros explicaría la presencia de variantes Africanas. Por otra parte, la hipótesis de competencia viral tampoco puede ser descartada.

  9. Data-variant kernel analysis

    CERN Document Server

    Motai, Yuichi

    2015-01-01

    Describes and discusses the variants of kernel analysis methods for data types that have been intensely studied in recent years This book covers kernel analysis topics ranging from the fundamental theory of kernel functions to its applications. The book surveys the current status, popular trends, and developments in kernel analysis studies. The author discusses multiple kernel learning algorithms and how to choose the appropriate kernels during the learning phase. Data-Variant Kernel Analysis is a new pattern analysis framework for different types of data configurations. The chapters include

  10. Una metropolitana chiamata "tram"

    Directory of Open Access Journals (Sweden)

    Mariella Zoppi

    2012-08-01

    Full Text Available Perché il caso-Firenze della tramvia ha avuto un rilievo così forte sui media nazionali? Perché la tramvia (se vogliamo continuare a chiamare così una metropolitana di superficie è parte di un sovvertimento dei valori storici, estetici ed economici della città di cui il sistema di trasporto è solo un frammento. La grande operazione di trasformazione, come viene chiamata dall’Amministrazione comunale, passa per il cambiamento di destinazione e la nuova edificazione di molte aree urbane: dall’area Fiat e da quella dell’ex-officine ferroviarie di Porta a Prato (ormai in fase conclusiva, dall’avvio dell’edificazione privata a Castello (vicenda nota negli anni Ottanta come “Fondiaria” a quelle di aree di minori dimensioni che interessano ex-cinema o teatri (è di questi giorni il destino dell’attuale Teatro comunale che si mutano in abitazioni pregiate o di fabbriche dismesse che si trasformano, con il loro carico volumetrico pressoché intatto (a pareggiare i conti ci pensa la “perequazione”, in parcheggi in struttura (semi-vuoti perché mal collocati, residenze, uffici, alberghi e quant’altro possa essere “utile” ad una città invecchiata che ha perso, centomila abitanti fra il 1971 ed il 2001, passando da una popolazione di 457.803 a una di 356.118. Come nel resto del Paese, anche a Firenze, non esiste più un dibattito pubblico che riporti gli umori della città all’interno delle vicende politiche e amministrative, e dunque tutto avviene fra l’indifferenza delle cronache locali che sembrano più interessate alle dichiarazioni di questo o quel personaggio che alla effettiva trasmissione delle informazioni. Le notizie circolano sulla rete, veicolate dai comitati (ormai c’è un comitato di cittadini per ogni strada o problema, che vive separatamente dagli amministratori e diventano patrimonio di quanti abbiano una sia pur minima alfabetizzazione informatica.

  11. GCPII Variants, Paralogs and Orthologs

    Czech Academy of Sciences Publication Activity Database

    Hlouchová, Klára; Navrátil, Václav; Tykvart, Jan; Šácha, Pavel; Konvalinka, Jan

    2012-01-01

    Roč. 19, č. 9 (2012), s. 1316-1322 ISSN 0929-8673 R&D Projects: GA ČR GAP304/12/0847 Institutional research plan: CEZ:AV0Z40550506 Keywords : PSMA * GCPIII * NAALADase L * splice variants * homologs * PSMAL Subject RIV: CE - Biochemistry Impact factor: 4.070, year: 2012

  12. Odontogenic keratocyst: a peripheral variant.

    Science.gov (United States)

    Vij, H; Vij, R; Gupta, V; Sengupta, S

    2011-01-01

    Odontogenic keratocyst, which is developmental in nature, is an intraosseous lesion though on rare occasions it may occur in an extraosseous location. The extraosseous variant is referred to as peripheral odontogenic keratocyst. Though, clinically, peripheral odontogenic keratocyst resembles the gingival cyst of adults, it has histologic features that are pathognomonic of odontogenic keratocyst. This article presents a case of this uncommon entity.

  13. Ecuador: una democracia inestable

    Directory of Open Access Journals (Sweden)

    Juan J. Paz y Miño Cepeda

    2009-12-01

    Full Text Available En 1979, tras una década de dictaduras militares, se inició la fase constitucional más larga en la historia del Ecuador. Ésta se levantó sobre las herencias del pasado y se caracterizó, de manera fundamental, por el tránsito desde un modelo estatal-desarrollista hacia uno de tipo empresarial, por el aparecimiento de nuevos agentes sociales, el multipartidismo político, la regionalización nacional, la presencia multicultural y la inserción del país en nuevas relaciones internacionales. Pero esos procesos trajeron como consecuencias centrales: la edificación de una economía inequitativa, una sociedad tensionada, la desestructuración institucional, la precarización del trabajo y la debilidad con la que la nación ha enfrentado el nuevo mundo unipolar. Todo ello ha configurado un cuadro de riesgos para la incipiente democracia. El Ecuador contemporáneo tiene, por tanto, una serie de desafíos económicos, sociales y políticos para escapar a la inestabilidad que ha acompañado a la construcción de su modernización democrática.___________________ABSTRACT:In 1979, after one decade of military dictatorships, the longest constitutional phase in the history of Ecuador was initiated. It was built upon the inheritance of the past and can be fundamentally characterized by the transition from a model that focused on the state as developing the economy (State-model to a model that focused on private business (enterprise-model. The appearance of new social agents, a multiparty system, national regionalization, multicultural presence and the country´s new international relationships are processes which show some important consequences: the establishment of an unequal economy, a society under tension, the breakdown of institutional structures, the vulnerability of working conditions and the weakness with which the nation faced the new polarized world. All this might put into danger this incipient democracy. And this is why Ecuador in these

  14. una propuesta de indicadores

    Directory of Open Access Journals (Sweden)

    Noemí Luján Ponce

    2007-01-01

    Full Text Available La tecnología reviste características de neutralidad, eficiencia, transparencia y regularidad. Factores que hoy día resultan relevantes para realizar procesos electorales confiables. Las redistritaciones electorales en México 1996 y 2005 resultan casos paradigmáticos en relación a la cristalización de la tecnología como una mediación para la construcción de acuerdos entre los partidos y las autoridades electorales. Se ofrecen cinco indicadores para comparar ambos procesos de distritación.

  15. Construir una literatura

    OpenAIRE

    Sánchez Wilde, Ariel Oscar

    1998-01-01

    La consideración de las relaciones entre los textos producidos en el centro yen la periferia del sistema es insoslayable a la hora de abordar la lectura crítica de una literatura, analizándola tanto en su proceso histórico (diacronía), como en un estado determinado de dicho proceso (sincronía). El presente trabajo, a partir de un corpus de diez textos publicados entre 1921 y 1931 en distintos lugares de Latinoamérica (Argentina, Brasil, Cuba, México, Nicaragua, Perú, Puerto Rico y República D...

  16. Thermodynamic, Anticoagulant, and Antiproliferative Properties of Thrombin Binding Aptamer Containing Novel UNA Derivative

    Directory of Open Access Journals (Sweden)

    Weronika Kotkowiak

    2018-03-01

    Full Text Available Thrombin is a serine protease that plays a crucial role in hemostasis, fibrinolysis, cell proliferation, and migration. Thrombin binding aptamer (TBA is able to inhibit the activity of thrombin molecule via binding to its exosite I. This 15-nt DNA oligonucleotide forms an intramolecular, antiparallel G-quadruplex structure with a chair-like conformation. In this paper, we report on our investigations on the influence of certain modified nucleotide residues on thermodynamic stability, folding topology, and biological properties of TBA variants. In particular, the effect of single incorporation of a novel 4-thiouracil derivative of unlocked nucleic acid (UNA, as well as single incorporation of 4-thiouridine and all four canonical UNAs, was evaluated. The studies presented herein have shown that 4-thiouridine in RNA and UNA series, as well as all four canonical UNAs, can efficiently modulate G-quadruplex thermodynamic and biological stability, and that the effect is strongly position dependent. Interestingly, TBA variants containing the modified nucleotide residues are characterized by unchanged folding topology. Thrombin time assay revealed that incorporation of certain UNA residues may improve G-quadruplex anticoagulant properties. Noteworthy, some TBA variants, characterized by decreased ability to inhibit thrombin activity, possess significant antiproliferative properties reducing the viability of the HeLa cell line even by 95% at 10 μM concentration.

  17. Swine Influenza/Variant Influenza Viruses

    Science.gov (United States)

    ... Address What's this? Submit What's this? Submit Button Influenza Types Seasonal Avian Swine Variant Pandemic Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend ...

  18. Una finestra sul polo

    Directory of Open Access Journals (Sweden)

    Graziella Busso

    2015-07-01

    Full Text Available Rabbia, dolore, incredulità si mescolano in un turbinio di emozioni quando, dalle affissioni che quasi quotidianamente si danno il cambio, si legge il necrologio di un “qualcuno” che sappiamo ucciso dal cancro. E pensiamo che, ancora e forse per tanto tempo, potremmo essere più fortunati. E non c’è pace, non c’è consolazione per quei giorni di vita vissuta, strappata, stropicciata, rubata da un mostro che non sempre è possibile sconfiggere finché non subentra la stanchezza, la rassegnazione, la secchezza delle ghiandole lacrimali. Unico strumento per cercare di “cambiare le cose”, per quanto difficile possa sembrare farlo, è combattere, perché la lotta per un ambiente più vivibile sarà una conquista per noi e per i nostri figli, un’eredità che non ha prezzo. La voglia di “gridare” la sofferenza di chi vive la realtà di uno sviluppo insostenibile si è da tempo trasformata ad Augusta in una battaglia di sensibilizzazione alla ormai annosa problematica e nel profondo desiderio di raccontare, far conoscere, testimoniare emozioni, desideri, sogni di chi vive in prima persona o ha vissuto la malattia di un proprio caro perché tutto questo possa servire a spingere verso quel mutamento culturale, storico, ambientale a cui tutti noi agogniamo.

  19. Mucormicosis: Una micosis emergente

    Directory of Open Access Journals (Sweden)

    Iris Tiraboschi

    2012-02-01

    Full Text Available El objetivo de este trabajo es presentar la incidencia, frecuencia, características clínicas y evolución de los pacientes con mucormicosis atendidos en el Hospital de Clínicas José de San Martín, Universidad de Buenos Aires, entre los años 1982 y 2010. Durante ese período se diagnosticaron 10 casos de mucormicosis. Los tres primeros entre 1982 y 2004 y los últimos 7 entre 2005 y 2010. La incidencia y frecuencia de esta enfermedad, para el período 1980-2004 fue 0.13 pacientes/año y 0.1 casos/10 000 egresos (IC 95%: 0.00 a 0.3 respectivamente. En el período 2005-2010 la incidencia fue 0.86 pacientes/año y la frecuencia de 1.1 casos/10 000 egresos (IC 95%: 0.5 a 2.4. Hubo nueve casos de mucormicosis rinosinuso-orbitaria, siete en pacientes con diabetes mellitus, uno en una paciente con una hemopatía maligna y neutropenia, y el restante en un paciente con HIV/sida que además estaba neutropénico y con un síndrome hemofagocítico. En una paciente se realizó el diagnóstico post mortem de mucormicosis pulmonar. El diagnóstico se efectuó por la observación de filamentos cenocíticos en los diez casos. Hubo desarrollo de mucorales en los cultivos de 8/9 pacientes; cinco Rhizopus spp y tres Mucor spp. Todos los pacientes recibieron un tratamiento inicial con anfotericina B deoxicolato, que en tres de ellos fue continuado con anfotericina B liposomal, y cirugía. Tres enfermos recibieron además un tratamiento adyuvante con oxigeno hiperbárico. La mortalidad fue 30%.

  20. El blindaje de una PC

    Directory of Open Access Journals (Sweden)

    Revista Chasqui

    2015-01-01

    Full Text Available La navegación en Internet y la consiguiente conexión a una red expone a una computadora a un sinfín de riesgos y peligros. Una PC que no sea utilizada para navegar en Internet o que no esté conectada a una red puede,incluso, ser también afectada por virus, por la utilización de disquetes contaminados que la contaminen con un virus. Para enfrentar esos problemas, la industria informática ha previsto una serie de protecciones y recaudos, de cuyo uso y utilización deben estar plenamente informados los usuarios de una PC.

  1. Coronary artery anatomy and variants

    Energy Technology Data Exchange (ETDEWEB)

    Malago, Roberto; Pezzato, Andrea; Barbiani, Camilla; Alfonsi, Ugolino; Nicoli, Lisa; Caliari, Giuliana; Pozzi Mucelli, Roberto [Policlinico G.B. Rossi, University of Verona, Department of Radiology, Verona (Italy)

    2011-12-15

    Variants and congenital anomalies of the coronary arteries are usually asymptomatic, but may present with severe chest pain or cardiac arrest. The introduction of multidetector CT coronary angiography (MDCT-CA) allows the detection of significant coronary artery stenosis. Improved performance with isotropic spatial resolution and higher temporal resolution provides a valid alternative to conventional coronary angiography (CCA) in many patients. MDCT-CA is now considered the ideal tool for three-dimensional visualization of the complex and tortuous anatomy of the coronary arteries. With multiplanar and volume-rendered reconstructions, MDCT-CA may even outperform CCA in determining the relative position of vessels, thus providing a better view of the coronary vascular anatomy. The purpose of this review is to describe the normal anatomy of the coronary arteries and their main variants based on MDCT-CA with appropriate reconstructions. (orig.)

  2. Leggere è una festa

    Directory of Open Access Journals (Sweden)

    Philippe Lejeune

    2011-04-01

    Full Text Available Come è possibile? Io, così agnostico, perché sono sollecitato da immagini religiose? Abbiamo inventato a poco a poco, dal 1992, poi ritualizzato, il nostro modo di fare. Una “liturgia” regola il corso delle nostre riunioni: è la “carta” dei gruppi di lettura. Le procedure devono essere le stesse in tutti i gruppi, al fine di garantire la coerenza di questo immenso lavoro. Vi è un’ortodossia, un’istanza di controllo che si preoccupa delle alterazioni delle regole, delle procedure d’invito … Come per gli ordini monastici c’è un noviziato (ogni nuovo partecipante è preso “in prova” in un gruppo e dei voti da pronunziare, in particolare quello di “leggere in simpatia” (su questo ci ritornerò dopo – voto di spoliazione di sé per aprirsi all’altro – scoprendo per gradi che non è facile come sembra.

  3. Microcystic Variant of Urothelial Carcinoma

    Directory of Open Access Journals (Sweden)

    Anthony Kodzo-Grey Venyo

    2013-01-01

    Full Text Available Background. Microcystic variant of urothelial carcinoma is one of the new variants of urothelial carcinoma that was added to the WHO classification in 2004. Aims. To review the literature on microcystic variant of urothelial carcinoma. Methods. Various internet search engines were used to identify reported cases of the tumour. Results. Microscopic features of the tumour include: (i Conspicuous intracellular and intercellular lumina/microcysts encompassed by malignant urothelial or squamous cells. (ii The lumina are usually empty; may contain granular eosinophilic debris, mucin, or necrotic cells. (iii The cysts may be variable in size; round, or oval, up to 2 mm; lined by urothelium which are either flattened cells or low columnar cells however, they do not contain colonic epithelium or goblet cells; are infiltrative; invade the muscularis propria; mimic cystitis cystica and cystitis glandularis; occasionally exhibit neuroendocrine differentiation. (iv Elongated and irregular branching spaces are usually seen. About 17 cases of the tumour have been reported with only 2 patients who have survived. The tumour tends to be of high-grade and high-stage. There is no consensus opinion on the best option of treatment of the tumour. Conclusions. It would prove difficult at the moment to be dogmatic regarding its prognosis but it is a highly aggressive tumour. New cases of the tumour should be reported in order to document its biological behaviour.

  4. Characterization of form variants of Xenorhabdus luminescens.

    Science.gov (United States)

    Gerritsen, L J; de Raay, G; Smits, P H

    1992-01-01

    From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in pigmentation and uptake of dye. Of the two other variants, one produced a yellow pigment and fewer antibiotics (XE-yellow), while the other did not produce a pigment or antibiotics (XE-white). Both were less luminescent, did not take up dye, and had small cell and colony sizes. These two variants were very unstable and shifted to the primary form after 3 to 5 days. It was not possible to separate the primary form and the white variant completely; subcultures of one colony always contained a few colonies of the other variant. The white variant was also found in several other X. luminescens strains. DNA fingerprints showed that all four variants are genetically identical and are therefore derivatives of the same parent. Protein patterns revealed a few differences among the four variants. None of the variants could be considered the secondary form. The pathogenicity of the variants decreased in the following order: XE-red, XE-pink, XE-yellow, and XE-white. The mechanism and function of this variability are discussed. Images PMID:1622273

  5. Identificación de la variante Q204x en ganado charbray en prueba de comportamiento

    Directory of Open Access Journals (Sweden)

    Williams Arellano Vera

    2011-01-01

    Full Text Available Se identificó por medio de discriminación alélica, la variante Q204X del gen de la Miostatina en un grupo de 34 toretes de la raza Charbray del Noroeste de México sometidos a pruebas de comportamiento. Se obtuvo una frecuencia de 9.3 % de portadores heterocigotos, y una frecuencia génica del 5 % en la muestra evaluada. Este es el primer reporte de la presencia de la variante Q204X en ganado Charbray, con el cual se abre la posibilidad de diseñar estrategias de identificación y cuantificación del efecto de la variante segregada para complementar los esquemas de mejoramiento genético basados en características productivas y reproductivas en el ganado Charbray de México.

  6. Una revista distinta: Ellas

    Directory of Open Access Journals (Sweden)

    Requena Hidalgo, Cora

    2014-06-01

    Full Text Available This article focuses on the women’s magazine Ellas, published in the mid-nineteenth century in Madrid, and discusses its relationship with other approximately contemporary magazines and newspapers in order to contribute to a reconstruction of the history of women’s publications in the Spanish press. The approach is based on an analysis of the text of each issue of the magazine and comparison with other publications, where applicable. Key features of the article include a reflection on the social rights of women, an attempt to analyse the main differences between women and men and defining features of sexual gender, the need for women’s education, etc. Studying the magazine’s content clearly reveals a continual tension between progressive and conservative ideas typical of the historical context in which gender studies emerged in Spain.Este artículo centra su atención en la revista para mujeres Ellas, publicada a mediados del siglo XIX en Madrid. Analiza, asimismo, la relación de esta publicación con algunas otras revistas y periódicos de su contexto histórico próximo, con el fin de contribuir a la reconstrucción de una Historia de las publicaciones para mujeres en la prensa española. Para ello se utiliza el análisis de textos que forman parte de los números que componen la revista, así como el análisis comparativo entre publicaciones, cuando es pertinente. Entre los aspectos de mayor interés que el artículo pone de relieve se encuentra la reflexión sobre los derechos sociales de las mujeres, el intento de análisis de las principales diferencias entre mujeres y hombres y de los rasgos definitorios de los géneros sexuales, la necesidad de educación de las mujeres, entre otros. El estudio del contenido de la publicación revela claramente una tensión contradictoria continua entre las ideas progresistas y las ideas conservadoras propias del momento histórico que dieron origen en España al nacimiento de los estudios de género.

  7. Una visita a Buero Vallejo

    Directory of Open Access Journals (Sweden)

    Luis Navarro

    1962-06-01

    Full Text Available Si usted, que ha visto representadas o ha leído "Historia de una escalera", "En la ardiente oscuridad", "Meninas", quiere conocer a su autor, véngase conmigo. Ande, apurémonos: la cita es para la una y media y ya son las dos.

  8. Gnomon una indagine sul numero

    CERN Document Server

    Zellini, Paolo

    1999-01-01

    Lo "gnomone" di cui si parla in questo libro non è quello stilo, più o meno monumentale, la cui ombra indica l'ora solare, ma un semplice strumento matematico: una figura geometrica, piana o solida, che aggiunta a un'altra ne genera una simile. Si tratta quindi di una tecnica, ampiamente diffusa nell'antichità, atta a ingrandire o rimpicciolire una forma conservandone l'aspetto. Lo gnomone non aveva solo importanza geometrica. Dalla semplice operazione di correzione "gnomonica" di una figura sono dipesi infatti la stessa nozione di numero, la definizione di vari concetti dell'Analisi e alcuni tra i principali algoritmi numerici e algebrici della matematica.

  9. Shift-Variant Multidimensional Systems.

    Science.gov (United States)

    1985-05-29

    x,y;u,v) is the system response at (x,y) to an unit impulse applied at (u,v). The presence of additive noise in the preceding input-output model of a...space model developed works very effi- ciently to deblur images affected by 2-D linear shift- varying blurs, its use, in presence of noise needs to be...causal linear shift-variant (LSV) system, whose impulse res- ponse is a K-th order degenerate sequence, a K-th order state-space model was obtained

  10. Una visita en Sud America

    Science.gov (United States)

    1982-09-01

    Oisfrute de una estadfa en el Hotel La Silla, el mejor hotel de Sud America con su tan unica atmosfera extraterrestre! Los espera su calificado personal de experimentados hoteleros, jefes de cocina, etc., ansiosos todos de satisfacer sus deseos hasta el mas mfnimo detalle. Naturalmente nuestro espacioso restaurant de tres estrellas ofrece un completo surtido de exquisitas comidas y deliciosos tragos (conocedores usualmente eligen "Oelicia Orion" 0 "Centauro Especial"). EI servicio cempleto durante 24 horas incluye nuestra ya mundialmente famosa "Cena de medianoche para los miradores de estrellas", por eso - no olvide: No pierda la oportunidad de una estadfa en EL HOTEL LA SILLA - una experiencia maravillosa!

  11. Developing consistent pronunciation models for phonemic variants

    CSIR Research Space (South Africa)

    Davel, M

    2006-09-01

    Full Text Available Pronunciation lexicons often contain pronunciation variants. This can create two problems: It can be difficult to define these variants in an internally consistent way and it can also be difficult to extract generalised grapheme-to-phoneme rule sets...

  12. Semantic prioritization of novel causative genomic variants

    KAUST Repository

    Boudellioua, Imene

    2017-04-17

    Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

  13. Semantic prioritization of novel causative genomic variants

    KAUST Repository

    Boudellioua, Imene; Mohamad Razali, Rozaimi; Kulmanov, Maxat; Hashish, Yasmeen; Bajic, Vladimir B.; Goncalves-Serra, Eva; Schoenmakers, Nadia; Gkoutos, Georgios V.; Schofield, Paul N.; Hoehndorf, Robert

    2017-01-01

    Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

  14. Fundamental Characteristics of Industrial Variant Specification Systems

    DEFF Research Database (Denmark)

    Hansen, Benjamin Loer; Hvam, Lars

    2004-01-01

    fundamental concepts related to this task, which are relevant to understand for academia and practitioners working with the subject. This is done through a description of variant specification tasks and typical aspects of system solutions. To support the description of variant specification tasks and systems...

  15. Characterization of form variants of Xenorhabdus luminescens.

    NARCIS (Netherlands)

    Gerritsen, L.J.M.; Raay, de G.; Smits, P.H.

    1992-01-01

    From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in

  16. CLEVER: Clique-Enumerating Variant Finder

    NARCIS (Netherlands)

    Marschall, T.; Costa, I.; Canzar, S.; bauer, m; Klau, G.W.; Schliep, A.; Schönhuth, A.

    2012-01-01

    Motivation: Next-generation sequencing techniques have facilitated a large-scale analysis of human genetic variation. Despite the advances in sequencing speed, the computational discovery of structural variants is not yet standard. It is likely that many variants have remained undiscovered in most

  17. La Hamaca o el Tajo: Variantes para una Narrativa de la Identidad Nacional

    Directory of Open Access Journals (Sweden)

    Mirta Suquet Martínez

    2003-01-01

    Full Text Available A partir del estudio de valoraciones y juicios que han ido conformado el relato de nuestra identidad nacional (cubana, intento develar los procesos de construcción identitaria mediante los cuales hemos sido concebidos como el otro femenino de un sujeto masculino colonizador. Para ello abordo periodos históricos decisivos en la conformación de tal relato identitario (Conquista, Colonia, República, Revolución, y utilizo como fuentes para el análisis, fragmentos de textos narrativos, artículos de costumbres, conferencias, testimonios, en tre otros. De igual forma, pretendo demostrar cómo la adjudicación de cualidades femeninas al cubano varía a partir de 1959 como parte del nuevo proyecto de nación y del nuevo ideal de sujeto que se pretende alcanzar.

  18. La Hamaca o el Tajo: Variantes para una Narrativa de la Identidad Nacional

    OpenAIRE

    Mirta Suquet Martínez

    2003-01-01

    A partir del estudio de valoraciones y juicios que han ido conformado el relato de nuestra identidad nacional (cubana), intento develar los procesos de construcción identitaria mediante los cuales hemos sido concebidos como el otro femenino de un sujeto masculino colonizador. Para ello abordo periodos históricos decisivos en la conformación de tal relato identitario (Conquista, Colonia, República, Revolución), y utilizo como fuentes para el análisis, fragmentos de textos narrat...

  19. Variant Review with the Integrative Genomics Viewer.

    Science.gov (United States)

    Robinson, James T; Thorvaldsdóttir, Helga; Wenger, Aaron M; Zehir, Ahmet; Mesirov, Jill P

    2017-11-01

    Manual review of aligned reads for confirmation and interpretation of variant calls is an important step in many variant calling pipelines for next-generation sequencing (NGS) data. Visual inspection can greatly increase the confidence in calls, reduce the risk of false positives, and help characterize complex events. The Integrative Genomics Viewer (IGV) was one of the first tools to provide NGS data visualization, and it currently provides a rich set of tools for inspection, validation, and interpretation of NGS datasets, as well as other types of genomic data. Here, we present a short overview of IGV's variant review features for both single-nucleotide variants and structural variants, with examples from both cancer and germline datasets. IGV is freely available at https://www.igv.org Cancer Res; 77(21); e31-34. ©2017 AACR . ©2017 American Association for Cancer Research.

  20. Local binary patterns new variants and applications

    CERN Document Server

    Jain, Lakhmi; Nanni, Loris; Lumini, Alessandra

    2014-01-01

    This book introduces Local Binary Patterns (LBP), arguably one of the most powerful texture descriptors, and LBP variants. This volume provides the latest reviews of the literature and a presentation of some of the best LBP variants by researchers at the forefront of textual analysis research and research on LBP descriptors and variants. The value of LBP variants is illustrated with reported experiments using many databases representing a diversity of computer vision applications in medicine, biometrics, and other areas. There is also a chapter that provides an excellent theoretical foundation for texture analysis and LBP in particular. A special section focuses on LBP and LBP variants in the area of face recognition, including thermal face recognition. This book will be of value to anyone already in the field as well as to those interested in learning more about this powerful family of texture descriptors.

  1. Congenital anomalies and normal skeletal variants

    International Nuclear Information System (INIS)

    Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

    1987-01-01

    Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

  2. Una experiencia de campo con una cooperativa de promotores ambientales

    OpenAIRE

    Bazán, Claudia I.; Ferrari, Liliana

    2014-01-01

    La presente ponencia describe el trabajo que se está realizando con una cooperativa de promotores ambientes, El CorreCamino, cuya propuesta no es pensada como una actividad marginal sino que toma el proceso de reciclado como contribución social y enfatiza el papel activo del trabajador en solidaridad con los vecinos y el espacio ambiental. La metodología utilizada es la Investigación Acción Participativa (IAP) cuyo principal objetivo es aunar los ...

  3. Somatic cancer variant curation and harmonization through consensus minimum variant level data

    Directory of Open Access Journals (Sweden)

    Deborah I. Ritter

    2016-11-01

    Full Text Available Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG of the Clinical Genome Resource (ClinGen, in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD. MVLD is a framework of standardized data elements to curate cancer variants for clinical utility. With implementation of MVLD standards, and in a working partnership with ClinVar, we aim to streamline the somatic variant curation efforts in the community and reduce redundancy and time burden for the interpretation of cancer variants in clinical practice. Methods We developed MVLD through a consensus approach by i reviewing clinical actionability interpretations from institutions participating in the WG, ii conducting extensive literature search of clinical somatic interpretation schemas, and iii survey of cancer variant web portals. A forthcoming guideline on cancer variant interpretation, from the Association of Molecular Pathology (AMP, can be incorporated into MVLD. Results Along with harmonizing standardized terminology for allele interpretive and descriptive fields that are collected by many databases, the MVLD includes unique fields for cancer variants such as Biomarker Class, Therapeutic Context and Effect. In addition, MVLD includes recommendations for controlled semantics and ontologies. The Somatic WG is collaborating with ClinVar to evaluate MVLD use for somatic variant submissions. ClinVar is an open and centralized repository where sequencing laboratories can report summary-level variant data with clinical significance, and ClinVar accepts cancer variant data. Conclusions We expect the use of the MVLD to streamline clinical interpretation of cancer variants, enhance interoperability among multiple redundant curation efforts, and increase submission of

  4. Synthesis of spatially variant lattices.

    Science.gov (United States)

    Rumpf, Raymond C; Pazos, Javier

    2012-07-02

    It is often desired to functionally grade and/or spatially vary a periodic structure like a photonic crystal or metamaterial, yet no general method for doing this has been offered in the literature. A straightforward procedure is described here that allows many properties of the lattice to be spatially varied at the same time while producing a final lattice that is still smooth and continuous. Properties include unit cell orientation, lattice spacing, fill fraction, and more. This adds many degrees of freedom to a design such as spatially varying the orientation to exploit directional phenomena. The method is not a coordinate transformation technique so it can more easily produce complicated and arbitrary spatial variance. To demonstrate, the algorithm is used to synthesize a spatially variant self-collimating photonic crystal to flow a Gaussian beam around a 90° bend. The performance of the structure was confirmed through simulation and it showed virtually no scattering around the bend that would have arisen if the lattice had defects or discontinuities.

  5. Different Variants of Fundamental Portfolio

    Directory of Open Access Journals (Sweden)

    Tarczyński Waldemar

    2014-06-01

    Full Text Available The paper proposes the fundamental portfolio of securities. This portfolio is an alternative for the classic Markowitz model, which combines fundamental analysis with portfolio analysis. The method’s main idea is based on the use of the TMAI1 synthetic measure and, in limiting conditions, the use of risk and the portfolio’s rate of return in the objective function. Different variants of fundamental portfolio have been considered under an empirical study. The effectiveness of the proposed solutions has been related to the classic portfolio constructed with the help of the Markowitz model and the WIG20 market index’s rate of return. All portfolios were constructed with data on rates of return for 2005. Their effectiveness in 2006- 2013 was then evaluated. The studied period comprises the end of the bull market, the 2007-2009 crisis, the 2010 bull market and the 2011 crisis. This allows for the evaluation of the solutions’ flexibility in various extreme situations. For the construction of the fundamental portfolio’s objective function and the TMAI, the study made use of financial and economic data on selected indicators retrieved from Notoria Serwis for 2005.

  6. Ultrasonographic imaging of papillary thyroid carcinoma variants

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Jung Hee [Dept. of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2017-04-15

    Ultrasonography (US) is routinely used to evaluate thyroid nodules. The US features of papillary thyroid carcinoma (PTC), the most common thyroid malignancy, include hypoechogenicity, spiculated/microlobulated margins, microcalcifications, and a nonparallel orientation. However, many PTC variants have been identified, some of which differ from the classic type of PTC in terms of biological behavior and clinical outcomes. This review describes the US features and clinical implications of the variants of PTC. With the introduction of active surveillance replacing immediate biopsy or surgical treatment of indolent, small PTCs, an understanding of the US characteristics of PTC variants will facilitate the individualized management of patients with PTC.

  7. RAGE splicing variants in mammals.

    Science.gov (United States)

    Sterenczak, Katharina Anna; Nolte, Ingo; Murua Escobar, Hugo

    2013-01-01

    The receptor for advanced glycation end products (RAGE) is a multiligand receptor of environmental stressors which plays key roles in pathophysiological processes, including immune/inflammatory disorders, Alzheimer's disease, diabetic arteriosclerosis, tumorigenesis, and metastasis. Besides the full-length RAGE protein in humans nearly 20 natural occurring RAGE splicing variants were described on mRNA and protein level. These naturally occurring isoforms are characterized by either N-terminally or C-terminally truncations and are discussed as possible regulators of the full-length RAGE receptor either by competitive ligand binding or by displacing the full-length protein in the membrane. Accordingly, expression deregulations of the naturally occurring isoforms were supposed to have significant effect on RAGE-mediated disorders. Thereby the soluble C-truncated RAGE isoforms present in plasma and tissues are the mostly focused isoforms in research and clinics. Deregulations of the circulating levels of soluble RAGE forms were reported in several RAGE-associated pathological disorders including for example atherosclerosis, diabetes, renal failure, Alzheimer's disease, and several cancer types. Regarding other mammalian species, the canine RAGE gene showed high similarities to the corresponding human structures indicating RAGE to be evolutionary highly conserved between both species. Similar to humans the canine RAGE showed a complex and extensive splicing activity leading to a manifold pattern of RAGE isoforms. Due to the similarities seen in several canine and human diseases-including cancer-comparative structural and functional analyses allow the development of RAGE and ligand-specific therapeutic approaches beneficial for human and veterinary medicine.

  8. alumnos de una sola cultura?

    Directory of Open Access Journals (Sweden)

    Siegfried Boehm

    2006-01-01

    Full Text Available Dado que en la actualidad hay mayores posibilidades para practicar una lengua extranjera en su contexto natural con nativohablantes, es imprescindible poseer una cierta competencia intercultural a fin de que este diálogo pueda llevarse a cabo exitosamente. Sin embargo, los libros de texto convencionales editados en el país de origen de la lengua estudiada difícilmente pueden cubrir este requisito, puesto que las particularidades culturales de una sociedad sólo se vuelven interculturales al compararlas con la cultura de los alumnos. En el artículo presente se proponen varios ejercicios enfocados al aprendizaje intercultural en donde no sólo se aprenden las normas, reglas y actitudes de la cultura meta, en este caso de Alemania, Austria y Suiza, sino que también se estimula la reflexión sobre las de la cultura propia. Esta sensibilización cultural es indispensable para lograr una comunicación equitativa entre personas de diferentes culturas.

  9. Isolation of a variant of Candida albicans.

    Science.gov (United States)

    Buckley, H R; Price, M R; Daneo-Moore, L

    1982-01-01

    During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell. Images PMID:6752021

  10. Isolation of a variant of Candida albicans.

    Science.gov (United States)

    Buckley, H R; Price, M R; Daneo-Moore, L

    1982-09-01

    During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell.

  11. Genetic variants of ghrelin in metabolic disorders.

    Science.gov (United States)

    Ukkola, Olavi

    2011-11-01

    An increasing understanding of the role of genes in the development of obesity may reveal genetic variants that, in combination with conventional risk factors, may help to predict an individual's risk for developing metabolic disorders. Accumulating evidence indicates that ghrelin plays a role in regulating food intake and energy homeostasis and it is a reasonable candidate gene for obesity-related co-morbidities. In cross-sectional studies low total ghrelin concentrations and some genetic polymorphisms of ghrelin have been associated with obesity-associated diseases. The present review highlights many of the important problems in association studies of genetic variants and complex diseases. It is known that population-specific differences in reported associations exist. We therefore conclude that more studies on variants of ghrelin gene are needed to perform in different populations to get deeper understanding on the relationship of ghrelin gene and its variants to obesity. Copyright © 2011 Elsevier Inc. All rights reserved.

  12. TREM2 Variants in Alzheimer's Disease

    Science.gov (United States)

    Guerreiro, Rita; Wojtas, Aleksandra; Bras, Jose; Carrasquillo, Minerva; Rogaeva, Ekaterina; Majounie, Elisa; Cruchaga, Carlos; Sassi, Celeste; Kauwe, John S.K.; Younkin, Steven; Hazrati, Lilinaz; Collinge, John; Pocock, Jennifer; Lashley, Tammaryn; Williams, Julie; Lambert, Jean-Charles; Amouyel, Philippe; Goate, Alison; Rademakers, Rosa; Morgan, Kevin; Powell, John; St. George-Hyslop, Peter; Singleton, Andrew; Hardy, John

    2013-01-01

    BACKGROUND Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genotyped the R47H variant in an additional 1887 cases and 4061 controls. We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice. RESULTS We found significantly more variants in exon 2 of TREM2 in patients with Alzheimer's disease than in controls in the discovery set (P = 0.02). There were 22 variant alleles in 1092 patients with Alzheimer's disease and 5 variant alleles in 1107 controls (P<0.001). The most commonly associated variant, rs75932628 (encoding R47H), showed highly significant association with Alzheimer's disease (P<0.001). Meta-analysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (P = 0.002), as did direct genotyping of an additional series of 1887 patients with Alzheimer's disease and 4061 controls (P<0.001). Trem2 expression differed between control mice and a mouse model of Alzheimer's disease. CONCLUSIONS Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease. (Funded by Alzheimer's Research UK and others.) PMID:23150934

  13. CARACTERIZACIÓN BIOLÓGICA DE VARIANTES DE PLACA DE LA CEPA VACUNAL 17D CONTRA LA FIEBRE AMARILLA

    Directory of Open Access Journals (Sweden)

    María Rojas

    2009-09-01

    Full Text Available La vacuna colombiana 17D, contiene por lo menos cuatro fenotipos, denominados pequeño (0.3 – 1.2 mm, mediano (1.3 – 2.1 mm, grande (2.2 – 3.0 mm y extragrande (>3.1 mm. La composición y distribución porcentual de esos fenotipos, varió entre lotes y entre ampolletas de un mismo lote. Cada variante fue clonada por dilución de la vacuna y su efecto virulento fue analizado en ratones; el fenotipo de placa pequeño estuvo ligeramente sub representado en los lotes analizados y mostró una virulencia similar a la de la cepa silvestre neurotrópica Francesa (LD50 > 10-6, mientras que el fenotipo predominante y mas atenuado fue el mediano (LD50: 10-4. Los fenotipos grande y extragrande mostraron una virulencia intermedia (LD 50: 10 – 5  con relación a los anteriores. Los análisis de secuencia de las variantes sobre una región comprendida entre el extremo 3´NS5 y el inicio de 3´NCR, mostró la cercanía entre aquellas variantes con algún grado de virulencia, y entre la variante atenuada y la vacuna colombiana. La heterogeneidad de la vacuna 17D, constituye una evidencia de la estructura de quasiespecies propia de los virus RNA y señala cómo los casos de reacciones post vacunales  adversas pueden estar asociados con la aplicación de vacunas fabricadas a partir de cepas virales atenuadas.  

  14. Beta-glucosidase variants and polynucleotides encoding same

    Science.gov (United States)

    Wogulis, Mark; Harris, Paul; Osborn, David

    2017-06-27

    The present invention relates to beta-glucosidase variants, e.g. beta-glucosidase variants of a parent Family GH3A beta-glucosidase from Aspergillus fumigatus. The present invention also relates to polynucleotides encoding the beta-glucosidase variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the beta-glucosidase variants.

  15. Una minga para el posdesarrollo

    Directory of Open Access Journals (Sweden)

    Arturo Escobar

    2011-01-01

    Full Text Available El artículo sintetiza algunas conclusiones a las que han llegado movimientos sociales y académicos en las últimas dos décadas al reflexionar sobre la globalización y sus implicaciones; el modelo dominante, basado en las nociones de "desarrollo" y "modernidad", ha entrado en crisis. Por lo tanto, se hace necesario avanzar en una transición cultural que se pueda comprender como un cambio de época y no sólo como una época de cambios. Para llevar a cabo esta transformación, se deben resolver las con-tradicciones existentes entre el neodesarrollismo y el postdesarrollo, por supuesto, a favor de éste último.

  16. Una entrada popular al Internet

    Directory of Open Access Journals (Sweden)

    Bruce Girard

    2015-01-01

    Full Text Available El Internet ofrece la posibilidad de una comunicación rápida y económica. El proyecto de AMARC y CEDEP (Ecuador financiado, en parte, por el Buró Canadiense de Educación Internacional, busca aprovechar esta posibilidad para proporcionar un servicio de noticias a las radios comunitarias de la región.

  17. "Rera": historia de una palabra

    OpenAIRE

    Fradejas Lebrero, José

    2011-01-01

    Se analiza una palabra que es un hapax legomenon que solo se documenta en la Vita Beata de Juan de Lucena y se establece, a partir de ella, que el étimo propuesto para algunos derivados es erróneo. It is analyzed a word that is only attested in Juan de Lucena's Vita Beata, and it is established that the proposed etymon for some of it reflexes is mistaken.

  18. Sarcoidosis aguda: Variante de Síndrome de Löfgren sin eritema nodoso

    OpenAIRE

    Pérez, Gerardo; Facal, Jorge

    2014-01-01

    El síndrome de Löfgren, es una variante aguda de la sarcoidosis, que se caracteriza por fiebre, eritema nodoso, adenomegalias hiliares pulmonares y artritis. En general, tiene un curso benigno y autolimitado, que contrasta con las formas crónicas que requieren uso de corticoides y tienen tendencia a la recidiva. Se describe aquí el caso clínico de un paciente joven, de sexo masculino, con artritis pero sin eritema nodoso, lo que dificultó el planteo diagnóstico de síndrome de Löfgren. Se real...

  19. Sevilla, una encrucijada de caminos

    Directory of Open Access Journals (Sweden)

    Manuel Martín Martin

    2009-01-01

    Full Text Available El mundo del flamenco, tan acostumbrado a contemplar la historia del género como una sucesión de nombres distinguidos que, por su significación expresiva o por su carácter de maestría incontestable, simbolizan una época, olvida con frecuencia el universo en que esa constelación de estrellas irradia su luminosidad más intensa, esto es, relega a un rol de menor importancia el ámbito en que se desarrollaron unos talentos especiales que, a lapostre, describirían situaciones y formas que el tiempo estimaría de verdadera trascendencia. Sin ánimo de caer en un determinismo localista demasiado forzoso, justo es decir que uno de los más grandes milagros de la música flamenca, se llama Sevilla, su barrio de Triana y muchos pueblos de la provincia. Una unidad demográfica que ofrece en grado sumo el origen de la complacencia en los goces de los sentidos.

  20. Una Utopia Factible: Latin Vision

    Directory of Open Access Journals (Sweden)

    Peter Schenkel

    2015-01-01

    Full Text Available Que la información de noticiero de radio y televisión oficiales en la mayoría de los países latinoamericanos, no brilla precisamente por su imparcialidad. Además los noticieros con información sobre actividades, políticas y criterios de entidades públicas difunden un punto de vista que no es necesariamente compartido por sectores políticos y económicos de la sociedad civil y que tampoco refleja necesariamente lo que ocurre en un país. Este es un hecho comprobado hasta la saciedad y constituye un problema que exigirá que las contribuciones al programa común se distingan por una excelente selección representativa del multifacético acontecer diario de una nación. Las estadísticas de otros sistemas como EUROVISION y ASIAVISION muestran que una noticia se difunde más si es oportuna - "caliente"-, objetiva y presentada con calidad.

  1. Word Variant Identification in Old French

    Directory of Open Access Journals (Sweden)

    Peter Willett

    1997-01-01

    Full Text Available Increasing numbers of historical texts are available in machine-readable form, which retain the original spelling, which can be very different from the modern-day equivalents due to the natural evolution of a language, and because the concept of standardisation in spelling is comparatively modern. Among medieval vernacular writers, the same word could be spelled in different ways and the same author (or scribe might even use several alternative spellings in the same passage. Thus, we do not know,a priori, how many variant forms of a particular word there are in such texts, let alone what these variants might be. Searching on the modern equivalent, or even the commonest historical variant, of a particular word may thus fail to retrieve an appreciable number of occurrences unless the searcher already has an extensive knowledge of the language of the documents. Moreover, even specialist scholars may be unaware of some idiosyncratic variants. Here, we consider the use of computer methods to retrieve variant historical spellings.

  2. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

    DEFF Research Database (Denmark)

    Ahlborn, Lise B; Dandanell, Mette; Steffensen, Ane Y

    2015-01-01

    by functional analysis at the protein level. Results from a validated mini-gene splicing assay indicated that nine BRCA1 variants resulted in splicing aberrations leading to truncated transcripts and thus can be considered pathogenic (c.4987A>T/p.Met1663Leu, c.4988T>A/p.Met1663Lys, c.5072C>T/p.Thr1691Ile, c......Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently...... needed to classify whether these uncertain variants are pathogenic or benign. In this study, we investigated 14 BRCA1 variants by in silico splicing analysis and mini-gene splicing assay. All 14 alterations were missense variants located within the BRCT domain of BRCA1 and had previously been examined...

  3. Genetics in psychiatry: common variant association studies

    Directory of Open Access Journals (Sweden)

    Buxbaum Joseph D

    2010-03-01

    Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

  4. Hemoglobin Variants: Biochemical Properties and Clinical Correlates

    Science.gov (United States)

    Thom, Christopher S.; Dickson, Claire F.; Gell, David A.; Weiss, Mitchell J.

    2013-01-01

    Diseases affecting hemoglobin synthesis and function are extremely common worldwide. More than 1000 naturally occurring human hemoglobin variants with single amino acid substitutions throughout the molecule have been discovered, mainly through their clinical and/or laboratory manifestations. These variants alter hemoglobin structure and biochemical properties with physiological effects ranging from insignificant to severe. Studies of these mutations in patients and in the laboratory have produced a wealth of information on hemoglobin biochemistry and biology with significant implications for hematology practice. More generally, landmark studies of hemoglobin performed over the past 60 years have established important paradigms for the disciplines of structural biology, genetics, biochemistry, and medicine. Here we review the major classes of hemoglobin variants, emphasizing general concepts and illustrative examples. PMID:23388674

  5. [Clinico-pathogenetic variants of chronic gastritis].

    Science.gov (United States)

    Chernin, V V; Dzhulaĭ, G S

    2004-01-01

    To evaluate specific features of the course of chronic gastritis (CG), morphofunctional condition of gastric mucosa, vegetative regulation, adrenergic and cholinergic shifts, histamine metabolism and effects of exogenic and endogenic risk factors in CG patients; to study clinicopathogenetic variants of CG. A total of 311 CG patients aged from 16 to 72 years were studied. They were divided into three groups by their gastric mucosa condition. The control group consisted of 30 healthy donors. The following parameters were studied: visual and histological condition of gastric mucosa, total acidity, the levels of free hydrochloric acid, pepsin, bioelectric gastric activity, general autonomic tonicity, cholinesterase activity. Three clinicopathogenetic variants of the disease have been identified. Variant 1 was characterized by a recurrent course, subjective manifestation of the disease only in exacerbation, surface (primarily antral) mucosal affection, normal or enhanced secretory and motor functions of the stomach, adequate reaction of acid production to caffeine and histamine stimulation, parasympathicotonia, absolute hyperhistaminemia, relative hypoacetylcholinemia, subnormal urinary excretion of adrenalin. Variant 2 manifested with rare recurrences, longer and more severe exacerbations, frequent spontaneous and provoked aggravations, moderate focal atrophy of the mucosa, secretory insufficiency with adequate reaction to histamine and minor to caffeine stimuli, hypomotor gastric dyskinesia, vegetative eutonia, normohistaminemia, absolute hypoacetylcholinemia, subnormal urinary excretion of noradrenaline. Variant 3 runs without definite remissions and exacerbations, with continuous abdominal pain and dyspepsia, frequent spontaneous aggravations, marked extended mucosal atrophy with secretory insufficiency up to achlorhydria, no stimulation of acid production in response to caffeine and histamine, gastric hypomotility, sympathicotonia, absolute hypohistaminemia

  6. Normal variants of skin in neonates

    Directory of Open Access Journals (Sweden)

    Kulkarni M

    1996-01-01

    Full Text Available 2221 consecutive live births taking place between March 1994 and February 1995 were evaluated for a minimum period of 5 days to note for the occurrence of various normal anatomical variants specially those of skin. Birth weight, gestational age, maternal age, socio-economic status and consanguinity were carefully recorded in all the cases. Mongolian spots (72%, Epstein pearls (43.8%, Milia (26.2% and Erythema toxicum (25.2%, were the common dermatological variants noted. Maturity of the babies and possibly genetic factors (consanguinity are important factors in their causation as ordered in our study.

  7. Desarrollo de una prueba de comprensión audiovisual

    Directory of Open Access Journals (Sweden)

    Casañ Núñez, Juan Carlos

    2016-06-01

    Full Text Available Este artículo forma parte de una investigación doctoral que estudia el uso de preguntas de comprensión audiovisual integradas en la imagen del vídeo como subtítulos y sincronizadas con los fragmentos de vídeo relevantes. Anteriormente se han publicado un marco teórico que describe esta técnica (Casañ Núñez, 2015b y un ejemplo en una secuencia didáctica (Casañ Núñez, 2015a. El presente trabajo detalla el proceso de planificación, diseño y experimentación de una prueba de comprensión audiovisual con dos variantes que será administrada junto con otros instrumentos en estudios cuasiexperimentales con grupos de control y tratamiento. Fundamentalmente, se pretende averiguar si la subtitulación de las preguntas facilita la comprensión, si aumenta el tiempo que los estudiantes miran en dirección a la pantalla y conocer la opinión del grupo de tratamiento sobre esta técnica. En la fase de experimentación se efectuaron seis estudios. En el último estudio piloto participaron cuarenta y un estudiantes de ELE (veintidós en el grupo de control y diecinueve en el de tratamiento. Las observaciones de los informantes durante la administración de la prueba y su posterior corrección sugirieron que las indicaciones sobre la estructura del test, las presentaciones de los textos de entrada, la explicación sobre el funcionamiento de las preguntas subtituladas para el grupo experimental y la redacción de los ítems resultaron comprensibles. Los datos de las dos variantes del instrumento se sometieron a sendos análisis de facilidad, discriminación, fiabilidad y descriptivos. También se calcularon las correlaciones entre los test y dos tareas de un examen de comprensión auditiva. Los resultados mostraron que las dos versiones de la prueba estaban preparadas para ser administradas.

  8. Una nueva ópera

    Directory of Open Access Journals (Sweden)

    José Sánchez Sanz

    2016-05-01

    Full Text Available Si algo ha marcado al género operístico desde sus inicios ha sido el público que ha asistido a los espectáculos que se representaban en sus teatros. En el siglo XX, con la aparición del cine, la ópera sufre una crisis de audiencia, el público tiene un espectáculo masivo al que asistir, más económico y más cercano al consumo cultural dominante. La ópera pasa a convertirse en un espacio para una élite capaz de pagar los altos precios de los abonos. En la actualidad diversas decisiones tomadas por teatros de ópera están provocando que el interés por el género crezca en una sociedad posmoderna en la que la tecnología parece haber agotado los límites espaciales y temporales. Óperas con libretos basados en películas o en personajes de la contemporaneidad, que exhiben prodigios técnicos visuales y sonoros, realizados éstos por grandes figuras del arte y del diseño. Un concepto de la ópera que vuelve a ser un espectáculo que abarca todas las disciplinas, y que ha asumido la evolución que la tecnología ha aportado a éstas con total naturalidad. 

  9. The curation of genetic variants: difficulties and possible solutions.

    Science.gov (United States)

    Pandey, Kapil Raj; Maden, Narendra; Poudel, Barsha; Pradhananga, Sailendra; Sharma, Amit Kumar

    2012-12-01

    The curation of genetic variants from biomedical articles is required for various clinical and research purposes. Nowadays, establishment of variant databases that include overall information about variants is becoming quite popular. These databases have immense utility, serving as a user-friendly information storehouse of variants for information seekers. While manual curation is the gold standard method for curation of variants, it can turn out to be time-consuming on a large scale thus necessitating the need for automation. Curation of variants described in biomedical literature may not be straightforward mainly due to various nomenclature and expression issues. Though current trends in paper writing on variants is inclined to the standard nomenclature such that variants can easily be retrieved, we have a massive store of variants in the literature that are present as non-standard names and the online search engines that are predominantly used may not be capable of finding them. For effective curation of variants, knowledge about the overall process of curation, nature and types of difficulties in curation, and ways to tackle the difficulties during the task are crucial. Only by effective curation, can variants be correctly interpreted. This paper presents the process and difficulties of curation of genetic variants with possible solutions and suggestions from our work experience in the field including literature support. The paper also highlights aspects of interpretation of genetic variants and the importance of writing papers on variants following standard and retrievable methods. Copyright © 2012. Published by Elsevier Ltd.

  10. Diario de una infancia. Mariana

    OpenAIRE

    Casal, Silvana

    2017-01-01

    Resumen: Este artículo está centrado en el análisis del diario de infancia que una de mis entrevistadas, Mariana, escribió durante su niñez en la dictatorial República Argentina a partir del secuestro de su padre, producido en 1977, situación que dio pie al exilio familiar en México. Mariana nos permite entrar en su universo, conocer sus sentimientos y emociones, y acercarnos -a través de sus palabras plasmadas en las cartas que le escribe a su padre desaparecido- a su vida cotidiana y a trav...

  11. Atresia biliar: una enfermedad grave

    OpenAIRE

    Ramonet, Margarita; Ciocca, Mirta; Alvarez, Fernando

    2014-01-01

    La atresia biliar es una grave enfermedad que se manifiesta en los recién nacidos, y se desconoce su causa. La inflamación y destrucciónprogresiva de los conductos biliares conducen a la aparición de ictericia, coluria y acolia entre la segunda y sexta semana de vida. Como existen múltiples causas de colestasis neonatal en esta etapa de la vida, es necesario realizar un diagnóstico y derivación precoz para ofrecer un tratamiento quirúrgico, con el fin de restablecer el flujo biliar. Alrededor...

  12. Feronia Inc : una diosa desnuda

    OpenAIRE

    Muntané Puig, Joaquim

    2015-01-01

    El informe cuenta con la colaboración de Devlin Kuyek (GRAIN), Carles Soler (Revista SABC), Liliane Spendeler (Amigos de la Tierra), Guadalupe Rodríguez (Salva la Selva) y Jean-François Mombia (RIAO-RDC). Este informe sigue el hilo de las actividades de la compañía Feronia Inc. para descubrir cómo unas plantaciones congoleñas de palma de aceite conectan de forma muy directa con la alimentación y los bolsillos de la ciudadanía española. El caso se muestra como un ejemplo concreto de un fenó...

  13. Pesquisas, recuerdos y una entrevista

    OpenAIRE

    Blasco, Selina

    2009-01-01

    Estudio del trabajo desarrollado por los arquitectos Luis M. Feduchi, Javier Feduchi y Pedro Feduchi en el ámbito del diseño. Sus trayectorias profesionales, a veces entrecruzadas, son el punto de partida de una reflexión, situada histórica y espacialmente en el Madrid del siglo XX, acerca de diversos ámbitos disciplinares (diseño de mobiliario, interiorismo, decorados cinematográficos, montajes de exposiciones, museografías, dispositivos para la exposición y venta en centros comerciales, ent...

  14. Seguridad en una red universitaria

    OpenAIRE

    Bernal España, Juan Antonio

    2014-01-01

    Las redes de comunicaciones son muy importantes para las empresas. Se solicita una red de altas prestaciones que pueda llevar muchos sistemas sobre ella (cámaras de seguridad, video, voz, datos, SCADA, wifi). Ahora también necesitamos que la red sea segura. Cuando hablamos de seguridad no solo nos referimos a evitar ataques o virus, también hablamos de cómo puede afectarnos el incendio de un centro de proceso de datos. Basándonos en la ISO 27001:2013 daremos las principales pau...

  15. Una nueva forma de conflicto

    Directory of Open Access Journals (Sweden)

    SALUSTIANO DEL CAMPO

    2002-01-01

    Full Text Available Con el ataque del 11 de septiembre al World Trade Center, el siglo XXI ha empezado con una nueva forma de conflicto y un realineamiento global. Samuel P. Huntington (1993 describió esto como un choque de civilizaciones entre el islam y occidente, pero se argumenta que esto es una simplificación. Otros factores a tener en cuenta son la coexistencia de las sociedades modernas y postmodernas, la desigual distribución de la riqueza, los conflictos internacionales insolubles de larga duración y la condición del islam en diferentes países. Se discute el impacto de la futura diseminación de la tecnología de la información en la resolución de algunas de estas diferencias. Recientemente se han desmantelado anteriores redes internacionales e instituciones. Coexisten redes legales e ilegales de negocios y organizaciones. En el caso de las redes terroristas, es muy complicado identifcarlas, atacarlas y desactivarlas. En el proceso de combatir al terrorismo no deberían sacrificarse los derechos fundamentales democráticos.

  16. Diario de una infancia. Mariana

    Directory of Open Access Journals (Sweden)

    Silvana Beatriz Casal

    2017-09-01

    Full Text Available Este artículo está centrado en el análisis del diario de infancia que una de mis entrevistadas, Mariana, escribió durante su niñez en la dictatorial República Argentina a partir del secuestro de su padre, producido en 1977, situación que dio pie al exilio familiar en México. Mariana nos permite entrar en su universo, conocer sus sentimientos y emociones, y acercarnos –a través de sus palabras plasmadas en las cartas que le escribe a su padre desaparecido– a su vida cotidiana y a través de ella a la de muchos otros niños que vivieron situaciones de violencia similares. Mi propósito es enfatizar que los niños son actores sociales y su aporte es vital en la construcción de una historia que los incluya como agentes activos. Abordaré la importancia histórica de escuchar la voz de los niños y el significado de acceder a escritos elaborados por ellos mismos durante la infancia.

  17. Diseño de una red WAN

    OpenAIRE

    Labella Sanz, Gabriel

    2010-01-01

    Disseny d'una xarxa WAN, formada per una xarxa d'Accés HFC, una xarxa de Commutació ATM i una xarxa de Transport SDH. Diseño de una red WAN, formada por una red de Acceso HFC, una red de Conmutación ATM y una red de Transporte SDH. WAN network design consisting of a HFC access network, an ATM switching network and a SDH transport network.

  18. Magnetic resonance angiography: infrequent anatomic variants

    International Nuclear Information System (INIS)

    Trejo, Mariano; Meli, Francisco; Lambre, Hector; Blessing, Ricardo; Gigy Traynor, Ignacio; Miguez, Victor

    2002-01-01

    We studied through RM angiography (3D TOF) with high magnetic field equipment (1.5 T) different infrequent intracerebral vascular anatomic variants. For their detection we emphasise the value of post-processed images obtained after conventional angiographic sequences. These post-processed images should be included in routine protocols for evaluation of the intracerebral vascular structures. (author)

  19. Report of a rare anatomic variant

    DEFF Research Database (Denmark)

    De Brucker, Y; Ilsen, B; Muylaert, C

    2015-01-01

    We report the CT findings in a case of partial anomalous pulmonary venous return (PAPVR) from the left upper lobe in an adult. PAPVR is an anatomic variant in which one to three pulmonary veins drain into the right atrium or its tributaries, rather than into the left atrium. This results in a left...

  20. Analysis of the energy development variants

    International Nuclear Information System (INIS)

    Tsvetanov, P.

    1990-01-01

    Analysis of the variants of energy development is made as the third stage of a procedure of energy-economy interrelations dynamics study, the other two stages being the scenarios description and the formulation of the variants. This stage includes a research on the dimensions and the dynamics of the resources demands, the general features and the trends of the national energy development. There is a presentation of a comparative analysis of the variants in terms of economic indices and energy values, computed by the model IMPACT-B. A resource evaluation of the development variants is given in terms of investments, requirements (direct, indirect and total) and limited national resources demands of the energy system. The trends of the national energy development discussed are: trends characterizing the changes in the structure of the energy consumption, resulting from changes in the economy; trends of the energy system impact on the productivity of labor; general trends of the proportionality in the industrial, the household and services sector development. 16 refs., 16 figs., 4 tabs. (R.Ts.)

  1. Cellobiohydrolase I gene and improved variants

    Science.gov (United States)

    Adney, William S [Golden, CO; Decker, Stephen R [Berthoud, CO; Mc Carter, Suzanne [San Carlos, CA; Baker, John O [Golden, CO; Nieves, Raphael [Lakewood, CO; Himmel, Michael E [Littleton, CO; Vinzant, Todd B [Golden, CO

    2008-05-20

    The disclosure provides a method for preparing an active exoglucanase in a heterologous host of eukaryotic origin. The method includes mutagenesis to reduce glycosylation of the exoglucanase when expressed in a heterologous host. It is further disclosed a method to produce variant cellobiohydrolase that is stable at high temperature through mutagenesis.

  2. XVCL: XML-based Variant Configuration Language

    DEFF Research Database (Denmark)

    Jarzabek, Stan; Basset, Paul; Zhang, Hongyu

    2003-01-01

    XVCL (XML-based Variant Configuration Language) is a meta-programming technique and tool that provides effective reuse mechanisms. XVCL is an open source software developed at the National University of Singapore. Being a modern and versatile version of Bassett's frames, a technology that has...

  3. Glucose 6-phosphate dehydrogenase variants in Japan.

    Science.gov (United States)

    Miwa, S

    1980-01-01

    Fifty-four cases of glucose 6-phosphate dehydrogenase (G6PD) deficiency have so far been reported in Japan. Among them, 21 G6PD variants have been characterized. Nineteen out of the 21 variants were characterized in our laboratory and G6PD Heian and "Kyoto" by others. G6PD Tokyo, Tokushima, Ogikubo, Kurume, Fukushima, Yokohama, Yamaguchi, Wakayama, Akita, Heian and "Kyoto" were classified as Class 1, because all these cases showed chronic hemolytic anemia and severe enzyme deficiency. All these variants showed thermal instability. G6PD Mediterranean-like, Ogori, Gifu and Fukuoka were classified as Class 2, whereas G6PD Hofu, B(-) Chinese, Ube, Konan, Kamiube and Kiwa belonged to Class 3. All the 6 Class 3 variants were found as the results of the screening tests. The incidence of the deficiency in Japanese seems to be 0.1-0.5% but that of the cases which may slow drug-induced hemolysis would be much less. G6PD Ube and Konan appear to be relatively common in Japan.

  4. Genetic variants influencing phenotypic variance heterogeneity.

    Science.gov (United States)

    Ek, Weronica E; Rask-Andersen, Mathias; Karlsson, Torgny; Enroth, Stefan; Gyllensten, Ulf; Johansson, Åsa

    2018-03-01

    Most genetic studies identify genetic variants associated with disease risk or with the mean value of a quantitative trait. More rarely, genetic variants associated with variance heterogeneity are considered. In this study, we have identified such variance single-nucleotide polymorphisms (vSNPs) and examined if these represent biological gene × gene or gene × environment interactions or statistical artifacts caused by multiple linked genetic variants influencing the same phenotype. We have performed a genome-wide study, to identify vSNPs associated with variance heterogeneity in DNA methylation levels. Genotype data from over 10 million single-nucleotide polymorphisms (SNPs), and DNA methylation levels at over 430 000 CpG sites, were analyzed in 729 individuals. We identified vSNPs for 7195 CpG sites (P mean DNA methylation levels. We further showed that variance heterogeneity between genotypes mainly represents additional, often rare, SNPs in linkage disequilibrium (LD) with the respective vSNP and for some vSNPs, multiple low frequency variants co-segregating with one of the vSNP alleles. Therefore, our results suggest that variance heterogeneity of DNA methylation mainly represents phenotypic effects by multiple SNPs, rather than biological interactions. Such effects may also be important for interpreting variance heterogeneity of more complex clinical phenotypes.

  5. Genetic variants associated with lung function

    DEFF Research Database (Denmark)

    Thyagarajan, Bharat; Wojczynski, Mary; Minster, Ryan L

    2014-01-01

    with exceptional longevity have not been identified. METHOD: We conducted a genome wide association study (GWAS) to identify novel genetic variants associated with lung function in the Long Life Family Study (LLFS) (n = 3,899). Replication was performed using data from the CHARGE/SpiroMeta consortia...

  6. Santiago, una ciudad con temor

    Directory of Open Access Journals (Sweden)

    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.

  7. 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.

  8. El derecho a una vivienda

    Directory of Open Access Journals (Sweden)

    John GLEDHILL

    2010-11-01

    Full Text Available El derecho a la vivienda es un derecho humano básico recogido en las declaraciones internacionales y muchas constituciones nacionales. Del él puede hacerse también una lectura “burguesa”, como fundamento de la democracia liberal basada en la propiedad privada, con interesantes consecuencias cuando los ciudadanos ven que sus derechos son violados. Este artículo explora cómo va cambiando la definición del derecho a la vivienda a través de la agenda de ONU–Hábitat, y discute los puntos fuertes y débiles de este programa desde una perspectiva antropológica. El análisis incide sobre el hecho de que gran parte de la población mundial ha tenido que encontrar sus propias soluciones a los problemas de vivienda, y aborda los debates en torno a la “regularización” de los asentamientos, la tierra y las viviendas “informales”, a los mercados de la vivienda, y a las implicaciones sociales de los diferentes enfoques al respecto. Se sostiene que el enfoque de las Naciones Unidas, a pesar de su énfasis en la planificación participativa y la universalización del derecho a la ciudad, sigue marginando aspectos más complejos que surgen de las relaciones entre la vivienda, el hábitat y los patrones de sociabilidad. El artículo concluye con la consideración de las condiciones a las que se enfrentan los movimientos sociales que luchan por el derecho a la ciudad, en un contexto de regeneración urbana y gentrificación basado en la clase social, incorporando la comprensión de los procesos microsociales que ofrece la investigación etnográfica, desde una perspectiva multidimensional, sobre las relaciones de poder que han estructurado el reciente desarrollo de las ciudades metropolitanas.

  9. Influenza A (H3N2) Variant Virus

    Science.gov (United States)

    ... Swine Variant Pandemic Other Influenza A (H3N2) Variant Virus Language: English (US) Español Recommend on Facebook Tweet Share Compartir Influenza viruses that normally circulate in pigs are called “variant” ...

  10. Treatment of spelling variants in Setswana monolingual dictionaries

    African Journals Online (AJOL)

    user

    . ..... Table 8: Variants of Names of persons and places. Setswana variants. English. Aforika, Aferika. Africa. Baebele, Babele, Beibele. Bible. Ennyelane, Engelane ..... MWEs. As in variation amongst individual words, the MWEs such as idioms.

  11. una aproximación

    Directory of Open Access Journals (Sweden)

    Roberto González Arana

    2007-01-01

    Full Text Available Este trabajo se propone analizar la dinámica actual de las relaciones entre Colombia y los Estados Unidos, las negociaciones de cara al Tratado de Libre Comercio y la influencia del conflicto colombiano en el tipo de relaciones políticas y económicas bilaterales. Los recientes cambios políticos en la región afectan no sólo las relaciones bilaterales entre Colombia y sus vecinos sino también tienen una incidencia en las relaciones con los Estados Unidos. Para ello, se evalúan las particularidades de la política de Seguridad Democrática y el estado de las relaciones entre Colombia y Estados Unidos durante la administración del presidente Álvaro Uribe.

  12. Una mirada a las competencias

    Directory of Open Access Journals (Sweden)

    Germán Albeiro Castaño Duque

    2013-07-01

    Full Text Available El concepto de competencias cobra cada vez más fuerza y se extiende cada vez más en diferentes ámbitos y niveles. El presente artículo efectúa un breve recorrido por algunos autores de renombre que han hablado sobre el tema, hace referencia a la necesidad que tiene la universidad de flexibilizar sus currículos para responder a las nuevas demandas de la sociedad del conocimiento y la globalización, de manera que favorezcan el perfil ocupacional de sus egresados mediante la formación en competencias y, además, da una muestra clara de cómo se está llevando a cabo este proceso en la Universidad Nacional de Colombia e indica, finalmente, un breve esbozo de cómo será la educación del futuro.

  13. Combined analyses of 20 common obesity susceptibility variants

    DEFF Research Database (Denmark)

    Sandholt, Camilla Helene; Sparsø, Thomas; Grarup, Niels

    2010-01-01

    Genome-wide association studies and linkage studies have identified 20 validated genetic variants associated with obesity and/or related phenotypes. The variants are common, and they individually exhibit small-to-modest effect sizes.......Genome-wide association studies and linkage studies have identified 20 validated genetic variants associated with obesity and/or related phenotypes. The variants are common, and they individually exhibit small-to-modest effect sizes....

  14. La Tuberculosis, Una Enfermedad Modificada*

    Directory of Open Access Journals (Sweden)

    Valentin Malagón Castro

    1993-12-01

    Full Text Available

    Con ocasión de un estudio de revisión que hemos llevado a cabo recientemente sobre la tuberculosis osteoarticular, *** se ha apreciado un cambio notable en las características y manifestaciones de esta enfermedad.

    Hemos sido testigos del comportamiento de la tuberculosis en los últimos 40 años. Realizamos la tesis profesional en el Hospital de niños de la Misericordia de Bogotá en el año 1950 (86, basada en el análisis de más de 300 enfermos de Mal de Pott tratados con pobres resultados en esa institución en la época prequimioterápica. Efectuamos estudios de control del tratamiento quirúrgico de esa afección en el Hospital Infantil Lorencita Villegas de Santos y publicamos sus resultados en los años 1975,1980 Y1987 (85-87-88. Los pacientes correspondientes a estas nuevas series, ya en la época de la quimioterapia moderna, presentaban un mejor pronóstico vital y funcional. Cuadro 1A.

    En el decenio 1978-1988 asistimos al descenso espectacular de la frecuencia de tuberculosis osteoarticular en las salas de nuestros hospitales. Posteriormente hemos sido igualmente testigos de su lenta y progresiva reaparición.

    El estudio actual nos ha mostrado profundos cambios, como ya se ha dicho, en el comportamiento de la entidad, por lo que estamos de acuerdo en denominarla: La tuberculosis, una enfermedad modificada, diferente a la que hasta hace un década parecía derrotada, vencida por las nuevas drogas y las recientes técnicas quirúrgicas.

    La actual es una enfermedad diferente que ha tomado una fuerza avasalladora que amenaza con volverse resistente al tratamiento específico y dar lugar a una pandemia de incalculables proporciones y de terribles consecuencias para la humanidad.

    El objeto de publicar este estudio es recordar a nuestros colegas, en especial a aquellos de las nuevas promociones que quizás no han tenido la oportunidad de estar en contacto con pacientes de tuberculosis osteoarticular, de

  15. Development of industrial variant specification systems

    DEFF Research Database (Denmark)

    Hansen, Benjamin Loer

    be developed from a holistic and strategically anchored point of view. Another assumption is that this is a challenge for many industrial companies. Even though the literature presents many considerations on general issues covering new information technology, little work is found on the business perspectives...... are discussed. A list of structural variables and solution components has been created. These are related to four design aspects in the holistic system design covering the aspects of process design, selection of resources (such as hardware, software and humans), the design of information structures...... solution elements and structural variables to be used in the design of variant specification systems. The thesis presents a “top-down” procedure to be used to develop variant specification systems from a strategically anchored and holistic point of view. A methodology and related task variables...

  16. The Saccharomyces Genome Database Variant Viewer.

    Science.gov (United States)

    Sheppard, Travis K; Hitz, Benjamin C; Engel, Stacia R; Song, Giltae; Balakrishnan, Rama; Binkley, Gail; Costanzo, Maria C; Dalusag, Kyla S; Demeter, Janos; Hellerstedt, Sage T; Karra, Kalpana; Nash, Robert S; Paskov, Kelley M; Skrzypek, Marek S; Weng, Shuai; Wong, Edith D; Cherry, J Michael

    2016-01-04

    The Saccharomyces Genome Database (SGD; http://www.yeastgenome.org) is the authoritative community resource for the Saccharomyces cerevisiae reference genome sequence and its annotation. In recent years, we have moved toward increased representation of sequence variation and allelic differences within S. cerevisiae. The publication of numerous additional genomes has motivated the creation of new tools for their annotation and analysis. Here we present the Variant Viewer: a dynamic open-source web application for the visualization of genomic and proteomic differences. Multiple sequence alignments have been constructed across high quality genome sequences from 11 different S. cerevisiae strains and stored in the SGD. The alignments and summaries are encoded in JSON and used to create a two-tiered dynamic view of the budding yeast pan-genome, available at http://www.yeastgenome.org/variant-viewer. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

  17. Angiography of histopathologic variants of synovial sarcoma

    International Nuclear Information System (INIS)

    Lois, J.F.; Fischer, H.J.; Mirra, J.M.; Gomes, A.S.; California Univ., Los Angeles

    1986-01-01

    Synovial sarcomas are rare soft tissue tumors which histopathologically can be divided into monophasic, biphasic and mixed variants. As part of a protocol for intra-arterial chemotherapy 12 patients with biopsy proven synovial sarcoma underwent angiography. The angiograms on these patients were reviewed to determine whether synovial sarcomas and their variants demonstrated a characteristic angiographic appearance. Synovial sarcomas appeared angiographically as soft tissue masses which showed a fine network of tumor vessels with an inhomogeneous capillary blush. Their degree of vascularity varied according to their histopathology. Monophasic synovial sarcomas demonstrated in general a higher degree of neovascularity than the biphasic form. This finding was also suggested by histopathologic analysis of the vessels in the tumor. Although angiography did not show a distinctive vascular pattern it may be useful to evaluate tumor size and vascularity. (orig.)

  18. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

    Directory of Open Access Journals (Sweden)

    Mengmeng Du

    Full Text Available Genome-wide association studies (GWAS have identified many common single nucleotide polymorphisms (SNPs associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs. We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33. We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s.

  19. Glucose oxidase variants with improved properities

    OpenAIRE

    Fischer, Rainer; Ostafe, Raluca; Prodanovic, Radivoje

    2014-01-01

    Source: WO14173822A3 [EN] The technology provided herein relates to novel variants of microbial glucose oxidase with improved properties, more specifically to polypeptides having glucose oxidase activity as their major enzymatic activity; to nucleic acid molecules encoding said glucose oxidases; vectors and host cells containing the nucleic acids and methods for producing the glucose oxidase; compositions comprising said glucose oxidase; methods for the preparation and production of such enzy...

  20. Unusual variant of Cantrell′s pentalogy?

    Directory of Open Access Journals (Sweden)

    Kumar Basant

    2008-01-01

    Full Text Available A 12-hour-old male infant presented with prolapsed abdominal content through a defect on left side of chest wall with respiratory distress. A thorough clinical examination suggested absence of ectopia cordis, abdominal wall defect, and any bony anomaly. The child expired after 6 hours of admission because of respiratory distress and electrolyte imbalance. Is congenital defect of chest wall associated with diaphragmatic hernia without ectopia cordis and omphalocele, an unusual variant of Cantrell′s pentalogy?

  1. Random Plant Viral Variants Attain Temporal Advantages During Systemic Infections and in Turn Resist other Variants of the Same Virus.

    Science.gov (United States)

    Zhang, Xiao-Feng; Guo, Jiangbo; Zhang, Xiuchun; Meulia, Tea; Paul, Pierce; Madden, Laurence V; Li, Dawei; Qu, Feng

    2015-10-20

    Infection of plants with viruses containing multiple variants frequently leads to dominance by a few random variants in the systemically infected leaves (SLs), for which a plausible explanation is lacking. We show here that SL dominance by a given viral variant is adequately explained by its fortuitous lead in systemic spread, coupled with its resistance to superinfection by other variants. We analyzed the fate of a multi-variant turnip crinkle virus (TCV) population in Arabidopsis and N. benthamiana plants. Both wild-type and RNA silencing-defective plants displayed a similar pattern of random dominance by a few variant genotypes, thus discounting a prominent role for RNA silencing. When introduced to plants sequentially as two subpopulations, a twelve-hour head-start was sufficient for the first set to dominate. Finally, SLs of TCV-infected plants became highly resistant to secondary invasions of another TCV variant. We propose that random distribution of variant foci on inoculated leaves allows different variants to lead systemic movement in different plants. The leading variants then colonize large areas of SLs, and resist the superinfection of lagging variants in the same areas. In conclusion, superinfection resistance is the primary driver of random enrichment of viral variants in systemically infected plants.

  2. Spatially variant periodic structures in electromagnetics

    Science.gov (United States)

    Rumpf, Raymond C.; Pazos, Javier J.; Digaum, Jennefir L.; Kuebler, Stephen M.

    2015-01-01

    Spatial transforms are a popular technique for designing periodic structures that are macroscopically inhomogeneous. The structures are often required to be anisotropic, provide a magnetic response, and to have extreme values for the constitutive parameters in Maxwell's equations. Metamaterials and photonic crystals are capable of providing these, although sometimes only approximately. The problem still remains about how to generate the geometry of the final lattice when it is functionally graded, or spatially varied. This paper describes a simple numerical technique to spatially vary any periodic structure while minimizing deformations to the unit cells that would weaken or destroy the electromagnetic properties. New developments in this algorithm are disclosed that increase efficiency, improve the quality of the lattices and provide the ability to design aplanatic metasurfaces. The ability to spatially vary a lattice in this manner enables new design paradigms that are not possible using spatial transforms, three of which are discussed here. First, spatially variant self-collimating photonic crystals are shown to flow unguided waves around very tight bends using ordinary materials with low refractive index. Second, multi-mode waveguides in spatially variant band gap materials are shown to guide waves around bends without mixing power between the modes. Third, spatially variant anisotropic materials are shown to sculpt the near-field around electric components. This can be used to improve electromagnetic compatibility between components in close proximity. PMID:26217058

  3. Warty Carcinoma Penis: An Uncommon Variant

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    Sushma Thapa

    2017-01-01

    Full Text Available Penile carcinoma frequency varies widely in different parts of the world and comprises 1–10% of all the malignancies in males. Majority of the cases of penile carcinoma are squamous cell carcinoma of penis comprising 60% to 70% of all cases. Warty carcinoma of penis is an unusual neoplasm and a variant of penile squamous cell carcinoma comprising 5%–10% of all the variants. The other histological variants include basaloid, verrucous, papillary, sarcomatous, mixed, and adenosquamous carcinoma. The various histological entities with an exophytic papillary lesions including warty carcinoma are together referred to as the “verruciform” group of neoplasms. The warty carcinoma has to be differentiated from these lesions and is typically distinguished by histological features of hyperkeratosis, arborescent papillomatosis, acanthosis, and prominent koilocytosis with nuclear pleomorphism. We present a case of 65-year-old male with growth measuring 6×4 cm in the penis who underwent total penectomy and was diagnosed as warty carcinoma penis.

  4. Cryptanalysis of RSA and its variants

    CERN Document Server

    Hinek, M Jason

    2009-01-01

    Thirty years after RSA was first publicized, it remains an active research area. Although several good surveys exist, they are either slightly outdated or only focus on one type of attack. Offering an updated look at this field, Cryptanalysis of RSA and Its Variants presents the best known mathematical attacks on RSA and its main variants, including CRT-RSA, multi-prime RSA, and multi-power RSA. Divided into three parts, the book first introduces RSA and reviews the mathematical background needed for the majority of attacks described in the remainder of the text. It then brings together all of the most popular mathematical attacks on RSA and its variants. For each attack presented, the author includes a mathematical proof if possible or a mathematical justification for attacks that rely on assumptions. For the attacks that cannot be proven, he gives experimental evidence to illustrate their practical effectiveness. Focusing on mathematical attacks that exploit the structure of RSA and specific parameter choic...

  5. MR imaging of the ankle: Normal variants

    International Nuclear Information System (INIS)

    Noto, A.M.; Cheung, Y.; Rosenberg, Z.S.; Norman, A.; Leeds, N.E.

    1987-01-01

    Thirty asymptomatic ankles were studied with high-resolution surface coil MR imaging. The thirty ankles were reviewed for identification or normal structures. The MR appearance of the deltoid and posterior to talo-fibular ligaments, peroneous brevis and longus tendons, and posterior aspect of the tibial-talar joint demonstrated several normal variants not previously described. These should not be misinterpreted as pathologic processes. The specific findings included (1) cortical irregularity of the posterior tibial-talar joint in 27 of 30 cases which should not be mistaken for osteonecrois; (2) normal posterior talo-fibular ligament with irregular and frayed inhomogeneity, which represents a normal variant in seven of ten cases; and (3) fluid in the shared peroneal tendons sheath which may be confused for a longitudinal tendon tear in three of 30 cases. Ankle imaging with the use of MR is still a relatively new procedure. Further investigation is needed to better define normal anatomy as well as normal variants. The authors described several structures that normally present with variable MR imaging appearances. This is clinically significant in order to maintain a high sensitivity and specificity in MR imaging interpretation

  6. Gestión y minimización de los impactos socio ambientales generados fuera del derecho de vía en la etapa de construcción de carreteras caso: variante Fusagasugá - Cundinamarca

    OpenAIRE

    Patiño Silva, Omar Francisco

    2011-01-01

    La construcción de la Variante de Fusagasugá, en Cundinamarca, que hace parte del proyecto de transporte departamental denominado Doble Calzada Bogotá - Girardot, vía proyectada en una de las zonas de más desarrollo del país, la cual en su diseño atraviesa una parte del territorio del municipio de Fusagasugá con características propias de ruralidad, por fincas dedicadas a la agricultura y que sirven como sitio de descanso y veraneo en época de vacaciones estudiantiles a una parte de la pob...

  7. Estudio sociolinguistico de una variante sintactica el fenomeno "dequeismo" en el espanol canario (Sociolinguistic Study of a Syntactic Variant: The "Dequeismo" Phenomenon in Canary Islands Spanish).

    Science.gov (United States)

    Serrano, Maria Jose

    1998-01-01

    The dequeismo phenomenon is occurring more frequently in spoken Spanish in both Spain and in Latin America. Introduction of the preposition "de" before "que" in nominal complements exploits one recourse in Spanish, namely the deictic capacity of prepositional "de" as a marker or introducer of the speaker's…

  8. Annotating pathogenic non-coding variants in genic regions.

    Science.gov (United States)

    Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B

    2017-08-09

    Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Transcript-inferred Pathogenicity (TraP) score, which uses sequence context alterations to reliably identify non-coding variation that causes disease. High TraP scores single out extremely rare variants with lower minor allele frequencies than missense variants. TraP accurately distinguishes known pathogenic and benign variants in synonymous (AUC = 0.88) and intronic (AUC = 0.83) public datasets, dismissing benign variants with exceptionally high specificity. TraP analysis of 843 exomes from epilepsy family trios identifies synonymous variants in known epilepsy genes, thus pinpointing risk factors of disease from non-coding sequence data. TraP outperforms leading methods in identifying non-coding variants that are pathogenic and is therefore a valuable tool for use in gene discovery and the interpretation of personal genomes.While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-computed scores.

  9. PARA MEDIR LA FLEXIBILIDAD SE DEBEN USAR OPCIONES REALES: UNA VISIÓN GLOBAL

    Directory of Open Access Journals (Sweden)

    Oscar Daniel Mejía Carvajal

    2003-01-01

    Full Text Available Recientemente se ha sentido que los modelos tradicionales de flujo de caja discontinuo (DCF no explican completamente las opciones administrativas de la firma, así como tampoco la flexibilidad y las posibles variantes en sus operaciones. Actualmente la teoría y el desarrollo del modelo de opciones están siendo aplicados para la valoración de derechos de conversión y de suscripción de bonos y acciones, contratos de colocación de valores, seguros, deuda y patrimonio de una firma, hipotecas, deudas subordinadas, contratos de exploración petrolera, etc. Una opción provee al tenedor el derecho de comprar o vender una cantidad fijada de un activo subyacente a un precio fijado de antemano (llamado strike o precio de ejercicio, antes o en la fecha de expiración de la opción. Los árboles de decisión (teoría de juegos constituyen una alternativa para evaluar la flexibilidad asociada con las decisiones de inversión. No obstante, la metodología de opciones reales es rigurosamente más correcta; tanto las opciones reales como los árboles de decisión capturan la flexibilidad, sin embargo las opciones reales son ajustadas por el riesgo.

  10. Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

    Directory of Open Access Journals (Sweden)

    Bryony A. Thompson

    2015-03-01

    Full Text Available Inherited mutations in the DNA mismatch repair genes (MMR can cause MMR deficiency and increased susceptibility to colorectal and endometrial cancer. Microsatellite instability (MSI is the defining molecular signature of MMR deficiency. The clinical classification of identified MMR gene sequence variants has a direct impact on the management of patients and their families. For a significant proportion of cases sequence variants of uncertain clinical significance (also known as unclassified variants are identified, constituting a challenge for genetic counselling and clinical management of families. The effect on protein function of these variants is difficult to interpret. The presence or absence of MSI in tumours can aid in determining the pathogenicity of associated unclassified MMR gene variants. However, there are some considerations that need to be taken into account when using MSI for variant interpretation. The use of MSI and other tumour characteristics in MMR gene sequence variant classification will be explored in this review.

  11. Conceptos de ataque frente a variantes defensivas 6:0 y 5:1 [Concepts of attacks against the variants defensive 6:0 and 5:1

    Directory of Open Access Journals (Sweden)

    Juan de Dios Román Seco

    2009-12-01

    Full Text Available Resumen: La filosofía del juego de ataque contra diferentes Sistemas Defensivos tiene una raíz basada en los Principios Tácticos Colectivos del Ataque que se orienta y apoya a nivel práctico en los medios tácticos colectivos. Las diferentes estructuras colectivas en defensa exigen cumplir aquellos y saber elegir los medios tácticos adecuados. En síntesis, no existen "recetas" para resolver problemas sino la utilización de los medios tácticos adecuados. La estrategia tiene su fundamento y lleva al éxito siempre que se defina a partir de buenas bases tácticas. Palabras clave: Ataque, Defensa 6:0, Defensa 5.1 Abstract: The philosophy of the attack game against different Defensive Systems has a root based on the Principles Tactical Communities of the Attack that it is guided and it supports at practical level in the collective tactical means. The different collective structures in defense demand to complete those and to know how to choose the appropriate tactical means. In synthesis, recipes don't exist to solve problems but the use of the appropriate tactical means. The strategy has its foundation and it takes to the success whenever he/she is defined starting from good tactical bases. Key words: Attacks, variant defensive 6:0, variant defensive 5:1.

  12. Wolbachia, una pandemia con posibilidades

    Directory of Open Access Journals (Sweden)

    Marcela S. RODRIGUERO

    2013-01-01

    Full Text Available La infección causada por Wolbachia es la más extendida entre los animales. La capacidad de esta bacteria para manipular la reproducción de sus hospedadores la posicionan en el centro de la biología de los organismos, influyendo en procesos tan capitales como la determinación del sexo, el ciclo celular, la formación y extinción de especies y el comportamiento de artrópodos entre los que se cuentan varias plagas y vectores de enfermedades. Cualidades tales como la herencia vertical de Wolbachia, la velocidad a la que se propaga en las poblaciones que afecta, la capacidad de bloquear la actividad patogénica de diversos microorganismos o de acortar el ciclo de vida de sus hospedadores la señalan como un potencial instrumento para el control de poblaciones de insec - tos y nematodos perjudiciales. ¿Cuáles son las posibilidades que nos ofrece esta pandemia? En la presente contribución se presenta una revisión de los aspectos fundamen - tales de esta infección y sus implicancias prácticas para el manejo de insectos plaga. Esta revisión está basada en el simposio del mismo nombre acontecido en el VIII Congreso Argentino de Entomología.

  13. TERMODINAMICA DE ECOSISTEMAS UNA APROXIMACION

    Directory of Open Access Journals (Sweden)

    Gómez Palacio Germán Raúl

    1998-06-01

    Full Text Available La ecología actual no es ya una ciencia puramente descriptiva y autosuficiente. Dada la naturaleza compleja de los ecosistemas, ha sido necesario recurrir a disciplinas como la física, la química, y a herramientas matemáticas como la teoría de catástrofes, la teoría de fractales, la cibernética y la teoría de redes, para el estudio y predicción de su comportamiento. La termodinámica -en sus distintos estadios -también aporta a esa visión pluralista, tal vez la única aproximada al comportamiento real de un ecosistema. Se presentan algunas ideas sobre la importancia que pueden tener conceptos como la energía, la entropía, la exergía, la información, el no equilibrio en el análisis de los procesos que tienen lugar en ecosistemas.

  14. Una red para la gente

    Directory of Open Access Journals (Sweden)

    Raúl Trejo Delarbre

    2004-02-01

    Full Text Available La próxima Cumbre Mundial de la Sociedad de la Información ha revitalizado, en numerosos países, el debate acerca de las nuevas tecnologías de la comunicación y los usos que pueden tener. Lamentablemente en México hemos estado casi del todo ajenos a esa intensa, extensa y en otras latitudes fructífera discusión. Ni los especialistas interesados en estos temas, ni la sociedad que es a la postre beneficiaria o damnificada según sea el empleo de tales tecnologías, ni los organismos del Estado a cargo de tales asuntos, han propiciado la reflexión colectiva que nos podría permitir tanto afinar las posiciones de nuestro país rumbo a la cumbre de Ginebra y Túnez como deliberar, en ese contexto, acerca de lo mucho que nos falta para tener un país auténticamente imbricado en la construcción de una auténtica Sociedad de la Información.

  15. No queremos una sola voz

    Directory of Open Access Journals (Sweden)

    Lourdes Barrezueta

    2015-01-01

    Full Text Available Comunicación y Género, acopia trabajos que vinculan a la mujer y la comunicación y sus esfuerzos por no ser consideradas inferiores. Del libro a la pantalla, acerca a algunas reflexiones sobre el proceso que lleva del libro a la pantalla por la polémica que despierta la adaptación de las novelas, puesto que muchos señalan que la trama se ve desfigurada. Se agregan varios temas sobre el cine. En "Días de Radio", se plantea el que a pesar de la censura y los problemas económicos que deben enfrentar, las radios populares de América Latina, siguen ganando espacios, de su desarrollo depende una mayor profundización de la democracia. Tema de debate es Estrategias comunicativas en Chiapas y Haití. Se añaden dos entrevistas a un caricaturista brasileño y a un corresponsal de guerra muy prestigiado.

  16. Una Amistad y una Vocacion: Carlos Sanmartin Barberi

    Directory of Open Access Journals (Sweden)

    Carlos Sanmartin Barberi

    1998-12-01

    Full Text Available

    Discurso Pronunciado por el Dr. EGON LICHTENBERGER en su recepción como Miembro Honorario de la Academia Nacional de Medicina.

    Con motivo de haber sido distinguido para presentarme en este recinto respetable para recibir la medalla de Miembro Honorario, revisé la lista de los académicos honorarios y demás miembros de la Academia Nacional de Medicina. Que la persona, que les dirige la palabra, pase a engrosar la lista de figuras tan eminentes de la Medicina Colombiana, me causa sentimientos de temor, de humildad y de satisfacción.

    De temor porque soy consciente de lo que significa ser y de lo que se espera de un Miembro Honorario de la Academia. De humildad por figurar al lado de profesionales tan eminentes y que han hecho contribuciones tan significativas en todas la ramas de la Medicina. Y de satisfacción por haber sido elegido por unanimidad para pertenecer a esta casa, después de mas de treinta años de labor académica y de casi quince frente al Instituto Nacional de Medicina Legal y Ciencias Forenses.

    Me perdonarán ustedes, si de la lista de Académico Honorarios deseo mencionar en esta ocasión solamente el nombre del Doctor Carlos Sanmartín Barberi, cuya ausencia de esta sesión solemne es extremadamente dolorosa. Con Carlos tuvimos una larga y estrecha amistad que comenzó con los estudios en la Facultad de Medicina de la Universidad Nacional, cuyos cicuenta años de egresados como médicos, se celebró recientemente con un acto académico, en el cual, el Doctor Sanmartín deleitó a los asistentes con una disertación sobre los progresos de la Medicina durante los últimos cincuenta años, disertación profunda y amena como todas las que pronunció durante su vida académica y profesional.

    Recuerdo cuando por los años 1943-1944, nos reuníamos por la noche en su casa, ubicada en Teusaquillo y en el microscopio heredado de su padre, Doctor Roberto Sanmartín Latorre, tempranamente

  17. Una vida con una válvula: vivencias de una joven operada de corazón

    Directory of Open Access Journals (Sweden)

    María Correa Rodríguez

    2013-09-01

    Full Text Available La informante del relato es una joven que tuvo que ser sometida a una intervención quirúrgica a corazón abierto. Este relato biográfico presenta sus vivencias, sentimientos y experiencias a lo largo del proceso, abarcando desde sus estancias hospitalarias, manejo de la enfermedad y situación actual. El objetivo del relato es describir el significado las experiencias relacionadas con la enfermedad que ha desarrollado la joven en las distintas etapas de su vida. Es una historia marcada por el enorme amor que siente hacia sus padres que la han apoyado en todo momento.

  18. Una vida con una válvula: vivencias de una joven operada de corazón

    OpenAIRE

    María Correa Rodríguez; José Antonio Gutiérrez Romero; Juan Manuel Martínez Guerrero

    2013-01-01

    La informante del relato es una joven que tuvo que ser sometida a una intervención quirúrgica a corazón abierto. Este relato biográfico presenta sus vivencias, sentimientos y experiencias a lo largo del proceso, abarcando desde sus estancias hospitalarias, manejo de la enfermedad y situación actual. El objetivo del relato es describir el significado las experiencias relacionadas con la enfermedad que ha desarrollado la joven en las distintas etapas de su vida. Es una historia marcada por el e...

  19. Una trayectoria de nuestro tiempo

    Directory of Open Access Journals (Sweden)

    Roberto Schwarz

    2014-12-01

    Full Text Available La lectura crítica de la autobiografía de CaetanoVeloso, Verdade tropical, analiza la posición cultural y política de la Tropicália, movimiento en que este artista tuvo un papel decisivo con su música y sus shows. Se problematiza su distanciamiento de la izquierda tradicional y las críticas que hace de ésta: por un lado, su ilusión sobre la existencia de un ‘populismo’ y, por el otro, su complacencia con medidas dictatoriales tomadas en el nombre del pueblo. El artículo sostiene que esta actitud prepara el descompromiso social que caracteriza el post-modernismo, no obstante admite que tampoco la izquierda –hasta hoy– ha encontrado una respuesta sobre el periodo que apunte a una reevaluación de lo popular y del pueblo como sujeto políticamente viable. A leitura crítica da autobiografia de Caetano Veloso, Verdade tropical, analisa a perspectiva cultural e política da Tropicália, movimento no qual este artista teve um papel decisivo com sua música e seus shows. Problematiza-se o seu afastamento a respeito da esquerda tradicional e as críticas que faz dela: de um lado, a sua ilusão com a existência de um ‘populismo’ e, do outro, a sua complacência com medidas ditatoriais tomadas em nome do povo. O ensaio assinala que a atitude da Tropicália antecipa a desobrigação social que caracteriza o pós-modernismo, não obstante admite que a esquerda não foi capaz até hoje de propor uma nova avaliação tanto do período quanto do popular e do povo como sujeito politicamente viável. This critical approach to Caetano Veloso’s autobiographic book Verdade Tropical, analyzes the cultural and political dimensions of Tropicália, a movement in which this artist played a decisive role with his music and shows. This article questions the distance Tropicália took from traditional left-wing positions, as well as its criticism of the latter: on the one hand, Tropicália’s misleading depiction about populism and, on the other

  20. Paso superior en una ladera

    Directory of Open Access Journals (Sweden)

    Bender, O.

    1965-07-01

    Full Text Available The Redwood highway, through the Californian forest, runs on a viaduct, as it crosses a mountain slope of about 45° inclination. The firm ground is fairly deep, and as an additional constructional difficulty, it was necessary to respect the natural beauty of the countryside. A structure of portal frames were built, forming a number of short spans. These spans were bridged with metal girders, on which a 19 m wide deck was placed. The columns are hollow and have a transversal cross beam, to join each pair. There was difficulty in excavating the foundations for the columns, as it was necessary to dig through the soft top soil, and also prevent this soil from hurting the trunks of the forest trees. Another significant difficulty in the construction of this viaduct was the access to the working site, since there were no suitable platforms from which to operate the appropriate machinery. This made it necessary to do a lot of the work by manual operation. As one of the edges of the deck is very close to the mountain side, a supporting beam was erected on this side. It was made of concrete, on metal piles. The formwork for the deck structure was placed on the concrete stems of the supporting piles.La autopista denominada Redwood (California salva, con un paso superior, la ladera de un bosque cuya pendiente es del 1/1. El terreno firme se halla a bastante profundidad, añadiéndose, a los naturales problemas de la construcción, el imperativo de respetar la belleza agreste del paraje. La solución adoptada consiste en una estructura porticada, con varios tramos de pequeñas luces, salvados con vigas metálicas, sobre los que se coloca la losa del tablero, de 19 m de anchura total. Los soportes están constituidos por pórticos de dos montantes huecos (con bases de hormigón en masa por debajo del suelo, hasta el firme coronados por un cabezal. La perforación de pozos para el hormigonado de los montantes presentaba la dificultad de atravesar el terreno

  1. Genetic Variants Associated with Circulating Parathyroid Hormone.

    Science.gov (United States)

    Robinson-Cohen, Cassianne; Lutsey, Pamela L; Kleber, Marcus E; Nielson, Carrie M; Mitchell, Braxton D; Bis, Joshua C; Eny, Karen M; Portas, Laura; Eriksson, Joel; Lorentzon, Mattias; Koller, Daniel L; Milaneschi, Yuri; Teumer, Alexander; Pilz, Stefan; Nethander, Maria; Selvin, Elizabeth; Tang, Weihong; Weng, Lu-Chen; Wong, Hoi Suen; Lai, Dongbing; Peacock, Munro; Hannemann, Anke; Völker, Uwe; Homuth, Georg; Nauk, Matthias; Murgia, Federico; Pattee, Jack W; Orwoll, Eric; Zmuda, Joseph M; Riancho, Jose Antonio; Wolf, Myles; Williams, Frances; Penninx, Brenda; Econs, Michael J; Ryan, Kathleen A; Ohlsson, Claes; Paterson, Andrew D; Psaty, Bruce M; Siscovick, David S; Rotter, Jerome I; Pirastu, Mario; Streeten, Elizabeth; März, Winfried; Fox, Caroline; Coresh, Josef; Wallaschofski, Henri; Pankow, James S; de Boer, Ian H; Kestenbaum, Bryan

    2017-05-01

    Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies ( n =22,653 and n =6502 in discovery and replication analyses, respectively). We evaluated the association of single nucleotide polymorphisms (SNPs) with natural log-transformed PTH concentration adjusted for age, sex, season, study site, and principal components of ancestry. We discovered associations of SNPs from five independent regions with serum PTH concentration, including the strongest association with rs6127099 upstream of CYP24A1 ( P =4.2 × 10 -53 ), a gene that encodes the primary catabolic enzyme for 1,25-dihydroxyvitamin D and 25-dihydroxyvitamin D. Each additional copy of the minor allele at this SNP associated with 7% higher serum PTH concentration. The other SNPs associated with serum PTH concentration included rs4074995 within RGS14 ( P =6.6 × 10 -17 ), rs219779 adjacent to CLDN14 ( P =3.5 × 10 -16 ), rs4443100 near RTDR1 ( P =8.7 × 10 -9 ), and rs73186030 near CASR ( P =4.8 × 10 -8 ). Of these five SNPs, rs6127099, rs4074995, and rs219779 replicated. Thus, common genetic variants located near genes involved in vitamin D metabolism and calcium and renal phosphate transport associated with differences in circulating PTH concentrations. Future studies could identify the causal variants at these loci, and the clinical and functional relevance of these variants should be pursued. Copyright © 2017 by the American Society of Nephrology.

  2. EI pensamiento organizacional estrategico: una perspectiva diacronica

    Directory of Open Access Journals (Sweden)

    Mauricio Sanabria

    2004-12-01

    Full Text Available El artículo recorre los principales elementos que han permitido configurar el pensamiento organizacional estratégico. Este campo, inscrito en la disciplina administrativa, cuenta con destacadas contribuciones fundamentalmente durante las últimas cinco décadas. Se reconstruye su desarrollo conceptual, ubicándolo en un contexto histórico particular; más que una crítica profunda, se presenta un panorama general, resultado de una aproximación diacrónica, en la que es imposible no postular una serie de ideas, planteamientos y reflexiones específicas.

  3. HACIA UNA PEDAGOGÍA FRANCISCANA

    Directory of Open Access Journals (Sweden)

    Benjamín Soto Forero

    2008-12-01

    Full Text Available El artículo busca presentar como mediante toda una manera de actuar, de ver y de pensar, se va construyendo una propuesta pedagógica franciscana; inspirada en el Evangelio y en la manera como Francisco de Asís vivió el mismo, buscando siempre la importancia de la persona humana, la fraternidad universal, el respeto por lo diferente, viviendo la cotidianidad de una manera alegre y festiva, donde la propuesta pedagógica franciscana se va dando en el caminar con el otro desde la fraternidad y el servicio.

  4. Desarrollo social y personalidad. Una perspectiva interdisciplinar

    OpenAIRE

    Riesco González, Manuel

    2012-01-01

    En las siguientes páginas se pretende establecer un diálogo interdisciplinar y abierto sobre cuestiones relevantes acerca del desarrollo social y de la personalidad. A partir de una breve reseña histórica del tema desde una perspectiva psicológica, se trata de comprender, con una visión amplia, el progreso humano como marco general del desarrollo social y de las personas. Finalmente, se muestra un bosquejo de la sociedad actual, definida como “sociedad del conocimiento”, “sociedad abierta” y ...

  5. Complex branchial fistula: a variant arch anomaly.

    Science.gov (United States)

    De Caluwé, D; Hayes, R; McDermott, M; Corbally, M T

    2001-07-01

    A 5-year-old boy presented with an infected left-sided branchial fistula. Despite antibiotic treatment and repeated excision of the fistula, purulent discharge from the wound persisted. Three-dimensional computed tomography (3D CT) reconstruction greatly facilitated the diagnosis and management of this case by showing the course of the fistulous tract. The complexity of the tract suggests that this represents a variant arch anomaly because it contains features of first, second, third, and fourth arch remnants. Copyright 2001 by W.B. Saunders Company.

  6. Anatomy, normal variants, and basic biomechanics

    International Nuclear Information System (INIS)

    Berquist, T.H.; Johnson, K.A.

    1989-01-01

    This paper reports on the anatomy and basic functions of the foot and ankle important to physicians involved in imaging procedures, clinical medicine, and surgery. New radiographic techniques especially magnetic resonance imaging, provide more diagnostic information owing to improved tissue contrast and the ability to obtain multiple image planes (axial, sagittal, coronal, oblique). Therefore, a thorough knowledge of skeletal and soft tissue anatomy is even more essential. Normal variants must also be understood in order to distinguish normal from pathologic changes in the foot and ankle. A basic understanding of biomechanics is also essential for selecting the proper diagnostic techniques

  7. Research progress of behavioral variant frontotemporal dementia

    Directory of Open Access Journals (Sweden)

    Xiao-hua GU

    2015-07-01

    Full Text Available There is no epidemiological data of frontotemporal dementia (FTD in China. The application of updated diagnostic criteria, publishing of frontotemporal lobar degeneration (FTLD consensus in China, development of multimodal imaging and biomarkers promote the clinical understanding on behavioral variant frontotemporal dementia (bvFTD. There is still no drugs treating FTD approved by U.S. Food and Drug Administration (FDA. Multidisciplinary intervention may delay the progression of bvFTD. DOI: 10.3969/j.issn.1672-6731.2015.07.006

  8. Oral fibrolipoma: A rare histological variant

    Directory of Open Access Journals (Sweden)

    Treville Pereira

    2014-01-01

    Full Text Available Lipomas are benign soft tissue mesenchymal neoplasms. Fibrolipoma is a histological variant of lipoma that mostly affects the buccal mucosa and causes functional and cosmetic disabilities. The diagnosis and differentiation of fibrolipoma with clinically similar lesions such as fibroma and pleomorphic adenoma is very essential for a correct treatment plan and complete follow-up. This article presents a case of a 35-year-old female with a fibrolipoma on the lingual marginal gingiva of the mandibular left third molar.

  9. Performance comparison of various time variant filters

    Energy Technology Data Exchange (ETDEWEB)

    Kuwata, M [JEOL Engineering Co. Ltd., Akishima, Tokyo (Japan); Husimi, K

    1996-07-01

    This paper describes the advantage of the trapezoidal filter used in semiconductor detector system comparing with the other time variant filters. The trapezoidal filter is the compose of a rectangular pre-filter and a gated integrator. We indicate that the best performance is obtained by the differential-integral summing type rectangular pre-filter. This filter is not only superior in performance, but also has the useful feature that the rising edge of the output waveform is linear. We introduce an example of this feature used in a high-energy experiment. (author)

  10. Plan de viabilidad de una casa rural

    OpenAIRE

    Nieto González, Óscar

    2011-01-01

    Este proyecto consiste en la puesta en marcha de una casa rural en la localidad de Argés, próxima a la ciudad de Toledo, se llamará “La Casona de Argés”, la casa tendrá 4 habitaciones dobles y una suite, todas ellas con cuarto de baño y además de las estancias habituales como cocina y salón dispondrá de un semisótano destinado a zona de juegos, una piscina, y una amplia parcela acondicionada para juegos y disfrute de los huéspedes. El negocio va estar enfocado a un público que viaje con niños...

  11. Educando una nueva ética global

    Directory of Open Access Journals (Sweden)

    Juliana Ferrer

    2003-09-01

    Full Text Available Desde el trasfondo global, se han configurado espacios de poder diferenciados, que motivan a la educación de un mínimo de ética global, por la aspiración de una sociedad mas justa y humana. El presente artículo analiza las implícaciones en la formación ética global, bajo el enfoque de contribuir al reforzamiento de la interdependencia de valores éticos universales. Se realiza una contrastación teórica de las corrientes epistemológicas, desde la perspectiva postmodema. Se concluye sobre la necesidad de educar para una ética global, expandiendo sinergias entre dinamismo productivo, bien social e institucionalidad democrática, por la búsqueda de una convivencia social de futuro.

  12. Flavonoids as Inhibitors of Human Butyrylcholinesterase Variants

    Directory of Open Access Journals (Sweden)

    Maja Katalinić

    2014-01-01

    Full Text Available The inhibition of butyrylcholinesterase (BChE, EC 3.1.1.8 appears to be of interest in treating diseases with symptoms of reduced neurotransmitter levels, such as Alzheimer’s disease. However, BCHE gene polymorphism should not be neglected in research since it could have an effect on the expected outcome. Several well-known cholinergic drugs (e.g. galantamine, huperzine and rivastigmine originating from plants, or synthesised as derivatives of plant compounds, have shown that herbs could serve as a source of novel target-directed compounds. We focused our research on flavonoids, biologically active polyphenolic compounds found in many plants and plant-derived products, as BChE inhibitors. All of the tested flavonoids: galangin, quercetin, fisetin and luteolin reversibly inhibited usual, atypical, and fluoride-resistant variants of human BChE. The inhibition potency increased in the following order, identically for all three BChE variants: luteolin

  13. Notas sobre una escuela circular prefabricada

    Directory of Open Access Journals (Sweden)

    Neutra, Richard J.

    1961-09-01

    Full Text Available En 1930, la idea de una planta circular para escuela, abarcando un espacio exterior frente a un edificio de usos varios, era ya antigua por lo menos en diez años. El Museo de Arte Moderno de Nueva York, que por aquellos tiempos instaló y preparó en sus nuevas dependencias la primera exposición masiva de Arquitectura moderna, dispuso una magnífica maqueta de este proyecto de Richard J. Neutra.

  14. Previous Experience a Model of Practice UNAE

    OpenAIRE

    Ormary Barberi Ruiz; María Dolores Pesántez Palacios

    2017-01-01

    The statements presented in this article represents a preliminary version of the proposed model of pre-professional practices (PPP) of the National University of Education (UNAE) of Ecuador, an urgent institutional necessity is revealed in the descriptive analyzes conducted from technical support - administrative (reports, interviews, testimonials), pedagogical foundations of UNAE (curricular directionality, transverse axes in practice, career plan, approach and diagnostic examination as subj...

  15. Dataset of mitochondrial genome variants in oncocytic tumors

    Directory of Open Access Journals (Sweden)

    Lihua Lyu

    2018-04-01

    Full Text Available This dataset presents the mitochondrial genome variants associated with oncocytic tumors. These data were obtained by Sanger sequencing of the whole mitochondrial genomes of oncocytic tumors and the adjacent normal tissues from 32 patients. The mtDNA variants are identified after compared with the revised Cambridge sequence, excluding those defining haplogroups of our patients. The pathogenic prediction for the novel missense variants found in this study was performed with the Mitimpact 2 program.

  16. El budismo como una espiritualidad no religiosa

    Directory of Open Access Journals (Sweden)

    Marta Granés Bayona

    2014-09-01

    Full Text Available El budismo plantea acceder a una visión de la realidad desligada de creencias y supuestos de todo tipo. Para conseguirlo plantea una indagación libre en referencia al enclaustramiento de nuestro pensar y sentir al que nos somete el ego. El ego con sus necesidades y deseos genera un acceso a la realidad relativo a nosotros. Lo que se propone es una liberación de esta lectura para que la realidad pueda aparecer frente a nosotros de manera independiente de las imposiciones del ego, es decir, un acceso a ella ab-soluto (suelto de nosotros. El budismo es, pues, una propuesta de ‘espiritualidad no religiosa’, para la que el mismo término espiritualidad  resultaría inadecuado porque en él subyace la creencia en el ‘espíritu’. Vemos que por todo ello el mensaje budista resulta muy apropiado para las sociedades hoy presentes, bien para aquellas que están transitando de una sociedad agrícola a una industrial, que conlleva a debilitar las convicciones religiosas hasta disolverlas; bien para aquellas que están próximas o han entrado ya en las sociedades llamadas de conocimiento, innovación y cambio continuo cuya condición de movilidad impide  las creencias, porque son fijadoras, lo que arrastra como consecuencia la imposibilidad de tener religión ni espiritualidad. 

  17. Una matriz de contabilidad social para Asturias

    Directory of Open Access Journals (Sweden)

    Margarita Argüelles

    2003-01-01

    Full Text Available Una Matriz de Contabilidad Social es un sistema integrado de cuentas que presenta en un cuadro de doble entrada todas las transacciones que tienen lugar en una economía entre sectores productivos, factores de producción, sectores institucionales y resto del mundo. En comparación con una Tabla Input-Output, ofrece una mayor cantidad de información y presenta de forma plena el proceso circular de la renta, captando con mayor precisión los efectos de cambios exógenos. Una de las principales utilidades de una Matriz de Contabilidad Social es servir como base de datos para el desarrollo y aplicación de un modelo de equilibrio general computable. Este es, precisamente, el objetivo último que se persigue con la elaboración de la Matriz de Contabilidad Social de la economía asturiana que aquí se presenta. Esta Matriz ha sido construida con datos procedentes de las Cuentas Regionales de Asturias correspondientes al año 1995 y su estructura se ha adaptado a su futura utilización como base de datos para el modelo que se pretende aplicar en esta economía regional.

  18. Mito: memoria y legado de una sensibilidad

    Directory of Open Access Journals (Sweden)

    Rafael Humberto Moreno Durán

    1989-01-01

    Full Text Available Evocar con entusiasmo los logros de una revista cultural es una forma de hacer autobiografía. Una forma descaradamente amable de entronizar el propio gusto y de afiliarse a una tradición con pedigree. La revista, por esta vía, deja de ser lo que sociológicamente significa -o debe significar- en el contexto cultural de una época y un país y accede a un rango nuevo y singular: a su valor perse cabe añadir otro aporte: lo que cuenta en la vida espiritual y artística del lector qué la evoca y al cual ha cautivado. La revista adquiere entonces implicaciones antropológicas, en todo superiores a las meramente didácticas y formativas. Si es cierto eso de que el estilo es el hombre, hay estilos que sólo canalizan y concilian sus intereses a través de un tipo particular de revista, lo que de alguna forma constata la existencia de destinos unidos a la suerte de una publicación , y ese es el caso de Jorge Gaitán Durán y de un grupo de escritores , comúnmente designados en el panorama de las letras continentales bajo el nombre de Generación del Cincuenta.

  19. DINÁMICA CEREBRAL Y ORIENTACIÓN SEXUAL SE NACE, O SE HACE, HOMOSEXUAL: UNA CUESTIÓN MAL PLANTEADA

    OpenAIRE

    Natalia López Moratalla

    2012-01-01

    La presente revisión ofrece los avances recientes de las ciencias neurobiológicas sobre la dinámica cerebral, que han permitido establecer diferencias estructurales y funcionales entre el cerebro de sexual de hombres y mujeres con orientación heterosexual o homosexual. Los datos muestran que no existe una determinación genética. En la homosexualidad de los varones existe una predisposición innata, asociada principalmente a las variantes genéticas del receptor de andrógenos localizadas en e...

  20. Differential Expression Profile of ZFX Variants Discriminates Breast Cancer Subtypes

    Science.gov (United States)

    Pourkeramati, Fatemeh; Asadi, Malek Hossein; Shakeri, Shahryar; Farsinejad, Alireza

    2018-05-13

    ZFX is a transcriptional regulator in embryonic stem cells that plays an important role in pluripotency and self-renewal. ZFX is widely expressed in pluripotent stem cells and is down-regulated during differentiation of embryonic stem cells. ZFX has five different variants that encode three different protein isoforms. While several reports have determined the overexpression of ZFX in a variety of somatic cancers, the expression of ZFX-spliced variants in cancer cells is not well-understood. We investigated the expression of ZFX variants in a series of breast cancer tissues and cell lines using quantitative PCR. The expression of ZFX variant 1/3 was higher in tumor tissue compared to marginal tissue. In contrast, the ZFX variant 5 was down-regulated in tumor tissues. While the ZFX variant 1/3 and ZFX variant 5 expression significantly increased in low-grade tumors, ZFX variant 4 was strongly expressed in high-grade tumors and demonstrating lymphatic invasion. In addition, our result revealed a significant association between the HER2 status and the expression of ZFX-spliced variants. Our data suggest that the expression of ZFX-spliced transcripts varies between different types of breast cancer and may contribute to their tumorigenesis process. Hence, ZFX-spliced transcripts could be considered as novel tumor markers with a probable value in diagnosis, prognosis, and therapy of breast cancer.

  1. Population structure analysis using rare and common functional variants

    Directory of Open Access Journals (Sweden)

    Ding Lili

    2011-11-01

    Full Text Available Abstract Next-generation sequencing technologies now make it possible to genotype and measure hundreds of thousands of rare genetic variations in individuals across the genome. Characterization of high-density genetic variation facilitates control of population genetic structure on a finer scale before large-scale genotyping in disease genetics studies. Population structure is a well-known, prevalent, and important factor in common variant genetic studies, but its relevance in rare variants is unclear. We perform an extensive population structure analysis using common and rare functional variants from the Genetic Analysis Workshop 17 mini-exome sequence. The analysis based on common functional variants required 388 principal components to account for 90% of the variation in population structure. However, an analysis based on rare variants required 532 significant principal components to account for similar levels of variation. Using rare variants, we detected fine-scale substructure beyond the population structure identified using common functional variants. Our results show that the level of population structure embedded in rare variant data is different from the level embedded in common variant data and that correcting for population structure is only as good as the level one wishes to correct.

  2. Human papillomavirus variants among Inuit women in northern Quebec, Canada.

    Science.gov (United States)

    Gauthier, Barbara; Coutlée, Francois; Franco, Eduardo L; Brassard, Paul

    2015-01-01

    Inuit communities in northern Quebec have high rates of human papillomavirus (HPV) infection, cervical cancer and cervical cancer-related mortality as compared to the Canadian population. HPV types can be further classified as intratypic variants based on the extent of homology in their nucleotide sequences. There is limited information on the distribution of intratypic variants in circumpolar areas. Our goal was to describe the HPV intratypic variants and associated baseline characteristics. We collected cervical cell samples in 2002-2006 from 676 Inuit women between the ages of 15 and 69 years in Nunavik. DNA isolates from high-risk HPVs were sequenced to determine the intratypic variant. There were 149 women that were positive for HPVs 16, 18, 31, 33, 35, 45, 52, 56 or 58 during follow-up. There were 5 different HPV16 variants, all of European lineage, among the 57 women positive for this type. There were 8 different variants of HPV18 present and all were of European lineage (n=21). The majority of samples of HPV31 (n=52) were of lineage B. The number of isolates and diversity of the other HPV types was low. Age was the only covariate associated with HPV16 variant category. These frequencies are similar to what was seen in another circumpolar region of Canada, although there appears to be less diversity as only European variants were detected. This study shows that most variants were clustered in one lineage for each HPV type.

  3. Determination of uranium by luminescent method (tablet variant)

    International Nuclear Information System (INIS)

    Sergeev, A.N.; Yufa, B.Ya.

    1985-01-01

    A new tablet variant of luminescent determination of uranium in rocks is developed. The analytical process includes the following operations: sample decomposition, uranium separation from luminescence quencher impurities, preparation of luminescent sample (tablet), photometry of the tablet. The method has two variants developed: the first one is characterized by a more hard decomposition, sample mass being 0.2 g; the second variant has a better detection limit (5x10 -6 %), the sample mass being 0.2-1 g. Procedures of the sample preparation for both variants of analysis are described

  4. Superior and inferior vena cavae: Embryology, variants, and pathology

    International Nuclear Information System (INIS)

    Mendelson, D.S.; Mitty, H.; Janus, C.; Gendal, E.; Berson, B.

    1987-01-01

    The superior and inferior venae cavae may be involved in a host of disease processes. Knowledge of the normal anatomy and variants of these structures is valuable in interpreting plain films and the results of angiographic procedures and all cross-sectional modalities. The authors review the embryology of venae cavae and proceed to describe their normal anatomy and variants. An awareness of the variants can prevent mistaking variants for pathologic processes. Finally, the authors describe pathology involving these vessels and demonstrate the radiographic manifestations

  5. A rabies virus vampire bat variant shows increased neuroinvasiveness in mice when compared to a carnivore variant.

    Science.gov (United States)

    Mesquita, Leonardo Pereira; Gamon, Thais Helena Martins; Cuevas, Silvia Elena Campusano; Asano, Karen Miyuki; Fahl, Willian de Oliveira; Iamamoto, Keila; Scheffer, Karin Correa; Achkar, Samira Maria; Zanatto, Dennis Albert; Mori, Cláudia Madalena Cabrera; Maiorka, Paulo César; Mori, Enio

    2017-12-01

    Rabies is one of the most important zoonotic diseases and is caused by several rabies virus (RABV) variants. These variants can exhibit differences in neurovirulence, and few studies have attempted to evaluate the neuroinvasiveness of variants derived from vampire bats and wild carnivores. The aim of this study was to evaluate the neuropathogenesis of infection with two Brazilian RABV street variants (variant 3 and crab-eating fox) in mice. BALB/c mice were inoculated with RABV through the footpad, with the 50% mouse lethal dose (LD 50 ) determined by intracranial inoculation. The morbidity of rabies in mice infected with variant 3 and the crab-eating fox strain was 100% and 50%, respectively, with an incubation period of 7 and 6 days post-inoculation (dpi), respectively. The clinical disease in mice was similar with both strains, and it was characterized initially by weight loss, ruffled fur, hunched posture, and hind limb paralysis progressing to quadriplegia and recumbency at 9 to 12 dpi. Histological lesions within the central nervous system (CNS) characterized by nonsuppurative encephalomyelitis with neuronal degeneration and necrosis were observed in mice infected with variant 3 and those infected with the crab-eating fox variant. However, lesions and the presence of RABV antigen, were more widespread within the CNS of variant-3-infected mice, whereas in crab-eating fox-variant-infected mice, RABV antigens were more restricted to caudal areas of the CNS, such as the spinal cord and brainstem. In conclusion, the results shown here demonstrate that the RABV vampire bat strain (variant 3) has a higher potential for neuroinvasiveness than the carnivore variant.

  6. Genes y variantes polimórficas asociadas a la enfermedad cardiovascular

    Directory of Open Access Journals (Sweden)

    Eliana C. Portilla

    2014-09-01

    Full Text Available La aterosclerosis se considera como la principal causante de enfermedades cardiovasculares. Es una enfermedad multifactorial, caracterizada por procesos inflamatorios y la internalización continua de moléculas lipídicas al interior del vaso. Los estudios de genes candidato han proporcionado conocimiento acerca de la fisiopatología de esta enfermedad y han permitido la postulación de algunos polimorfismos como responsables de la susceptibilidad genética en diversas poblaciones. En particular, estos polimorfismos que modulan ciertas vías moleculares tales como el estrés oxidativo, el metabolismo lipídico y la trombogénesis se asocian con el desarrollo de las enfermedades cardiovasculares. Se han conducido varios estudios para identificar nuevas variantes asociadas con la enfermedad que han permitido el descubrimiento de nuevas vías de la enfermedad. Aunque el hallazgo de nuevos genes asociados a la enfermedad cardiovascular a través de enfoques como el escaneo global del genoma ha contribuido al entendimiento del desarrollo de esta condición, el conocimiento aún es limitado y poco concluyente. El objetivo de esta revisión es identificar los genes y las variantes polimórficas asociadas a la enfermedad cardiovascular, de acuerdo con los diferentes enfoques de análisis de asociación genética.

  7. Variant facial artery in the submandibular region.

    Science.gov (United States)

    Vadgaonkar, Rajanigandha; Rai, Rajalakshmi; Prabhu, Latha V; Bv, Murlimanju; Samapriya, Neha

    2012-07-01

    Facial artery has been considered to be the most important vascular pedicle in facial rejuvenation procedures and submandibular gland (SMG) resection. It usually arises from the external carotid artery and passes from the carotid to digastric triangle, deep to the posterior belly of digastric muscle, and lodges in a groove at the posterior end of the SMG. It then passes between SMG and the mandible to reach the face after winding around the base of the mandible. During a routine dissection, in a 62-year-old female cadaver, in Kasturba Medical College Mangalore, an unusual pattern in the cervical course of facial artery was revealed. The right facial artery was found to pierce the whole substance of the SMG before winding around the lower border of the mandible to enter the facial region. Awareness of existence of such a variant and its comparison to the normal anatomy will be useful to oral and maxillofacial surgeons.

  8. Fast Ordered Sampling of DNA Sequence Variants

    Directory of Open Access Journals (Sweden)

    Anthony J. Greenberg

    2018-05-01

    Full Text Available Explosive growth in the amount of genomic data is matched by increasing power of consumer-grade computers. Even applications that require powerful servers can be quickly tested on desktop or laptop machines if we can generate representative samples from large data sets. I describe a fast and memory-efficient implementation of an on-line sampling method developed for tape drives 30 years ago. Focusing on genotype files, I test the performance of this technique on modern solid-state and spinning hard drives, and show that it performs well compared to a simple sampling scheme. I illustrate its utility by developing a method to quickly estimate genome-wide patterns of linkage disequilibrium (LD decay with distance. I provide open-source software that samples loci from several variant format files, a separate program that performs LD decay estimates, and a C++ library that lets developers incorporate these methods into their own projects.

  9. Fast Ordered Sampling of DNA Sequence Variants.

    Science.gov (United States)

    Greenberg, Anthony J

    2018-05-04

    Explosive growth in the amount of genomic data is matched by increasing power of consumer-grade computers. Even applications that require powerful servers can be quickly tested on desktop or laptop machines if we can generate representative samples from large data sets. I describe a fast and memory-efficient implementation of an on-line sampling method developed for tape drives 30 years ago. Focusing on genotype files, I test the performance of this technique on modern solid-state and spinning hard drives, and show that it performs well compared to a simple sampling scheme. I illustrate its utility by developing a method to quickly estimate genome-wide patterns of linkage disequilibrium (LD) decay with distance. I provide open-source software that samples loci from several variant format files, a separate program that performs LD decay estimates, and a C++ library that lets developers incorporate these methods into their own projects. Copyright © 2018 Greenberg.

  10. Genetic variants in periodontal health and disease

    Energy Technology Data Exchange (ETDEWEB)

    Dumitrescu, Alexandrina L [Tromsoe Univ. (Norway). Inst. of Clinical Dentistry; Kobayashi, Junya [Kyoto Univ. (Japan). Dept. of Genome Repair Dynamics

    2010-07-01

    Periodontitis is a complex, multifactorial disease and its susceptibility is genetically determined. The present book systematically reviews the evidence of the association between the genetic variants and periodontitis progression and/or treatment outcomes. Genetic syndromes known to be associated with periodontal disease, the candidate gene polymorphisms investigated in relation to periodontitis, the heritability of chronic and aggressive periodontitis, as well as common guidelines for association studies are described. This growing understanding of the role of genetic variation in inflammation and periodontal chronic disease presents opportunities to identify healthy persons who are at increased risk of disease and to potentially modify the trajectory of disease to prolong healthy aging. The book represents a new concept in periodontology with its pronounced focus on understanding through knowledge rather than presenting the presently valid answers. Connections between genetics and periodontology are systematically reviewed and covered in detail. (orig.)

  11. Nuclear variants of bone morphogenetic proteins

    Directory of Open Access Journals (Sweden)

    Meinhart Christopher A

    2010-03-01

    Full Text Available Abstract Background Bone morphogenetic proteins (BMPs contribute to many different aspects of development including mesoderm formation, heart development, neurogenesis, skeletal development, and axis formation. They have previously been recognized only as secreted growth factors, but the present study detected Bmp2, Bmp4, and Gdf5/CDMP1 in the nuclei of cultured cells using immunocytochemistry and immunoblotting of nuclear extracts. Results In all three proteins, a bipartite nuclear localization signal (NLS was found to overlap the site at which the proproteins are cleaved to release the mature growth factors from the propeptides. Mutational analyses indicated that the nuclear variants of these three proteins are produced by initiating translation from downstream alternative start codons. The resulting proteins lack N-terminal signal peptides and are therefore translated in the cytoplasm rather than the endoplasmic reticulum, thus avoiding proteolytic processing in the secretory pathway. Instead, the uncleaved proteins (designated nBmp2, nBmp4, and nGdf5 containing the intact NLSs are translocated to the nucleus. Immunostaining of endogenous nBmp2 in cultured cells demonstrated that the amount of nBmp2 as well as its nuclear/cytoplasmic distribution differs between cells that are in M-phase versus other phases of the cell cycle. Conclusions The observation that nBmp2 localization varies throughout the cell cycle, as well as the conservation of a nuclear localization mechanism among three different BMP family members, suggests that these novel nuclear variants of BMP family proteins play an important functional role in the cell.

  12. UNA ESCUELA RURAL EN TRANSFORMACIÓN: DE UNA CIUDADANÍA LOCAL A UNA CIUDADANÍA GLOBAL

    Directory of Open Access Journals (Sweden)

    Laura Rayón Rumayor

    2012-01-01

    Full Text Available A continuación presentamos parte de los resultados obtenidos en una investigación colaborativa,desarrollada en una escuela de una localidad rural de la provincia de Guadalajara. El estudio se ha centrado en comprender cómo viven y experimentan la convivencia escolar profesoradoyalumnado, y cuáles son las creencias de las familias sobre ésta. Mediante un diseño de investigación que se gesta en sus inicios con una acción de transformación y mejora, se va construyendo un relato de la vida escolar que tiene en cuenta al alumnado como sujeto escolary sujeto social.Tras una breve presentación de cuándo y cómo se gesta el estudio, exponemos los referentes teóricos y algunos rasgos importantes en relación con el contexto en el que está inserta la escuelaPosteriormente, abordamos el proceso metodológico seguido, resaltando los aspectos críticos quedan muestras de la fecundidad y el enriquecimiento que la investigación colaborativa tiene para la construcción de un conocimiento intersubjetivo y contrastado de la convivencia en la escuela. A continuación presentamos los resultados obtenidos y los sometemos a discusión, valorando surelevancia en relación con las ideas y planteamientos de otros autores. Terminamos con unas conclusiones en las que señalamos las ideas más relevantes extraídas del estudio.

  13. Orígenes y desarrollo del constructivismo: Una mirada integral

    Directory of Open Access Journals (Sweden)

    Vicente Vargas Cera

    2017-02-01

    Full Text Available Este articulo tiene como propósito sistematizar las diferentes acepciones y enfoques teóricos que han tenido que ver con los orígenes y desarrollo del constructivismo; todo esto a partir de un recorri-do sobre el extenso campo conceptual del construc-tivismo. Se busca dar una mirada crítica sobre las principales vertientes y enfoques que han estudiado el Constructivismo. El término “constructivismo” ha adquirido una amplia variedad de significados en la educación y psicología contemporánea, e inclusive podría decirse que ha alcanzado por eso una vague-dad tan grande que resulta difícil hablar de ello. Por lo tanto, defino mi postura y enmarco al constructi-vismo en un sentido histórico amplio a partir de las principales variantes epistemológicas, educativas y psicológicas que lo han estudiado.

  14. Obtención de Variantes Hiperactivas e Inactivas de la Endocelulasa Cel9 de Myxobacter Sp. Al-1 Obtención de Variantes Hiperactivas e Inactivas de la Endocelulasa Cel9 de Myxobacter Sp. Al-1

    Directory of Open Access Journals (Sweden)

    Mario Pedraza-Reyes

    2012-02-01

    Full Text Available Debido a su aplicación industrial, existe un gran interés en la producción de celulasas con propiedades bioquímicas novedosas. Por ello, en el presente trabajo se utilizó una estrategia basada en un método de mutagénesis aleatoria in vivo para la obtención de variantes de la endocelulasa Cel9 del microorganismo gram-negativo Myxobacter Sp. AL-1. Siguiendo este enfoque, se obtuvieron cepas transformantes de Escherichia coli capaces de secretar variantes de la proteína Cel9 cuyas actividades específicas fueron incrementadas hasta 7.5 veces con respecto a la actividad mostrada por la enzima nativa. Del mismo modo, se generaron cepas de E. coli productoras de variantes de la proteína Cel9 con baja o nula actividad enzimática. Experimentos de subclonación y fraccionamiento celular revelaron que las mutaciones asociadas con los fenotipos de las variantes de la enzima Cel9 ocurrieron en la secuencia del gen cel9. Así mismo, se demostró que los fenotipos de las cepas mutantes carentes de actividad enzimática no dependen de su incapacidad para secretar las proteínas mutantes. Además de su potencial aplicación biotecnológica, los resultados obtenidos en este trabajo permiten avanzar en el entendimiento de la relación estructura-función de la celulasa Cel9 de Myxobacter Sp. AL-1.Due to its biotechnological impact, there is currently a growing interest in the production of cellulases with novel biochemical properties. Here, multiple generations of random mutagenesis in vivo and screening were employed to generate variants of the modular cellulase Cel9 from Myxobacter Sp. AL-1. Following this approach, Cel9 variants which showed increases upto 7.5 fold of cellulase activity were obtained. In addition, Cel9 mutants which completely lost the ability to degrade cellulose were also obtained. Results revealed that mutations associated with the phenotype of the Cel9 variants occurred on the mutant gene sequence and that themutants with null

  15. de una relación fallida?

    Directory of Open Access Journals (Sweden)

    César Mureddu Torres

    2008-01-01

    Full Text Available Los autores presentan los resultados de una investigación de campo realizada en dos instituciones pertenecientes al Sistema de Educación Superior en México, una pública y otra privada. Destacan en ella los tópicos referentes a la actitud política de los estudiantes y relevan la semejanza de ambos grupos, cuya tendencia es, fundamentalmente, hacia la incertidumbre. La conclusión del análisis de los datos los lleva a declarar que no hay suficiente evidencia empírica por la cual pueda asignarse una correlación significativa entre el tipo de institución y la actitud predominante entre los alumnos. Concluyen que en casos como el mexicano, frente a una situación política cambiante, la repuesta de los alumnos depende más de circunstancias que afectan a toda la estructura social y no necesariamente a una parte de ellas, como la acción de la universidad, por muy importante que ésta sea.

  16. ¿Madre hay una sola?

    Directory of Open Access Journals (Sweden)

    Bravi, Claudio

    2005-01-01

    Full Text Available Un patrón de herencia uniparental libre de recombinación unido a una alta tasa de evolución molecular han hecho del ADNmt una herramienta de alta resolución en el estudio del origen y evolución de las poblaciones humanas. La existencia de una robusta filogenia global, basada en >2.000 genomas mitocondriales completos, y de más de 30.000 secuencias de la Región Hipervariable I (RHV-I publicadas a la fecha permiten evaluar los patrones de distribución étnico/geográfica y las afinidades extra-continentales de los linajes maternos presentes en América. El análisis de ∼4.000 RHV-I publicadas para Nativos Americanos permite describir: a una distribución recíprocamente excluyente para varios grupos monofiléticos de linajes maternos; b un origen "híbrido" para las poblaciones peri-árticas; c una notable pérdida de diversidad respecto de Asia: en todo el continente americano, desde Alaska a la Patagonia, coexisten hoy menor cantidad de haplogrupos y sub-haplogrupos mitocondriales que en cualquier población indígena siberiana.

  17. Mujeres sufridoras: Una realidad en el tiempo

    Directory of Open Access Journals (Sweden)

    Paloma Calero Martín de Villodres

    Full Text Available A través de las vivencias de una persona podemos comprender y conocer mejor sus experiencias. El nombre de nuestra informante es Ana, una mujer de 84 años, ella va a compartir con nosotros una vida llena de desgracias, sufrimientos, soledad y desconsuelo que provocaría un cuadro clínico de hipertensión arterial y azúcar elevada que desencadenarían en crisis asmáticas futuras, insuficiencia cardiaca, una embolia e innumerables caídas fortuitas. Es una mujer luchadora, que ha sido educada para servir sin protestar, con un gran sentido de la responsabilidad familiar, sometida al machismo de la época. Cansada de callar, nos relata cómo ha sido su vida desde su niñez, su matrimonio, sus hijos, la enfermedad de Alzheimer de su marido, la desaparición de su sintomatología y el largo camino de obstáculos que ha tenido que superar hasta llegar a nuestros días.

  18. Re-Ranking Sequencing Variants in the Post-GWAS Era for Accurate Causal Variant Identification

    Science.gov (United States)

    Faye, Laura L.; Machiela, Mitchell J.; Kraft, Peter; Bull, Shelley B.; Sun, Lei

    2013-01-01

    Next generation sequencing has dramatically increased our ability to localize disease-causing variants by providing base-pair level information at costs increasingly feasible for the large sample sizes required to detect complex-trait associations. Yet, identification of causal variants within an established region of association remains a challenge. Counter-intuitively, certain factors that increase power to detect an associated region can decrease power to localize the causal variant. First, combining GWAS with imputation or low coverage sequencing to achieve the large sample sizes required for high power can have the unintended effect of producing differential genotyping error among SNPs. This tends to bias the relative evidence for association toward better genotyped SNPs. Second, re-use of GWAS data for fine-mapping exploits previous findings to ensure genome-wide significance in GWAS-associated regions. However, using GWAS findings to inform fine-mapping analysis can bias evidence away from the causal SNP toward the tag SNP and SNPs in high LD with the tag. Together these factors can reduce power to localize the causal SNP by more than half. Other strategies commonly employed to increase power to detect association, namely increasing sample size and using higher density genotyping arrays, can, in certain common scenarios, actually exacerbate these effects and further decrease power to localize causal variants. We develop a re-ranking procedure that accounts for these adverse effects and substantially improves the accuracy of causal SNP identification, often doubling the probability that the causal SNP is top-ranked. Application to the NCI BPC3 aggressive prostate cancer GWAS with imputation meta-analysis identified a new top SNP at 2 of 3 associated loci and several additional possible causal SNPs at these loci that may have otherwise been overlooked. This method is simple to implement using R scripts provided on the author's website. PMID:23950724

  19. Genomewide association study identifies no major founder variant in ...

    Indian Academy of Sciences (India)

    2013-12-10

    Dec 10, 2013 ... variant in Caucasian moyamoya disease ... 1Department of Health and Environmental Sciences, Kyoto University Graduate ... a low prevalence in European countries (Goto and Yonekawa. 1992; Kuroda and Houkin 2008). We have found that the p.R4810K variant in the ring finger protein 213 (RNF213).

  20. Managing Process Variants in the Process Life Cycle

    NARCIS (Netherlands)

    Hallerbach, A.; Bauer, Th.; Reichert, M.U.

    2007-01-01

    When designing process-aware information systems, often variants of the same process have to be specified. Each variant then constitutes an adjustment of a particular process to specific requirements building the process context. Current Business Process Management (BPM) tools do not adequately

  1. Germline Variants of Prostate Cancer in Japanese Families.

    Directory of Open Access Journals (Sweden)

    Takahide Hayano

    Full Text Available Prostate cancer (PC is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family. We also found shared variants of BRCA2, HOXB13, and TRRAP from 59 additional small PC families (two patients per family. We identified two deleterious HOXB13 variants (F127C and G132E. Further exploration of the shared variants in rest of the families revealed deleterious variants of the so-called cancer genes (ATP1A1, BRIP1, FANCA, FGFR3, FLT3, HOXD11, MUTYH, PDGFRA, SMARCA4, and TCF3. The germline variant profile provides a new insight to clarify the genetic etiology and heterogeneity of PC among Japanese men.

  2. Holographic representation of space-variant systems: system theory.

    Science.gov (United States)

    Marks Ii, R J; Krile, T F

    1976-09-01

    System theory for holographic representation of linear space-variant systems is derived. The utility of the resulting piecewise isoplanatic approximation (PIA) is illustrated by example application to the invariant system, ideal magnifier, and Fourier transformer. A method previously employed to holographically represent a space-variant system, the discrete approximation, is shown to be a special case of the PIA.

  3. Detecting rare variants in case-parents association studies.

    Directory of Open Access Journals (Sweden)

    Kuang-Fu Cheng

    Full Text Available Despite the success of genome-wide association studies (GWASs in detecting common variants (minor allele frequency ≥0.05 many suggested that rare variants also contribute to the genetic architecture of diseases. Recently, researchers demonstrated that rare variants can show a strong stratification which may not be corrected by using existing methods. In this paper, we focus on a case-parents study and consider methods for testing group-wise association between multiple rare (and common variants in a gene region and a disease. All tests depend on the numbers of transmitted mutant alleles from parents to their diseased children across variants and hence they are robust to the effect of population stratification. We use extensive simulation studies to compare the performance of four competing tests: the largest single-variant transmission disequilibrium test (TDT, multivariable test, combined TDT, and a likelihood ratio test based on a random-effects model. We find that the likelihood ratio test is most powerful in a wide range of settings and there is no negative impact to its power performance when common variants are also included in the analysis. If deleterious and protective variants are simultaneously analyzed, the likelihood ratio test was generally insensitive to the effect directionality, unless the effects are extremely inconsistent in one direction.

  4. Androgen Receptor Splice Variants and Resistance to Taxane Chemotherapy

    Science.gov (United States)

    2017-10-01

    resistant prostate cancer ; docetaxel; cabazitaxel; chemotherapy; androgen receptor splice variants; microtubule; ligand-binding domain; microtubule... receptor splice variants (AR-Vs) are associated with resistance to taxane chemotherapy in castration- resistant prostate cancer (CRPC). However, this...androgen receptor inhibitors in prostate cancer . Nat Rev Cancer . 2015;15:701–11.

  5. Hepatitis E Virus Variant in Farmed Mink, Denmark

    DEFF Research Database (Denmark)

    Krog, Jesper Schak; Breum, Solvej Østergaard; Jensen, Trine Hammer

    2013-01-01

    Hepatitis E virus (HEV) is a zoonotic virus for which pigs are the primary animal reservoir. To investigate whether HEV occurs in mink in Denmark, we screened feces and tissues from domestic and wild mink. Our finding of a novel HEV variant supports previous findings of HEV variants in a variety...

  6. Variant Creutzfeldt-Jakob Disease (vCJD)

    Science.gov (United States)

    ... Form Controls Cancel Submit Search the CDC Variant Creutzfeldt-Jakob Disease (vCJD) Note: Javascript is disabled or is not ... gov . Recommend on Facebook Tweet Share Compartir Variant Creutzfeldt-Jakob disease (vCJD) is a prion disease that was first ...

  7. Genetics Home Reference: GM2-gangliosidosis, AB variant

    Science.gov (United States)

    ... Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 links) ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type AB ...

  8. Assessment of Functional Effects of Unclassified Genetic Variants

    NARCIS (Netherlands)

    Couch, Fergus J.; Rasmussen, Lene Juel; Hofstra, Robert; Monteiro, Alvaro N. A.; Greenblatt, Marc S.; de Wind, Niels

    2008-01-01

    Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been

  9. Assessment of Functional Effects of Unclassified Genetic Variants

    NARCIS (Netherlands)

    Couch, Fergus J.; Rasmussen, Lene Juel; Hofstra, Robert; Monteiro, Alvaro N. A.; Greenblatt, Marc S.; de Wind, Niels

    Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been

  10. Association analysis identifies ZNF750 regulatory variants in psoriasis

    Directory of Open Access Journals (Sweden)

    Birnbaum Ramon Y

    2011-12-01

    Full Text Available Abstract Background Mutations in the ZNF750 promoter and coding regions have been previously associated with Mendelian forms of psoriasis and psoriasiform dermatitis. ZNF750 encodes a putative zinc finger transcription factor that is highly expressed in keratinocytes and represents a candidate psoriasis gene. Methods We examined whether ZNF750 variants were associated with psoriasis in a large case-control population. We sequenced the promoter and exon regions of ZNF750 in 716 Caucasian psoriasis cases and 397 Caucasian controls. Results We identified a total of 47 variants, including 38 rare variants of which 35 were novel. Association testing identified two ZNF750 haplotypes associated with psoriasis (p ZNF750 promoter and 5' UTR variants displayed a 35-55% reduction of ZNF750 promoter activity, consistent with the promoter activity reduction seen in a Mendelian psoriasis family with a ZNF750 promoter variant. However, the rare promoter and 5' UTR variants identified in this study did not strictly segregate with the psoriasis phenotype within families. Conclusions Two haplotypes of ZNF750 and rare 5' regulatory variants of ZNF750 were found to be associated with psoriasis. These rare 5' regulatory variants, though not causal, might serve as a genetic modifier of psoriasis.

  11. ADULT VARIANT BARTTER’S SYNDROME- A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ishwar Sidappa Hasabi

    2017-02-01

    Full Text Available BACKGROUND Bartter syndrome is a group of channelopathies with different genetic origins and molecular pathophysiologies, but sharing common feature of decreased tubular transport of sodium chloride in thick ascending loop of Henle (TAL, 1 although more common in antenatal group. Classic adult variant of Bartter syndrome is a rare entity. We hereby present a rare adult variant of classic Bartter syndrome.

  12. Combinations of Genetic Variants Occurring Exclusively in Patients

    Directory of Open Access Journals (Sweden)

    Erling Mellerup

    Full Text Available In studies of polygenic disorders, scanning the genetic variants can be used to identify variant combinations. Combinations that are exclusively found in patients can be separated from those combinations occurring in control persons. Statistical analyses can be performed to determine whether the combinations that occur exclusively among patients are significantly associated with the investigated disorder. This research strategy has been applied in materials from various polygenic disorders, identifying clusters of patient-specific genetic variant combinations that are significant associated with the investigated disorders. Combinations from these clusters are found in the genomes of up to 55% of investigated patients, and are not present in the genomes of any control persons. Keywords: Genetic variants, Polygenic disorder, Combinations of genetic variants, Patient-specific combinations

  13. Golden Rule of Morphology and Variants of Word forms

    Directory of Open Access Journals (Sweden)

    Hlaváčová Jaroslava

    2017-12-01

    Full Text Available In many languages, some words can be written in several ways. We call them variants. Values of all their morphological categories are identical, which leads to an identical morphological tag. Together with the identical lemma, we have two or more wordforms with the same morphological description. This ambiguity may cause problems in various NLP applications. There are two types of variants – those affecting the whole paradigm (global variants and those affecting only wordforms sharing some combinations of morphological values (inflectional variants. In the paper, we propose means how to tag all wordforms, including their variants, unambiguously. We call this requirement “Golden rule of morphology”. The paper deals mainly with Czech, but the ideas can be applied to other languages as well.

  14. Electrophoretic variants of blood proteins in Japanese, 7

    International Nuclear Information System (INIS)

    Satoh, Chiyoko; Takahashi, Norio; Kimura, Yasukazu; Miura, Akiko; Kaneko, Junko; Fujita, Mikio; Toyama, Kyoko.

    1986-11-01

    A total of 16,835 children, of whom 11,737 are unrelated, from Hiroshima and Nagasaki were examined for erythrocyte cytoplasmic glutamate-oxaloacetate transaminase (GOT1) by starch gel electrophoresis. A variant allele named GOT1*2HR1 which seems to be identical with GOT1*2 was encountered in polymorphic frequency. Five kinds of rare variants, 3NG1, 4NG1, 5NG1, 6HR1, and 7NG1 were encountered in a total of 109 children. Except for 7NG1 for which complete family study was unable, family studies confirmed the genetic nature of these rare variants, since for all instances in which both parents could be examined, one of the parents exhibited the same variant as that of their child. Thermostability profiles of these six variants were normal. The enzyme activities of five were decreased, while the value of one was normal compared to that of GOT1 1. (author)

  15. Emprendimiento social, una mirada a la equidad

    Directory of Open Access Journals (Sweden)

    Ignacio Barrios Parejo

    2017-07-01

    Full Text Available Este artículo comprende una revisión teórica acerca del emprendimiento social, entendido como una iniciativa de negocio con o sin fin de lucro, cuyo objetivo es la generación de valor social. Siendo este un campo de investigación reciente y atractivo, el objetivo de esta revisión consiste a su vez en identificar y generar una transformación social real, a partir de la reducción de los índices de pobreza, de la percepción de injusticia entre los ciudadanos y del aumento de la capacidad del país para darle a cada uno de sus ciudadanos lo que se merece en función de sus méritos y condiciones.

  16. Bayesian detection of causal rare variants under posterior consistency.

    KAUST Repository

    Liang, Faming

    2013-07-26

    Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD), to tackle this problem. The new method simultaneously addresses two issues: (i) (Global association test) Are there any of the variants associated with the disease, and (ii) (Causal variant detection) Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI) Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

  17. Bayesian detection of causal rare variants under posterior consistency.

    Directory of Open Access Journals (Sweden)

    Faming Liang

    Full Text Available Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD, to tackle this problem. The new method simultaneously addresses two issues: (i (Global association test Are there any of the variants associated with the disease, and (ii (Causal variant detection Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

  18. Bayesian detection of causal rare variants under posterior consistency.

    KAUST Repository

    Liang, Faming; Xiong, Momiao

    2013-01-01

    Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD), to tackle this problem. The new method simultaneously addresses two issues: (i) (Global association test) Are there any of the variants associated with the disease, and (ii) (Causal variant detection) Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI) Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

  19. Implementación de una red WAN en una escudería de F1

    OpenAIRE

    García Muñoz, Luis Eduardo

    2013-01-01

    TFC en el que se detalla la implementación de una red WAN en una escudería de Fórmula 1. TFC en què es detalla la implementació d'una xarxa WAN en una escuderia de Fórmula 1. Bachelor thesis for the Telecommunication Technologies program on Telematics.

  20. Editorial. Una Sabiduría Humanista

    Directory of Open Access Journals (Sweden)

    Angel Rodrigo Velez Bedoya

    2010-12-01

    Full Text Available La construcción de una sociedad justa, equitativa, solidaria y, ante todo, humana, sigue siendo una tarea de nunca acabar; parece ser que la racionalización moderna, la instrumentalización científica y tecnológica, la pérdida del sujeto, el impersonalismo y la masificación de las organizaciones, así como la pérdida paulatina del mundo de la vida, emergen cada vez mayor fuerza como problemas de difícil solución.

  1. Para tener entre manos una revista

    OpenAIRE

    Gabriel Giannone

    2017-01-01

    Consideramos importante rescatar el trabajo colectivo y acumulado que precede y sucede a la labor de intermediación académica que realiza una revista. Para ello recordamos una clásica frase prologal: el texto que usted tiene en sus manos. Con cierta ironía, porque quizás muy pocos de los lectores puedan tener entre manos y oler el papel impreso de Chasqui. Desde sus pantallas, sus tablets o sus teléfonos la intención es que se comprenda este número como un solo cuerpo. Y al mismo tiempo, como...

  2. Toponimia: una preziosa eredità

    OpenAIRE

    Crivelli, Ruggero

    2013-01-01

    Nel 2008, Mauro Corona pubblica un libro il cui titolo è I fantasmi di pietra. In questo suo libro, l’autore racconta storie di vita del suo villaggio, Erto, nella regione del Vajont, distrutto dall’alluvione del 1963 e praticamente abbandonato da allora. Con il pretesto di una visita sui luoghi della sua infanzia, di cui non restano che le rovine delle case e delle piazze, lo scrittore si sofferma in questo o in quel luogo e racconta: racconta spezzoni di una vita passata i cui protagonisti ...

  3. En busca de una escuela posible

    Directory of Open Access Journals (Sweden)

    Gloria Domínguez Chillón

    2003-01-01

    Full Text Available La historia de las reformas educativas promovidas desde el poder político es una historia de sucesivas frustraciones. No obstante muchos profesores siguen buscando las formas de construir una escuela mejor. Se presenta la experiencia personal de la autora, comprometida en esta búsqueda, partiendo de su planteamiento educativo en relación con la Educación Infantil. Ese planteamiento se concreta entre otras cosas, en la organización de las actividades en torno a Proyectos de Trabajo, de los que se nos muestra un ejemplo detallando los pasos seguidos en su desarrollo.

  4. Una politica dell’open access

    Directory of Open Access Journals (Sweden)

    Marco Pasini

    2008-12-01

    Full Text Available L’accesso libero al sapere è lo strumento principale per l’attuazione della democrazia del sapere. Per quello che ho potuto intuire fin dalle prime letture e comprendere poi meglio attraverso lo studio, vista la mia attività di traduzione, ho sempre notato la completezza nelle tematiche trattate e la varietà scientifica degli autori degli articoli. Questa caratteristica rappresenta certamente una garanzia di confronto e allo stesso tempo aumenta gli stimoli all’essere propositivo nel misurarsi in nuovi campi di applicazione, è una continua ricerca.

  5. El prematuro: una esperanza de vida

    OpenAIRE

    Betancur R., Diana Helena; Fundación Valle de Lili; Garzón F., Lucía

    1999-01-01

    Factores prenatales de riesgo para el feto/Alteraciones inherentes a la prematuréz/Manejo del niño prematuro/ ¿Existe relación entre la actividad física y los partos prematuros?/ ¿Cómo se puede prevenir la prematuréz?/ ¿El recién nacido prematuro puede llevar una vida normal una vez es dado de alta?/ ¿Qué tipo de alimentación deberá recibir el prematuro?/ ¿Cuándo debe usted consultar a su pediatra?

  6. A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

    NARCIS (Netherlands)

    Rivas, Manuel A.; Graham, Daniel; Sulem, Patrick; Stevens, Christine; Desch, A. Nicole; Goyette, Philippe; Gudbjartsson, Daniel; Jonsdottir, Ingileif; Thorsteinsdottir, Unnur; Degenhardt, Frauke; Mucha, Soeren; Kurki, Mitja I.; Li, Dalin; D'Amato, Mauro; Annese, Vito; Vermeire, Severine; Weersma, Rinse K.; Halfvarson, Jonas; Paavola-Sakki, Paulina; Lappalainen, Maarit; Lek, Monkol; Cummings, Beryl; Tukiainen, Taru; Haritunians, Talin; Halme, Leena; Koskinen, Lotta L. E.; Ananthakrishnan, Ashwin N.; Luo, Yang; Heap, Graham A.; Visschedijk, Marijn C.; MacArthur, Daniel G.; Neale, Benjamin M.; Ahmad, Tariq; Anderson, Carl A.; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Cho, Judy H.; Palotie, Aarno; Saavalainen, Paivi; Kontula, Kimmo; Farkkila, Martti; McGovern, Dermot P. B.; Franke, Andre; Stefansson, Kari; Rioux, John D.; Xavier, Ramnik J.; Daly, Mark J.

    Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants

  7. Genetics Home Reference: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant

    Science.gov (United States)

    ... SBBYS variant Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Printable PDF Open All Close All Enable ... collapse boxes. Description The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare ...

  8. Genotype–phenotype correlations in individuals with pathogenic RERE variants

    Science.gov (United States)

    Jordan, Valerie K.; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J.; Balci, Tugce B.; Carter, Melissa T.; Bernat, John A.; Moccia, Amanda N.; Srivastava, Anshika; Martin, Donna M.; Bielas, Stephanie L.; Pappas, John; Svoboda, Melissa D.; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M.; Scaglia, Fernando; Kohler, Jennefer N.; Bernstein, Jonathan A.; Dries, Annika M.; Rosenfeld, Jill A.; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H.; Bi, Weimin; Scott, Daryl A.

    2018-01-01

    Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss-of-function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype–phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7. PMID:29330883

  9. Gain-of-function HCN2 variants in genetic epilepsy.

    Science.gov (United States)

    Li, Melody; Maljevic, Snezana; Phillips, A Marie; Petrovski, Slave; Hildebrand, Michael S; Burgess, Rosemary; Mount, Therese; Zara, Federico; Striano, Pasquale; Schubert, Julian; Thiele, Holger; Nürnberg, Peter; Wong, Michael; Weisenberg, Judith L; Thio, Liu Lin; Lerche, Holger; Scheffer, Ingrid E; Berkovic, Samuel F; Petrou, Steven; Reid, Christopher A

    2018-02-01

    Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes. The p.S632W variant was identified in a patient with idiopathic photosensitive occipital epilepsy and segregated in the family. This variant was also independently identified in an unrelated patient with childhood absence seizures from a European cohort of 238 familial GGE cases. The p.V246M variant was identified in a patient with photo-sensitive GGE and his father diagnosed with juvenile myoclonic epilepsy. Functional studies revealed that both p.S632W and p.V246M had an identical functional impact including a depolarizing shift in the voltage dependence of activation that is consistent with a gain-of-function. In contrast, no biophysical changes resulted from the introduction of common population variants, p.E280K and p.A705T, and the p.R756C variant from EPGP that did not segregate with disease. Our data suggest that HCN2 variants can confer susceptibility to GGE via a gain-of-function mechanism. © 2017 Wiley Periodicals, Inc.

  10. NMNAT1 variants cause cone and cone-rod dystrophy.

    Science.gov (United States)

    Nash, Benjamin M; Symes, Richard; Goel, Himanshu; Dinger, Marcel E; Bennetts, Bruce; Grigg, John R; Jamieson, Robyn V

    2018-03-01

    Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). We report two patients where clinical phenotyping indicated diagnoses of CD and CRD, respectively. NMNAT1 variants were identified, with Case 1 showing an extremely rare homozygous variant c.[271G > A] p.(Glu91Lys) and Case 2 compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys). The detailed variant analysis, in combination with the observation of an associated macular atrophy phenotype, indicated that these variants were disease-causing. This report demonstrates that the variants in NMNAT1 may cause CD or CRD associated with macular atrophy. Genetic investigations of the patients with CD or CRD should include NMNAT1 in the genes examined.

  11. A geometric framework for evaluating rare variant tests of association.

    Science.gov (United States)

    Liu, Keli; Fast, Shannon; Zawistowski, Matthew; Tintle, Nathan L

    2013-05-01

    The wave of next-generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous statistical methods have been proposed to aggregate association signals across multiple rare variant sites in an effort to increase statistical power; however, the precise relation between the tests is often not well understood. We present a geometric representation for rare variant data in which rare allele counts in case and control samples are treated as vectors in Euclidean space. The geometric framework facilitates a rigorous classification of existing rare variant tests into two broad categories: tests for a difference in the lengths of the case and control vectors, and joint tests for a difference in either the lengths or angles of the two vectors. We demonstrate that genetic architecture of a trait, including the number and frequency of risk alleles, directly relates to the behavior of the length and joint tests. Hence, the geometric framework allows prediction of which tests will perform best under different disease models. Furthermore, the structure of the geometric framework immediately suggests additional classes and types of rare variant tests. We consider two general classes of tests which show robustness to noncausal and protective variants. The geometric framework introduces a novel and unique method to assess current rare variant methodology and provides guidelines for both applied and theoretical researchers. © 2013 Wiley Periodicals, Inc.

  12. Behavioural-variant frontotemporal dementia: An update

    Directory of Open Access Journals (Sweden)

    Olivier Piguet

    Full Text Available ABSTRACT Behavioural-variant frontotemporal dementia (bvFTD is characterised by insidious changes in personality and interpersonal conduct that reflect progressive disintegration of the neural circuits involved in social cognition, emotion regulation, motivation and decision making. The underlying pathology is heterogeneous and classified according to the presence of intraneuronal inclusions of tau, TDP-43 or occasionally FUS. Biomarkers to detect these histopathological changes in life are increasingly important with the development of disease-modifying drugs. Gene mutations have been found which collectively account for around 10-20% of cases including a novel hexanucleotide repeat on chromosome 9 (C9orf72. The recently reviewed International Consensus Criteria for bvFTD propose three levels of diagnostic certainly: possible, probable and definite. Detailed history taking from family members to elicit behavioural features underpins the diagnostic process with support from neuropsychological testing designed to detect impairment in decision-making, emotion processing and social cognition. Brain imaging is important for increasing the level of diagnosis certainty. Carer education and support remain of paramount importance.

  13. Spatially variant morphological restoration and skeleton representation.

    Science.gov (United States)

    Bouaynaya, Nidhal; Charif-Chefchaouni, Mohammed; Schonfeld, Dan

    2006-11-01

    The theory of spatially variant (SV) mathematical morphology is used to extend and analyze two important image processing applications: morphological image restoration and skeleton representation of binary images. For morphological image restoration, we propose the SV alternating sequential filters and SV median filters. We establish the relation of SV median filters to the basic SV morphological operators (i.e., SV erosions and SV dilations). For skeleton representation, we present a general framework for the SV morphological skeleton representation of binary images. We study the properties of the SV morphological skeleton representation and derive conditions for its invertibility. We also develop an algorithm for the implementation of the SV morphological skeleton representation of binary images. The latter algorithm is based on the optimal construction of the SV structuring element mapping designed to minimize the cardinality of the SV morphological skeleton representation. Experimental results show the dramatic improvement in the performance of the SV morphological restoration and SV morphological skeleton representation algorithms in comparison to their translation-invariant counterparts.

  14. CRY2 genetic variants associate with dysthymia.

    Directory of Open Access Journals (Sweden)

    Leena Kovanen

    Full Text Available People with mood disorders often have disruptions in their circadian rhythms. Recent molecular genetics has linked circadian clock genes to mood disorders. Our objective was to study two core circadian clock genes, CRY1 and CRY2 as well as TTC1 that interacts with CRY2, in relation to depressive and anxiety disorders. Of these three genes, 48 single-nucleotide polymorphisms (SNPs whose selection was based on the linkage disequilibrium and potential functionality were genotyped in 5910 individuals from a nationwide population-based sample. The diagnoses of major depressive disorder, dysthymia and anxiety disorders were assessed with a structured interview (M-CIDI. In addition, the participants filled in self-report questionnaires on depressive and anxiety symptoms. Logistic and linear regression models were used to analyze the associations of the SNPs with the phenotypes. Four CRY2 genetic variants (rs10838524, rs7121611, rs7945565, rs1401419 associated significantly with dysthymia (false discovery rate q<0.05. This finding together with earlier CRY2 associations with winter depression and with bipolar type 1 disorder supports the view that CRY2 gene has a role in mood disorders.

  15. Variant Carvajal syndrome with additional dental anomalies.

    Science.gov (United States)

    Barber, Sophy; Day, Peter; Judge, Mary; Toole, Edell O'; Fayle, Stephen

    2012-09-01

    This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death. The case is discussed with reference to a number of dermatological and oral conditions which were considered as possible diagnoses. AW had been under long term dental care for prepubertal periodontitis, premature root resorption of primary teeth, soft tissue and dental anomalies, and angular cheilitis. Separately she had also been seen by several dermatologists with respect to palmar plantar keratosis, striae keratoderma, wiry hair and abnormal finger nails. Tragically the patient suffered a sudden unexpected death and the subsequent post mortem identified an undiagnosed dilated cardiomyopathy. The most likely diagnosis is that this case is a variant of Carvajal Syndrome with additional dental anomalies. To date we have been unable to identify mutations in the desoplakin gene. We aim to emphasise the importance of recognising these dental and dermatological signs when they present together as a potential risk factor for cardiac abnormalities. © 2012 The Authors. International Journal of Paediatric Dentistry © 2012 BSPD, IAPD and Blackwell Publishing Ltd.

  16. Identification of copy number variants in horses

    KAUST Repository

    Doan, R.

    2012-03-01

    Copy number variants (CNVs) represent a substantial source of genetic variation in mammals. However, the occurrence of CNVs in horses and their subsequent impact on phenotypic variation is unknown. We performed a study to identify CNVs in 16 horses representing 15 distinct breeds (Equus caballus) and an individual gray donkey (Equus asinus) using a whole-exome tiling array and the array comparative genomic hybridization methodology. We identified 2368 CNVs ranging in size from 197 bp to 3.5 Mb. Merging identical CNVs from each animal yielded 775 CNV regions (CNVRs), involving 1707 protein- and RNA-coding genes. The number of CNVs per animal ranged from 55 to 347, with median and mean sizes of CNVs of 5.3 kb and 99.4 kb, respectively. Approximately 6% of the genes investigated were affected by a CNV. Biological process enrichment analysis indicated CNVs primarily affected genes involved in sensory perception, signal transduction, and metabolism. CNVs also were identified in genes regulating blood group antigens, coat color, fecundity, lactation, keratin formation, neuronal homeostasis, and height in other species. Collectively, these data are the first report of copy number variation in horses and suggest that CNVs are common in the horse genome and may modulate biological processes underlying different traits observed among horses and horse breeds.

  17. PERSPECTIVAS PARA UNA TEOLOGIA LATINO AMERICANA

    Directory of Open Access Journals (Sweden)

    Juan Luis Segundo

    1977-01-01

    Full Text Available La teologia es parte de Ia cultura general, no un fenômeno aparte. Y Io que podríamos Mamar "nuestra" cultura es una determinada mezcla de elementos autóctones y de elementos importados. Lo que no eqüivale a decir; elementos autênticos e inauténticos.

  18. Enrico Fermi significato di una scoperta

    CERN Document Server

    2001-01-01

    Questo volume è la riedizione, rinnovata ed ampliata, del volume "Enrico Fermi. Significato di una scoperta" edito dal FIEN (Forum Italiano dell'Energia Nucleare) nel 1982 e nel 1992 in occasione, rispettivamente, del 40mo e del 50mo anniversario della pila di Fermi.

  19. Evolución de una casa

    Directory of Open Access Journals (Sweden)

    Mac L. Johansen, John

    1958-02-01

    Full Text Available La forma, aspecto, estructura, concepción y realización de una casa están en estrecha relación con el ambiente cultural, social y técnico que la rodean y con ellos evolucionan.

  20. La discapacidad: una imagen del paradigma.

    Directory of Open Access Journals (Sweden)

    Gloria Lucía Sierra.

    2002-03-01

    Full Text Available La educación especial ha refinado por siglos una intervención dirigida a la funcionalidad del organismo que aloja al sujeto discapacitado. Esta tendencia nos señala un apuntalamiento a lo real, que ignora a lo simbólico y a lo imaginario como dimensiones constituyentes del sujeto.

  1. Cubierta de madera para una nave industrial

    Directory of Open Access Journals (Sweden)

    Hossdorf, Heinz

    1958-05-01

    Full Text Available Para la ampliación de los talleres de Hans Schmidlin, de Basilea, Suiza, dedicados a la prefabricación de elementos de construcción de madera y metales ligeros para fachadas, se ha construido una nueva nave, rectangular, de 49x55,4 m en planta.

  2. Abrir una Venus: Hablar con ella

    Directory of Open Access Journals (Sweden)

    Ginnette Barrantes Sáenz

    2013-09-01

    Se propone a Alicia como la Venus abierta que  incita, mediante  la  cita cinematográfica del cine mudo en el cine de Almodóvar, la no tan conocida figura de  amar a una  dormida( Allouch, 2005

  3. Una descomposición convexa

    Directory of Open Access Journals (Sweden)

    Mario Lomelí - Haro

    2014-01-01

    Full Text Available Dada una colección P de puntos en el plano, una descomposición convexa de P es un conjunto Γ de polígonos convexos convértices en P que satisfacen lo siguiente: La unión de todos los elementos de Γ es el cierre convexo de P, cada elemento de Γ es vacío (no contiene a ningún otro elemento de P en su interior y para cualesquiera 2 elementos diferentes en Γ sus interiores son disjuntos (se intersecarán en a lo más una arista. Únicamente se sabe que existen descomposiciones convexas con a lo más 7n/5 elementos para toda colección de n puntos. En este trabajo diremos cómo obtener una descomposición convexa específica de P con a lo más 3n/ 2 elementos.

  4. Human papillomavirus type-16 variants in Quechua aboriginals from Argentina.

    Science.gov (United States)

    Picconi, María Alejandra; Alonio, Lidia Virginia; Sichero, Laura; Mbayed, Viviana; Villa, Luisa Lina; Gronda, Jorge; Campos, Rodolfo; Teyssié, Angélica

    2003-04-01

    Cervical carcinoma is the leading cause of cancer death in Quechua indians from Jujuy (northwestern Argentina). To determine the prevalence of HPV-16 variants, 106 HPV-16 positive cervical samples were studied, including 33 low-grade squamous intraepithelial lesions (LSIL), 28 high-grade squamous intraepithelial lesions (HSIL), 9 invasive cervical cancer (ICC), and 36 samples from women with normal colposcopy and cytology. HPV genome variability was examined in the L1 and E6 genes by PCR-hybridization. In a subset of 20 samples, a LCR fragment was also analyzed by PCR-sequencing. Most variants belonged to the European branch with subtle differences that depended on the viral gene fragment studied. Only about 10% of the specimens had non-European variants, including eight Asian-American, two Asian, and one North-American-1. E6 gene analysis revealed that 43% of the samples were identical to HPV-16 prototype, while 57% corresponded to variants. Interestingly, the majority (87%) of normal smears had HPV-16 prototype, whereas variants were detected mainly in SIL and ICC. LCR sequencing yielded 80% of variants, including 69% of European, 19% Asian-American, and 12% Asian. We identified a new variant, the Argentine Quechua-51 (AQ-51), similar to B-14 plus two additional changes: G7842-->A and A7837-->C; phylogenetic inference allocated it in the Asian-American branch. The high proportion of European variants may reflect Spanish colonial influence on these native Inca descendants. The predominance of HPV-16 variants in pathologic samples when compared to normal controls could have implications for the natural history of cervical lesions. Copyright 2003 Wiley-Liss, Inc.

  5. A variational Bayes discrete mixture test for rare variant association.

    Science.gov (United States)

    Logsdon, Benjamin A; Dai, James Y; Auer, Paul L; Johnsen, Jill M; Ganesh, Santhi K; Smith, Nicholas L; Wilson, James G; Tracy, Russell P; Lange, Leslie A; Jiao, Shuo; Rich, Stephen S; Lettre, Guillaume; Carlson, Christopher S; Jackson, Rebecca D; O'Donnell, Christopher J; Wurfel, Mark M; Nickerson, Deborah A; Tang, Hua; Reiner, Alexander P; Kooperberg, Charles

    2014-01-01

    Recently, many statistical methods have been proposed to test for associations between rare genetic variants and complex traits. Most of these methods test for association by aggregating genetic variations within a predefined region, such as a gene. Although there is evidence that "aggregate" tests are more powerful than the single marker test, these tests generally ignore neutral variants and therefore are unable to identify specific variants driving the association with phenotype. We propose a novel aggregate rare-variant test that explicitly models a fraction of variants as neutral, tests associations at the gene-level, and infers the rare-variants driving the association. Simulations show that in the practical scenario where there are many variants within a given region of the genome with only a fraction causal our approach has greater power compared to other popular tests such as the Sequence Kernel Association Test (SKAT), the Weighted Sum Statistic (WSS), and the collapsing method of Morris and Zeggini (MZ). Our algorithm leverages a fast variational Bayes approximate inference methodology to scale to exome-wide analyses, a significant computational advantage over exact inference model selection methodologies. To demonstrate the efficacy of our methodology we test for associations between von Willebrand Factor (VWF) levels and VWF missense rare-variants imputed from the National Heart, Lung, and Blood Institute's Exome Sequencing project into 2,487 African Americans within the VWF gene. Our method suggests that a relatively small fraction (~10%) of the imputed rare missense variants within VWF are strongly associated with lower VWF levels in African Americans.

  6. The Woodlands: Una forma diferente de gobernar

    Directory of Open Access Journals (Sweden)

    Raquel Insa-Ciriza

    2010-06-01

    Full Text Available The Woodlands (Texas es uno de los mejores ejemplos de éxito de los partenariados público-privados entre el Departamento de Urbanismo y Vivienda Americano (Department of Housing and Urban Development, US - HUD y la empresa privada. The Woodlands, que fue creada como una «Nueva Ciudad» por la compañía Mitchell Energy & Development Corporation, ha ido creciendo y creando una masa crítica de residentes, trabajadores, su propio sentido de comunidad y lo más importante, su propia forma de gobierno. Es el único caso en Estados Unidos de ciudad gobernada por asociaciones privadas. Estas asociaciones, representadas por un Consejo de Administración, proveen la mayoría de los servicios públicos a los ciudadanos. En este artículo se muestra lo que llamo «complicidad ciudadana» basada en lo que el Nuevo Servicio Público define como gobierno basado en la comunidad. Ellos no están reinventando ninguna clase de gobierno, lo que están haciendo es crear una nueva forma de gobierno en la que los ciudadanos prefieren tomar el mando que servir. El estudio del caso que muestro nos ayuda a entender cómo una mayor participación de los ciudadanos en las tareas de la administración local puede hacer disminuir visiblemente el poder del promotor en el desarrollo de una Nueva Ciudad. Esta complicidad ciudadana se traduce en términos de implicación de los miembros de la comunidad en el crecimiento y en el Gobierno de la ciudad

  7. Nueva variante de abordaje al surco ciliar en la fijación transescleral de lentes de cámara posterior New variant of approach to the ciliary sulcus in the transcleral fixation of posterior chamber lens

    Directory of Open Access Journals (Sweden)

    Ileana Vila Dópico

    2002-06-01

    Full Text Available Se expone una variante de abordaje al surco ciliar para la fijación del lente intraocular de cámara posterior, que está a nuestro alcance, en pacientes en que no existe soporte capsular o este es insuficiente. Se describe la técnica. Se realizó en 17 pacientes de los que se obtuvo mejoría visual en todos los casos (20/50-20/20 con un seguimiento promedio de 12 meses. Esta variante tiene la ventaja de evitar el paso de la aguja por el surco ciliar a ciegas, pues se utiliza el abordaje a través de la esclera y con ello evitamos dañar estructuras oculares aledañas evitando el riesgo de complicaciones por lo que se logra la recuperación anatómica y funcional en todos los casos.A variant to approach the ciliary sulcus for fixating the posterior chamber intraocular lens, which is within our reach, in patients with insufficient or no capsular support, is explained. The technique is described here and it was applied to 17 patients. Visual improvement was obtained in all cases (20/50-20/20 with an average follow-up of 12 months. This variant allows to prevent the blind passage of the needle through the ciliary sulcus, since it is approached via the sclera, avoiding to damage adjoining ocular structures and to have complications, and making possible the anatomic and functional recovery of all patients.

  8. Structure of chymotrypsin variant B from Atlantic cod, Gadus morhua

    DEFF Research Database (Denmark)

    Leth-Larsen, Rikke; Asgeirsson, B; Thórólfsson, M

    1996-01-01

    The amino-acid sequence of chymotrypsin variant B isolated from the pyloric caeca of Atlantic cod has been elucidated. The characterization of the primary structure is based on N-terminal Edman degradation and mass spectrometry of the native protein and enzymatically derived peptides. Chymotrypsi...... autolysis sites, cod variant B only contains a single autolysis site. The three-dimensional structures of the A- and B-variants of cod has been modelled on the known crystal structure of bovine alpha-chymotrypsin showing almost superimposable structures....

  9. Variant of Rett syndrome and CDKL5 gene

    DEFF Research Database (Denmark)

    Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt

    2012-01-01

    UNLABELLED: Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene. AIMS: In recent years more than 60 patients with mutations in the CDKL5 gene have...... been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls. METHODS: 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all...

  10. Radioimmunological activity of 22K variant of human growth hormone

    International Nuclear Information System (INIS)

    Camillo, M.A.P.; Ribela, M.T.C.P.; Rogero, J.R.

    1986-01-01

    From a preparation of human growth hormone its integral variant (hGH-22K) was isolated by isoelectric focusing, having a pI of 5,20 and relative mobility (Rm) of 0,621 in the polyacrylamide gel electrophoresis. Several experiments for the characterization of the isolated variant were carried out. The immunological properties was tested by radioimmunoassay (RIE), in which the activity of the isolated variant and the activity of the total preparation were compared. The dose response-curves obtained by RIE were found to be considered parallels (p [pt

  11. Variante de Dandy Walker: relato de caso = Dandy Walker variant: a case report

    Directory of Open Access Journals (Sweden)

    Khan, Richard Lester

    2009-01-01

    Conclusões: este artigo procura caracterizar a variante de Dandy Walker, que é uma malformação congênita do sistema nervoso central e é o tipo mais comum da Síndrome de Dandy Walker. Seu fenótipo é variável, devendo-se sempre pesquisar malformações tanto intra quanto extracranianas, visto que o risco de mortalidade pós-natal aumenta quando existe esta associação. O tratamento envolve equipe multidisciplinar e o prognóstico é reservado, variando conforme o fenótipo

  12. Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

    Science.gov (United States)

    Sivley, R Michael; Sheehan, Jonathan H; Kropski, Jonathan A; Cogan, Joy; Blackwell, Timothy S; Phillips, John A; Bush, William S; Meiler, Jens; Capra, John A

    2018-01-23

    Next-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains information about function and pathogenicity that can help prioritize variants of unknown significance (VUS) and elucidate the structural mechanisms leading to disease. To illustrate this approach in a clinical application, we analyzed 13 candidate missense variants in regulator of telomere elongation helicase 1 (RTEL1) identified in patients with Familial Interstitial Pneumonia (FIP). We curated pathogenic and neutral RTEL1 variants from the literature and public databases. We then used homology modeling to construct a 3D structural model of RTEL1 and mapped known variants into this structure. We next developed a pathogenicity prediction algorithm based on proximity to known disease causing and neutral variants and evaluated its performance with leave-one-out cross-validation. We further validated our predictions with segregation analyses, telomere lengths, and mutagenesis data from the homologous XPD protein. Our algorithm for classifying RTEL1 VUS based on spatial proximity to pathogenic and neutral variation accurately distinguished 7 known pathogenic from 29 neutral variants (ROC AUC = 0.85) in the N-terminal domains of RTEL1. Pathogenic proximity scores were also significantly correlated with effects on ATPase activity (Pearson r = -0.65, p = 0.0004) in XPD, a related helicase. Applying the algorithm to 13 VUS identified from sequencing of RTEL1 from patients predicted five out of six disease-segregating VUS to be pathogenic. We provide structural hypotheses regarding how these mutations may disrupt RTEL1 ATPase and helicase function. Spatial analysis of missense variation accurately classified candidate VUS in RTEL1 and suggests how such variants cause disease. Incorporating

  13. Myostatin: genetic variants, therapy and gene doping

    Directory of Open Access Journals (Sweden)

    André Katayama Yamada

    2012-09-01

    Full Text Available Since its discovery, myostatin (MSTN has been at the forefront of muscle therapy research because intrinsic mutations or inhibition of this protein, by either pharmacological or genetic means, result in muscle hypertrophy and hyperplasia. In addition to muscle growth, MSTN inhibition potentially disturbs connective tissue, leads to strength modulation, facilitates myoblast transplantation, promotes tissue regeneration, induces adipose tissue thermogenesis and increases muscle oxidative phenotype. It is also known that current advances in gene therapy have an impact on sports because of the illicit use of such methods. However, the adverse effects of these methods, their impact on athletic performance in humans and the means of detecting gene doping are as yet unknown. The aim of the present review is to discuss biosynthesis, genetic variants, pharmacological/genetic manipulation, doping and athletic performance in relation to the MSTN pathway. As will be concluded from the manuscript, MSTN emerges as a promising molecule for combating muscle wasting diseases and for triggering wide-ranging discussion in view of its possible use in gene doping.Desde sua descoberta, a miostatina (MSTN entrou na linha de frente em pesquisas relacionadas às terapias musculares porque mutações intrínsecas ou inibição desta proteína tanto por abordagens farmacológicas como genéticas resultam em hipertrofia muscular e hiperplasia. Além do aumento da massa muscular, a inibição de MSTN potencialmente prejudica o tecido conectivo, modula a força muscular, facilita o transplante de mioblastos, promove regeneração tecidual, induz termogênese no tecido adiposo e aumenta a oxidação na musculatura esquelética. É também sabido que os atuais avanços em terapia gênica têm uma relação com o esporte devido ao uso ilícito de tal método. Os efeitos adversos de tal abordagem, seus efeitos no desempenho de atletas e métodos para detectar doping genético s

  14. Una alternativa para el diseño de experimentos con grupos intactos

    Directory of Open Access Journals (Sweden)

    Raúl Hernández-Heredia

    2017-11-01

    Full Text Available Se ofrece una variante de la proyección del trabajo experimental con grupos docentes intactos. Sobre la base de seis grupos intactos no equivalentes, se conforma un grupo experimental y otro de control, a partir de la técnica de pareamiento grupal. El pareamiento se desarrolló tomando como punto de partida un diagnóstico inicial de tres capacidades físicas básicas de trascendencia para el entrenamiento deportivo. Como resultado se obtuvieron dos grupos equivalentes (experimental y control y se garantizó el control de variables ajenas, imprescindible para minimizar el nivel de incertidumbre en el trabajo experimental.

  15. Adult schizophrenic-like variant of adrenoleukodystrophy.

    Science.gov (United States)

    Szpak, G M; Lewandowska, E; Schmidt-Sidor, B; Popow, J; Kozłowski, P; Lechowicz, W; Kulczycki, J; Zaremba, J; Dymecki, J

    1996-01-01

    A 35-year-old man died after 30 months following the onset of the disease. There was a history of changes in his mental condition, including disturbances of behavior as well as the evidence of progressing dementia. The patient revealed gait disturbances and finally became bed ridden. Bizarre behavior and changes of mood with concurrent growing irritability which predominated during the course of disease, may explain the initial diagnosis of schizophrenia. Then cerebellar and spastic movement disorders leading to paraparesis and sphincters disturbances developed. Clinical symptoms of adrenal failure were not found apart from episodes of arterial pressure fall. After two years a magnetic resonance imaging (MRI) revealed an extensive diffuse demyelinative process in white matter of cerebral and cerebellar hemispheres. Activity of lysosomal enzymes was normal. A general autopsy revealed atrophy of adrenal cortex and the presence of ballooned cells with striated cytoplasm in the reticular and fasciculate zones. Neuropathological examination revealed an extensive demyelination of white matter in cerebral and cerebellar hemispheres and of the long paths of the brain stem, corresponding to changes in MRI examination. Within demyelination areas damage of axons and diffuse cellular and fibrous gliosis were found as well as perivascular lymphocytic infiltrations with the presence of strong PAS (+) and Sudan (+) macrophages. Immunocytochemical reactions with HAM-56 and RCA1 in macrophages were positive. Electron microscopy examination revealed lamellar inclusions in cytoplasm of macrophages. Similar structures were present in the lysosomes of astrocytes. Morphological examination of adrenal glands as well as morphological and ultrastructural study of the brain allowed us to diagnose the cerebral form of adrenoleukodystrophy (ALD). Topography and character of the brain changes seems to be in keeping with a rare schizophrenic-like variant of ALD with progressive dementia

  16. Leapfrog variants of iterative methods for linear algebra equations

    Science.gov (United States)

    Saylor, Paul E.

    1988-01-01

    Two iterative methods are considered, Richardson's method and a general second order method. For both methods, a variant of the method is derived for which only even numbered iterates are computed. The variant is called a leapfrog method. Comparisons between the conventional form of the methods and the leapfrog form are made under the assumption that the number of unknowns is large. In the case of Richardson's method, it is possible to express the final iterate in terms of only the initial approximation, a variant of the iteration called the grand-leap method. In the case of the grand-leap variant, a set of parameters is required. An algorithm is presented to compute these parameters that is related to algorithms to compute the weights and abscissas for Gaussian quadrature. General algorithms to implement the leapfrog and grand-leap methods are presented. Algorithms for the important special case of the Chebyshev method are also given.

  17. Behavioral variant of frontotemporal dementia mimicking Huntington's disease

    DEFF Research Database (Denmark)

    Nielsen, T Rune; Bruhn, Peter; Nielsen, Jørgen E

    2010-01-01

    Behavioral changes and cognitive decline are the core clinical manifestations in the behavioral variant of frontotemporal dementia (bv-FTD). The behavioral changes may include characteristic stereotypic movements. These movements, although without clear purpose, are not involuntary. Involuntary...

  18. Variant Plasmodium ovale isolated from a patient infected in Ghana

    Directory of Open Access Journals (Sweden)

    Petersen Eskild

    2011-01-01

    Full Text Available Abstract Recent data have found that Plasmodium ovale can be separated in two distinct species: classic and variant P. ovale based on multilocus typing of different genes. This study presents a P. ovale isolate from a patient infected in Ghana together with an analysis of the small subunit RNA, cytochrome b, cytochrome c oxidase I, cysteine protease and lactate dehydrogenase genes, which show that the sample is a variant P. ovale and identical or highly similar to variant P. ovale isolated from humans in South-East Asia and Africa, and from a chimpanzee in Cameroon. The split between the variant and classic P. ovale is estimated to have occurred 1.7 million years ago.

  19. Genetic variant as a marker for bladder cancer therapy

    Science.gov (United States)

    Patients who have inherited a specific common genetic variant develop bladder cancer tumors that strongly express a protein known as prostate stem cell antigen (PSCA), which is also expressed in many pancreatic and prostate tumors, according to research a

  20. Efficient population-scale variant analysis and prioritization with VAPr.

    Science.gov (United States)

    Birmingham, Amanda; Mark, Adam M; Mazzaferro, Carlo; Xu, Guorong; Fisch, Kathleen M

    2018-04-06

    With the growing availability of population-scale whole-exome and whole-genome sequencing, demand for reproducible, scalable variant analysis has spread within genomic research communities. To address this need, we introduce the Python package VAPr (Variant Analysis and Prioritization). VAPr leverages existing annotation tools ANNOVAR and MyVariant.info with MongoDB-based flexible storage and filtering functionality. It offers biologists and bioinformatics generalists easy-to-use and scalable analysis and prioritization of genomic variants from large cohort studies. VAPr is developed in Python and is available for free use and extension under the MIT License. An install package is available on PyPi at https://pypi.python.org/pypi/VAPr, while source code and extensive documentation are on GitHub at https://github.com/ucsd-ccbb/VAPr. kfisch@ucsd.edu.

  1. Genetic variants influencing lipid levels and risk of dyslipidemia in ...

    Indian Academy of Sciences (India)

    HUAICHAO LUO

    2017-12-18

    Dec 18, 2017 ... total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides. (TG) in 1900 ... in Chinese population, especially relationship between these genetic variants ...

  2. Common Gene Variants Account for Most Genetic Risk for Autism

    Science.gov (United States)

    ... gene variants account for most genetic risk for autism Roles of heritability, mutations, environment estimated – NIH-funded study. The bulk of risk, or liability, for autism spectrum disorders (ASD) was traced to inherited variations ...

  3. Method of generating ploynucleotides encoding enhanced folding variants

    Energy Technology Data Exchange (ETDEWEB)

    Bradbury, Andrew M.; Kiss, Csaba; Waldo, Geoffrey S.

    2017-05-02

    The invention provides directed evolution methods for improving the folding, solubility and stability (including thermostability) characteristics of polypeptides. In one aspect, the invention provides a method for generating folding and stability-enhanced variants of proteins, including but not limited to fluorescent proteins, chromophoric proteins and enzymes. In another aspect, the invention provides methods for generating thermostable variants of a target protein or polypeptide via an internal destabilization baiting strategy. Internally destabilization a protein of interest is achieved by inserting a heterologous, folding-destabilizing sequence (folding interference domain) within DNA encoding the protein of interest, evolving the protein sequences adjacent to the heterologous insertion to overcome the destabilization (using any number of mutagenesis methods), thereby creating a library of variants. The variants in the library are expressed, and those with enhanced folding characteristics selected.

  4. Genotype and phenotype spectrum of NRAS germline variants

    NARCIS (Netherlands)

    Altmuller, F.; Lissewski, C.; Bertola, D.; Flex, E.; Stark, Z.; Spranger, S.; Baynam, G.; Buscarilli, M.; Dyack, S.; Gillis, J.; Yntema, H.G.; Pantaleoni, F.; Loon, R.L. van; MacKay, S.; Mina, K.; Schanze, I.; Tan, T.Y.; Walsh, M.; White, S.M.; Niewisch, M.R.; Garcia-Minaur, S.; Plaza, D.; Ahmadian, M.R.; Cave, H.; Tartaglia, M.; Zenker, M.

    2017-01-01

    RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly

  5. Characterization of Canine parvovirus 2 variants circulating in Greece.

    Science.gov (United States)

    Ntafis, Vasileios; Xylouri, Eftychia; Kalli, Iris; Desario, Costantina; Mari, Viviana; Decaro, Nicola; Buonavoglia, Canio

    2010-09-01

    The aim of the present study was to characterize Canine parvovirus 2 (CPV-2) variants currently circulating in Greece. Between March 2008 and March 2009, 167 fecal samples were collected from diarrheic dogs from different regions of Greece. Canine parvovirus 2 was detected by standard polymerase chain reaction, whereas minor groove binder probe assays were used to distinguish genetic variants and discriminate between vaccine and field strains. Of 84 CPV-2-positive samples, 81 CPV-2a, 1 CPV-2b, and 2 CPV-2c were detected. Vaccine strains were not detected in any sample. Sequence analysis of the VP2 gene of the 2 CPV-2c viruses revealed up to 100% amino acid identity with the CPV-2c strains previously detected in Europe. The results indicated that, unlike other European countries, CPV-2a remains the most common variant in Greece, and that the CPV-2c variant found in Europe is also present in Greece.

  6. COMPARISON OF THE TEST VARIANTS IN ENTRANCE EXAMINATIONS

    Directory of Open Access Journals (Sweden)

    KLŮFA, Jindřich

    2016-12-01

    Full Text Available The paper contains an analysis of the differences of number of points in the test in mathematics between test variants, which were used in the entrance examinations at the Faculty of Business Administration at University of Economics in Prague in 2015. The differences may arise due to the varying difficulty of variants for students, but also because of the different level of knowledge of students who write these variants. This problem we shall study in present paper. The aim of this paper is to study dependence of the results of entrance examinations in mathematics on test variants. The results obtained will be used for further improvement of the admission process at University of Economics.

  7. Reversion in variants from a duplication strain of Aspergillus nidulans

    International Nuclear Information System (INIS)

    Menezes, E.M.; Azevedo, J.L.

    1978-01-01

    Strains of Aspergillus nidulans with a chromosome segment in duplicate, one in normal position and one translocated to another chromosome, are unstable at mitosis. In addition to variants which result from deletions in either of the duplicate segments, which usually have improved morphology, they produce variants with deteriorated morphology. Three deteriorated variants reverted frequently to parental type morphology, both spontaneously and after ultra-violet treatment. Of six reversions analysed genetically, five were due to suppressors and one was probably due to back mutation. The suppressors segregated as single genes and were not linked to the mutation which they suppress. The instability of these so-called 'deteriorated' variants is discussed in relation to mitotic instability phenomena in A. nidulans. (orig.) [de

  8. Protein variants in Hiroshima and Nagasaki: tales of two cities.

    Science.gov (United States)

    Neel, J V; Satoh, C; Smouse, P; Asakawa, J; Takahashi, N; Goriki, K; Fujita, M; Kageoka, T; Hazama, R

    1988-12-01

    The results of 1,465,423 allele product determinations based on blood samples from Hiroshima and Nagasaki, involving 30 different proteins representing 32 different gene products, are analyzed in a variety of ways, with the following conclusions: (1) Sibships and their parents are included in the sample. Our analysis reveals that statistical procedures designed to reduce the sample to equivalent independent genomes do not in population comparisons compensate for the familial cluster effect of rare variants. Accordingly, the data set was reduced to one representative of each sibship (937,427 allele products). (2) Both chi 2-type contrasts and a genetic distance measure (delta) reveal that rare variants (P less than .01) are collectively as effective as polymorphisms in establishing genetic differences between the two cities. (3) We suggest that rare variants that individually exhibit significant intercity differences are probably the legacy of tribal private polymorphisms that occurred during prehistoric times. (4) Despite the great differences in the known histories of the two cities, both the overall frequency of rare variants and the number of different rare variants are essentially identical in the two cities. (5) The well-known differences in locus variability are confirmed, now after adjustment for sample size differences for the various locus products; in this large series we failed to detect variants at only three of 29 loci for which sample size exceeded 23,000. (6) The number of alleles identified per locus correlates positively with subunit molecular weight. (7) Loci supporting genetic polymorphisms are characterized by more rare variants than are loci at which polymorphisms were not encountered. (8) Loci whose products do not appear to be essential for health support more variants than do loci the absence of whose product is detrimental to health. (9) There is a striking excess of rare variants over the expectation under the neutral mutation

  9. Family studies to find rare high risk variants in migraine.

    Science.gov (United States)

    Hansen, Rikke Dyhr; Christensen, Anne Francke; Olesen, Jes

    2017-12-01

    Migraine has long been known as a common complex disease caused by genetic and environmental factors. The pathophysiology and the specific genetic susceptibility are poorly understood. Common variants only explain a small part of the heritability of migraine. It is thought that rare genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families. A single migraine study using a candidate-gene approach was performed in 2010 identifying a rare mutation in the TRESK potassium channel segregating in a large family with migraine with aura, but this finding has later become questioned. The technologies of next-generation sequencing (NGS) now provides an affordable tool to investigate the genetic variation in the entire exome or genome. The family-based study design using NGS is described in this paper. We also review family studies using NGS that have been successful in finding rare variants in other common complex diseases in order to argue the promising application of a family approach to migraine. PubMed was searched to find studies that looked for rare genetic variants in common complex diseases through a family-based design using NGS, excluding studies looking for de-novo mutations, or using a candidate-gene approach and studies on cancer. All issues from Nature Genetics and PLOS genetics 2014, 2015 and 2016 (UTAI June) were screened for relevant papers. Reference lists from included and other relevant papers were also searched. For the description of the family-based study design using NGS an in-house protocol was used. Thirty-two successful studies, which covered 16 different common complex diseases, were included in this paper. We also found a single migraine study. Twenty-three studies found one or a few family specific

  10. Variants at the 9p21 locus and melanoma risk

    International Nuclear Information System (INIS)

    Maccioni, Livia; Rachakonda, Panduranga Sivaramakrishna; Bermejo, Justo Lorenzo; Planelles, Dolores; Requena, Celia; Hemminki, Kari; Nagore, Eduardo; Kumar, Rajiv

    2013-01-01

    The influence of variants at the 9p21 locus on melanoma risk has been reported through investigation of CDKN2A variants through candidate gene approach as well as by genome wide association studies (GWAS). In the present study we genotyped, 25 SNPs that tag 273 variants on chromosome 9p21 in 837 melanoma cases and 1154 controls from Spain. Ten SNPs were selected based on previous associations, reported in GWAS, with either melanocytic nevi or melanoma risk or both. The other 15 SNPs were selected to fine map the CDKN2A gene region. All the 10 variants selected from the GWAS showed statistically significant association with melanoma risk. Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3’ UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04). Interaction analysis between risk associated polymorphisms and previously genotyped MC1R variants, in the present study, did not show any statistically significant association. Statistical significant association was observed for the interaction between phototypes and the rs10811629 (located in intron 5 of MTAP). The strongest association was observed between the homozygous carrier of the A–allele and phototype II with an OR of 15.93 (95% CI 5.34-47.54). Our data confirmed the association of different variants at chromosome 9p21 with melanoma risk and we also found an association of a variant with skin phototypes

  11. Evaluating how variants of floristic quality assessment indicate wetland condition.

    Science.gov (United States)

    Kutcher, Thomas E; Forrester, Graham E

    2018-03-28

    Biological indicators are useful tools for the assessment of ecosystem condition. Multi-metric and multi-taxa indicators may respond to a broader range of disturbances than simpler indicators, but their complexity can make them difficult to interpret, which is critical to indicator utility for ecosystem management. Floristic Quality Assessment (FQA) is an example of a biological assessment approach that has been widely tested for indicating freshwater wetland condition, but less attention has been given to clarifying the factors controlling its response. FQA quantifies the aggregate of vascular plant species tolerance to habitat degradation (conservatism), and model variants have incorporated species richness, abundance, and indigenity (native or non-native). To assess bias, we tested FQA variants in open-canopy freshwater wetlands against three independent reference measures, using practical vegetation sampling methods. FQA variants incorporating species richness did not correlate with our reference measures and were influenced by wetland size and hydrogeomorphic class. In contrast, FQA variants lacking measures of species richness responded linearly to reference measures quantifying individual and aggregate stresses, suggesting a broad response to cumulative degradation. FQA variants incorporating non-native species, and a variant additionally incorporating relative species abundance, improved performance over using only native species. We relate our empirical findings to ecological theory to clarify the functional properties and implications of the FQA variants. Our analysis indicates that (1) aggregate conservatism reliably declines with increased disturbance; (2) species richness has varying relationships with disturbance and increases with site area, confounding FQA response; and (3) non-native species signal human disturbance. We propose that incorporating species abundance can improve FQA site-level relevance with little extra sampling effort. Using our

  12. Functional significance of SPINK1 promoter variants in chronic pancreatitis.

    Science.gov (United States)

    Derikx, Monique H M; Geisz, Andrea; Kereszturi, Éva; Sahin-Tóth, Miklós

    2015-05-01

    Chronic pancreatitis is a progressive inflammatory disorder of the pancreas, which often develops as a result of genetic predisposition. Some of the most frequently identified risk factors affect the serine protease inhibitor Kazal type 1 (SPINK1) gene, which encodes a trypsin inhibitor responsible for protecting the pancreas from premature trypsinogen activation. Recent genetic and functional studies indicated that promoter variants in the SPINK1 gene might contribute to disease risk in carriers. Here, we investigated the functional effects of 17 SPINK1 promoter variants using luciferase reporter gene expression assay in four different cell lines, including three pancreatic acinar cell lines (rat AR42J with or without dexamethasone-induced differentiation and mouse 266-6) and human embryonic kidney 293T cells. We found that most variants caused relatively small changes in promoter activity. Surprisingly, however, we observed significant variations in the effects of the promoter variants in the different cell lines. Only four variants exhibited consistently reduced promoter activity in all acinar cell lines, confirming previous reports that variants c.-108G>T, c.-142T>C, and c.-147A>G are risk factors for chronic pancreatitis and identifying c.-52G>T as a novel risk variant. In contrast, variant c.-215G>A, which is linked with the disease-associated splice-site mutation c.194 + 2T>C, caused increased promoter activity, which may mitigate the overall effect of the pathogenic haplotype. Our study lends further support to the notion that sequence evaluation of the SPINK1 promoter region in patients with chronic pancreatitis is justified as part of the etiological investigation. Copyright © 2015 the American Physiological Society.

  13. Mouse ribosomal RNA genes contain multiple differentially regulated variants.

    Directory of Open Access Journals (Sweden)

    Hung Tseng

    2008-03-01

    Full Text Available Previous cytogenetic studies suggest that various rDNA chromosomal loci are not equally active in different cell types. Consistent with this variability, rDNA polymorphism is well documented in human and mouse. However, attempts to identify molecularly rDNA variant types, which are regulated individually (i.e., independent of other rDNA variants and tissue-specifically, have not been successful. We report here the molecular cloning and characterization of seven mouse rDNA variants (v-rDNA. The identification of these v-rDNAs was based on restriction fragment length polymorphisms (RFLPs, which are conserved among individuals and mouse strains. The total copy number of the identified variants is less than 100 and the copy number of each individual variant ranges from 4 to 15. Sequence analysis of the cloned v-rDNA identified variant-specific single nucleotide polymorphisms (SNPs in the transcribed region. These SNPs were used to develop a set of variant-specific PCR assays, which permitted analysis of the v-rDNAs' expression profiles in various tissues. These profiles show that three v-rDNAs are expressed in all tissues (constitutively active, two are expressed in some tissues (selectively active, and two are not expressed (silent. These expression profiles were observed in six individuals from three mouse strains, suggesting the pattern is not randomly determined. Thus, the mouse rDNA array likely consists of genetically distinct variants, and some are regulated tissue-specifically. Our results provide the first molecular evidence for cell-type-specific regulation of a subset of rDNA.

  14. Identifying structural variants using linked-read sequencing data.

    Science.gov (United States)

    Elyanow, Rebecca; Wu, Hsin-Ta; Raphael, Benjamin J

    2017-11-03

    Structural variation, including large deletions, duplications, inversions, translocations, and other rearrangements, is common in human and cancer genomes. A number of methods have been developed to identify structural variants from Illumina short-read sequencing data. However, reliable identification of structural variants remains challenging because many variants have breakpoints in repetitive regions of the genome and thus are difficult to identify with short reads. The recently developed linked-read sequencing technology from 10X Genomics combines a novel barcoding strategy with Illumina sequencing. This technology labels all reads that originate from a small number (~5-10) DNA molecules ~50Kbp in length with the same molecular barcode. These barcoded reads contain long-range sequence information that is advantageous for identification of structural variants. We present Novel Adjacency Identification with Barcoded Reads (NAIBR), an algorithm to identify structural variants in linked-read sequencing data. NAIBR predicts novel adjacencies in a individual genome resulting from structural variants using a probabilistic model that combines multiple signals in barcoded reads. We show that NAIBR outperforms several existing methods for structural variant identification - including two recent methods that also analyze linked-reads - on simulated sequencing data and 10X whole-genome sequencing data from the NA12878 human genome and the HCC1954 breast cancer cell line. Several of the novel somatic structural variants identified in HCC1954 overlap known cancer genes. Software is available at compbio.cs.brown.edu/software. braphael@princeton.edu. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  15. [Approach to diagnosis and management of myeloproliferative neoplasm variants].

    Science.gov (United States)

    Mitsumori, Toru; Kirito, Keita

    2015-08-01

    Myeloproliferative neoplasm (MPN) variants are defined as relatively uncommon myeloid neoplasms which do not meet the criteria for either classical MPN or myelodysplastic syndrome. Due to the lack of specific markers, it has been challenging to accurately diagnose these malignant diseases. Recent studies have revealed new genetic abnormalities in MPN variants. These research advances are anticipated to open new approaches to not only achieving accurate diagnosis but also novel therapeutic options for these diseases.

  16. Electrophoretic variants of blood proteins in japanese, 5

    International Nuclear Information System (INIS)

    Fujita, Mikio; Satoh, Chiyoko; Asakawa, Jun-ichi; Nagahata, Yuko; Tanaka, Yoshiko; Hazama, Ryuji; Goriki, Kazuaki.

    1985-08-01

    The plasma ceruloplasmin (CP) of 22,367 children of atomic bomb survivors in Hiroshima and Nagasaki was examined for variants by electrophoresis. The sample was composed of 14,964 unrelated children and 7,403 siblings of the unrelated persons. A total of seven types of electrophoretic variants were detected; four migrating anodally and three cathodally to the normal B band. We have reported two of these variants, CP A sub(NG1) and CP C sub(NG1), previously but the other five, CP A sub(NG2), CP A sub(HR1), CP A sub(HR2), CP C sub(HR1), and CP C sub(HR2), are newly identified. The allelic frequency of CP*CNG1 was 0.00916, so that the variant is considered to be a polymorphic allele. Homozygosity for the CP*CNG1 allele was detected in five individuals. This is the first report of a homozygous phenotype for a CP variant in a Japanese population. Family study of the new five variants all demonstrated patterns of codominant inheritance. (author)

  17. [Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

    Science.gov (United States)

    Romero-Sánchez, Consuelo; Gómez Gutiérrez, Alberto; Duarte, Yurani; Amazo, Constanza; Manosalva, Clara; Chila M, Lorena; Casas-Gómez, María Consuelo; Briceño Balcázar, Ignacio

    2015-10-01

    Oxygen transport is altered in hemoglobinopathies. To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.

  18. Prebiotic Competition between Information Variants, With Low Error Catastrophe Risks

    Directory of Open Access Journals (Sweden)

    Radu Popa

    2015-07-01

    Full Text Available During competition for resources in primitive networks increased fitness of an information variant does not necessarily equate with successful elimination of its competitors. If variability is added fast to a system, speedy replacement of pre-existing and less-efficient forms of order is required as novel information variants arrive. Otherwise, the information capacity of the system fills up with information variants (an effect referred as “error catastrophe”. As the cost for managing the system’s exceeding complexity increases, the correlation between performance capabilities of information variants and their competitive success decreases, and evolution of such systems toward increased efficiency slows down. This impasse impedes the understanding of evolution in prebiotic networks. We used the simulation platform Biotic Abstract Dual Automata (BiADA to analyze how information variants compete in a resource-limited space. We analyzed the effect of energy-related features (differences in autocatalytic efficiency, energy cost of order, energy availability, transformation rates and stability of order on this competition. We discuss circumstances and controllers allowing primitive networks acquire novel information with minimal “error catastrophe” risks. We present a primitive mechanism for maximization of energy flux in dynamic networks. This work helps evaluate controllers of evolution in prebiotic networks and other systems where information variants compete.

  19. Cuento: El último viernes de una guerra

    Directory of Open Access Journals (Sweden)

    Policarpo Varón

    1969-03-01

    Full Text Available La tarde en que Rosario Figueroa vda. de Rengifo murió, su vieja casa se llenó de gente falsamente condolida. Alguien recordó que la viuda formaba parte de algo que era como una institución. Al entierro la acompañaron no más de diez personas. Dos hijos varones con sus mujeres, una hija única con su marido, tres o cuatro nietos y un viejo que trabajosamente anduvo detrás del cortejo gesticulando y hablando solo y deteniéndose a veces para mirar algo a su espalda y limpiarse las lágrimas y el sudor de la cara y el cuello con un pañuelo floriado.

  20. Promocionar una franquicia española

    Directory of Open Access Journals (Sweden)

    Laura Pérez Sánchez

    2015-10-01

    Full Text Available Experiencia práctica dirigida a alumnos de niveles B1-B2 en la materia Español para los Negocios en la Universitat de València con una duración de 3 horas. El principal objetivo es que los alumnos aprendan a promocionar una franquicia española y repasar contenidos funcionales, gramaticales y culturales. Además, llevar al aula realias como material aplicable, el aprendizaje cooperativo y las diferentes agrupaciones formales e informales dependiendo de los roles asignados, el aprendizaje basado en proyectos (ABP de la promoción de la franquicia, el desarrollo de las Inteligencias Múltiples y diferentes tipos de evaluación: autoevaluación, coevaluación y heteroevaluación.

  1. Para tener entre manos una revista

    Directory of Open Access Journals (Sweden)

    Gabriel Giannone

    2017-12-01

    Full Text Available Consideramos importante rescatar el trabajo colectivo y acumulado que precede y sucede a la labor de intermediación académica que realiza una revista. Para ello recordamos una clásica frase prologal: el texto que usted tiene en sus manos. Con cierta ironía, porque quizás muy pocos de los lectores puedan tener entre manos y oler el papel impreso de Chasqui. Desde sus pantallas, sus tablets o sus teléfonos la intención es que se comprenda este número como un solo cuerpo. Y al mismo tiempo, como un esfuerzo colectivo. Alrededor de él están las propuestas, lecturas y análisis de cientos de autores, revisores externos y lectores.

  2. Estrategia organizacional: una propuesta de estudio

    Directory of Open Access Journals (Sweden)

    Ángela Lucía Noguera Hidalgo

    2014-01-01

    Full Text Available El concepto de estrategia en el contexto de las organizaciones empresariales es uno de los temas que genera gran interés en los asuntos del management. Sin embargo, la proposición de nuevos enfoques no ha aportado significativamente al avance en el estudio de este concepto. El estancamiento se hace evidente, razón por la cual el presente documento esboza una propuesta que reúne algunos de los retos para el estudio de la estrategia. En él se presenta una revisión que deja por sentados los posibles caminos a seguir, los cuales contribuyen a la perdurabilidad de las organizaciones.

  3. Voz, una nueva interfaz hombre- maquina

    Directory of Open Access Journals (Sweden)

    Jorge Augusto Jaramillo M.

    2015-05-01

    Full Text Available RESUMEN El siguiente escrito ha sido elaborado  con base en los documentos actuales en los esfuerzos hechos por diferentes personas y  entidades gubernamentales, en implementar sistemas que permitan incorporar el habla  humana en un computador, como una interface alternativa y más natural. Aquí se da un esbozo bastante global de lo que es esta interface, pues los estudios hechos al respecto van desde simples algoritmos para el análisis de las señales (determinación de las características implícitas en ellas hasta sistemas bastante complejos que desean establecer una comunicación continua con cualquier locutor.

  4. Una experiencia lexicográfica

    Directory of Open Access Journals (Sweden)

    José Aldemar Álvarez Valencia

    2006-01-01

    Full Text Available Las dinámicas actuales de las sociedades modernas y postmodernas hacen que haya una constante creación y flujo de unidades léxicas cuyo origen se hace cada vez más difícil de identificar. Este documento se propone reportar una experiencia investigativa en el área de la lexicografía que se llevó a cabo en algunos pueblos de la región de Cundinamarca. A través de grabaciones de audio de conversaciones informales, entrevistas y cuestionarios se buscó elaborar un glosario de naturaleza dialectal. Las conclusiones indican que debido a la movilidad de los habitantes de la ciudad de Bogotá hacia los pueblos de Cundinamarca y viceversa, es difuso determinar un vocabulario específico.

  5. en una especie mexicana de serpiente

    Directory of Open Access Journals (Sweden)

    Javier Manjarrez

    2005-01-01

    Full Text Available Este ensayo trata los determinantes de la dieta en serpientes y en particular se discute un fenómeno único entre las 29 especies del género Thamnophis: la ingestión de acociles por T. melanogaster como posible invasión del género dentro de un nicho alimentario nuevo. Se plantea la oportunidad de estudiar aspectos del proceso de entrada como la microevolución de la conducta y la morfología de la dentición y cráneo asociada a la incorporación de una nueva presa en la dieta. Finalmente se discute la posibilidad de la acocilofagia como un carácter conductual ancestral que ahora sólo permanece como una conducta homóloga.

  6. Oxitocina: nuevas perspectivas para una droga antigua

    Directory of Open Access Journals (Sweden)

    Steven L. CLARK

    2010-12-01

    Full Text Available La oxitocina es el medicamento más comúnmente asociada con la prevención de complicaciones perinatales y recientemente fue incluida por el Instituto para la Administración Medicamentosa Segura (Institute for Safe Medication Practices - ISMP en una pequeña lista de medicamentos “con alto grado de riesgos”, lo que puede “necesitar salvaguardas especiales para reducir el riesgo de error”. Las recomendaciones actuales para administrar este medicamento son vagas en relación a la indicación, tiempo de uso, dosis y el monitoreo de los efectos maternos y fetales. Una revisión de los datos clínicos y farmacológicos disponibles sugiere que las orientaciones específicas y basadas en evidencias para administrar oxitocina durante el parto puede derivarse de datos disponibles. Si implementadas, estas prácticas pueden reducir la probabilidad de daños al paciente. Esto sugiere el foco de las orientaciones para la administración electiva limitada de oxitocina, considerar estrategias que disminuyan la necesidad de usar oxitocina, confiar en terapéuticas de bajas dosis de oxitocina, la adhesión a definiciones semicuantitativas específicas sobre parto adecuado e inadecuado, y la aceptación de que, una vez que la actividad uterina adecuada sea alcanzada, es generalmente preferible esperar más tiempo que aumentar la infusión de oxitocina. El uso de protocolos conservadores y específicos para monitorear los efectos de la oxitocina en la madre y en el bebé tiende no sólo a aumentar los resultados, mas también a reducir los conflictos entre miembros del equipo obstétrico. Implementar estas orientaciones parece ser apropiada en una cultura cada vez más focalizada en la seguridad del paciente.

  7. Hacia una nueva Biología

    Directory of Open Access Journals (Sweden)

    Sandín, Máximo

    2002-05-01

    Full Text Available Not available

    «La victoria del darwinismo ha sido tan completa que es un shock darse cuenta de cuan vacía es realmente la visión darwiniana de la vida». Esta rotunda frase no parece significar solamente la manifestación de una opinión personal. Pertenece a un editorial publicado en Nature y fïrmado por Henry Gee, uno de sus comentaristas sobre evolución. El motivo de que una revista científica de las más prestigiosas (que se pueden considerar como las mantenedoras de la ortodoxia, haga suyo ese comentario es que las investigaciones más recientes (especialmente en el campo de la embriogénesis han revelado unos fenómenos que han puesto de manifiesto su absoluta incompatibilidad con la teoría darwinista de la evolución. Las consecuencias de esto son obvias, y las precisa otro editorialista de Nature, Philip Ball, en un comentario sobre la secuenciación del Genoma humano: «Los biólogos van a tener que construir una nueva Biología». Tenemos por delante un duro y largo trabajo científico por realizar, pero también tenemos una tarea previa: depurar la Biología de la, tan arraigada, terminología darwinista, cargada de conceptos y prejuicios deformadores de los fenómenos biológicos.

  8. Sobre una Rodoficea parasita de Gelidiaceas

    OpenAIRE

    Seoane Camba, Juan Antonio

    1982-01-01

    En este trabajo se hace un estudio de una Rodofícea parásita, encontrada sobre Gelidium cantabricum Seoane-Camba y Gelidium sesquipedale (Clemente) Thuret. Por sus características generales atribuímos esta planta al género Gelidiocolax. descrito por Gardner en 1927 para un parásito de Gelidium pulchrum Gardner de las costas americanas del Pacífico...

  9. Sardegna chiama Friuli: storia di una cooperazione

    Directory of Open Access Journals (Sweden)

    Sandra Bianchi

    2001-01-01

    Full Text Available Un progetto sperimentale, attuato nella scuola dell'obbligo, in cui l'esperienza di precedenti corsi di formazione a distanza da parte delle due insegnanti coordinatrici del lavoro e l'organizzazione di una virtual classroom si sono coniugate nella realizzazione di "Gli Eroi Dimenticati" e "La Meglio Gioventu'", iniziative prodotte all'interno del piu' ampio progetto di cooperazione telematica "Sardegna Chiama Friuli".

  10. Factores claves para iniciar una empresa

    Directory of Open Access Journals (Sweden)

    Irenarco Rueda Reyna

    2015-04-01

    Full Text Available RESUMEN El artículo presenta en forma esquemática los aspectos relevantes para la conformación de una empresa,  desde la planeación acertada, el mercado, los medios de producción,  personal y financiamiento. Resalta asimismo la importancia de las clasificaciones y características que debe tener el indicador  de negocios.

  11. Thermodynamic, Anticoagulant, and Antiproliferative Properties of Thrombin Binding Aptamer Containing Novel UNA Derivative

    DEFF Research Database (Denmark)

    Kotkowiak, Weronika; Lisowiec-Wachnicka, Jolanta; Grynda, Jakub

    2018-01-01

    Thrombin is a serine protease that plays a crucial role in hemostasis, fibrinolysis, cell proliferation, and migration. Thrombin binding aptamer (TBA) is able to inhibit the activity of thrombin molecule via binding to its exosite I. This 15-nt DNA oligonucleotide forms an intramolecular, antipar......Thrombin is a serine protease that plays a crucial role in hemostasis, fibrinolysis, cell proliferation, and migration. Thrombin binding aptamer (TBA) is able to inhibit the activity of thrombin molecule via binding to its exosite I. This 15-nt DNA oligonucleotide forms an intramolecular......, antiparallel G-quadruplex structure with a chair-like conformation. In this paper, we report on our investigations on the influence of certain modified nucleotide residues on thermodynamic stability, folding topology, and biological properties of TBA variants. In particular, the effect of single incorporation......-quadruplex thermodynamic and biological stability, and that the effect is strongly position dependent. Interestingly, TBA variants containing the modified nucleotide residues are characterized by unchanged folding topology. Thrombin time assay revealed that incorporation of certain UNA residues may improve G...

  12. The Woodlands: Una forma diferente de gobernar

    Directory of Open Access Journals (Sweden)

    Raquel Insa-Ciriza

    2010-01-01

    Unidos de ciudad gobernada por asociaciones privadas. Estas asociaciones, representadas por un Consejo de Administración, proveen la mayoría de los servicios públicos a los ciudadanos. En este artículo se muestra lo que llamo «complicidad ciudadana» basada en lo que el Nuevo Servicio Público define como gobierno basado en la comunidad. Ellos no están reinventando ninguna clase de gobierno, lo que están haciendo es crear una nueva forma de gobierno en la que los ciudadanos prefieren tomar el mando que servir. El estudio del caso que muestro nos ayuda a entender cómo una mayor participación de los ciudadanos en las tareas de la administración local puede hacer disminuir visiblemente el poder del promotor en el desarrollo de una Nueva Ciudad. Esta complicidad ciudadana se traduce en términos de implicación de los miembros de la comunidad en el crecimiento y en el Gobierno de la ciudad. Clasificación JEL: H1, H11, H70.

  13. Christine Angot: una hetero-homosexual incestuosa

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    María José Palma Borrego

    2008-01-01

    Full Text Available El proyecto literario de Christine Angot en L’inceste (1999 es el de desvelar no su historia incestuosa –ella misma afirma que su libro no es una autobiografía– sino el hacer visible lo más reprimido, lo más oculto y a la vez lo más originario de nuestra Cultura: el incesto con la madre. Un incesto que puede ser real o imaginario, y que el trabajo de escritura desvela y configura sus territorios que van desde la fusión con la madre, característica de toda situación preedípica, hasta una relación homosexual real con su doble narcisista, pasando por el deseo incestuoso por su hija. Mundo sin castración en donde todo puede ser posible, en ese juego de “ser” y “no-ser”, y en donde la temática del incesto está representada en el texto por una espacialidad vertical, de arriba abajo, generacional, madre/hija-Christine-Léonore, y horizontal, Christine-Marie Christine.

  14. Una imatge val per mil paraules

    Directory of Open Access Journals (Sweden)

    Jaume Cabré

    1999-11-01

    Full Text Available Una vegada hi havia un videoclub ple de pel·lícules i a l'entrada hi havia un rètol lluminós molt bonic que deia el lema d'aquesta casa, que és una imatge val per mil paraules. I vet aquí un dia que la clientela ja se n'havia anat, però encara no havien tancat els llums, van entrar al videoclub dues rates, l'Amàlia i l'Amèlia. I van dir: "Què fem avui?" Aleshores l'Amèlia se'n va anar de seguida cap al racó de la sèrie B i va agafar una pel·lícula poc coneguda, mentre que l'Amàlia va agafar Mort a Venècia. Llavors la va començar a rosegar i l'Amèlia li va dir: "Què, què te'n sembla?", i l'Amàlia li va contestar: "Mmm... Em va agradar més la novel·la."

  15. Computadores moleculares: una tecnología

    Directory of Open Access Journals (Sweden)

    Jorge Eduardo Ortiz Triviño

    1999-04-01

    Full Text Available En este artículo se explican algunos detalles básicos para la realización de computadores moleculares basados en ADN; describe el método general para realizar programas en un computador molecular. Se concluye, que la labor de construcción e implementación de esos computadores no es tarea exclusiva del Ingeniero de sistemas sino, y con una participación importante, de profesionales en genética, medicina, biología y ciencias relacionadas. De otro lado, aunque es una tecnología que se encuentra en su primera infancia, puede constituirse en una buena alternativa en los próximos años, si se tiene en cuenta que apoyaría en la solución de problemas, en distintas áreas, cuya solución mediante computación electrónica convencional pueda ser difícil, sino imposible.

  16. Una diferencia inquietante: diario de un aprendiz..

    Directory of Open Access Journals (Sweden)

    Fernando BÁRCENA ORBE

    2009-11-01

    Full Text Available La comunicación afectiva con la persona discapacitada —como social y pedagógicamente se ha convenido en denominar— introduce un tipo de relación asentada en un principio de diferencia. Sin embargo, esta diferencia no es posible pensarla bajo un marco teórico que pretendiese dejar resueltas todas las contradicciones que semejante relación de alteridad implica. Pues se trata de un acontecimiento cargado de suficientes consecuencias en todos los aspectos como para requerir una reflexión narrativa en vez de un frío análisis conceptual. El presente artículo no ha podido ser escrito, por tanto, bajo el régimen de una escritura científica, pero tampoco se trata de un testimonio personal. Procurando evitar las posibles arrogancias derivadas de ambos planteamientos, lo que aquí se presenta es el diario de un aprendiz, de alguien que en su trato diario con la «discapacidad» ha ido descubriendo la singularidad de las emociones del otro y ha tenido que transformar la relación misma en un lenguaje que permitiese habitar la intimidad de una relación inquietante.

  17. Psychosis in behavioral variant frontotemporal dementia

    Directory of Open Access Journals (Sweden)

    Gossink FT

    2017-04-01

    Full Text Available Flora T Gossink,1,2 Everard GB Vijverberg,2,3 Welmoed Krudop,2 Philip Scheltens,2 Max L Stek,1 Yolande AL Pijnenburg,1,2 Annemiek Dols1,2 1Department of Old Age Psychiatry, GGZinGeest, 2Alzheimer Center & Department of Neurology, VU University Medical Center, Amsterdam, 3Department of Neurology, HagaZiekenhuis, The Hague, the Netherlands Background: Dementia is generally characterized by cognitive impairment that can be accompanied by psychotic symptoms; for example, visual hallucinations are a core feature of dementia with Lewy bodies, and delusions are often seen in Alzheimer’s disease. However, for behavioral variant of frontotemporal dementia (bvFTD, studies on the broad spectrum of psychotic symptoms are still lacking. The aim of this study was to systematically and prospectively subtype the wide spectrum of psychotic symptoms in probable and definite bvFTD.Methods: In this study, a commonly used and validated clinical scale that quantifies the broad spectrum of psychotic symptoms (Positive and Negative Symptom Scale was used in patients with probable and definite bvFTD (n=22 and with a primary psychiatric disorder (n=35 in a late-onset frontal lobe cohort. Median symptom duration was 2.8 years, and the patients were prospectively followed for 2 years.Results: In total, 22.7% of bvFTD patients suffered from delusions, hallucinatory behavior, and suspiciousness, although the majority of the patients exhibited negative psychotic symptoms such as social and emotional withdrawal and blunted affect (95.5% and formal thought disorders (81.8%. “Difficulty in abstract thinking” and “stereotypical thinking” (formal thought disorders differentiated bvFTD from psychiatric disorders. The combined predictors difficulty in abstract thinking, stereotypical thinking, “anxiety”, “guilt feelings,” and “tension” explained 75.4% of variance in the diagnosis of bvFTD versus psychiatric diagnoses (P<0.001.Conclusion: Delusions

  18. Hacia una definición de la medida

    OpenAIRE

    Parot, Jean Jacques

    2012-01-01

    Hacia una definición de la medida A. Primera situación Un granjero va al mercado para vender a) Una gallina (20 pesos) b) Un bulto de naranjas (45 pesos) c) Un pate (38 pesos) d) Una docena de huevos (12 pesos)

  19. Crisis vital desde una perspectiva de género

    OpenAIRE

    Castro, Eva; Flores López, Olga

    2004-01-01

    A continuación se presenta el caso de una mujer de 55 años que presenta una crisis de identidad, abordado desde una perspectiva de género y un modelo explicativo y terapéutico que incluye elementos del análisis transaccional y la terapia constructivista.

  20. Amino acid changes in disease-associated variants differ radically from variants observed in the 1000 genomes project dataset.

    Directory of Open Access Journals (Sweden)

    Tjaart A P de Beer

    Full Text Available The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutations in humans. Since the direction of mutation is known, the amino acid exchange matrix generated from the observed nucleotide variants is asymmetric and the mutabilities of the different amino acids are very different. These differences predominantly reflect preferences for nucleotide mutations in the DNA (especially the high mutation rate of the CpG dinucleotide, which makes arginine mutability very much higher than other amino acids rather than selection imposed by protein structure constraints, although there is evidence for the latter as well. The variants occur predominantly on the surface of proteins (82%, with a slight preference for sites which are more exposed and less well conserved than random. Mutations to functional residues occur about half as often as expected by chance. The disease-associated amino acid variant distributions in OMIM are radically different from those expected on the basis of the 1000 Genomes dataset. The disease-associated variants preferentially occur in more conserved sites, compared to 1000 Genomes mutations. Many of the amino acid exchange profiles appear to exhibit an anti-correlation, with common exchanges in one dataset being rare in the other. Disease-associated variants exhibit more extreme differences in amino acid size and hydrophobicity. More modelling of the mutational processes at the nucleotide level is needed, but these observations should contribute to an improved prediction of the effects of specific variants in humans.

  1. Condiciones de posibilidad para una justicia global

    Directory of Open Access Journals (Sweden)

    Pereira, Gustavo

    2004-06-01

    Full Text Available Recognition, as a constitutive part of subjectivity, is a basic need for people as well as for States. The terms of international relationships imposed by a great number of international credit and commerce institutions contradict and undermine such recognition, by means of policies that result in segregation and poverty in the poorest countries. Breaking such logic seems to be the way to enable the existence of conditions of global justice based on terms of reciprocal recognition. A prudential argument is the first step in this process; mid and long-term benefit would be the only rational motivation for international institutions to enable such an openness that would ensure reciprocal recognition. However, this argument is not sufficient, and the objective of a radical inclusion affecting all regions of the planet requires a moral argument based on the idea of equal dignity, inherent to every person. Global justice and its counterpart, local justice, will only be possible through the combination of these two arguments, which would make the existence of a logic of reciprocal recognition possible, thus enabling justice.

    El reconocimiento, en tanto que constitutivo de la subjetividad, es una necesidad básica tanto de las personas como de los Estados. Los términos de relación internacional impuestos por buena parte de los organismos internacionales de crédito y comercio niegan y socavan este reconocimiento a través de políticas que generan exclusión y pobreza en los países más pobres. La ruptura de esta lógica se presenta como un camino que posibilita el surgimiento de condiciones de justicia global basadas en términos de reconocimiento recíproco. Un argumento prudencial oficia como primer paso en este proceso, el beneficio a medio y largo plazo sería la motivación racional para que los organismos internacionales generasen una apertura que permitiese asegurar el reconocimiento recíproco. Sin embargo, este argumento no es

  2. Cellulase variants with improved expression, activity and stability, and use thereof

    Science.gov (United States)

    Aehle, Wolfgang; Bott, Richard R; Bower, Benjamin; Caspi, Jonathan; Estell, David A; Goedegebuur, Frits; Hommes, Ronaldus W.J.; Kaper, Thijs; Kelemen, Bradley; Kralj, Slavko; Van Lieshout, Johan; Nikolaev, Igor; Van Stigt Thans, Sander; Wallace, Louise; Vogtentanz, Gudrun; Sandgren, Mats

    2014-03-25

    The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having improved expression, activity and/or stability. Also described are nucleic acids encoding the cellulase variants, compositions comprising the cellulase variants, and methods of use thereof.

  3. Cellulase variants with improved expression, activity and stability, and use thereof

    Energy Technology Data Exchange (ETDEWEB)

    Aehle, Wolfgang; Bott, Richard R.; Bower, Benjamin S.; Caspi, Jonathan; Goedegebuur, Frits; Hommes, Ronaldus Wilhelmus Joannes; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Van Lieshout, Johannes Franciscus Thomas; Nikolaev, Igor; Wallace, Louise; Van Stigt Thans, Sander; Vogtentanz, Gudrun; Sandgren, Mats

    2016-12-20

    The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having improved expression, activity and/or stability. Also described are nucleic acids encoding the cellulase variants, compositions comprising the cellulase variants, and methods of use thereof.

  4. HABP2 G534E Variant in Papillary Thyroid Carcinoma.

    Directory of Open Access Journals (Sweden)

    Jerneja Tomsic

    Full Text Available The main nonmedullary form of thyroid cancer is papillary thyroid carcinoma (PTC that accounts for 80-90% of all thyroid malignancies. Only 3-10% of PTC patients have a positive family history of PTC yet the familiality is one of the highest of all cancers as measured by case control studies. A handful of genes have been implicated accounting for a small fraction of this genetic predisposition. It was therefore of considerable interest that a mutation in the HABP2 gene was recently implicated in familial PTC. The present work was undertaken to examine the extent of HABP2 variant involvement in PTC. The HABP2 G534E variant (rs7080536 was genotyped in blood DNA from 179 PTC families (one affected individual per family, 1160 sporadic PTC cases and 1395 controls. RNA expression of HABP2 was tested by qPCR in RNA extracted from tumor and normal thyroid tissue from individuals that are homozygous wild-type or heterozygous for the variant. The variant was found to be present in 6.1% familial cases, 8.0% sporadic cases (2 individuals were homozygous for the variant and 8.7% controls. The variant did not segregate with PTC in one large and 6 smaller families in which it occurred. In keeping with data from the literature and databases the expression of HABP2 was highest in the liver, much lower in 3 other tested tissues (breast, kidney, brain but not found in thyroid. Given these results showing lack of any involvement we suggest that the putative role of variant HABP2 in PTC should be carefully scrutinized.

  5. Functionally significant, rare transcription factor variants in tetralogy of Fallot.

    Directory of Open Access Journals (Sweden)

    Ana Töpf

    Full Text Available Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF.We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1 in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

  6. 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.

  7. Biochemical characterization of the GM2 gangliosidosis B1 variant

    Directory of Open Access Journals (Sweden)

    Tutor J.C.

    2004-01-01

    Full Text Available The deficiency of the A isoenzyme of ß-hexosaminidase (Hex produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease has two variants with enzymological differences: the B variant consists of the absence of Hex A isoenzyme and the B1 variant produces an inactive Hex A isoenzyme for the hydrolysis of the GM2 ganglioside and synthetic substrates with negative charge. In contrast to the early childhood form of the B variant, the B1 variant appears at a later clinical stage (3 to 7 years of age with neurodegenerative symptoms leading to the death of the patient in the second decade of life. The most frequent mutation responsible for the GM2 gangliosidosis B1 variant is R178H, which has a widespread geographic and ethnic distribution. The highest incidence has been described in Portugal, which has been suggested as the point of origin of this mutation. Biochemical characterization of this lysosomal disease is carried out using negatively charged synthetic alpha subunit-specific sulfated substrates, since Hex A isoenzyme heat-inactivation assays are not applicable. However, the determination of the apparent activation energy of Hex using the neutral substrate 3,3'-dichlorophenolsulfonphthaleinyl N-acetyl-ß-D-glucosaminide, may offer a valid alternative. The presence of an alpha subunit in the alphaß heterodimer Hex A means that its activation energy (41.8 kJ/mol is significantly lower than that of the ßß homodimer Hex B (75.1 kJ/mol; however, as mutation inactivates the alpha subunit, the Hex A of the B1 variant presents an activation energy that is similar to that of the Hex B isoenzyme.

  8. Genomic constitution of an H-2:Tla variant leukemia.

    Science.gov (United States)

    Shen, F W; Chaganti, R S; Doucette, L A; Litman, G W; Steinmetz, M; Hood, L; Boyse, E A

    1984-10-01

    A TL+ leukemia of a (B6 X A)F1 hybrid mouse (H-2b/H-2a) was previously subjected to immunoselection against H-2a by passage in (B6 X A.SW)F1 mice (H-2b/H-2s). A variant leukemia line was obtained that serologically lacked not only the H-2a phenotype but also the TL phenotype determined by the linked cis Tlaa allele of strain A. The H-2b phenotype and the TL phenotype of the Tlab allele of the B6 strain, which is expressed only by leukemia cells, were retained by the variant. Southern blotting with an H-2 cDNA probe that identifies restriction fragment polymorphisms distinguishing alleles of the H-2 and Tla regions of the B6 and A strains indicates that both the H-2a and Tlaa alleles are missing from the genome of this H-2a:Tlaa negative variant. Since the variant has two apparently unaltered chromosomes 17, where the H-2:Tla complex is situated, and since the intensity of bands in Southern blotting is suggestive of H-2b homozygosity, it is considered that loss of the H-2a:Tlaa haplotype by the variant was accompanied by duplication of the H-2b:Tlab haplotype. The implied change from heterozygosity to homozygosity that the variant has undergone with respect to H-2:Tla was not paralleled by a similar change at the three other loci tested, since the variant retained heterozygosity for Pep-3 (chromosome 1), Gpi-1 (chromosome 7), and Es-1 (chromosome 8).

  9. Diverse Functional Properties of Wilson Disease ATP7B Variants

    Science.gov (United States)

    Huster, Dominik; Kühne, Angelika; Bhattacharjee, Ashima; Raines, Lily; Jantsch, Vanessa; Noe, Johannes; Schirrmeister, Wiebke; Sommerer, Ines; Sabri, Osama; Berr, Frieder; Mössner, Joachim; Stieger, Bruno; Caca, Karel; Lutsenko, Svetlana

    2012-01-01

    BACKGROUND & AIMS Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells. Protein function was analyzed by measuring catalytic activity and copper (64Cu) transport into vesicles. We studied intracellular localization of variants of ATP7B that had measurable transport activities and were tagged with green fluorescent protein in mammalian cells using confocal laser scanning microscopy. RESULTS Properties of ATP7B variants with pathogenic amino-acid substitution varied greatly even if substitutions were in the same functional domain. Some variants had complete loss of catalytic and transport activity, whereas others lost transport activity but retained phosphor-intermediate formation or had partial losses of activity. In mammalian cells, transport-competent variants differed in stability and subcellular localization. CONCLUSIONS Variants in ATP7B associated with Wilson disease disrupt the protein’s transport activity, result in its mislocalization, and reduce its stability. Single assays are insufficient to accurately predict the effects of ATP7B variants the function of its product and development of Wilson disease. These findings will contribute to our understanding of genotype–phenotype correlation and mechanisms of disease pathogenesis. PMID:22240481

  10. Evaluación del tratamiento anaerobio de las aguas residuales de una comunidad universitaria

    Directory of Open Access Journals (Sweden)

    Sandra Crombet Grillet

    2016-01-01

    Full Text Available En las universidades cubanas más del 65 % de los estudiantes son becarios y se presta especial atención a la gestión de las aguas domésticas generadas en las comunidades y residencias universitarias. Este trabajo presenta la remoción de la materia orgánica en las aguas domésticas de la comunidad universitaria Antonio Maceo de la Universidad de Oriente empleando, a escala de laboratorio, dos sistemas: reactor UASB y laguna anaerobia. Los sistemas anaerobios evaluados, alcanzaron una remoción de la DQO superior al 70 % y una disminución de las bacterias coliformes totales desde 72x105 NMP/100 mL hasta 16 NMP/100 mL. La clarificación con alumbre mejora las características estéticas del efluente. Cualquiera de las variantes (UASB o laguna anaerobia pueden ser aplicadas para la remoción de la materia orgánica en las aguas domésticas de la comunidad universitaria.

  11. Variantes quirúrgicas para el tratamiento del linfedema primario de pene y escroto

    Directory of Open Access Journals (Sweden)

    Orestes Díaz Hernández

    2000-12-01

    Full Text Available Se presentan 2 variantes técnicas del tratamiento quirúrgico del linfedema primario de pene y escroto en 2 pacientes con características clínicas diferentes. Una de las técnicas quirúrgicas empleadas consistió en 2 incisiones laterales en las bolsas escrotales con resección del tejido linfedematoso y la otra con una incisión única en la bolsa y reimplantación de la base del pene con resección de todo el tejido linfedematoso. En ambos casos antes de intentar la resección del tejido linfedematoso se extrajeron de su lecho el cordón espermático y los testículos para facilitar la operación, minimizar el tiempo quirúrgico y producir menos complicaciones. La propia piel del cuello de la bolsa escrotal se emplea en su reconstrucción e incluso para acomodar los testículos. No se hizo necesario, con estas técnicas, realizar injerto libre ni pediculado de piel. Los pacientes recuperaron la capacidad funcional del pene, tuvieron mejoría estética y desapareció la angustia que esta enfermedad les ocasionabaTwo technical variants of the surgical treatment of primary penile and scrotal lymphoedema used in 2 patients with different clinical characteristics are presented. One of the surgical techniques used consisted in 2 lateral incisions in the scrotal bursae with resection of the lymphoedematous tissue and the other in a single incision in the bursa and reimplantation of the basis of the penis with resection of all the lymphoedematous tissue. In both cases, before attempting the resection of the lymphoedematous tissue the spermatic cord and the testes were removed from their bed to facilitate the operation, to reduce the surgical time and to cause less complications. The own skin of the neck of the scrotal bursa is used in its reconstruction and even to accomodate the testes. By using these techniques, it was not necessary to make a free or pediculate skin graft. Patients recovered the functional capacity of the penis, had an aesthetic

  12. Characterization of brush cells of the cerebellum treated by prolonged exposure of the sample to isopropyl alcohol variant of argentic impregnation

    OpenAIRE

    Reyes Graterol, Elbert Oberto; García Oduber, Sogeilys Milagro; Laguna Campos, Edgar José; Salas Méndez, Mario Javier

    2014-01-01

    Las células cepillo son neuronas glutamatérgicas de la capa granular en la corteza cerebelosa que constan de 3 (tres) o más subtipos, caracterizados por fenotipos químicamente distintos, propiedades intrínsecas para formar sinapsis y patrones de descarga particulares. Dichas células no fueron identificadas por métodos de impregnación argéntica hasta 1994, cuando Mugnaini realiza su descripción. En este trabajo presentamos una variante de impregnación argéntica, en el cual las muestras son sum...

  13. Una erótica del cuerpo narrado

    OpenAIRE

    Vigneron, Denis

    2013-01-01

    Este artículo estudia cómo Francisco Umbral, en una forma de autorretrato, propone una reflexión ontológica sobre su propio cuerpo y analiza los mecanismos literarios de una escritura del mismo basada en la erótica, entendiendo el erotismo en un sentido más creador que sexual. Con una escritura pulsional, al servicio de las manifestaciones del deseo, Mortal y rosa no es sólo el relato autobiográfico de una tragedia personal sino un estudio epistemológico de las alteraciones del cuerpo desde l...

  14. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

    Science.gov (United States)

    Schrader, Kasmintan A; Cheng, Donavan T; Joseph, Vijai; Prasad, Meera; Walsh, Michael; Zehir, Ahmet; Ni, Ai; Thomas, Tinu; Benayed, Ryma; Ashraf, Asad; Lincoln, Annie; Arcila, Maria; Stadler, Zsofia; Solit, David; Hyman, David M; Hyman, David; Zhang, Liying; Klimstra, David; Ladanyi, Marc; Offit, Kenneth; Berger, Michael; Robson, Mark

    2016-01-01

    Tumor genetic sequencing identifies potentially targetable genetic alterations with therapeutic implications. Analysis has concentrated on detecting tumor-specific variants, but recognition of germline variants may prove valuable as well. To estimate the burden of germline variants identified through routine clinical tumor sequencing. Patients with advanced cancer diagnoses eligible for studies of targeted agents at Memorial Sloan Kettering Cancer Center are offered tumor-normal sequencing with MSK-IMPACT, a 341-gene panel. We surveyed the germline variants seen in 187 overlapping genes with Mendelian disease associations in 1566 patients who had undergone tumor profiling between March and October 2014. The number of presumed pathogenic germline variants (PPGVs) and variants of uncertain significance per person in 187 genes associated with single-gene disorders and the proportions of individuals with PPGVs in clinically relevant gene subsets, in genes consistent with known tumor phenotypes, and in genes with evidence of second somatic hits in their tumors. The mean age of the 1566 patients was 58 years, and 54% were women. Presumed pathogenic germline variants in known Mendelian disease-associated genes were identified in 246 of 1566 patients (15.7%; 95% CI, 14.0%-17.6%), including 198 individuals with mutations in genes associated with cancer susceptibility. Germline findings in cancer susceptibility genes were concordant with the individual's cancer type in only 81 of 198 cases (40.9%; 95% CI, 34.3%-47.9%). In individuals with PPGVs retained in the tumor, somatic alteration of the other allele was seen in 39 of 182 cases (21.4%; 95% CI, 16.1%-28.0%), of which 13 cases did not show a known correlation of the germline mutation and a known syndrome. Mutations in non-cancer-related Mendelian disease genes were seen in 55 of 1566 cases (3.5%; 95% CI, 27.1%-45.4%). Almost every individual had more than 1 variant of uncertain significance (1565 of 1566 patients; 99

  15. Screening for common copy-number variants in cancer genes.

    Science.gov (United States)

    Tyson, Jess; Majerus, Tamsin M O; Walker, Susan; Armour, John A L

    2010-12-01

    For most cases of colorectal cancer that arise without a family history of the disease, it is proposed that an appreciable heritable component of predisposition is the result of contributions from many loci. Although progress has been made in identifying single nucleotide variants associated with colorectal cancer risk, the involvement of low-penetrance copy number variants is relatively unexplored. We have used multiplex amplifiable probe hybridization (MAPH) in a fourfold multiplex (QuadMAPH), positioned at an average resolution of one probe per 2 kb, to screen a total of 1.56 Mb of genomic DNA for copy number variants around the genes APC, AXIN1, BRCA1, BRCA2, CTNNB1, HRAS, MLH1, MSH2, and TP53. Two deletion events were detected, one upstream of MLH1 in a control individual and the other in APC in a colorectal cancer patient, but these do not seem to correspond to copy number polymorphisms with measurably high population frequencies. In summary, by means of our QuadMAPH assay, copy number measurement data were of sufficient resolution and accuracy to detect any copy number variants with high probability. However, this study has demonstrated a very low incidence of deletion and duplication variants within intronic and flanking regions of these nine genes, in both control individuals and colorectal cancer patients. Copyright © 2010 Elsevier Inc. All rights reserved.

  16. Functional significance of rare neuroligin 1 variants found in autism.

    Directory of Open Access Journals (Sweden)

    Moe Nakanishi

    2017-08-01

    Full Text Available Genetic mutations contribute to the etiology of autism spectrum disorder (ASD, a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3, a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional variants in NLGN3 and NLGN4 were found in ASD patients. Moreover, synaptopathies are now known to cause several neuropsychiatric disorders including ASD. In humans, NLGNs consist of five family members, and neuroligin1 (NLGN1 is a major component forming a complex on excitatory glutamatergic synapses. However, the significance of NLGN1 in neuropsychiatric disorders remains unknown. Here, we systematically examine five missense variants of NLGN1 that were detected in ASD patients, and show molecular and cellular alterations caused by these variants. We show that a novel NLGN1 Pro89Leu (P89L missense variant found in two ASD siblings leads to changes in cellular localization, protein degradation, and to the impairment of spine formation. Furthermore, we generated the knock-in P89L mice, and we show that the P89L heterozygote mice display abnormal social behavior, a core feature of ASD. These results, for the first time, implicate rare variants in NLGN1 as functionally significant and support that the NLGN synaptic pathway is of importance in the etiology of neuropsychiatric disorders.

  17. HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

    Science.gov (United States)

    den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; Greenblatt, Marc S; McGowan-Jordan, Jean; Roux, Anne-Francoise; Smith, Timothy; Antonarakis, Stylianos E; Taschner, Peter E M

    2016-06-01

    The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics critically depends on accurate and standardized description and sharing of the variants detected. The sequence variant nomenclature system proposed in 2000 by the Human Genome Variation Society has been widely adopted and has developed into an internationally accepted standard. The recommendations are currently commissioned through a Sequence Variant Description Working Group (SVD-WG) operating under the auspices of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO). Requests for modifications and extensions go through the SVD-WG following a standard procedure including a community consultation step. Version numbers are assigned to the nomenclature system to allow users to specify the version used in their variant descriptions. Here, we present the current recommendations, HGVS version 15.11, and briefly summarize the changes that were made since the 2000 publication. Most focus has been on removing inconsistencies and tightening definitions allowing automatic data processing. An extensive version of the recommendations is available online, at http://www.HGVS.org/varnomen. © 2016 WILEY PERIODICALS, INC.

  18. ABCA7 rare variants and Alzheimer disease risk.

    Science.gov (United States)

    Le Guennec, Kilan; Nicolas, Gaël; Quenez, Olivier; Charbonnier, Camille; Wallon, David; Bellenguez, Céline; Grenier-Boley, Benjamin; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-François; Amouyel, Philippe; Munter, Hans Markus; Bourque, Guillaume; Lathrop, Mark; Frebourg, Thierry; Redon, Richard; Letenneur, Luc; Dartigues, Jean-François; Pasquier, Florence; Rollin-Sillaire, Adeline; Génin, Emmanuelle; Lambert, Jean-Charles; Hannequin, Didier; Campion, Dominique

    2016-06-07

    To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3.40, 95% confidence interval [CI] 1.68-7.35, p = 0.0002). Performing a meta-analysis with previously published data, we found that in a combined sample of 1,256 patients and 1,347 controls from France and Belgium, the OR was 2.81 (95% CI 1.89-4.20, p = 3.60 × 10(-7)). These results confirm that ABCA7 LOF variants are enriched in patients with AD and extend this finding to predicted damaging missense variants. © 2016 American Academy of Neurology.

  19. Common genetic variants influence human subcortical brain structures.

    Science.gov (United States)

    Hibar, Derrek P; Stein, Jason L; Renteria, Miguel E; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S; Armstrong, Nicola J; Bernard, Manon; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brown, Andrew A; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Olde Loohuis, Loes M; Luciano, Michelle; Macare, Christine; Mather, Karen A; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Salami, Alireza; Sämann, Philipp G; Schmaal, Lianne; Schork, Andrew J; Shin, Jean; Strike, Lachlan T; Teumer, Alexander; van Donkelaar, Marjolein M J; van Eijk, Kristel R; Walters, Raymond K; Westlye, Lars T; Whelan, Christopher D; Winkler, Anderson M; Zwiers, Marcel P; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M H; Hartberg, Cecilie B; Haukvik, Unn K; Heister, Angelien J G A M; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C M; Lopez, Lorna M; Makkinje, Remco R R; Matarin, Mar; Naber, Marlies A M; McKay, D Reese; Needham, Margaret; Nugent, Allison C; Pütz, Benno; Royle, Natalie A; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S L; van Hulzen, Kimm J E; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A; Bastin, Mark E; Brodaty, Henry; Bulayeva, Kazima B; Carless, Melanie A; Cichon, Sven; Corvin, Aiden; Curran, Joanne E; Czisch, Michael; de Zubicaray, Greig I; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Fedko, Iryna O; Ferrucci, Luigi; Foroud, Tatiana M; Fox, Peter T; Fukunaga, Masaki; Gibbs, J Raphael; Göring, Harald H H; Green, Robert C; Guelfi, Sebastian; Hansell, Narelle K; Hartman, Catharina A; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G; Heslenfeld, Dirk J; Hoekstra, Pieter J; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Liu, Xinmin; Longo, Dan L; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W; Mostert, Jeanette C; Mühleisen, Thomas W; Nalls, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W T; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M Arfan; Martin, Nicholas G; Wright, Margaret J; Schumann, Gunter; Franke, Barbara; Thompson, Paul M; Medland, Sarah E

    2015-04-09

    The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

  20. Canine parvovirus: the worldwide occurrence of antigenic variants.

    Science.gov (United States)

    Miranda, Carla; Thompson, Gertrude

    2016-09-01

    The most important enteric virus infecting canids is canine parvovirus type 2 (CPV-2). CPV is the aetiologic agent of a contagious disease, mainly characterized by clinical gastroenteritis signs in younger dogs. CPV-2 emerged as a new virus in the late 1970s, which could infect domestic dogs, and became distributed in the global dog population within 2 years. A few years later, the virus's original type was replaced by a new genetic and antigenic variant, called CPV-2a. Around 1984 and 2000, virus variants with the single change to Asp or Glu in the VP2 residue 426 were detected (sometimes termed CPV-2b and -2c). The genetic and antigenic changes in the variants have also been correlated with changes in their host range; in particular, in the ability to replicate in cats and also host range differences in canine and other tissue culture cells. CPV-2 variants have been circulating among wild carnivores and have been well-documented in several countries around the world. Here, we have reviewed and summarized the current information about the worldwide distribution and evolution of CPV-2 variants since they emerged, as well as the host ranges they are associated with.

  1. [Specificities of the logopenic variant of primary progressive aphasia].

    Science.gov (United States)

    Magnin, E; Teichmann, M; Martinaud, O; Moreaud, O; Ryff, I; Belliard, S; Pariente, J; Moulin, T; Vandel, P; Démonet, J-F

    2015-01-01

    The logopenic variant of primary progressive aphasia is a syndrome with neuropsychological and linguistic specificities, including phonological loop impairment for which diagnosis is currently mainly based on the exclusion of the two other variants, semantic and nonfluent/agrammatic primary progressive aphasia. The syndrome may be underdiagnosed due (1) to mild language difficulties during the early stages of the disease or (2) to being mistaken for mild cognitive impairment or Alzheimer's disease when the evaluation of episodic memory is based on verbal material and (3) finally, it is not uncommon that the disorders are attributed to psychiatric co-morbidities such as, for example, anxiety. Moreover, compared to other variants of primary progressive aphasia, brain abnormalities are different. The left temporoparietal junction is initially affected. Neuropathology and biomarkers (cerebrospinal fluid, molecular amyloid nuclear imaging) frequently reveal Alzheimer's disease. Consequently this variant of primary progressive aphasia does not fall under the traditional concept of frontotemporal lobar degeneration. These distinctive features highlight the utility of correct diagnosis, classification, and use of biomarkers to show the neuropathological processes underlying logopenic primary progressive aphasia. The logopenic variant of primary progressive aphasia is a specific form of Alzheimer's disease frequently presenting a rapid decline; specific linguistic therapies are needed. Further investigation of this syndrome is needed to refine screening, improve diagnostic criteria and better understand the epidemiology and the biological mechanisms involved. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  2. Common genetic variants influence human subcortical brain structures

    Science.gov (United States)

    Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E.; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S.; Armstrong, Nicola J.; Bernard, Manon; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brown, Andrew A.; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L.; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Olde Loohuis, Loes M.; Luciano, Michelle; Macare, Christine; Mather, Karen A.; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rose, Emma J.; Salami, Alireza; Sämann, Philipp G.; Schmaal, Lianne; Schork, Andrew J.; Shin, Jean; Strike, Lachlan T.; Teumer, Alexander; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; Walters, Raymond K.; Westlye, Lars T.; Whelan, Christopher D.; Winkler, Anderson M.; Zwiers, Marcel P.; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M. H.; Hartberg, Cecilie B.; Haukvik, Unn K.; Heister, Angelien J. G. A. M.; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C. M.; Lopez, Lorna M.; Makkinje, Remco R. R.; Matarin, Mar; Naber, Marlies A. M.; McKay, D. Reese; Needham, Margaret; Nugent, Allison C.; Pütz, Benno; Royle, Natalie A.; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S. L.; van Hulzen, Kimm J. E.; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A.; Bastin, Mark E.; Brodaty, Henry; Bulayeva, Kazima B.; Carless, Melanie A.; Cichon, Sven; Corvin, Aiden; Curran, Joanne E.; Czisch, Michael; de Zubicaray, Greig I.; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D.; Erk, Susanne; Fedko, Iryna O.; Ferrucci, Luigi; Foroud, Tatiana M.; Fox, Peter T.; Fukunaga, Masaki; Gibbs, J. Raphael; Göring, Harald H. H.; Green, Robert C.; Guelfi, Sebastian; Hansell, Narelle K.; Hartman, Catharina A.; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G.; Heslenfeld, Dirk J.; Hoekstra, Pieter J.; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Liu, Xinmin; Longo, Dan L.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W.; Mostert, Jeanette C.; Mühleisen, Thomas W.; Nalls, Michael A.; Nichols, Thomas E.; Nilsson, Lars G.; Nöthen, Markus M.; Ohi, Kazutaka; Olvera, Rene L.; Perez-Iglesias, Rocio; Pike, G. Bruce; Potkin, Steven G.; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D.; Rujescu, Dan; Schnell, Knut; Schofield, Peter R.; Smith, Colin; Steen, Vidar M.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Turner, Jessica A.; Valdés Hernández, Maria C.; van ’t Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J. A.; van Tol, Marie-Jose; Veltman, Dick J.; Wassink, Thomas H.; Westman, Eric; Zielke, Ronald H.; Zonderman, Alan B.; Ashbrook, David G.; Hager, Reinmar; Lu, Lu; McMahon, Francis J.; Morris, Derek W.; Williams, Robert W.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Cahn, Wiepke; Calhoun, Vince D.; Cavalleri, Gianpiero L.; Crespo-Facorro, Benedicto; Dale, Anders M.; Davies, Gareth E.; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C.; Espeseth, Thomas; Gollub, Randy L.; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S.; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W. J. H.; Roffman, Joshua L.; Sisodiya, Sanjay M.; Smoller, Jordan W.; van Bokhoven, Hans; van Haren, Neeltje E. M.; Völzke, Henry; Walter, Henrik; Weiner, Michael W.; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A.; Blangero, John; Boomsma, Dorret I.; Brouwer, Rachel M.; Cannon, Dara M.; Cookson, Mark R.; de Geus, Eco J. C.; Deary, Ian J.; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E.; Francks, Clyde; Glahn, David C.; Grabe, Hans J.; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E.; Jönsson, Erik G.; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S.; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M.; Ophoff, Roel A.; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S.; Saykin, Andrew J.; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M.; Weale, Michael E.; Weinberger, Daniel R.; Adams, Hieab H. H.; Launer, Lenore J.; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L.; Becker, James T.; Yanek, Lisa; van der Lee, Sven J.; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N.; van Duijn, Cornelia M.; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C.; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M. Arfan; Martin, Nicholas G.; Wright, Margaret J.; Schumann, Gunter; Franke, Barbara; Thompson, Paul M.; Medland, Sarah E.

    2015-01-01

    The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability inhuman brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. PMID:25607358

  3. DSA analysis of the normal and variant hepatic arterial anatomy

    International Nuclear Information System (INIS)

    Lv Penghua; Wang Jie; Shi Haibing; Feng Yaoliang; Chen Huizhu; Chen Yuqin

    2005-01-01

    Objective: To observe and analyze the normal and variant hepatic arterial anatomy by DSA. Methods: One thousand and two hundreds patients with routine celiac and/or selective hepatic arteriography from November 1994 to March 2003 were retrospectively analyzed, some of them were further simultaneously undergone superior mesenteric arteriography, left gastric arteriography or inferior phrenic arteriography etc. Results: 873 (72.8%) patients had the standard hepatic arterial anatomy. 156(13.0%) patients had variant left hepatic arteries (LHAs), 120(10.0%) with variant right hepatic arteries (RHAs) and 21 (1.8%) of a variant anatomy involving both LHA and RHA. The common hepatic artery (CHA) of 1170 (97.5%) patients originated from the celiac artery. 92.0% proper hepatic artery (PHA) was the direct extension of CHA. The RHA was mainly (89.8%) derived from the PHA. There was some variation of the middle hepatic artery (MHA) with more than 62.2% arising from the LHA. The LHA was derived from the PHA (44.6%) or the RHA(30.2%) or other arteries (25.2%). Conclusions: The knowledge of normal and variant anatomy of hepatic vasculature by DSA may be very helpful for intervention therapy and hepatosurgery. (authors)

  4. La escuela inclusiva: una oportunidad para humanizarnos

    Directory of Open Access Journals (Sweden)

    Miguel López Melero

    2012-01-01

    Full Text Available En este artículo mis reflexiones las centro en el amor y la educación como fundamentos de la escuela inclusiva. Un amor sin adjetivos, basado en el respeto al otro como legítimo otro en la convivencia. Es un modo de vida que se inicia en la confianza desde la edad más temprana. Más aun, el amor es un acto de confianza. La confianza es el fundamento de nuestra convivencia. Los seres humanos nos enfermamos en un ambiente de desconfianza, manipulación e instrumentalización de las relaciones. La ausencia de amor nos deshumaniza. Vivimos en un mundo en el que se habla mucho del amor pero lo negamos, continuamente, en nuestros comportamientos y acciones. Vivimos inmersos en la cultura patriarcal. El amor, en dicha cultura, es considerado como un bien inalcanzable o, acaso, una ilusión o una esperanza. Sin embargo, debemos recuperar la vida matrística de la infancia, viviendo en el amor, amando. Es decir, respetando a las personas como legítimas personas en su diferencia, independientemente del hándicap, del género, de la etnia, religión o procedencia, en la convivencia. Sólo en el respeto y en el reconocimiento de las personas como personas radica el sentido de lo humano. Lo que constituye al ser humano como tal es la dimensión social y no lo genético. La genética es la condición inicial, es un punto de partida, no de llegada. Somos lo que somos gracias a las oportunidades que hemos tenido y no a los genes. Ahora bien, lo más humano del ser humano es desvivirse por otro ser humano y en este desvivir surge el valor ético de la educación. Por tanto, hablar de inclusión es hablar de justicia y, parece lógico, que para construir una sociedad justa sea necesario desarrollar modelos educativos equitativos que afronten con justicia los desequilibrios existentes en la misma. Para ello es imprescindible que los responsables de las políticas educativas, el profesorado y los investigadores contraigamos el compromiso moral de orientar el

  5. Aprender a innovar: una experiencia on line

    Directory of Open Access Journals (Sweden)

    Joaquín MORENO MARCHAL

    2014-11-01

    Full Text Available La creatividad y la innovación se han convertido en recursos clave en la denominada sociedad del conocimiento, que bien podría ser también llamada sociedad de la innovación. Pero innovar es una actividad compleja, que integra la aplicación de múltiples capacidades, el pensamiento divergente y convergente, la gestión de equipos humanos, la comunicación. Ahora bien, a innovar se puede, y se debe, aprender. Aprender a innovar es un reto y también una obligación para el conjunto del sistema educativo en todos sus niveles. Partiendo de estas consideraciones este trabajo expone una experiencia de aprendizaje de la creatividad y de la innovación a través de un curso totalmente on line basado en la plataforma MOODLE, en el marco del Programa de Formación Permanente de la Universidad de Cádiz. Se presenta un modelo del proceso de innovación, denominado CREALAB, de elaboración propia. Este modelo se ha utilizado como base del proceso de aprendizaje de la creatividad y de la innovación y en el diseño del curso, está organizado en torno a actividades y tiene un carácter iterativo y realimentado. Se presentan además el conjunto del diseño metodológico y los resultados obtenidos en las dos ediciones celebradas hasta el momento. El diseño del curso totalmente on line y los resultados alcanzados permiten estimar un alto potencial de aplicación, tanto a nivel personal como a nivel organizacional.

  6. Per una lettura laica della teologia medievale

    Directory of Open Access Journals (Sweden)

    Dino Buzzetti

    2010-02-01

    Full Text Available È possibile operare una forma di epoché sui concetti di carattere teologico? Ed è possibile riflettere sulla loro importanza, prescindendo dalla loro portata religiosa? I concetti teologici riescono a dirci qualcosa, se si trascura il loro riferimento essenziale alla nostra relazione con un essere divino? La risposta a queste domande consente di comprendere che cosa significhi essere un studioso laico della filosofia medievale, mentre è impossibile discutere tale problema senza prendere in considerazione anche la teologia medievale. Tutto ciò dunque riguarda non solo la natura della teologia, ma anche l’idea stessa di laicità. Dunque una storiografia del pensiero medievale pienamente consapevole di se stessa deve studiare il discorso teologico e affrontare in profondità la portata teorica di questo problema. Si può concludere che per una lettura laica della teologia medievale è paradossalmente essenziale cogliere proprio il senso intimo del pensiero religioso e le forme storicamente determinate della sua effettiva concettualizzazione.  Is some form of epoché possible on theological concepts? In which way? Is it possible consider their importance leaving their religious scope aside? Can the theological concepts tell us something unless we consider their essential reference to our relationship with a divine being? The answer to these questions let us to understand what means to be a secular (laico scholar of medieval philosophy. It's impossible conversely to discuss this problem without dealing with medieval theology. And this concerns not only the nature of theology, but also and deeply the same idea of secularism (laicità. Therefore a fully aware historiography of medieval thought has to understand the theological speech and to encounter the depth of this theoretical question. So we can conclude that for a secular reading of the medieval theology is paradoxically essential to catch the intimate sense of religious thought and the

  7. LA LINGUA PER STUDIARE: UNA RASSEGNA BIBLIOGRAFICA

    Directory of Open Access Journals (Sweden)

    Marina Tassara

    2011-02-01

    Full Text Available I libri di testo adottati nelle scuole contengono parole sconosciute e costruzioni sintattiche e testuali complesse che rappresentano dei veri e propri “muri linguistici” per gli alunni stranieri che non possiedono una buona conoscenza della lingua italiana. Ciò facilmente determina un divario di competenze tra l’apprendente straniero e i suoi compagni e ritardi scolastici molto spesso incolmabili con conseguente perdita di motivazione e di autostima, senso di frustrazione e isolamento che a volte sfocia in un disagio psico-sociale. Tra gli strumenti adottati dalla scuola italiana per far fronte a questo problema vi sono i testi disciplinari ad alta comprensibilità che, pur mantenendo la maggior parte delle informazioni, le veicolano in una forma più semplice dal punto di vista linguistico. L’articolo fornisce una bibliografia di manuali ad alta comprensibilità il più possibile aggiornata suddivisa per ordine e grado di scuola e per materia scolastica, con l’intento di fornire agli insegnanti un aiuto nella scelta e nel reperimento dei testi.     Language for study:  a bibliography   Textbooks used in schools contain unknown words and complex sentence constructions that create real “linguistic barriers” for foreign students who do not know Italian well.  This creates an abyss between the competence of the foreign learner and his or her classmates and unsuccessful school performance which is often not made up for and leads to a loss of self-esteem, frustration, isolation, and ultimately to psycho-social malaise.  Among the tools utilized in the Italian school system to address this problem are highly comprehensible textbooks which, while containing most of the information, express the content in simpler language.  This article offers an up-dated bibliography of textbooks which are easily understandable, divided according to order and grade of school, for teachers to use in choosing the textbooks for their classes.

  8. Adaptación domótica de una vivienda para una persona con discapacidad

    OpenAIRE

    Sánchez Bermúdez, Francisca

    2015-01-01

    Este proyecto plantea la necesidad de adaptar viviendas para personas con discapacidad con el objetivo de que se garantice el confort y la accesibilidad, no solo del discapacitado, sinó de todas las personas integrantes en ese hogar. En concreto, está focalizado en un caso real de una niña de 3 años que vive con sus padres. Se contempla a partir de un sistema económico y sencillo para que las personas usuarias del mismo, puedan tener garantizado a largo plazo una me...

  9. Educación familiar para una afectividad, desde una antropología personalista

    OpenAIRE

    Pedreros Silva, Claudia A.

    2014-01-01

    Este trabajo pretende dar a conocer una propuesta de formación afectiva sexual para niños y adolescentes llamada “Aprendiendo a Querer”, un programa que abarca todo el arco de desarrollo del estudiante en el trascurso de la formación en los ciclos básica y media en Chile. Es una propuesta que encuentra cabida en la legislación vigente en el Estado de Chile bajo la ley general de educación 20.370 y la ley de salud 20.418 que establece la obligatoriedad de implementar...

  10. Implementació d'una Cache per a un processador MIPS d'una FPGA

    OpenAIRE

    Riera Villanueva, Marc

    2013-01-01

    [CATALÀ] Primer s'explicarà breument l'arquitectura d'un MIPS, la jerarquia de memòria i el funcionament de la cache. Posteriorment s'explicarà com s'ha dissenyat i implementat una jerarquia de memòria per a un MIPS implementat en VHDL en una FPGA. [ANGLÈS] First, the MIPS architecture, memory hierarchy and the functioning of the cache will be explained briefly. Then, the design and implementation of a memory hierarchy for a MIPS processor implemented in VHDL on an FPGA will be explained....

  11. Oxitocina: nuevas perspectivas para una droga antigua

    OpenAIRE

    Steven L. CLARK; Kathleen Rice SIMPSON; G. Eric KNOX; Thomas J. GARITE

    2010-01-01

    La oxitocina es el medicamento más comúnmente asociada con la prevención de complicaciones perinatales y recientemente fue incluida por el Instituto para la Administración Medicamentosa Segura (Institute for Safe Medication Practices - ISMP) en una pequeña lista de medicamentos “con alto grado de riesgos”, lo que puede “necesitar salvaguardas especiales para reducir el riesgo de error”. Las recomendaciones actuales para administrar este medicamento son vagas en relación a la indicación, tiemp...

  12. Una alternativa literaria para la literatura

    Directory of Open Access Journals (Sweden)

    Fernando Urueta Gutiérrez

    2010-01-01

    artistas: ellos, igual que quienes actúan en otros campos, también son objeto de determinaciones sociales y económicas. Las posiciones y disposiciones en el campo del arte han quedado así reducidas a las proporciones justas: los valores estéticos no son puramente estéticos, sino que responden a una búsqueda de prestigio, o a convicciones morales, o a intereses de poder económico y político.

  13. PLANIFICACION FAMILIAR: Un Derecho y una Necesidad

    Directory of Open Access Journals (Sweden)

    Miguel Trias

    1984-09-01

    Full Text Available

    La relación que existe entre el crecimiento poblacional y la situación socio-economica de una región, país o continente es algo que en forma intuitiva y vaga se conoce desde la más
    remota antigüedad. No menos conocido, en cada familia, ha sido el efecto nocivo de una
    reproducción superior a la deseada.
    Se ha necesitado del perfeccionismo de nuestros demógrafos y estadísticos para oscurecer la cuestión debajo y detrás de montañas de datos y de complejas ecuaciones.

    La generalizada y muy frecuente práctica del infanticidio entre tantos pueblos primitivos
    de ayer y de hoy, demuestra que a pesar de la elevada mortalidad natural, uno de los pocos insumos sobrantes del que se puede, cuando no se debe, disponer con facilidad es la vida humana acabada de nacer. Los superficiales ritos propiciatorios utilizados en algunos
    casos para su eliminación, le dan un escaso barniz religioso a la profunda preocupación
    ecológica y por consiguiente demográfica que los subyace.

    El infanticidio por simple abandono, practicado sin reatos de conciencia en la China Imperial el Imperio Romano o la Inglaterra pre-victoriana tenia una clara etiología social y económica. Los multitudinarios sacrificios juveniles de los Aztecas en un altiplano altamente erosionado por sobrecultivo, como el que encontraron los españoles a su llegada, parece no tener otra explicación razonable que el de ser una desesperada solución a un grave desequilibrio ecológico. Un desequilibrio que corrigió rápidamente la mortalidad mucho más eficiente que introducir los microbios europeos transportados por los conquistadores...

  14. Una experiencia del atletismo en Cantabria

    OpenAIRE

    Castillo Saornil, Santos

    2017-01-01

    Tesina titulada "Una experiencia del atletismo en Cantabria" del autor Santos Castillo Saornil y dirigida por el profesor Jesús Patricio Durán Piqueras. Instituto Nacional de Educación Física, curso 1983-1984. Consta de los siguientes capítulos: enseñanza del atletismo, iniciación al atletismo, la lección de iniciación al atletismo, iniciación a las carreras, experiencias personales, conclusiones y bibliografía.

  15. Praga, una suburbanización semidirigida

    OpenAIRE

    Welch Guerra, Max

    2011-01-01

    Índice Praga: breve perfil urbanístico. Nuevos factores para el desarrollo espacial desde 1989. Dos nuevos planes para la ciudad en su conjunto. Una suburbanización semidirigida. Entrevistas a expertos realizadas entre enero y julio de 2000. Bibliografía.ResumenDesde hace alrededor de 10 años se producen en Europa centrooriental transformaciones sociales profundas que abren un nuevo capítulo en la historia del urbanismo. A causa de muy diversos factores, en las estructuras urbanas de las gran...

  16. Tuberculosis una enfermedad prevenible y curable

    OpenAIRE

    García-Goez, José Fernando; Bedoya Quintero, Yamile

    2013-01-01

    La tuberculosis (TB) es una de las infecciones mas importante a nivel mundial, pues causa un número importante de muertes a pesar de ser prevenible y curable La Organización Mundial de la Salud (OMS) estima que 1/3 de la población mundial se encuentra infectada por el Mycobacterium tuberculosis causante de la TB y anualmente se reportan 8.8 millones de casos nuevos de TB, que fallecen 3 millones de personas a consecuencia de esta enfermedad y entre un 10% y 12% de los pac...

  17. Una reforma constitucional para la periferia europea

    OpenAIRE

    Gerardo Pissarello

    2011-01-01

    La intempestiva reforma del artículo 135 de la Constitución española puede leerse como una expresión más de la erosión en Europa de los elementos garantistas del constitucionalismo de posguerra. Tanto por su contenido como por el procedimiento empleado para acometerla, su aprobación aparece reñida con principios constitucionales básicos, como el democrático, el del Estado social o el de la autonomía territorial. Asimismo, supone un golpe a la legitimidad global de la Constitución cuya reversi...

  18. Marketing Experiencial: Una nueva tendencia del marketing

    OpenAIRE

    Magro Magdalena, Lara

    2013-01-01

    El reciente desarrollo de las tecnologías y su cada vez mayor implicación en la vida diaria de las personas, ha permitido en el mundo del marketing, la creación de nuevos modelos de negocio y promociones que buscan cautivar, interesar y sorprender, siempre de forma innovadora y distintiva a los usuarios finales. Durante todo el trabajo presentado a continuación, se va a explicar una nueva forma de marketing que está creando moda entre las firmas más prestigiosas, como pueden ser A...

  19. Arte Joven: 1901, una revista modernista

    OpenAIRE

    Flores Arroyuelo, Francisco José

    2002-01-01

    La revista Arte Joven, publicada en 1901, fue exponente del primer movimiento modernista y de sus afanes renovadores en el campo de las artes y de la literatura que se desarrollaron en España en el cambio del siglo XIX al siglo XX. Participaron en ella escritores y artistas de diversa forma de pensar y con distintas intenciones estéticas, desde Picasso a Unamuno, pero con una intención común de superar los esquemas establecidos por la estética realista anterior.

  20. Aprendizaje Servicio. Una experiencia en Gobierno TI

    OpenAIRE

    García-Peñalvo, F. J.

    2017-01-01

    La conferencia “Aprendizaje Servicio. Una experiencia en Gobierno TI” fue impartida el día 16 de octubre de 2017 en la II Jornada: Aprendizaje Servicio y otras experiencias de innovación educativa en la UPM, dentro del Ciclo de Jornadas 2017. Tendencias en Innovación Educativa y su implantación en UPM. Presenta cómo se ha aplicado el aprendizaje-servicio en el contexto de la asignatura Gobierno de Tecnologías de la Información, del Máster en Ingeniería Informática de la Universidad ...

  1. Leasing: una alternativa de financiamiento para PYMES

    OpenAIRE

    Bedjan, María Belén

    2008-01-01

    En la actualidad las pequeñas y medianas empresas encuentran dificultades para acceder a las líneas tradicionales de créditos bancarios. Por otro lado las empresas necesitan actualizarse constantemente para poder ser competitivas en el mercado. Es aquí donde el leasing nace como una alternativa de financiación para las PyMEs. Este trabajo pretendió demostrar la conveniencia financiera del leasing con respecto a los préstamos bancarios para la compra de maquinarias agrícolas ...

  2. Dimorfismo sexual mandibular en una coleccion formativa

    OpenAIRE

    Barboza, María Carolina; Mendonça, Osvaldo Juan; Bordach, María A.

    2005-01-01

    Muchas piezas óseas permiten la estimación sexual. En la mandíbula es mediante la observación de sectores morfoestructurales (gonion, mentón, rama, etc). La efectividad discriminatoria de esta estructura puede verse incremententada y/o complementada con nuevas propuestas técnico-metodológicas. Una de estas propuestas (Loth y Henneberg 1996), basada en la conformación anatómica de la inflexión del borde posterior de la rama mandibular, ha sido cuestionada en su eficiencia diagnóstica. Puesto q...

  3. Valores y preferencias televisivas: una experiencia universitaria

    OpenAIRE

    Palacios Navarro, Santiago; Medrano Samaniego, Concepción; Cortes Pascual, Alejandra

    2005-01-01

    El trabajo que se presenta forma parte, por un lado, de una investigación más amplia donde se ha recogido información sobre distintas variables: conocimientos previos, hábitos de estudio, estrategias motivacionales, estilos de aprendizaje, estilos de pensamiento, juicio moral, razonamiento personal, autoconcepto, madurez (adultez), valores y razonamiento lógico. Por otro lado, este trabajo es uno de los primeros pasos del proyecto de investigación en torno a la siempre problemática r...

  4. Publicidad, medio para crear una ventaja competitiva

    OpenAIRE

    Leyva Mancera, Jose Luis

    2014-01-01

    El caso muestra la manera en que surge una capacidad dinámica de reacción de la empresa líder del mercado en el sector automotriz en Colombia. GM Colmotores, genera estrategias para responder a los cambios, oportunidades y retos del mercado y los competidores. Así mismo se muestra la flexibilidad y evolución de la empresa que durante los últimos años siempre ha estado con la mayor porción de mercado en la industria. El desarrollo del caso permite ver como por medio de la capacidad de diri...

  5. Una visión de la mujer española en la prensa anglosajona del XIX

    Directory of Open Access Journals (Sweden)

    María Dolores Bastida de la Calle

    1999-01-01

    Full Text Available La larga tradición anglosajona de crónicas de viaje, junto a los avances en prensa y comunicaciones, propiciaron la aparición de una cierta imagen de la mujer española en publicaciones gráficas de la segunda mitad del siglo XIX. La nostalgia romántica de los artistas del xix por una España rica en huellas del pasado resultó en una visión de la española cargada de pintoresquismo y crítica a su retraso social. Los tópicos de esa visión se escenificaron en la prensa ilustrada siguiendo variantes estéticas de la época: la variante positivista de la viñeta tipológica: la literario-costumbrista de los relatos y guias de viaje; la periodística del dibujo de noticia.The old English tradition of travel chronicles, together with press and communication advances, gave rise to a particular image of Spanish women in British and American magazines of the second half of the nineteenth century. The artist's Romantic longing for the legacy of Old Spain resulted in both a picturesque view of her women and criticism of their backward social condition. The graphic press set down a variety of images of Spanish women following aesthetic trends of the times: the positivist approach in typological vignettes; high-art images from touristic literature; a journalist's view in news illustrations.

  6. Family studies to find rare high risk variants in migraine

    DEFF Research Database (Denmark)

    Hansen, Rikke Dyhr; Christensen, Anne Francke; Olesen, Jes

    2017-01-01

    genetic variants with bigger effect size may be involved in the disease. Since migraine has a tendency to cluster in families, a family approach might be the way to find these variants. This is also indicated by identification of migraine-associated loci in classical linkage-analyses in migraine families....... A single migraine study using a candidate-gene approach was performed in 2010 identifying a rare mutation in the TRESK potassium channel segregating in a large family with migraine with aura, but this finding has later become questioned. The technologies of next-generation sequencing (NGS) now provides...... an affordable tool to investigate the genetic variation in the entire exome or genome. The family-based study design using NGS is described in this paper. We also review family studies using NGS that have been successful in finding rare variants in other common complex diseases in order to argue the promising...

  7. Arrhythmogenic KCNE gene variants: current knowledge and future challenges

    Directory of Open Access Journals (Sweden)

    Shawn M Crump

    2014-01-01

    Full Text Available There are twenty-five known inherited cardiac arrhythmia susceptibility genes, all of which encode either ion channel pore-forming subunits or proteins that regulate aspects of ion channel biology such as function, trafficking and localization. The human KCNE gene family comprises five potassium channel regulatory subunits, sequence variants in each of which are associated with cardiac arrhythmias. KCNE gene products exhibit promiscuous partnering and in some cases ubiquitous expression, hampering efforts to unequivocally correlate each gene to specific native potassium currents. Likewise, deducing the molecular etiology of cardiac arrhythmias in individuals harboring rare KCNE gene variants, or more common KCNE polymorphisms, can be challenging. In this review we provide an update on putative arrhythmia-causing KCNE gene variants, and discuss current thinking and future challenges in the study of molecular mechanisms of KCNE-associated cardiac rhythm disturbances.

  8. Dandy-Walker variant in Coffin-Siris syndrome.

    Science.gov (United States)

    Imai, T; Hattori, H; Miyazaki, M; Higuchi, Y; Adachi, S; Nakahata, T

    2001-04-22

    We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain. Copyright 2001 Wiley-Liss, Inc.

  9. PCSK9 genetic variants and risk of type 2 diabetes

    DEFF Research Database (Denmark)

    Schmidt, Amand F; Swerdlow, Daniel I; Holmes, Michael V

    2017-01-01

    used data from cohort studies, randomised controlled trials, case control studies, and genetic consortia to estimate associations of PCSK9 genetic variants with LDL cholesterol, fasting blood glucose, HbA1c, fasting insulin, bodyweight, waist-to-hip ratio, BMI, and risk of type 2 diabetes, using...... diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk. METHODS: In this mendelian randomisation study, we...... a standardised analysis plan, meta-analyses, and weighted gene-centric scores. FINDINGS: Data were available for more than 550 000 individuals and 51 623 cases of type 2 diabetes. Combined analyses of four independent PCSK9 variants (rs11583680, rs11591147, rs2479409, and rs11206510) scaled to 1 mmol/L lower LDL...

  10. Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

    Science.gov (United States)

    Balendra, Rubika; Uphill, James; Collinson, Claire; Druyeh, Ronald; Adamson, Gary; Hummerich, Holger; Zerr, Inga; Gambetti, Pierluigi; Collinge, John; Mead, Simon

    2016-04-07

    Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent association study identified variants in or near to the PLCXD3 gene locus as strong disease risk factors in multiple human prion diseases. This study claimed the first non-PRNP locus to be highly significantly associated with prion disease in genomic studies. A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. Whole exome sequencing to identify rare coding variants of PLCXD3. Imputation of relevant polymorphisms was accurate based on wet genotyping of a sample. We found no supportive evidence that PLCXD3 variants are associated with disease. The marked discordance in vCJD genotype frequencies between studies, despite extensive overlap in vCJD cases, and the finding of Hardy-Weinberg disequilibrium in the original study, suggests possible reasons for the discrepancies between studies.

  11. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Directory of Open Access Journals (Sweden)

    A. Dessa Sadovnick

    2016-07-01

    Full Text Available Multiple sclerosis (MS is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D in plasminogen (PLG as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351 in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117, despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87. To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.

  12. CEACAM6 gene variants in inflammatory bowel disease.

    Science.gov (United States)

    Glas, Jürgen; Seiderer, Julia; Fries, Christoph; Tillack, Cornelia; Pfennig, Simone; Weidinger, Maria; Beigel, Florian; Olszak, Torsten; Lass, Ulrich; Göke, Burkhard; Ochsenkühn, Thomas; Wolf, Christiane; Lohse, Peter; Müller-Myhsok, Bertram; Diegelmann, Julia; Czamara, Darina; Brand, Stephan

    2011-04-29

    The carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6) acts as a receptor for adherent-invasive E. coli (AIEC) and its ileal expression is increased in patients with Crohn's disease (CD). Given its contribution to the pathogenesis of CD, we aimed to investigate the role of genetic variants in the CEACAM6 region in patients with inflammatory bowel diseases (IBD). In this study, a total of 2,683 genomic DNA samples (including DNA from 858 CD patients, 475 patients with ulcerative colitis (UC), and 1,350 healthy, unrelated controls) was analyzed for eight CEACAM6 SNPs (rs10415946, rs1805223 = p.Pro42Pro, rs4803507, rs4803508, rs11548735 = p.Gly239Val, rs7246116 = pHis260His, rs2701, rs10416839). In addition, a detailed haplotype analysis and genotype-phenotype analysis were performed. Overall, our genotype analysis did not reveal any significant association of the investigated CEACAM6 SNPs and haplotypes with CD or UC susceptibility, although certain CEACAM6 SNPs modulated CEACAM6 expression in intestinal epithelial cell lines. Despite its function as receptor of AIEC in ileal CD, we found no association of the CEACAM6 SNPs with ileal or ileocolonic CD. Moreover, there was no evidence of epistasis between the analyzed CEACAM6 variants and the main CD-associated NOD2, IL23R and ATG16L1 variants. This study represents the first detailed analysis of CEACAM6 variants in IBD patients. Despite its important role in bacterial attachment in ileal CD, we could not demonstrate a role for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype. Further functional studies are required to analyze if these gene variants modulate ileal bacterial attachment.

  13. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients

    Science.gov (United States)

    Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Astobiza, Ianire; Alloza, Iraide; Antigüedad, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M; Fernandez, Oscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, Jose Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalban, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles

    2016-01-01

    Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93–1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility. PMID:27194806

  14. CEACAM6 gene variants in inflammatory bowel disease.

    Directory of Open Access Journals (Sweden)

    Jürgen Glas

    Full Text Available BACKGROUND: The carcinoembryonic antigen-related cell adhesion molecule 6 (CEACAM6 acts as a receptor for adherent-invasive E. coli (AIEC and its ileal expression is increased in patients with Crohn's disease (CD. Given its contribution to the pathogenesis of CD, we aimed to investigate the role of genetic variants in the CEACAM6 region in patients with inflammatory bowel diseases (IBD. METHODOLOGY: In this study, a total of 2,683 genomic DNA samples (including DNA from 858 CD patients, 475 patients with ulcerative colitis (UC, and 1,350 healthy, unrelated controls was analyzed for eight CEACAM6 SNPs (rs10415946, rs1805223 = p.Pro42Pro, rs4803507, rs4803508, rs11548735 = p.Gly239Val, rs7246116 = pHis260His, rs2701, rs10416839. In addition, a detailed haplotype analysis and genotype-phenotype analysis were performed. Overall, our genotype analysis did not reveal any significant association of the investigated CEACAM6 SNPs and haplotypes with CD or UC susceptibility, although certain CEACAM6 SNPs modulated CEACAM6 expression in intestinal epithelial cell lines. Despite its function as receptor of AIEC in ileal CD, we found no association of the CEACAM6 SNPs with ileal or ileocolonic CD. Moreover, there was no evidence of epistasis between the analyzed CEACAM6 variants and the main CD-associated NOD2, IL23R and ATG16L1 variants. CONCLUSIONS: This study represents the first detailed analysis of CEACAM6 variants in IBD patients. Despite its important role in bacterial attachment in ileal CD, we could not demonstrate a role for CEACAM6 variants in IBD susceptibility or regarding an ileal CD phenotype. Further functional studies are required to analyze if these gene variants modulate ileal bacterial attachment.

  15. Esofagitis necrotizante aguda: Una entidad inusual

    Directory of Open Access Journals (Sweden)

    Silvana E. Pramparo

    2010-12-01

    Full Text Available La esofagitis necrotizante aguda (ENA, también denominada esófago negro, es una rara enfermedad poco descripta en la literatura médica. Describimos el caso de un hombre de 80 años, con hemorragia digestiva alta quien desarrolló un esófago negro luego de un episodio de hipotensión. La necrosis fue confirmada histológicamente. Los pacientes se presentan con hematemesis y melena en más del 70% de los casos. Los hallazgos endoscópicos muestran una coloración negruzca de la mucosa esofágica. El diagnóstico se realiza con endoscopia y confirmación histológica. La mortalidad es alta (más del 50% aunque relacionada a las enfermedades de base del paciente. Por último, podemos decir que la sospecha es muy importante en el diagnóstico de ENA, particularmente en pacientes ancianos con enfermedades asociadas y evidencia de hemorragia digestiva alta. En este trabajo describimos las características clínicas, endoscópicas e histopatológicas de un paciente con ENA.

  16. Previous Experience a Model of Practice UNAE

    Directory of Open Access Journals (Sweden)

    Ormary Barberi Ruiz

    2017-02-01

    Full Text Available The statements presented in this article represents a preliminary version of the proposed model of pre-professional practices (PPP of the National University of Education (UNAE of Ecuador, an urgent institutional necessity is revealed in the descriptive analyzes conducted from technical support - administrative (reports, interviews, testimonials, pedagogical foundations of UNAE (curricular directionality, transverse axes in practice, career plan, approach and diagnostic examination as subject nature of the pre professional practice and the demand of socio educational contexts where the practices have been emerging to resize them. By relating these elements allowed conceiving the modeling of the processes of the pre-professional practices for the development of professional skills of future teachers through four components: contextual projective, implementation (tutoring, accompaniment (teaching couple and monitoring (meetings at the beginning, during and end of practice. The initial training of teachers is inherent to teaching (academic and professional training, research and links with the community, these are fundamental pillars of Ecuadorian higher education.

  17. Pantani di Marco Martinelli: una narrazione polifonica

    Directory of Open Access Journals (Sweden)

    Franco Nasi

    2014-05-01

    Full Text Available In questo articolo si analizza il testo drammaturgico Pantani di Marco Martinelli, una veglia epica teatrale di uno dei più noti eroi dello sport italiano degli ultimi anni. Il dramma rilegge anche la storia di Pantani e ricostruisce gli strani avvenimenti che portarono alla sospensione, alla estromissione del ciclista dal Giro d’Italia nel 1999, e in seguito alla sua profonda crisi psicologica e tragica morte in solitudine in un hotel, a soli 34 anni. Oltre alle modalità proprie della veglia rituale, il dramma utilizza anche i metodi del processo giudiziario, e offre testimonianze dettagliate che conducono a una riflessione critica sulla società italiana negli anni del potere politico di Berlusconi e della sua filosofia del consumismo. I tre diversi generi della retorica classica (epidittico, giudiziario e deliberativo si mescolano in questa complessa tessitura teatrale. Coniugando informazioni (processo e rito (veglia, Martinelli riesce a fondere la tragedia greca (forma mimetica e corale e il moderno teatro di narrazione (forma diegetica monologante. Combinando assieme scene intensamente drammatiche, ricordi di imprese sportive epiche, passaggi giocosi e parodici, e giustapponendo vari stili e registri (giornalistico, lirico, parodico, elegiaco, Martinelli crea momenti di forte “straniamento” e sorpresa, e rende particolarmente efficace il rito funebre, la ricostruzione storica della tragica vicenda di Pantani e la critica all’ideologia che ha dominato l’Italia negli anni di Berlusconi.

  18. Una vida ligada a La Floresta

    Directory of Open Access Journals (Sweden)

    Kintto Lucas

    2015-01-01

    Full Text Available En este número, el módulo Dibujos Animados, recoge las experiencias del primer curso realizado por el CIESPAL con apoyo de la UNICEF sobre la producción de programas educativos y culturales que utilizan este recurso como una opción comunicacional. Se trata de nuevas tecnologías aprovechadas en Cuba y que pueden ser aplicadas en nuestros países. El módulo relativo al medio ambiente habla del periodismo ecológico con importante desarrollo en América Latina, tema de actualidad que requiere preocupación por parte de los medios de comunicación. Incluye entrevistas a Gunter Grass y Jesús Polanco. Gabriel Alba adentra a los lectores en una novedosa forma de usar las computadoras. En el módulo Debate se trata la Economía, cultura y comunicación; La publicidad vía televisión, La evolución del merchandising en las novelas brasileñas ¿Exigir Ética solo al periodista?

  19. Una nuova piattaforma per i Dati Aperti

    Directory of Open Access Journals (Sweden)

    Ernesto Lastres

    2013-02-01

    Full Text Available In un panorama di continua evoluzione ed interesse da parte della opinione pubblica sul tema dei “dati open” moltienti della pubblica amministrazione e di governo stanno svolgendo azioni specifiche per la concretizzazione di queste iniziative in ottica di open government. Tuttavia, sono in pochi quelli che nel settore privato hanno intrapreso delle iniziative importanti in tale direzione. In questo articolo presentiamo una iniziativa indipendente per una nuova piattaforma software dedicata ai dati open su internet che, se confermasse i propri scopi, costituirebbe un punto di partenza a livello nazionale per l’accesso a questi dati.In a very evolving context and in a particular moment of public interest in theme of open data, many public organizations and government institutions are carrying out specific actions for the realization of initiatives in order to promote the open government ideas. However, very few private organizations have launched initiatives in this direction. In this paper we present an independent initiative for a new software platform for opendata on the internet that aims to be a starting point at the national level for the access to these kind of data.

  20. Una nuova piattaforma per i Dati Aperti

    Directory of Open Access Journals (Sweden)

    Ernesto Lastres

    2013-02-01

    Full Text Available In un panorama di continua evoluzione ed interesse da parte della opinione pubblica sul tema dei “dati open” moltienti della pubblica amministrazione e di governo stanno svolgendo azioni specifiche per la concretizzazione di queste iniziative in ottica di open government. Tuttavia, sono in pochi quelli che nel settore privato hanno intrapreso delle iniziative importanti in tale direzione. In questo articolo presentiamo una iniziativa indipendente per una nuova piattaforma software dedicata ai dati open su internet che, se confermasse i propri scopi, costituirebbe un punto di partenza a livello nazionale per l’accesso a questi dati. In a very evolving context and in a particular moment of public interest in theme of open data, many public organizations and government institutions are carrying out specific actions for the realization of initiatives in order to promote the open government ideas. However, very few private organizations have launched initiatives in this direction. In this paper we present an independent initiative for a new software platform for opendata on the internet that aims to be a starting point at the national level for the access to these kind of data.

  1. Perforating pilomatrixoma showing atypical presentation: A rare clinical variant

    Directory of Open Access Journals (Sweden)

    Nevra Seyhan

    2018-03-01

    Full Text Available Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a rare benign skin tumor arising from hair follicle stem cells. The most common localization is the head and neck region. Female/male ratio is 3/2. It shows deep subcutaneous placement and occurs in the first two decades of life. Its diameter ranges from 0.5 cm to 3 cm. Multiple lesions are rarely seen. Histopathologically it is characterized by basoloid and ghost cells. Perforating type is a rare clinical variant. Treatment is surgical excision. Our case is presented to draw attention to a rare clinical variant of pilomatrixioma.

  2. Complexity on Acute Myeloid Leukemia mRNA Transcript Variant

    Directory of Open Access Journals (Sweden)

    Carlo Cattani

    2011-01-01

    Full Text Available This paper deals with the sequence analysis of acute myeloid leukemia mRNA. Six transcript variants of mlf1 mRNA, with more than 2000 bps, are analyzed by focusing on the autocorrelation of each distribution. Through the correlation matrix, some patches and similarities are singled out and commented, with respect to similar distributions. The comparison of Kolmogorov fractal dimension will be also given in order to classify the six variants. The existence of a fractal shape, patterns, and symmetries are discussed as well.

  3. Diffuse sclerosing variant of papillary thyroid carcinoma: case report

    International Nuclear Information System (INIS)

    Lee, Seung Chan; Kim, Dong Wook

    2006-01-01

    Diffuse sclerosing papillary carcinoma (DSPC) is a variant of papillary thyroid carcinoma (PTC), but it shows more aggressive clinical course and a poorer prognosis than the other types of PTC. Most PTCs show a focal nodular pattern in the thyroid on the imaging modalities, but DSPC reveals a diffuse infiltrating configuration in the thyroid without any focal nodular lesion. To our knowledge, there are scant radiological reports of diffuse sclerosing variant of papillary thyroid carcinoma. In this report, we present the case of a patient with DSPC who showed the characteristic findings on sonography and computed tomography

  4. Identifying genetic variants that affect viability in large cohorts.

    Directory of Open Access Journals (Sweden)

    Hakhamanesh Mostafavi

    2017-09-01

    Full Text Available A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA cohort and to the parents of participants in the UK Biobank. Across the genome, we found only a few common variants with large effects on age-specific mortality: tagging the APOE ε4 allele and near CHRNA3. These results suggest that when large, even late-onset effects are kept at low frequency by purifying selection. Testing viability effects of sets of genetic variants that jointly influence 1 of 42 traits, we detected a number of strong signals. In participants of the UK Biobank of British ancestry, we found that variants that delay puberty timing are associated with a longer parental life span (P~6.2 × 10-6 for fathers and P~2.0 × 10-3 for mothers, consistent with epidemiological studies. Similarly, variants associated with later age at first birth are associated with a longer maternal life span (P~1.4 × 10-3. Signals are also observed for variants influencing cholesterol levels, risk of coronary artery disease (CAD, body mass index, as well as risk of asthma. These signals exhibit consistent effects in the GERA cohort and among participants of the UK Biobank of non-British ancestry. We also found marked differences between males and females, most notably at the CHRNA3 locus, and variants associated with risk of CAD and cholesterol levels. Beyond our findings, the analysis serves as a proof of principle for how upcoming biomedical data sets can be used to learn about selection effects in contemporary humans.

  5. Nonparaxial and paraxial focusing of azimuthal-variant vector beams.

    Science.gov (United States)

    Gu, Bing; Cui, Yiping

    2012-07-30

    Based on the vectorial Rayleigh-Sommerfeld formulas under the weak nonparaxial approximation, we investigate the propagation behavior of a lowest-order Laguerre-Gaussian beam with azimuthal-variant states of polarization. We present the analytical expressions for the radial, azimuthal, and longitudinal components of the electric field with an arbitrary integer topological charge m focused by a nonaperturing thin lens. We illustrate the three-dimensional optical intensities, energy flux distributions, beam waists, and focal shifts of the focused azimuthal-variant vector beams under the nonparaxial and paraxial approximations.

  6. Beam manipulating by metallic nano-slits with variant widths.

    Science.gov (United States)

    Shi, Haofei; Wang, Changtao; Du, Chunlei; Luo, Xiangang; Dong, Xiaochun; Gao, Hongtao

    2005-09-05

    A novel method is proposed to manipulate beam by modulating light phase through a metallic film with arrayed nano-slits, which have constant depth but variant widths. The slits transport electro-magnetic energy in the form of surface plasmon polaritons (SPPs) in nanometric waveguides and provide desired phase retardations of beam manipulating with variant phase propagation constant. Numerical simulation of an illustrative lens design example is performed through finite-difference time-domain (FDTD) method and shows agreement with theory analysis result. In addition, extraordinary optical transmission of SPPs through sub-wavelength metallic slits is observed in the simulation and helps to improve elements' energy using factor.

  7. El asistente personal para una vida independiente: una figura en construcción

    OpenAIRE

    Carbonell Aparici, Gonzalo José

    2017-01-01

    La figura del Asistente Personal (AP), que hace posible la autonomía de una persona con diversidad funcional (PDF), puede ser considerada desde diversas perspectivas. La primera es la del Movimiento de Vida Independiente (MVI), que ofrece el sustento te�

  8. La enfermera escolar, ¿una utopía o una realidad?

    OpenAIRE

    Bayón Carrascal, María

    2013-01-01

    En la actualidad, los problemas de los alumnos que acuden a la escuela no se reducen sólamente a un examen difícil, unos deberes sin hacer o una asignatura suspensa, si no que a menudo sufren onsecuencias como alguna enfermedad, malos hábitos, trastornos alimenticios, problemas de drogodependencia o embarazos no deseados

  9. El método es una digresión. Una lectura benjaminiana de Goethe

    Directory of Open Access Journals (Sweden)

    María Filomena MOLDER

    2017-12-01

    Full Text Available El propio Benjamin nos dice que leer el trabajo de Simmel sobre el concepto de verdad en Goethe le ayudó a comprender que el concepto de origen propuesto en su libro sobre el Trauerspiel era una transposición del concepto goethiano de fenómeno original. Para discutir cómo los hechos económicos pueden convertirse en fenómenos originales, Benjamin se sirve de una analogía con el concepto de Goethe de la metamorfosis de las plantas. Por eso, aquí, intentaremos demostrar que comprender lo que es la filosofía en Benjamin implica una experiencia de umbral –en forma de salto, discontinuidad, interrupción, renuncia, disipación, obediencia y metamorfosis– cuya formulación suprema, concisa y enigmática es la siguiente: “El método es un desvio” [Methode is Umweg]. Algunos elementos del pensamiento morfológico de Goethe permitirán establecer una constelación de afinidades, algo bastante útil para la interpretación de este enigma.

  10. Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants.

    Science.gov (United States)

    Tada, Hayato; Kawashiri, Masa-Aki; Yamagishi, Masakazu

    2017-04-01

    Dyslipidemias, especially hyper-low-density lipoprotein cholesterolemia and hypertriglyceridemia, are important causal risk factors for coronary artery disease. Comprehensive genotyping using the 'next-generation sequencing' technique has facilitated the investigation of Mendelian dyslipidemias, in addition to Mendelian randomization studies using common genetic variants associated with plasma lipids and coronary artery disease. The beneficial effects of low-density lipoprotein cholesterol-lowering therapies on coronary artery disease have been verified by many randomized controlled trials over the years, and subsequent genetic studies have supported these findings. More recently, Mendelian randomization studies have preceded randomized controlled trials. When the on-target/off-target effects of rare variants and common variants exhibit the same direction, novel drugs targeting molecules identified by investigations of rare Mendelian lipid disorders could be promising. Such a strategy could aid in the search for drug discovery seeds other than those for dyslipidemias.

  11. Éticas amtientales: variantes de la formación ambiental

    Directory of Open Access Journals (Sweden)

    Teresa ROMAÑÁ

    2009-11-01

    Full Text Available RESUMEN: Frente a la crisis de civilización occidental cuya naturaleza es cultural, muchos pensamos que es necesario un replanteamiento ético-ecológico. En este trabajo reflexionamos acerca de las tres principales tendencias éticas que coexisten en nuestra sociedad en relación a la formación de nuevas actitudes sobre el medio ambiente, y que en consecuencia configuran tres modelos fundamentales de formación en valores ambientales. Exponemos estas tres variantes y sus ventajas y carencias en relación a la formación ambiental de los ciudadanos. Nuestra conclusión es que es necesario combinar críticamente algunos elementos de cada una de las tendencias analizadas.SUMMARY: A reflection in ecological values in necessary in front of the actual crisis of western civilization related to global problems. In this paper we analize the three main ethical trends that coexist in our society in relation to the training of new attitudes and values about environment. We expound their advantages and problems and we conclude that in necessary to combina critically certain elements of each one of the environmental discourses.

  12. Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants.

    Science.gov (United States)

    Saha, N; Hong, S H; Wong, H A; Jeyaseelan, K; Tay, J S

    1991-12-01

    Biochemical characteristics of one non-deficient fast G6PD variant (GdSingapore) and six different deficient variants (three new, two Mahidol, one each of Indonesian and Mediterranean) were studied among the Malays of Singapore. The GdSingapore variant had normal enzyme activity (82%) and fast electrophoretic mobilities (140% in TEB buffer, 160% in phosphate and 140% in Tris-HCl buffer systems respectively). This variant is further characterized by normal Km for G6P; utilization of analogues (Gal6P, 2dG6P; dAmNADP), heat stability and pH optimum. The other six deficient G6PD variants had normal electrophoretic mobility in TEB buffer with enzyme activities ranging from 1 to 12% of GdB+. The biochemical characteristics identity them to be 2 Mahidol, 1 Indonesian and 1 Mediterranean variants and three new deficient variants.

  13. Detecting very low allele fraction variants using targeted DNA sequencing and a novel molecular barcode-aware variant caller.

    Science.gov (United States)

    Xu, Chang; Nezami Ranjbar, Mohammad R; Wu, Zhong; DiCarlo, John; Wang, Yexun

    2017-01-03

    Detection of DNA mutations at very low allele fractions with high accuracy will significantly improve the effectiveness of precision medicine for cancer patients. To achieve this goal through next generation sequencing, researchers need a detection method that 1) captures rare mutation-containing DNA fragments efficiently in the mix of abundant wild-type DNA; 2) sequences the DNA library extensively to deep coverage; and 3) distinguishes low level true variants from amplification and sequencing errors with high accuracy. Targeted enrichment using PCR primers provides researchers with a convenient way to achieve deep sequencing for a small, yet most relevant region using benchtop sequencers. Molecular barcoding (or indexing) provides a unique solution for reducing sequencing artifacts analytically. Although different molecular barcoding schemes have been reported in recent literature, most variant calling has been done on limited targets, using simple custom scripts. The analytical performance of barcode-aware variant calling can be significantly improved by incorporating advanced statistical models. We present here a highly efficient, simple and scalable enrichment protocol that integrates molecular barcodes in multiplex PCR amplification. In addition, we developed smCounter, an open source, generic, barcode-aware variant caller based on a Bayesian probabilistic model. smCounter was optimized and benchmarked on two independent read sets with SNVs and indels at 5 and 1% allele fractions. Variants were called with very good sensitivity and specificity within coding regions. We demonstrated that we can accurately detect somatic mutations with allele fractions as low as 1% in coding regions using our enrichment protocol and variant caller.

  14. A population-specific uncommon variant in GRIN3A associated with schizophrenia.

    Science.gov (United States)

    Takata, Atsushi; Iwayama, Yoshimi; Fukuo, Yasuhisa; Ikeda, Masashi; Okochi, Tomo; Maekawa, Motoko; Toyota, Tomoko; Yamada, Kazuo; Hattori, Eiji; Ohnishi, Tetsuo; Toyoshima, Manabu; Ujike, Hiroshi; Inada, Toshiya; Kunugi, Hiroshi; Ozaki, Norio; Nanko, Shinichiro; Nakamura, Kazuhiko; Mori, Norio; Kanba, Shigenobu; Iwata, Nakao; Kato, Tadafumi; Yoshikawa, Takeo

    2013-03-15

    Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. From the 1000 Genomes Project data, we selected 47 candidate single nucleotide variants (SNVs), which were: 1) uncommon (minor allele frequency way to discover risk variants with larger effects. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  15. Impacto ambiental de una mina de mercurio abandonada

    OpenAIRE

    Álvarez Cuartas, María

    2016-01-01

    El objetivo principal de este Trabajo Fin de Máster es la evaluación del impacto ambiental de una explotación minera de mercurio en estado de abandono y de posible contaminación del medio ambiente. Una vez que se comprueba el elevado impacto debido al estado de abandono y a la alta contaminación, se ha elaborado una sencilla propuesta de restauración, barajado y comprando tres posibles alternativas.

  16. Leucoedema: una revisión de la literatura

    OpenAIRE

    Viñals Iglesias, Helena

    1999-01-01

    El leucoedema es una entidad de naturaleza benigna, que clinicamente se describe como un blanqueamiento difuso y opalino de la mucosa oral que le confiere un aspecto aterciopelado, generalmente bilateral, simétrico y de carácter crónico. Es más frecuente en negros americanos, aunque la prevalencia descrita en cada estudio es controvertida, al igual que su patogenia. Histologicamente se caracteriza por una hiperparaqueratosis, una acantosis con hiperplasia epitelial, espongiosis, edema intrace...

  17. Haemoglobin variants among voluntary blood donors in Jos, Nigeria ...

    African Journals Online (AJOL)

    This study aimed to determine the haemoglobin variants among voluntary blood donors in Jos. METHOD: Records of the age, sex, Haemoglobin level, and the haemoglobin genotype of all voluntary blood donors who donated blood at the National Blood Transfusion Service Centre, Jos, Nigeria between January 2011 and ...

  18. Symplastic leiomyoma of uterus: a rare histological variant

    International Nuclear Information System (INIS)

    Yasmeen, F.; Hafeez, M.; Hameed, S.; Ibnerasa, S.N.

    2008-01-01

    Symplastic leiomyoma is a rare histological variant of leiomyoma. This is a case report of a young nulliparous patient who presented with primary infertility for 2 years and swelling in lower abdomen for 6 months. Intramural fibroid was diagnosed during a pelvic ultrasound. Histopathology of that myomectomy showed symplastic leiomyoma with absent mitotic figures. The patient was managed as for a benign tumor. (author)

  19. Clear Speech Variants: An Acoustic Study in Parkinson's Disease

    Science.gov (United States)

    Lam, Jennifer; Tjaden, Kris

    2016-01-01

    Purpose: The authors investigated how different variants of clear speech affect segmental and suprasegmental acoustic measures of speech in speakers with Parkinson's disease and a healthy control group. Method: A total of 14 participants with Parkinson's disease and 14 control participants served as speakers. Each speaker produced 18 different…

  20. A sibship with a mild variant of Zellweger syndrome

    NARCIS (Netherlands)

    Barth, P. G.; Schutgens, R. B.; Wanders, R. J.; Heymans, H. S.; Moser, A. E.; Moser, H. W.; Bleeker-Wagemakers, E. M.; Jansonius-Schultheiss, K.; Derix, M.; Nelck, G. F.

    1987-01-01

    A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver

  1. Combinations of Genetic Variants Occurring Exclusively in Patients

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five ...

  2. Late onset Pompe disease- new genetic variant: Case report ...

    African Journals Online (AJOL)

    The patient was not given enzyme replacement therapy due to cost but received high protein therapy and Oxygen supplementation using Oxygen extractor machine. She is worsening due to respiratory failure. Conclusion: This is a new genetic variant isolated of late-onset Pompe disease which presents with almost pure ...

  3. Abnormal haemoglobin variants, ABO and Rh blood groups among ...

    African Journals Online (AJOL)

    Background: Abnormal haemoglobin variants ( HbSS,AS,AC,SC,etc) have been known to be common among blacks. Patients with sickle cell disease are often faced with the risk of alloimmunization from allogeneic blood transfusion. Objectives: The study was designed to sample students population of African descents for ...

  4. FTO genetic variants, dietary intake and body mass index

    DEFF Research Database (Denmark)

    Qi, Qibin; Kilpeläinen, Tuomas O; Downer, Mary K

    2014-01-01

    FTO is the strongest known genetic susceptibility locus for obesity. Experimental studies in animals suggest the potential roles of FTO in regulating food intake. The interactive relation among FTO variants, dietary intake and body mass index (BMI) is complex and results from previous often small...

  5. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

    Science.gov (United States)

    Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A; Pagnamenta, Alistair T; Alswaid, Abdulrahman; Baker, Eva H; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B; van Gassen, Koen L; Gulsuner, Suleyman; Harr, Margaret H; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A; McDonald-McGinn, Donna M; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R; Rogers, R Curtis; Sagi-Dain, Lena; Sapp, Julie C; Schäffer, Alejandro A; Schanze, Denny; Stewart, Helen; Taylor, Jenny C; Verbeek, Nienke E; Walkiewicz, Magdalena A; Zackai, Elaine H; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G

    2018-02-22

    PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated. The phenotypic range included mildly affected patients, but it was lethal in some, with cardiac disease and leukemia. All of the parents were unaffected. Linkage analysis using a recessive model supported a candidate region in chromosome 22q11, which includes LZTR1, previously shown to harbor mutations in patients with Noonan syndrome inherited in a dominant pattern. Sequencing analyses of 21 live-born patients and a stillbirth identified biallelic pathogenic variants in LZTR1, including putative loss-of-function, missense, and canonical and noncanonical splicing variants in the affected children, with heterozygous, clinically unaffected parents and heterozygous or normal genotypes in unaffected siblings.ConclusionThese clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.Genet Med advance online publication, 22 February 2018; doi:10.1038/gim.2017.249.

  6. Genetic variants in CETP increase risk of intracerebral hemorrhage

    NARCIS (Netherlands)

    Anderson, C.D.; Falcone, G.J.; Phuah, C.L.; Radmanesh, F.; Brouwers, H.B.; Battey, T.W.; Biffi, A.; Peloso, G.M.; Liu, D.J.; Ayres, A.M.; Goldstein, J.N.; Viswanathan, A.; Greenberg, S.M.; Selim, M.; Meschia, J.F.; Brown, D.L.; Worrall, B.B.; Silliman, S.L.; Tirschwell, D.L.; Flaherty, M.L.; Kraft, P.; Jagiella, J.M.; Schmidt, H.; Hansen, B.M.; Jimenez-Conde, J.; Giralt-Steinhauer, E.; Elosua, R.; Cuadrado-Godia, E.; Soriano, C.; Nieuwenhuizen, K.M. van; Klijn, C.J.M.; Rannikmae, K.; Samarasekera, N.; Salman, R.A.; Sudlow, C.L.; Deary, I.J.; Morotti, A.; Pezzini, A.; Pera, J.; Urbanik, A.; Pichler, A.; Enzinger, C.; Norrving, B.; Montaner, J.; Fernandez-Cadenas, I.; Delgado, P.; Roquer, J.; Lindgren, A.; Slowik, A.; Schmidt, R.; Kidwell, C.S.; Kittner, S.J.; Waddy, S.P.; Langefeld, C.D.; Abecasis, G.; Willer, C.J.; Kathiresan, S.; Woo, D.; Rosand, J.

    2016-01-01

    OBJECTIVE: In observational epidemiologic studies, higher plasma high-density lipoprotein cholesterol (HDL-C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL-C;

  7. Genetic variants in CETP increase risk of intracerebral hemorrhage

    NARCIS (Netherlands)

    Anderson, Christopher D.; Falcone, Guido J.; Phuah, Chia Ling; Radmanesh, Farid; Brouwers, H. Bart; Battey, Thomas W K; Biffi, Alessandro; Peloso, Gina M.; Liu, Dajiang J.; Ayres, Alison M.; Goldstein, Joshua N.; Viswanathan, Anand; Greenberg, Steven M.; Selim, Magdy; Meschia, James F.; Brown, Devin L.; Worrall, Bradford B.; Silliman, Scott L.; Tirschwell, David L.; Flaherty, Matthew L.; Kraft, Peter; Jagiella, Jeremiasz M.; Schmidt, Helena; Hansen, Björn M.; Jimenez-Conde, Jordi; Giralt-Steinhauer, Eva; Elosua, Roberto; Cuadrado-Godia, Elisa; Soriano, Carolina; van Nieuwenhuizen, Koen M.; Klijn, Catharina J M; Rannikmae, Kristiina; Samarasekera, Neshika; Salman, Rustam Al Shahi; Sudlow, Catherine L.; Deary, Ian J.; Morotti, Andrea; Pezzini, Alessandro; Pera, Joanna; Urbanik, Andrzej; Pichler, Alexander; Enzinger, Christian; Norrving, Bo; Montaner, Joan; Fernandez-Cadenas, Israel; Delgado, Pilar; Roquer, Jaume; Lindgren, Arne; Slowik, Agnieszka; Schmidt, Reinhold; Kidwell, Chelsea S.; Kittner, Steven J.; Waddy, Salina P.; Langefeld, Carl D.; Abecasis, Goncalo; Willer, Cristen J.; Kathiresan, Sekar; Woo, Daniel; Rosand, Jonathan

    2016-01-01

    Objective: In observational epidemiologic studies, higher plasma high-density lipoprotein cholesterol (HDL-C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL-C;

  8. Sequence variants of the LCORL gene and its association with ...

    Indian Academy of Sciences (India)

    Y. J. HAN

    [Han Y. J., Chen Y., Liu Y. and Liu X. L. 2017 Sequence variants of the LCORL gene and its association with growth and carcass traits in. Qinchuan cattle in China. J. Genet. 96, xx–xx]. Introduction. Genetically selecting is a better way to satisfy the growing customer requirement with the development of beef cattle industry ...

  9. Antigen Loss Variants: Catching Hold of Escaping Foes.

    Science.gov (United States)

    Vyas, Maulik; Müller, Rolf; Pogge von Strandmann, Elke

    2017-01-01

    Since mid-1990s, the field of cancer immunotherapy has seen steady growth and selected immunotherapies are now a routine and preferred therapeutic option of certain malignancies. Both active and passive cancer immunotherapies exploit the fact that tumor cells express specific antigens on the cell surface, thereby mounting an immune response specifically against malignant cells. It is well established that cancer cells typically lose surface antigens following natural or therapy-induced selective pressure and these antigen-loss variants are often the population that causes therapy-resistant relapse. CD19 and CD20 antigen loss in acute lymphocytic leukemia and chronic lymphocytic leukemia, respectively, and lineage switching in leukemia associated with mixed lineage leukemia (MLL) gene rearrangements are well-documented evidences in this regard. Although increasing number of novel immunotherapies are being developed, majority of these do not address the control of antigen loss variants. Here, we review the occurrence of antigen loss variants in leukemia and discuss the therapeutic strategies to tackle the same. We also present an approach of dual-targeting immunoligand effectively retargeting NK cells against antigen loss variants in MLL-associated leukemia. Novel immunotherapies simultaneously targeting more than one tumor antigen certainly hold promise to completely eradicate tumor and prevent therapy-resistant relapses.

  10. Two new splice variants in porcine PPARGC1A

    Directory of Open Access Journals (Sweden)

    Peelman Luc J

    2008-12-01

    Full Text Available Abstract Background Peroxisome proliferator-activated receptor γ coactivator 1α (PPARGC1A is a coactivator with a vital and central role in fat and energy metabolism. It is considered to be a candidate gene for meat quality in pigs and is involved in the development of obesity and diabetes in humans. How its many functions are regulated, is however still largely unclear. Therefore a transcription profile of PPARGC1A in 32 tissues and 4 embryonic developmental stages in the pig was constructed by screening its cDNA for possible splice variants with exon-spanning primers. Findings This led to the discovery of 2 new splice variants in the pig, which were subsequently also detected in human tissues. In these variants, exon 8 was either completely or partly (the last 66 bp were conserved spliced out, potentially coding for a much shorter protein of respectively 337 and 359 amino acids (aa, of which the first 291 aa would be the same compared to the complete protein (796 aa. Conclusion Considering the functional domains of the PPARGC1A protein, it is very likely these splice variants considerably affect the function of the protein and alternative splicing could be one of the mechanisms by which the diverse functions of PPARGC1A are regulated.

  11. Novel Parvovirus and Related Variant in Human Plasma

    Science.gov (United States)

    Fryer, Jacqueline F.; Kapoor, Amit; Minor, Philip D.; Delwart, Eric

    2006-01-01

    We report a novel parvovirus (PARV4) and related variants in pooled human plasma used in the manufacture of plasma-derived medical products. Viral DNA was detected by using highly selective polymerase chain reaction assays; 5% of pools tested positive, and amounts of DNA ranged from 106 copies/mL plasma. PMID:16494735

  12. Mutation update: the spectra of nebulin variants and associated myopathies

    NARCIS (Netherlands)

    Lehtokari, Vilma-Lotta; Kiiski, Kirsi; Sandaradura, Sarah A.; Laporte, Jocelyn; Repo, Pauliina; Frey, Jennifer A.; Donner, Kati; Marttila, Minttu; Saunders, Carol; Barth, Peter G.; den Dunnen, Johan T.; Beggs, Alan H.; Clarke, Nigel F.; North, Kathryn N.; Laing, Nigel G.; Romero, Norma B.; Winder, Thomas L.; Pelin, Katarina; Wallgren-Pettersson, Carina

    2014-01-01

    A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes associated with this gigantic, 183 exons

  13. Micromechanics of transformation-induced plasticity and variant coalescence

    International Nuclear Information System (INIS)

    Marketz, F.; Fischer, F.D.; University for Mining and Metallurgy, Leoben; Tanaka, K.

    1996-01-01

    Quantitative micromechanics descriptions of both transformation-induced plasticity (TRIP) associated with the martensitic transformation in an Fe-Ni alloy and of variant coalescence in a Cu-Al-Ni shape memory alloy are presented. The macroscopic deformation behavior of a polycrystalline aggregate as a result of the rearrangements within the crystallites is modelled with the help of a finite element based periodic microfield approach. In the case of TRIP the parent→martensite transformation is described by microscale thermodynamic and kinetic equations taking into account internal stress states. The simulation of a classical experiment on TRIP allows to quantify the Magee-effect and the Greenwood-Johnson effect. Furthermore, the development of the martensitic microstructure is studied with respect to the stress-assisted transformation of preferred variants. In the case of variant coalescence the strain energy due to internal stress states has an important influence on the mechanical behavior. Formulating the reorientation process on the size scale of self-accommodating plate groups in terms of the mobility of the boundaries between martensitic variants the macroscopic behavior in uniaxial tension is predicted by an incremental modelling procedure. Furthermore, influence of energy dissipation on the overall behavior is quantified. (orig.)

  14. Physical localization of NORs and ITS length variants in old ...

    Indian Academy of Sciences (India)

    [Carvalho A., Guedes-Pinto H. and Lima-Brito J. 2011 Physical localization of NORs and ITS length variants in old Portuguese durum wheat cultivars. J. Genet. ... With the present study, we intend to determine the physical localization and ..... Crosby A. R. 1957 Nucleolar activity of lagging chromosomes in wheat. Am. J. Bot.

  15. Systematic identification of regulatory variants associated with cancer risk.

    Science.gov (United States)

    Liu, Song; Liu, Yuwen; Zhang, Qin; Wu, Jiayu; Liang, Junbo; Yu, Shan; Wei, Gong-Hong; White, Kevin P; Wang, Xiaoyue

    2017-10-23

    Most cancer risk-associated single nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) are noncoding and it is challenging to assess their functional impacts. To systematically identify the SNPs that affect gene expression by modulating activities of distal regulatory elements, we adapt the self-transcribing active regulatory region sequencing (STARR-seq) strategy, a high-throughput technique to functionally quantify enhancer activities. From 10,673 SNPs linked with 996 cancer risk-associated SNPs identified in previous GWAS studies, we identify 575 SNPs in the fragments that positively regulate gene expression, and 758 SNPs in the fragments with negative regulatory activities. Among them, 70 variants are regulatory variants for which the two alleles confer different regulatory activities. We analyze in depth two regulatory variants-breast cancer risk SNP rs11055880 and leukemia risk-associated SNP rs12142375-and demonstrate their endogenous regulatory activities on expression of ATF7IP and PDE4B genes, respectively, using a CRISPR-Cas9 approach. By identifying regulatory variants associated with cancer susceptibility and studying their molecular functions, we hope to help the interpretation of GWAS results and provide improved information for cancer risk assessment.

  16. Disintegrating perineal disease: A variant of watering-can perineum

    African Journals Online (AJOL)

    N. Abrol

    www.ees.elsevier.com/afju · www.sciencedirect.com. Case report. Disintegrating perineal disease: A variant of watering-can perineum. N. Abrol. ∗. , A. Devasia. Department of Urology, Christian Medical College, Vellore, India. Received 11 January 2014; received in revised form 11 January 2014; accepted 11 March 2014.

  17. The Role of Constitutional Copy Number Variants in Breast Cancer

    Science.gov (United States)

    Walker, Logan C.; Wiggins, George A.R.; Pearson, John F.

    2015-01-01

    Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility. Identification of genetic risk factors for breast cancer in recent years has been dominated by the use of genome-wide technologies, such as single nucleotide polymorphism (SNP)-arrays, with a significant focus on single nucleotide variants. To date, these large datasets have been underutilised for generating genome-wide CNV profiles despite offering a massive resource for assessing the contribution of these structural variants to breast cancer risk. Technical challenges remain in determining the location and distribution of CNVs across the human genome due to the accuracy of computational prediction algorithms and resolution of the array data. Moreover, better methods are required for interpreting the functional effect of newly discovered CNVs. In this review, we explore current and future application of SNP array technology to assess rare and common CNVs in association with breast cancer risk in humans. PMID:27600231

  18. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    DEFF Research Database (Denmark)

    Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei

    2017-01-01

    Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 ...

  19. Impaired Interoceptive Accuracy in Semantic Variant Primary Progressive Aphasia

    Directory of Open Access Journals (Sweden)

    Charles R. Marshall

    2017-11-01

    Full Text Available BackgroundInteroception (the perception of internal bodily sensations is strongly linked to emotional experience and sensitivity to the emotions of others in healthy subjects. Interoceptive impairment may contribute to the profound socioemotional symptoms that characterize frontotemporal dementia (FTD syndromes, but remains poorly defined.MethodsPatients representing all major FTD syndromes and healthy age-matched controls performed a heartbeat counting task as a measure of interoceptive accuracy. In addition, patients had volumetric MRI for voxel-based morphometric analysis, and their caregivers completed a questionnaire assessing patients’ daily-life sensitivity to the emotions of others.ResultsInteroceptive accuracy was impaired in patients with semantic variant primary progressive aphasia relative to healthy age-matched individuals, but not in behavioral variant frontotemporal dementia and nonfluent variant primary progressive aphasia. Impaired interoceptive accuracy correlated with reduced daily-life emotional sensitivity across the patient cohort, and with atrophy of right insula, cingulate, and amygdala on voxel-based morphometry in the impaired semantic variant group, delineating a network previously shown to support interoceptive processing in the healthy brain.ConclusionInteroception is a promising novel paradigm for defining mechanisms of reduced emotional reactivity, empathy, and self-awareness in neurodegenerative syndromes and may yield objective measures for these complex symptoms.

  20. Comparing genetic variants detected in the 1000 genomes project ...

    Indian Academy of Sciences (India)

    Single-nucleotide polymorphisms (SNPs) determined based on SNP arrays from the international HapMap consortium (HapMap) and the genetic variants detected in the 1000 genomes project (1KGP) can serve as two references for genomewide association studies (GWAS). We conducted comparative analyses to provide ...

  1. Variant (Prinzmetal's) Form of Angina Pectoris Manifesting in ...

    African Journals Online (AJOL)

    1974-06-08

    , which has been termed the variant or atypical form of angina pectoris. The distribution of the pain is identical with the classic form of angina pectoris, being substernal with radiation to the jaw and down the ulnar surfaces of ...

  2. Basal Cell Ameloblastoma: A Rare Histological Variant of an ...

    African Journals Online (AJOL)

    Ameloblastomas are an inscrutable group of oral tumors. Basal cell ameloblastoma is a rare variant of ameloblastoma with very few cases reported until date. The tumor is composed of more primitive cells and has less conspicuous peripheral palisading. It shows remarkable similarity to basal cell carcinoma, basal cell ...

  3. Multiple Functional Variants in cis Modulate PDYN Expression.

    Science.gov (United States)

    Babbitt, Courtney C; Silverman, Jesse S; Haygood, Ralph; Reininga, Jennifer M; Rockman, Matthew V; Wray, Gregory A

    2010-02-01

    Understanding genetic variation and its functional consequences within cis-regulatory regions remains an important challenge in human genetics and evolution. Here, we present a fine-scale functional analysis of segregating variation within the cis-regulatory region of prodynorphin, a gene that encodes an endogenous opioid precursor with roles in cognition and disease. In order to characterize the functional consequences of segregating variation in cis in a region under balancing selection in different human populations, we examined associations between specific polymorphisms and gene expression in vivo and in vitro. We identified five polymorphisms within the 5' flanking region that affect transcript abundance: a 68-bp repeat recognized in prior studies, as well as two microsatellites and two single nucleotide polymorphisms not previously implicated as functional variants. The impact of these variants on transcription differs by brain region, sex, and cell type, implying interactions between cis genotype and the differentiated state of cells. The effects of individual variants on expression level are not additive in some combinations, implying epistatic interactions between nearby variants. These data reveal an unexpectedly complex relationship between segregating genetic variation and its expression-trait consequences and highlights the importance of close functional scrutiny of natural genetic variation within even relatively well-studied cis-regulatory regions.

  4. A PYY Q62P variant linked to human obesity

    Energy Technology Data Exchange (ETDEWEB)

    Ahituv, Nadav; Kavaslar, Nihan; Schackwitz, Wendy; Ustaszewska,Anna; Collier, John Michael; Hebert, Sybil; Doelle, Heather; Dent,Robert; Pennacchio, Len A.; McPherson, Ruth

    2005-06-27

    Members of the pancreatic polypeptide family and the irreceptors have been implicated in the control of food intake in rodents and humans. To investigate whether nucleotide changes in these candidate genes result in abnormal weight in humans, we sequenced the coding exons and splice sites of seven family members (NPY, PYY, PPY, NPY1R, NPY2R, NPY4R, and NPY5R) in a large cohort of extremely obese (n=379) and lean (n=378) individuals. In total we found eleven rare non-synonymous variants, four of which exhibited familial segregation, NPY1R L53P and PPY P63L with leanness and NPY2R D42G and PYY Q62P with obesity. Functional analysis of the obese variants revealed NPY2R D42G to have reduced cell surface expression, while previous cell culture based studies indicated variant PYY Q62P to have altered receptor binding selectivity and we show that it fails to reduce food intake through mouse peptide injection experiments. These results support that rare non-synonymous variants within these genes can alter susceptibility to human body mass index extremes.

  5. Phenotypes and genotypes in individuals with SMC1A variants

    DEFF Research Database (Denmark)

    Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert

    2017-01-01

    , stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group...

  6. 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.

  7. Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants

    DEFF Research Database (Denmark)

    Spratley, Samantha J; Hill, Chris H; Viuff, Agnete H

    2016-01-01

    different mutations have been identified in GALC that cause Krabbe disease but the mechanisms by which they cause disease remain unclear. We have generated monoclonal antibodies against full-length human GALC and used these to monitor the trafficking and processing of GALC variants in cell-based assays...

  8. The role of common genetic variants in atrial fibrillation

    DEFF Research Database (Denmark)

    Paludan-Muller, Christian; Svendsen, Jesper H.; Olesen, Morten S.

    2016-01-01

    lone AF, has a substantial genetic component. A number of genome-wide association studies (GWAS) have indicated that common genetic variants, more precisely the so called single-nucleotide polymorphisms (SNPs) are associated with AF. Presently more than 10 genomic regions have been identified using...

  9. Common nonsynonymous variants in PCSK1 confer risk of obesity

    DEFF Research Database (Denmark)

    Benzinou, Michael; Creemers, John W M; Choquet, Helene

    2008-01-01

    Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tag SNPs in a total of 13,659 individuals of European ancestry from eight independent case-control or family-based cohorts. The nonsynonymous variants rs6232, encoding N221D...

  10. Prevalence of haemoglobin variants among the Ika ethnic nationality ...

    African Journals Online (AJOL)

    McRoy

    2014-07-26

    Jul 26, 2014 ... mandatory genetic counseling and screening of all intending couples in order to avert the sickling gene pool in our population. REFERENCES. 1. Esan A.J, Omisakin C.T and Okkhuakhua. O. Frequency Distribution of Haemoglobin. Variants, ABO and Rhesus Blood Groups among Children in Ido/Osi Local.

  11. TIAM1 variants improve clinical outcome in neuroblastoma.

    Science.gov (United States)

    Sanmartín, Elena; Yáñez, Yania; Fornés-Ferrer, Victoria; Zugaza, José L; Cañete, Adela; Castel, Victoria; Font de Mora, Jaime

    2017-07-11

    Identification of tumor driver mutations is crucial for improving clinical outcome using a personalized approach to the treatment of cancer. Neuroblastoma is a tumor of the peripheral sympathetic nervous system for which only a few driver alterations have been described including MYCN amplification and ALK mutations. We assessed 106 primary neuroblastoma tumors by next generation sequencing using a customized amplicon-based gene panel. Our results reveal that genetic variants in TIAM1 gene associate with better clinical outcome, suggesting a role for these TIAM1 variants in preventing progression of this disease. The detected variants are located within the different domains of TIAM1 that signal to the upstream regulator RAS and downstream effector molecules MYC and RAC, which are all implicated in neuroblastoma etiology and progression. Clinical outcome was improved in tumors where a TIAM1 variant was present concomitantly with either ALK mutation or MYCN amplification. Given the function of these signaling molecules in cell survival, proliferation, differentiation and neurite outgrowth, our data suggest that the TIAM1-mediated network is essential to neuroblastoma and thus, inhibiting TIAM1 reflects a rational strategy for improving therapy efficacy in neuroblastoma.

  12. Andes hantavirus variant in rodents, southern Amazon Basin, Peru.

    Science.gov (United States)

    Razuri, Hugo; Tokarz, Rafal; Ghersi, Bruno M; Salmon-Mulanovich, Gabriela; Guezala, M Claudia; Albujar, Christian; Mendoza, A Patricia; Tinoco, Yeny O; Cruz, Christopher; Silva, Maria; Vasquez, Alicia; Pacheco, Víctor; Ströher, Ute; Guerrero, Lisa Wiggleton; Cannon, Deborah; Nichol, Stuart T; Hirschberg, David L; Lipkin, W Ian; Bausch, Daniel G; Montgomery, Joel M

    2014-02-01

    We investigated hantaviruses in rodents in the southern Amazon Basin of Peru and identified an Andes virus variant from Neacomys spinosus mice. This finding extends the known range of this virus in South America and the range of recognized hantaviruses in Peru. Further studies of the epizoology of hantaviruses in this region are warranted.

  13. Andes Hantavirus Variant in Rodents, Southern Amazon Basin, Peru

    OpenAIRE

    Razuri, Hugo; Tokarz, Rafal; Ghersi, Bruno M.; Salmon-Mulanovich, Gabriela; Guezala, M. Claudia; Albujar, Christian; Mendoza, A. Patricia; Tinoco, Yeny O.; Cruz, Christopher; Silva, Maria; Vasquez, Alicia; Pacheco, Víctor; Ströher, Ute; Guerrero, Lisa Wiggleton; Cannon, Deborah

    2014-01-01

    We investigated hantaviruses in rodents in the southern Amazon Basin of Peru and identified an Andes virus variant from Neacomys spinosus mice. This finding extends the known range of this virus in South America and the range of recognized hantaviruses in Peru. Further studies of the epizoology of hantaviruses in this region are warranted.

  14. Discovering Reference Process Models by Mining Process Variants

    NARCIS (Netherlands)

    Li, C.; Reichert, M.U.; Wombacher, Andreas

    Recently, a new generation of adaptive Process-Aware Information Systems (PAIS) has emerged, which allows for dynamic process and service changes (e.g., to insert, delete, and move activities and service executions in a running process). This, in turn, has led to a large number of process variants

  15. Pathological assessment of mismatch repair gene variants in Lynch syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D; Royer-Pokora, Brigitte

    2012-01-01

    Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes and is the most prevalent hereditary colorectal cancer syndrome. A significant proportion of variants identified in MMR and other common cancer susceptibility genes are missense or noncoding changes whose...

  16. Variants in Pharmacokinetic Transporters and Glycaemic Response to Metformin

    DEFF Research Database (Denmark)

    Dujic, Tanja; Zhou, Kaixin; Yee, Sook Wah

    2017-01-01

    Therapeutic response to metformin, a first-line drug for type 2 diabetes (T2D), is highly variable, in part likely due to genetic factors. To date, metformin pharmacogenetic studies have mainly focused on the impact of variants in metformin transporters genes, with inconsistent results. To clarif...

  17. Network perturbation by recurrent regulatory variants in cancer.

    Directory of Open Access Journals (Sweden)

    Kiwon Jang

    2017-03-01

    Full Text Available Cancer driving genes have been identified as recurrently affected by variants that alter protein-coding sequences. However, a majority of cancer variants arise in noncoding regions, and some of them are thought to play a critical role through transcriptional perturbation. Here we identified putative transcriptional driver genes based on combinatorial variant recurrence in cis-regulatory regions. The identified genes showed high connectivity in the cancer type-specific transcription regulatory network, with high outdegree and many downstream genes, highlighting their causative role during tumorigenesis. In the protein interactome, the identified transcriptional drivers were not as highly connected as coding driver genes but appeared to form a network module centered on the coding drivers. The coding and regulatory variants associated via these interactions between the coding and transcriptional drivers showed exclusive and complementary occurrence patterns across tumor samples. Transcriptional cancer drivers may act through an extensive perturbation of the regulatory network and by altering protein network modules through interactions with coding driver genes.

  18. Human GRIN2B variants in neurodevelopmental disorders

    Directory of Open Access Journals (Sweden)

    Chun Hu

    2016-10-01

    Full Text Available The development of whole exome/genome sequencing technologies has given rise to an unprecedented volume of data linking patient genomic variability to brain disorder phenotypes. A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD, attention deficit hyperactivity disorder (ADHD, developmental delay, epilepsy, and schizophrenia. The GRIN2B gene plays a crucial role in normal neuronal development and is important for learning and memory. Mutations in human GRIN2B were distributed throughout the entire gene in a number of patients with various neuropsychiatric and developmental disorders. Studies that provide functional analysis of variants are still lacking, however current analysis of de novo variants that segregate with disease cases such as intellectual disability, developmental delay, ASD or epileptic encephalopathies reveal altered NMDAR function. Here, we summarize the current reports of disease-associated variants in GRIN2B from patients with multiple neurodevelopmental disorders, and discuss implications, highlighting the importance of functional analysis and precision medicine therapies.

  19. Interaction between 5 genetic variants and allergy in glioma risk

    DEFF Research Database (Denmark)

    Schoemaker, Minouk J; Robertson, Lindsay; Wigertz, Annette

    2010-01-01

    , CDKN2A-CDKN2B), 11q23.3 (rs498872, PHLDB1), and 20q13.33 (rs6010620, RTEL1) as determinants of glioma risk. The authors investigated whether there is interaction between the effects of allergy and these 5 variants on glioma risk. Data from 5 case-control studies carried out in Denmark, Finland, Sweden...

  20. Exact solutions for nonlinear variants of Kadomtsev–Petviashvili (n ...

    Indian Academy of Sciences (India)

    Studying compactons, solitons, solitary patterns and periodic solutions is important in nonlinear phenomena. In this paper we study nonlinear variants of the Kadomtsev–Petviashvili (KP) and the Korteweg–de Vries (KdV) equations with positive and negative exponents. The functional variable method is used to establish ...

  1. Una respuesta a Linz desde el presidencialismo

    Directory of Open Access Journals (Sweden)

    Daniela Lucía Vargas Moreno

    2014-07-01

    Full Text Available Este artículo es una reflexión descriptiva de las relaciones e interacciones que se establecen entre los poderes Ejecutivo y Legislativo en el sistema presidencial. Su objetivo principal es responder a la crítica de Juan José Linz hacia el presidencialismo a través del examen de los dos argumentos centrales del autor: la legitimidad democrática dual y la rigidez de los mandatos. A su vez, este escrito incorpora el estudio del sistema electoral, del sistema de partidos y del liderazgo político, y las dinámicas que se generan entre estos elementos debido al tipo de régimen. La conclusión apunta a que no se puede establecer un fracaso rotundo del presidencialismo sin antes considerar distintas variables que han incidido, particularmente, en el escenario latinoamericano.

  2. Visual Virtual MT: relato de una pesquisa

    Directory of Open Access Journals (Sweden)

    LUDMILA BRANDÃO

    2015-01-01

    Full Text Available Con el fin de contribuir a la discusión acerca de las artes visuales en la sociedad contemporánea y de los dispositivos que operan la colonialidad del arte, sus mecanismos y efectos, cuya urgente desactivación nos impone enormes retos, en este artículo se presentan los resultados de la investigación titulada: “Artes Visuales en Mato Grosso: recopilación, difusión y crítica” encargada de crear el sitio Visual Virtual MT (VVMT. El VVMT reúne producciones aestésicas visuales de artistas individuales y colectivos que operan en diferentes soportes y medios, trabajando con una variedad de materiales que configuran, actualmente, la mayor colección catalogada y digital disponible en el Estado de Mato Grosso, en Brasil.

  3. Memoria y olvido de una ministra anarquista

    Directory of Open Access Journals (Sweden)

    Ángel Herrerín López

    1998-01-01

    Full Text Available Este artículo analiza como la imagen histórica de Federica Montseny ha ido variando con el paso del tiempo. Para dicho análisis se utiliza una doble óptica: por un lado, la visión que nos aportan, a través de sus memorias, sus compañeros libertarios; y por otro, como es tratada, esa imagen, por la empresa publicista.This article analyses Federica Montseny's historical image which has changed throughout time. A double point of view is used to do it: On one, hand the visión that her anarchist colleagues provide thorugh their memories, and on the other hand, we can see the way that her image has been treated by the standard press.

  4. Impuestos verdes: una meta de equidad

    Directory of Open Access Journals (Sweden)

    Lilliana Arrieta Quesada

    2011-09-01

    Full Text Available Al considerar necesario incorporar a los grupos económicos en el gran proyecto de alcanzar metas de desarrollo sostenible, que surge como un nuevo paradigma al tomarse en consciencia por parte de los organismos internacionales, entre ellos las Naciones Unidas, de la necesidad de hacer un planteamiento de desarrollo económico diferente al convencional que considera aspectos ambientales y de equidad social, se admite por primera vez que la explotación de los recursos naturales y su transformación en materia prima y fuente energética, tiene límites, los cuales deben ser considerados en cualquier planteamiento serio de desarrollo económico.Es así como surge la tesis de los impuestos verdes como una opción que permita a los gobiernos incidir tanto en el mercado como en el sector industrial y en los hábitos de los consumidores.

  5. Melanoma lentiginoso acral en una paciente adulta

    Directory of Open Access Journals (Sweden)

    Yoandra Seara Govea

    Full Text Available Se presenta el caso clínico de una paciente ecuatoriana de 58 años, blanca, con antecedentes de hernias discales en regiones cervical y lumbar, quien hace 2 años asistió a la Consulta de Dermatología por presentar cambio de coloración en la uña del tercer dedo de la mano derecha, síntomas que se correspondían con un lentigo simple. En esta ocasión acude con destrucción de la lámina ungueal y aumento de la coloración que se extiende a todo el pulpejo del dedo, por lo cual se le realizó otra biopsia y se confirmó el diagnóstico histológico de melanoma lentiginoso acral (in situ

  6. Plan de Empresa para una ONG

    OpenAIRE

    Hernández Pumarega, David

    2005-01-01

    Hace 5 años un grupo de jóvenes universitarios creamos la Asociación Juvenil Soñar Despierto, una asociación benéfica cuya finalidad es involucrar a jóvenes, familias e instituciones en programas y proyectos de ayuda a niños de familias desestructuradas y/o sin recursos de nuestra comunidad. La idea empezó como el sueño utópico de 4 amigos y ha ido tomando forma y calando entre la sociedad. Hasta el punto de que en el año 2005 son más de 900 los voluntarios que han colaborado con nosotros ...

  7. Mercadeo verde de una empresa dorada

    Directory of Open Access Journals (Sweden)

    Carlos Mario Uribe-Saldarriaga

    2014-01-01

    Full Text Available El caso presenta la campaña de mercadeo realizada por Ecopetrol entre 2009 y 2012 para la introducción en Colombia del diésel ultra bajo de azufre denominado diésel limpio. Se examina la campaña desde 2 puntos de vista: el primero, el posicionamiento de Ecopetrol como una de las empresas más admiradas de Colombia, tanto por sus resultados financieros como por sus actividades en la responsabilidad social empresarial; el segundo, desde las exigencias que se hacen al mercadeo ambiental en los países desarrollados, especialmente con respecto al lavado verde, teniendo en cuenta a la vez que Ecopetrol opera en un país en vía de desarrollo donde existe un menor avance en las exigencias ambientales hechas por los grupos de interés.

  8. Hacia una pedagogía pacicultora

    Directory of Open Access Journals (Sweden)

    ALEXANDER LUIS ORTIZ OCAÑA

    2013-11-01

    Full Text Available En este artículo se demuestra científicamente que el Bachillerato Pacicultor1 es un modelo didáctico innovador y pertinente dentro del contexto de las políticas de atención educativa a la población vulnerable y desplazada, sustentado en los modelos educativos de la Escuela Nueva y la Escuela del Desarrollo Integral, basado en enfoques constructivistas, tendencias humanistas, teorías sociocríticas o histórico – culturales y corrientes cognitivas de aprendizajes significativos. Este enfoque sistémico y configuracional del bachillerato aporta elementos esenciales que permitirán configurar una Pedagogía Pacicultora.   

  9. Mercadeo verde de una empresa dorada

    Directory of Open Access Journals (Sweden)

    Carlos Mario Uribe-Saldarriaga

    2014-01-01

    Full Text Available El caso presenta la campa ̃ na de mercadeo realizada por Ecopetrol entre 2009 y 2012 para la introducción en Colombia del diésel ultra bajo de azufre denominado diésel limpio. Se examina la campa ̃ na desde 2 puntos de vista: el primero, el posicionamiento de Ecopetrol como una de las empresas más admiradas de Colombia, tanto por sus resultados financieros como por sus actividades en la responsabilidad social empresarial; el segundo, desde las exigencias que se hacen al mercadeo ambiental en los países desarro- llados, especialmente con respecto al lavado verde, teniendo en cuenta a la vez que Ecopetrol opera en un país en vía de desarrollo donde existe un menor avance en las exigencias ambientales hechas por los grupos de interés.

  10. Fibroma de ovario en una gestante joven

    Directory of Open Access Journals (Sweden)

    Martha Lazo Pérez

    2015-02-01

    Full Text Available Se presenta el caso clínico de una gestante de 24 años de edad, quien acudió al Cuerpo de Guardia del Hospital Provincial Ginecoobstétrico Docente "Mariana Grajales Coello" de Santiago de Cuba, por presentar dolor en la parte baja del vientre, además de náuseas y estreñimiento. Se consideró el diagnóstico de fibroma de ovario, que fue definitivo luego de intervenirle quirúrgicamente y realizar el estudio anatomopatológico. Posteriormente se mantuvo el seguimiento clínico en consulta externa; la paciente evolucionó favorablemente y mantuvo su embarazo hasta tener a su hijo -- un recién nacido sano y a término -- a través de parto eutócico

  11. Una memoria consensuada : El Informe Rettig

    OpenAIRE

    Camacho Padilla, Fernando

    2004-01-01

    No cabe duda que hoy día la memoria de la dictadura militar (1973-1990) está presente en la vida cotidiana de Chile más que ningún otro periodo histórico. La razón se encuentra en los trágicos sucesos que se vivieron duran- te esos años en materia de derechos humanos. Don Patricio Aylwin, primer presidente electo democráticamente en tras 17 años de autoritarismo y una figura comprometida con los derechos humanos, era consciente de la necesi- dad de investigar la verdad de los crímenes de lesa...

  12. Una historia de Arlequín

    Directory of Open Access Journals (Sweden)

    Arturo Laguado

    1966-06-01

    Full Text Available Entre los personajes vivos del teatro universal y de la vida real existe una transmutación frecuente; de la misma manera que algunos hombres abandonan su identidad para convertirse en tipos ideales, ciertos personajes ficticios adquieren todas las características de los seres humanos. Unos y otros conforman esa teoría de valores que nos ayudan a juzgar, a compararnos, y a comprender la realidad. En el momento en que el personaje entra a constituír un mito, su existencia física parece innecesaria: vivo o muerto, real o ficticio, sabemos que su imagen no podrá variar, que pertenece al futuro, a ese tiempo que no habremos de conocer.

  13. Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

    Directory of Open Access Journals (Sweden)

    Laura Ibanez

    2018-04-01

    Full Text Available Background: The prevalence of dementia in Parkinson disease (PD increases dramatically with advancing age, approaching 80% in patients who survive 20 years with the disease. Increasing evidence suggests clinical, pathological and genetic overlap between Alzheimer disease, dementia with Lewy bodies and frontotemporal dementia with PD. However, the contribution of the dementia-causing genes to PD risk, cognitive impairment and dementia in PD is not fully established.Objective: To assess the contribution of coding variants in Mendelian dementia-causing genes on the risk of developing PD and the effect on cognitive performance of PD patients.Methods: We analyzed the coding regions of the amyloid-beta precursor protein (APP, Presenilin 1 and 2 (PSEN1, PSEN2, and Granulin (GRN genes from 1,374 PD cases and 973 controls using pooled-DNA targeted sequence, human exome-chip and whole-exome sequencing (WES data by single variant and gene base (SKAT-O and burden tests analyses. Global cognitive function was assessed using the Mini-Mental State Examination (MMSE or the Montreal Cognitive Assessment (MoCA. The effect of coding variants in dementia-causing genes on cognitive performance was tested by multiple regression analysis adjusting for gender, disease duration, age at dementia assessment, study site and APOE carrier status.Results: Known AD pathogenic mutations in the PSEN1 (p.A79V and PSEN2 (p.V148I genes were found in 0.3% of all PD patients. There was a significant burden of rare, likely damaging variants in the GRN and PSEN1 genes in PD patients when compared with frequencies in the European population from the ExAC database. Multiple regression analysis revealed that PD patients carrying rare variants in the APP, PSEN1, PSEN2, and GRN genes exhibit lower cognitive tests scores than non-carrier PD patients (p = 2.0 × 10−4, independent of age at PD diagnosis, age at evaluation, APOE status or recruitment site.Conclusions: Pathogenic mutations in

  14. Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Pfeiffer Ronald F

    2010-04-01

    Full Text Available Abstract Background Mitochondrial function is impaired in Parkinson's disease (PD and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD. Methods We examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168 multiplex PD families in which the proband and one parent were diagnosed with PD. 2-tailed Fisher Exact Tests and McNemar's tests were used to compare allele frequencies, and a t-test to compare ages of onset. Results The frequency of affected mothers of the proband with PD (83/167, 49.4% was not significantly different from the frequency of affected females of the proband generation (115/259, 44.4% (Odds Ratio 1.22; 95%CI 0.83 - 1.81. After correcting for multiple tests, there were no significant differences in the frequencies of mitochondrial haplogroups or of the 10398G complex I gene polymorphism in PD patients compared to controls, and no significant associations with age of onset of PD. Mitochondrial haplogroup and 10398G polymorphism frequencies were similar in probands having an affected father as compared to probands having an affected mother. Conclusions These data fail to demonstrate a bias towards maternal inheritance in familial PD. Consistent with this, we find no association of common haplogroup-defining mtDNA variants or for the 10398G variant with the risk of PD. However, these data do not exclude a role for mtDNA variants in other populations, and it remains possible that other inherited mitochondrial DNA variants, or somatic m

  15. La imagen: una venta en silencio

    Directory of Open Access Journals (Sweden)

    Harold Silva Guerra

    2014-01-01

    Full Text Available Uno de los aspectos más importantes y que más gravita en el éxito financiero de una empresa es su imagen. Por eso, el manejo de la misma, es trascendental, porque no solo se debe pretender que sea competitiva, sino que armonice con la responsabilidad social y ambiental del todo el entorno, y que siempre sea recordada por los clientes, con gratitud y que permanezca en el universo de suspreferencias. Para ello, deben comulgar tantas cosas positivas que van desde el buen servicio al cliente, pasando por la calidad de productos que se ofrecen, hasta el impacto que cause en los compradores los símbolos cuidadosamente elegidos los cuales contribuyan a una fijación mental positiva y duradera.Palabras clave: Imagen; identidad; reputación; cliente.The image: a sale in silenceAbstrac One of the most important aspects, which supports the financial success of a company, is its image. Therefore, the management of it, is transcendental, as it does not only pretend to be competitive, but also that harmonize with the social and environmental responsibility of the whole surroundings, and that it always will be remembered by customers, with gratitude and remain in the universe of their preferences. for that many positive things must coincide, ranging from good customer service, to the quality of products offered, to the impact cause on the buyers the carefully chosen symbols, which contribute to a positive and lasting mental fixation.Keywords: Image; identity; reputation; customer.

  16. UNA ACUSTEMOLOGÍA DE LA SELVA TROPICAL

    OpenAIRE

    FELD, STEVEN

    2013-01-01

    Este texto tiene por objeto darle voz a un tipo de realidad alterna, a un tipo de sensibilidad sonora que he encontrado a través de la investigación antropológica de una ecología del lenguaje, la música y la acústica. La esperanza es que, al dar a las voces marginadas espacios desde donde hablar, gritar y cantar, la antropología podrá contrarrestar en alguna medida la arraigada arrogancia de la autoridad colonial e imperial, de la historia escrita en una sola lengua, a una sola voz, como una ...

  17. Una parodia de lo adverso: Buena Vida (delivery.

    Directory of Open Access Journals (Sweden)

    Nicolás Ocaranza

    2006-08-01

    Full Text Available Hernán es un joven empleado en una pequeña empresa de reparto a domicilio (delivery. Mientras recorre los suburbios de la ciudad de Buenos Aires en su vieja motocicleta conoce a Patricia, quien trabaja en una estación de gasolina desde hace un tiempo. Hasta ese momento todo parece confluir en una esperada fórmula de amor de juventud entre un repartidor y su pretendiente. Pero cuando Hernán le ofrece a Patricia el alquiler de una habitación de su hogar la historia toma un destino insospechad...

  18. Un nuevo orden mundial, una ética universal, una nueva educación

    Directory of Open Access Journals (Sweden)

    Amparo MARTÍNEZ SÁNCHEZ

    2009-11-01

    Full Text Available RESUMEN: Este artículo ofrece unas reflexiones sobre la urgencia de establecer un nuevo orden mundial que exige: «una ética universal», «una nueva educación», «un mundo en paz». Se subraya que es necesaria una educación que esté al servicio: del desarrollo económico de los pueblos, particularmente de los pueblos del Sur; de la justicia cultural global y del diálogo de civilizaciones; de la democratización de todas las sociedades. Una educación que tenga como base un humanismo de carácter universal. Se concluye apuntando que la tarea social más urgente consiste en activar una nueva conciencia y unos nuevos actores sociales que fortalezcan los vínculos humanos en el nuevo escenario de la mundialización.ABSTRACT: This article offers some reflections on the urgency of establishing a new world order that calls for: «a universal ethic», «a new education», «a peaceful world». It emphasises the importance of education that serves: economic development of communities, particularly those in the South; global cultural justice and dialogue between civilisations; démocratisation of all societies. Education based on universal humanity. The conclusion demonstrates that the most urgent social task is to activate a new social conscience, and new social actors to strengthen human bonds in the current scenario of globalisation.RÉSUMÉ: Cet article offre une réflexion sur l'urgence d'établir un nouvel ordre mondial exigeant: une éthique universelle, une nouvelle éducation, un monde en paix. L'article met en évidence la nécessité d'une éducation au service du développement économique des peuples, en particulier des peuples du Sud; de la justice culturelle globale et du dialogue entre civilisations; de la démocratisation de toutes les sociétés. Une nouvelle éducation ayant comme base un humanisme universel. La conclusion démontre que la tâche sociale la plus urgente est celle d'activer une nouvelle conscience et des nouveaux

  19. Benchmarking distributed data warehouse solutions for storing genomic variant information

    Science.gov (United States)

    Wiewiórka, Marek S.; Wysakowicz, Dawid P.; Okoniewski, Michał J.

    2017-01-01

    Abstract Genomic-based personalized medicine encompasses storing, analysing and interpreting genomic variants as its central issues. At a time when thousands of patientss sequenced exomes and genomes are becoming available, there is a growing need for efficient database storage and querying. The answer could be the application of modern distributed storage systems and query engines. However, the application of large genomic variant databases to this problem has not been sufficiently far explored so far in the literature. To investigate the effectiveness of modern columnar storage [column-oriented Database Management System (DBMS)] and query engines, we have developed a prototypic genomic variant data warehouse, populated with large generated content of genomic variants and phenotypic data. Next, we have benchmarked performance of a number of combinations of distributed storages and query engines on a set of SQL queries that address biological questions essential for both research and medical applications. In addition, a non-distributed, analytical database (MonetDB) has been used as a baseline. Comparison of query execution times confirms that distributed data warehousing solutions outperform classic relational DBMSs. Moreover, pre-aggregation and further denormalization of data, which reduce the number of distributed join operations, significantly improve query performance by several orders of magnitude. Most of distributed back-ends offer a good performance for complex analytical queries, while the Optimized Row Columnar (ORC) format paired with Presto and Parquet with Spark 2 query engines provide, on average, the lowest execution times. Apache Kudu on the other hand, is the only solution that guarantees a sub-second performance for simple genome range queries returning a small subset of data, where low-latency response is expected, while still offering decent performance for running analytical queries. In summary, research and clinical applications that require

  20. Rare variants in ischemic stroke: an exome pilot study.

    Directory of Open Access Journals (Sweden)

    John W Cole

    Full Text Available The genetic architecture of ischemic stroke is complex and is likely to include rare or low frequency variants with high penetrance and large effect sizes. Such variants are likely to provide important insights into disease pathogenesis compared to common variants with small effect sizes. Because a significant portion of human functional variation may derive from the protein-coding portion of genes we undertook a pilot study to identify variation across the human exome (i.e., the coding exons across the entire human genome in 10 ischemic stroke cases. Our efforts focused on evaluating the feasibility and identifying the difficulties in this type of research as it applies to ischemic stroke. The cases included 8 African-Americans and 2 Caucasians selected on the basis of similar stroke subtypes and by implementing a case selection algorithm that emphasized the genetic contribution of stroke risk. Following construction of paired-end sequencing libraries, all predicted human exons in each sample were captured and sequenced. Sequencing generated an average of 25.5 million read pairs (75 bp×2 and 3.8 Gbp per sample. After passing quality filters, screening the exomes against dbSNP demonstrated an average of 2839 novel SNPs among African-Americans and 1105 among Caucasians. In an aggregate analysis, 48 genes were identified to have at least one rare variant across all stroke cases. One gene, CSN3, identified by screening our prior GWAS results in conjunction with our exome results, was found to contain an interesting coding polymorphism as well as containing excess rare variation as compared with the other genes evaluated. In conclusion, while rare coding variants may predispose to the risk of ischemic stroke, this fact has yet to be definitively proven. Our study demonstrates the complexities of such research and highlights that while exome data can be obtained, the optimal analytical methods have yet to be determined.

  1. Cerivastatin, Genetic Variants, and the Risk of Rhabdomyolysis

    Science.gov (United States)

    Marciante, Kristin D.; Durda, Jon P.; Heckbert, Susan R.; Lumley, Thomas; Rice, Ken; McKnight, Barbara; Totah, Rheem A.; Tamraz, Bani; Kroetz, Deanna L.; Fukushima, Hisayo; Kaspera, Rüdiger; Bis, Joshua C.; Glazer, Nicole L.; Li, Guo; Austin, Thomas R.; Taylor, Kent D.; Rotter, Jerome I.; Jaquish, Cashell E.; Kwok, Pui-Yan; Tracy, Russell P.; Psaty, Bruce M.

    2011-01-01

    Objective The withdrawal of cerivastatin involved an uncommon but serious adverse reaction, rhabdomyolysis. The bimodal response--rhabdomyolysis in a small proportion of users-- points to genetic factors as a potential cause. We conducted a case-control study to evaluate genetic markers for cerivastatin-associated rhabdomyolysis. Methods The study had two components: a candidate gene study to evaluate variants in CYP2C8, UGT1A1, UGT1A3, and SLCO1B1; and a genome-wide association (GWA) study to identify risk factors in other regions of the genome. 185 rhabdomyolysis cases were frequency matched to statin-using controls from the Cardiovascular Health Study (n=374) and the Heart and Vascular Health Study (n=358). Validation relied on functional studies. Results Permutation test results suggested an association between cerivastatin-associated rhabdomyolysis and variants in SLCO1B1 (p = 0.002), but not variants in CYP2C8 (p = 0.073) or the UGTs (p = 0.523). An additional copy of the minor allele of SLCO1B1 rs4149056 (p.Val174Ala) was associated with the risk of rhabdomyolysis (OR: 1.89, 95% CI: 1.40 to 2.56). In transfected cells, this variant reduced cerivastatin transport by 40% compared with the reference transporter (p rhabdomyolysis (OR: 0.48; 95% CI: 0.36 to 0.63). Conclusion We identified modest genetic risk factors for an extreme response to cerivastatin. Disabling genetic variants in the candidate genes were not responsible for the bimodal response to cerivastatin. PMID:21386754

  2. Time-variant reliability assessment through equivalent stochastic process transformation

    International Nuclear Information System (INIS)

    Wang, Zequn; Chen, Wei

    2016-01-01

    Time-variant reliability measures the probability that an engineering system successfully performs intended functions over a certain period of time under various sources of uncertainty. In practice, it is computationally prohibitive to propagate uncertainty in time-variant reliability assessment based on expensive or complex numerical models. This paper presents an equivalent stochastic process transformation approach for cost-effective prediction of reliability deterioration over the life cycle of an engineering system. To reduce the high dimensionality, a time-independent reliability model is developed by translating random processes and time parameters into random parameters in order to equivalently cover all potential failures that may occur during the time interval of interest. With the time-independent reliability model, an instantaneous failure surface is attained by using a Kriging-based surrogate model to identify all potential failure events. To enhance the efficacy of failure surface identification, a maximum confidence enhancement method is utilized to update the Kriging model sequentially. Then, the time-variant reliability is approximated using Monte Carlo simulations of the Kriging model where system failures over a time interval are predicted by the instantaneous failure surface. The results of two case studies demonstrate that the proposed approach is able to accurately predict the time evolution of system reliability while requiring much less computational efforts compared with the existing analytical approach. - Highlights: • Developed a new approach for time-variant reliability analysis. • Proposed a novel stochastic process transformation procedure to reduce the dimensionality. • Employed Kriging models with confidence-based adaptive sampling scheme to enhance computational efficiency. • The approach is effective for handling random process in time-variant reliability analysis. • Two case studies are used to demonstrate the efficacy

  3. MÁS QUE UNA SUMA DE CASAS: LA UNIDAD VECINAL VILLA SAN PEDRO DE CORONEL

    Directory of Open Access Journals (Sweden)

    Stéphane Franck Demiddel

    2009-01-01

    Full Text Available Con el desarrollo industrial de la provincia, parcialmente promovido por la Corporación de Fomento, CORFO, desde el terremoto de 1939, y la construcción de la planta CAP-Huachipato en 1950, la CORVI buscó construir un conjunto para satisfacer la creciente necesidad habitacional. El terremoto de 1960 incorporó, indudablemente, una extrema urgencia al encargo. Por el particular entorno geográfico de la ciudad de Concepción, la institución se enfrentó a la escasez de terrenos baratos cercanos a Concepción, por lo que consideró un área perteneciente a la comuna de Coronel, pero, por su ubicación e importancia, era considerada como parte integrante de Concepción. Otro aspecto relevante es el fundamento o discurso político que incorporaba la Unidad Vecinal, seguramente fomentado por el terremoto político causado por la revolución cubana de 1959 y el remezón que produjo en la política de EE.UU. frente a los países latinoamericanos. Los arquitectos Raúl Farrú y Enrique Porte se encargaron del diseño de este particular proyecto habitacional que ofrecía 1.918 alojamientos, repartidos entre viviendas unifamiliares y departamentos. Con este proyecto, sea por el diseño arquitectónico y urbano, o por la política de selección de usuarios, la CORVI implementó una forma de crear una nueva ciudad, el paso inicial de un proyecto mayor. La permanencia, o sobrevivencia, de algunos servicios, como los colegios y algunos comercios, demostraron el logro y éxito de la propuesta de la CORVI, que iba mucho mas allá del diseño físico ya que incorporaba otra variante bastante más compleja como el uso o la función. Esta diversidad de funciones y actividades, en conjunto con la oferta habitacional, convirtieron, finalmente, este proyecto en una ciudad satélite prácticamente autónoma.

  4. La vagina dentada: una interpretación de la Estela 25 de Izapa y las guacamayas del juego de pelota de Copán

    OpenAIRE

    Chinchilla Mazariegos, Oswaldo

    2010-01-01

    Las aves representadas en la Estela 25 de Izapa y el juego de pelota de Copán forman el punto de partida para un examen del tema mitológico de la vagina dentada en Mesoamérica, y sus expresiones en el arte y la narrativa. Un amplio conjunto de narraciones mitológicas recopiladas en México y Guatemala sirve como base para un examen de la historia de Siete Guacamayo en el Popol Vuh, la cual se interpreta como una variante de un mito ampliamente difundido, relacionado con el origen del Sol y la ...

  5. Implementación de una solución de Business Intelligence en una unidad de negocios de cobranzas de una entidad financiera

    OpenAIRE

    Calderón Ccatamayo, Magaly; Calderón Ccatamayo, Magaly

    2014-01-01

    El presente informe describe la implementación de una solución de Business Intelligence en una unidad de negocios de Cobranzas de una entidad financiera, utilizando un conjunto de metodologías y herramientas automatizadas de Business Intelligence. Los objetivos del proyecto presentado en este informe son facilitar a los usuarios de Cobranzas el análisis de la información, la toma de decisiones y las definiciones de estrategias acertadas, mejorando de esta forma la gestión y seguimiento del...

  6. Identificação de variantes de hemoglobina em doadores de sangue Identification of hemoglobin variants in blood donor

    Directory of Open Access Journals (Sweden)

    Ana C. Bonini-Domingos

    2004-03-01

    Full Text Available Hemoglobinopathies are the most common genetic diseases and affect a great number of individuals in the world, with diverse clinical complications ranging from the almost unnoticeable to lethal consequences. In Brazil the occurrence of hemoglobinopathies is very frequent and influenced by the ethnical groups that are the basis of populations in different regions. The phenotype may be influenced by environmental and genetic factors and by migration. An understanding of these genetic diseases is important for the health and quality of life of the population. In this work we assessed the presence of Hb variants in blood donors from São José do Rio Preto and region, and we observed the occurrence of variants including Hb S and Hb C but in particular the so-called "S-Like" variants. Good determination of the forms of variant hemoglobins is very important to give better guidance to blood donors and their families, and to improve the quality of blood transfusion.

  7. Molecular and clinical characteristics of MSH6 variants : An analysis of 25 index carriers of a germline variant

    NARCIS (Netherlands)

    Olderode - Berends, Maria; Wu, Ying; Sijmons, RH; Mensink, RGJ; van der Sluis, T; Hordijk-Hos, JM; de Vries, EGE; Hollema, H; Karrenbeld, Arend; Buys, CHCM; van der Zee, AGJ; Hofstra, RMW; Kleibeuker, JH

    The MSH6 gene is one of the mismatch-repair genes involved in hereditary nonpolyposis colorectal cancer (HNPCC). Three hundred sixteen individuals who were known or suspected to have HNPCC were analyzed for MSH6 germline mutations. For 25 index patients and 8 relatives with MSH6 variants, molecular

  8. Ricavare un'opera viva da una soffitta: scrittura e teatro in balia di una cura

    Directory of Open Access Journals (Sweden)

    Elena Uber

    2008-04-01

    Full Text Available Il laboratorio di scrittura della Soffitta dura dall’autunno 2005 alla primavera 2006. In quell’anno l’Unità Operativa in cui lavoro, appartenendo diversi suoi operatori alla Società Italiana per lo Studio dei Comportamenti Alimentari (S.I.S.D.C.A., assume l’impegno di organizzare a Piacenza uno dei convegni nazionali annuali della Società stessa. Sulla scorta d’un consolidato piacere della mia équipe di valorizzare le risorse espressive dei suoi membri, progetto d’allestire con la collaborazione di un gruppo teatrale piacentino uno spettacolo a partire dal testo prodotto con il gruppo. Quest’ultimo viene rielaborato e ne viene ricavata una drammaturgia dove la soffitta diviene la stiva d’una nave nella quale A., la protagonista, compirà il suo viaggio “verso il mondo che l’aspetta là fuori”.

  9. Arqueología y cine: distorsiones de una ciencia y una profesión

    Directory of Open Access Journals (Sweden)

    Carlos Tejerizo García

    2011-06-01

    Full Text Available Sólo en los últimos años la investigación arqueológica se ha dirigido a analizar la relación de esta ciencia con el contexto social, político o económico actual. La grave distorsión que existe entre la imagen de la Arqueología de los profesionales y la imagen social es tratada a través de una treintena de películas analizando, igualmente, las consecuencias que en el mundo académico, educativo y profesional tienen este tipo de distorsiones. Finalmente, se propone una Arqueología “militante” basada en algunos postulados de la Teoría Crítica y el materialismo dialéctico como solución a este distanciamiento entre la Arqueología y la sociedad.

  10. Delineation of concentration ranges and longitudinal changes of human plasma protein variants.

    Directory of Open Access Journals (Sweden)

    Olgica Trenchevska

    Full Text Available Human protein diversity arises as a result of alternative splicing, single nucleotide polymorphisms (SNPs and posttranslational modifications. Because of these processes, each protein can exists as multiple variants in vivo. Tailored strategies are needed to study these protein variants and understand their role in health and disease. In this work we utilized quantitative mass spectrometric immunoassays to determine the protein variants concentration of beta-2-microglobulin, cystatin C, retinol binding protein, and transthyretin, in a population of 500 healthy individuals. Additionally, we determined the longitudinal concentration changes for the protein variants from four individuals over a 6 month period. Along with the native forms of the four proteins, 13 posttranslationally modified variants and 7 SNP-derived variants were detected and their concentration determined. Correlations of the variants concentration with geographical origin, gender, and age of the individuals were also examined. This work represents an important step toward building a catalog of protein variants concentrations and examining their longitudinal changes.

  11. VPA: an R tool for analyzing sequencing variants with user-specified frequency pattern

    Directory of Open Access Journals (Sweden)

    Hu Qiang

    2012-01-01

    Full Text Available Abstract Background The massive amounts of genetic variant generated by the next generation sequencing systems demand the development of effective computational tools for variant prioritization. Findings VPA (Variant Pattern Analyzer is an R tool for prioritizing variants with specified frequency pattern from multiple study subjects in next-generation sequencing study. The tool starts from individual files of variant and sequence calls and extract variants with user-specified frequency pattern across the study subjects of interest. Several position level quality criteria can be incorporated into the variant extraction. It can be used in studies with matched pair design as well as studies with multiple groups of subjects. Conclusions VPA can be used as an automatic pipeline to prioritize variants for further functional exploration and hypothesis generation. The package is implemented in the R language and is freely available from http://vpa.r-forge.r-project.org.

  12. MODELO MATEMÁTICO DEL TRANSPORTE DE UNA TOXINA EN UNA RED TRÓFICA MARINA

    Directory of Open Access Journals (Sweden)

    Daniel Arbeláez A.

    2014-07-01

    Full Text Available Algunos casos de intoxicación por consumo de peces contaminados, como la intoxicación por ciguatera, ocurren inesperadamente y no son fáciles de detectar previamente, dado que los peces que portan la toxina no presentan aspecto y/o síntomas de enfermos. En este trabajo proponemos un modelo matemático para el transporte y acumulación de una toxina a través de una cadena alimentaria. El modelo se plantea mediante un sistema rígido de ecuaciones diferenciales que describen la dinámica. Se analiza la estabilidad local de la solución de equilibrio. Se discuten diferentes escenarios de aparición de brotes de una toxina a partir de simulaciones numéricas obtenidas mediante un esquema de discretización que combina un método de Runge-Kutta de tercer orden y la regla del trapecio, evitando la rigidez del sistema. Los resultados muestran que el tiempo que tarda en desaparecer la toxina en la red trófica depende del estado en que se encuentra la dinámica poblacional al momento del brote. Esta información puede emplearse para establecer un tiempo de veda en la pesca de tal manera que la toxina se reduzca a niveles inocuos para la salud humana.

  13. Herraminetas matematicas para ña valoración de la ampliación de una infraestructura portuaria

    Directory of Open Access Journals (Sweden)

    Juan Carlos Pérez

    2002-01-01

    Full Text Available Nuestro problema consiste en la valoración de un proyecto de ampliación de una infraestructura portuaria, concretada en tres nuevos muelles, que conlleva una inversión a largo plazo. Para ello es necesario recurrir a instrumentos de análisis capaces de sistematizar, en la medida de lo posible, la incertidumbre que sobre el futuro provocan aspectos como la evolución de los tráficos de mercancías, el efecto de la competencia entre los puertos, etc. que los métodos tradicionales no aproximan en toda su dimensión. Existe, además, un problema de decisión de política óptima de gestión del proyecto que depende de variables de decisión que modelizan las opciones presentes en el mismo. En nuestra propuesta utilizamos ecuaciones estocásticas para modelizar la dinámica temporal de cada tráfico, las cuales introducen la incertidumbre sobre el tráfico futuro y otros elementos. Usamos una variante del método de Montecarlo para la generación de diferentes escenarios. El método proporciona una distribución de probabilidad de los escenarios, otra de los flujos de caja y el Valor Actual Neto esperado asociado a cada escenario. Por último, para la decisión sobre la fecha óptima de ejecución de cada muelle, o su desestimación, proponemos un metaheurístico basado en la Búsqueda Dispersa.

  14. Using Extreme Phenotype Sampling to Identify the Rare Causal Variants of Quantitative Traits in Association Studies

    OpenAIRE

    Li, Dalin; Lewinger, Juan Pablo; Gauderman, William J.; Murcray, Cassandra Elizabeth; Conti, David

    2011-01-01

    Variants identified in recent genome-wide association studies based on the common-disease common-variant hypothesis are far from fully explaining the hereditability of complex traits. Rare variants may, in part, explain some of the missing hereditability. Here, we explored the advantage of the extreme phenotype sampling in rare-variant analysis and refined this design framework for future large-scale association studies on quantitative traits. We first proposed a power calculation approach fo...

  15. Common Genetic Variants Found in HLA and KIR Immune Genes in Autism Spectrum Disorder

    OpenAIRE

    Torres, Anthony R.; Sweeten, Thayne L.; Johnson, Randall C.; Odell, Dennis; Westover, Jonna B.; Bray-Ward, Patricia; Ward, David C.; Davies, Christopher J.; Thomas, Aaron J.; Croen, Lisa A.; Benson, Michael

    2016-01-01

    The common variant - common disease hypothesis was proposed to explain diseases with strong inheritance. This model suggests that a genetic disease is the result of the combination of several common genetic variants. Common genetic variants are described as a 5% frequency differential between diseased versus matched control populations. This theory was recently supported by an epidemiology paper stating that about 50% of genetic risk for autism resides in common variants. However, rare va...

  16. Processi e temi per una smartculturalcity

    Directory of Open Access Journals (Sweden)

    Marco Gaiani

    2013-12-01

    Full Text Available ItIn questo contributo si assume il concetto di ‘Smart City’ come paradigma per sottolineare l’importanza che riveste l’Information Technology (IT di prima e seconda generazione ai fini del miglioramento del profilo competitivo di una città, soprattutto per ciò che riguarda il patrimonio culturale in essa contenuto. Si estende così il costrutto di William Mitchell dalla città al patrimonio culturale precisando, anche attraverso alcune esemplificazioni, come le Smart IT modifichino profondamente le modalità di trasmissione, acquisizione e produzione della conoscenza trasformando quest’ultima in un fattore di sviluppo economico, sociale e culturale. Non secondariamente esse contribuiscono alla soluzione di problemi tipici dei processi connessi al lifecycle dei beni culturali: la loro conservazione, fruizione, comunicazione e gestione, nonché quelli connessi alla grande quantità di dati e alla loro eterogeneità. Infine, i nuovi sistemi come l’Internet of Things o il fenomeno dello User Generated Content permettono di concepire i beni culturali come ‘smart cultural objects’ e la generazione di conoscenza da parte degli utenti. Tutto ciò, se da una parte amplifica le possibilità di interazione tra soggetti e oggetti della conoscenza, dall’altra ne modifica radicalmente le modalità. Questo deve sollecitare le Università, le Istituzioni culturali e le Imprese a collaborare, nel prossimo futuro, sugli usi possibili delle soluzioni tecnologiche prospettate, in vista dell’affermazione di una più consapevole e partecipata cultura della sostenibilità del nostro patrimonio culturale.EnThis contribution takes the concept of ' Smart City ' as a paradigm in order to underline the importance of first and second generation of Information Technology (IT for the purpose of improving the competitiveness of a city, especially for what concerns its Cultural Heritage (CH. We extends so the construct of William Mitchell from the city to

  17. A Burkholderia pseudomallei colony variant necessary for gastric colonization.

    Science.gov (United States)

    Austin, C R; Goodyear, A W; Bartek, I L; Stewart, A; Sutherland, M D; Silva, E B; Zweifel, A; Vitko, N P; Tuanyok, A; Highnam, G; Mittelman, D; Keim, P; Schweizer, H P; Vázquez-Torres, A; Dow, S W C; Voskuil, M I

    2015-02-03

    Diverse colony morphologies are a hallmark of Burkholderia pseudomallei recovered from infected patients. We observed that stresses that inhibit aerobic respiration shifted populations of B. pseudomallei from the canonical white colony morphotype toward two distinct, reversible, yet relatively stable yellow colony variants (YA and YB). As accumulating evidence supports the importance of B. pseudomallei enteric infection and gastric colonization, we tested the response of yellow variants to hypoxia, acidity, and stomach colonization. Yellow variants exhibited a competitive advantage under hypoxic and acidic conditions and alkalized culture media. The YB variant, although highly attenuated in acute virulence, was the only form capable of colonization and persistence in the murine stomach. The accumulation of extracellular DNA (eDNA) was a characteristic of YB as observed by 4',6-diamidino-2-phenylindole (DAPI) staining of gastric tissues, as well as in an in vitro stomach model where large amounts of eDNA were produced without cell lysis. Transposon mutagenesis identified a transcriptional regulator (BPSL1887, designated YelR) that when overexpressed produced the yellow phenotype. Deletion of yelR blocked a shift from white to the yellow forms. These data demonstrate that YB is a unique B. pseudomallei pathovariant controlled by YelR that is specifically adapted to the harsh gastric environment and necessary for persistent stomach colonization. Seemingly uniform populations of bacteria often contain subpopulations that are genetically identical but display unique characteristics which offer advantages when the population is faced with infrequent but predictable stresses. The pathogen Burkholderia pseudomallei is capable of forming several reversible colony types, and it interconverted between one white type and two yellow types under certain environmental stresses. The two yellow forms exhibited distinct advantages in low-oxygen and acidic environments. One yellow

  18. TDP-43 protein variants as biomarkers in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Williams, Stephanie M; Khan, Galam; Harris, Brent T; Ravits, John; Sierks, Michael R

    2017-01-25

    TDP-43 aggregates accumulate in individuals affected by amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases, representing potential diagnostic and therapeutic targets. Using an atomic force microscopy based biopanning protocol developed in our lab, we previously isolated 23 TDP-43 reactive antibody fragments with preference for human ALS brain tissue relative to frontotemporal dementia, a related neurodegeneration, and healthy samples from phage-displayed single chain antibody fragment (scFv) libraries. Here we further characterize the binding specificity of these different scFvs and identify which ones have promise for detecting ALS biomarkers in human brain tissue and plasma samples. We developed a sensitive capture ELISA for detection of different disease related TDP-43 variants using the scFvs identified from the ALS biopanning. We show that a wide variety of disease selective TDP-43 variants are present in ALS as the scFvs show different reactivity profiles amongst the ALS cases. When assaying individual human brain tissue cases, three scFvs (ALS-TDP6, ALS-TDP10 and ALS-TDP14) reacted with all the ALS cases and 12 others reacted with the majority of the ALS cases, and none of the scFvs reacted with any control samples. When assaying individual human plasma samples, 9 different scFvs reacted with all the sporadic ALS samples and again none of them reacted with any control samples. These 9 different scFvs had different patterns of reactivity with plasma samples obtained from chromosome 9 open reading frame 72 (c9orf72) cases indicating that these familial ALS genetic variants may display different TDP-43 pathology than sporadic ALS cases. These results indicated that a range of disease specific TDP-43 variants are generated in ALS patients with different variants being generated in sporadic and familial cases. We show that a small panel of scFvs recognizing different TDP-43 variants can generate a neuropathological and plasma biomarker

  19. Enzyme activities and antibiotic susceptibility of colonial variants of Bacillus subtilis and Bacillus licheniformis.

    OpenAIRE

    Carlisle, G E; Falkinham, J O

    1989-01-01

    A nonmucoid colonial variant of a mucoid Bacillus subtilis strain produced less amylase activity and a transparent colonial variant of a B. licheniformis strain produced less protease activity compared with their parents. Antibiotic susceptibility patterns of the colonial variants differed, and increased resistance to beta-lactam antibiotics was correlated with increased production of extracellular beta-lactamase.

  20. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

    NARCIS (Netherlands)

    Goldgar, D.E.; Easton, D.F.; Byrnes, G.B.; Spurdle, A.B.; Iversen, E.S.; Greenblatt, M.S.; Boffetta, P.; Couch, F.J.; Wind, N. de; Eccles, D.; Foulkes, W.D.; Genuardi, M.; Hofstra, R.M.; Hogervorst, F.; Hoogerbrugge-van der Linden, N.; Plon, S.E.; Radice, P.; Rasmussen, L.; Sinilnikova, O.M.; Tavtigian, S.V.

    2008-01-01

    Genetic testing often results in the finding of a variant whose clinical significance is unknown. A number of different approaches have been employed in the attempt to classify such variants. For some variants, case-control, segregation, family history, or other statistical studies can provide

  1. Compositions and methods comprising cellulase variants with reduced affinity to non-cellulosic materials

    Energy Technology Data Exchange (ETDEWEB)

    Cascao-Pereira, Luis; Kaper, Thijs; Kelemen, Bradley R.; Liu, Amy D.

    2017-07-04

    The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having reduced binding to non-cellulosic materials. Also described are nucleic acids encoding the cellulase, compositions comprising said cellulase, methods of identifying cellulose variants and methods of using the compositions.

  2. Compositions and methods comprising cellulase variants with reduced affinity to non-cellulosic materials

    Science.gov (United States)

    Cascao-Pereira, Luis G.; Kaper, Thijs; Kelemen, Bradley R; Liu, Amy D.

    2012-08-07

    The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having reduced binding to non-cellulosic materials. Also described are nucleic acids encoding the cellulase, compositions comprising said cellulase, methods of identifying cellulose variants and methods of using the compositions.

  3. Compositions and methods comprising cellulase variants with reduced affinity to non-cellulosic materials

    Energy Technology Data Exchange (ETDEWEB)

    Cascao-Pereira, Luis G; Kaper, Thijs; Kelemen, Bradley R; Liu, Amy D

    2015-04-07

    The present disclosure relates to cellulase variants. In particular the present disclosure relates to cellulase variants having reduced binding to non-cellulosic materials. Also described are nucleic acids encoding the cellulase, compositions comprising said cellulase, methods of identifying cellulose variants and methods of using the compositions.

  4. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

    DEFF Research Database (Denmark)

    Paulussen, Aimee D C; Steyls, Anja; Vanoevelen, Jo

    2016-01-01

    male deaths due to heterotaxy in the family (n=1). All variants were located within the zinc-finger domains or leading to a truncation before these domains. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins, whereas the missense variant showed normal trafficking. Overexpression...

  5. Height-reducing variants and selection for short stature in Sardinia

    NARCIS (Netherlands)

    Zoledziewska, Magdalena; Sidore, Carlo; Chiang, Charleston W K; Sanna, Serena; Mulas, Antonella; Steri, Maristella; Busonero, Fabio; Marcus, Joseph H; Marongiu, Michele; Maschio, Andrea; Ortega Del Vecchyo, Diego; Floris, Matteo; Meloni, Antonella; Delitala, Alessandro; Concas, Maria Pina; Murgia, Federico; Biino, Ginevra; Vaccargiu, Simona; Nagaraja, Ramaiah; Lohmueller, Kirk E; Timpson, Nicholas J; Soranzo, Nicole; Tachmazidou, Ioanna; Dedoussis, George; Zeggini, Eleftheria; Uzzau, Sergio; Jones, Chris; Lyons, Robert; Angius, Andrea; Abecasis, Gonçalo R; Novembre, John; Schlessinger, David; Cucca, Francesco

    We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identify two variants with large effects. One variant, which introduces a stop codon in the GHR gene, is relatively frequent

  6. Two novel haemoglobin variants that affect haemoglobin A1c measurement by ion-exchange chromatography

    NARCIS (Netherlands)

    Bots, Michael; Stroobants, An K.; Delzenne, Barend; Soeters, Maarten R.; de Vries, Johan E.; Weykamp, Cas W.; Norg, Roelf J. C.; Veldthuis, Martijn; van Zwieten, Rob

    2015-01-01

    Haemoglobin (Hb) variants are well-known factors interfering with accurate HbA1c testing. This report describes two novel Hb variants leading to inappropriate quantification of HbA1c by ion-exchange chromatography. Glycated forms of novel Hb variants were recognised in the blood of two patients with

  7. BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

    NARCIS (Netherlands)

    Shimelis, Hermela; Mesman, Romy L. S.; Von Nicolai, Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, Charlotte; Calléja, Fabienne M. G. R.; Meeks, Huong; Hallberg, Emily; Hinton, Jamie; Lilyquist, Jenna; Hu, Chunling; Aalfs, Cora M.; Aittomäki, Kristiina; Andrulis, Irene; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Benitez, Javier; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Borresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Brouwers, Barbara; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Cheng, Ching-Yu; Choi, Ji-Yeob; Collée, J. Margriet; Cox, Angela; Cross, Simon S.; Czene, Kamila; Darabi, Hatef; Dennis, Joe; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dunning, Alison M.; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; García-Closas, Montserrat; Giles, Graham G.; Glendon, Gord; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hartman, Mikael; Hogervorst, Frans B.; Hollestelle, Antoinette; Hopper, John L.; Ito, Hidemi; Jakubowska, Anna; Kang, Daehee; Kosma, Veli-Matti; Kristensen, Vessela; Lai, Kah-Nyin; Lambrechts, Diether; Marchand, Loic Le; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Machackova, Eva; Mannermaa, Arto; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; Miao, Hui; Michailidou, Kyriaki; Milne, Roger L.; Muir, Kenneth; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Olswold, Curtis; Oosterwijk, Jan J. C.; Osorio, Ana; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul D. P.; Pylkäs, Katri; Radice, Paolo; Rashid, Muhammad Usman; Rhenius, Valerie; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schoemaker, Minouk J.; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shrubsole, Martha; Shu, Xiao-Ou; Slager, Susan; Southey, Melissa C.; Stram, Daniel O.; Swerdlow, Anthony; teo, Soo H.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van Asperen, Christi J.; van der Kolk, Lizet E.; Wang, Qin; Winqvist, Robert; Wu, Anna H.; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Leary, Jennifer; Walker, Logan; Foretova, Lenka; Fostira, Florentia; Claes, Kathleen B. M.; Varesco, Liliana; Moghadasi, Setareh; Easton, Douglas F.; Spurdle, Amanda; Devilee, Peter; Vrieling, Harry; Monteiro, Alvaro N. A.; Goldgar, David E.; Carreira, Aura; Vreeswijk, Maaike P. G.; Couch, Fergus J.

    2017-01-01

    Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk

  8. Methods for engineering polypeptide variants via somatic hypermutation and polypeptide made thereby

    Science.gov (United States)

    Tsien, Roger Y; Wang, Lei

    2015-01-13

    Methods using somatic hypermutation (SHM) for producing polypeptide and nucleic acid variants, and nucleic acids encoding such polypeptide variants are disclosed. Such variants may have desired properties. Also disclosed are novel polypeptides, such as improved fluorescent proteins, produced by the novel methods, and nucleic acids, vectors, and host cells comprising such vectors.

  9. Investigation of the role of TCF4 rare sequence variants in schizophrenia.

    Science.gov (United States)

    Basmanav, F Buket; Forstner, Andreas J; Fier, Heide; Herms, Stefan; Meier, Sandra; Degenhardt, Franziska; Hoffmann, Per; Barth, Sandra; Fricker, Nadine; Strohmaier, Jana; Witt, Stephanie H; Ludwig, Michael; Schmael, Christine; Moebus, Susanne; Maier, Wolfgang; Mössner, Rainald; Rujescu, Dan; Rietschel, Marcella; Lange, Christoph; Nöthen, Markus M; Cichon, Sven

    2015-07-01

    Transcription factor 4 (TCF4) is one of the most robust of all reported schizophrenia risk loci and is supported by several genetic and functional lines of evidence. While numerous studies have implicated common genetic variation at TCF4 in schizophrenia risk, the role of rare, small-sized variants at this locus-such as single nucleotide variants and short indels which are below the resolution of chip-based arrays requires further exploration. The aim of the present study was to investigate the association between rare TCF4 sequence variants and schizophrenia. Exon-targeted resequencing was performed in 190 German schizophrenia patients. Six rare variants at the coding exons and flanking sequences of the TCF4 gene were identified, including two missense variants and one splice site variant. These six variants were then pooled with nine additional rare variants identified in 379 European participants of the 1000 Genomes Project, and all 15 variants were genotyped in an independent German sample (n = 1,808 patients; n = 2,261 controls). These data were then analyzed using six statistical methods developed for the association analysis of rare variants. No significant association (P power analyses suggest that further research into the possible involvement of rare TCF4 sequence variants in schizophrenia risk is warranted by the assessment of larger cohorts with higher statistical power to identify rare variant associations. © 2015 Wiley Periodicals, Inc.

  10. Desahuciando inmigrantes: una etnografía en una comunidad dañada

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    Ignasi Bernat Molina

    2014-09-01

    Full Text Available El derrumbe financiero y económico que se inició en 2007 en Estados Unidos después de la conocida como crisis de las hipotecas subprime se tornó global un año después. En España, uno de los países más afectados por la larga crisis, la prosperidad anterior enseguida pareció ser un espejismo. Pero la crisis no ha afectado a todo el mundo en la misma medida. De hecho, hay gente que se ha enriquecido durante el período 2008-2012, en cambio, la crisis está teniendo un impacto mayor sobre los que ya se encontraba en una situación más precaria. En este artículo discutiré una de las múltiples caras de la crisis española que está afectando a los más desaventajados: los desahucios y su resistencia por parte de la población migrante. Para hacer esto, primero examinaré un municipio que ha sido paradigmático de enclave migrante en España: Salt. Salt es un municipio conocido en Girona, Catalunya, por haber sido descrito en los medios de comunicación como un gueto como resultado de los problemas que surgen con el exceso de inmigración (el 42% de su población es de origen extranjero. Salt se hizo famoso cuando en marzo de 2010 un grupo de vecinos entró en el ayuntamiento exigiendo más seguridad y denunciando la pasividad de la policía ante una ola de robos en el pueblo. Desde entonces, distinto conflictos aparecen en los medios de comunicación. De todos modos, una etnografía desde una perspectiva criminológica muestra que el problema que aparece en los medios de comunicación (el delito callejero es solo uno entre los varios que afectan a la población. Peor aún, toda la atención puesta sobre el municipio por medios, políticos y policías no ha servido para la detección de un problema que está generando mucho más daño social: los desahucios. La crisis ha servido para observar el modus operandi de bancos y agencias inmobiliarias, los principales victimarios en el conflicto de los desahucios. Vendían pisos, nunca los

  11. A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.

    Science.gov (United States)

    Miyake, B

    1989-02-01

    In a survey of the proteins from human hair, a genetic electrophoretic variant has been observed in the high-sulfur protein region. S-carboxymethylated proteins were examined by 15% polyacrylamide gel electrophoresis at pH 8.9. Out of 150 unrelated samples of Japanese head hairs analyzed, 107 showed 6 major high-sulfur protein bands (normal) and the remaining 43 samples showed an additional high-sulfur protein band (variant). Of 21 Caucasian samples analyzed only one variant sample was found. Characterization of the proteins by two-dimensional electrophoresis evidenced a variant protein spot which showed an apparent molecular weight of 30 k Da. Isoelectric points of the high-sulfur proteins ranged from 3.25-3.55 and that of variant protein band from 3.3-3.4. Family studies of 21 matings resulting in 49 children indicated that this variant was inherited in an autosomal fashion.

  12. Biografía de una sombra

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    Gonzalo Ríos Ocampo

    1981-06-01

    Full Text Available Agustín Rodríguez Garavito nos ha entregado, en cordial gesto literario, un ejemplar dedicado de su último libro "Gaitán, biografía de una sombra" que hemos leído a la luz de nuestra ya antigua amistad y de predilecciones cuya impronta nos marca desde los tiempos ya casi desvanecidos de nuestra adolescencia manizaleña, cuando nos embriagábamos de D' Annunzio, Gautier, Barrés, Rodenbach, Larreta, Huidobro, Lotí, Balzac, los poetas malditos, Flaubert y otros que mezclábamos, en coctel espumoso y sápido, con Spencer, Leibnitz, Nietzsche, Chateaubriand, Schopenhauer el misógino, Lorrain el de los adjetivos esclavos, hiperbóreos, intuitivos y toda aquella baraja de líricos y pensadores que alumbraron los caminos de Europa y América con su linterna mental nutrida de pilas cósmicas.

  13. Si a tit e mantearon una vez

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    Mitja Skubic

    1999-12-01

    Full Text Available Esta oración compuesta, palabras pronunciadas por don Quijote* en el segundo capítulo de la segunda parte de la novela cervantina, "Si a ti te mantearon una vez, a mí me han molido ciento", solo en aparencia un periodo hipotético, representa en realidad un conjunto paratáctico de dos unidades contrapuestas en su significado. Suscitan nuestro interés por hallarse en el mismo período los dos paradigmas del pretérito español que llamaremos pretérito simple y préterito compuesto. Es sabido cuán variada es la denominación de estos dos paradigmas verbales en las gramáticas y en los tratádos españoles. Seguiremos la nomenclatura del francés: se prefiere, en cuanto sea posible, dejar a parte el contenido limitándose a la forma.

  14. Comentarios a una tesis de grado

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    Camilo Gutiérrez

    1938-06-01

    Full Text Available Por una casualidad llegó a mis manos la tesis que para optar el título de doctor en Medicina y Cirugía presentó al correspondiente Jurado Calificador el señor Aquilino Gaitán Mariño, con el nombre de "Crítica a la campaña antileprosa en Colombia", pero que más propiamente debiera llevar el de "Crítica a la organización de los lazaretos colombianos, en particular el de Agua de Dios", pues el panfleto se reduce a censurar varios aspectos de nuestras leproserías, que constituyen apenas un cortísimo capítulo de la gran obra de la lucha antileprosa en Colombia; y como el doctor Gaitán ejerció seis meses en Agua. de Dios, enfila sus baterías contra este leprosorioquizá el único conocido por él.

  15. Una riflessione interdisciplinare sul termine cambiamento

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    Giuseppe Licari

    2013-05-01

    Full Text Available Riassunto Il focus che presento propone una riflessione interdisciplinare sul campo semantico del termine cambiamento. Lo scopo è quello di cogliere, attraverso uno sguardo sulla complessità del reale, alcune delle situazioni e alcuni processi dove la parola cambiamento si va a collocare. Come sappiamo il cambiamento lo possiamo ritrovare sia nei processi evolutivi, come in quelli formativi, o in quelli epistemologici, si pensi ad esempio al cambio di paradigma più famoso nella conoscenza umana: il passaggio dal sistema di pensiero geocentrico al sistema eliocentrico. Così, al cambiamento troviamo associati lo spaesamento, le resistenze, la crisi, la rabbia, la tristezza, ma non ultimo, l’ampliamento dei propri orizzonti di crescita personale e collettiva. Parole chiave: paradigma, organizzazione, relazione, esperienze di vita.An interdisciplinary reflection on the term changeAbstract My presentation proposes an interdisciplinary reflection on the semantic field of the word change. While looking at the complexity of reality, it aims at grasping some situations and processes where the term change is involved. As we know, we can find changes in evolutionary, educational, epistemological processes, let us think for example of the most famous paradigm change of human knowledge: the passage from geocentric to heliocentric mindset. Bewilderment, resistances, crisis, anger, sadness are thus associated to change, as well as the enlargement of one’s own personal and collective growth.Key word : paradigm, organization, relationship, life experiences.

  16. LA INSTITUCION: UNA CATEGORIA A RECONSTRUIR

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    Gloria Alvarado Forero

    1995-01-01

    Full Text Available El desarrollo de las teorías del Sujeto modificó, de manera sensible, las estrategias de construcción del concepto de Institución y por tanto impuso la necesidad de reconsiderar a uno de los pilares en los cuales se fundamenta el saber de las Ciencias Sociales. Tales teorías, articuladas de manera indisoluble con los problemas del orden simbólico y por tanto con el problema del sentido, no han conducido sinembargo, a viabilizar satisfactoriamente un concepto dinámico de la institución como acción en y por la creación, manteniendo por el contrario afianzada su condición de entidad y estado de cosas. Una aproximación a la lógica del sentido, muestra por el contrario interesantes posibilidades, a la luz de las cuales ciertos debates sobre lo instituído y lo instituyente como momentos de la institución se revelan irrelevantes.

  17. Una lección que aprender

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    Roberto Lira Olmo

    2010-05-01

    Full Text Available Una tremenda tragedia se abatió sobre Chile entre estos dos últimos números de la revista. Como en todos los momentos impresionantes de la vida, cada uno de nosotros recordará para siempre qué hacía esa madrugada el 27 de febrero pasado, en el momento del terremoto. En lo particular, aparte de las memorias del sacudón interminable, el correr a casa de los hijos y pasar la noche en la calle, apenas, alumbrar el sol, recuerdo comenzar a ver los resultados de la tragedia: la gente desorientada en las plazas y en los cerros, las casas y los edificios resquebrajados y muchos en el suelo, las calles partidas. El asombro no terminó esa mañana: todavía perdura. Ver los desmanes y la pérdida de las normas cívicas con tanta facilidad, fue de lo más duro. Luego, con los días y las semanas y hasta los meses, hemos seguido descubriendo destrucción en los lugares más apartados.

  18. El Número Uno, una Retrospectiva Conceptual.

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    Alejandro Garciadiego Dantan

    2012-02-01

    Full Text Available The objective of this essay is to show how the concept of number ‘one’ has changed, from its initial formal definition in Euclid’s The Elements until very recently. Some of these changes are mathematical, others are philosophical, and others are historical in character. This retrospective of the concept of number ‘one’ implies that the history of mathematics is much more complex and rich than that which is suggested by our intuition when we limit ourselves to a unique, lineal and continuous mathematics. El objetivo de este ensayo es mostrar cómo es que el concepto de número ‘uno’ ha cambiado, desde que se definió de manera formal en Los Elementos de Euclides hasta hace relativamente unos cuantos años. Algunos de estos cambios son de naturaleza matemática, otros filosófica y otros histórica. Esta retrospectiva del concepto de número ‘uno’ implica que la historia de las matemáticas es mucho más compleja y rica que la que nuestra intuición nos sugiere, cuando nos limitamos a una matemática única, lineal y continua.

  19. una experiencia de intervención

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    Cecilia Villarreal Montoya

    2007-01-01

    Full Text Available El artículo resume la experiencia de intervención con una familia de la escuela de Villa Esperanza de Pavas. Se trata de un matrimonio con dificultades para disciplinar a sus tres hijos varones de ocho, seis, y cuatro años. En primer lugar, se exponen los principios teóricos y metodológicos, para luego mostrar la aplicación de ellos en el proceso vivido por la familia. Se aplica el modelo de intervención estructural, que busca que la misma familia logre realizar, paso a paso, los cambios requeridos en la dinámica y estructura familiar. En la situación específica de esta familia, se observa el fortalecimiento de la pareja como tal y como madre y padre en la medida que van logrando asumir la autoridad en forma compartida para disciplinar a los hijos. Al compartir esta experiencia, la autora pretende estimular a profesionales en Orientación a asumir el reto de considerar a las familias de la comunidad estudiantil, de las instituciones educativas donde laboran, como parte importante en el quehacer orientador.

  20. Entre Marx y una mujer desnuda

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    Omar Ospina García

    2015-01-01

    Full Text Available Comunicación y Género, acopia trabajos que vinculan a la mujer y la comunicación y sus esfuerzos por no ser consideradas inferiores. Del libro a la pantalla, acerca a algunas reflexiones sobre el proceso que lleva del libro a la pantalla por la polémica que despierta la adaptación de las novelas, puesto que muchos señalan que la trama se ve desfigurada. Se agregan varios temas sobre el cine. En "Días de Radio", se plantea el que a pesar de la censura y los problemas económicos que deben enfrentar, las radios populares de América Latina, siguen ganando espacios, de su desarrollo depende una mayor profundización de la democracia. Tema de debate es Estrategias comunicativas en Chiapas y Haití. Se añaden dos entrevistas a un caricaturista brasileño y a un corresponsal de guerra muy prestigiado.

  1. El ECTS y una Universidad que aprende

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    Mª Dolores BAENA CUADRADO

    2005-01-01

    Full Text Available El proceso de Convergencia Europea que está viviendo la Universidad Española, trae consigo una adaptación del sistema de créditos que se centra en el trabajo del alumnado, para definir los programas de estudio. Esto supone, entre otros aspectos, un replanteamiento de las metodologías utilizadas por el profesorado y, por tanto, un cambio en la concepción del proceso de enseñanza y aprendizaje en la Educación Superior. Ante este reto, es necesario conocer cuál es la situación actual de la práctica educativa universitaria. Presentamos los primeros resultados de un estudio exploratorio realizado en la Universidad de La Laguna, con la intención de contrastar la realidad actual con las demandas planteadas desde el modelo de Bolonia para la creación del Espacio Europeo de Educación Superior.

  2. Una perspectiva internacional de la contabilidad

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    Martha Lucia Suarez Suarez

    2005-01-01

    Full Text Available En la medida en que la internacionalización empresarial ha ido intensificándose y va surgiendo un nuevo usuario de la información internacional, la problemática ha ido pasando tanto al ámbito académico como al profesional. Consciente de esta realidad, la Facultad de Contaduría Pública de la Universidad de La Salle ha ido reformando el plan de estudios, e incorporando a los profesores a una visión internacional de la profesión, para atender la demanda formativa en este campo de la Contaduría Pública, para cualificar a los profesionales de la empresa en el escenario que la nueva dimensión internacional de la información contable está creando y necesitando. Uno de los principales objetivos de la contabilidad es proporcionar información útil para la toma de decisiones por parte de los usuarios. Esto adquiere mayor relevancia en la utilización de la información contable, la cual no se ciñe al ámbito nacional, sino que va más allá de las fronteras; la evolución del entorno que rodea a la empresa ha propiciado en los últimos años un proceso de internacionalización de la actividad económica, como consecuencia de la información contable.

  3. Una poética del pliegue

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    Ana Porrúa

    2000-11-01

    Full Text Available La producción de Juan Gelman-de Violín y otras cuestiones a Relaciones- puede inscribirse dentro de la poética sesentista caracterizada por la hegemonía de la narración y la apertura del discurso poético al resto de los discursos sociales, pero también establece una compleja relación con las vanguardias históricas. La noción de pliegue permite revisar las articulaciones de este conflicto; como espacio el pliegue separa ambas poéticas, la "coloquialista" y vanguardista, que pueden leerse en el interior del corpus propuesto en estado puro, yuxtapuestas, o bajo la forma del cruce que instala la polémica entre libros o textos de un mismo libro. La idea depliegue como rasgo operatorio permite, por su parte, revisar la relación entre ambas poéticas en el interior de un poema, focalizando la materia, el lenguaje. En este caso la poética vanguardista funciona como cuestionamiento de la linealidad del texto sesentista.

  4. Una poética del pliegue

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    Ana Porrúa

    2001-11-01

    Full Text Available La producción de Juan Gelman-de Violín y otras cuestiones a Relaciones- puede inscribirse dentro de la poética sesentista caracterizada por la hegemonía de la narración y la apertura del discurso poético al resto de los discursos sociales, pero también establece una compleja relación con las vanguardias históricas. La noción de pliegue permite revisar las articulaciones de este conflicto; como espacio el pliegue separa ambas poéticas, la "coloquialista" y vanguardista, que pueden leerse en el interior del corpus propuesto en estado puro, yuxtapuestas, o bajo la forma del cruce que instala la polémica entre libros o textos de un mismo libro. La idea depliegue como rasgo operatorio permite, por su parte, revisar la relación entre ambas poéticas en el interior de un poema, focalizando la materia, el lenguaje. En este caso la poética vanguardista funciona como cuestionamiento de la linealidad del texto sesentista.

  5. Recomendaciones para una lactancia materna exitosa

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    María Elena Ortega-Ramírez

    2015-03-01

    Full Text Available La lactancia materna es la única manera de proporcionar los nutrientes ideales para el adecuado crecimiento y desarrollo de los niños y las niñas. Es el único alimento que tiene una influencia biológica y emocional sobre la salud de la madre y su hijo. La lactancia materna protege a los lactantes de enfermedades gracias a sus propiedades antiinfecciosas, además de que es de más fácil digestión por la menor cantidad de caseína. No contiene betalactoglobulina, que es la proteína que más frecuentemente se asocia con alergia a proteína de leche de vaca. Por estas razones los médicos y trabajadores de la salud deben favorecer la práctica de la lactancia materna.

  6. EMULACIÓN DE ESCENARIOS VIRTUALES, EN UNA SDWLAN (SOFTWARE DEFINED WIRELESS LOCAL AREA NETWORK, DE UN CAMPUS UNIVERSITARIO

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    Gerlyn Duarte

    2015-07-01

    Full Text Available Las redes definidas por software (SDN = Software Defined Network es una arquitectura de red emergente que se destaca como una tecnología capaz de ofrecer un control más flexible y dinámico a la hora de gestionar el diseño y funciones de la red, donde se separan los planos de control y enrutamiento. Esto permite la centralización de los controles de la red basada en software. Se puede decir que es posible tener flexibilidad y rapidez al momento de configurar, implementar y administrar diferentes protocolos personalizados para los requerimientos de distintas redes. Actualmente, en una red convencional, cada conmutador y/o enrutador tienen software propietario que le dice qué hacer. SDN se centra principalmente en la parte cableada de la red de datos. Sin embargo, todas las ventajas de las SDN sólo se obtienen si se logra abarcar la totalidad de la infraestructura, desde el centro de datos al extremo de la red, permitiendo extender todos los beneficios de SDN hasta la red inalámbrica, para conseguir a su vez una red inalámbrica de área local definida por software (SDWLAN = Software Define Wireless Local Area Network. Es por ello que en el presente trabajo, se emuló parte de una SDWLAN de un campus universitario para observar la factibilidad de implementar SDN en la misma. Para la emulación se utilizó una variante del emulador Mininet que permite trabajar con redes inalámbricas. De igual forma, se efectuaron mediciones del ancho de banda de las SDWLAN emuladas, así como la interconectividad entre ellas. Se evidenció la facilidad y el rendimiento de trabajar con las herramientas de emulación de SDWLAN empleadas, permitiendo de igual forma la estructuración de distintas topologías de SDWLAN. Se comprobó que el emulador, el cual está aún en la fase beta, permite interactuar y ejecutar cualquier proceso como si se ejecutara directamente en un equipo con GNU/Linux de forma eficaz.

  7. Antisocial personality disorder and anxiety disorder: a diagnostic variant?

    Science.gov (United States)

    Coid, Jeremy; Ullrich, Simone

    2010-06-01

    Antisocial personality disorder (ASPD) with co-morbid anxiety disorder may be a variant of ASPD with different etiology and treatment requirements. We investigated diagnostic co-morbidity, ASPD criteria, and anxiety/affective symptoms of ASPD/anxiety disorder. Weighted analyses were carried out using survey data from a representative British household sample. ASPD/anxiety disorder demonstrated differing patterns of antisocial criteria, co-morbidity with clinical syndromes, psychotic symptoms, and other personality disorders compared to ASPD alone. ASPD criteria demonstrated specific associations with CIS-R scores of anxiety and affective symptoms. Findings suggest ASPD/anxiety disorder is a variant of ASPD, determined by symptoms of anxiety. Although co-morbid anxiety and affective symptoms are the same as in anxiety disorder alone, associations with psychotic symptoms require further investigation. Copyright 2010 Elsevier Ltd. All rights reserved.

  8. Multidetector CT angiography of renal vasculature: normal anatomy and variants

    International Nuclear Information System (INIS)

    Tuerkvatan, Aysel; Oezdemir, Mustafa; Cumhur, Turhan; Oelcer, Tuelay

    2009-01-01

    Knowledge of the variations in renal vascular anatomy is important before laparoscopic donor or partial nephrectomy and vascular reconstruction for renal artery stenosis or abdominal aortic aneurysm. Recently, multidetector computed tomographic (MDCT) angiography has become a principal imaging investigation for assessment of the renal vasculature and has challenged the role of conventional angiography. It is an excellent imaging technique because it is a fast and non-invasive tool that provides highly accurate and detailed evaluation of normal renal vascular anatomy and variants. The number, size and course of the renal arteries and veins are easily identified by MDCT angiography. The purpose of this pictorial essay is to illustrate MDCT angiographic appearance of normal anatomy and common variants of the renal vasculature. (orig.)

  9. A rare variant of first branchial cleft fistula.

    Science.gov (United States)

    Ramnani, S; Mungutwar, V; Goyal, N K; Bansal, A

    2009-12-01

    We report an extremely rare variant of first branchial cleft anomaly. A 15-year-old girl presented with a history of recurrent mucopurulent discharge from an opening in the left infra-auricular region, since birth. Computed tomography fistulography showed a tortuous tract measuring approximately 4.61 cm, extending anteroinferiorly and medially from the external inframeatal opening to the lateral nasopharyngeal wall (anterior to the fossa of Rosenmuller). The tract was connected to the deep lobe of the parotid gland and lay 0.67 cm anterior to the carotid artery and posterior to the medial pterygoid muscle. This was an extremely rare variant of first branchial cleft fistula. To the best of our knowledge, this is the first case of its type to be reported. Computed tomography fistulography is the imaging modality of choice for the diagnosis of branchial cleft fistula, and will also assist surgical planning.

  10. Multidetector CT angiography of renal vasculature: normal anatomy and variants

    Energy Technology Data Exchange (ETDEWEB)

    Tuerkvatan, Aysel; Oezdemir, Mustafa; Cumhur, Turhan; Oelcer, Tuelay [Tuerkiye Yueksek ihtisas Hospital, Department of Radiology, Sihhiye, Ankara (Turkey)

    2009-01-15

    Knowledge of the variations in renal vascular anatomy is important before laparoscopic donor or partial nephrectomy and vascular reconstruction for renal artery stenosis or abdominal aortic aneurysm. Recently, multidetector computed tomographic (MDCT) angiography has become a principal imaging investigation for assessment of the renal vasculature and has challenged the role of conventional angiography. It is an excellent imaging technique because it is a fast and non-invasive tool that provides highly accurate and detailed evaluation of normal renal vascular anatomy and variants. The number, size and course of the renal arteries and veins are easily identified by MDCT angiography. The purpose of this pictorial essay is to illustrate MDCT angiographic appearance of normal anatomy and common variants of the renal vasculature. (orig.)

  11. Combinations of genetic variants associated with bipolar disorder

    DEFF Research Database (Denmark)

    Mellerup, Erling; Andreassen, Ole A; Bennike, Bente

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five...... clusters of combinations were found to be significantly associated with bipolar disorder. In the present study, combinations of ten SNP genotypes taken from the same 803 SNPs were analyzed, and one cluster of combinations was found to be significantly associated with bipolar disorder. Combinations from......, heterozygote or variant homozygote. In the combinations containing 10 SNP genotypes almost all the genotypes were the normal homozygote. Such a finding may indicate that accumulation in the genome of combinations containing few SNP genotypes may be a risk factor for bipolar disorder when those combinations...

  12. Canine parvovirus (CPV-2) variants circulating in Nigerian dogs

    Science.gov (United States)

    Apaa, T. T.; Daly, J. M.; Tarlinton, R. E.

    2016-01-01

    Canine parvovirus type 2 (CPV-2) is a highly contagious viral disease with three variants (CPV-2a, CPV-2b and CPV-2c) currently circulating in dogs worldwide. The main aim of this study was to determine the prevalent CPV-2 variant in faecal samples from 53 dogs presenting with acute gastroenteritis suspected to be and consistent with CPV-2 to Nigerian Veterinary Clinics in 2013–2014. Seventy-five per cent of these dogs tested positive for CPV-2 in a commercial antigen test and/or by PCR. Partial sequencing of the VP2 gene of six of these demonstrated them to be CPV-2a. Most of the dogs (60 per cent) were vaccinated, with 74 per cent of them puppies less than six months old. PMID:27933190

  13. On the correspondence of last variants of 5-dimensional theories

    International Nuclear Information System (INIS)

    Gavrilov, V.R.; Karnaukhov, A.V.

    1984-01-01

    The paper deals with determining importance and analysis of the recently suggested Schmutzer unified constructive field theory. The well-known variants of 5- and more-dimensional theories are classified. Basic features of theories of first generation (Kaluza-Klein), second generation (scalar-tensor theories of Jordan and Brance-Dikke) and theories of third and fourth generations are noted. It is specially stressed that in contrast to the monadic formalism, the projective formalism in principle does not admit the introduction of dependence on the fifth coordinate and therefore of geometrization of the right part of the Einstein and MaxWell equations analogous to variants of the third and fourth generations

  14. Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

    Science.gov (United States)

    Boyden, Steven E; Desai, Avanti; Cruse, Glenn; Young, Michael L; Bolan, Hyejeong C; Scott, Linda M; Eisch, A Robin; Long, R Daniel; Lee, Chyi-Chia R; Satorius, Colleen L; Pakstis, Andrew J; Olivera, Ana; Mullikin, James C; Chouery, Eliane; Mégarbané, André; Medlej-Hashim, Myrna; Kidd, Kenneth K; Kastner, Daniel L; Metcalfe, Dean D; Komarow, Hirsh D

    2016-02-18

    Patients with autosomal dominant vibratory urticaria have localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. We identified a previously unknown missense substitution in ADGRE2 (also known as EMR2), which was predicted to result in the replacement of cysteine with tyrosine at amino acid position 492 (p.C492Y), as the only nonsynonymous variant cosegregating with vibratory urticaria in two large kindreds. The ADGRE2 receptor undergoes autocatalytic cleavage, producing an extracellular subunit that noncovalently binds a transmembrane subunit. We showed that the variant probably destabilizes an autoinhibitory subunit interaction, sensitizing mast cells to IgE-independent vibration-induced degranulation. (Funded by the National Institutes of Health.).

  15. PET/TAC: Basic principles, physiological variants and artifacts

    International Nuclear Information System (INIS)

    Jimenez V, A.M.

    2007-01-01

    This presentation is about the basic principles, physiologic variants and devices that work in the PET/TAC technique. Next the conclusions obtained in the same one are presented: For a correct evaluation of the PET/TAC images with FDG is necessary the knowledge of the image acquisition technique, as well as of the physiologic distribution of the FDG, variants of the normality, benign causes of captation and more frequent devices. The introduction of this hybrid procedure allows the correct anatomical localization and identification of the deposits of FDG largely avoiding false or doubtful interpretations, but it can also originate not specific devices existent in the conventional PET. The previous knowledge of the possible devices will make possible in certain cases its elimination and in other its identification avoiding incorrect interpretations. (Author)

  16. Dandy walker variant and bipolar I disorder with graphomania.

    Science.gov (United States)

    Can, Serdar Suleyman; Karakaş Uğurlu, Görkem; Cakmak, Selcen

    2014-07-01

    Cerebellum is known to play an important role in coordination and motor functions. In some resent studies it is also considered to be involved in modulation of mood, cognition and psychiatric disorders. Dandy Walker Malformation is a congenital malformation that is characterized by hypoplasia or aplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. When the volume of posterior fossa is normal, the malformation is called Dandy Walker Variant. Case is a 32 year old male with a 12 year history of Bipolar I Disorder presented with manic and depresive symptoms, including dysphoric and depressive affect, anhedonia, suicidal thoughts and behaviours, thoughts of fear about future, overtalkativeness and graphomania, increased energy, irregular sleep, loss of appetite, increased immersion in projects, irritability, agressive behavior, impulsivity. Cranial Magnetic Resonance Imaging was compatible to the morphological features of Dandy Walker Variant.

  17. 'Variant' angina: Evidence for small vessel coronary artery spasm

    International Nuclear Information System (INIS)

    Pfisterer, M.; Mueller-Brand, J.; Cueni, T.; Luetold, B.; Burkart, F.; Basel Univ.

    1980-01-01

    A unique case of 'variant' angina pectoris has been observed in a patient with normal coronary arteries and typical chest pain appearing spontaneously at rest, and repeatedly provoked by ergonovine maleate (0.1 mg iv) associated with large transmural perfusion defects on 201 TI-imaging (after ergonovine) and a marked increase in T wave voltage despite no demonstrable spasm of a major coronary artery after the same doses of ergonovine. While saline solution could not provoke chest pain and treatment with a beta-blocking agent increased the frequency of ischemic attacks, a calcium antangonist therapy reduced and eventually eliminated the attacks. Thus, this case provides evidence for yet another aspect of a 'variant' form of angina pectoris: small vessel coronary artery spasm. (orig.) [de

  18. Variants, pitfalls and asymptomatic findings in wrist and hand imaging

    Energy Technology Data Exchange (ETDEWEB)

    Pfirrmann, Christian W.A. [University Hospital Balgrist, Radiology, University of Zurich Switzerland, Forchstrasse 340, CH-8008 Zurich (Switzerland)]. E-mail: christian@pfirrmann.ch; Zanetti, Marco [University Hospital Balgrist, Radiology, University of Zurich Switzerland, Forchstrasse 340, CH-8008 Zurich (Switzerland)

    2005-12-15

    Anatomic variants of the bones, ligaments, tendons and muscles are frequent findings in imaging of the wrist and hand. Many findings especially changes in the triangular fibrocartilage (TFC) and the interosseous ligaments are asymptomatic, their incidence is increasing with age, and they are frequently found bilaterally. Abnormalities such as increased signal within tendons are common in asymptomatic subjects. They may be explained by normal physiology, anatomical variability, MR artifacts or true abnormalities without clinical importance. Although it is not always possible to differentiate variants and artifacts from clinically relevant findings it is important to know their potential etiology and clinical importance and not to over report them as abnormality requiring additional imaging or treatment.

  19. Matrix metalloproteinase-2 gene variants and abdominal aortic aneurysm.

    Science.gov (United States)

    Smallwood, L; Warrington, N; Allcock, R; van Bockxmeer, F; Palmer, L J; Iacopetta, B; Golledge, J; Norman, P E

    2009-08-01

    To investigate associations between two polymorphisms of the matrix metalloproteinase-2 gene (MMP2) and the incidence and progression of abdominal aortic aneurysm (AAA). Cases and controls were recruited from a trial of screening for AAAs. The association between two variants of MMP2 (-1360C>T, and +649C>T) in men with AAA (n=678) and in controls (n=659) was examined using multivariate analyses. The association with AAA expansion (n=638) was also assessed. In multivariate analyses with adjustments for multiple testing, no association between either SNP and AAA presence or expansion was detected. MMP2 -1360C>T and +649C>T variants are not risk factors for AAA.

  20. Diagnosis and management of behavioral variant frontotemporal dementia.

    Science.gov (United States)

    Pressman, Peter S; Miller, Bruce L

    2014-04-01

    Frontotemporal dementia was documented over a century ago. The last decade, however, has seen substantial changes in our conceptions of this increasingly recognized disorder. Different clinical variants have been delineated, the most common of which is the behavioral variant (bvFTD). Updated diagnostic criteria have been established. New histopathological findings and genetic etiologies have been discovered. Research continues to uncover molecular mechanisms by which abnormal proteins accumulate in degenerating brain tissue. Novel neuroimaging techniques suggest that functional networks are diminished in bvFTD that might be relevant to empathy and social behavior. Despite rapid advances in our understanding of bvFTD, the disease is still under-recognized and commonly misdiagnosed. The result is inappropriate patient care. Recognizing the various presentations of bvFTD and its histological and genetic subtypes might further diagnosis, treatment, and research. © 2013 Society of Biological Psychiatry Published by Society of Biological Psychiatry All rights reserved.

  1. Variants of the ADRB2 Gene in COPD

    DEFF Research Database (Denmark)

    Nielsen, Anne Orholm; Steen Jensen, Camilla; Arredouani, Mohamed Simo

    2017-01-01

    The β2-adrenergic receptor (ADRB2) is an important regulator of airway smooth muscle tone in chronic obstructive pulmonary disease (COPD). Variants that impair ADRB2 function could increase disease risk or reduce the response to endogenous and inhaled adrenergic agonists in COPD. We performed...... a systematic review and three meta-analyses to assess whether three functional variants (Thr164Ile, Arg16Gly, and Gln27Glu) in the ADRB2 gene are associated with elevated risk of disease or reduced therapeutic response to inhaled β2-agonists in COPD. We searched the medical literature from 1966 to 2017...... and found 16 relevant studies comprising 85381 study subjects. The meta-analyses found no significant association between ADRB2 genotype and COPD risk. The summary odds ratios (ORs) for COPD in Thr164Ile homozygotes and heterozygotes were 2.57 (95% confidence interval (CI): 0.54-12.4) and 1.17 (95% CI: 0...

  2. Relations of mitochondrial genetic variants to measures of vascular function.

    Science.gov (United States)

    Fetterman, Jessica L; Liu, Chunyu; Mitchell, Gary F; Vasan, Ramachandran S; Benjamin, Emelia J; Vita, Joseph A; Hamburg, Naomi M; Levy, Daniel

    2018-05-01

    Mitochondrial genetic variation with resultant alterations in oxidative phosphorylation may influence vascular function and contribute to cardiovascular disease susceptibility. We assessed relations of peptide-encoding variants in the mitochondrial genome with measures of vascular function in Framingham Heart Study participants. Of 258 variants assessed, 40 were predicted to have functional consequences by bioinformatics programs. A maternal pattern of heritability was estimated to contribute to the variability of aortic stiffness. A putative association with a microvascular function measure was identified that requires replication. The methods we have developed can be applied to assess the relations of mitochondrial genetic variation to other phenotypes. Copyright © 2017 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

  3. Prevalencia de la hipertensión arterial en una comunidad del municipio Cárdenas

    Directory of Open Access Journals (Sweden)

    José Adolfo Casteñanos Arias

    2000-01-01

    Full Text Available Se realizó un estudio sobre la hipertensión arterial mediante una muestra simple aleatoria a 208 pacientes mayores de 15 años de una comunidad del municipio Cárdenas, provincia de Matanzas en los meses de enero de 1995 a febrero de 1996. Se analizaron diferentes variantes como sexo, edad, antecedentes familiares de enfermedad hipertensiva, comportamiento de la tensión arterial sistólica y diastólica de acuerdo con diferentes grupos de edades, uso del tratamiento hipertensivo y control de la hipertensión arterial; así como hallazgos electrocardiográficos más importantes en pacientes hipertensos. Se encontró el 29,8 % de prevalencia y 12,9 % de incidencia. No existieron diferencias notables en hipertensos de los dos sexos, pero sí aumentó ésta a medida que aumentaba la edad, controlándose sólo el 8,5 % de ellos.A study on arterial hypertension was carried out using a simple random sample of 208 patients over 15 years of age from a community of the Cardenas municipality, Matanzas province, during the months from January 1995 through February of 1996. Different variables were analyzed such as sex, age, family antecedents of hypertension, behavior of systolic and diastolic arterial tension according to different age groups, use of hypertension treatment and arterial hypertension control, as well as the most important electrocardiographic findings in hypertension patients. It was found a 29.8 % of prevalence and a 12.9 % of incidence. There were no marked differences in hypertension patients of both sexes, but there was an increase of differences when analyzing the age factor, being controlled only the 8.5 % of the cases.

  4. Restoration of retinal images with space-variant blur

    Czech Academy of Sciences Publication Activity Database

    Marrugo, A.; Millán, M. S.; Šorel, Michal; Šroubek, Filip

    2014-01-01

    Roč. 19, č. 1 (2014), 016023-1-016023-12 ISSN 1083-3668 R&D Projects: GA ČR GA13-29225S Institutional support: RVO:67985556 Keywords : blind deconvolution * space-variant restoration * retinal image Subject RIV: JD - Computer Applications, Robotics Impact factor: 2.859, year: 2014 http://library.utia.cas.cz/separaty/2014/ZOI/sorel-0424586.pdf

  5. Provably Secure and Subliminal-Free Variant of Schnorr Signature

    OpenAIRE

    Zhang , Yinghui; Li , Hui; Li , Xiaoqing; Zhu , Hui

    2013-01-01

    Part 2: Asian Conference on Availability, Reliability and Security (AsiaARES); International audience; Subliminal channels present a severe challenge to information security. Currently, subliminal channels still exist in Schnorr signature. In this paper, we propose a subliminal-free variant of Schnorr signature. In the proposed scheme, an honest-but-curious warden is introduced to help the signer to generate a signature on a given message, but it is disallowed to sign messages independently. ...

  6. Coagulation factor VII variants resistant to inhibitory antibodies.

    Science.gov (United States)

    Branchini, Alessio; Baroni, Marcello; Pfeiffer, Caroline; Batorova, Angelika; Giansily-Blaizot, Muriel; Schved, Jean F; Mariani, Guglielmo; Bernardi, Francesco; Pinotti, Mirko

    2014-11-01

    Replacement therapy is currently used to prevent and treat bleeding episodes in coagulation factor deficiencies. However, structural differences between the endogenous and therapeutic proteins might increase the risk for immune complications. This study was aimed at identifying factor (F)VII variants resistant to inhibitory antibodies developed after treatment with recombinant activated factor VII (rFVIIa) in a FVII-deficient patient homozygous for the p.A354V-p.P464Hfs mutation, which predicts trace levels of an elongated FVII variant in plasma. We performed fluorescent bead-based binding, ELISA-based competition as well as fluorogenic functional (activated FX and thrombin generation) assays in plasma and with recombinant proteins. We found that antibodies displayed higher affinity for the active than for the zymogen FVII (half-maximal binding at 0.54 ± 0.04 and 0.78 ± 0.07 BU/ml, respectively), and inhibited the coagulation initiation phase with a second-order kinetics. Isotypic analysis showed a polyclonal response with a large predominance of IgG1. We hypothesised that structural differences in the carboxyl-terminus between the inherited FVII and the therapeutic molecules contributed to the immune response. Intriguingly, a naturally-occurring, poorly secreted and 5-residue truncated FVII (FVII-462X) escaped inhibition. Among a series of truncated rFVII molecules, we identified a well-secreted and catalytically competent variant (rFVII-464X) with reduced binding to antibodies (half-maximal binding at 0.198 ± 0.003 BU/ml) as compared to the rFVII-wt (0.032 ± 0.002 BU/ml), which led to a 40-time reduced inhibition in activated FX generation assays. Taken together our results provide a paradigmatic example of mutation-related inhibitory antibodies, strongly support the FVII carboxyl-terminus as their main target and identify inhibitor-resistant FVII variants.

  7. Blood type, ABO genetic variants, and ovarian cancer survival

    Science.gov (United States)

    Cozzi, Gabriella D.; Levinson, Rebecca T.; Toole, Hilary; Snyder, Malcolm-Robert; Deng, Angie; Crispens, Marta A.; Khabele, Dineo; Beeghly-Fadiel, Alicia

    2017-01-01

    Objective Blood type A and the A1 allele have been associated with increased ovarian cancer risk. With only two small studies published to date, evidence for an association between ABO blood type and ovarian cancer survival is limited. Methods We conducted a retrospective cohort study of Tumor Registry confirmed ovarian cancer cases from the Vanderbilt University Medical Center with blood type from linked laboratory reports and ABO variants from linked Illumina Exome BeadChip data. Associations with overall survival (OS) were quantified by hazard ratios (HR) and confidence intervals (CI) from proportional hazards regression models; covariates included age, race, stage, grade, histologic subtype, and year of diagnosis. Results ABO phenotype (N = 694) and/or genotype (N = 154) data were available for 713 predominantly Caucasian (89.3%) cases. In multivariable models, blood type A had significantly better OS compared to either O (HR: 0.75, 95% CI: 0.60–0.93) or all non-A (HR: 0.77, 95% CI: 0.63–0.94) cases. Similarly, missense rs1053878 minor allele carriers (A2) had better OS (HR: 0.50, 95% CI: 0.25–0.99). Among Caucasians, this phenotype association was strengthened, but the genotype association was attenuated; instead, four variants sharing moderate linkage disequilibrium with the O variant were associated with better OS (HR: 0.62, 95% CI: 0.39–0.99) in unadjusted models. Conclusions Blood type A was significantly associated with longer ovarian cancer survival in the largest such study to date. This finding was supported by genetic analysis, which implicated the A2 allele, although O related variants also had suggestive associations. Further research on ABO and ovarian cancer survival is warranted. PMID:28448592

  8. Transstyloid, transscaphoid, transcapitate fracture: a variant of scaphocapitate fractures.

    LENUS (Irish Health Repository)

    Burke, Neil G

    2014-01-01

    Transstyloid, transscaphoid, transcapitate fractures are uncommon. We report the case of a 28-year-old man who sustained this fracture following direct trauma. The patient was successfully treated by open reduction internal fixation of the scaphoid and proximal capitate fragment, with a good clinical outcome at 1-year follow-up. This pattern is a new variant of scaphocapitate fracture as involves a fracture of the radial styloid as well.

  9. Molecular basis for Duarte and Los Angeles variant galactosemia

    Energy Technology Data Exchange (ETDEWEB)

    Langley, S.D.; Lai, K.; Dembure, P.P. [Emory Univ. School of Medicine, Atlanta, GA (United States)] [and others

    1997-02-01

    Human erythrocytes that are homozygous for the Duarte enzyme variant of galactosemia (D/D) have a characteristic isoform on isoelectric focusing and 50% reduction in galactose-1-phosphate uridyltransferase (GALT) enzyme activity. The Duarte biochemical phenotype has a molecular genotype of N314D/N314D. The characteristic Duarte isoform is also associated with a variant called the {open_quotes}Los Angeles (LA) phenotype,{close_quotes} which has increased GALT enzyme activity. We evaluated GALT enzyme activity and screened the GALT genes of 145 patients with one or more N314D-containing alleles. We found seven with the LA biochemical phenotype, and all had a 1721C{r_arrow}T transition in exon 7 in cis with the N314D missense mutation. The 1721C{r_arrow}T transition is a neutral polymorphism for leucine at amino acid 218 (L218L). In pedigree analyses, this 1721C{r_arrow}T transition segregated with the LA phenotype of increased GALT activity in three different biochemical phenotypes (LA/N, LA/G, and LA/D). To determine the mechanism for increased activity of the LA variant, we compared GALT mRNA, protein abundance, and enzyme thermal stability in lymphoblast cell lines of D and LA phenotypes with comparable genotypes. GALT protein abundance was increased in LA compared to D alleles, but mRNA was similar among all genotypes. We conclude that the codon change N314D in cis with the base-pair transition 1721C{r_arrow}T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability. A favorable codon bias for the mutated codon with consequently increased translation rates is postulated as the mechanism. 23 refs., 3 figs., 4 tabs.

  10. Three familial cases of Pasini variant of dominant dystrophic epidermolysis

    Directory of Open Access Journals (Sweden)

    Seirafi H

    1999-07-01

    Full Text Available Epidermolysis bullosa (EB is the term applied to a group of disorders whose common primary feature is the formation of blisters following trivial trauma. Hereditary EB comprises 3 major classes: simplex, junctional and dystrophic, and includes more than 23 phenotypes. The albopapuloid pasini variant of dominant dystrophic EB is characterized by a distinctive clinical appearance. In this article, we report this disease in three members of a family (father and two sons.

  11. A review of velocity-type PSO variants

    OpenAIRE

    Ivo Sousa-Ferreira; Duarte Sousa

    2017-01-01

    This paper presents a review of the particular variants of particle swarm optimization, based on the velocity-type class. The original particle swarm optimization algorithm was developed as an unconstrained optimization technique, which lacks a model that is able to handle constrained optimization problems. The particle swarm optimization and its inapplicability in constrained optimization problems are solved using the dynamic-objective constraint-handling method. The dynamic-objective constr...

  12. Enterococcus faecium small colony variant endocarditis in an immunocompetent patient

    Directory of Open Access Journals (Sweden)

    S. Hernández Egido

    2016-01-01

    Full Text Available Small colony variants (SCV are slow-growing subpopulations of bacteria usually associated with auxotrophism, causing persistent or recurrent infections. Enterococcus faecalis SCV have been seldom described, and only one case of Enterococcus faecium SCV has been reported, associated with sepsis in a leukaemia patient. Here we report the first case described of bacteraemia and endocarditis by SCV E. faecium in an immunocompetent patient.

  13. Blood type, ABO genetic variants, and ovarian cancer survival.

    Directory of Open Access Journals (Sweden)

    Gabriella D Cozzi

    Full Text Available Blood type A and the A1 allele have been associated with increased ovarian cancer risk. With only two small studies published to date, evidence for an association between ABO blood type and ovarian cancer survival is limited.We conducted a retrospective cohort study of Tumor Registry confirmed ovarian cancer cases from the Vanderbilt University Medical Center with blood type from linked laboratory reports and ABO variants from linked Illumina Exome BeadChip data. Associations with overall survival (OS were quantified by hazard ratios (HR and confidence intervals (CI from proportional hazards regression models; covariates included age, race, stage, grade, histologic subtype, and year of diagnosis.ABO phenotype (N = 694 and/or genotype (N = 154 data were available for 713 predominantly Caucasian (89.3% cases. In multivariable models, blood type A had significantly better OS compared to either O (HR: 0.75, 95% CI: 0.60-0.93 or all non-A (HR: 0.77, 95% CI: 0.63-0.94 cases. Similarly, missense rs1053878 minor allele carriers (A2 had better OS (HR: 0.50, 95% CI: 0.25-0.99. Among Caucasians, this phenotype association was strengthened, but the genotype association was attenuated; instead, four variants sharing moderate linkage disequilibrium with the O variant were associated with better OS (HR: 0.62, 95% CI: 0.39-0.99 in unadjusted models.Blood type A was significantly associated with longer ovarian cancer survival in the largest such study to date. This finding was supported by genetic analysis, which implicated the A2 allele, although O related variants also had suggestive associations. Further research on ABO and ovarian cancer survival is warranted.

  14. ToTem: a tool for variant calling pipeline optimization.

    Science.gov (United States)

    Tom, Nikola; Tom, Ondrej; Malcikova, Jitka; Pavlova, Sarka; Kubesova, Blanka; Rausch, Tobias; Kolarik, Miroslav; Benes, Vladimir; Bystry, Vojtech; Pospisilova, Sarka

    2018-06-26

    High-throughput bioinformatics analyses of next generation sequencing (NGS) data often require challenging pipeline optimization. The key problem is choosing appropriate tools and selecting the best parameters for optimal precision and recall. Here we introduce ToTem, a tool for automated pipeline optimization. ToTem is a stand-alone web application with a comprehensive graphical user interface (GUI). ToTem is written in Java and PHP with an underlying connection to a MySQL database. Its primary role is to automatically generate, execute and benchmark different variant calling pipeline settings. Our tool allows an analysis to be started from any level of the process and with the possibility of plugging almost any tool or code. To prevent an over-fitting of pipeline parameters, ToTem ensures the reproducibility of these by using cross validation techniques that penalize the final precision, recall and F-measure. The results are interpreted as interactive graphs and tables allowing an optimal pipeline to be selected, based on the user's priorities. Using ToTem, we were able to optimize somatic variant calling from ultra-deep targeted gene sequencing (TGS) data and germline variant detection in whole genome sequencing (WGS) data. ToTem is a tool for automated pipeline optimization which is freely available as a web application at  https://totem.software .

  15. Human genomic disease variants: a neutral evolutionary explanation.

    Science.gov (United States)

    Dudley, Joel T; Kim, Yuseob; Liu, Li; Markov, Glenn J; Gerold, Kristyn; Chen, Rong; Butte, Atul J; Kumar, Sudhir

    2012-08-01

    Many perspectives on the role of evolution in human health include nonempirical assumptions concerning the adaptive evolutionary origins of human diseases. Evolutionary analyses of the increasing wealth of clinical and population genomic data have begun to challenge these presumptions. In order to systematically evaluate such claims, the time has come to build a common framework for an empirical and intellectual unification of evolution and modern medicine. We review the emerging evidence and provide a supporting conceptual framework that establishes the classical neutral theory of molecular evolution (NTME) as the basis for evaluating disease- associated genomic variations in health and medicine. For over a decade, the NTME has already explained the origins and distribution of variants implicated in diseases and has illuminated the power of evolutionary thinking in genomic medicine. We suggest that a majority of disease variants in modern populations will have neutral evolutionary origins (previously neutral), with a relatively smaller fraction exhibiting adaptive evolutionary origins (previously adaptive). This pattern is expected to hold true for common as well as rare disease variants. Ultimately, a neutral evolutionary perspective will provide medicine with an informative and actionable framework that enables objective clinical assessment beyond convenient tendencies to invoke past adaptive events in human history as a root cause of human disease.

  16. Engineered Cpf1 variants with altered PAM specificities.

    Science.gov (United States)

    Gao, Linyi; Cox, David B T; Yan, Winston X; Manteiga, John C; Schneider, Martin W; Yamano, Takashi; Nishimasu, Hiroshi; Nureki, Osamu; Crosetto, Nicola; Zhang, Feng

    2017-08-01

    The RNA-guided endonuclease Cpf1 is a promising tool for genome editing in eukaryotic cells. However, the utility of the commonly used Acidaminococcus sp. BV3L6 Cpf1 (AsCpf1) and Lachnospiraceae bacterium ND2006 Cpf1 (LbCpf1) is limited by their requirement of a TTTV protospacer adjacent motif (PAM) in the DNA substrate. To address this limitation, we performed a structure-guided mutagenesis screen to increase the targeting range of Cpf1. We engineered two AsCpf1 variants carrying the mutations S542R/K607R and S542R/K548V/N552R, which recognize TYCV and TATV PAMs, respectively, with enhanced activities in vitro and in human cells. Genome-wide assessment of off-target activity using BLISS indicated that these variants retain high DNA-targeting specificity, which we further improved by introducing an additional non-PAM-interacting mutation. Introducing the identified PAM-interacting mutations at their corresponding positions in LbCpf1 similarly altered its PAM specificity. Together, these variants increase the targeting range of Cpf1 by approximately threefold in human coding sequences to one cleavage site per ∼11 bp.

  17. Analysis of carboxylesterase 2 transcript variants in cynomolgus macaque liver.

    Science.gov (United States)

    Uno, Yasuhiro; Igawa, Yoshiyuki; Tanaka, Maori; Ohura, Kayoko; Hosokawa, Masakiyo; Imai, Teruko

    2018-04-27

    Carboxylesterase (CES) is important for the detoxification of a wide range of drugs and xenobiotics. In this study, the hepatic level of CES2 mRNA was examined in cynomolgus macaques used widely in preclinical studies for drug metabolism. Three CES2 mRNAs were present in cynomolgus macaque liver. The mRNA level was highest for cynomolgus CES2A (formerly CES2v3), much lower for cynomolgus CES2B (formerly CES2v1) and extremely low for cynomolgus CES2C (formerly CES2v2). Most various transcript variants produced from cynomolgus CES2B gene did not contain a complete coding region. Thus, CES2A is the major CES2 enzyme in cynomolgus liver. A new transcript variant of CES2A, CES2Av2, was identified. CES2Av2 contained exon 3 region different from wild-type (CES2Av1). In cynomolgus macaques expressing only CES2Av2 transcript, CES2A contained the sequence of CES2B in exon 3 and vicinity, probably due to gene conversion. On genotyping, this CES2Av2 allele was prevalent in Indochinese cynomolgus macaques, but not in Indonesian cynomolgus or rhesus macaques. CES2Av2 recombinant protein showed similar activity to CES2Av1 protein for several substrates. It is concluded that CES2A is the major cynomolgus hepatic CES2, and new transcript variant, CES2Av2, has similar functions to CES2Av1.

  18. [Clinical and morphological variants of diverticular disease in colon].

    Science.gov (United States)

    Levchenko, S V; Lazebnik, L B; Potapova, V B; Rogozina, V A

    2013-01-01

    Our own results of two-stage research are presented in the article. The first stage contains the retrospective analysis of 3682 X-ray examining of large bowel which were conducted in 2002-2004 to define the structure of colon disease and to determine gender differences. The second stage is prospective research which took place from 2003 to 2012 and 486 patients with diverticular disease were regularly observed. Following parameters were estimated: dynamics of complaints, life quality, clinical symptoms. Multiple X-ray and endoscopic examining were done with estimation of quantity and size of diverticula, changes of colon mucosa, comparison of X-ray and endoscopic methods in prognosis of complications. Two basic clinical morphological variants of diverticular disease (DD) of colon are made out as a result of our research. There are IBD-like and DD with ischemic component. The variants differ by pain characteristics, presence of accompanying diseases, life quality parameters and description of colon mucosa morphological research. We suppose that different ethiopathogenetic factors of development of both variants mentioned above influence the disease prognosis and selection of treatment.

  19. Quantifying evolutionary dynamics from variant-frequency time series

    Science.gov (United States)

    Khatri, Bhavin S.

    2016-09-01

    From Kimura’s neutral theory of protein evolution to Hubbell’s neutral theory of biodiversity, quantifying the relative importance of neutrality versus selection has long been a basic question in evolutionary biology and ecology. With deep sequencing technologies, this question is taking on a new form: given a time-series of the frequency of different variants in a population, what is the likelihood that the observation has arisen due to selection or neutrality? To tackle the 2-variant case, we exploit Fisher’s angular transformation, which despite being discovered by Ronald Fisher a century ago, has remained an intellectual curiosity. We show together with a heuristic approach it provides a simple solution for the transition probability density at short times, including drift, selection and mutation. Our results show under that under strong selection and sufficiently frequent sampling these evolutionary parameters can be accurately determined from simulation data and so they provide a theoretical basis for techniques to detect selection from variant or polymorphism frequency time-series.

  20. Characterization of Hb Lepore variants in the UK population.

    Science.gov (United States)

    Guo, Lina; Kausar, Anika; Old, John M; Henderson, Shirley J; Gallienne, Alice E

    2015-01-01

    A molecular study of Hb Lepore heterozygotes identified by the UK population screening program has revealed four out of the five known Lepore variants. The region of homologous δ- and β-globin gene sequence was determined in 58 unrelated Hb Lepore heterozygotes referred for confirmation of their carrier status by DNA analysis through the national thalassemia and sickle cell screening program over a period of 10 years. The most common variant found was Hb Lepore-Boston-Washington (Hb LBW, HBD: c.265 C > c.315 + 7 C) observed in 46 carriers (79.0%). Hb Lepore-Hollandia (HBD: c.69 A > c.92 + 16 A) was found in nine cases (16.0%); Hb Lepore-Baltimore (HBD: c.208 G > c.254 C) in two cases (4.0%) and Hb Lepore-ARUP (HBD: c.97 C > c.150 C) in one carrier (2.0%). Analysis of the hematological findings showed no significant differences between the four groups. The wide range of Hb Lepore variants observed in this study confirms the very diverse range of α- and β-globin gene mutations observed in the UK population by previous studies.