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Sample records for epitelioide una variante

  1. Angiosarcoma epitelioide de vesícula: presentación de un caso y revisión bibliográfica

    OpenAIRE

    P. Sánchez Acedo; J. Herrera Cabezón; A. Tarifa Castilla; C. Zazpe Ripa; J.M. Lera Tricas

    2015-01-01

    El angiosarcoma de vesícula es una patología poco frecuente pero con una alta morbi-mortalidad del que sólo hay 10 referencias en la literatura internacional. Presentamos un caso tratado en nuestro centro y realizamos una revisión de los casos publicados desde 1956. Paciente varón de 81 años con dolor abdominal, astenia y disnea. Analíticamente anemia y leucocitosis. En la exploración destacaba un abdomen distendido, doloroso en hipocondrio derecho, con defensa. Se solicitó ecografía abdomina...

  2. EL EXPERIMENTO DEMOSTRATIVO EN LAS CLASES DE CIENCIAS NATURALES DE SECUNDARIA BÁSICA: UNA VARIANTE METODOLÓGICA PARA SU DESARROLLO Y PERFECCIONAMIENTO

    Directory of Open Access Journals (Sweden)

    Danay Bellot Naranjo

    Full Text Available Resumen: En las ciencias es característico el proceso de surgimiento, desarrollo y decadencia de corrientes, tendencias o ideas más o menos generalizadas o importantes que marcan una cualidad en el desarrollo del pensamiento científico. La escuela cubana contemporânea, haciéndose eco de la necesidad de profundas transformaciones en correspondencia con el vertiginoso avance de la ciencia y de la técnica, ha asumido el paradigma de Integración en el Proceso Formativo de sus nuevas generaciones. Una vía de materialización de estas aspiraciones lo constituye el tratamiento metodológico de la actividad experimental en las Ciencias Naturales y, específicamente, el experimento demostrativo. El objetivo del presente trabajo está encaminado a disenar una variante metodológica que contribuya al perfeccionamiento del experimento demostrativo en las clases de Ciencias Naturales de Secundaria Básica sobre la base de las características, requisitos, organización del mismo, la actividad del profesor y del alumno. La validación de la variante metodológica de referencia fue realizada mediante el criterio de expertos, quienes corroboraron la factibilidad de la propuesta, al igual que el sistema de métodos y técnica empleados. Como resultado se exhibe una metodología para el desarrollo de los experimentos demostrativos, en las asignaturas de Ciencias Naturales.

  3. Los platos de borde perlado de sigillata africana D1 o forma Hayes 56 variante: una propuesta tipológica

    Directory of Open Access Journals (Sweden)

    Uscatescu, Alexandra

    2005-12-01

    Full Text Available This paper analyses a particular series of mould-made African Red Slip ware D1 sherds that exhibit a characteristic beading decoration along the rim. The available data are extremely fragmentary, since just a pair of nearly complete examples is known. Therefore, this typological proposal is based on several morphological variations detected on this kind of sherds, as well as, on some features borrowed from certain silverware prototypes. Both approaches allow three basic models to be established that could be rendered into a like number of different morphological variants for the socalled 'Hayes 56 flat-based variant'. On chronological grounds, a comprehensive review of the archaeological contexts, where this kind of sherds are found, points to a date of ca. 400/425-475, correcting the chronological framework previously established for this North African vessel.Este artículo aborda el análisis de una serie de fragmentos de sigillata africana D' fabricados a molde y que muestran una decoración perlada que discurre a lo largo de su borde. La documentación disponible es extremadamente fragmentaria, pues sólo se conocen un par de ejemplares más o menos completos; así que la presente propuesta tipológica se fundamenta en las variaciones que se detectan en los fragmentos de este tipo, así como en su parecido con ciertos prototipos de la vajilla argéntea. Ambos criterios han permitido establecer tres modelos básicos que se traducirían en otras tantas variantes morfológicas de la forma 'Hayes 56 variante’. Desde el punto de vista cronológico, la revisión exhaustiva de los contextos arqueológicos donde se documenta este tipo de piezas sugiere una datación de ca. 400/425-475, corrigiendo los márgenes cronológicos anteriormente establecidos para este recipiente norteafricano.

  4. Enfermedad hemorrágica del conejo: implicaciones de la aparición de una nueva variante

    OpenAIRE

    Casais, Rosa; Dalton, K.P. (Kevin); Balseiro, Ana; Parra, J.F. (José); Prieto, J.M. (José)

    2016-01-01

    La enfermedad hemorrágica del conejo (RHD, del inglés rabbit haemorrhagic disease) es una patología infecciosa grave del conejo europeo (Oryctolagus cuniculus), descrita por primera vez a nivel mundial en 1984 en la República Popular de China (Liu et al, 1984). En la actualidad la RHD es endémica en la mayor parte de Europa, Asia, norte de África y Oceanía. En Australia y Nueva Zelanda el virus causal de la enfermedad se introdujo de forma deliberada como a...

  5. 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.

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

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    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

  7. Características de una línea celular de crecimiento continuo de Aedes taeniorhynchus (Diptera: Culicidae

    Directory of Open Access Journals (Sweden)

    Felio J. Bello

    1996-01-01

    Full Text Available Se estableció una nueva línea celular, LSB-AT0793, a partir de tejidos embrionarios del mosquito Aedes taeniorhynchus. El primer subcultivo se inició en julio de 1993 y hasta la fecha, octubre de 1995, se han efectuado 360 pases. El medio de cultivo utilizado para el crecimiento y mantenimiento de las células fue MMNP12, con un pH de 6,8 y una temperatura promedio de 28°C. La mayoría de las células en las monocapas confluentes fueron de formas epitelioides. Se reconocieron las características del cariotipo de la especie y se establecieron los patrones de bandas C y G. Se determinaron los perfiles isoenzimáticos de la línea celular, utilizando cuatro sistemas diferentes: PGI, PGM, MPI y 6-PGDH, los cuales coincidieron con los patrones obtenidos a partir de extractos de pupas de la especie. También, se compararon los perfiles isoenzimáticos de la presente Iínea celular con los de Anopheles albimanus y con los del clon C6136. Se demostró que las células están libres de bacterias y hongos. Se estandarizó la técnica de congelación en nitrógeno líquido en donde se mantienen varios subcultivos en diferentes pases.

  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. 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

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    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

  10. Desmoplastic variant of ameloblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Sohn, Jeong Ick; Kim, Dong Youn; Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

    1995-02-15

    Desmoplastic variant of ameloblastoma is new and unusual variant of ameloblastoma with extensive stromal desmoplastic proliferation. The authors experienced a case of desmoplastic variant of amleloblastoma with moderate-defined radiolucency on the right maxillary anterior area in 62-year-old female. As a result of careful analysis of clinical, radiological examinations, we diagnosed it as desmoplastic variant of ameloblastoma. The following results were obtained; 1. Main clinical symptoms were nontender bony swelling with normal intact overlying mucosa on the right maxillary anterior area. 2. Radiographically, moderate-defined, multilocular radioluceney on the right maxillary anterior area were shown, and severe cortical bony thinning and expansion to labial and palatal sides were also observed. And this lesion was shown to be extended to the right nasal cavity. 3. Histopathologically, follicle-like epithelial islands with densely abundant collagenous stroma were morphologically compressed.

  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. Hemoglobin Variants in Mice

    Energy Technology Data Exchange (ETDEWEB)

    Popp, Raymond A.

    1965-04-22

    Variability among mammalian hemoglobins was observed many years ago (35). The chemical basis for differences among hemoglobins from different species of mammals has been studied by several investigators (5, 11, 18, 48). As well as interspecies differences, hemoglobin variants are frequently found within a species of mammals (2, 3, 7, 16) The inheritance of these intraspecies variants can be studied, and pedigrees indicate that the type of hemoglobin synthesized in an individual is genetically controlled (20). Several of the variant human hemoglobins are f'unctionally deficient (7, 16). Such hemoglobin anomalies are of basic interest to man because of the vital role of hemoglobin for transporting oxygen to all tissues of the body.

  13. [Histone variants and histone exchange].

    Science.gov (United States)

    Wu, Nan; Gui, Jian-Fang

    2006-04-01

    Histones, as the basic components of nucleosome, are essential to chromatin structure and function. To adapt to various states of chromatin, corresponding histone variants are incorporated in nucleosome, and certain modifications also occur on the variants' tails. These variants change the conformation and stability of nucleosome to facilitate transcriptional activation or deactivation, DNA repairing, heterochromatin formation, and others. During histone exchange, chromatin remodeling complex facilitates histone variant deposition into nucleosome, and different variants have diverse deposition pathways. Recently, research on histone variants is not only a new hotspot in epigenetics, but also a new annotation of "histone code". In addition, histone exchange reveals new changing mechanism of DNA-histone interaction.

  14. 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

  15. VARIANT project - further progress

    Science.gov (United States)

    Korepanov, V.; Negoda, O.; Alleyne, H.; Balikhin, M.; Fedorov, A.; Juchniewicz, J.; Klimov, S.; Krasnoselskikh, V.; Lefeuvre, F.; Lizunov, G.

    VARIANT is a joint international space experiment which will be performed onboard the Ukrainian remote sensing satellite SICH-1M, that will be launched in 2003 at the polar circular orbit with the altitude 670s30 km. The scientific payload includes three instruments for registration of space current density: split Langmuir probe, Rogovski coil and Faraday cup. The equipment also includes sensors for measurements of electric and magnetic fields in the frequency range from DC to 40 kHz. Main objectives of the VARIANT mission are as follows: u direct comparison of the spectral characteristics of the electric and magnetic fields with the characteristics of the field aligned currents in the polar regions; mapping of the field aligned current distribution; u comparative study of the field aligned current structures with the characteristics of the ionospheric convection observed by the system of radars SuperDARN; u comparative study of technological problems associated with different techniques of current density measurements; and the secondary objectives are: u active experiments with the onboard radar; registration of the signatures of the seismo-active and volcanic phenomena; investigation of the man-made impact upon the ionosphere (anthropogenichazards, pollution, etc). Recent space experiments tendency U smaller and cheaper U stimulated the new approach to the functions division between scientific instruments and DPU. The peculiarities of such approach and the practical example of onboard DPU for VARIANT experiment to be launched next year are reported. Flight model of the VARIANT instrument is already installed onboard the satellite and successfully tested. The methodological questions of the spatial current density direct measurement in space plasma are constantly studied and recent advances in this branch, as well as the experimental tests results are discussed. This work was partially supported by NSAU contract 1221 and INTAS grant 2000-465.

  16. Variants of glycoside hydrolases

    Energy Technology Data Exchange (ETDEWEB)

    Teter, Sarah; Ward, Connie; Cherry, Joel; Jones, Aubrey; Harris, Paul; Yi, Jung

    2017-07-11

    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. Identification of HPV variants.

    Science.gov (United States)

    Cason, John; Bible, Jon; Mant, Christine

    2005-01-01

    The vast majority of anogenital carcinomas are caused by high-risk human papillomaviruses (HPVs), and among Western nations HPV-16 is usually the most predominant cancer-associated type. As a DNA virus, HPV type 16 has a relatively stable genome that is believed to have co-evolved with its host over the millennia. Nevertheless, among the "wild" populations of HPV-16 that are circulating, a large number of variants have been identified, and these may have considerably different pathogenic potentials. In this chapter, methods for screening and characterizing HPV-16 sequence variants are described. In particular, we describe methods for the identification of variation within the HPV-16 E5 open reading frame and for the detection of the nt 131 A-->G mutation of the E6 ORF, using restriction fragment length polymorphism assays. In addition, we describe approaches for DNA sequencing and analysis. Such methods are likely to be of particular interest to those involved in epidemiological investigations of virus transmission and pathogenicity studies.

  18. Variants of windmill nystagmus.

    Science.gov (United States)

    Choi, Kwang-Dong; Shin, Hae Kyung; Kim, Ji-Soo; Kim, Sung-Hee; Choi, Jae-Hwan; Kim, Hyo-Jung; Zee, David S

    2016-07-01

    Windmill nystagmus is characterized by a clock-like rotation of the beating direction of a jerk nystagmus suggesting separate horizontal and vertical oscillators, usually 90° out of phase. We report oculographic characteristics in three patients with variants of windmill nystagmus in whom the common denominator was profound visual loss due to retinal diseases. Two patients showed a clock-like pattern, while in the third, the nystagmus was largely diagonal (in phase or 180° out of phase) but also periodically changed direction by 180°. We hypothesize that windmill nystagmus is a unique manifestation of "eye movements of the blind." It emerges when the central structures, including the cerebellum, that normally keep eye movements calibrated and gaze steady can no longer perform their task, because they are deprived of the retinal image motion that signals a need for adaptive recalibration.

  19. Variants of beta-glucosidase

    Energy Technology Data Exchange (ETDEWEB)

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2015-07-14

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  20. Variants of beta-glucosidases

    Energy Technology Data Exchange (ETDEWEB)

    Fidantsef, Ana; Lamsa, Michael; Gorre-Clancy, Brian

    2014-10-07

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  1. Variants of beta-glucosidase

    Science.gov (United States)

    Fidantsef, Ana [Davis, CA; Lamsa, Michael [Davis, CA; Gorre-Clancy, Brian [Elk Grove, CA

    2009-12-29

    The present invention relates to variants of a parent beta-glucosidase, comprising a substitution at one or more positions corresponding to positions 142, 183, 266, and 703 of amino acids 1 to 842 of SEQ ID NO: 2 or corresponding to positions 142, 183, 266, and 705 of amino acids 1 to 844 of SEQ ID NO: 70, wherein the variant has beta-glucosidase activity. The present invention also relates to nucleotide sequences encoding the variant beta-glucosidases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  2. 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......, assemblies, and parts. Implementation in an industrial company shows that considerable rationalisation effects can be achieved...

  3. Variant view: visualizing sequence variants in their gene context.

    Science.gov (United States)

    Ferstay, Joel A; Nielsen, Cydney B; Munzner, Tamara

    2013-12-01

    Scientists use DNA sequence differences between an individual's genome and a standard reference genome to study the genetic basis of disease. Such differences are called sequence variants, and determining their impact in the cell is difficult because it requires reasoning about both the type and location of the variant across several levels of biological context. In this design study, we worked with four analysts to design a visualization tool supporting variant impact assessment for three different tasks. We contribute data and task abstractions for the problem of variant impact assessment, and the carefully justified design and implementation of the Variant View tool. Variant View features an information-dense visual encoding that provides maximal information at the overview level, in contrast to the extensive navigation required by currently-prevalent genome browsers. We provide initial evidence that the tool simplified and accelerated workflows for these three tasks through three case studies. Finally, we reflect on the lessons learned in creating and refining data and task abstractions that allow for concise overviews of sprawling information spaces that can reduce or remove the need for the memory-intensive use of navigation.

  4. Gene Variants Reduce Opioid Risks

    Science.gov (United States)

    ... common variant (A). Text Description of Graphic Genetic Markers for Individualized Treatments Dr. Jamie Biswas, Chief of ... other health and disease indications—such as cancer, heart disease, and opportunistic infections.” The studies were supported by ...

  5. 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

  6. China, una nueva apuesta

    OpenAIRE

    David Soto Bello

    2014-01-01

    Un publico, una hisotria Mr. China es una historia ineludible para los hombres de negocios; aún más, sí uno de sus mercados es el oeste asiático. Por otro lado, es una recomendación para los interesados sobre la apertura económica de China en la década de los noventa; cuando banqueros y empresarios irrumpieronen el coloso asiático, con el propósito de estructurar uno de los mercados más prometedores del mundo.

  7. Certain variants of multipermutohedron ideals

    Indian Academy of Sciences (India)

    016-0313-4. Certain variants of multipermutohedron ideals. AJAY KUMAR1,2 and CHANCHAL KUMAR1,∗. 1Indian Institute of ... 2010 Mathematics Subject Classification. 05E40 .... eral questions and conjectures from [10] and [5]. In particular ...

  8. La gripe A en la prensa portuguesa : una pandemia medianamente controlada por las fuentes oficiales

    OpenAIRE

    Ruão, Teresa; Lopes, Felisbela; Marinho, Sandra

    2012-01-01

    En el 2009, la posibilidad de una pandemia de gripe llamo la atención de los medios. Los primeros relatos surgieron en el mes de marzo y se referían al aparecimiento de una nueva variante de la gripe humana común, en México. En abril, la Organización Mundial de la Salud (OMS) se refirió a la enfermedad como “Gripe A, H1N1” y decreto una alerta pandemica. La posibilidad de una pandemia y sus consecuencias para la población mundial se volvió asunto prioritario para las autoridades de la Salud P...

  9. Hacia una huella digital robusta para imágenes y video

    OpenAIRE

    Fernández, Jacqueline; Miranda, Natalia Carolina; Guerrero, Roberto A.; Piccoli, María Fabiana; Chávez, Edgar

    2008-01-01

    Consideremos como objetos digitales las modulaciones en el tiempo y el espacio de una señal digital. Nos interesa poder identificar dos variantes coherentes del mismo objeto. Para nuestros fines, en una dimensión el objeto es una señal de audio, en dos una fotografía y en tres dimensiones un video. Consideraremos que el objeto está formado por marcos o arreglos d-dimensionales (d = 1, 2, 3) de muestras de la señal. Las versiones de los objetos consisten en perturbaciones coherentes; es decir,...

  10. 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.

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

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    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.

  12. Mochileros: una carga pesada.

    OpenAIRE

    Barrenechea, Laura; Tapia Cabanillas, Luis

    2016-01-01

    El objetivo del estudio fue conocer el contexto de vida previo, presente y expectativas de futuro en una muestra de jóvenes dedicados al transporte de drogas, como mochileros, en el VRAEM (circuito Ayacucho-Andahuaylas).

  13. Historia de una histeria

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    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.

  14. 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 Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend ...

  15. Semantic prioritization of novel causative genomic variants

    OpenAIRE

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

    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 rea...

  16. DHAD variants and methods of screening

    Energy Technology Data Exchange (ETDEWEB)

    Kelly, Kristen J.; Ye, Rick W.

    2017-02-28

    Methods of screening for dihydroxy-acid dehydratase (DHAD) variants that display increased DHAD activity are disclosed, along with DHAD variants identified by these methods. Such enzymes can result in increased production of compounds from DHAD requiring biosynthetic pathways. Also disclosed are isolated nucleic acids encoding the DHAD variants, recombinant host cells comprising the isolated nucleic acid molecules, and methods of producing butanol.

  17. Variant Humicola grisea CBH1.1

    Energy Technology Data Exchange (ETDEWEB)

    Goedegebuur, Frits; Gualfetti, Peter; Mitchinson, Colin; Larenas, Edmund

    2017-05-09

    Disclosed are variants of Humicola grisea CeI7A (CBH1.1), H. jecorina CBH1 variant or S. thermophilium CBH1, nucleic acids encoding the same and methods for producing the same. The variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted.

  18. Coronary artery anatomy and variants.

    Science.gov (United States)

    Malagò, Roberto; Pezzato, Andrea; Barbiani, Camilla; Alfonsi, Ugolino; Nicolì, Lisa; Caliari, Giuliana; Pozzi Mucelli, Roberto

    2011-12-01

    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.

  19. 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.)

  20. Clinicopathologic Variants of Mycosis Fungoides.

    Science.gov (United States)

    Muñoz-González, H; Molina-Ruiz, A M; Requena, L

    2017-04-01

    Mycosis fungoides (MF) is the most common primary cutaneous T-cell lymphoma. The clinical course of the disease is typically characterized by progression from a nonspecific phase of erythematous macules to the appearance of plaques and ultimately, in some patients, tumors. However, numerous clinical and histopathologic variants of MF with specific therapeutic and prognostic implications have been described in recent decades. Clarification of the differential diagnosis can be frustrated by the wide range of clinical manifestations and histopathologic patterns of cutaneous infiltration, particularly in the early phases of the disease. In this paper, we review the main clinical, histopathologic, and immunohistochemical characteristics of the variants of MF described in the literature in order to facilitate early diagnosis of the disease. Copyright © 2016 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. Microcystic Variant of Urothelial Carcinoma

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    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.

  2. Una herencia sin testamento

    Directory of Open Access Journals (Sweden)

    Françoise Collin

    2013-11-01

    Full Text Available En el presente trabajo Françoise Collin reflexiona sobre el concepto “transmisión” y su papel a la hora de construir una relación simbólica entre distintas generaciones de mujeres. Vinculada a la historia y a la idea de afiliación, constituye además una posibilidad política y ética que puede renovar el feminismo y ayudar a la constitución de un espacio simbólico compartido entre mujeres y hombres.

  3. Variant Interpretation: Functional Assays to the Rescue.

    Science.gov (United States)

    Starita, Lea M; Ahituv, Nadav; Dunham, Maitreya J; Kitzman, Jacob O; Roth, Frederick P; Seelig, Georg; Shendure, Jay; Fowler, Douglas M

    2017-09-07

    Classical genetic approaches for interpreting variants, such as case-control or co-segregation studies, require finding many individuals with each variant. Because the overwhelming majority of variants are present in only a few living humans, this strategy has clear limits. Fully realizing the clinical potential of genetics requires that we accurately infer pathogenicity even for rare or private variation. Many computational approaches to predicting variant effects have been developed, but they can identify only a small fraction of pathogenic variants with the high confidence that is required in the clinic. Experimentally measuring a variant's functional consequences can provide clearer guidance, but individual assays performed only after the discovery of the variant are both time and resource intensive. Here, we discuss how multiplex assays of variant effect (MAVEs) can be used to measure the functional consequences of all possible variants in disease-relevant loci for a variety of molecular and cellular phenotypes. The resulting large-scale functional data can be combined with machine learning and clinical knowledge for the development of "lookup tables" of accurate pathogenicity predictions. A coordinated effort to produce, analyze, and disseminate large-scale functional data generated by multiplex assays could be essential to addressing the variant-interpretation crisis. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  4. Gardner's Minichess Variant is solved

    OpenAIRE

    Mhalla, Mehdi; Prost, Frederic

    2013-01-01

    A 5x5 board is the smallest board on which one can set up all kind of chess pieces as a start position. We consider Gardner's minichess variant in which all pieces are set as in a standard chessboard (from Rook to King). This game has roughly 9x10^{18} legal positions and is comparable in this respect with checkers. We weakly solve this game, that is we prove its game-theoretic value and give a strategy to draw against best play for White and Black sides. Our approach requires surprisingly sm...

  5. Histone variants: emerging players in cancer biology

    Science.gov (United States)

    Vardabasso, Chiara; Hasson, Dan; Ratnakumar, Kajan; Chung, Chi-Yeh; Duarte, Luis F.

    2014-01-01

    Histone variants are key players in shaping chromatin structure, and, thus, in regulating fundamental cellular processes such as chromosome segregation and gene expression. Emerging evidence points towards a role for histone variants in contributing to tumor progression, and, recently, the first cancer-associated mutation in a histone variant-encoding gene was reported. In addition, genetic alterations of the histone chaperones that specifically regulate chromatin incorporation of histone variants are rapidly being uncovered in numerous cancers. Collectively, these findings implicate histone variants as potential drivers of cancer initiation and/or progression, and, therefore, targeting histone deposition or the chromatin remodeling machinery may be of therapeutic value. Here, we review the mammalian histone variants of the H2A and H3 families in their respective cellular functions, and their involvement in tumor biology. PMID:23652611

  6. Nested Variant of Urothelial Carcinoma

    Science.gov (United States)

    Venyo, Anthony Kodzo-Grey

    2014-01-01

    Background. Nested variant of urothelial carcinoma was added to the WHO's classification in 2004. Aims. To review the literature on nested variant of urothelial carcinoma. Results. About 200 cases of the tumour have been reported so far and it has the ensuing morphological features: large numbers of small confluent irregular nests of bland-appearing, closely packed, haphazardly arranged, and poorly defined urothelial cells infiltrating the lamina propria and the muscularis propria. The tumour has a bland histomorphologic appearance, has an aggressive biological behaviour, and has at times been misdiagnosed as a benign lesion which had led to a significant delay in the establishment of the correct diagnosis and contributing to the advanced stage of the disease. Immunohistochemically, the tumour shares some characteristic features with high-risk conventional urothelial carcinomas such as high proliferation index and loss of p27 expression. However, p53, bcl-2, or EGF-r immunoreactivity is not frequently seen. The tumour must be differentiated from a number of proliferative lesions of the urothelium. Conclusions. Correct and early diagnosis of this tumour is essential to provide early curative treatment to avoid diagnosis at an advanced stage. A multicentre trial is required to identify treatment options that would improve the outcome of this tumour. PMID:24587796

  7. Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.

    Directory of Open Access Journals (Sweden)

    Matthew A Field

    Full Text Available A diversity of tools is available for identification of variants from genome sequence data. Given the current complexity of incorporating external software into a genome analysis infrastructure, a tendency exists to rely on the results from a single tool alone. The quality of the output variant calls is highly variable however, depending on factors such as sequence library quality as well as the choice of short-read aligner, variant caller, and variant caller filtering strategy. Here we present a two-part study first using the high quality 'genome in a bottle' reference set to demonstrate the significant impact the choice of aligner, variant caller, and variant caller filtering strategy has on overall variant call quality and further how certain variant callers outperform others with increased sample contamination, an important consideration when analyzing sequenced cancer samples. This analysis confirms previous work showing that combining variant calls of multiple tools results in the best quality resultant variant set, for either specificity or sensitivity, depending on whether the intersection or union, of all variant calls is used respectively. Second, we analyze a melanoma cell line derived from a control lymphocyte sample to determine whether software choices affect the detection of clinically important melanoma risk-factor variants finding that only one of the three such variants is unanimously detected under all conditions. Finally, we describe a cogent strategy for implementing a clinical variant detection pipeline; a strategy that requires careful software selection, variant caller filtering optimizing, and combined variant calls in order to effectively minimize false negative variants. While implementing such features represents an increase in complexity and computation the results offer indisputable improvements in data quality.

  8. Una mirada casi distante

    Directory of Open Access Journals (Sweden)

    Pablo Francescutti

    2015-03-01

    Full Text Available El inicio de una carrera de investigador en Argentina y su difícil continuación en España dan pie al autor para reflexionar sobre la importancia de las redes sociales en entornos académicos, y sobre la posición de orfandad a la que se ve destinado quien carezca de ellas en circunstancias de emigración. El relato de su trayectoria biográfica le sirve asimismo de hilo conductor para repasar las diferencias entre las instituciones universitarias de ambos países, señalar las inevitables transacciones sobre los objetos de estudio que se deben realizar entre las inclinaciones personales y las necesidades de adaptación, y concluir con una reivindicación de las ventajas de cara a la observación social derivadas de vivir a caballo de dos continentes.

  9. UNA MIRADA CASI DISTANTE

    Directory of Open Access Journals (Sweden)

    Pablo Francescutti

    2015-01-01

    Full Text Available El inicio de una carrera de investigador en Argentina y su difícil continuación en España dan pie al autor para reflexionar sobre la importancia de las redes sociales en entornos académicos, y sobre la posición de orfandad a la que se ve destinado quien carezca de ellas en circunstancias de emigración. El relato de su trayectoria biográfica le sirve asimismo de hilo conductor para repasar las diferencias entre las instituciones universitarias de ambos países, señalar las inevitables transacciones sobre los objetos de estudio que se deben realizar entre las inclinaciones personales y las necesidades de adaptación, y concluir con una reivindicación de las ventajas de cara a la observación social derivadas de vivir a caballo de dos continentes.

  10. Una herencia sin testamento

    OpenAIRE

    Collin, Françoise

    2013-01-01

    En el presente trabajo Françoise Collin reflexiona sobre el concepto “transmisión” y su papel a la hora de construir una relación simbólica entre distintas generaciones de mujeres. Vinculada a la historia y a la idea de afiliación, constituye además una posibilidad política y ética que puede renovar el feminismo y ayudar a la constitución de un espacio simbólico compartido entre mujeres y hombres. In the present essay, Françoise Collin reflects on “transmission” as a concept and on its rol...

  11. Carta sobre una estampilla

    Directory of Open Access Journals (Sweden)

    Luis Navarro

    1962-05-01

    Full Text Available Queridos compañeros colombianos del arte: la última carta que me llega de vuestro país me ha impresionado de forma inesperada tan solo con caer en mis manos, sin rasgar el sobre ni tener tiempo de conocer el remitente. Es una carta como cualquier otra: señor Fulano de Tal, calle cual, Madrid, España.

  12. Una botella llena

    OpenAIRE

    Gutiérrez Mozo, María Elia

    2011-01-01

    Presentación de Ramón Gutiérrez y su conferencia "Le Corbusier en Buenos Aires: Nuevas lecturas sobre el viaje de 1929" en el marco del IV Foro Crítica organizado por el área de conocimiento de Composición Arquitectónica de la Universidad de Alicante y el Colegio Territorial de Arquitectos de Alicante, en 2010, con el título de "Le Corbusier, mensaje en una botella".

  13. una sociedad emergente

    Directory of Open Access Journals (Sweden)

    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

  14. Intersexualidad: una mirada feminista

    OpenAIRE

    Cano Abadía, Mónica

    2012-01-01

    En este artículo se proporciona una perspectiva queer sobre la intersexualidad, teniendo las ideas de Judith Butler como fondo siempre presente para leer a otras tres autoras fundamentales en el estudio de la intersexualidad: Anne Fausto-Sterling, Suzanne Kessler y Alice Dreger. Estas tres autoras realizan interesantes estudios sobre la intersexualidad desde diferentes perspectivas: desde la biología, desde la psicología y desde la historia. Las tres se esfuerzan por cambiar los tratamientos ...

  15. una perspectiva financiera

    Directory of Open Access Journals (Sweden)

    Alejandro Esteller

    2005-01-01

    Full Text Available La introducción de la cesta impositiva ha sido la principal reforma del sistema de financiación autonómica vigente desde enero de 2002. El objetivo de este trabajo es obtener, a partir de unas necesidades básicas de financiación, su composición óptima para cada una de las CCAA de régimen común y para el gobierno central. La optimalidad de esta cesta se obtiene a partir de la minimización de la varianza de la cesta dado un determinado rendimiento impositivo (Markowitz, 1952 y garantizando, a la vez, la suficiencia financiera en el año base. Los resultados que obtenemos al aplicar tal metodología para el período 2002-07 muestran una relativa heterogeneidad entre las CCAA en la composición de la cesta óptima. Cuando del binomio rentabilidad-riesgo financiero se valoran ambos componentes, los impuestos preferidos son el impuesto sobre hidrocarburos, el impuesto sobre el alcohol y el impuesto sobre el tabaco. Dado que estos impuestos especiales no garantizan la suficiencia financiera, éstos se complementan con participaciones en el IVA y en el IRPF. En los casos extremos en que sólo se valora o bien el componente de riesgo o bien el de rentabilidad, respecto de tales participaciones complementarias, las CCAA prefieren el IVA y el IRPF, respectivamente.

  16. 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

  17. Mitochondrial DNA variants in obesity.

    Directory of Open Access Journals (Sweden)

    Nadja Knoll

    Full Text Available Heritability estimates for body mass index (BMI variation are high. For mothers and their offspring higher BMI correlations have been described than for fathers. Variation(s in the exclusively maternally inherited mitochondrial DNA (mtDNA might contribute to this parental effect. Thirty-two to 40 mtDNA single nucleotide polymorphisms (SNPs were available from genome-wide association study SNP arrays (Affymetrix 6.0. For discovery, we analyzed association in a case-control (CC sample of 1,158 extremely obese children and adolescents and 435 lean adult controls. For independent confirmation, 7,014 population-based adults were analyzed as CC sample of n = 1,697 obese cases (BMI ≥ 30 kg/m2 and n = 2,373 normal weight and lean controls (BMI<25 kg/m2. SNPs were analyzed as single SNPs and haplogroups determined by HaploGrep. Fisher's two-sided exact test was used for association testing. Moreover, the D-loop was re-sequenced (Sanger in 192 extremely obese children and adolescents and 192 lean adult controls. Association testing of detected variants was performed using Fisher's two-sided exact test. For discovery, nominal association with obesity was found for the frequent allele G of m.8994G/A (rs28358887, p = 0.002 located in ATP6. Haplogroup W was nominally overrepresented in the controls (p = 0.039. These findings could not be confirmed independently. For two of the 252 identified D-loop variants nominal association was detected (m.16292C/T, p = 0.007, m.16189T/C, p = 0.048. Only eight controls carried the m.16292T allele, five of whom belonged to haplogroup W that was initially enriched among these controls. m.16189T/C might create an uninterrupted poly-C tract located near a regulatory element involved in replication of mtDNA. Though follow-up of some D-loop variants still is conceivable, our hypothesis of a contribution of variation in the exclusively maternally inherited mtDNA to the observed larger correlations for BMI between mothers and

  18. Una metropolitana chiamata "tram"

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    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.

  19. Resistance of Abaca Somaclonal Variant Against Fusarium

    Directory of Open Access Journals (Sweden)

    RULLY DYAH PURWATI

    2007-12-01

    Full Text Available The objectives of this study were (i to evaluate responses against F. oxysporum f.sp. cubense (Foc infection of abaca variants regenerated using four different methods, (ii to determine initial root length and plant height effects on survival of inoculated abaca variants, and (iii to identify Foc resistance abaca variants. In the previous experiment, four abaca variant lines were regenerated from (i embryogenic calli (TC line, (ii ethyl methyl sulphonate (EMS treated embryogenic calli (EMS line, (iii EMS treated embryogenic calli, followed by in vitro selection on Foc culture filtrate (EMS+CF line, and (iv EMS treated embryogenic calli, followed by in vitro selection on fusaric acid (EMS+FA line. All abaca variants were grown in a glasshouse and inoculated with Banyuwangi isolate of Foc (Foc Bw. Initial root length (RL and plant height (PH of the abaca variants were recorded before inoculation, while scores of plant damage (SPD, and their survival were recorded at 60 days after inoculation (DAI. The results showed that the initial RL and PH did not affect survival of the tested abaca variants. Regardless of their initial RL and PH, susceptible abaca variants died before 60 DAI while resistance ones still survived. Abaca variants regenerated from single clump of embryogenic callus showed an array of responses against Foc Bw infection, indicating the existence of a mix cells population. The Foc Bw resistance abaca variants were successfully identified from four tested abaca variant lines, although with different frequencies. However, more Foc Bw resistance abaca plants were identified from EMS+CF line than the others. Using the developed procedures, 8 resistance abaca plants were identified from abaca cv. Tangongon and 12 from abaca cv. Sangihe-1.

  20. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

    NARCIS (Netherlands)

    Betsalel, Ofir T; Pop, Ana; Rosenberg, Efraim H; Fernandez-Ojeda, Matilde; Jakobs, Cornelis; Salomons, Gajja S; Koning, Klaziena

    Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 missense variants. To classify all known missense variants, we transfected creatine

  1. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

    NARCIS (Netherlands)

    Betsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; Jakobs, C.; Salomons, G.S.; Brouwer, A.P. de; Wevers, R.A.; Yntema, H.G.

    2012-01-01

    Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 missense variants. To classify all known missense variants, we transfected creatine

  2. Crioanalgesia: una técnica novedosa Cryoanalgesia: New anesthetic technique

    Directory of Open Access Journals (Sweden)

    Pamy Stolik Pérez

    2006-12-01

    Full Text Available Se describe una novedosa técnica anestésica denominada crioanalgesia, que constituye una alternativa para la cirugía de catarata con facoemulsificación. Esta variante anestésica es eficaz para lograr una analgesia adecuada para la cirugía de catarata. Permite que la cirugía sea en régimen ambulatorio, favorece la masividad e implica bajos costosAn assessment was made on a new anesthetic technique called cryoanalgesia, an alternative for cataract surgery with phacoemulsification. This anesthetic variant is effective to achieve adequate analgesia for cataract since it allows that surgery be performed in outpatient service, favours massive treatment and implies low costs

  3. 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.

  4. Cryptanalysis of SIMON Variants with Connections

    DEFF Research Database (Denmark)

    Alizadeh, Javad; Alkhzaimi, Hoda A.; Aref, Mohammad Reza

    2014-01-01

    attacks extend to all variants of SIMON covering more rounds compared to any known results using linear cryptanalysis. We present a key recovery attack against SIMON128/256 which covers 35 out of 72 rounds with data complexity 2123. We have implemented our attacks for small scale variants of SIMON and our...

  5. Beta-glucosidase I variants with improved properties

    Science.gov (United States)

    Bott, Richard R.; Kaper, Thijs; Kelemen, Bradley; Goedegebuur, Frits; Hommes, Ronaldus Wilhelmus; Kralj, Slavko; Kruithof, Paulien; Nikolaev, Igor; Van Der Kley, Wilhelmus Antonious Hendricus; Van Lieshout, Johannes Franciscus Thomas; Van Stigt Thans, Sander

    2016-09-20

    The present disclosure is generally directed to enzymes and in particular beta-glucosidase variants. Also described are nucleic acids encoding beta-glucosidase variants, compositions comprising beta-glucosidase variants, methods of using beta-glucosidase variants, and methods of identifying additional useful beta-glucosidase variants.

  6. La plástica del color en la obra de Luis Barragán: una aproximación experimental

    OpenAIRE

    ABELLANAS PANIAGUA, CRISTINA

    2015-01-01

    El conocimiento del manejo del color es actualmente una de las ramas más desconocidas en la arquitectura contemporánea. El color, con su enorme variante subjetiva, puede ofrecer innumerables beneficios a la arquitectura, así como ayudar a percibirla de una determinada manera. Además existe una variante más objetiva y funcional, que sirve como herramienta para el arquitecto. El presente estudio se centra en reflejar el comportamiento y la función del color en la Casa Gilardi del ar...

  7. 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.

  8. 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

  9. 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.

  10. Investigadores en una encrucijada

    Directory of Open Access Journals (Sweden)

    Lanata, José Luis

    2005-01-01

    Full Text Available Como investigadores nos vemos enfrentados a una serie de dilemas que, si bien se relacionan con nuestro tema de estudio, nos colocan frente a situaciones conflictivas. Por un lado, el rápido desarrollo tecnológico que nos permite obtener información cada vez más específica y novedosa, a la vez que la difusión de nuestros resultados es más fácilmente accesible por colegas en diferentes partes del mundo a través de la digitalización y la informática. Así toda investigación, propia o foránea, está al alcance de un "click de mouse". Por otro, la concientización de que la muestra que trabajamos hoy es pasible de transformarse mañana en una nueva fuente de datos, no sólo nos alerta para su adecuado manejo si no también para su correcta conservación a fin de preservarla convenientemente para que en el futuro se puedan obtener nuevos datos. Esto es también un reto para nosotros como investigadores, aún cuando puedan llegar a contradecir nuestros resultados. Además, el hecho de la existencia de derechos -que a primera instancia parecerían contrapuestos- entre las diferentes partes que intervienen directa o indirectamente en una investigación antropológica, nos enfrenta a desafíos que exceden la meta científica. A esto se le suma la-por el momento-casi ausencia de protocolos que establezcan las pertinentes relaciones y responsabilidades entre nosotros-con derechos como investigadores-y las instituciones a las que pertenecemos. Así no encontramos en una encrucijada en la que se hace imperioso compatibilizar y ecualizar los derechos de las diferentes partes, sin descontar nuestra responsabilidad académica y científica a futuro.

  11. 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

  12. Una Colombia imaginada

    Directory of Open Access Journals (Sweden)

    Miguel A. Ramiro Avilés

    2014-01-01

    Full Text Available José Antonio Osorio Lizarazo, José Félix Fuenmayor y Manuel Francisco Sliger Vergara escribieron, respectivamente, Barranquilla 2132, Una triste aventura de 14 sabios y Viajes interplanetarios en Zepelines que tendrán lugar el año 2009. Se trata de tres novelas de ciencia ficción que fueron publicadas en Colombia en la década de 1930. En estas obras se perfila una Colombia imaginada, muchas veces deseada y, por suerte o desgracia, nunca alcanzada. El objetivo de este texto es presentar las propuestas de reforma política anunciadas por estos tres autores en sus obras de ciencia ficción, centrando la atención en la obra de José Antonio Osorio Lizarazo por ser la más compleja y elaborada de las tres, así como por estar directamente ligada al pensamiento político de Jorge Eliécer Gaitán.

  13. Una Colombia imaginada

    Directory of Open Access Journals (Sweden)

    Miguel A. Ramiro Avilés

    2013-12-01

    Full Text Available José Antonio Osorio Lizarazo, José Félix Fuenmayor y Manuel Francisco Sliger Vergara escribieron, respectivamente, Barranquilla 2132, Una triste aventura de 14 sabios y Viajes interplanetarios en Zepelines que tendrán lugar el año 2009. Se trata de tres novelas de ciencia ficción que fueron publicadas en Colombia en la década de 1930. En estas obras se perfila una Colombia imaginada, muchas veces deseada y, por suerte o desgracia, nunca alcanzada. El objetivo de este texto es presentar las propuestas de reforma política anunciadas por estos tres autores en sus obras de ciencia ficción, centrando la atención en la obra de José Antonio Osorio Lizarazo por ser la más compleja y elaborada de las tres, así como por estar directamente ligada al pensamiento político de Jorge Eliécer Gaitán.

  14. Variability extraction and modeling for product variants.

    Science.gov (United States)

    Linsbauer, Lukas; Lopez-Herrejon, Roberto Erick; Egyed, Alexander

    2017-01-01

    Fast-changing hardware and software technologies in addition to larger and more specialized customer bases demand software tailored to meet very diverse requirements. Software development approaches that aim at capturing this diversity on a single consolidated platform often require large upfront investments, e.g., time or budget. Alternatively, companies resort to developing one variant of a software product at a time by reusing as much as possible from already-existing product variants. However, identifying and extracting the parts to reuse is an error-prone and inefficient task compounded by the typically large number of product variants. Hence, more disciplined and systematic approaches are needed to cope with the complexity of developing and maintaining sets of product variants. Such approaches require detailed information about the product variants, the features they provide and their relations. In this paper, we present an approach to extract such variability information from product variants. It identifies traces from features and feature interactions to their implementation artifacts, and computes their dependencies. This work can be useful in many scenarios ranging from ad hoc development approaches such as clone-and-own to systematic reuse approaches such as software product lines. We applied our variability extraction approach to six case studies and provide a detailed evaluation. The results show that the extracted variability information is consistent with the variability in our six case study systems given by their variability models and available product variants.

  15. Una investigacion accion participativa en una comunidad rural de Mexico

    National Research Council Canada - National Science Library

    Arellano, Rubi; Suarez, Sergio; Balcazar, Fabricio E; Alvarado, Francisco

    2015-01-01

    .... Aunque las intervenciones comunitarias tienen la intencion de mejorar las desigualdades sociales y economicas, todavia hay una necesidad de evaluar los resultados de la Investigacion Accion Participativa (IAP...

  16. 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%.

  17. 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.

  18. Solo una experiencia

    OpenAIRE

    Chasy Molik, Nataly; Pontificia Universidad Javeriana, Cali

    2013-01-01

    Fue duro para ella conocer el sentimiento del antes y el después de aquella experiencia. Un cuarto oscurecido por la noche en el que a través de una cortina clara se cruzaban pequeños rayos de luz, se exhalaba un olor intenso a húmedo, a tierra, a lluvia. La televisión encendida en frente a sus ojos y ninguno de los concentrados en mirarla. Se escuchaban sus respiraciones intensas y se podía observar el sonido a pleno pulmón de su interior gritando en rebeldía por un beso. Sabían que algo ocu...

  19. Una agenda para educadores

    Directory of Open Access Journals (Sweden)

    Robert O. McClintock

    2007-01-01

    Full Text Available Las instituciones educativas constituyen los principales factores en la construcción social de un nuevo sistema educativo. Las escuelas y los educadores controlan y producen propiedad intelectual de una extraordinaria profundidad y amplitud. Los cambios producidos por las tecnologías digitales están consiguiendo que el acceso y la producción de conocimiento sea más accesible y universal. Lo que es, a la vez, un gran logro de apertura curricular, pero también un grave peligro de perder la perspectiva eminentemente “educativa” de la transmisión del conocimiento en la escuela. Los nuevos recursos permiten a los educadores romper el ciclo de reproducción en los logros educativos, acercarse al medio y a la familia y transformar la escuela. Los educadores y las escuelas deben asumir el reto de constituir comunidades de aprendizaje. Así como de atreverse a producir y difundir ese conocimiento con soporte digital. Lo contrario sería una terrible abdicación. El artículo traza un recorrido histórico sobre esta función de la escuela y su adaptación a los medios y recursos de cada época. Tras lo cual, aboga por asumir el desafío actual de las TICs, para renovar el vínculo progresista con la posteridad y construir un mejor futuro. Los nuevos recursos permiten a los educadores romper el ciclo de reproducción en los logros educativos, acercarse al medio y a la familia y transformar la escuela.

  20. Una crisis financiera estructural

    Directory of Open Access Journals (Sweden)

    Pierre Salama

    2010-01-01

    Full Text Available El autor sostiene que la crisis económica que estalló a mediados del 2008 en los países industrializa-dos y que rápidamente contagió a todas las economías del mundo, no tiene un origen exclusivo en las desregulaciones del mercado financiero. Aunque estas sin duda han precipitado y amplificado la crisis, es fundamental considerar la globalización financiera y comercial que ha marcado los regíme-nes de crecimiento económico. Es esta globalización la que ha provocada la deslocalización de la producción –a favor de China– y una consecuente pérdida de empleos y atonía de los salarios. Des-de esta perspectiva terminar la crisis requerirá más que una restructuración de la arquitectura financiera, será necesario modificar la desregularización financiera y comercial.The author maintains that the economic crisis that broke out in mid-2008 in industrialized countries and quickly spread to economies throughout the world does not have its origins solely in deregula-tion of the financial market. Though this clearly precipitated and has broadened the crisis, it is essential to consider the financial and commercial globalization that has marked regimes of economic growth. This is the globalization that has provoked the dislocation of production – in favor of China – and the consequent loss of jobs and stagnation of salaries. From this perspective, an end to the crisis will require more than a restructuring of financial architecture; what will be needed is change in financial and commercial deregulation.

  1. Hemilaryngeal Microsomia: An Anatomic Variant.

    Science.gov (United States)

    Urban, Matthew J; Mattioni, Jillian; Jaworek, Aaron; Potigailo, Valeria; Sataloff, Robert T

    2017-09-01

    This study aims to describe a congenital laryngeal structural variant, hemilaryngeal microsomia (HLM), and to correlate identification on physical examination with computerized tomography scan (CT) and laryngoscopy findings. The study was conducted at a tertiary care center. Six patients presenting with hoarseness were admitted to a tertiary care otolaryngology office. These patients had asymmetrical thyroid cartilage prominence on palpation during physical examination. A diagnosis of HLM was made. All patients underwent laryngostroboscopy and CT scan. Four control patients with normal thyroid cartilage anatomy on physical examination, CT, and stroboscopy results were included for comparison. Disparities in thyroid cartilage angles correlated with documented physical examination findings for six out of six HLM patients. On CT scan, the average difference in left and right thyroid laminar angles was 30.2° ± 18.3° in HLM patients vs 4.00° ± 1.63° in control patients (P = 0.023). Strobosocopic findings also correlated with HLM. The arytenoid cartilage was anteriorly or medially displaced on the microsomic side in all six HLM patients. Three patients had anterior placement of the vocal process resulting in shortening of the vocal fold on the microsomic side of the larynx. HLM is a congenital structural anomaly of the larynx that may be palpated on physical examination. HLM found on physical examination can be correlated with asymmetries found on CT scan and endoscopy. There is no evidence that the structural features of HLM were causally related to voice symptoms, but the findings on HLM may lead to misdiagnosis. A larger study is indicated to confirm laryngeal structural differences between patients with HLM on physical examination and the general population. Whether or not HLM affects clinical or surgical outcomes remains to be studied. Copyright © 2017. Published by Elsevier Inc.

  2. Histone variants in plant transcriptional regulation.

    Science.gov (United States)

    Jiang, Danhua; Berger, Frédéric

    2017-01-01

    Chromatin based organization of eukaryotic genome plays a profound role in regulating gene transcription. Nucleosomes form the basic subunits of chromatin by packaging DNA with histone proteins, impeding the access of DNA to transcription factors and RNA polymerases. Exchange of histone variants in nucleosomes alters the properties of nucleosomes and thus modulates DNA exposure during transcriptional regulation. Growing evidence indicates the important function of histone variants in programming transcription during developmental transitions and stress response. Here we review how histone variants and their deposition machineries regulate the nucleosome stability and dynamics, and discuss the link between histone variants and transcriptional regulation in plants. This article is part of a Special Issue entitled: Plant Gene Regulatory Mechanisms and Networks, edited by Dr. Erich Grotewold and Dr. Nathan Springer. Copyright © 2016 Elsevier B.V. All rights reserved.

  3. Variant (Swine Origin) Influenza Viruses in Humans

    Science.gov (United States)

    ... at Commercial Swine Farms Fair Organizers & Exhibitors In Humans Key Facts about Human Infections with Variant Viruses Interim Guidance for Clinicians on Human Infections Background, Risk Assessment & Reporting Reported Infections with ...

  4. Splicing variants of porcine synphilin-1

    DEFF Research Database (Denmark)

    Larsen, Knud Erik; Madsen, Lone Bruhn; Farajzadeh, Leila

    2015-01-01

    %) and to mouse (84%) synphilin-1. Three shorter transcript variants of the synphilin-1 gene were identified, all lacking one or more exons. SNCAIP transcripts were detected in most examined organs and tissues and the highest expression was found in brain tissues and lung. Conserved splicing variants and a novel......RNA was investigated by RNAseq. The presented work reports the molecular cloning and characterization of the porcine (Sus scrofa) synphilin-1 cDNA (SNCAIP) and three splice variants hereof. The porcine SNCAIP cDNA codes for a protein (synphilin-1) of 919 amino acids which shows a high similarity to human (90...... splice form of synhilin-1 were found in this study. All synphilin-1 isoforms encoded by the identified transcript variants lack functional domains important for protein degradation....

  5. Improving bioinformatic pipelines for exome variant calling

    OpenAIRE

    Ji, Hanlee P.

    2012-01-01

    Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bioinformatic analysis pipelines necessary for clinical application. The Atlas2 suite, recently released by Baylor Genome Center, is designed to be widely accessible, runs on desktop computers but is ...

  6. Rare hemoglobin variants in Tunisian population.

    Science.gov (United States)

    Zorai, A; Moumni, I; Mosbahi, I; Douzi, K; Chaouachi, D; Guemira, F; Abbes, S

    2015-04-01

    During the last 30 years, many studies concerning hemoglobinopathies were realized among Tunisians. More than twenty different thalassemic alleles were detected on the β-globin gene, and less are affecting the α-globin genes. Unusual hemoglobin (Hb) variants other than Hb S, Hb C, and Hb O-arab, which are the most frequent variants in Tunisia, were also detected. Eight Tunisian subjects were studied at phenotypic and molecular levels. Hematological indices and hemoglobin (Hb) pattern were performed by alkaline electrophoresis and isoelectric focusing (IEF),and the Hb fractions were quantitated by cation exchange HPLC. On genomic level, coding regions were amplified by polymerase chain reaction (PCR) followed by a sequencing of the purified PCR products using the dye terminator method. Seven uncommon Hb variants were detected and described for the first time among Tunisians. HbA2-Tunis [δ46(CD5), Gly → Glu, GGG → GAG] is the newly described δ-chain variant in our laboratory, and some other variants (Hb Constant Spring, G San Jose, and Hb J-Bangkok) are very uncommon in the Mediterranean region. We present here an updated review of the Hb variants detected among Tunisians. Twenty-one rare Hb variants were detected affecting the α1-, α2-, δ-, γ-, and β-globin genes, leading in some cases to a severe phenotype especially when the stability is completely altered. The ethnical history of Tunisia could explain this important variability of the observed rare Hb variants. © 2014 John Wiley & Sons Ltd.

  7. Nuove osservazioni su una glossa botanica mediolatina : citamus 'colchico'

    Directory of Open Access Journals (Sweden)

    Alberto Zamboni

    2009-12-01

    Full Text Available Il  grigion.  schiombla,  tschiombla  ‘colchico’,  lombardo  alpino  or.  ciĝám(bula,  si-,  trent.occ. (Giudicarie čiĝámbọla, segámbola ecc., insieme forse con lo sporadico friul. subalpino siàngala, ven- gono attribuiti nel noto ribelle di V. Bertoldi (1923: §§ 71–3 ad una glossa mediolatina citamus, cito- mus, riportata nel Diefenbach ma piuttosto isolata e possibile cattiva lettura di cart(hamus (1288, 1304. L’ipotesi passa attraverso un suffissato (e non documentato *citamŭla, che renderebbe le numerose varianti dialettali attraverso una normale lenizione di -t- > -d- > -ø- (con eventuale refezio- ne tramite -g- – tratto fonetico estraneo tuttavia al friulano – e si oppone a quella sostenuta in prima istanza  da  Michael  (1905,  che  pensava  ad  un  *cicamŭla  dissimilato  da  *ciclamŭla,  derivato  da cyclāmen ‘ciclamino’, i cui fiori hanno somiglianza con quelli del colchico e del croco. Va tuttavia riconosciuta ad Alessio la valorizzazione del meridionale šamo ‘giusquiamo’, solanacea velenosa di lontana tradizione per le sue proprietà farmacologiche (così come per il colchico, una liliacea: una forma, almeno semipopolare, che a mio avviso può esser stata diffusa anche in aree settentrionali, sempre in una variante suffissata *šámula, *siá- che rende facile conto del patrimonio grigionese schiombla (/š/!, lombardo segám(bola, meno invece del friulano siángala. Una nuova soluzione che offre il vantaggio di recuperare un filone autonomo ed elaborato di hyoscyamus in un areale alpino sostanzialmente omogeneo.

  8. Demography and the age of rare variants.

    Science.gov (United States)

    Mathieson, Iain; McVean, Gil

    2014-08-01

    Large whole-genome sequencing projects have provided access to much rare variation in human populations, which is highly informative about population structure and recent demography. Here, we show how the age of rare variants can be estimated from patterns of haplotype sharing and how these ages can be related to historical relationships between populations. We investigate the distribution of the age of variants occurring exactly twice (ƒ(2) variants) in a worldwide sample sequenced by the 1000 Genomes Project, revealing enormous variation across populations. The median age of haplotypes carrying ƒ(2) variants is 50 to 160 generations across populations within Europe or Asia, and 170 to 320 generations within Africa. Haplotypes shared between continents are much older with median ages for haplotypes shared between Europe and Asia ranging from 320 to 670 generations. The distribution of the ages of ƒ(2) haplotypes is informative about their demography, revealing recent bottlenecks, ancient splits, and more modern connections between populations. We see the effect of selection in the observation that functional variants are significantly younger than nonfunctional variants of the same frequency. This approach is relatively insensitive to mutation rate and complements other nonparametric methods for demographic inference.

  9. Hemoglobin Variant Profiles among Brazilian Quilombola Communities.

    Science.gov (United States)

    Santiago, Rayra P; Oliveira, Rodrigo M; Soares, Leonardo F; Figueiredo, Camylla V B; Silva, Denise Oliveira; Hurtado-Guerrero, Ana F; Fiuza, Luciana M; Guarda, Caroline C; Adorno, Elisângela V; Barbosa, Cynara G; Gonçalves, Marilda S

    2017-03-01

    Brazilian Quilombolas are communities composed of African-derived populations that have their territories guaranteed by the Brazilian Constitution. The present study investigated the hemoglobin (Hb) variants among these population groups. This study was conducted in a total of 2843 individuals of Brazilian Quilombola communities of the Bahia, Pará, and Piauí states. All the participants had their Hb profiles evaluated. The Hb S (HBB: c.20A>T) variant was described in all the studied localities. However, the individuals in Bahia State had the highest frequency of the Hb C (HBB: c.19G>A) variant; individuals from Piauí State had a higher frequency of the Hb D-Punjab (HBB: c.364G>C) variant compared to the other states, and individuals from Pará State only carried the Hb S variant. The present study revealed a specific distribution of Hb variants that could represent different waves of African influence in these Brazilian populations.

  10. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

    Science.gov (United States)

    Betsalel, Ofir T; Pop, Ana; Rosenberg, Efraim H; Fernandez-Ojeda, Matilde; Jakobs, Cornelis; Salomons, Gajja S

    2012-04-01

    Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 missense variants. To classify all known missense variants, we transfected creatine deficient fibroblasts with the SLC6A8 ORF containing one of the unique variants and tested their ability to restore creatine uptake. This resulted in the definitive classification of 2 non-disease associated and 19 pathogenic variants of which 3 have residual activity. Furthermore, we report the development and validation of a novel DHPLC method for the detection of heterozygous SLC6A8 variants. The method was validated by analysis of DNAs that in total contained 67 unique variants of which 66 could be detected. Therefore, this rapid screening method may prove valuable for the analysis of large cohorts of females with mild intellectual disability of unknown etiology, since in this group heterozygous SLC6A8 mutations may be detected. DHPLC proved also to be important for the detection of somatic mosaicism in mothers of patients who have a pathogenic mutation in SLC6A8. All variants reported in the present and previous studies are included in the Leiden Open Source Variant Database (LOVD) of SLC6A8 (www.LOVD.nl/SLC6A8). Copyright © 2011 Elsevier Inc. All rights reserved.

  11. 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.

  12. Una historia muy simple

    Directory of Open Access Journals (Sweden)

    Miha Mazzini

    2009-12-01

    Full Text Available Voy a contarles una historia muy simple. Probablemente no les parecerá nada espe- cial y no quiero robarles tiempo, así que voy a tratar de hacerlo lo más rápido posible. Me inscribí en psicología porque eso hizo mi mejor amiga. Éramos compañeras desde jardín de infantes y siempre la seguí en todo. En tercer año de facultad conoció a su novio y continuó sus estudios en otro país; por primera vez no podía seguirla. Cuando rendí todos los exámenes, el profesor me preguntó si estaba interesada en hacer mi tesis sobre el perfil psicológico de los participantes de reality shows. Accedí para no tener que pensar en otro tema, aunque no veía mucho la televisión porque me pasaba las noches entre los libros de estudio. Enseguida me di cuenta de que, evidentemente, el profesor había firmado un contrato con la emisora: a él lo empleaban y y yo era la que iba a tener que trabajar, pero no me importaba. La tesis de licenciatura no es más que eso y hay que hacerla. Yo evaluaba los candidatos y elegía a los participantes que vivirían juntos duran- te algunos meses. Como hacían el programa con una licencia extranjera y ya sabían qué le interesaba a la audiencia, yo tenía preparados los rasgos de los perfiles psicológicos que en ese aislamiento colectivo no resultan bien. Tuve que elegir gente variada, pero dentro de la media; nunca nada verdaderamente especial. Cuando me gradué, tuve las noches libres: de pronto tenía mucho más tiempo y podía haber visto el programa, pero ya había terminado. Pero oí que había sido todo un éxito y que sobre todo a los chicos les había encantado el reality y los participantes elegidos.

  13. En el silencio: una meditacion

    National Research Council Canada - National Science Library

    Mudimbe, Valentin Y

    2010-01-01

    ..., por accidente, una meditacion hablada aun podria reclamar una variedad de formas para meditar; y, siendo el silencio el tema, podria con mas facilidad aun confesarse sobre lo no-dicho de la propia reciente obsesion por Haiti, mas desde dentro de las propias divagaciones silenciosas, que desde dentro de un marco ruidoso. Aun si el silencio no borra, y n...

  14. 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.

  15. 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.

  16. [Frequency of chromosome variants in human populations].

    Science.gov (United States)

    Kuleshov, N P; Kulieva, L M

    1979-01-01

    Chromosome variants were analyzed in the course of the population chromosome investigation of 6000 newborns and clinical cytogenetic studies of 403 married couples with recurrent spontaneous abortions, stillbirths or offsprings having congenital malformations or Down's syndrome. The following variants were determined: 1) Igh+, 9gh+, 16gh+ - the enlargement of the secondary constrictions of the size, more than 1/4 of the long arm of the chromosome; 2) Dp+ or Gp+ - the enlargement of the short arms of acrocentrics, their size being more than the short arm of the chromosome 18; 3) Ds+ or Gs - large satellites of the acrocentrics which are equal or more than the thickness of the chromatids of the long arms; 4) Es+ - satellites on the short arms of the chromosomes 17 or 18; 5) Dss of Gss - double satellites; 6) Yq+ - the enlargement of the long arm of Y chromosome, the size of which being more than G chromosome; 7) Yq- - deletion of the long arm of Y chromosome, the size of the long arm being less than chromosomes 21--22. The total frequency of variants in newborns was 12.8/1000 births. The incidence of different types of variants per 1000 births was as follows: Igh+ - 0.33; 9gh+ - 0.17; 16gh+ - 0.50; Ds+ - 2.33; Dp+ - 1.50; Dp- - 0.17; Gs+ - 0.83; Gp+ - 2.17; Yq+ - 6.91/1000 males; Yg- - 0.99/1000 males; double variants - 0.33; other variants - 0.33. 4.0% of married couples with recurrent spontaneous abortions had major chromosome aberrations, 14.6% - extreme variants of chromosomes. Among 113 couples with the history of congenital malformations in their offsprings major chromosome abnormalities were found in 4.4%, chromosome variants - 13.3%. The frequency of chromosome variants among 139 patients with Down's syndrome was 7.2%. In one case Robertsonian translocation t(DqGa) was determined. The most frequent types of variant chromosomes were Ds+, Dp+, Es+, Yq+.

  17. de una lengua extranjera

    Directory of Open Access Journals (Sweden)

    Félix Mendoza Martínez

    2006-01-01

    Full Text Available La enseñanza de las lenguas extranjeras atraviesa hoy por lo que consideramos una “nueva crisis del desarrollo”. Nos referimos al hecho de que, no obstante los avances experimentados en el campo de la psicopedagogía, los resultados del proceso de enseñanza-aprendizaje de dichas lenguas, en términos tanto de eficiencia terminal como de calidad del dominio de habilidades comunicativas, distan mucho de ser satisfactorios. La utilización del enfoque comunicativo y la adopción de un abordaje constructivista de este proceso parecen no estar aún en condiciones de resolver esta “crisis”. En este trabajo se trata de analizar esta situación a la luz de la concepción vygotskiana, y más concretamente, de la teoría de la dirección de la asimilación de P. Y. Galperin (1959, 1966, y se propone un modelo de intervención pedagógica que podría coadyuvar a resolver esta problemática.

  18. Beta-glucosidase variants and polynucleotides encoding same

    Energy Technology Data Exchange (ETDEWEB)

    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.

  19. Frequency of thermostability variants: estimation of total rare variant frequency in human populations

    Energy Technology Data Exchange (ETDEWEB)

    Mohrenweiser, H.W.; Neel, J.V.

    1981-09-01

    Eight erythrocyte enzymes were examine for thermostability in an unselected sample of 100 newborn infants. Three thermolabile variants, one each of lactate dehydrogenase, glucosephosphate isomerase, and glucose-6-phosphate dehydrogenase, were identified, none of which was detectable as a variant by standard electrophoretic techniques. All were inherited. This frequency of 3.8 heritable thermostability variants per 1000 determinations is to be compared with a frequency of electrophoretically detectable variants of 1.1 per 1000 determinations, a frequency of 2.4 enzyme-deficiency variants per 1000 determinations, and a frequency of individuals with rare enzyme deficiency or electrophoretic or thermostability (or both) variants at these loci is 8.4 per 1000 determinations. A similar distribution and frequency is seen when the comparison is limited to the seven loci studied by all techniques. it is clear that not all of the electrophoretic and thermostability variants present in the population are detected by the techniques used in this study. Accordingly, it is estimated that the true frequency of carriers of a rare variant for each of these enzyme-coding loci averages greater than 10/1000. Some implications of these frequencies for human disease are discussed.

  20. 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.

  1. 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!

  2. 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.  

  3. 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

  4. 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.

  5. Warty Carcinoma Penis: An Uncommon Variant.

    Science.gov (United States)

    Thapa, Sushma; Ghosh, Arnab; Shrestha, Santosh; Ghartimagar, Dilasma; Narasimhan, Raghavan; Talwar, O P

    2017-01-01

    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.

  6. Variants of Monteggia Type Injury: Case Reports

    Directory of Open Access Journals (Sweden)

    Kamudin NAF

    2015-03-01

    Full Text Available Background: Monteggia fracture-dislocation is rare in children. Various reports attest to its rarity, while recording the many variant of this injury. It is, therefore, easy to miss the diagnosis in the absence of proper clinical examination and radiographs. Case Report : This report highlights two rare variants of Monteggia fracture-dislocation seen in children. The first case was a 12-year old girl alleged to have fallen from a 15-feet tall tree and sustaining a combined type III Monteggia injury with ipsilateral Type II Salter-Harris injury of distal end radius with a metaphyseal fracture of the distal third of the ulna. The second case was a 13-year old who had sustained a closed fracture of atypical Type I Monteggia hybrid lesion, in a road traffic accident. Conclusion: This report highlights the rare variants of Monteggia fracture dislocation which could have been missed without proper clinical examinations and radiographs.

  7. Development of industrial variant specification systems

    DEFF Research Database (Denmark)

    Hansen, Benjamin Loer

    With globalisation and increased competition industrial companies must be prepared to satisfy individual customer needs and still stay competitive with regards to lead times, quality, and prices. These factors require companies to be better prepared to handle specification activities during order...... and the challenge of understanding the variant specification tasks and the connections between variant specification, product development, sales, manufacturing, and information technology. The present thesis seeks to meet this challenge with a procedure, concepts and tools. This is done through an extensive answer...... acquisition and order fulfilment, i.e. the creation of drawings, bill-of-materials, routings, product descriptions, quote letters etc. The present thesis is rooted in the assumption that variant specification systems supporting the cross-functional processes of order acquisition and order fulfilment must...

  8. A case of reninoma with variant angina

    Directory of Open Access Journals (Sweden)

    Hyung Ah Jo

    2014-06-01

    Full Text Available Reninoma is a tumor of the renal juxtaglomerular cell apparatus that causes hypertension and hypokalemia because of hypersecretion of renin. We present a case of a 29-year-old female patient with reninoma and concomitant variant angina. The patient had uncontrolled hypertension and elevated plasma renin activity and aldosterone levels. Imaging studies revealed a mass in the left kidney, which was further confirmed as a renin-producing lesion via selective venous catheterization. During the evaluation, the patient had acute-onset chest pain that was diagnosed as variant angina after a provocation test. After partial nephrectomy, the plasma renin activity and plasma aldosterone levels decreased and blood pressure normalized. We report a case of reninoma with variant angina.

  9. Drogas emergentes: una perspectiva medicolegal

    National Research Council Canada - National Science Library

    García-Repetto, Rosario; Soria, M. Luisa

    2011-01-01

    ... de alegaciones de maltratos y tortura REVISIÓN Drogas emergentes: una perspectiva medicolegal CARTAS AL EDITOR Muerte súbita inexplicada en la epilepsia: implicaciones en patología foren...

  10. Variant profiling of evolving prokaryotic populations

    Directory of Open Access Journals (Sweden)

    Markus Zojer

    2017-02-01

    Full Text Available Genomic heterogeneity of bacterial species is observed and studied in experimental evolution experiments and clinical diagnostics, and occurs as micro-diversity of natural habitats. The challenge for genome research is to accurately capture this heterogeneity with the currently used short sequencing reads. Recent advances in NGS technologies improved the speed and coverage and thus allowed for deep sequencing of bacterial populations. This facilitates the quantitative assessment of genomic heterogeneity, including low frequency alleles or haplotypes. However, false positive variant predictions due to sequencing errors and mapping artifacts of short reads need to be prevented. We therefore created VarCap, a workflow for the reliable prediction of different types of variants even at low frequencies. In order to predict SNPs, InDels and structural variations, we evaluated the sensitivity and accuracy of different software tools using synthetic read data. The results suggested that the best sensitivity could be reached by a union of different tools, however at the price of increased false positives. We identified possible reasons for false predictions and used this knowledge to improve the accuracy by post-filtering the predicted variants according to properties such as frequency, coverage, genomic environment/localization and co-localization with other variants. We observed that best precision was achieved by using an intersection of at least two tools per variant. This resulted in the reliable prediction of variants above a minimum relative abundance of 2%. VarCap is designed for being routinely used within experimental evolution experiments or for clinical diagnostics. The detected variants are reported as frequencies within a VCF file and as a graphical overview of the distribution of the different variant/allele/haplotype frequencies. The source code of VarCap is available at https://github.com/ma2o/VarCap. In order to provide this workflow to

  11. Variantes estruturalistas no ensino de Lacan

    OpenAIRE

    Riaviz, Eduardo

    2005-01-01

    Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Comunicação e Expressão. Programa de Pós-Graduação em Literatura A presente tese estuda as variantes estruturalistas no ensino de Lacan. Para introduzir estas variantes, parte dos antecedentes desse ensino, i.e., dos textos de Lacan que ainda não são lacanianos. Mostra, nestes antecedentes, uma intuição estruturalista em Lacan, um estruturalismo em estado prático. Será justamente este proto-estruturalismo a permitir que L...

  12. Mining business process variants: Challenges, scenarios, algorithms

    NARCIS (Netherlands)

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

    During the last years a new generation of process-aware information systems has emerged, which enables process model configurations at buildtime as well as process instance changes during runtime. Respective model adaptations result in a large number of model variants that are derived from the same

  13. Probabilistic Transcriptome Assembly and Variant Graph Genotyping

    DEFF Research Database (Denmark)

    Sibbesen, Jonas Andreas

    that this approach outperforms existing state-of-the-art methods measured using sensitivity and precision on both simulated and real data. The second is a novel probabilistic method that uses exact alignment of k-mers to a set of variants graphs to provide unbiased estimates of genotypes in a population...

  14. HLogo: a parallel Haskell variant of Netlogo

    NARCIS (Netherlands)

    N. Bezirgiannis (Nikolaos); Prasetya, I.S.W.B.; Sakellariou, I.

    2016-01-01

    textabstractAgent-based Modeling (ABM) has become quite popular to the simulation community for its usability and wide area of applicability. However, speed is not usually a trait that ABM tools are characterized of attaining. This paper presents HLogo, a parallel variant of the NetLogo ABM

  15. 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...

  16. Variants of the left aortic arch branches

    African Journals Online (AJOL)

    ORIGINAL ARTICLE. Variants of the left aortic arch branches. N Z Makhanya. MB ChB. R T Mamogale. MB 0113. N Khan. FCRaD (0). Department of Diagnostic Radiology. Medical University of Southern Africa. Abstract. The normal aorta has three branches from its arch, but variations in this pattern are not uncommon. Our.

  17. New genetic variants associated with prostate cancer

    Science.gov (United States)

    Researchers have newly identified 23 common genetic variants -- one-letter changes in DNA known as single-nucleotide polymorphisms or SNPs -- that are associated with risk of prostate cancer. These results come from an analysis of more than 10 million SNP

  18. Psychiatric misdiagnoses in Dandy-Walker variant.

    Science.gov (United States)

    Blaettner, C; Pfaffenberger, N M; Cartes-Zumelzu, F; Hofer, A

    2015-01-01

    Cases of intellectual impairment and aberrant behavior in patients with cerebellar diseases have been described since the early nineteenth century. Here, we report on a patient suffering from Dandy-Walker variant who presented with symptoms of obsessive compulsive disorder and delusional disorder. The current findings emphasize the potential relevance of focal cerebellar lesions as organic correlates of these disorders.

  19. Developing consistent pronunciation models for phonemic variants

    CSIR Research Space (South Africa)

    Davel, M

    2006-09-01

    Full Text Available from a lexicon containing variants. In this paper we (the authors) address both these issues by creating ‘pseudo-phonemes’ associated with sets of ‘generation restriction rules’ to model those pronunciations that are consistently realised as two or more...

  20. Mining Process Model Variants: Challenges, Techniques, Examples

    NARCIS (Netherlands)

    Li, C.

    2010-01-01

    During the last years a new generation of process-aware information systems has emerged, which enables process model configurations at buildtime as well as process instance changes during runtime. Respective model adaptations result in large collections of process model variants that are derived

  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. 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 lef...

  3. PIN1 gene variants in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Siedlecki Janusz

    2009-11-01

    Full Text Available Abstract Background Peptidyl-prolyl isomerase, NIMA-interacting 1 (PIN1 plays a significant role in the brain and is implicated in numerous cellular processes related to Alzheimer's disease (AD and other neurodegenerative conditions. There are confounding results concerning PIN1 activity in AD brains. Also PIN1 genetic variation was inconsistently associated with AD risk. Methods We performed analysis of coding and promoter regions of PIN1 in early- and late-onset AD and frontotemporal dementia (FTD patients in comparison with healthy controls. Results Analysis of eighteen PIN1 common polymorphisms and their haplotypes in EOAD, LOAD and FTD individuals in comparison with the control group did not reveal their contribution to disease risk. In six unrelated familial AD patients four novel PIN1 sequence variants were detected. c.58+64C>T substitution that was identified in three patients, was located in an alternative exon. In silico analysis suggested that this variant highly increases a potential affinity for a splicing factor and introduces two intronic splicing enhancers. In the peripheral leukocytes of one living patient carrying the variant, a 2.82 fold decrease in PIN1 expression was observed. Conclusion Our data does not support the role of PIN1 common polymorphisms as AD risk factor. However, we suggest that the identified rare sequence variants could be directly connected with AD pathology, influencing PIN1 splicing and/or expression.

  4. Disseny d'una sala polivalent per una societat musical

    OpenAIRE

    TORRES SALORT, JOSEP

    2015-01-01

    Disseny d’una sala polivalent per una societat musical atenent als parà- metres acústics que defineixen la qualitat acústica d’una sala d’aquestes característiques i a la màxima polivalència en el seu ús. Extracció d’uns pautes de disseny a partir de l’anàlisi de diferents sales de reduïdes dimensions i posterior creació d’un model de sala ideal. Simulació acústica i valoració de la sala inicial. Finalment, aplicació del prototip i les millores pertinents a la sala objecte d...

  5. Una Nueva Etapa

    Directory of Open Access Journals (Sweden)

    Gilberto Rueda Pérez

    1996-08-01

    Full Text Available

    Palabras pronunciadas por el Presidente de la Academia Nacional de Medicina, doctor Gilberto Rueda Pérez, en la Asamblea General Ordinaria del 21 de marzo de 1996 con motivo del cierre de labores de la vigencia 1994-1996

    Señores Académicos:

    Durante el período que hoy termina y que se inició en mayo de 1994, muchas y muy diversas son las actividades de importancia desarrolladas por la Academia; quiero simplemente enumerar algunas de ellas, las más destacadas, para no repetir la larga lista ya enunciada para ustedes por nuestro insuperable Secretario General, doctor Zoilo Cuéllar-Montoya, a quien más que a ninguna otra persona agradezco expresamente su incansable y apta gestión. Su informe se reproduce más adelante, en este mismo número de la Revista.

    Inauguración de Capítulos: durante esta gestión hemos inaugurado los Capítulos de Norte de Santander, Risaralda y Nariño; cuán orgullosos nos sentimos de ello puesto que consideramos estar cumpliendo con el objetivo básico de la Academia que, como su nombre lo indica, debe ser del ámbito nacional.

    A este respecto cabe anotar la reciente realización del Primer Encuentro Nacional de Academias de Medicina reunido a instancias nuestras en la sede central, con asistencia de 33 delegados de las Academias independientes, Medellín, Cartagena, Caldas y Valle del Cauca y de los siete Capítulos de la Academia Nacional, a saber: Atlántico, Huila, Nariño, Norte de Santander, Risaralda, Santander y Tolima, de donde surgió no solamente una importante declaración conjunta sino el deseo expresado por todos de unir esfuerzos y criterios para el manejo futuro de lo concerniente a la salud y a la educación en salud del pueblo colombiano, lo mismo que el de realizar futuros, periódicos y nuevos encuentros del mismo estilo en las diferentes sedes, debiendo culminar con un gran Congreso Académico Nacional, de ocurrencia bianual, para tratar

  6. 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 ...

  7. Rare variant density across the genome and across populations

    OpenAIRE

    Raska Paola; Zhu Xiaofeng

    2011-01-01

    Abstract Next-generation sequencing allows for a new focus on rare variant density for conducting analyses of association to disease and for narrowing down the genomic regions that show evidence of functionality. In this study we use the 1000 Genomes Project pilot data as distributed by Genetic Analysis Workshop 17 to compare rare variant densities across seven populations. We made the comparisons using regressions of rare variants on total variant counts per gene for each population and Taji...

  8. Una paradoja freudiana del amor

    OpenAIRE

    David Andrés Vargas Castro

    2012-01-01

    Una paradoja freudiana del amor Tomando como eje principal el texto freudiano “El malestar en la cultura”, el artículo ubica una paradoja con respecto al amor, al denotar que si bien es cierto que el amor hace posible el lazo social, a su vez atenta contra él. Se abordan diversos textos de Freud que permiten dilucidar dicha paradoja, y que nos remiten a la tensión entre sexualidad y cultura, a los afectos que acompañan al amor, como los celos, la env...

  9. Flipped classroom: una experiencia real

    OpenAIRE

    Yactayo López, Jefferson

    2016-01-01

    RESUMEN El aula invertida es una metodología innovadora que proporciona al alumno diversidad de materiales que son revisados fuera de clase mientras que el discente dedica el tiempo del aula para realizar tareas que no solo cimentaran las bases de su conocimiento, sino que tenderán a ampliar el rango de adquisición de información gracias al uso de las TIC. Este trabajo documenta una experiencia de innovación educativa con esta metodología que ha sido llevada a cabo en las aulas de Segundo de ...

  10. Dietary intake, FTO genetic variants and adiposity

    DEFF Research Database (Denmark)

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

    2015-01-01

    between the FTO rs9939609 variant (or a proxy) and total energy and macronutrient intake; and 2) the interaction between the FTO variant and dietary intake, and the effect on BMI. We found that the BMI-increasing allele (minor allele) of the FTO variant was associated with increased total energy intake...

  11. Processing of No-Release Variants in Connected Speech

    Science.gov (United States)

    LoCasto, Paul C.; Connine, Cynthia M.

    2011-01-01

    The cross modal repetition priming paradigm was used to investigate how potential lexically ambiguous no-release variants are processed. In particular we focus on segmental regularities that affect the variant's frequency of occurrence (voicing of the critical segment) and phonological context in which the variant occurs (status of the following…

  12. The power of multiplexed functional analysis of genetic variants.

    Science.gov (United States)

    Gasperini, Molly; Starita, Lea; Shendure, Jay

    2016-10-01

    New technologies have recently enabled saturation mutagenesis and functional analysis of nearly all possible variants of regulatory elements or proteins of interest in single experiments. Here we discuss the past, present, and future of such multiplexed (functional) assays for variant effects (MAVEs). MAVEs provide detailed insight into sequence-function relationships, and they may prove critical for the prospective clinical interpretation of genetic variants.

  13. GAVIN : Gene-Aware Variant INterpretation for medical sequencing

    NARCIS (Netherlands)

    van der Velde, K Joeri; de Boer, Eddy N; van Diemen, Cleo C; Sikkema-Raddatz, Birgit; Abbott, Kristin M; Knopperts, Alain; Franke, Lude; Sijmons, Rolf H; de Koning, Tom J; Wijmenga, Cisca; Sinke, Richard J; Swertz, Morris A

    2017-01-01

    We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific calibrations of allele frequencies from the ExAC database, likely variant impact using SnpEff, and estimated

  14. 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...... the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant....

  15. Antibióticos y daño en el DNA: una combinación peligrosa

    OpenAIRE

    Blázquez, Jesús

    2017-01-01

    El uso generalizado de antibióticos como agentes terapéuticos en humanos y animales y como promotores del crecimiento ha supuesto un gran desafío para las bacterias, lo que ha conducido a la selección y diseminación de variantes resistentes a los antibióticos. Sin embargo, los antibióticos parecen ser más que meros selectores de estas variantes. En los últimos años, se ha acumulado evidencia de que los antibióticos, además de su acción antimicrobiana, plantean potencialmente una serie de efec...

  16. 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.

  17. 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?

  18. Colombia es una cosa penetrable

    Directory of Open Access Journals (Sweden)

    Gilberto Loaiza Cano

    2007-10-01

    Full Text Available Colombia es una cosa impenetrable. Raíces de la intolerancia y otros ensayos sobre historia política y vida intelectual. Juan Guillermo Gómez García. Bogotá, Diente de León, 2006, 454 pág.

  19. Novel RNA variants in colorectal cancers.

    Science.gov (United States)

    Hoff, Andreas M; Johannessen, Bjarne; Alagaratnam, Sharmini; Zhao, Sen; Nome, Torfinn; Løvf, Marthe; Bakken, Anne C; Hektoen, Merete; Sveen, Anita; Lothe, Ragnhild A; Skotheim, Rolf I

    2015-11-03

    With an annual estimated incidence of 1.4 million, and a five-year survival rate of 60%, colorectal cancer (CRC) is a major clinical burden. To identify novel RNA variants in CRC, we analyzed exon-level microarray expression data from a cohort of 202 CRCs. We nominated 25 genes with increased expression of their 3' parts in at least one cancer sample each. To efficiently investigate underlying transcript structures, we developed an approach using rapid amplification of cDNA ends followed by high throughput sequencing (RACE-seq). RACE products from the targeted genes in 23 CRC samples were pooled together and sequenced. We identified VWA2-TCF7L2, DHX35-BPIFA2 and CASZ1-MASP2 as private fusion events, and novel transcript structures for 17 of the 23 other candidate genes. The high-throughput approach facilitated identification of CRC specific RNA variants. These include a recurrent read-through fusion transcript between KLK8 and KLK7, and a splice variant of S100A2. Both of these were overrepresented in CRC tissue and cell lines from external RNA-seq datasets.

  20. [Dandy-Walker variant: Case report].

    Science.gov (United States)

    Cueva-Núñez, José E; Lozano-Bustillo, Alejandra; Irias-Álvarez, Merlyn S; Vásquez-Montes, Raúl F; Varela-González, Douglas M

    Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation. describe the case of a rare disease and emphasise the need to clarify the aetiology of prenatal malformations, as well as its multidisciplinary management. A male patient, 8 years of age, with a history of Infantile Cerebral Palsy and epilepsy, who was admitted with a history of tonic-clonic seizures. He was admitted due to psycho-motor developmental delay. During his hospitalisation, he had multiple seizure episodes, controlled with anticonvulsants. A computerized tomography was performed, in which communication was observed between the cisterna magna and fourth ventricle (the latter increased in size). In addition, the cerebellar vermix showed a partial hypoplasia. All these findings were compatible with a variant of the Dandy Walker syndrome. Dandy Walker variant may be asymptomatic and the images found may not indicate them as the cause of developmental disorders, due to its association with multiple syndromes and chromosomal abnormalities. Clinical presentation and prognosis depends on the related disorders, and a multidisciplinary approach is important, because the treatment depends on the symptoms presented. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  1. 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

    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...... 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...... to have no or an uncertain effect on the protein level, whereas one variant (c.5072C>T/p.Thr1691Ile) were shown to have a strong effect on the protein level as well. In conclusion, our study emphasizes that in silico splicing prediction and mini-gene splicing analysis are important for the classification...

  2. 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.

  3. Una Curruca capirotada (Sylvia atricapilla) con una secundaria suplementaria

    OpenAIRE

    Fernández, Antonio

    1993-01-01

    El 31.07.93 es va capturar un adult mascle a Riópar (Albacete) amb una secundària adicional a l'ala esquerra. Aquesta ala tenia totes les secundàries amb la seva forma i estructura normal. Per això no va ser possible determinar on s'havia inserit aquesta secundària adicional. L'ala dreta tenia el nombre normal de plomes.

  4. Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

    Science.gov (United States)

    Ozola, Aija; Azarjana, Kristīne; Doniņa, Simona; Proboka, Guna; Mandrika, Ilona; Petrovska, Ramona; Cēma, Ingrīda; Heisele, Olita; Eņģele, Ludmila; Streinerte, Baiba; Pjanova, Dace

    2013-03-01

    To evaluate the association of melanocortin 1 receptor gene (MC1R) variants with melanoma risk in a Latvian population, the MC1R gene was sequenced in 200 melanoma patients and 200 control persons. A functional study of previously uncharacterized, rare MC1R variants was also performed. In total, 26 different MC1R variants, including two novel variants Val165Ile and Val188Ile, were detected. The highest risk of melanoma was associated with the Arg151Cys variant (odds ratio (OR) 4.47, 95% confidence interval (CI) 2.19-9.14, PMC1R variants revealed that a subset of them is functionally relevant. Our results support the contribution of MC1R variants to a genetic predisposition to melanoma in Latvia. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. Mesotelioma a una edad inesperada

    OpenAIRE

    Judith Álvarez Otero; Ana Cobas Paz

    2014-01-01

    Presentamos el caso de un varón de 38 años, deportista, sin hábitos tóxicos ni antecedentes médicos de interés, soldador de profesión con el antecedente en el año previo de una inhalación accidental de galvanizado de zinc. Acude al servicio de urgencias por cuadro de 1 mes de evolución de dolor torácico localizado en hemitórax derecho. Se realiza una radiografía de tórax en la que se observa un pinzamiento del seno costofrénico derecho y engrosamiento de la cisura menor en relación con derram...

  6. 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.

  7. 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.

  8. 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.

  9. Eco-eficiencia una gestion empresarial ambiental

    National Research Council Canada - National Science Library

    Rocio, Hartley B

    2009-01-01

    .... Examina una eficiencia en el uso de los recursos naturales, al "producir mas con menos". Esta eficiencia debe ser medida y evaluada, con el objetivo de dar seguimiento al desempeno productivo de una actividad economica...

  10. 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.

  11. 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

  12. Space-variant polarized Airy beam

    CERN Document Server

    Chen, Hao

    2015-01-01

    We experimentally generate an Airy beam with polarization structure while keeping its original amplitude and phase profile intact. This class of Airy beam preserves the acceleration properties. By monitoring their initial polarization structure we have provided insight concerning the self-healing mechanism of Airy beams. We investigate both theoretically and experimentally the self-healing polarization properties of the space-variant polarized Airy beams. Amplitude as well as the polarization structure tends to reform during propagation in spite of the severe truncation of the beam by finite apertures.

  13. Sex steroids and variants of gender identity.

    Science.gov (United States)

    Meyer-Bahlburg, Heino F L

    2013-09-01

    This article summarizes for the practicing endocrinologist the current literature on the psychobiology of the development of gender identity and its variants in individuals with disorders of sex development (DSD) or with non-DSD transgenderism. Gender reassignment remains the treatment of choice for strong and persistent gender dysphoria in both categories, but more research is needed on the short-term and long-term effects of puberty-suppressing medications and cross-sex hormones on brain and behavior. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Multisystem altruistic metadynamics—Well-tempered variant

    Science.gov (United States)

    Hošek, Petr; Kříž, Pavel; Toulcová, Daniela; Spiwok, Vojtěch

    2017-03-01

    Metadynamics method has been widely used to enhance sampling in molecular simulations. Its original form suffers two major drawbacks, poor convergence in complex (especially biomolecular) systems and its serial nature. The first drawback has been addressed by introduction of a convergent variant known as well-tempered metadynamics. The second was addressed by introduction of a parallel multisystem metadynamics referred to as altruistic metadynamics. Here, we combine both approaches into well-tempered altruistic metadynamics. We provide mathematical arguments and trial simulations to show that it accurately predicts free energy surfaces.

  15. Multisystem altruistic metadynamics-Well-tempered variant.

    Science.gov (United States)

    Hošek, Petr; Kříž, Pavel; Toulcová, Daniela; Spiwok, Vojtěch

    2017-03-28

    Metadynamics method has been widely used to enhance sampling in molecular simulations. Its original form suffers two major drawbacks, poor convergence in complex (especially biomolecular) systems and its serial nature. The first drawback has been addressed by introduction of a convergent variant known as well-tempered metadynamics. The second was addressed by introduction of a parallel multisystem metadynamics referred to as altruistic metadynamics. Here, we combine both approaches into well-tempered altruistic metadynamics. We provide mathematical arguments and trial simulations to show that it accurately predicts free energy surfaces.

  16. Genetic variants associated with lung function

    DEFF Research Database (Denmark)

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

    2014-01-01

    BACKGROUND: Reduced forced expiratory volume in 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) are strong predictors of mortality and lung function is higher among individuals with exceptional longevity. However, genetic factors associated with lung function in individuals...... 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...

  17. 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)

  18. 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.

  19. 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.

  20. Varianti d’autore: Invenzioni su una voce di Bruno Maderna

    Directory of Open Access Journals (Sweden)

    Antonio Rodà

    2009-11-01

    Full Text Available Author’s variants: Invenzioni su una voce by Bruno MadernaThe analogue audio documents, containing the Electronic works of the second half of the XX Century, are often the result of a transmission process whose phe-nomenology, although it presents some peculiarities, shows analogies with the tex-tual tradition. In this context, Dimensioni II. Invenzione su una voce by Bruno Mad-erna is an interesting case study: the more than twenty reviewed sources, which are different for duration, content, and recording format; the existence of at least five author’s variants; the many relations among the Helm’s text, the Berberian’s per-formance, the electronic elaborations, and the tape editing process require edition criteria able to render the tradition of the work in its complex articulation. This paper gives a detailed analysis of the audio sources of Invenzione su una voce, based on a deep knowledge of the electronic “writing system”, by mean of which the work has been generated.

  1. Association between MTHFR variant and diabetic neuropathy.

    Science.gov (United States)

    Kakavand Hamidi, Armita; Radfar, Mania; Amoli, Mahsa M

    2017-04-26

    Methylene-tetrahydrofolate reductase (MTHFR) gene variant may play an important role in the pathophysiology of diabetes and its complications due to its influence on plasma homocysteine levels and also its effect on scavenging peroxynitrite radicals. Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. The aim of this study was to investigate the relationship between diabetic neuropathy and MTHFR gene C677T and 1298A ⁄C polymorphisms. Patients with type 2 diabetes N=248 were enrolled in the study, consisting of patients with neuropathy (N=141) and patients without neuropathy (N=107). MTHFR C677T polymorphism was analyzed using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) of genomic DNA for genotyping of samples. 1298A/C polymorphism was evaluated using ARMS-PCR. There was a significant difference in MTHFR polymorphism between the groups with and without neuropathy. Our results suggest that MTHFR 677 variant confer risk for diabetic neuropathy among Iranian patients with type 2 diabetes. Copyright © 2017 Institute of Pharmacology, Polish Academy of Sciences. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  2. A TIMP-1 splice variant transcript

    DEFF Research Database (Denmark)

    Øbro, Nina Friesgård; Lademann, Ulrik Axel; Birkenkamp-Demtroder, Karin

    2008-01-01

    A splice variant of tissue inhibitor of metalloproteinases-1 (TIMP-1) mRNA lacking exon 2 (TIMP-1-v2) has been identified in human cancer cells and in colorectal and breast cancer tumors. The purpose of this study was (1) to study the level of full length TIMP-1 and TIMP-1-v2 transcripts in color...... of TIMP-1 pre-mRNA to TIMP-1-v2 mRNA might be involved in regulating TIMP-1 expression.......A splice variant of tissue inhibitor of metalloproteinases-1 (TIMP-1) mRNA lacking exon 2 (TIMP-1-v2) has been identified in human cancer cells and in colorectal and breast cancer tumors. The purpose of this study was (1) to study the level of full length TIMP-1 and TIMP-1-v2 transcripts...... in colorectal tumors; (2) to investigate if TIMP-1-v2 is translated to protein. Full length TIMP-1 and TIMP-1-v2 mRNA levels were compared between colorectal tumors and normal mucosa by Q-PCR. Both full length TIMP-1 and TIMP-1-v2 transcripts were upregulated in tumor tissue. However, the level of TIMP-1-v2...

  3. COMT gene locus: new functional variants

    Science.gov (United States)

    Meloto, Carolina B.; Segall, Samantha K.; Smith, Shad; Parisien, Marc; Shabalina, Svetlana A.; Rizzatti-Barbosa, Célia M.; Gauthier, Josée; Tsao, Douglas; Convertino, Marino; Piltonen, Marjo H.; Slade, Gary Dmitri; Fillingim, Roger B.; Greenspan, Joel D.; Ohrbach, Richard; Knott, Charles; Maixner, William; Zaykin, Dmitri; Dokholyan, Nikolay V.; Reenilä, Ilkka; Männistö, Pekka T.; Diatchenko, Luda

    2015-01-01

    Abstract Catechol-O-methyltransferase (COMT) metabolizes catecholaminergic neurotransmitters. Numerous studies have linked COMT to pivotal brain functions such as mood, cognition, response to stress, and pain. Both nociception and risk of clinical pain have been associated with COMT genetic variants, and this association was shown to be mediated through adrenergic pathways. Here, we show that association studies between COMT polymorphic markers and pain phenotypes in 2 independent cohorts identified a functional marker, rs165774, situated in the 3′ untranslated region of a newfound splice variant, (a)-COMT. Sequence comparisons showed that the (a)-COMT transcript is highly conserved in primates, and deep sequencing data demonstrated that (a)-COMT is expressed across several human tissues, including the brain. In silico analyses showed that the (a)-COMT enzyme features a distinct C-terminus structure, capable of stabilizing substrates in its active site. In vitro experiments demonstrated not only that (a)-COMT is catalytically active but also that it displays unique substrate specificity, exhibiting enzymatic activity with dopamine but not epinephrine. They also established that the pain-protective A allele of rs165774 coincides with lower COMT activity, suggesting contribution to decreased pain sensitivity through increased dopaminergic rather than decreased adrenergic tone, characteristic of reference isoforms. Our results provide evidence for an essential role of the (a)-COMT isoform in nociceptive signaling and suggest that genetic variations in (a)-COMT isoforms may contribute to individual variability in pain phenotypes. PMID:26207649

  4. Anatomic variants in Dandy-Walker complex.

    Science.gov (United States)

    Jurcă, Maria Claudia; Kozma, Kinga; Petcheşi, CodruŢa Diana; Bembea, Marius; Pop, Ovidiu Laurean; MuŢiu, Gabriela; Coroi, Mihaela Cristiana; Jurcă, Alexandru Daniel; Dobjanschi, Luciana

    2017-01-01

    Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex. In all four cases, diagnosis was reached by incorporation of clinical (macrocephaly, seizures) and imaging [X-ray, computed tomography (CT), magnetic resonance imaging (MRI)] data. Two patients were diagnosed with Dandy-Walker complex, one patient was diagnosed with Dandy-Walker variant in a rare association with neurofibromatosis and one patient was diagnosed with a posterior fossa arachnoid cyst associated with left-sided Claude Bernard-Horner syndrome, congenital heart disease (coarctation of the aorta, mitral stenosis) and gastroesophageal reflux. In all forms of DWC, the clinical, radiological and functional manifestations are variable and require adequate diagnostic and therapeutic measures.

  5. 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

  6. BBCAnalyzer: a visual approach to facilitate variant calling

    OpenAIRE

    Sandmann, S.; Graaf, A.O. de; Dugas, M.

    2017-01-01

    Background Deriving valid variant calling results from raw next-generation sequencing data is a particularly challenging task, especially with respect to clinical diagnostics and personalized medicine. However, when using classic variant calling software, the user usually obtains nothing more than a list of variants that pass the corresponding caller?s internal filters. Any expected mutations (e.g. hotspot mutations), that have not been called by the software, need to be investigated manually...

  7. Copy number variants in patients with short stature

    OpenAIRE

    van Duyvenvoorde, Hermine A.; Lui, Julian C.; Kant, Sarina G; Oostdijk, Wilma; Gijsbers, Antoinet CJ; Hoffer, Mariëtte JV; Karperien, Marcel; Walenkamp, Marie JE; Noordam, Cees; Voorhoeve, Paul G; Mericq, Verónica; Alberto M. Pereira; Claahsen-van der Grinten, Hedi L.; van Gool, Sandy A; Breuning, Martijn H

    2013-01-01

    Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variant...

  8. A unified phylogeny-based nomenclature for histone variants.

    Science.gov (United States)

    Talbert, Paul B; Ahmad, Kami; Almouzni, Geneviève; Ausió, Juan; Berger, Frederic; Bhalla, Prem L; Bonner, William M; Cande, W Zacheus; Chadwick, Brian P; Chan, Simon W L; Cross, George A M; Cui, Liwang; Dimitrov, Stefan I; Doenecke, Detlef; Eirin-López, José M; Gorovsky, Martin A; Hake, Sandra B; Hamkalo, Barbara A; Holec, Sarah; Jacobsen, Steven E; Kamieniarz, Kinga; Khochbin, Saadi; Ladurner, Andreas G; Landsman, David; Latham, John A; Loppin, Benjamin; Malik, Harmit S; Marzluff, William F; Pehrson, John R; Postberg, Jan; Schneider, Robert; Singh, Mohan B; Smith, M Mitchell; Thompson, Eric; Torres-Padilla, Maria-Elena; Tremethick, David John; Turner, Bryan M; Waterborg, Jakob Harm; Wollmann, Heike; Yelagandula, Ramesh; Zhu, Bing; Henikoff, Steven

    2012-06-21

    Histone variants are non-allelic protein isoforms that play key roles in diversifying chromatin structure. The known number of such variants has greatly increased in recent years, but the lack of naming conventions for them has led to a variety of naming styles, multiple synonyms and misleading homographs that obscure variant relationships and complicate database searches. We propose here a unified nomenclature for variants of all five classes of histones that uses consistent but flexible naming conventions to produce names that are informative and readily searchable. The nomenclature builds on historical usage and incorporates phylogenetic relationships, which are strong predictors of structure and function. A key feature is the consistent use of punctuation to represent phylogenetic divergence, making explicit the relationships among variant subtypes that have previously been implicit or unclear. We recommend that by default new histone variants be named with organism-specific paralog-number suffixes that lack phylogenetic implication, while letter suffixes be reserved for structurally distinct clades of variants. For clarity and searchability, we encourage the use of descriptors that are separate from the phylogeny-based variant name to indicate developmental and other properties of variants that may be independent of structure.

  9. A unified phylogeny-based nomenclature for histone variants

    Directory of Open Access Journals (Sweden)

    Talbert Paul B

    2012-06-01

    Full Text Available Abstract Histone variants are non-allelic protein isoforms that play key roles in diversifying chromatin structure. The known number of such variants has greatly increased in recent years, but the lack of naming conventions for them has led to a variety of naming styles, multiple synonyms and misleading homographs that obscure variant relationships and complicate database searches. We propose here a unified nomenclature for variants of all five classes of histones that uses consistent but flexible naming conventions to produce names that are informative and readily searchable. The nomenclature builds on historical usage and incorporates phylogenetic relationships, which are strong predictors of structure and function. A key feature is the consistent use of punctuation to represent phylogenetic divergence, making explicit the relationships among variant subtypes that have previously been implicit or unclear. We recommend that by default new histone variants be named with organism-specific paralog-number suffixes that lack phylogenetic implication, while letter suffixes be reserved for structurally distinct clades of variants. For clarity and searchability, we encourage the use of descriptors that are separate from the phylogeny-based variant name to indicate developmental and other properties of variants that may be independent of structure.

  10. 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.

  11. 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. 

  12. Una radio dentro del Colegio

    Directory of Open Access Journals (Sweden)

    Jorge González

    2015-01-01

    Full Text Available Ser simplemente receptores críticos de los medios de comunicación social no alcanza, es un objetivo importante pero modesto, constituye apenas la mitad del camino. La otra mitad es comenzar a producir mensajes nosotros mismos, de una manera alternativa, tratando aquella problemática que normalmente no aparece en los medios de comunicación social. Esta es la base de la propuesta que se lleva adelante en la Escuela Media N°3 de Quilmes y consiste en un taller de comunicación donde los alumnos elaboran mensajes para transmitirlos masivamente.

  13. Trabajo infantil: una realidad avasallante

    OpenAIRE

    Abud Rodríguez, Silvina Vanesa

    2015-01-01

    p. 87-89 El trabajo infantil es una realidad que se ha venido gestando a lo largo de la historia, en especial desde la revolución industrial. Existe en todos los países del mundo, sin importar sus niveles de desarrollo, sus modelos económicos o las ideologías de sus gobernantes. Es de vital importancia conocer cuáles son los desafíos que asume el Estado como principal proveedor de respuestas a las necesidades de los niños y niñas que se encuentran en situación de vulnerabilidad. La present...

  14. Una nueva estrategia para competir

    OpenAIRE

    Cremer, Rodolfo

    2014-01-01

    A la luz de los cambios que están ocurriendo, vemos como las estrategias básicas para competir (1) diferenciación, (2) liderazgo en precios, y (3) alta segmentación, empiezan a quedarse cortas si pretendemos aplicarlas en un horizonte de largo plazo, en donde el corto plazo presenta una alta e impredecible turbulencia en un ambiente hipercompetitivo, y las ventajas competitivas antes “sostenibles en el tiempo” son destruidas en el fiero mundo de la competencia. Las maravillas tecnológicas ...

  15. NUEVAS ILUSIONES PARA UNA ESCUELA

    Directory of Open Access Journals (Sweden)

    Juan Domingo Santos

    2010-05-01

    Full Text Available RESUMEN La propuesta docente surge de la necesidad de integrar las materias que intervienen en el proyecto de arquitectura y de la consideración de que un proyecto no es la suma de conocimientos desconectados e independientes. La Arquitectura es una actividad múltiple y compleja al tiempo que única y personal. Frente a la recepción pasiva de informaciones, la actividad arquitectónica como cualquier otra actividad creativa nos obliga a una verificación crítica de nuestro entorno y a la reivindicación de un conocimiento global síntesis de una identidad. El conocimiento, clasificado por tipos y materias, no puede nunca responder con éxito a la problemática amplia y diversa de una actividad que debe dar soluciones a un entorno complejo. La mejor docencia debería parecerse lo más posible a un estudio profesional de arquitectura en cuanto a la capacidad de integración de materias distintas. De aquí la condición global de la enseñanza que afecta a todo cuanto rodea al hombre, desde la tecnología hasta el clima y la cultura, los comportamientos sociales, la memoria o los sentidosSUMMARY The course structure arises from the need to integrate the subjects involved in an architectural project and from the recognition that a project is not the sum of disconnected and independent knowledge. Architecture is a multiple and complex activity, whilst being unique and personal. As opposed to the passive reception of information, architectural activity, like any other creative activity, forces a critical verification of our surroundings and the recognition of a global knowledge synthesis of an identity. Knowledge alone, classified by types and subjects, can never successfully respond to the wide and diverse problems of an activity that must provide solutions to a complex environment. The best teaching should closely simulate a professional architectural studio regarding the capacity to integrate different subjects. This is the global condition of

  16. 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...

  17. Una experiencia de flipped classroom

    OpenAIRE

    Sáez Pizarro, Beatriz; Ros Viñegla, María Piedad

    2014-01-01

    El proceso de convergencia europea ha supuesto un cambio radical en el paradigma del proceso enseñanza-aprendizaje universitario. En este contexto, que supone trasladar el centro de atención de la enseñanza al aprendizaje, la metodología de “Flipped Classroom” o clase invertida, puede constituir una oportunidad para profundizar en los principios metodológicos del EESS, liberando tiempo del aula para que el estudiante pueda destinarlo a un auténtico entrenamiento en competencias...

  18. Una lunga strada di parole

    Directory of Open Access Journals (Sweden)

    Rita Belenghi

    2015-05-01

    Full Text Available Una memoria fortunosamente ritrovata è il cuore della narrazione. Attraverso le lettere dal fronte di Severino Belenghi, un giovane soldato dichiarato disperso in Russia nel dicembre 1942, è stata ricostruita e raccontata la sua storia, lunga sedici mesi, nel contesto tragico della campagna di Russia e in quello personale e privatissimo di un dialogo ininterrotto con i familiari. L’autrice, nipote di Severino Belenghi, ha tradotto in performance teatrale questa narrazione e l’ha presentata come prova conclusiva della terza edizione del Master di Comunicazione storica dell’Università di Bologna.

  19. 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...

  20. 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 (LD50) 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.

  1. Estudio psicológico de niños con talla baja variante de la normalidad

    OpenAIRE

    Fernández García, María Estrella

    2011-01-01

    La Tesis “Estudio psicológico de niños con talla variante de la normalidad”, tiene como objetivo los aspectos psicológicos (inteligencia, características de personalidad, rendimiento académico) y las consecuencias sociales de la talla baja. Se estudia a 40 niños mediante una encuesta y test de inteligencia, personalidad y depresión siguiendo unos criterios de inclusión y exclusión. Como resultado no se observan diferencias psicológicas con la población general relacionadas con la talla baja ...

  2. 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.

  3. 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.

  4. Importancia de Proteger una Marca.

    Directory of Open Access Journals (Sweden)

    Nerbys Hernández Dorta

    2008-07-01

    Full Text Available Las marcas están incluidas dentro de la rama de la Propiedad Industrial y no son más que palabras, símbolos, formas tridimensionales distintivas o figuras que se asocian a un producto o servicio para diferenciarlo y distinguirlo de los iguales o similares que se ofertan en el mercado. También reflejan una calidad constante que el consumidor espera del producto o servicio y constituyen un medio publicitario. El registro de la marca en Cuba se realiza ante la Oficina Cubana de la Propiedad Industrial radicada en la Ciudad de la Habana o ante los Puestos de Trabajo establecidos en cada provincia del país. El mismo le otorga al titular el derecho exclusivo a su uso de modo que nadie más puede usarla en el comercio sin su autorización en territorio cubano, y además protege a la empresa y le permite consolidar su actividad empresarial e imagen ante la clientela y el mercado. En este trabajo se expone una breve reseña de lo que son las marcas, se dan algunos consejos útiles para su confección, su modo de protección en Cuba, la legislación que la protege en el país y la importancia que tiene para las empresas cubanas inscribir sus marcas.

  5. Aequorin variants with improved bioluminescence properties.

    Science.gov (United States)

    Dikici, E; Qu, X; Rowe, L; Millner, L; Logue, C; Deo, S K; Ensor, M; Daunert, S

    2009-04-01

    The photoprotein aequorin has been widely used as a bioluminescent label in immunoassays, for the determination of calcium concentrations in vivo, and as a reporter in cellular imaging. It is composed of apoaequorin (189 amino acid residues), the imidazopyrazine chromophore coelenterazine and molecular oxygen. The emission characteristics of aequorin can be changed by rational design of the protein to introduce mutations in its structure, as well as by substituting different coelenterazine analogues to yield semi-synthetic aequorins. Variants of aequorin were created by mutating residues His16, Met19, Tyr82, Trp86, Trp108, Phe113 and Tyr132. Forty-two aequorin mutants were prepared and combined with 10 different coelenterazine analogues in a search for proteins with different emission wavelengths, altered decay kinetics and improved stability. This spectral tuning strategy resulted in semi-synthetic photoprotein mutants with significantly altered bioluminescent properties.

  6. A compendium of genetic variant data

    DEFF Research Database (Denmark)

    Cardoso, Joao; Schöning, Lars Yannik; Herrgard, Markus

    2014-01-01

    Laboratory strains are genetically unstable if exposed to selective pressure as encountered, for example, during molecular cloning, fermentation, or adaptive laboratory evolution experiments. This genetic variation is the consequence of an adaptation process of the microorganism to stress conditi...... obtained from distinct experiments. This compendium of genetic variant is a critical step to develop approaches to automatically and systematically characterize mutated strains in the future.......Laboratory strains are genetically unstable if exposed to selective pressure as encountered, for example, during molecular cloning, fermentation, or adaptive laboratory evolution experiments. This genetic variation is the consequence of an adaptation process of the microorganism to stress...... conditions, e.g., high pressure or temperature, nutrient limitation, or toxic byproduct concentrations. The evolved strains display then new phenotypes: tolerance to a toxic byproduct or higher temperature, improved production rate of a byproduct, or higher uptake rates of nutrients. To understand...

  7. A look-ahead variant of TFQMR

    Energy Technology Data Exchange (ETDEWEB)

    Freund, R.W. [AT& T Bell Labs., Murray Hill, NJ (United States); Nachtigal, N.M. [Oak Ridge National Lab., TN (United States)

    1994-12-31

    Recently, Freund proposed a Krylov subspace iteration, the transpose-free quasi-minimal residual method (TFQMR), for solving general nonsingular non-Hermitian linear systems. The algorithm relies on a version of the squared Lanczos process to generate the basis vectors for the underlying Krylov subspace. It then constructs iterates defined by a quasi-minimization property, which leads to a smooth and nearly monotone convergence behavior. The authors investigate a variant of TFQMR that uses look-ahead to avoid some of the problems associated with breakdowns in the underlying squared Lanczos procedure. They also present some numerical examples that illustrate the properties of the new method, as compared to the original TFQMR algorithm.

  8. Sturge -Weber Syndrome - Three Classic variants

    Directory of Open Access Journals (Sweden)

    R S Sathawane

    2006-01-01

    Full Text Available Sturge-Weber syndrome (SWS, also known as encephalotrigeminal angiomatosis, a sporadic, non-familial, congenital disorder consists of congenital hamartomatous malformations that may affect the eye, skin and central nervous system at different times. Sturge-Weber syndrome is classified as 1 Complete trisymptomatic: - when all three organ systems i.e. eye, skin and CNS are involved 2 Incomplete bisymptomatic:- when the involvement is either oculocutaneous or neurocutaneous, and 3 Incomplete monosymptomatic: when there is only neural or cutaneous involvement. Failure of proper vascular development is believed to be the most likely cause of this condition. The malformed blood vessels or hemangiomas may lead to port-wine stain, epilepsy and glaucoma depending on its location. Three classic variants with typical findings are discussed.

  9. LEWY BODY VARIANT OF ALZHEIMER DISEASE

    Directory of Open Access Journals (Sweden)

    Jera Jeruc

    2003-10-01

    Full Text Available Background. Clinicopathological studies indicate that Alzheimer’s disease (AD is the most common neurodegenerative cause of dementia, the other frequent causes are AD combined with diffuse Lewy bodies and dementia with Lewy bodies (DLB by itself. When histological features of AD and DLB are found together in one brain we speak about Lewy body variant of AD (LBVAD. Beside global cognitive impairment LBVAD patients show signs of subcortical dementia and mild extrapiramidal signs.Methods and results. We present two patients with post-mortem diagnosis of LBVAD. Clinical and pathomorphological characteristics of the disease are discussed.Conclusions. Post-mortem studies show that LBVAD is the second most common cause of dementia, following AB.

  10. Current conveyors variants, applications and hardware implementations

    CERN Document Server

    Senani, Raj; Singh, A K

    2015-01-01

    This book serves as a single-source reference to Current Conveyors and their use in modern Analog Circuit Design. The authors describe the various types of current conveyors discovered over the past 45 years, details of all currently available, off-the-shelf integrated circuit current conveyors, and implementations of current conveyors using other, off-the-shelf IC building blocks. Coverage includes prominent bipolar/CMOS/Bi-CMOS architectures of current conveyors, as well as all varieties of starting from third generation current conveyors to universal current conveyors, their implementations and applications. •Describes all commercially available off-the-shelf IC current conveyors, as well as hardware implementations of current conveyors using other off-the-shelf ICs; • Describes numerous variants of current conveyors evolved over the past forty five years; • Describes a number of Bipolar/CMOS/Bi-CMOS architectures of current conveyors, along with their characteristic features; • Includes a comprehe...

  11. 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.)

  12. Multicentric variant of peripheral ossifying fibroma

    Directory of Open Access Journals (Sweden)

    Srikanth A Choudary

    2014-01-01

    Full Text Available Peripheral ossifying fibroma (POF is a solitary over growth of the gingiva known to arise from the cells of the periodontal ligament. The lesions usually start as a painless overgrowth of the interdental papilla unless associated with trauma and gradually involve the other counter parts of the gingiva. The lesion is more considered to be an inflammatory or reactive process rather than to be neoplastic. Here, the authors present a unique case of multiple POF in a young male adult aged 24 years where surgical excision was carried out quadrant wise. The biopsy specimen from multiple sites revealed similar histopathologic features consistent with POF, but also with the multicentric presentation of POF, which is a unique phenomenon. Multicentric variant of POF is indeed a rare case being only the second case so far which has been documented. Management of such case needs a multidisciplinary approach to prevent the recurrence along with regular long time follow-up.

  13. Pubertad normal y variantes de la normalidad

    OpenAIRE

    Soriano Guillén, L.

    2015-01-01

    La pubertad es un periodo de transición entre la infancia y la vida adulta, regulada por complejos mecanismos biológicos que, a su vez, están controlados por la interacción entre redes nodales de genes y el ambiente. Aunque ha existido una notable tendencia secular en el inicio de la pubertad, desde el siglo XIX hasta mediados del siglo XX, esta se ha estabilizado en las últimas décadas. De esta forma, se define como pubertad normal aquella que acontece entre los ocho y los trece años en l...

  14. Treatment of spelling variants in Setswana monolingual dictionaries

    African Journals Online (AJOL)

    user

    Abstract: This paper argues that the Setswana language is characterised by spelling variants which are a consequence of ... be pronunciation variants, as those found, for instance, in words such as data. (deɪtə or dɑ:tə), ...... idiom is "an independent lexical item having an opaque meaning" (Svensén. 2009: 194). Treatment ...

  15. Growth differentiation factor 9 gene variants in Sudanese desert ...

    African Journals Online (AJOL)

    Certain variants in the growth differentiation factor 9 (GDF9) gene have major effects on the ovulation rate in sheep. The aim of this study was to analyse GDF9 variability in the Sudanese desert sheep ecotypes Ashgar, Dubasi and Watish, and to test identified variants for association with litter size. For this purpose, ewes of ...

  16. 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.

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

    Indian Academy of Sciences (India)

    Exact solutions for nonlinear variants of Kadomtsev–Petviashvili (, ) equation using functional variable method. M Mirzazadeh M Eslami. Volume 81 Issue ... The functional variable method is used to establish compactons, solitons, solitary patterns and periodic solutions for these variants. This method is a powerful tool for ...

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

    African Journals Online (AJOL)

    Background: Haemoglobin genotype is an important blood component that determines haemoglobinopathies. Distribution of haemoglobin variants was investigated among the Ika ethnic nationality of Delta State, Nigeria. Aim: The resent study was conducted to determine the prevalence of haemoglobin variants and also to ...

  19. Genetic polymorphism of milk protein variants and their association ...

    African Journals Online (AJOL)

    To the best of our knowledge, this is the first detailed study involving frequency distribution of genetic variants and their effects on milk yield in Bos indicus Sahiwal cattle of Pakistan. Keywords: Genetic variant, milk protein genes, Sahiwal cattle. African Journal of Biotechnology, Vol. 13(4), pp. 555-565, 22 January, 2014 ...

  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. 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.

  2. Isolation and characterization of human rhinovirus antigenic variants

    Energy Technology Data Exchange (ETDEWEB)

    Watson, D.G.

    1985-01-01

    Isolation of antigenic variants of human rhinovirus types 2, 14, and 17 was attempted by plaquing untreated virus (P-isolates), selecting variants in the presence of homologous antiserum (C-isolates), and by selecting variants in the presence of antibody following 5-fluorouracil mutagenesis (M-isolates). All viruses were triple-plaque purified and purity neutralization tested prior to isolate selection. Based on a fourfold reduction in neutralizing antibody titer to homologous antiserum, no antigenic variation was found in P-isolates from the three serotypes examined. Antigenic variants of all three serotypes could be isolated by the antiserum selection method (C-isolates). However, antigenic variants of RV17 were isolated at a much higher frequency and showed a larger degree of variation than those of RV2 and RV14. At least two of the variants selected, RV17 (C301) and RV2 (M803), failed to be neutralized by the known 89 rhinovirus antiserum. SDS-polyacrylamide gel electrophoresis of (/sup 35/S) methionine-labelled virion polypeptides revealed that each serotype had a characteristic pattern and that selected RV2 and RV17 isolates had patterns identical to those of the prototype strains. By isoelectric focusing an antigenic variant of RV2 was shown to contain altered virion polypeptides VP1 and VP2 whereas two RV17 antigenic variants demonstrated alterations only in the VP1 polypeptide.

  3. Copy number variants in patients with short stature

    NARCIS (Netherlands)

    Duyvenvoorde, H.A. van; Lui, J.C.; Kant, S.G.; Oostdijk, W.; Gijsbers, A.C.; Hoffer, M.J.V.; Karperien, M.; Walenkamp, M.J.; Noordam, C.; Voorhoeve, P.G.; Mericq, V.; Pereira, A.M.; Claahsen-van der Grinten, H.L.; Gool, S.A. van; Breuning, M.H.; Losekoot, M.; Baron, J.; Ruivenkamp, C.A.; Wit, J.M.

    2014-01-01

    Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals

  4. 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...

  5. Treatment of Spelling Variants in Setswana Monolingual Dictionaries

    African Journals Online (AJOL)

    This paper argues that the Setswana language is characterised by spelling variants which are a consequence of multiple factors. It considers spelling variants found amongst individual words as well as those found in multi-word expressions (MWEs). It argues that spelling variation may be a result of historical fissions and ...

  6. 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

  7. Phenotypes and genotypes in individuals with SMC1A variants

    DEFF Research Database (Denmark)

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

    2017-01-01

    SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an ...

  8. Expression and secretion of defined cutinase variants by Aspergillus awamori

    NARCIS (Netherlands)

    Gemeren, I.A. van; Beijersbergen, A.; Hondel, C.A.M.J.J. van den; Verrips, C.T.

    1998-01-01

    Several cutinase variants derived by molecular modelling and site- directed mutagenesis of a cutinase gene from Fusarium solani pisi are poorly secreted by Saccharomyces cerevisiae. The majority of these variants are successfully produced by the filamentous fungus Aspergillus awamori. However, the

  9. Variant Anatomy of the External Jugular Vein | Olabu | Anatomy ...

    African Journals Online (AJOL)

    Variant anatomy of the external jugular vein is important when performing invasive procedures in the neck. Although there are a number of case reports on some of these variations, there are few descriptive cross-sectional regarding the same. This study therefore aimed at describing the variant anatomy of the external ...

  10. 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.

  11. 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.

  12. 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.

  13. Mesotelioma a una edad inesperada

    Directory of Open Access Journals (Sweden)

    Judith Álvarez Otero

    2014-03-01

    Tras una revisión exhaustiva no hemos encontrado asociación entre la inhalación de galvanizado de zinc y el mesotelioma. En la anamnesis dirigida al paciente, éste relataba que durante su infancia acompañaba a su padre durante el período estival a su trabajo (manipulaba uralita para aislamiento de tuberías. Esta exposición encajaría con el período de latencia de 30 años entre exposición al asbesto y la presentación de la enfermedad descrita en los casos típicos de mesotelioma pleural.

  14. 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.

  15. Correlation between leukoaraiosis volume and circle of Willis variants.

    Science.gov (United States)

    Saba, Luca; Raz, Eytan; Fatterpekar, Girish; Montisci, Roberto; di Martino, Michele; Bassareo, Pier Paolo; Piga, Mario

    2015-01-01

    The Circle of Willis (COW) is the main collateral system between the bilateral carotid systems and the posterior circulation. COW normal variants are encountered in up to 62% of subjects. We hypothesize that, in patients with carotid artery stenosis, the presence of COW variants is a risk factor for leukoaraiosis. Forty-seven patients (mean age 72.1 ± 9 years, males = 39) with carotid artery stenosis admitted for carotid endarterectomy were included and underwent an admission brain MRI/MRA. Two neuroradiologists evaluated the COW variants. FLAIR-leukoaraiosis lesion-volume was performed using a semiautomated segmentation technique. Mann-Whitney and Pearson correlations were conducted to identify the correlation between the FLAIR-leukoaraiosis lesion-volume and the COW variants. ROC analysis was performed to evaluate the AUC of FLAIR-leukoaraiosis lesion-volume and presence/absence of COW variants. Pearson correlation demonstrated that the leukoaraiosis lesion-volume is significantly associated with the COW variants number (rho = .358, P = .0215). When patients were dicotomized in two subgroups, with and without COW variants, the lesion-volume was significantly higher in the variants group (P = .0405). The ROC curve analysis showed an AUC of .688 (SE = .083, 95%CI = .525-.823) with a statistically significant P = .0225, between the presence of COW variants and the FLAIR-leukoaraiosis lesion-volume. The presence and the number of COW variants are associated with a higher leukoaraiosis volume in patients with significant internal carotid artery stenosis. Copyright © 2014 by the American Society of Neuroimaging.

  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. Incorporating Non-Coding Annotations into Rare Variant Analysis.

    Directory of Open Access Journals (Sweden)

    Tom G Richardson

    Full Text Available The success of collapsing methods which investigate the combined effect of rare variants on complex traits has so far been limited. The manner in which variants within a gene are selected prior to analysis has a crucial impact on this success, which has resulted in analyses conventionally filtering variants according to their consequence. This study investigates whether an alternative approach to filtering, using annotations from recently developed bioinformatics tools, can aid these types of analyses in comparison to conventional approaches.We conducted a candidate gene analysis using the UK10K sequence and lipids data, filtering according to functional annotations using the resource CADD (Combined Annotation-Dependent Depletion and contrasting results with 'nonsynonymous' and 'loss of function' consequence analyses. Using CADD allowed the inclusion of potentially deleterious intronic variants, which was not possible when filtering by consequence. Overall, different filtering approaches provided similar evidence of association, although filtering according to CADD identified evidence of association between ANGPTL4 and High Density Lipoproteins (P = 0.02, N = 3,210 which was not observed in the other analyses. We also undertook genome-wide analyses to determine how filtering in this manner compared to conventional approaches for gene regions. Results suggested that filtering by annotations according to CADD, as well as other tools known as FATHMM-MKL and DANN, identified association signals not detected when filtering by variant consequence and vice versa.Incorporating variant annotations from non-coding bioinformatics tools should prove to be a valuable asset for rare variant analyses in the future. Filtering by variant consequence is only possible in coding regions of the genome, whereas utilising non-coding bioinformatics annotations provides an opportunity to discover unknown causal variants in non-coding regions as well. This should allow

  18. 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

  19. 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

  20. HIV-1 genetic variants in Kyrgyzstan

    Directory of Open Access Journals (Sweden)

    V Laga

    2012-11-01

    Full Text Available Objectives: During the last two decades, HIV-1 has been spreading rapidly in former Soviet Union republics including Kyrgyzstan. The current molecular monitoring of HIV-infection epidemic is carried out in Russia only with no or limited data from the other FSU countries. The aim of this work was to investigate the prevalence of HIV-1 genetic variants circulating in Kyrgyzstan. Methods: Blood collection from the HIV-infected patients was carried out by local specialists with the informed consent and the questionnaire was answered by each of the patients. The total number of samples was 100. The washed cell pellets were transferred to Moscow following with proviral DNA extraction, PCR amplification and gag, pol and env genes sequencing. The phylogenetic analysis of nucleotide sequences using neighbor-joining method was carried out by MEGA 3 program. The preliminary data were obtained in 22 samples isolated from PBMC of HIV-infected patients from Kyrgyzstan. Results: Among the samples studied 6 (27.3% samples belonged to a subtype CRF02_AG, 16 samples - to subtype A (A1. One of the samples belonging to CRF02_AG, probably, is a recombinant between CRF02_AG and A1. There was no major drug resistance mutations in the samples studied. The minor mutations were presented in small proportions: 1 in PR (L10I, 6 in RT (A62V - in 3 samples, V108G, E138A, Y181F, M184I, L210M - on one sample and 1 in IN (L74M. It was impossible to associate the distribution of mutations with HIV-1 genetic variant. The V3 loop (env gene in 17 samples was analyzed for tropism using geno2pheno program; all samples were found to be R5-viruses. Conclusion: The HIV-1 subtype A seems to dominate in Kyrgyzstan like in other FSU countries. The recombinant CRF02_AG epidemiologically linked to Uzbekistan is quite widespread. The rest of Kyrgyzstan collection is under investigation and the data will be refined soon.

  1. 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.

  2. Lecturas de una tradicion literaria argentina y construccion de una nacion

    National Research Council Canada - National Science Library

    Gonzalez-Sawczuk, Susana Ines

    2008-01-01

    ... argentino Ricardo Piglia (1940). Se destaca un primer momento de genesis de la construccion de una tradicion para una Nacion, con obras que sirven como marco de referencia para pensar las bases de la literatura nacional...

  3. Lecturas de una tradicion literaria argentina y construccion de una nacion

    National Research Council Canada - National Science Library

    Gonzalez-Sawczuk, Susana Ines

    2008-01-01

    La siguiente es una reflexion acerca de la importancia de establecer un patrimonio cultural a partir de la fijacion de una tradicion literaria y de las operaciones de lectura que realiza el escritor...

  4. Variants of polypeptides having cellulolytic enhancing activity and polynucleotides encoding same

    Energy Technology Data Exchange (ETDEWEB)

    Sweeney, Matt; Wogulis, Mark

    2017-11-14

    The present invention relates to polypeptide having cellulolytic enhancing activity variants. The present invention also relates to polynucleotides encoding the variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the variants.

  5. Carcinoma papilar tiroideo variante esclerosante difuso Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma

    National Research Council Canada - National Science Library

    JL D'Addino; MM Pigni; D Siguelboim; H Niepomniszcze

    2012-01-01

    .... La punción de una adenopatía regional resultó adenocarcinoma y la del nódulo tiroideo: quiste coloide. Se intervino quirúrgicamente efectuándose un vaciamiento radical derecho y la biopsia...

  6. The Clinical Significance of Unknown Sequence Variants in BRCA Genes

    Energy Technology Data Exchange (ETDEWEB)

    Calò, Valentina; Bruno, Loredana; Paglia, Laura La; Perez, Marco; Margarese, Naomi [Department of Surgery and Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Via del Vespro 127, 90127 Palermo (Italy); Gaudio, Francesca Di [Department of Medical Biotechnologies and Legal Medicine, University of Palermo, Palermo (Italy); Russo, Antonio, E-mail: lab-oncobiologia@usa.net [Department of Surgery and Oncology, Regional Reference Center for the Biomolecular Characterization and Genetic Screening of Hereditary Tumors, University of Palermo, Via del Vespro 127, 90127 Palermo (Italy)

    2010-09-10

    Germline mutations in BRCA1/2 genes are responsible for a large proportion of hereditary breast and/or ovarian cancers. Many highly penetrant predisposition alleles have been identified and include frameshift or nonsense mutations that lead to the translation of a truncated protein. Other alleles contain missense mutations, which result in amino acid substitution and intronic variants with splicing effect. The discovery of variants of uncertain/unclassified significance (VUS) is a result that can complicate rather than improve the risk assessment process. VUSs are mainly missense mutations, but also include a number of intronic variants and in-frame deletions and insertions. Over 2,000 unique BRCA1 and BRCA2 missense variants have been identified, located throughout the whole gene (Breast Cancer Information Core Database (BIC database)). Up to 10–20% of the BRCA tests report the identification of a variant of uncertain significance. There are many methods to discriminate deleterious/high-risk from neutral/low-risk unclassified variants (i.e., analysis of the cosegregation in families of the VUS, measure of the influence of the VUSs on the wild-type protein activity, comparison of sequence conservation across multiple species), but only an integrated analysis of these methods can contribute to a real interpretation of the functional and clinical role of the discussed variants. The aim of our manuscript is to review the studies on BRCA VUS in order to clarify their clinical relevance.

  7. NECTAR: a database of codon-centric missense variant annotations.

    Science.gov (United States)

    Gong, Sungsam; Ware, James S; Walsh, Roddy; Cook, Stuart A

    2014-01-01

    NECTAR (Non-synonymous Enriched Coding muTation ARchive; http://nectarmutation.org) is a database and web application to annotate disease-related and functionally important amino acids in human proteins. A number of tools are available to facilitate the interpretation of DNA variants identified in diagnostic or research sequencing. These typically identify previous reports of DNA variation at a given genomic location, predict its effects on transcript and protein sequence and may predict downstream functional consequences. Previous reports and functional annotations are typically linked by the genomic location of the variant observed. NECTAR collates disease-causing variants and functionally important amino acid residues from a number of sources. Importantly, rather than simply linking annotations by a shared genomic location, NECTAR annotates variants of interest with details of previously reported variation affecting the same codon. This provides a much richer data set for the interpretation of a novel DNA variant. NECTAR also identifies functionally equivalent amino acid residues in evolutionarily related proteins (paralogues) and, where appropriate, transfers annotations between them. As well as accessing these data through a web interface, users can upload batches of variants in variant call format (VCF) for annotation on-the-fly. The database is freely available to download from the ftp site: ftp://ftp.nectarmutation.org.

  8. A pathway-centric approach to rare variant association analysis

    Science.gov (United States)

    Richardson, Tom G; Timpson, Nicholas J; Campbell, Colin; Gaunt, Tom R

    2017-01-01

    Current endeavours in rare variant analysis are typically underpowered when investigating association signals from individual genes. We undertook an approach to rare variant analysis which utilises biological pathway information to analyse functionally relevant genes together. Conventional filtering approaches for rare variant analysis are based on variant consequence and are therefore confined to coding regions of the genome. Therefore, we undertook a novel approach to this process by obtaining functional annotations from the Combined Annotation Dependent Depletion (CADD) tool, which allowed potentially deleterious variants from intronic regions of genes to be incorporated into analyses. This work was undertaken using whole-genome sequencing data from the UK10K project. Rare variants from the KEGG pathway for arginine and proline metabolism were collectively associated with systolic blood pressure (P=3.32x10−5) based on analyses using the optimal sequence kernel association test. Variants along this pathway also showed evidence of replication using imputed data from the Avon Longitudinal Study of Parents and Children cohort (P=0.02). Subsequent analyses found that the strength of evidence diminished when analysing genes in this pathway individually, suggesting that they would have been overlooked in a conventional gene-based analysis. Future studies that adopt similar approaches to investigate polygenic effects should yield value in better understanding the genetic architecture of complex disease. PMID:27577545

  9. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

    Science.gov (United States)

    Dinckan, N; Du, R; Petty, L E; Coban-Akdemir, Z; Jhangiani, S N; Paine, I; Baugh, E H; Erdem, A P; Kayserili, H; Doddapaneni, H; Hu, J; Muzny, D M; Boerwinkle, E; Gibbs, R A; Lupski, J R; Uyguner, Z O; Below, J E; Letra, A

    2018-01-01

    Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1 genes, as well as known variants in WNT10A, were identified as likely pathogenic in isolated tooth agenesis. Novel variants in KREMEN1 were identified as likely pathogenic in 2 families with suspected syndromic tooth agenesis. Variants in more than 1 gene were identified segregating with tooth agenesis in 2 families, suggesting oligogenic inheritance. Structural modeling of missense variants suggests deleterious effects to the encoded proteins. Functional analysis of an indel variant (c.3607+3_6del) in LRP6 suggested that the predicted resulting mRNA is subject to nonsense-mediated decay. Our results support a major role for WNT pathways genes in the etiology of tooth agenesis while revealing new candidate genes. Moreover, oligogenic cosegregation was suggestive for complex inheritance and potentially complex gene product interactions during development, contributing to improved understanding of the genetic etiology of familial tooth agenesis.

  10. 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.

  11. Numerical calculation of spatially variant anisotropic metamaterials

    Science.gov (United States)

    Gulib, Asad Ullah Hil

    3D printing, or additive manufacturing, is rapidly evolving into a mainstream manufacturing technology that is creating new opportunities for electromagnetics and circuits. 3D printing permits circuits to fully utilize the third dimension allowing more functions in the same amount of space and allows the devices to have arbitrary form factors. 3D printing is letting us discover new physics that is not possible in standard 2D circuits and devices. However, evolving electromagnetics and circuits into three dimensions introduces some serious problems like thermal management, interference, and mutual coupling between the components which degrades performance and hurts signal integrity. Metamaterials are engineered composites that exhibit extreme electromagnetic properties and allow extraordinary control over electromagnetic fields. The EM Lab is developing spatially-variant anisotropic metamaterials (SVAMs) as a solution to mitigate mutual coupling between components. The concept of SVAMs is to electrically stretch the space between components to reduce mutual coupling. To do this, alternating layers of different dielectric must bisect adjacent components. However, the overall dielectric fill must also conform around dozens of electrical components and be smooth, continuous, and defect free. The research described here is the first prototype of an algorithm which generates a SVAM infill between all of the electrical components of a circuit in order to reduce the mutual coupling.

  12. Functional characterization of 21 allelic variants of dihydropyrimidinase.

    Science.gov (United States)

    Hishinuma, Eiji; Akai, Fumika; Narita, Yoko; Maekawa, Masamitsu; Yamaguchi, Hiroaki; Mano, Nariyasu; Oda, Akifumi; Hirasawa, Noriyasu; Hiratsuka, Masahiro

    2017-11-01

    Dihydropyrimidinase (DHP, EC 3.5.2.2), encoded by the gene DPYS, is the second enzyme in the catabolic pathway of pyrimidine and of fluoropyrimidine drugs such as 5-fluorouracil, which are commonly used in anticancer treatment; DHP catalyzes the hydrolytic ring opening of dihydrouracil and dihydro-5-fluorouracil. DPYS mutations are known to contribute to interindividual variations in the toxicity of fluoropyrimidine drugs, but the functional characterization of DHP allelic variants remains inadequate. In this study, in vitro analysis was performed on 22 allelic variants of DHP by transiently expressing wild-type DHP and 21 DHP variants in 293FT cells and characterizing their enzymatic activities by using dihydrouracil and dihydro-5-fluorouracil as substrates. DHP expression levels and oligomeric forms were determined using immunoblotting and blue native PAGE, respectively, and the stability of the DHP variants was assessed by examining the proteins in variant-transfected cells treated with cycloheximide or bortezomib. Moreover, three kinetic parameters, Km, Vmax, and intrinsic clearance (Vmax/Km), for the hydrolysis of dihydrouracil and dihydro-5-fluorouracil were determined. We found that 5/21 variants showed significantly decreased intrinsic clearance as compared to wild-type DHP, and that 9/21 variants were expressed at low levels and were inactive due to proteasome-mediated degradation. The band patterns observed in the immunoblotting of blue native gels corresponded to DHP activity, and, notably, 18/21 DHP variants exhibited decreased or null enzymatic activity and these variants also showed a drastically reduced ability to form large oligomers. Thus, detection of DPYS genetic polymorphisms might facilitate the prediction severe adverse effects of fluoropyrimidine-based treatments. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Robust and Powerful Affected Sibpair Test for Rare Variant Association.

    Science.gov (United States)

    Lin, Keng-Han; Zöllner, Sebastian

    2015-07-01

    Advances in DNA sequencing technology facilitate investigating the impact of rare variants on complex diseases. However, using a conventional case-control design, large samples are needed to capture enough rare variants to achieve sufficient power for testing the association between suspected loci and complex diseases. In such large samples, population stratification may easily cause spurious signals. One approach to overcome stratification is to use a family-based design. For rare variants, this strategy is especially appropriate, as power can be increased considerably by analyzing cases with affected relatives. We propose a novel framework for association testing in affected sibpairs by comparing the allele count of rare variants on chromosome regions shared identical by descent to the allele count of rare variants on nonshared chromosome regions, referred to as test for rare variant association with family-based internal control (TRAFIC). This design is generally robust to population stratification as cases and controls are matched within each sibpair. We evaluate the power analytically using general model for effect size of rare variants. For the same number of genotyped people, TRAFIC shows superior power over the conventional case-control study for variants with summed risk allele frequency f < 0.05; this power advantage is even more substantial when considering allelic heterogeneity. For complex models of gene-gene interaction, this power advantage depends on the direction of interaction and overall heritability. In sum, we introduce a new method for analyzing rare variants in affected sibpairs that is robust to population stratification, and provide freely available software. © 2015 WILEY PERIODICALS, INC.

  14. Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics.

    Science.gov (United States)

    Panyasai, Sitthichai; Fucharoen, Goonnapa; Fucharoen, Supan

    2016-01-01

    There are limited data on hemoglobin (Hb) variants among peoples of northern Thailand. Hence, we determined the prevalence of Hb variants among a large cohort from this region. A study was done on 23,914 subjects recruited from eight provinces during June 2012-January 2014. Hb was analyzed by high performance liquid chromatography (HPLC) and capillary electrophoresis, and corresponding mutations were identified by polymerase chain reaction. Among 23,914 subjects examined, 211 (0.88%) were found to carry 14 different Hb variants. Five α-globin chain variants were identified: Hb Q-Thailand (n = 40; 19.0%), Hb Hekinan (n = 8, 3.8%), Hb Siam (n = 2, 0.9%), Hb Beijing (n = 1, 0.5%), and Hb Kawachi (n = 1, 0.5%), not previously described in the Thai population. Seven β-globin variants, including Hb Hope, Hb Tak, Hb S, Hb J-Bangkok, Hb G-Makassar, Hb C, and Hb Korle-Bu, were found in 115 (54.5%), 30 (14.2%), 3 (1.4%), 3 (1.4%), 1 (0.5%), 1 (0.5%), and 1 (0.5%) subjects, respectively. The remaining five subjects (2.4%) were carriers of two different δ-globin chain variants. A different spectrum and frequencies of Hb variants were noted compared to other geographical areas. Haplotype analysis demonstrated multiple origins for Hbs Hope and Tak and confirmed a non-African origin of Hb C. Several genetic interactions between these variants with other hemoglobinopathies were encountered. Associated hematological phenotypes and novel Hb derivatives formed were presented. The prevalence and molecular heterogeneities of the Hb variants found in this large cohort of the northern Thai people's should prove useful in developing a screening program, and for the performance of additional population genetics studies of hemoglobinopathy in the region.

  15. El Lulo, una Fruta Andina poco Conocida

    Directory of Open Access Journals (Sweden)

    Hodge W.H.

    1947-06-01

    Full Text Available La Solanum Quitoense (lulo es una planta herbácea gruesa y suculenta que bajo condiciones normales puede alcanzar una altura de 2 ½ metros. Las hojas gigantescas, frecuentemente provistas de espinas cortas y espaciadas pueden alcanzar 60 centímetros de largo.

  16. : una obra maestra de Eloy Tejero

    National Research Council Canada - National Science Library

    Errazuriz M., Carlos Jose

    2007-01-01

    ... que puedan intentar son fruto del trabajo conjunto de un buen numero de autores, en este caso todo el ingente material se halla solidamente aunado por la mente y la pluma de solo uno, Eloy Tejero, con una larga y fecunda trayectoria academica en la Facultad de Derecho Canonico de la Universidad de Navarra. Por esto, se trata de una monografia, en e...

  17. TAMIZAJE DE UNA LIBRERÍA DE cDNA DE TRYPANOSOMA CRUZ/ CON UNA MEZCLA DE SUEROS CHAGÁSICOS CRÓNICOS

    Directory of Open Access Journals (Sweden)

    Paula Pavía

    2002-12-01

    Full Text Available En el presente trabajo se realizó el tamizaje de una librería de cDNA de Trypanosoma cmzi con una mezcla de sueros chagásicos crónicos, seleccionándose cuatro clones (PI, P2, P3 y P4 con base en su mayor intensidad de reactividad. De estos clones, P2 y P4 resultaron ser idénticos. PI se encontró que codifica para el extremo carboxilo-terminal de la proteína EF-Hand 5 variante 1 de T. cn¡zi y los clones P2 y P3 codifican para el extremo carboxilo terminal de "nuevas" proteínas del parásito que carecen de homología con proteínas previamente reportadas; siendo posiblemente P3 una proteína de membr_ana del parásito. La presencia de Jos productos codificados por estos clones en el estadio tripomastigote, sumado a su reactividad frente a sueros de pacientes chagásicos mas no de controles no infectados, hacen de estas proteínas candidatos para marcadores asociados a la fase crónica de la enfermedad de chagas.

  18. Identification of a novel alpha1-antitrypsin variant

    Directory of Open Access Journals (Sweden)

    Camille de Seynes

    2017-01-01

    We report the identification of a novel alpha1-antitrypsin variant in a 64-year old woman presenting with dyspnea on exertion. Imaging revealed bilateral bronchiectasis associated with moderate panacinar emphysema. The pulmonary function tests (PFTs were subnormal but hypoxemia was noticed and A1AT quantitative analysis revealed a severe deficiency. DNA sequencing showed compound heterozygosity for the PIZ variant and a novel missense variant p.Phe232Leu (p.Phe208Leu. No specific treatment was proposed since PFTs were within the normal range at this stage of the disease. Close follow-up of pulmonary and hepatic parameters was recommended.

  19. 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...... trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably...

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

    Directory of Open Access Journals (Sweden)

    Khan, Richard Lester et al.

    2009-01-01

    Full Text Available Objetivos: relatar o caso de um paciente com variante de Dandy Walker, chamando atenção para a importância da suspeita, investigação e manejo das repercussões clínicas. Descrição do caso: é relatado o caso de um paciente do sexo masculino, com quadro clínico e radiológico típico da Variante de Dandy Walker. Durante o pré-natal, através de ecografia obstétrica com 23 semanas e 3 dias, apresentou alterações sugestivas de Síndrome de Dandy Walker. Ao nascimento apresentou exame físico com fenda palatina, criptorquidia à direita, hexodactilia em ambos os pés. Apresentava ainda ecocardiograma com forame oval patente e persistência do canal arterial. O diagnóstico foi estabelecido através da ressonância magnética realizada após o nascimento, que evidenciava hipoplasia do vermis cerebelar, alargamento da fossa posterior e leve dilatação ventricular. 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.

  1. Borges: una textualidad del encuentro

    Directory of Open Access Journals (Sweden)

    Carlos E. Rojas C.

    2011-12-01

    Full Text Available En varias ocasiones a lo largo de su obra Borges define el texto como un encuentro con el lector. No hace de él un objeto, una cosa entre las cosas, sino un evento, un diálogo. Este artículo explora las implicaciones de esa definición del texto a partir de los ensayos de Borges, de su práctica de la lectura y la escritura, de los encuentros que tienen lugar en sus cuentos y en las resonancias que parece haber entre Borges y otro filósofo del encuentro, Louis Althusser. Borges defines the text as an encounter with the reader, several times throughout his work. He does not describe it as an object, a thing among other things, but as an event, as a dialog. This article explores the implications of such a definition of the text. It connects what Borges says in his essays with his own practice of reading and writing, and with the numerous encounters that take place in his stories. It also explores some contact points between Borges and another philosopher of the encounter, Louis Althusser.

  2. 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.

  3. 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.

  4. 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.

  5. Hacia una psicoterapia sin adjetivos

    Directory of Open Access Journals (Sweden)

    Miguel Sorín

    1994-01-01

    Full Text Available En un análisis crítico de los sistemas psicoterapéuticos contemporáneos, el autor comienza señalando que los progresos en medicina han sido mucho mayores que en psiquiatría. Afirma que los avances deben darse básicamente desde la psicología. Se pregunta cuál ha sido la evolución y el progreso de la psicoterapia. Afirma que la prevalencia del psicoanálisis en algunos países no es necesariamente criterio de verdad y legitimidad científica del sistema freudiano. Al indagar si han evolucionado las psicoterapias considera que algunas se cerraron, como el psicoanálisis, otras evolucionaron y se ampliaron como el conductismo. Hoy la terapia del comportamiento se ha separado considerablemente del conductismo original. La solución no es el eclecticismo. Se necesita ser congruente y sistemático. La solución es una psicoterapia sin adjetivos

  6. 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

  7. Hierarchical generalized linear models for multiple groups of rare and common variants: jointly estimating group and individual-variant effects.

    Directory of Open Access Journals (Sweden)

    Nengjun Yi

    2011-12-01

    Full Text Available Complex diseases and traits are likely influenced by many common and rare genetic variants and environmental factors. Detecting disease susceptibility variants is a challenging task, especially when their frequencies are low and/or their effects are small or moderate. We propose here a comprehensive hierarchical generalized linear model framework for simultaneously analyzing multiple groups of rare and common variants and relevant covariates. The proposed hierarchical generalized linear models introduce a group effect and a genetic score (i.e., a linear combination of main-effect predictors for genetic variants for each group of variants, and jointly they estimate the group effects and the weights of the genetic scores. This framework includes various previous methods as special cases, and it can effectively deal with both risk and protective variants in a group and can simultaneously estimate the cumulative contribution of multiple variants and their relative importance. Our computational strategy is based on extending the standard procedure for fitting generalized linear models in the statistical software R to the proposed hierarchical models, leading to the development of stable and flexible tools. The methods are illustrated with sequence data in gene ANGPTL4 from the Dallas Heart Study. The performance of the proposed procedures is further assessed via simulation studies. The methods are implemented in a freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/.

  8. Hierarchical generalized linear models for multiple groups of rare and common variants: jointly estimating group and individual-variant effects.

    Science.gov (United States)

    Yi, Nengjun; Liu, Nianjun; Zhi, Degui; Li, Jun

    2011-12-01

    Complex diseases and traits are likely influenced by many common and rare genetic variants and environmental factors. Detecting disease susceptibility variants is a challenging task, especially when their frequencies are low and/or their effects are small or moderate. We propose here a comprehensive hierarchical generalized linear model framework for simultaneously analyzing multiple groups of rare and common variants and relevant covariates. The proposed hierarchical generalized linear models introduce a group effect and a genetic score (i.e., a linear combination of main-effect predictors for genetic variants) for each group of variants, and jointly they estimate the group effects and the weights of the genetic scores. This framework includes various previous methods as special cases, and it can effectively deal with both risk and protective variants in a group and can simultaneously estimate the cumulative contribution of multiple variants and their relative importance. Our computational strategy is based on extending the standard procedure for fitting generalized linear models in the statistical software R to the proposed hierarchical models, leading to the development of stable and flexible tools. The methods are illustrated with sequence data in gene ANGPTL4 from the Dallas Heart Study. The performance of the proposed procedures is further assessed via simulation studies. The methods are implemented in a freely available R package BhGLM (http://www.ssg.uab.edu/bhglm/).

  9. 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

  10. 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

  11. 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.

  12. Two variants of minimum discarded fill ordering

    Energy Technology Data Exchange (ETDEWEB)

    D' Azevedo, E.F. (Oak Ridge National Lab., TN (USA)); Forsyth, P.A.; Tang, Wei-Pai (Waterloo Univ., ON (Canada). Dept. of Computer Science)

    1991-01-01

    It is well known that the ordering of the unknowns can have a significant effect on the convergence of Preconditioned Conjugate Gradient (PCG) methods. There has been considerable experimental work on the effects of ordering for regular finite difference problems. In many cases, good results have been obtained with preconditioners based on diagonal, spiral or natural row orderings. However, for finite element problems having unstructured grids or grids generated by a local refinement approach, it is difficult to define many of the orderings for more regular problems. A recently proposed Minimum Discarded Fill (MDF) ordering technique is effective in finding high quality Incomplete LU (ILU) preconditioners, especially for problems arising from unstructured finite element grids. Testing indicates this algorithm can identify a rather complicated physical structure in an anisotropic problem and orders the unknowns in the preferred'' direction. The MDF technique may be viewed as the numerical analogue of the minimum deficiency algorithm in sparse matrix technology. At any stage of the partial elimination, the MDF technique chooses the next pivot node so as to minimize the amount of discarded fill. In this work, two efficient variants of the MDF technique are explored to produce cost-effective high-order ILU preconditioners. The Threshold MDF orderings combine MDF ideas with drop tolerance techniques to identify the sparsity pattern in the ILU preconditioners. These techniques identify an ordering that encourages fast decay of the entries in the ILU factorization. The Minimum Update Matrix (MUM) ordering technique is a simplification of the MDF ordering and is closely related to the minimum degree algorithm. The MUM ordering is especially for large problems arising from Navier-Stokes problems. Some interesting pictures of the orderings are presented using a visualization tool. 22 refs., 4 figs., 7 tabs.

  13. El lugar en América: de una anamorfosis ajena a una hiperrealidad propia

    Directory of Open Access Journals (Sweden)

    Capellà Miternique Hugo

    2012-12-01

    Full Text Available El objetivo del presente artículo es entender como el lugar proyectado por los europeos en América se ha transformado en una utopía real para los nuevos referentes. El lugar en América ha sufrido una anamorfosis al convertir su realidad espacio-temporal en una simulación posmoderna. En primer lugar definiremos, desde un punto de vista teórico, el proceso de anamorfosis del lugar. En segundo lugar indagaremos en el proceso de transformación desde una realidad cada vez más ficticia hasta convertirse en una ficción realizada que aparece como un nuevo referente propio. Concluiremos observando como la desvinculación espacio-temporal del lugar ha sido considerada como una nueva forma de identidad en América, configurándose como una forma de liberación poscolonial y posmoderna.

  14. 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. Chymotrypsin...... variant B showed 72% sequence identity with the A-variant and 64% and 62%, respectively, with the bovine counterparts A and B, all consisting of 245 amino acids. This new sequence contains a higher proportion of charged residues compared with bovine chymotrypsin but fewer polar hydrogen-bond forming...... side-chains may contribute to the maintenance of flexibility at low temperatures. Several amino-acid sequence differences adjacent to the catalytic site are observed in the two cod chymotrypsin variants which also differ in kinetic properties. Unlike the mammalian chymotrypsins, which contain several...

  15. 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 ...

  16. Infectious Bronchitis Virus Variants: Molecular Analysis and Pathogenicity Investigation

    Directory of Open Access Journals (Sweden)

    Shu-Yi Lin

    2017-09-01

    Full Text Available Infectious bronchitis virus (IBV variants constantly emerge and pose economic threats to poultry farms worldwide. Numerous studies on the molecular and pathogenic characterization of IBV variants have been performed between 2007 and 2017, which we have reviewed herein. We noted that viral genetic mutations and recombination events commonly gave rise to distinct IBV genotypes, serotypes and pathotypes. In addition to characterizing the S1 genes, full viral genomic sequencing, comprehensive antigenicity, and pathogenicity studies on emerging variants have advanced our understanding of IBV infections, which is valuable for developing countermeasures against IBV field outbreaks. This review of IBV variants provides practical value for understanding their phylogenetic relationships and epidemiology from both regional and worldwide viewpoints.

  17. cyvcf2: fast, flexible variant analysis with Python.

    Science.gov (United States)

    Pedersen, Brent S; Quinlan, Aaron R

    2017-06-15

    Variant call format (VCF) files document the genetic variation observed after DNA sequencing, alignment and variant calling of a sample cohort. Given the complexity of the VCF format as well as the diverse variant annotations and genotype metadata, there is a need for fast, flexible methods enabling intuitive analysis of the variant data within VCF and BCF files. We introduce cyvcf2 , a Python library and software package for fast parsing and querying of VCF and BCF files and illustrate its speed, simplicity and utility. bpederse@gmail.com or aaronquinlan@gmail.com. cyvcf2 is available from https://github.com/brentp/cyvcf2 under the MIT license and from common python package managers. Detailed documentation is available at http://brentp.github.io/cyvcf2/.

  18. 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

  19. Genotype and phenotype spectrum of NRAS germline variants

    National Research Council Canada - National Science Library

    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

    .... Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants...

  20. variant formula for predicting peak expiratory flow rate in pregnant ...

    African Journals Online (AJOL)

    DR. AMINU

    Accepted: November, 2009. VARIANT FORMULA FOR PREDICTING PEAK EXPIRATORY FLOW RATE IN. PREGNANT WOMEN IN KURA LOCAL GOVERNMENT AREA, KANO STATE,. NIGERIA. A. I. Salisu. Department of Human Physiology, Faculty of Medicine, Bayero University, Kano salisahmedibrahim@yahoo.co.uk;.

  1. 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.

  2. HD-CNV: hotspot detector for copy number variants

    National Research Council Canada - National Science Library

    Butler, Jenna L; Osborne Locke, Marjorie Elizabeth; Hill, Kathleen A; Daley, Mark

    2013-01-01

    ... (hotspot detector for copy number variants) is a tool for downstream analysis of previously identified CNV regions from multiple samples, and it detects recurrent regions by finding cliques in an interval graph generated from the input...

  3. vipR: variant identification in pooled DNA using R

    National Research Council Canada - National Science Library

    Altmann, Andre; Weber, Peter; Quast, Carina; Rex-Haffner, Monika; Binder, Elisabeth B; Müller-Myhsok, Bertram

    2011-01-01

    .... Thus, recently, screens for rare sequence variants were carried out in samples of pooled DNA, in which equimolar amounts of DNA from multiple individuals are mixed prior to sequencing with HTS...

  4. 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.

  5. Anatomic variant of the median nerve in the carpal tunnel.

    Science.gov (United States)

    Steinberg, E L; Luger, E; Taitz, C; Arensburg, B

    1998-07-01

    Forty-six hands of 23 cadavers (15 female and 8 male) were dissected to observe the patterns of distribution of the median nerve. The findings showed that in 33 hands the median nerve had a normal distribution of its branches. Also identified was the commonly recognized transligamentous variant, where the recurrent branch pierces the carpal ligament 2 to 4 mm proximal to the distal end of the carpal tunel. This latter variant occurred in 13 hands. The current study focused on the presence of an additional variant, not previously identified, that occurred in 10 hands. This branch, considered sensory, was approximately 1 mm wide and pierced the lateral carpal ligament 3 to 6 mm distal to the proximal edge of the tunnel. The importance of recognition of variants of median nerve distribution in surgery of the carpal tunnel is emphasized.

  6. Pharyngeal-Cervical-Brachial Variant of Guillain-Barre Syndrome

    OpenAIRE

    J Gordon Millichap; John J Millichap

    2014-01-01

    Investigators from National University Hospital, Singapore, review the clinical features of 13 cases of pharyngeal-cervical-brachial (PCB) variant of Guillain-Barre syndrome (GBS) and outline new diagnostic criteria.

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

    OpenAIRE

    N. Abrol; Devasia, A.

    2014-01-01

    Watering-can perineum is a known complication of inflammatory urethral stricture disease. We report a case of disintegrating perineal disease, a fulminant variant of watering-can perineum, in an immunocompetent patient.

  8. 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

  9. Association of Genetic Variants of Milk Proteins with Milk Production ...

    African Journals Online (AJOL)

    Administrator

    Aschaffenburg & Drewry,. 1955; 1957) researchers have become interested in the genetic polymorphism of milk proteins. It is known today that there are at least 39 genetic variants of six milk protein fractions (Eigel et al., 1984; Bouniol et al.,.

  10. Detection of combined genomic variants in a Jordanian family with ...

    Indian Academy of Sciences (India)

    TSHR) gene was performed by direct sequencing of genomic DNA extracted from peripheral blood leukocytes of all family members. The sequence analysis of all TSHR gene exons and intron borders revealed two genomic variants. The first ...

  11. 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.

  12. 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

  13. La intimidad de una escritura

    Directory of Open Access Journals (Sweden)

    Roxana Páez

    2012-10-01

    Full Text Available Las notas de un bloc, las hojas sueltas que acompañan el proceso de elaboración de la primera novela de Manuel Puig son la escritura íntima donde se ve la huella de la transformación de ciertos materiales autobiográficos en ficción. En La traición de Rita Hayworth, novela de iniciación, la cuestión resulta todavía más interesante, porque es con la que Manuel Puig se inicia como autor, pero también porque es una novela sin narrador. Las notas halladas muestran el back-stage de los conflictos enunciativos durante la gestación del libro, a veces más próximas a una investigación, como arqueología de la voz, que a la construcción ficcional. Más que en sus libros siguientes, el autor es un agente de la mutación epistemológica de su propia historia.Les notes d’un cahier ou les feuillets volants qui accompagnent le processus d’élaboration du premier roman de Manuel Puig, gardent la trace de l’écriture intime, où l’on voit le changement des matériaux autobiographiques en fiction. Dans La trahison de Rita Hayworth, roman d’initiation, la question est encore plus intéressante : c’est le roman qui marque le début littéraire de son auteur, mais c’est aussi un roman sans narrateur. Les notes des archives montrent les coulisses des conflits d’énonciation qui surgissent lors de la gestation du roman. Ce sont des notes parfois plus proches d’une enquête que d’une construction fictionnelle, qui fonctionnent souvent comme archéologies de la voix. Plus encore que dans les romans qui suivent, l’auteur devient ainsi agent de la mutation épistémologique de sa propre histoire.Handwritten notes in a block, as well as some lose pages that come along with the process of the development of Manuel Puig’s first novel appear as intimate writing. We can read in them traces of the transformation of autobiographical material into fiction. In Betrayed by Rita Hayworth, a bildungsroman, the question becomes more interesting

  14. 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.

  15. Prevalence of Titin Truncating Variants in General Population.

    Directory of Open Access Journals (Sweden)

    Oyediran Akinrinade

    Full Text Available Truncating titin (TTN mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM. Clinical interpretation of these variants can be challenging, as these variants are also present in reference populations. We carried out systematic analyses of TTN truncating variants (TTNtv in publicly available reference populations, including, for the first time, data from Exome Aggregation Consortium (ExAC. The goal was to establish more accurate estimate of prevalence of different TTNtv to allow better clinical interpretation of these findings.Using data from 1000 Genomes Project, Exome Sequencing Project (ESP and ExAC, we estimated the prevalence of TTNtv in the population. In the three population datasets, 52-54% of TTNtv were not affecting all TTN transcripts. The frequency of truncations affecting all transcripts in ExAC was 0.36% (0.32% - 0.41%, 95% CI and 0.19% (0.16% - 0.23%, 95% CI for those affecting the A-band. In the A-band region, the prevalences of frameshift, nonsense and essential splice site variants were 0.057%, 0.090%, and 0.047% respectively. Cga/Tga (arginine/nonsense-R/* transitional change at CpG mutation hotspots was the most frequent type of TTN nonsense mutation accounting for 91.3% (21/23 of arginine residue nonsense mutation (R/* at TTN A-band region. Non-essential splice-site variants had significantly lower proportion of private variants and higher proportion of low-frequency variants compared to essential splice-site variants (P = 0.01; P = 5.1 X 10-4, respectively.A-band TTNtv are more rare in the general population than previously reported. Based on this analysis, one in 500 carries a truncation in TTN A-band suggesting the penetrance of these potentially harmful variants is still poorly understood, and some of these variants do not manifest as autosomal dominant DCM. This calls for caution when interpreting TTNtv in individuals and families with no history of DCM. Considering the

  16. Androgen Receptor Splice Variants and Resistance to Taxane Chemotherapy

    Science.gov (United States)

    2017-10-01

    AWARD NUMBER: W81XWH-14-1-0480 TITLE: Androgen Receptor Splice Variants and Resistance to Taxane Chemotherapy PRINCIPAL INVESTIGATOR...Splice Variants and Resistance to Taxane Chemotherapy 5a. CONTRACT NUMBER 5b. GRANT NUMBER W81XWH-14-1-0480 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S...During this reporting period, we have obtained approval for a no-cost extension of this award and change of research focus in the final year. This

  17. HIV-1 genetic variants in the Russian Far East.

    Science.gov (United States)

    Kazennova, Elena; Laga, Vita; Lapovok, Ilya; Glushchenko, Nataliya; Neshumaev, Dmitry; Vasilyev, Alexander; Bobkova, Marina

    2014-08-01

    A molecular analysis of HIV-1 subtypes and recombinants circulating in cities in the Russian Far East was performed. The study included samples from 201 outpatients from Vladivostok, Khabarovsk, and Blagoveshchensk. In most parts of Russia, patients are infected with HIV-1 subtype A, known as the IDU-A variant. Subtype B, including the IDU-B variant, is rare in Russia but widespread in the Ukraine, and the CRF02_AG is prevalent in Central Asian countries and Siberia, Russia. One of the challenges of this study in the Far East was to determine whether the molecular landscape of HIV infection in this region is influenced by the bordering countries, including China and Japan, where a distinct set of HIV subtypes is circulating, such as B', C, and CRF01_AE. The distribution of HIV-1 genetic variants in the cities studied was as follows: subtype A (IDU-A), 55.7%; subtype B, 25.3% (IDU-B variant-24.3%); subtype C, 10.0%; CRF02_AG, 1.5%; and CRF63_02A1, 7.5%. A phylogenetic analysis confirmed the relationship of subtype A viruses with the IDU-A variant predominating in Ukraine, Russia and other former Soviet Union (FSU) countries, of subtype B viruses with IDU-B in the Ukraine and of CRF02_AG variants with variants in Uzbekistan, Russia, and other former USSR countries. Subtype C sequences were not uniform, and most clustered between each other and HIV-1 sequences originating from Africa; there was only one sample possibly related to Chinese variants. Thus, despite close cultural and commercial relationships among Russia, China, and Japan, the distribution of HIV-1 subtypes in the Russian Far East is still primarily influenced by contacts with the countries of the former USSR.

  18. Histone variant innovation in a rapidly evolving chordate lineage

    Directory of Open Access Journals (Sweden)

    Jansen Pascal WTC

    2011-07-01

    Full Text Available Abstract Background Histone variants alter the composition of nucleosomes and play crucial roles in transcription, chromosome segregation, DNA repair, and sperm compaction. Modification of metazoan histone variant lineages occurs on a background of genome architecture that shows global similarities from sponges to vertebrates, but the urochordate, Oikopleura dioica, a member of the sister group to vertebrates, exhibits profound modification of this ancestral architecture. Results We show that a histone complement of 47 gene loci encodes 31 histone variants, grouped in distinct sets of developmental expression profiles throughout the life cycle. A particularly diverse array of 15 male-specific histone variants was uncovered, including a testes-specific H4t, the first metazoan H4 sequence variant reported. Universal histone variants H3.3, CenH3, and H2A.Z are present but O. dioica lacks homologs of macroH2A and H2AX. The genome encodes many H2A and H2B variants and the repertoire of H2A.Z isoforms is expanded through alternative splicing, incrementally regulating the number of acetylatable lysine residues in the functionally important N-terminal "charge patch". Mass spectrometry identified 40 acetylation, methylation and ubiquitylation posttranslational modifications (PTMs and showed that hallmark PTMs of "active" and "repressive" chromatin were present in O. dioica. No obvious reduction in silent heterochromatic marks was observed despite high gene density in this extraordinarily compacted chordate genome. Conclusions These results show that histone gene complements and their organization differ considerably even over modest phylogenetic distances. Substantial innovation among all core and linker histone variants has evolved in concert with adaptation of specific life history traits in this rapidly evolving chordate lineage.

  19. Stress Induced Cardiomyopathy with Midventricular Ballooning: A Rare Variant

    OpenAIRE

    Muhammad Umer Siddiqui; Michael C. Desiderio; Nicholas Ricculli; Arthur Rusovici

    2015-01-01

    Stress cardiomyopathy (SCM) also referred to as the ?broken heart syndrome? is a condition in which intense emotional or physical stress can cause fulminant and reversible cardiac muscle weakness. SCM most commonly involves the apical segment of left ventricle but newer and rare variants have recently been seen reported. We here report a case of rare midventricular variant of stress related cardiomyopathy. A 72-year-old female with past medical history, only significant for SVT, presented wit...

  20. 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...

  1. Variants affecting exon skipping contribute to complex traits.

    Directory of Open Access Journals (Sweden)

    Younghee Lee

    Full Text Available DNA variants that affect alternative splicing and the relative quantities of different gene transcripts have been shown to be risk alleles for some Mendelian diseases. However, for complex traits characterized by a low odds ratio for any single contributing variant, very few studies have investigated the contribution of splicing variants. The overarching goal of this study is to discover and characterize the role that variants affecting alternative splicing may play in the genetic etiology of complex traits, which include a significant number of the common human diseases. Specifically, we hypothesize that single nucleotide polymorphisms (SNPs in splicing regulatory elements can be characterized in silico to identify variants affecting splicing, and that these variants may contribute to the etiology of complex diseases as well as the inter-individual variability in the ratios of alternative transcripts. We leverage high-throughput expression profiling to 1 experimentally validate our in silico predictions of skipped exons and 2 characterize the molecular role of intronic genetic variations in alternative splicing events in the context of complex human traits and diseases. We propose that intronic SNPs play a role as genetic regulators within splicing regulatory elements and show that their associated exon skipping events can affect protein domains and structure. We find that SNPs we would predict to affect exon skipping are enriched among the set of SNPs reported to be associated with complex human traits.

  2. 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.

  3. Update on lichen planus and its clinical variants.

    Science.gov (United States)

    Weston, Gillian; Payette, Michael

    2015-08-01

    Lichen planus (LP) is an inflammatory skin condition with characteristic clinical and histopathological findings. Classic LP typically presents as pruritic, polygonal, violaceous flat-topped papules and plaques; many variants in morphology and location also exist, including oral, nail, linear, annular, atrophic, hypertrophic, inverse, eruptive, bullous, ulcerative, lichen planus pigmentosus, lichen planopilaris, vulvovaginal, actinic, lichen planus-lupus erythematosus overlap syndrome, and lichen planus pemphigoides. Clinical presentation of the rarer variant lesions may be largely dissimilar to classic LP and therefore difficult to diagnose based solely on clinical examination. However, histopathological examination of LP and LP-variant lesions reveal similar features, aiding in the proper diagnosis of the disease. Management of LP and LP variants aims to control symptoms and to decrease time from onset to resolution; it often involves topical corticosteroids, but varies depending on the severity and location of the lesion. The literature contains an array of reports on the variations in presentation and successful management of LP and its variants. A familiarity with LP and its variants is important in achieving timely recognition and management of the disease.

  4. [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.

  5. Lightning-fast genome variant detection with GROM.

    Science.gov (United States)

    Smith, Sean D; Kawash, Joseph K; Grigoriev, Andrey

    2017-10-01

    Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users to run multiple algorithms to find variants. We present Genome Rearrangement OmniMapper (GROM), a novel comprehensive variant detection algorithm accepting aligned read files as input and finding SNVs, indels, structural variants (SVs), and copy number variants (CNVs). We show that GROM outperforms state-of-the-art methods on 7 validated benchmarks using 2 whole genome sequencing (WGS) data sets. Additionally, GROM boasts lightning-fast run times, analyzing a 50× WGS human data set (NA12878) on commonly available computer hardware in 11 minutes, more than an order of magnitude (up to 72 times) faster than tools detecting a similar range of variants. Addressing the needs of big data analysis, GROM combines in 1 algorithm SNV, indel, SV, and CNV detection, providing superior speed, sensitivity, and precision. GROM is also able to detect CNVs, SNVs, and indels in non-paired-read WGS libraries, as well as SNVs and indels in whole exome or RNA sequencing data sets. © The Authors 2017. Published by Oxford University Press.

  6. An Efficient Multiple Variants Coordination Framework for Differential Evolution.

    Science.gov (United States)

    Zhang, Sheng Xin; Zheng, Shao Yong; Zheng, Li Ming

    2017-09-01

    Differential evolution (DE) is recognized as a simple but powerful algorithm in the family of evolutionary algorithms. Over the past two decades, many advanced DE variants with significantly improved performance have been proposed. However, the variants may only achieve the best performance on a certain type of functions. Moreover, a specific optimizer may not always be suitable for the whole optimization process. To overcome these weaknesses, this paper proposes a multiple variants coordination (MVC) framework with two mechanisms, namely, the multiple variants adaptive selecting mechanism and the multiple variants adaptive solutions preserving mechanisms (MV-APM). In MVC, the evolution process is divided into nonoverlap segments with equal numbers of generations. Each segment includes the learning generations (LGs) and executing generations (EGs). In LG, all the candidate DE optimizers are utilized independently. The best performing optimizer is determined and then utilized in EG in the same segment. Furthermore, MV-APM maintains the population by adaptively preserving promising solutions generated by multiple optimizers. Numerical experiments on the CEC2014 benchmark suit show that the proposed MVC framework can significantly improve the performance of the baseline algorithms and the resulted algorithm significantly outperform the start-of-the-art and up-to-date DEs. Moreover, as a general framework, MVC can also be applied to coordinate multiple improved DE variants to further enhance their performance.

  7. 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.

  8. 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.

  9. Estudio de una forma de equilibrio

    OpenAIRE

    Ruiz Wilches, Belisario

    2010-01-01

    "Vamos a estudiar la forma de equilibrio que toma un cuerpo parcial o totalmente fluído, cuando gira alrededor de un eje que pasa por su centro de gravedad, estando sujeto, por una parte, a la atracción Newtoniana y por la otra, a una acción que tiende a darle una forma de equilibrio dinámico, diferente del estático. Estudiaremos solamente la curva que representa la sección meridiana del cuerpo, pues como la superficie de éste es engendrada por la rotación de dicha curva alrededor de un eje, ...

  10. Mapa de mercado, una herramienta estrategica

    Directory of Open Access Journals (Sweden)

    Leal Iga, J.

    2004-01-01

    Full Text Available Debido a la fuerte competencia, las ventas de productos sustitutos se han convertido en un tema complejo para los mercadólogos. El análisis de mercado contiene una compleja mezcla de variables que son difíciles de interpretar. El autor propone una matriz estratégica que proporciona al mercadólogo una herramienta a muy bajo costo, para tratar de conocer su posición competitiva actual, así como la de sus contrincantes y la tendencia hacia donde se encaminan sus posibilidades comerciales.

  11. Control de una dosificadora de sellado

    OpenAIRE

    Hita Pérez, Sergio

    2014-01-01

    A aquest projecte es desenvolupa el disseny mecànic, elèctric i del control d’una dosificadora de segellat. El principal objectiu d’aquest projecte és dissenyar, fabricar i posar en marxa una taula de coordenades capaç de dosificar un cordó de segellat de qualsevol geometria mitjançant l’elaboració d’un programa senzill per part del client mitjançant una interfase senzilla similar a la d’un CNC. La intenció és que el client sigui capaç d’elaborar els seus propis programes segons les sev...

  12. EI pensamiento organizacional estrategico: una perspectiva diacronica

    OpenAIRE

    Mauricio Sanabria

    2004-01-01

    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 ser...

  13. Genetic risk variants for social anxiety.

    Science.gov (United States)

    Stein, Murray B; Chen, Chia-Yen; Jain, Sonia; Jensen, Kevin P; He, Feng; Heeringa, Steven G; Kessler, Ronald C; Maihofer, Adam; Nock, Matthew K; Ripke, Stephan; Sun, Xiaoying; Thomas, Michael L; Ursano, Robert J; Smoller, Jordan W; Gelernter, Joel

    2017-03-01

    Social anxiety is a neurobehavioral trait characterized by fear and reticence in social situations. Twin studies have shown that social anxiety has a heritable basis, shared with neuroticism and extraversion, but genetic studies have yet to demonstrate robust risk variants. We conducted genomewide association analysis (GWAS) of subjects within the Army Study To Assess Risk and Resilience in Servicemembers (Army STARRS) to (i) determine SNP-based heritability of social anxiety; (ii) discern genetic risk loci for social anxiety; and (iii) determine shared genetic risk with neuroticism and extraversion. GWAS were conducted within ancestral groups (EUR, AFR, LAT) using linear regression models for each of the three component studies in Army STARRS, and then meta-analyzed across studies. SNP-based heritability for social anxiety was significant (h2g  = 0.12, P = 2.17 × 10-4 in EUR). One meta-analytically genomewide significant locus was seen in each of EUR (rs708012, Chr 6: BP 36965970, P = 1.55 × 10-8 ; beta = 0.073) and AFR (rs78924501, Chr 1: BP 88406905, P = 3.58 × 10-8 ; beta = 0.265) samples. Social anxiety in Army STARRS was significantly genetically correlated (negatively) with extraversion (rg  = -0.52, se = 0.22, P = 0.02) but not with neuroticism (rg  = 0.05, se = 0.22, P = 0.81) or with an anxiety disorder factor score (rg  = 0.02, se = 0.32, P = 0.94) from external GWAS meta-analyses. This first GWAS of social anxiety confirms a genetic basis for social anxiety, shared with extraversion but possibly less so with neuroticism. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  14. 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

  15. Alternative Technical Summary Report: Electrometallurgical Treatment Variant

    Energy Technology Data Exchange (ETDEWEB)

    Gray, L.W.

    1995-11-30

    Immobilization is the fixation of the surplus fissile materials in an acceptable matrix such as glass or ceramics to create an environmentally benign form for disposal in a repository. In addition to the traditional characteristics required of an immobilization form to achieve isolation of the fissile material from the biosphere over geologic times, the immobilization form for the Fissile Materials Disposition Program (FMDP) must also possess the property that it is inherently as unattractive and inaccessible as the fissile material from commercial spent fuel. This latter requirement is similar to the wording of the ''spent fuel standard'' invoked in the National Academy of Sciences (NAS) study on plutonium disposition. High-level wastes (HLW) or separated cesium ({sup 137}Cs), can be added with the fissile material into the waste form to create a radiation field that increases the proliferation resistance and decreases reuse by the host nation in the following ways: (1) Plutonium will be diluted with elements that must be removed by extensive chemical processing to return it to weapons-usable purity; (2) The immobilized plutonium canisters will contain approximately 2 tonnes (2000 kg; 2.2 tons) of mass, thereby forcing the use of heavy equipment to move the canisters; (3) A gamma radiation barrier will be added to the immobilized plutonium canisters; the present concept is to add a radiation barrier that is greater than 1 Gy (100 rad) per hour at 1 m (3 ft) 30 years after fabrication; (4) These canisters will then be sealed in casks and emplaced into drifts in a federal repository where they will be monitored for 100 years before the repository is sealed. This immobilization process is shown conceptually in Figure 1. In the electrometallurgical treatment (ET) variant, plutonium-rich residues are shipped to existing Argonne National Laboratory-West (ANL-W) facilities where the plutonium is converted to plutonium chloride, dissolved in a molten

  16. Per una teoria politica dell’impresa cooperativa

    National Research Council Canada - National Science Library

    Stefano Zan

    2014-01-01

    Il saggio propone una traccia di ricerca per l’elaborazione di una teoria politica della cooperazione, ovvero per la considerazione del fenomeno cooperativo come caratterizzato da una peculiare modalità...

  17. Preferential accumulation of severe variants of Citrus tristeza virus in plants co-inoculated with mild and severe variants.

    Science.gov (United States)

    Sambade, A; Ambrós, S; López, C; Ruiz-Ruiz, S; Hermoso de Mendoza, A; Flores, R; Guerri, J; Moreno, P

    2007-01-01

    The viral population in sweet orange plants, either healthy or pre-inoculated with the asymptomatic isolate of Citrus tristeza virus (CTV) T32, and then graft- or aphid-inoculated with the stem-pitting isolate T318, was characterized with respect to symptom expression, reaction with monoclonal antibody MCA13, single-strand conformation polymorphism (SSCP) of genes p18 and p20, bi-directional RT-PCR, and dot-blot hybridisation. All plants inoculated with T318, with or without pre-inoculation, showed stem pitting, reacted with MCA13, had the SSCP profile characteristic of this isolate, and in bi-directional RT-PCR yielded a 450-bp DNA product associated with severe isolates, indicating that T32 afforded no protection against T318. The latter isolate had two main sequence variants, the minor one of which was indistinguishable from the main T32 sequence, and both were detected in most plants that were graft-inoculated with T318. However, the T32 variant was not detected in plants that were aphid-inoculated only with T318 and also showed stem pitting. This suggested an association of symptoms with the major T318 sequence and preferential transmission of this variant by aphids. The T318-specific variant accumulated more than the T32 variant in plants in which both were replicating, suggesting a higher fitness of the former. Our results clearly emphasize the potential threat of severe CTV variants in areas where mild isolates are presently predominant.

  18. Perfil tecnologico de una empresa de alimentos

    National Research Council Canada - National Science Library

    De La Hoz Suarez, Aminta; De La Hoz Suarez, Betty; Flores Urbaez, Matilde

    2008-01-01

    ..., en la produccion de pasta larga. Esta investigacion fue de caracter exploratorio-descriptiva, enfocada en un estudio de caso y se utilizo como tecnica de recoleccion de datos en una entrevista estructurada aplicada a informantes...

  19. Obras y Hospitales. Una misma realidad

    Directory of Open Access Journals (Sweden)

    González González, Mario

    2005-02-01

    Full Text Available Hospitales y obras equivale a hablar de una misma realidad. Todos los hospitales conviven habitualmente en una mayor o menor medida con obras en sus instalaciones y éstas representan una parte más de las situaciones que requieren una adecuada gestión y manejo por parte de los gestores sanitarios y de todos los trabajadores implicados. A lo largo de las próximas reflexiones intentaremos abordar las principales problemáticas a las que nos enfrentamos con la presencia de obras en nuestros centros y nuestra visión sobre alternativas o planteamientos a realizar que permitan adecuar las dos partes de la cuestión, el funcionamiento del hospital y el respeto al cronograma de las obras.…

  20. 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.

  1. La cultura europea: hacia una nueva sensibilidad

    OpenAIRE

    Llano, A

    1990-01-01

    La revolución de mayo del 68 francés revela un cambio mucho más profundo que una simple revuelta. La demanda de una cultura nueva también pedía un cambio de sensibilidad, especialmente respecto a: el ecologismo, el feminismo, el pacifismo, el racionalismo. La nueva sensibilidad requerida pide también un nuevo humanismo.

  2. 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.

  3. Previous Experience a Model of Practice UNAE

    OpenAIRE

    Ruiz, Ormary Barberi; Pesántez Palacios, María Dolores

    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...

  4. de una interrupción?

    Directory of Open Access Journals (Sweden)

    Félix Manuel Burgos

    2007-01-01

    Full Text Available En este artículo se presenta una revisión del fenómeno de co-construcción, entendido como la realización de una unidad sintáctica a partir de la contribución de dos hablantes durante una conversación. Se analizan 81 casos tomados de varias conversaciones espontáneas en Cali, Colombia, donde participan once hablantes. A partir de diferentes explicaciones dadas en cuanto a las causas de este fenómeno, se proponen tres variables que buscan confirmar estas hipótesis sobre las muestras encontradas. Las variables corresponden a: 1 Una perspectiva de la interacción conversacional, donde se tienen en cuenta modelos cognitivos compartidos por los hablantes (Lerner, 1991. 2 Una aproximación sintáctica, donde se analizan las características gramaticales de los componentes (Ford y Thompson, 1996, y 3 Una mirada prosódica, que se centra en las unidades truncadas (Helasvuo, 2004. Se propone que las tesis planteadas frente a las causas de la aparición de co-construcciones sí tienen incidencia en los ejemplos estudiados. Sin embargo, se demuestra que, en general, estas unidades compartidas no son explicadas por una causa aislada, sino que se dan por factores múltiples, en los cuales se combina la sintaxis y la prosodia. Finalmente, se propone que lo que a primera vista podría ser considerado un hecho conflictivo de la conversación, una interrupción, constituye un acto de cooperación conversacional.

  5. Adenosquamous variant of metaplastic carcinoma of breast - an unusual histological variant.

    Science.gov (United States)

    Swathy, P U; Arunalatha, P; Chandramouleeswari, K; Lily, S Mary; Ramya, S

    2015-02-01

    Metaplastic carcinoma of breast refers to a heterogeneous group of neoplasms characterized by intimate admixture of adenocarcinoma with dominant areas of spindle cell, squamous cell and/ or mesenchymal differentiation. They constitute the rarest histological variant of invasive ductal carcinoma. These carcinomas have aggressive clinical behaviour and show suboptimal response to standard treatment. A 49-year-old female presented with lump in the left breast for one year. She was diagnosed as infiltrating ductal carcinoma breast with triple negative hormone status by trucut biopsy. She completed four cycles of neoadjuvant chemotherapy. Postchemotherapy, axillary nodes decreased in size but the size of the primary tumour remained the same. Hence, she underwent modified radical mastectomy and the specimen sent for histopathological examination. Grossly, there was a solitary cyst measuring 4x3cm. Histologically, cyst enclosing malignant cells which resemble mature squamous epithelial cells. Also, seen are malignant cells in glandular pattern.

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

    Science.gov (United States)

    Töpf, Ana; Griffin, Helen R; Glen, Elise; Soemedi, Rachel; Brown, Danielle L; Hall, Darroch; Rahman, Thahira J; Eloranta, Jyrki J; Jüngst, Christoph; Stuart, A Graham; O'Sullivan, John; Keavney, Bernard D; Goodship, Judith A

    2014-01-01

    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.

  7. Mendelian randomization analysis with multiple genetic variants using summarized data.

    Science.gov (United States)

    Burgess, Stephen; Butterworth, Adam; Thompson, Simon G

    2013-11-01

    Genome-wide association studies, which typically report regression coefficients summarizing the associations of many genetic variants with various traits, are potentially a powerful source of data for Mendelian randomization investigations. We demonstrate how such coefficients from multiple variants can be combined in a Mendelian randomization analysis to estimate the causal effect of a risk factor on an outcome. The bias and efficiency of estimates based on summarized data are compared to those based on individual-level data in simulation studies. We investigate the impact of gene-gene interactions, linkage disequilibrium, and 'weak instruments' on these estimates. Both an inverse-variance weighted average of variant-specific associations and a likelihood-based approach for summarized data give similar estimates and precision to the two-stage least squares method for individual-level data, even when there are gene-gene interactions. However, these summarized data methods overstate precision when variants are in linkage disequilibrium. If the P-value in a linear regression of the risk factor for each variant is less than 1×10⁻⁵, then weak instrument bias will be small. We use these methods to estimate the causal association of low-density lipoprotein cholesterol (LDL-C) on coronary artery disease using published data on five genetic variants. A 30% reduction in LDL-C is estimated to reduce coronary artery disease risk by 67% (95% CI: 54% to 76%). We conclude that Mendelian randomization investigations using summarized data from uncorrelated variants are similarly efficient to those using individual-level data, although the necessary assumptions cannot be so fully assessed. © 2013 WILEY PERIODICALS, INC.

  8. 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.

  9. Combined effects of thrombosis pathway gene variants predict cardiovascular events.

    Directory of Open Access Journals (Sweden)

    Kirsi Auro

    2007-07-01

    Full Text Available The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of different predisposing variants. We investigated the role of four thrombosis genes: coagulation factor V (F5, intercellular adhesion molecule 1 (ICAM1, protein C (PROC, and thrombomodulin (THBD in cardiovascular diseases. Single allelic gene variants and their pair-wise combinations were analyzed in two independently sampled population cohorts from Finland. From among 14,140 FINRISK participants (FINRISK-92, n = 5,999 and FINRISK-97, n = 8,141, we selected for genotyping a sample of 2,222, including 528 incident cardiovascular disease (CVD cases and random subcohorts totaling 786. To cover all known common haplotypes (>10%, 54 single nucleotide polymorphisms (SNPs were genotyped. Classification-tree analysis identified 11 SNPs that were further analyzed in Cox's proportional hazard model as single variants and pair-wise combinations. Multiple testing was controlled by use of two independent cohorts and with false-discovery rate. Several CVD risk variants were identified: In women, the combination of F5 rs7542281 x THBD rs1042580, together with three single F5 SNPs, was associated with CVD events. Among men, PROC rs1041296, when combined with either ICAM1 rs5030341 or F5 rs2269648, was associated with total mortality. As a single variant, PROC rs1401296, together with the F5 Leiden mutation, was associated with ischemic stroke events. Our strategy to combine the classification-tree analysis with more traditional genetic models was successful in identifying SNPs-acting either in combination or as single variants--predisposing to CVD, and produced consistent results in two independent cohorts. These results suggest that variants in these four thrombosis genes contribute to arterial cardiovascular events at population level.

  10. 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.

  11. Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

    Science.gov (United States)

    Töpf, Ana; Griffin, Helen R.; Glen, Elise; Soemedi, Rachel; Brown, Danielle L.; Hall, Darroch; Rahman, Thahira J.; Eloranta, Jyrki J.; Jüngst, Christoph; Stuart, A. Graham; O'Sullivan, John; Keavney, Bernard D.; Goodship, Judith A.

    2014-01-01

    Objective 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). Methods and Results 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. Significance 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. PMID:25093829

  12. 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

    2011-05-01

    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. This study had two components: a candidate gene study to evaluate variants in CYP2C8, UGT1A1, UGT1A3, and SLCO1B1; and a genome-wide association study to identify risk factors in other regions of the genome. A total of 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. 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 UGTs (P=0.523). An additional copy of the minor allele of SLCO1B1 rs4149056 (p.Val174Ala) was associated with the risk of rhabdomyolysis (odds ratio: 1.89; 95% confidence interval: 1.40-2.56). In transfected cells, this variant reduced cerivastatin transport by 40% compared with the reference transporter (P<0.001). The genome-wide association study identified an intronic variant (rs2819742) in the ryanodine receptor 2 gene (RYR2) as significant (P=1.74E-07). An additional copy of the minor allele of the RYR2 variant was associated with a reduced risk of rhabdomyolysis (odds ratio: 0.48; 95% confidence interval: 0.36-0.63). 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.

  13. Likelihood ratio tests in rare variant detection for continuous phenotypes.

    Science.gov (United States)

    Zeng, Ping; Zhao, Yang; Liu, Jin; Liu, Liya; Zhang, Liwei; Wang, Ting; Huang, Shuiping; Chen, Feng

    2014-09-01

    It is believed that rare variants play an important role in human phenotypes; however, the detection of rare variants is extremely challenging due to their very low minor allele frequency. In this paper, the likelihood ratio test (LRT) and restricted likelihood ratio test (ReLRT) are proposed to test the association of rare variants based on the linear mixed effects model, where a group of rare variants are treated as random effects. Like the sequence kernel association test (SKAT), a state-of-the-art method for rare variant detection, LRT and ReLRT can effectively overcome the problem of directionality of effect inherent in the burden test in practice. By taking full advantage of the spectral decomposition, exact finite sample null distributions for LRT and ReLRT are obtained by simulation. We perform extensive numerical studies to evaluate the performance of LRT and ReLRT, and compare to the burden test, SKAT and SKAT-O. The simulations have shown that LRT and ReLRT can correctly control the type I error, and the controls are robust to the weights chosen and the number of rare variants under study. LRT and ReLRT behave similarly to the burden test when all the causal rare variants share the same direction of effect, and outperform SKAT across various situations. When both positive and negative effects exist, LRT and ReLRT suffer from few power reductions compared to the other two competing methods; under this case, an additional finding from our simulations is that SKAT-O is no longer the optimal test, and its power is even lower than that of SKAT. The exome sequencing SNP data from Genetic Analysis Workshop 17 were employed to illustrate the proposed methods, and interesting results are described. © 2014 John Wiley & Sons Ltd/University College London.

  14. Melanocortin 1 receptor variants and skin cancer risk.

    Science.gov (United States)

    Han, Jiali; Kraft, Peter; Colditz, Graham A; Wong, Jason; Hunter, David J

    2006-10-15

    Melanocortin 1 receptor (MC1R) gene variants are associated with red hair and fair skin color. We assessed the associations of common MC1R genotypes with the risks of 3 types of skin cancer simultaneously in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) cases, and 873 controls). We found that the 151Cys, 160Trp and 294His variants were significantly associated with red hair, fair skin color and childhood tanning tendency. The MC1R variants, especially the 151Cys variant, were associated with increased risks of the 3 types of skin cancer, after controlling for hair color, skin color and other skin cancer risk factors. Carriers of the 151Cys variant had an OR of 1.65 (95% CI, 1.04-2.59) for melanoma, 1.67 (1.12-2.49) for SCC and 1.56 (1.03-2.34) for BCC. Women with medium or olive skin color carrying 1 nonred hair color allele and 1 red hair color allele had the highest risk of melanoma. A similar interaction pattern was observed for red hair and carrying at least 1 red hair color allele on melanoma risk. We also observed that the 151Cys variant contributed additional melanoma risk among red-haired women. The information on MC1R status modestly improved the risk prediction; the increase was significant for melanoma and BCC (p, 0.004 and 0.05, respectively). These findings indicated that the effects of the MC1R variants on skin cancer risk were independent from self-reported phenotypic pigmentation. Copyright 2006 Wiley-Liss, Inc.

  15. 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. 

  16. 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.

  17. 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.

  18. Evaluación de desempeño de los estimadores de desplazamiento de frecuencia de portadora en sistemas variantes en el tiempo

    Directory of Open Access Journals (Sweden)

    Luis Oswaldo Chávez Torres

    2015-11-01

    Full Text Available Una evaluación del desempeño de los algoritmos de estimación del desplazamiento de la frecuencia de portadora (CFO es presentado para sistemas OFDM bajo la suposición de variabilidad temporal del canal de comunicación. Típicamente, dichos algoritmos se basan en el propuesto por Timothy Schmidl y Donald Cox, el cual a partir de una secuencia entrenamiento y considerando invariabilidad del canal lleva a cabo la sincronización de trama y la estimación del CFO, aproximándose al límite inferior de Cramér-Rao. La evaluación del desempeño se llevó acabo considerando ambientes con diversas relaciones señal a ruido (SNR y diferentes frecuencias Doppler (FD. De los resultados obtenidos se ha podido corroborar que el error cuadrático medio de la estimación del CFO suponiendo una sincronización en tiempo perfecta, se incrementa a medida que el canal se vuelve más variante en el tiempo. Lo cual da pie a la búsqueda de nuevas técnicas de estimación y corrección del CFO para canales variantes en el tiempo.

  19. Occurrence of the Cys311 DRD2 variant in a pedigree multiply affected with panic disorder

    Energy Technology Data Exchange (ETDEWEB)

    Crawford, F.; Hoyne, J.; Diaz, P. [Univ. of South Florida, Tampa, FL (United States)] [and others

    1995-08-14

    Following the detection of the rare DRD2 codon 311 variant (Ser{yields}Cys) in an affected member from a large, multiply affected panic disorder family, we investigated the occurrence of this variant in other family members. The variant occurred in both affected and unaffected individuals. Further screening in panic disorder sib pairs unrelated to this family failed to detect the Cys311 variant. Our data suggests that this variant has no pathogenic role in panic disorder. 18 refs., 1 fig.

  20. SOBRE PSO (PARTICLE SWARM OPTIMIZATION: UNA IMPLEMENTACIÓN PARALELA Y DISTRIBUIDA

    Directory of Open Access Journals (Sweden)

    Luis Parraguez

    2015-07-01

    Full Text Available El algoritmo de Optimización por Enjambre de Partículas (PSO = Particle Swarm Optimization es una técnica estocástica basada en el movimiento e inteligencia de partículas, inspirado en el comportamiento social de poblaciones y es empleado para resolver problemas complejos de optimización. En este trabajo, se presenta el algoritmo PSO en una implementación paralela y distribuida, basada en dos paradigmas simples de particionado y comunicaciones, para emplear todos los recursos de cómputo que ofrece un arreglo de computadoras (múltiples nodos y núcleos bajo un mismo esquema de programación. Los resultados de la aplicación del algoritmo, sobre una función monomodal del conjunto de pruebas de caja negra (BBOB = Black-Box Optimization Benchmarking Problems, son comparados con los alcanzados por la versión serial del algoritmo, así como dos variantes paralelas clásicas.

  1. 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.

  2. Significati di una infrastruttura territoriale: gli aeroporti

    Directory of Open Access Journals (Sweden)

    Giuseppe Mazzeo

    2011-10-01

    Full Text Available L’articolo vuole esplorare i significati principali di una infrastruttura come l’aeroporto. Essa è una infrastruttura territoriale che aumenta l'accessibilità spaziale e il potenziale economico di un territorio; in questo senso, è una porta per incrementare gli scambi turistici e culturali. È anche una infrastruttura che porta con sé gli investimenti in altre aree della mobilità. A partire dagli anni Sessanta, inoltre, è diventato una icona e un luogo simbolico dove sperimentare nuove soluzioni architettoniche. Sono fattori limitativi la posizione, esterna alla città, e il tipo di servizio, fortemente settoriale. Gli aeroporti hanno un ruolo importante per lo spostamento delle persone. Le statistiche dei trasporti internazionali testimoniano che il numero di passeggeri è in crescita, anche se il settore ha subito i colpi della crisi economica internazionale. L'espansione del traffico aereo passeggeri è da mettere in relazione anche con la tendenza a specializzare la tipologia di viaggio.Il sistema di trasporto non è un sistema neutro, anche se settoriale; esso è legato fortemente con il sistema territoriale in cui opera e con le scelte di localizzazione delle imprese e degli individui. Questa riflessione ha valore per tutte le infrastrutture di trasporto, anche se con gradi diversi, ma per gli aeroporti assume un valore particolare, in quanto essi possono essere un fattore strategico nei processi di sviluppo economico di un territorio, contribuendo direttamente o indirettamente allo sviluppo delle imprese locali. Un aeroporto funziona sia come fornitore di servizi che come una realtà aziendale in sé ed opera in un mercato altamente competitivo con una elevata velocità di cambiamento.Gli aeroporti sono una infrastruttura territoriale tipicamente priva di integrazione fisica e spaziale con il contesto urbano. Per le loro caratteristiche dimensionali e per l'incidenza dei fattori inquinanti, devono essere collocati fuori della

  3. Charge variant analysis of proposed biosimilar to Trastuzumab.

    Science.gov (United States)

    Dakshinamurthy, Pravinkumar; Mukunda, Pavithra; Prasad Kodaganti, Bhargav; Shenoy, Bharath Ravindra; Natarajan, Bairavabalakumar; Maliwalave, Amol; Halan, Vivek; Murugesan, Sathyabalan; Maity, Sunit

    2017-03-01

    Trastuzumab is a humanized monoclonal antibody (mAb) employed for the treatment of HER2 Positive Breast Cancer. A HER2 overexpressing tumor cell binds to Trastuzumab and attracts immune cells which lead to induction of Antibody Dependent Cellular Cytotoxicity (ADCC) by binding to Fc receptors (CD16a or FcγRIIIa) on an effector cell, such as natural killer (NK) cells. The most commonly expressed receptor on NK cell is CD16a which binds to the Fc portion of Trastuzumab. The ligand-independent HER2-HER3 dimerization is the most potent stimulator of downstream pathways for regulation of cell growth and survival. An attempt has been made in this study to understand the impact of charge heterogeneity on the binding kinetics and potency of the monoclonal antibody. Trastuzumab has a pI range of 8.7-8.9 and is composed of mixture of acidic and basic variants beside the main peak. Ion exchange chromatography was used to isolate the acidic, basic, and main peak fractions from in-house proposed biosimilar to Trastuzumab and their activities were compared to the Innovator Trastuzumab Herclon(®). Data from the mass analysis confirmed the potential modifications in both acidic and basic variant. Binding activity studies performed using Surface Plasmon Resonance (SPR) revealed that acidic variants had lesser binding to HER2 in comparison to the basic variants. Both acidic and basic variant showed no significant changes in their binding to soluble CD16a receptors. In vitro assay studies using a breast cancer cell line (BT-474) confirmed the binding potency of acidic variant to be lesser than basic variant, along with reduced anti-proliferative activity for the acidic variant of Trastuzumab. Overall, these data has provided meaningful insights to the impact of antibody charge variants on in vitro potency and CD16 binding affinity of trastuzumab. Copyright © 2016 International Alliance for Biological Standardization. Published by Elsevier Ltd. All rights reserved.

  4. Connected speech production in three variants of primary progressive aphasia.

    Science.gov (United States)

    Wilson, Stephen M; Henry, Maya L; Besbris, Max; Ogar, Jennifer M; Dronkers, Nina F; Jarrold, William; Miller, Bruce L; Gorno-Tempini, Maria Luisa

    2010-07-01

    Primary progressive aphasia is a clinical syndrome defined by progressive deficits isolated to speech and/or language, and can be classified into non-fluent, semantic and logopenic variants based on motor speech, linguistic and cognitive features. The connected speech of patients with primary progressive aphasia has often been dichotomized simply as 'fluent' or 'non-fluent', however fluency is a multidimensional construct that encompasses features such as speech rate, phrase length, articulatory agility and syntactic structure, which are not always impacted in parallel. In this study, our first objective was to improve the characterization of connected speech production in each variant of primary progressive aphasia, by quantifying speech output along a number of motor speech and linguistic dimensions simultaneously. Secondly, we aimed to determine the neuroanatomical correlates of changes along these different dimensions. We recorded, transcribed and analysed speech samples for 50 patients with primary progressive aphasia, along with neurodegenerative and normal control groups. Patients were scanned with magnetic resonance imaging, and voxel-based morphometry was used to identify regions where atrophy correlated significantly with motor speech and linguistic features. Speech samples in patients with the non-fluent variant were characterized by slow rate, distortions, syntactic errors and reduced complexity. In contrast, patients with the semantic variant exhibited normal rate and very few speech or syntactic errors, but showed increased proportions of closed class words, pronouns and verbs, and higher frequency nouns, reflecting lexical retrieval deficits. In patients with the logopenic variant, speech rate (a common proxy for fluency) was intermediate between the other two variants, but distortions and syntactic errors were less common than in the non-fluent variant, while lexical access was less impaired than in the semantic variant. Reduced speech rate was

  5. 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.

  6. Unclassified sequence variants (UVS and genetic predisposition to cancer

    Directory of Open Access Journals (Sweden)

    Yves-Jean Bignon

    2011-06-01

    Full Text Available Hereditary breast and ovarian cancers are mainly attributable to predisposition genes whose germinal mutations are responsible for the disease. The most common genes associated with breast/ovarian cancer are BRCA1 and BRCA2 but at least 20 other genes of medium of high penetrance have been associated with these types of cancer. Lifetime risk of breast cancer for BRCA mutations carriers approaches 90%. Appropriate medical follow-up is therefore essential for women carrying mutations in these genes. BRCA mutational spectrum has not been entirely characterized but not all sequence variants are pathogenic. These are classified as benign polymorphisms or unclassified variants (UV with unknown pathological potential. To date, 43,5% of over 3500 genetic variants BRCA1 and BRCA2 are reported as having uncertain clinical significance. Whether one sequence variant has or not a pathogenicity implication is often a hard decision to take, involving important consequences for diagnosis and medical follow-up. Here we present several cases of unclassified sequence variants detection and interpretation by in-silico analysis.

  7. 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.

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

    Science.gov (United States)

    Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei; King, Robert A; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J; Mandell, Jeffrey D; Huang, Alden Y; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E; Neale, Benjamin M; Coppola, Giovanni; Mathews, Carol A; Tischfield, Jay A; Scharf, Jeremiah M; State, Matthew W; Heiman, Gary A

    2017-05-03

    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 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. European multiple sclerosis risk variants in the south Asian population.

    Science.gov (United States)

    Pandit, Lekha; Ban, Maria; Beecham, Ashley Harris; McCauley, Jacob L; Sawcer, Stephen; D'Cunha, Anitha; Malli, Chaitra; Malik, Omar

    2016-10-01

    In less than a decade, genomewide association studies have identified over 100 single-nucleotide variants that are associated with increased risk of developing multiple sclerosis. However, since these studies have focused almost exclusively on European populations, it is unclear what role these variants might play in determining risk in other ethnic groups. To assess the effects of European multiple sclerosis-associated risk variants in the south Asian population. Using a combination of chip-based genotyping and next-generation sequencing, we have assessed 109 European-associated variants in a total of 270 cases and 555 controls from the south Asian population. We found that two-thirds of the tested variants (72/109) showed over representation of the European risk allele in south Asian cases (p TNFSF13B, the gene for the B-cell-related protein BAFF. Our data indicate substantial overlap in genetic risk architecture between Europeans and south Asians and suggest that the aetiology of the disease may be largely independent of ethnicity. © The Author(s), 2016.

  10. [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.

  11. 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

  12. [Genetic variants associated to male infertility in Mexican patients].

    Science.gov (United States)

    Piña-Aguilar, Raúl Eduardo; Chima-Galán, María del Carmen; Yerena-de-vega, María de la Concepción A; Regalado-Hernández, Miguel Angel; Sánchez-Guerrero, Cecilia; García-Ortiz, Liliana; Santillán-Hernández, Yuritzi; Moreno-García, Jesús Daniel

    2013-05-01

    Recently Mexican Federation of Obstetrics and Gynecology Colleges (Federación Mexicana de Colegios de Obstetricia y Ginecologia, FEMECOG) published the Mexican guideline forthe management of male infertility, which suggests performing genetic laboratory tests as part of diagnosis and management of infertile patients and states that these should receive genetic counseling. This paper reviews the genetic approach proposed by Mexican guideline. A systematic review of medical literature was performed in Pubmed and Web of Knowledge from 1980 to 2012 in order to find reports of genetic variants associated to male infertility in Mexican patients. Also it is discussed the current knowledge of these variants, their clinical implications and finally the guidelines and recommendations for their molecular diagnosis. Most genetic variants in Mexican infertile patients are chromosome abnormalities. In relation to other variants there is only a report of Y chromosome microdeletions, repeated CAG in androgen receptor and more common mutations in CFTR, and other article reporting mutations in CFTR in patients with congenital absence of vas deferens. Little is known about the genetics of Mexican infertile patients apart from chromosome abnormalities. However, the contribution of genetics as etiology of male infertility is taking more relevance and currently the consensual management of infertile male should include the screening of genetic background. This review pretends to be a quick guide for clinicians who want to know about reports of genetic variants related to male infertility in Mexican population and how to approach their diagnosis.

  13. Calretinin Variant in Hirschsprung Disease: Pretransitional Sign and Surgical Planning.

    Science.gov (United States)

    Muller, Cecile Olivia; Hobeika, Christian; Montalva, Louise; Berrebi, Dominique; Bonnard, Arnaud

    2016-10-01

    Objectives Calretinin immunohistochemistry (IHC) with slight submucosal positivity (variant) has been reported in short forms of Hirschsprung disease (HD). The first aim of our study was to confirm this variant being a pretransitional sign. The second was to evaluate if its presence on suction rectal biopsy was reliable enough for surgical planning. Methods We performed a monocentric retrospective study of all rectosigmoid HD between 2009 and 2014. Suction rectal biopsy defined two groups of calretinin results: P- group with no staining and P+ group with slight positivity. P- group final resection specimen was retrospectively reanalyzed looking for the variant to appear within the aganglionic bowel. P+ group surgical management was analyzed in terms of initial symptoms, radiological results, type of surgery and outcome, before and after formal identification of the variant by our pathologists (2011). Results Overall, 54 patients with rectosigmoid HD were included from 2009 to 2014. In the P- group (48.2%), the variant pattern finally appeared on all surgical resection specimens, 1 cm before the transitional zone (minimum-maximum: 0-5 cm). In the P+ group, 46% of these patients had peroperative biopsies before the transanal pull through before 2011 against 10% after 2011, with 100% of ganglionic coloanal anastomosis and similar outcome. Conclusion We confirmed our hypothesis of this varied pattern of calretinin being a pretransitional sign only visible on rectal suction biopsies in short segment HD and reliable enough to plan direct transanal pull through. Georg Thieme Verlag KG Stuttgart · New York.

  14. 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.

  15. dbVar structural variant cluster set for data analysis and variant comparison [version 2; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Lon Phan

    2017-02-01

    Full Text Available dbVar houses over 3 million submitted structural variants (SSV from 120 human studies including copy number variations (CNV, insertions, deletions, inversions, translocations, and complex chromosomal rearrangements. Users can submit multiple SSVs to dbVAR  that are presumably identical, but were ascertained by different platforms and samples,  to calculate whether the variant is rare or common in the population and allow for cross validation. However, because SSV genomic location reporting can vary – including fuzzy locations where the start and/or end points are not precisely known – analysis, comparison, annotation, and reporting of SSVs across studies can be difficult. This project was initiated by the Structural Variant Comparison Group for the purpose of generating a non-redundant set of genomic regions defined by counts of concordance for all human SSVs placed on RefSeq assembly GRCh38 (RefSeq accession GCF_000001405.26. We intend that the availability of these regions, called structural variant clusters (SVCs, will facilitate the analysis, annotation, and exchange of SV data and allow for simplified display in genomic sequence viewers for improved variant interpretation. Sets of SVCs were generated by variant type for each of the 120 studies as well as for a combined set across all studies. Starting from 3.64 million SSVs, 2.5 million and 3.4 million non-redundant SVCs with count >=1 were generated by variant type for each study and across all studies, respectively. In addition, we have developed utilities for annotating, searching, and filtering SVC data in GVF format for computing summary statistics, exporting data for genomic viewers, and annotating the SVC using external data sources.

  16. Caracterización molecular y prevalencia de las variantes genéticas en BRCA1/2 en el síndrome de cáncer de mama y ovario hereditario en la Región

    OpenAIRE

    Gabaldó Barrios, Xavier

    2014-01-01

    PALABRAS CLAVE: BRCA1, BRCA2, BRCAX, Síndrome de Cáncer de Mama y Ovario Hereditario, variante patogénica, variante de significado clínico desconocido, variante de efecto fundador. RESUMEN: El cáncer de mama es la principal causa de mortalidad por cáncer en las mujeres en todo el mundo, con una estimación de 1,68 millones de nuevos casos y más de 521.000 muertes sólo en 2012. Las mujeres con una historia familiar de cáncer de mama tienen de 1,5 a 3,9 veces más probabilidades de desarrolla...

  17. Propiedades electrofisiológicas de las variantes normales de actividad alfa en el continuo vigilia-sueño

    Directory of Open Access Journals (Sweden)

    José Luis Cantero

    2001-01-01

    Full Text Available El estudio de los ritmos cerebrales puede ser abordado mediante el análisis de sus propiedades electrofisiológicas usando técnicas de EEG cuantitativo. En aquellos casos donde una misma actividad aparece espontáneamente en diferentes estados de activación cerebral, el estudio de estas propiedades ayudaría a establecer diferencias funcionales asociadas a cada uno de estos estados. El presente trabajo revisa aquellos estudios que han determinado las propiedades electrofisiológicas de las diferentes variantes normales de alfa que aparecen en el continuo vigilia-sueño, más concretamente en vigilia relajada, somnolencia y durante la fase REM del sueño. Los resultados indican que cada variante normal de alfa, aun mostrando una distribución topográfica similar en cada uno de los estados cerebrales, presenta características diferenciales atendiendo a su composición espectral, relaciones funcionales entre regiones corticales, y micro-estados cerebrales subyacentes. De acuerdo con estos hallazgos, cada variante de alfa desempeñaría diferentes funciones cerebrales. El ritmo alfa de vigilia parece ser el resultado de una máxima sincronización neuronal como consecuencia de la ausencia de procesamiento sensorial, mientras que la presencia de actividad alfa durante la somnolencia estaría más asociada al procesamiento de las imágenes hipnagógicas que ocurren al comienzo del sueño. Los brotes de alfa de REM, sin embargo, constituirían un punto de contacto entre el cerebro dormido y el ambiente externo. Esta caracterización electrofisiológica encuentra su campo de aplicación más directo en el diseño de algoritmos para clasificar el sueño de forma automática, así como en el diagnóstico y evaluación de determinadas patologías donde pudieran verse afectados los mecanismos cerebrales de generación de esta actividad a lo largo del continuo vigilia-sueño.

  18. Stefania Gallini, Una historia ambiental del café en Guatemala. La Costa Cuca entre 1830 y 1902

    OpenAIRE

    Palma Murga, Gustavo

    2012-01-01

    Este libro se inscribe en la línea de investigaciones que se han venido realizandodesde hace algunos años sobre el período histórico en el que se identifican los oríge-nes del llamado Estado moderno en Guatemala. Orígenes vinculados con la denomi-nada “reforma liberal” de finales del siglo XIX. La diversidad de resultados que esasinvestigaciones han ofrecido ha permitido avanzar en una mejor comprensión sobrela génesis del modelo económico, político y social que, con algunas pocas variantes,a...

  19. 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

  20. Fine-mapping CASP8 risk variants in breast cancer.

    Science.gov (United States)

    Camp, Nicola J; Parry, Marina; Knight, Stacey; Abo, Ryan; Elliott, Graeme; Rigas, Sushilaben H; Balasubramanian, Sabapathy P; Reed, Malcolm W R; McBurney, Helen; Latif, Ayse; Newman, William G; Cannon-Albright, Lisa A; Evans, D Gareth; Cox, Angela

    2012-01-01

    Multiple genome-wide and candidate gene association studies have been conducted in search of common risk variants for breast cancer. Recent large meta analyses, consolidating evidence from these studies, have been consistent in highlighting the caspase-8 (CASP8) gene as important in this regard. To define a risk haplotype and map the CASP8 gene region with respect to underlying susceptibility variant/s, we screened four genes in the CASP8 region on 2q33-q34 for breast cancer risk. Two independent data sets from the United Kingdom and the United States, including 3,888 breast cancer cases and controls, were genotyped for 45 tagging single nucleotide polymorphisms (tSNP) in the expanded CASP8 region. SNP and haplotype association tests were carried out using Monte Carlo-based methods. We identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P breast carcinogenesis.

  1. A hierarchical particle swarm optimizer and its adaptive variant.

    Science.gov (United States)

    Janson, Stefan; Middendorf, Martin

    2005-12-01

    A hierarchical version of the particle swarm optimization (PSO) metaheuristic is introduced in this paper. In the new method called H-PSO, the particles are arranged in a dynamic hierarchy that is used to define a neighborhood structure. Depending on the quality of their so-far best-found solution, the particles move up or down the hierarchy. This gives good particles that move up in the hierarchy a larger influence on the swarm. We introduce a variant of H-PSO, in which the shape of the hierarchy is dynamically adapted during the execution of the algorithm. Another variant is to assign different behavior to the individual particles with respect to their level in the hierarchy. H-PSO and its variants are tested on a commonly used set of optimization functions and are compared to PSO using different standard neighborhood schemes.

  2. Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

    Science.gov (United States)

    Starita, Lea M; Young, David L; Islam, Muhtadi; Kitzman, Jacob O; Gullingsrud, Justin; Hause, Ronald J; Fowler, Douglas M; Parvin, Jeffrey D; Shendure, Jay; Fields, Stanley

    2015-06-01

    Interpreting variants of uncertain significance (VUS) is a central challenge in medical genetics. One approach is to experimentally measure the functional consequences of VUS, but to date this approach has been post hoc and low throughput. Here we use massively parallel assays to measure the effects of nearly 2000 missense substitutions in the RING domain of BRCA1 on its E3 ubiquitin ligase activity and its binding to the BARD1 RING domain. From the resulting scores, we generate a model to predict the capacities of full-length BRCA1 variants to support homology-directed DNA repair, the essential role of BRCA1 in tumor suppression, and show that it outperforms widely used biological-effect prediction algorithms. We envision that massively parallel functional assays may facilitate the prospective interpretation of variants observed in clinical sequencing. Copyright © 2015 by the Genetics Society of America.

  3. 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.

  4. Retinal vascular nonperfusion in siblings with Dandy-Walker variant.

    Science.gov (United States)

    Rusu, Irene; Gupta, Mrinali Patel; Patel, Samir N; Oltra, Erica; Chan, R V Paul

    2016-04-01

    We report the case of a 2-month-old girl with Dandy-Walker variant who presented with strabismus, pathologic myopia measuring -16.00 D in each eye, diffuse chorioretinal atrophy and pigment mottling in the macula of both eyes, and areas of retinal capillary nonperfusion in both eyes. The patient's brother also has Dandy-Walker variant and was found to have bilateral severe myopia, myopic fundi, tilted optic disks with peripapillary atrophy, extensive areas of white without pressure, areas of lattice degeneration, and several chronic-appearing atrophic retinal holes surrounded by pigmentation. We hypothesize that children with Dandy-Walker variant may present with refractive errors such as pathologic myopia and with diverse retinal findings, including retinal ischemia. A lower threshold for ophthalmologic examination may be considered in this population. Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

  5. Splice variants of porcine PPHLN1 encoding periphilin-1

    DEFF Research Database (Denmark)

    Larsen, Knud Erik; Momeni, Jamal; Farajzadeh, Leila

    2017-01-01

    of the periphilin-1 protein. Thus, variants Sp1 and Sp1 are the result of alternative splicing. The porcine PPHLN1 gene was mapped to chromosome 5. The porcine PPHLN1 gene was found to be differentially expressed in various porcine organs and tissues. The sequence of the porcine PPHLN1 cDNA, encoding the periphilin......The periphilin-1 protein is encoded by the PPHLN1 gene. Periphilin-1 is found in the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layer of epidermis. In the current study we report on the cloning and characterization of the porcine PPHLN1 cDNA and two...... splice variants hereof. RT-PCR cloning using oligonucleotide primers derived from in silico sequences resulted in three PPHLN1 transcripts: a full-length mRNA and two transcript variant resulting in shorter proteins. The longest encoded periphilin-1, consisting of 373 amino acids, displays a high...

  6. 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.

  7. Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans.

    Directory of Open Access Journals (Sweden)

    Jac M M J G Aarts

    Full Text Available Studies of the defence capacity of ancient hominins against toxic substances may contribute importantly to the reconstruction of their niche, including their diets and use of fire. Fire usage implies frequent exposure to hazardous compounds from smoke and heated food, known to affect general health and fertility, probably resulting in genetic selection for improved detoxification. To investigate whether such genetic selection occurred, we investigated the alleles in Neanderthals, Denisovans and modern humans at gene polymorphisms well-known to be relevant from modern human epidemiological studies of habitual tobacco smoke exposure and mechanistic evidence. We compared these with the alleles in chimpanzees and gorillas. Neanderthal and Denisovan hominins predominantly possess gene variants conferring increased resistance to these toxic compounds. Surprisingly, we observed the same in chimpanzees and gorillas, implying that less efficient variants are derived and mainly evolved in modern humans. Less efficient variants are observable from the first early Upper Palaeolithic hunter-gatherers onwards. While not clarifying the deep history of fire use, our results highlight the long-term stability of the genes under consideration despite major changes in the hominin dietary niche. Specifically for detoxification gene variants characterised as deleterious by epidemiological studies, our results confirm the predominantly recent appearance reported for deleterious human gene variants, suggesting substantial impact of recent human population history, including pre-Holocene expansions.

  8. Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans

    Science.gov (United States)

    Alink, Gerrit M.; Scherjon, Fulco; MacDonald, Katharine; Smith, Alison C.; Nijveen, Harm; Roebroeks, Wil

    2016-01-01

    Studies of the defence capacity of ancient hominins against toxic substances may contribute importantly to the reconstruction of their niche, including their diets and use of fire. Fire usage implies frequent exposure to hazardous compounds from smoke and heated food, known to affect general health and fertility, probably resulting in genetic selection for improved detoxification. To investigate whether such genetic selection occurred, we investigated the alleles in Neanderthals, Denisovans and modern humans at gene polymorphisms well-known to be relevant from modern human epidemiological studies of habitual tobacco smoke exposure and mechanistic evidence. We compared these with the alleles in chimpanzees and gorillas. Neanderthal and Denisovan hominins predominantly possess gene variants conferring increased resistance to these toxic compounds. Surprisingly, we observed the same in chimpanzees and gorillas, implying that less efficient variants are derived and mainly evolved in modern humans. Less efficient variants are observable from the first early Upper Palaeolithic hunter-gatherers onwards. While not clarifying the deep history of fire use, our results highlight the long-term stability of the genes under consideration despite major changes in the hominin dietary niche. Specifically for detoxification gene variants characterised as deleterious by epidemiological studies, our results confirm the predominantly recent appearance reported for deleterious human gene variants, suggesting substantial impact of recent human population history, including pre-Holocene expansions. PMID:27655273

  9. Impact of MYH6 variants in hypoplastic left heart syndrome

    Science.gov (United States)

    Stamm, Karl D.; Mahnke, Donna K.; Kim, Min-Su; Hidestrand, Pip M.; Liang, Huan Ling; Goetsch, Mary A.; Hidestrand, Mats; Simpson, Pippa; Pelech, Andrew N.; Tweddell, James S.; Benson, D. Woodrow; Lough, John W.; Mitchell, Michael E.

    2016-01-01

    Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown. The goal of this study was to characterize a risk gene in HLHS and its effect on HLHS etiology and outcome. We performed next-generation sequencing on a multigenerational family with a high prevalence of CHD/HLHS, identifying a rare variant in the α-myosin heavy chain (MYH6) gene. A case-control study of 190 unrelated HLHS subjects was then performed and compared with the 1000 Genomes Project. Damaging MYH6 variants, including novel, missense, in-frame deletion, premature stop, de novo, and compound heterozygous variants, were significantly enriched in HLHS cases (P < 1 × 10−5). Clinical outcomes analysis showed reduced transplant-free survival in HLHS subjects with damaging MYH6 variants (P < 1 × 10−2). Transcriptome and protein expression analyses with cardiac tissue revealed differential expression of cardiac contractility genes, notably upregulation of the β-myosin heavy chain (MYH7) gene in subjects with MYH6 variants (P < 1 × 10−3). We subsequently used patient-specific induced pluripotent stem cells (iPSCs) to model HLHS in vitro. Early stages of in vitro cardiomyogenesis in iPSCs derived from two unrelated HLHS families mimicked the increased expression of MYH7 observed in vivo (P < 1 × 10−2), while revealing defective cardiomyogenic differentiation. Rare, damaging variants in MYH6 are enriched in HLHS, affect molecular expression of contractility genes, and are predictive of poor outcome. These findings indicate that the etiology of MYH6-associated HLHS can be informed using iPSCs and suggest utility in future clinical applications. PMID:27789736

  10. 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

  11. 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.

  12. ¿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.

  13. 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.

  14. BreakPoint Surveyor: a pipeline for structural variant visualization.

    Science.gov (United States)

    Wyczalkowski, Matthew A; Wylie, Kristine M; Cao, Song; McLellan, Michael D; Flynn, Jennifer; Huang, Mo; Ye, Kai; Fan, Xian; Chen, Ken; Wendl, Michael C; Ding, Li

    2017-10-01

    BreakPoint Surveyor (BPS) is a computational pipeline for the discovery, characterization, and visualization of complex genomic rearrangements, such as viral genome integration, in paired-end sequence data. BPS facilitates interpretation of structural variants by merging structural variant breakpoint predictions, gene exon structure, read depth, and RNA-sequencing expression into a single comprehensive figure. Source code and sample data freely available for download at https://github.com/ding-lab/BreakPointSurveyor, distributed under the GNU GPLv3 license, implemented in R, Python and BASH scripts, and supported on Unix/Linux/OS X operating systems. lding@wustl.edu. Supplementary data are available at Bioinformatics online.

  15. Coding variants in TREM2 increase risk for Alzheimer's disease.

    Science.gov (United States)

    Jin, Sheng Chih; Benitez, Bruno A; Karch, Celeste M; Cooper, Breanna; Skorupa, Tara; Carrell, David; Norton, Joanne B; Hsu, Simon; Harari, Oscar; Cai, Yefei; Bertelsen, Sarah; Goate, Alison M; Cruchaga, Carlos

    2014-11-01

    The triggering receptor expressed on myeloid 2 (TREM2) is an immune phagocytic receptor expressed on brain microglia known to trigger phagocytosis and regulate the inflammatory response. Homozygous mutations in TREM2 cause Nasu-Hakola disease, a rare recessive form of dementia. A heterozygous TREM2 variant, p.R47H, was recently shown to increase Alzheimer''s disease (AD) risk. We hypothesized that if TREM2 is truly an AD risk gene, there would be additional rare variants in TREM2 that substantially affect AD risk. To test this hypothesis, we performed pooled sequencing of TREM2 coding regions in 2082 AD cases and 1648 cognitively normal elderly controls of European American descent. We identified 16 non-synonymous variants, six of which were not identified in previous AD studies. Two variants, p.R47H [P = 9.17 × 10(-4), odds ratio (OR) = 2.63 (1.44-4.81)] and p.R62H [P = 2.36 × 10(-4), OR = 2.36 (1.47-3.80)] were significantly associated with disease risk in single-variant analyses. Gene-based tests demonstrate variants in TREM2 are genome-wide significantly associated with AD [PSKAT-O = 5.37 × 10(-7); OR = 2.55 (1.80-3.67)]. The association of TREM2 variants with AD is still highly significant after excluding p.R47H [PSKAT-O = 7.72 × 10(-5); OR = 2.47 (1.62-3.87)], indicating that additional TREM2 variants affect AD risk. Genotyping in available family members of probands suggested that p.R47H (P = 4.65 × 10(-2)) and p.R62H (P = 6.87 × 10(-3)) were more frequently seen in AD cases versus controls within these families. Gel electrophoresis analysis confirms that at least three TREM2 transcripts are expressed in human brains, including one encoding a soluble form of TREM2. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Schizophrenia genetic variants are not associated with intelligence

    DEFF Research Database (Denmark)

    Van Scheltinga, A.F.T.; Bakker, S.C.; Van Haren, N.E.M.

    2013-01-01

    BACKGROUND: Schizophrenia is associated with lower pre-morbid intelligence (IQ) in addition to (pre-morbid) cognitive decline. Both schizophrenia and IQ are highly heritable traits. Therefore, we hypothesized that genetic variants associated with schizophrenia, including copy number variants (CNVs......) and a polygenic schizophrenia (risk) score (PSS), may influence intelligence. Method IQ was estimated with the Wechsler Adult Intelligence Scale (WAIS). CNVs were determined from single nucleotide polymorphism (SNP) data using the QuantiSNP and PennCNV algorithms. For the PSS, odds ratios for genome-wide SNP data...

  17. 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.

  18. Estabilidad de dos variantes genotípicas del nucleopoliedrovirus de Spodoptera frugiperda a través de ciclos sucesivos de infección en larva

    OpenAIRE

    Malagón Rodríguez, Astrid Lucero

    2014-01-01

    El nucleopoliedrovirus de Spodoptera frugiperda (SfMNPV) se caracteriza por presentar una mezcla de diferentes genotipos con actividad insecticida variable. Estas diferencias pueden ser utilizadas como estrategia para la búsqueda de genotipos puros o mezclas de los mismos, cuya actividad insecticida sea óptima para el desarrollo de un bioplaguicida, para el control del gusano cogollero del maíz. En el presente trabajo se aislaron dos variantes genotípicas mediante clonación in vitro a partir ...

  19. 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...

  20. Tonos estrellados: una argumentación

    OpenAIRE

    Toledo, Guillermo Andrés

    2006-01-01

    En este trabajo se analiza la alineación tonal en acentos prenucleares y nucleares en discursos de español peninsular madrileño. Se propone una secuencia integrada por la sílaba pretónica, la sílaba acentuada y la sílaba postónica y una interfaz entre el componente fonético y el componente fonológico basada en umbrales perceptivos, que permite una taxonomía tonal que refleja la representación mental de los tonos. Se observa la actualización del tono dentro de la sílaba acentuada. Estos result...

  1. IDENTIDAD NACIONAL UNA APROXIMACIÓN COGNITIVA

    Directory of Open Access Journals (Sweden)

    Olga Lucía Hoyos de los Ríos

    2001-01-01

    Full Text Available En este momento histórico que afronta el mundo con el proceso de homogeneización, el tema de la identidad nacional adquiere una gran importancia. Desde el punto de vista de la Psicología, este concepto es abordado desde una perspectiva cognitivo-evolutiva y social, que surge a partir de un análisis de los resultados de trabajos de investigación desarrollados en Europa y Latinoamérica. El propósito es presentar una aproximación a la comprensión del proceso de construcción de la identidad nacional, como un hecho cognitivo y emocional, que se forma en interacción con un contexto y mundo social.

  2. 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.

  3. Carcinoma papilar tiroideo variante esclerosante difuso Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma

    OpenAIRE

    JL D'Addino; MM Pigni; D Siguelboim; H Niepomniszcze

    2012-01-01

    Objetivo: Presentar un carcinoma inusual de tiroides y de difícil diagnóstico, su manejo y evolución. Caso clínico: Paciente de raza blanca de 37 años, desde hace 6 meses presentaba formación laterocervical derecha asintomática y ecografía con nódulo tiroideo sobre tiroides heterogénea. Sin antecedentes personales ni familiares de importancia. La punción de una adenopatía regional resultó adenocarcinoma y la del nódulo tiroideo: quiste coloide. Se intervino quirúrgicamente efectuándose un vac...

  4. 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.

  5. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

    Science.gov (United States)

    Walker, Logan C; Marquart, Louise; Pearson, John F; Wiggins, George A R; O'Mara, Tracy A; Parsons, Michael T; Barrowdale, Daniel; McGuffog, Lesley; Dennis, Joe; Benitez, Javier; Slavin, Thomas P; Radice, Paolo; Frost, Debra; Godwin, Andrew K; Meindl, Alfons; Schmutzler, Rita Katharina; Isaacs, Claudine; Peshkin, Beth N; Caldes, Trinidad; Hogervorst, Frans Bl; Lazaro, Conxi; Jakubowska, Anna; Montagna, Marco; Chen, Xiaoqing; Offit, Kenneth; Hulick, Peter J; Andrulis, Irene L; Lindblom, Annika; Nussbaum, Robert L; Nathanson, Katherine L; Chenevix-Trench, Georgia; Antoniou, Antonis C; Couch, Fergus J; Spurdle, Amanda B

    2017-04-01

    Genome-wide studies of patients carrying pathogenic variants (mutations) in BRCA1 or BRCA2 have reported strong associations between single-nucleotide polymorphisms (SNPs) and cancer risk. To conduct the first genome-wide association analysis of copy-number variants (CNVs) with breast or ovarian cancer risk in a cohort of 2500 BRCA1 pathogenic variant carriers, CNV discovery was performed using multiple calling algorithms and Illumina 610k SNP array data from a previously published genome-wide association study. Our analysis, which focused on functionally disruptive genomic deletions overlapping gene regions, identified a number of loci associated with risk of breast or ovarian cancer for BRCA1 pathogenic variant carriers. Despite only including putative deletions called by at least two or more algorithms, detection of selected CNVs by ancillary molecular technologies only confirmed 40% of predicted common (>1% allele frequency) variants. These include four loci that were associated (unadjusted P<0.05) with breast cancer (GTF2H2, ZNF385B, NAALADL2 and PSG5), and two loci associated with ovarian cancer (CYP2A7 and OR2A1). An interesting finding from this study was an association of a validated CNV deletion at the CYP2A7 locus (19q13.2) with decreased ovarian cancer risk (relative risk=0.50, P=0.007). Genomic analysis found this deletion coincides with a region displaying strong regulatory potential in ovarian tissue, but not in breast epithelial cells. This study highlighted the need to verify CNVs in vitro, but also provides evidence that experimentally validated CNVs (with plausible biological consequences) can modify risk of breast or ovarian cancer in BRCA1 pathogenic variant carriers.

  6. 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?

  7. Diversidad sexual y convivencia: Una oportunidad educativa.

    OpenAIRE

    Pichardo Galán, José Ignacio; Matías DE STÉFANO BARBERO; Sánchez Sainz, Mercedes; Puche Cabezas, Luis; Molinuevo Puras, Belén; Moreno Cabrera, Octavio

    2015-01-01

    Esta monografía sobre diversidad sexual como una oportunidad educativa, basada en el trabajo de campo llevado a cabo en centros escolares de infantil, primaria y secundaria durante los primeros meses del año 2013, da cuenta de los cambios experimentados casi una década después de la aprobación de las leyes que promueven la igualdad legal del colectivo LGBT en España (matrimonio igualitario y ley de identidad de género). La investigación aborda algunas cuestiones que no habían sido tenidas en ...

  8. 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.

  9. Una aplicación del darwinismo

    OpenAIRE

    Unamuno, Miguel de, 1864-1936

    2010-01-01

    1 dibujo sobre papel; 204 x 131. Tinta y lápiz negro. Papel. - Anv: Una aplicación del darwinismo. La transformación del flamenco. Rev: perfil de hombre con barba y perfil de hombre y mono. - Hay una dirección anotada por Miguel de Unamuno. Este dibujo ha sido reproducido en: CONGRESO INTERNACIONAL MIGUEL DE UNAMUNO: Dibujos de Miguel de Unamuno. Salamanca, 1998. La tienda de la Universidad de Salamanca ha reproducido y comercializado en t - Buena conservación.

  10. Daniel Mato: una vida de interculturalidad

    Directory of Open Access Journals (Sweden)

    Alejandro Maldonado Fermín

    2011-04-01

    Full Text Available El presente artículo es una biografía intelectual necesariamente incompleta de uno de los autores latinoamericanos contemporáneos más emblemáticos y polémicos en el campo de los estudios sobre cultura, política y comunicación: Daniel Mato. Mediante el recorrido por algunos momentos clave de su vida y la manera como éstos guardan relación con sus obras, se ofrece una panorámica de este intelectual-activista, como forma de homenajear su trayectoria intelectual.

  11. Costa Rica 1986. Una democracia amenazada

    OpenAIRE

    Manuel Rojas Bolaños

    2015-01-01

    La revista se centra en el rol que desempeñan los medios en las campañas electorales,se publica la función política de éstos en Escandinavia,(1983)La campaña electoral en una transición política en Argentina, (1986)Una democracia amenazada en Costa Rica, (1985) Rescate de la memoria colectiva desde el Perú, (1983) Impacto de la crisis económica en Venezuela,(1986) Impresiones del periodismo político en Austria, (1984)Propaganda electoral en la prensa de Quito, (1984) Estados Unidos. Estrategi...

  12. 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.

  13. UNA TEORÍA SUREÑA

    Directory of Open Access Journals (Sweden)

    Robert William Connell

    2004-01-01

    Full Text Available Este artículo es un intento de comprensión de la situación pasada y presente de la sociología en relación con la sociedad global. Propone una estrategia para el desarrollo de la sociología como una ciencia democrática en la era de la globalización corporativa, resaltando la importancia de las perspectivas producidas más allá de la metrópolis.

  14. Hacia una sociedad incluyente de la discapacidad

    Directory of Open Access Journals (Sweden)

    Hugo Romano Torres

    2017-01-01

    Full Text Available La discapacidad es una condición biológica y social que se distingue por la presencia de limitaciones funcionales de una persona en contraste con la actividad “normal” de otros individuos. En este artículo se revisa el concepto de discapacidad y los términos de inclusión-exclusión a fin de reflexionar sobre la situación del discapacitado en un mundo por tradición excluyente.

  15. Aprender a innovar: una experiencia on line

    OpenAIRE

    Joaquín MORENO MARCHAL

    2014-01-01

    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 educa...

  16. HACIA UNA DIDÁCTICA METACOGNITIVA

    OpenAIRE

    Inga Arias, Miguel Gerardo; Universidad Nacional Mayor de San Marcos

    2014-01-01

    Frente a la crisis educativa, desde la perspectiva de la formación docente, este trabajo presenta una nueva propuesta a partir de mi experiencia en aulas, como capacitador y estudioso de la realidad educativa. El quid de la cuestión está en desarrollar las capacidades cognitivas de nuestros profesores y esto implica ser conscientes de ello; también, las instituciones formadoras deben comprometer a sus docentes en esa dirección. Por ello, se impone una didáctica de la comunicación. Este trabaj...

  17. Alternative Splicing Generates Different 5′ UTRs in OCT4B Variants

    OpenAIRE

    Poursani, Ensieh M.; Mehravar, Majid; Shahryari, Alireza; Mowla, Seyed Javad; Mohammad Soltani, Bahram

    2017-01-01

    Background: The human OCT4 gene, responsible for pluripotency and self-renewal of Embryonic Stem (ES) and Embryonic Carcinoma (EC) cells, can generate several transcripts (OCT4A, OCT4B-variant 2, OCT4B-variant 3, OCT4B-variant 5, OCT4B1, OCT4 B2 and OCT4B3) by alternative splicing and alternative promoters. OCT4A that is responsible for ES and EC cell stemness properties is transcribed from a promoter upstream of Exon1a in those cells. The OCT4B group variants (OCT4B-variant2, OCT4B-variant3,...

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

    OpenAIRE

    María Rojas; Marcela Camacho; María Grosso

    2009-01-01

    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 virulen...

  19. 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.

  20. 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.

  1. Selection of antigenically advanced variants of seasonal influenza viruses

    Science.gov (United States)

    Ozawa, Makoto; Taft, Andrew S.; Das, Subash C.; Hanson, Anthony P.; Song, Jiasheng; Imai, Masaki; Wilker, Peter R.; Watanabe, Tokiko; Watanabe, Shinji; Ito, Mutsumi; Iwatsuki-Horimoto, Kiyoko; Russell, Colin A.; James, Sarah L.; Skepner, Eugene; Maher, Eileen A.; Neumann, Gabriele; Kelso, Anne; McCauley, John; Wang, Dayan; Shu, Yuelong; Odagiri, Takato; Tashiro, Masato; Xu, Xiyan; Wentworth, David E.; Katz, Jacqueline M.; Cox, Nancy J.; Smith, Derek J.; Kawaoka, Yoshihiro

    2016-01-01

    Influenza viruses mutate frequently, necessitating constant updates of vaccine viruses. To establish experimental approaches that may complement the current vaccine strain selection process, we selected antigenic variants from human H1N1 and H3N2 influenza virus libraries possessing random mutations in the globular head of the haemagglutinin protein (which includes the antigenic sites) by incubating them with human and/or ferret convalescent sera to human H1N1 and H3N2 viruses. Further, we selected antigenic escape variants from human viruses treated with convalescent sera and from mice that had been previously immunized against human influenza viruses. Our pilot studies with past influenza viruses identified escape mutants that were antigenically similar to variants that emerged in nature, establishing the feasibility of our approach. Our studies with contemporary human influenza viruses identified escape mutants before they caused an epidemic in 2014–2015. This approach may aid in the prediction of potential antigenic escape variants and the selection of future vaccine candidates before they become widespread in nature. PMID:27572841

  2. Variant Root Morphology of Third Mandibular Molar in Normal and ...

    African Journals Online (AJOL)

    isaac kipyator

    2017-11-12

    Nov 12, 2017 ... Anatomy Journal of Africa. 2017. Vol 6 (3): 1052 - 1061. 1052. ORIGINAL COMMUNICATION. Variant Root Morphology of Third Mandibular Molar in Normal and. Impacted Teeth. Isaac Kipyator Bokindo1, Fawzia Butt 2,3, Francis Macigo4. 1School of Dental Sciences, University of Nairobi, Nairobi, Kenya.

  3. Histone variants of the insect Plodia interpunctella during metamorphosis.

    Science.gov (United States)

    Pataryas, T A; Sekeri-Pataryas, K T; Bonner, W M; Marinou, V A

    1984-01-01

    The pattern of histone variants from the meal moth Plodia interpunctella was compared to the mouse histone variant pattern. Plodia contains histones which comigrate on two dimensional gels with H3.2, H3.3, H4 and H2A.Z in mouse. Plodia H2A.1 and H2B.1 migrate somewhat differently from the respective mouse histones. Comparison of the iodinated tryptic peptides of H2A.1 and H2A.Z from mouse and Plodia showed that the H2A.Z proteins have two iodinated peptides that comigrate in the two species and three more that are different. The H2A.1 proteins in the two species have one iodinated peptide which comigrates and two more which migrate very close to each other. The histone variants from three developmental stages, larval, pupal and adult of Plodia interpunctella were also identified and compared. The same histone variant pattern is found through all stages of development. It is concluded that histone gene expression does not change during metamorphosis in Plodia .

  4. Superior repair: A useful approach for some anatomic variants of ...

    African Journals Online (AJOL)

    Background: Total anomalous pulmonary venous connection (TAPVC) occurs when all the four pulmonary veins drain to the right atrium or to tributaries of the systemic veins. There have been various published techniques for the repair but none has been agreed on for the different anatomical variants that may be ...

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

    Indian Academy of Sciences (India)

    RFLP technique carried out with the restriction enzyme HpaII, allowed the detection of ITS length variants among them. The molecular data was used in order to establish the genetic relationships among cultivars and botanical varieties of durum ...

  6. A process variant modeling method comparison : Experience report

    NARCIS (Netherlands)

    Aysolmaz, Banu; Yaldiz, Ali; Reijers, Hajo

    2016-01-01

    Various process variant modeling methods have been introduced in the literature to manage process diversity in a business context. In industrial settings, it is difficult to select a method suitable for the needs and limitations of the organization due to the limited number of examples and

  7. 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 ...

  8. 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...

  9. Isolation and characterization of Bordetella avium phase variants.

    Science.gov (United States)

    Gentry-Weeks, C R; Provence, D L; Keith, J M; Curtiss, R

    1991-01-01

    Two spontaneous phase variants of Bordetella avium were isolated at a frequency of 2 x 10(-4) by colony immunoblot assay of B. avium with antibody against B. avium dermonecrotic toxin. The two phase variants, designated GOBL309 and GOBL312, lack dermonecrotic toxin and four outer membrane proteins with molecular masses of 93, 48, 38, and 27 kDa but retain the ability to agglutinate guinea pig erythrocytes. The proteins which are not expressed by GOBL309 and GOBL312 correspond to five proteins which are phenotypically modulated in B. avium by growth in the presence of nicotinic acid or MgSO4. Growth of the phase variants in supplemented Stainer-Scholte media containing nicotinamide did not alter expression of these five proteins. Intranasal inoculation of the spontaneous phase variants into 3-day-old turkeys and reisolation of B. avium at 2 weeks postinoculation resulted in the recovery of B. avium which had the wild-type phenotype, colonized the turkey tracheas, and produced the four outer membrane proteins and dermonecrotic toxin. Hybridization of B. avium and B. avium-like chromosomal DNA with internal portions of the Bordetella pertussis virulence regulatory genes, bvgA and bvgS, revealed that B. avium and B. avium-like isolates contain 5.3- and 5.7-kb DNA fragments, respectively, which are homologous to bvgS. B. avium and B. avium-like chromosomal DNA failed to hybridize to B. pertussis bvgA. Images PMID:1937761

  10. 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.

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

    Indian Academy of Sciences (India)

    2013-12-10

    Dec 10, 2013 ... Those cases were case-series patients between. February 2008 and November 2009 in participating hospi- tals. Controls were all unrelated Germans, in whom, absence of MMD were confirmed by magnetic resonance imaging. (MRI) in the same period. Keywords. Caucasian; founder variant; genomewide ...

  12. A VARIANT OF LAURENCE - MOON - BARDET - BIEDL SYNDROME SUPERNUMERARY TEETH

    OpenAIRE

    Arun Kumar; Ramesh; Yashaswini; Basavaraju; Mohan Kumar

    2014-01-01

    This family had a spectrum of many variants of Laurence moon bardet biedel syndrome in a single family , which had not been reported till date w here the affected family members had supernumerary teeth. Hence we propose a new syndrome complex in this family which is similar to Bardet biedl syndrome , but with added features of supernumerary teeth

  13. Clear cell variant of syringoma as a rare case

    Directory of Open Access Journals (Sweden)

    Özben Yalçın

    2014-12-01

    Full Text Available Syringoma is a benign skin tumor derived from eccrine glands characterized by yellowish-pink color and firm papular lesions of the skin especially on the lower eyelid. Typical histopathological features of syringoma are dilated cystic eccrine sweat gland ducts. In this paper, we report a case of clear cell variant syringoma with neck and trunk lesions.

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

    Indian Academy of Sciences (India)

    2015-12-11

    Dec 11, 2015 ... according to statistics from the National Human Genome. Research Institute's GWAS catalogue (Hindorff et al. 2009). Despite GWAS being widely applied to identify common genetic variants associated with risk across more than 200 diseases and human phenotypic traits, the SNP array-based.

  15. Two new variants of the manifold-mapping technique

    NARCIS (Netherlands)

    D. Echeverria (David)

    2006-01-01

    htmlabstractManifold-mapping is an efficient surrogate-based optimization technique aimed at the acceleration of very time-consuming design problems. In this paper we present two new variants of the original algorithm that make it applicable to a broader range of optimization scenarios. The first

  16. Vitamin D Receptor Gene Variants in Parkinson's Disease Patients

    African Journals Online (AJOL)

    Rokhsareh Meamar

    2016-09-22

    Sep 22, 2016 ... ORIGINAL ARTICLE. Vitamin D receptor gene variants in Parkinson's disease patients. Rokhsareh Meamar a,b. , Seyed Morteza Javadirad ... b Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran .... the length of protein would be three amino acids shorter in.

  17. 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…

  18. Some new variants of serum protease inhibitors in Meishan pigs.

    Science.gov (United States)

    Stratil, A; Cepica, S; Cízová-Schröffelová, D; Geldermann, H

    1997-12-01

    Serum samples of Meishan (13 animals) and Meishan x Wild Boar crosses (361 animals) were analysed by means of two-dimensional electrophoresis. Some new variants in protease inhibitor systems PO1A, PO1B and PI2 are reported.

  19. Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes

    Science.gov (United States)

    Vrieze, Scott I.; Malone, Stephen M.; Pankratz, Nathan; Vaidyanathan, Uma; Miller, Michael B.; Kang, Hyun Min; McGue, Matt; Abecasis, Gonçalo; Iacono, William G.

    2014-01-01

    We mapped ~85,000 rare nonsynonymous exonic single nucleotide polymorphisms (SNPs) to 17 psychophysiological endophenotypes in 4,905 individuals, including antisaccade eye movements, resting EEG, P300 amplitude, electrodermal activity, affect-modulated startle eye blink. Nonsynonymous SNPs are predicted to directly change or disrupt proteins encoded by genes and are expected to have significant biological consequences. Most such variants are rare, and new technologies can efficiently assay them on a large scale. We assayed 247,870 mostly rare SNPs on an Illumina exome array. Approximately 85,000 of the SNPs were polymorphic, rare (MAF < .05), and nonsynonymous. Single variant association tests identified a SNP in the PARD3 gene associated with theta resting EEG power. The sequence kernel association test, a gene-based test, identified a gene PNPLA7 associated with pleasant difference startle, the difference in startle magnitude between pleasant and neutral images. No other single nonsynonymous variant, or gene-based group of variants, was strongly associated with any endophenotype. PMID:25387709

  20. 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 conse...

  1. Affective Differences Between Psychopathy Variants and Genders in Adjudicated Youth.

    Science.gov (United States)

    Gill, Andrew D; Stickle, Timothy R

    2016-02-01

    The present study used Model-Based Cluster analysis to identify primary and secondary psychopathy variants in a mixed-gender sample of 150 adjudicated adolescents (60 % male; M = 15.2 years old). Distinct primary and secondary psychopathy groups emerged and were entered into a structural equation path model for the purpose of predicting group differences in emotional experiences reported between youth assigned to each variant. Youth characterized by secondary psychopathy reported experiencing significantly more frequent and more intense negative affect than their primary psychopathy counterparts. Frequency and intensity of affect also mediated the association between psychopathy variants and symptoms of depression, in which the secondary psychopathy group endorsed significantly more symptoms of major depression than the primary psychopathy group. Overall, these results suggest that different causal processes and affective experiences may underlie distinct trajectories to primary and secondary psychopathy variants in adjudicated adolescents. As such, youths comprising the secondary subtype of psychopathy may be more aptly considered "callous and emotional," compared with the primary subtype who present as prototypically callous and unemotional.

  2. Association of Genetic Variants of Milk Proteins with Milk Production ...

    African Journals Online (AJOL)

    Administrator

    Lodes, A., Krause, I., Buchberger, J., Aumann, J. & Klostermeyer, H., 1997. The influence of genetic variants of milk proteins on the compositional and technological properties of milk. 3. Content of protein, casein, whey protein and casein number. Milchwissenschaft 52, 3-8. The South African Journal of Animal Science is ...

  3. Mutation Update for UBE3A variants in Angelman syndrome.

    Science.gov (United States)

    Sadikovic, Bekim; Fernandes, Priscilla; Zhang, Victor Wei; Ward, Patricia A; Miloslavskaya, Irene; Rhead, William; Rosenbaum, Richard; Gin, Robert; Roa, Benjamin; Fang, Ping

    2014-12-01

    Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic imprinting defects of UBE3A genomic locus account for majority of Angelman diagnoses, approximately 10% of individuals affected with Angelman syndrome are a result of UBE3A loss-of-function mutations occurring on the expressed maternal chromosome. The variants described in this manuscript represent the analysis of 2,515 patients referred for UBE3A gene sequencing at our institution, along with a comprehensive review of the UBE3A mutation literature. Of these, 267 (10.62%) patients had a report issued for detection of a UBE3A gene nucleotide variant, which in many cases involved family studies resulting in reclassification of variants of unknown clinical significance (VUS). Overall, 111 (4.41%) probands had a nucleotide change classified as pathogenic or strongly favored to be pathogenic, 29 (1.15%) had a VUS, and 126 (5.0%) had a nucleotide change classified as benign or strongly favored to be benign. All variants and their clinical interpretations are submitted to NCBI ClinVar, a freely accessible human variation and phenotype database. © 2014 WILEY PERIODICALS, INC.

  4. Variant root morphology of third mandibular molar in normal and ...

    African Journals Online (AJOL)

    Variant root morphology of third mandibular molar in normal and impacted teeth. Isaac Kipyator Bokindo, Fawzia Butt, Francis Macigo. Abstract. The mandibular third molar poses a challenge to dental surgeons due to it's unpredictable morphology which leads to increased difficulty during its extraction. The root morphology ...

  5. Reliability and Validation Study of the Online Instinctual Variant Questionnaire

    Science.gov (United States)

    Andre, Sherry

    2014-01-01

    Leaders often manage both chaos and diversity. We can improve our leadership effectiveness by better understanding our motives and behaviors, and those of our followers. A potential tool for leadership development is the Instinctual Variant Questionnaire (IVQ). Based on Enneagram theory (pronounced "ANY-a-gram"), this online instrument…

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

    NARCIS (Netherlands)

    Willsey, A. Jeremy; Fernandez, Thomas V.; Yu, Dongmei; King, Robert A.; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J.; Mandell, Jeffrey D.; Huang, Alden Y.; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E.; Neale, Benjamin M.; Coppola, Giovanni; Mathews, Carol A.; Tischfield, Jay A.; Scharf, Jeremiah M.; State, Matthew W.; Heiman, Gary A.

    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

  7. Oncogenic potential diverge among human papillomavirus type 16 natural variants

    Energy Technology Data Exchange (ETDEWEB)

    Sichero, Laura, E-mail: lsichero@gmail.com [Molecular Biology Laboratory, Center of Translational Oncology, Instituto do Cancer do Estado de Sao Paulo-ICESP, Sao Paulo 01246-000 (Brazil); Department of Virology, Ludwig Institute for Cancer Research, Sao Paulo 01323-903 (Brazil); Simao Sobrinho, Joao [Molecular Biology Laboratory, Center of Translational Oncology, Instituto do Cancer do Estado de Sao Paulo-ICESP, Sao Paulo 01246-000 (Brazil); Department of Virology, Ludwig Institute for Cancer Research, Sao Paulo 01323-903 (Brazil); Lina Villa, Luisa [Molecular Biology Laboratory, Center of Translational Oncology, Instituto do Cancer do Estado de Sao Paulo-ICESP, Sao Paulo 01246-000 (Brazil); Department of Virology, Ludwig Institute for Cancer Research, Sao Paulo 01323-903 (Brazil); Department of Radiology, School of Medicine, University of Sao Paulo (Brazil)

    2012-10-10

    We compared E6/E7 protein properties of three different HPV-16 variants: AA, E-P and E-350G. Primary human foreskin keratinocytes (PHFK) were transduced with HPV-16 E6 and E7 and evaluated for proliferation and ability to grow in soft agar. E-P infected keratinocytes presented the lowest efficiency in colony formation. AA and E-350G keratinocytes attained higher capacity for in vitro transformation. We observed similar degradation of TP53 among HPV-16 variants. Furthermore, we accessed the expression profile in early (p5) and late passage (p30) transduced cells of 84 genes commonly involved in carcinogenesis. Most differences could be attributed to HPV-16 E6/E7 expression. In particular, we detected different expression of ITGA2 and CHEK2 in keratinocytes infected with AA and AA/E-350G late passage cells, respectively, and higher expression of MAP2K1 in E-350G transduced keratinocytes. Our results indicate differences among HPV-16 variants that could explain, at least in part, differences in oncogenic potential attributed to these variants.

  8. Single-peak solitary wave solutions for the variant Boussinesq ...

    Indian Academy of Sciences (India)

    Variant Boussinesq equations; single-peak solitary wave; solitary wave; cuspon. PACS Nos 02.30.Jr; 03.40.Kf; 52.35.Sb; 02.30.Oz; 05.45.Yv. 1. Introduction. It is well known that the exact solutions for the nonlinear wave equations can help people to understand the described process properly. So finding the exact solutions ...

  9. 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

  10. BINOMIAL AND POISSON CONFIDENCE INTERVALS AND ITS VARIANTS: A BIBLIOGRAPHY

    Directory of Open Access Journals (Sweden)

    Anwar Khurshid

    2010-09-01

    Full Text Available The binomial and Poisson distributions are basis to many aspects of statistical data analysis. This bibliography attempts to provide a comprehensive listing of available literature on calculating confidence intervals for binomial and Poisson distributions and its variants. The bibliography includes articles published in statistical and subject-matter journals and in conference proceedings.

  11. Identification of novel intronic BRCA1 variants of uncertain ...

    Indian Academy of Sciences (India)

    Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family ... Faculty of Pharmaceutical Sciences, Department of Pharmaceutical Chemistry, Laboratory of Pharmaceutical Biotechnology, Prince of Songkla University, Hat-Yai, Songkhla 90112, Thailand; Faculty of ...

  12. Multiple common variants for celiac disease influencing immune gene expression

    NARCIS (Netherlands)

    Dubois, Patrick C. A.; Trynka, Gosia; Franke, Lude; Hunt, Karen A.; Romanos, Jihane; Curtotti, Alessandra; Zhernakova, Alexandra; Heap, Graham A. R.; Adany, Roza; Aromaa, Arpo; Bardella, Maria Teresa; van den Berg, Leonard H.; Bockett, Nicholas A.; de la Concha, Emilio G.; Dema, Barbara; Fehrmann, Rudolf S. N.; Fernandez-Arquero, Miguel; Fiatal, Szilvia; Grandone, Elvira; Green, Peter M.; Groen, Harry J. M.; Gwilliam, Rhian; Houwen, Roderick H. J.; Hunt, Sarah E.; Kaukinen, Katri; Kelleher, Dermot; Korponay-Szabo, Ilma; Kurppa, Kalle; MacMathuna, Padraic; Maki, Markku; Mazzilli, Maria Cristina; McCann, Owen T.; Mearin, M. Luisa; Mein, Charles A.; Mirza, Muddassar M.; Mistry, Vanisha; Mora, Barbara; Morley, Katherine I.; Mulder, Chris J.; Murray, Joseph A.; Nunez, Concepcion; Oosterom, Elvira; Ophoff, Roel A.; Polanco, Isabel; Peltonen, Leena; Platteel, Mathieu; Rybak, Anna; Salomaa, Veikko; Schweizer, Joachim J.; Sperandeo, Maria Pia; Tack, Greetje J.; Turner, Graham; Veldink, Jan H.; Verbeek, Wieke H. M.; Weersma, Rinse K.; Wolters, Victorien M.; Urcelay, Elena; Cukrowska, Bozena; Greco, Luigi; Neuhausen, Susan L.; McManus, Ross; Barisani, Donatella; Deloukas, Panos; Barrett, Jeffrey C.; Saavalainen, Paivi; Wijmenga, Cisca; van Heel, David A.

    We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) <10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions

  13. 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.

  14. Host Genetic Variants in the Pathogenesis of Hepatitis C

    Directory of Open Access Journals (Sweden)

    Monika Rau

    2012-11-01

    Full Text Available Direct-acting antiviral drugs (DAAs are currently replacing antiviral therapy for Hepatitis C infection. Treatment related side effects are even worse and the emergence of resistant viruses must be avoided because of the direct-antiviral action. Altogether it remains a challenge to take treatment decisions in a clinical setting with cost restrictions. Genetic host factors are hereby essential to implement an individualized treatment concept. In recent years results on different genetic variants have been published with a strong association with therapy response, fibrosis and treatment-related side effects. Polymorphisms of the IL28B gene were identified as accurate predictors for therapy response and spontaneous clearance of HCV infection and are already used for diagnostic decisions. For RBV-induced side effects, such as hemolytic anemia, associations to genetic variants of inosine triphosphatase (ITPA were described and different SLC28 transporters for RBV-uptake have been successfully analyzed. Fibrosis progression has been associated with variants of Vitamin D receptor (VDR and ABCB11 (bile salt export pump. Cirrhotic patients especially have a high treatment risk and low therapy response, so that personalized antiviral treatment is mandatory. This review focuses on different host genetic variants in the pathogenesis of Hepatitis C at the beginning of a new area of treatment.

  15. 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 ...

  16. 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 ...

  17. Association of the GRM4 gene variants with juvenile myoclonic ...

    Indian Academy of Sciences (India)

    [Parihar R., Mishra R., Singh S. K., Jayalakshmi S., Mehndiratta M. M. and Ganesh S. 2014 Association of the GRM4 gene variants with juvenile myoclonic ..... Neuroscience. 134, 1195–1203. Yoo J., Lee Y., Kim Y. and Rha S. Y. 2008 SNPAnalyzer 2.0: a web- based integrated workbench for linkage disequilibrium analysis.

  18. Occult hepatitis B virus infection: influence of S protein variants.

    Science.gov (United States)

    Zhang, Zhenhua; Zhang, Ling; Dai, Yu; Zhang, Yafei; Li, Jun; Li, Xu

    2016-01-19

    In occult hepatitis B viral infection (OBI), the persistence of hepatitis B virus (HBV) DNA is associated with a lack of hepatitis B surface antigen (HBsAg). To assess the possible role of HBsAg immune escape variants in OBI patients, variability in the HBV S gene was evaluated for OBI patients as well as chronic HBV infection patients from the same families. We selected 17 HBV DNA-positive/HBsAg-negative patients (OBI group) and 15 HBV DNA- and HBsAg-positive patients from OBI families (control group). The S gene was amplified and cloned, and at least 15 clones per patient were sequenced and analyzed. Although the incidence of stop codon mutations within the S region was higher in the OBI group (13.6 %) than in the control group (1.5 %, P type of mutation, together with insertion and deletion mutations, was prevalent in only three OBI patients. In the major hydrophilic region (MHR), a median of 0.75 residues were altered in every 100 residues for the OBI patients, whereas 0.95 out of 100 residues were changed in the control group (P = 0.428). Furthermore, some variants that are generally considered immune escape variants, such as mutations at positions s145, s147, and s123, were only observed in less than 5 % of all the clones sequenced, in either OBI or control group. Our data suggest that HBsAg variants may not play a major role in OBI pathogenesis.

  19. Assessment of genetic diversity among wheat somaclonal variants ...

    African Journals Online (AJOL)

    use

    2011-10-26

    Oct 26, 2011 ... variant lines obtained through in vitro selection for yellow rust disease among cells under different levels of p-fluorophenylalanine. (PFP) (Abouzied, 2004) as well as two check varieties (Sakha-94 and Giza-168) were used to establish the experimental materials for this investigation. All wheat varieties ...

  20. 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.

  1. A variant of pentalogy of cantrell in a live birth

    African Journals Online (AJOL)

    2010-06-14

    Jun 14, 2010 ... But as mentioned above, there are many variants which have been reported in the literature. For instance Liang et al,[5] reported a case diagnosed prenatally at 10weeks of gestation while Lutfu et al,[6] reported a case also diagnosed prenatally at 12-weeks gestation. In both cases diagnosis were made.

  2. A mother with variant Turner syndrome and two daughters with ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 92; Issue 2. A mother with variant Turner syndrome and two daughters with trisomy X: a case report. S. Ramachandram W. T. Keng R. Ariffin V. Ganesan. Research Note Volume 92 Issue 2 August 2013 pp 313-316 ...

  3. Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

    Science.gov (United States)

    Marschik, Peter B.; Einspieler, Christa; Oberle, Andreas; Laccone, Franco; Prechtl, Heinz F. R.

    2009-01-01

    The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand…

  4. Selection of antigenically advanced variants of seasonal influenza viruses

    NARCIS (Netherlands)

    Li, C. (Chengjun); Hatta, M. (Masato); D.F. Burke (David); Ping, J. (Jihui); Zhang, Y. (Ying); Ozawa, M. (Makoto); Taft, A.S. (Andrew S.); Das, S.C. (Subash C.); Hanson, A.P. (Anthony P.); Song, J. (Jiasheng); M. Imai; Wilker, P.R. (Peter R.); Watanabe, T. (Tokiko); Watanabe, S. (Shinji); Ito, M. (Mutsumi); Iwatsuki-Horimoto, K. (Kiyoko); C.A. Russell (Colin); S.L. James (Sarah ); E. Skepner (Eugene); E. Maher (Eileen); G. Neumann (Gabriele); A. Klimov (Alexander); A. Kelso; McCauley, J. (John); D. Wang (Dayan); Y.L. Shu (Yue-Long); T. Odagiri (Takato); Tashiro, M. (Masato); X. Xu (Xiyan); Wentworth, D.E. (David E.); J. Katz (Jacqueline); N.J. Cox (Nancy); D.J. Smith (Derek James); Y. Kawaoka (Yoshihiro)

    2016-01-01

    textabstractInfluenza viruses mutate frequently, necessitating constant updates of vaccine viruses. To establish experimental approaches that may complement the current vaccine strain selection process, we selected antigenic variants from human H1N1 and H3N2 influenza virus libraries possessing

  5. Genetic Variants Influencing Lipid Levels and Risk of Dyslipidemia ...

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... School of Medicine, University of Electronic Science and Technology of China Sichuan,. China. Huaichao ... especially relationship between these genetic variants and the riskof dyslipidemia remains unclearly. Here ... 1154women, were recruited by the Hospital of theUniversity of Electronic Science and.

  6. Case Report: Trigonocephaly and Dandy walker variant in an ...

    African Journals Online (AJOL)

    ... with Opitz trigonocephaly C syndrome (OTCS). We consider our patient as a mild form of OTCS and he needs close follow up because over time there may be a developmental delay, severe mental retardation and seizures. Keywords: Dandy walker malformation – Dandy walker variant; Craniosynostosis; Trigonocephaly ...

  7. Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis

    NARCIS (Netherlands)

    M.C. Castaño Betancourt (Martha); D.S. Evans (Daniel); Y.F.M. Ramos (Yolande); Boer, C.G. (Cindy G.); S. Metrustry (Sarah); Liu, Y. (Youfang); W. den Hollander (Wouter); J. Van Rooij (Jeroen); Kraus, V.B. (Virginia B.); Yau, M.S. (Michelle S.); B.D. Mitchell (Braxton); Muir, K. (Kenneth); A. Hofman (Albert); M. Doherty (Michael); S. Doherty (Sally); W. Zhang (Weiya); R. Kraaij (Robert); F. Rivadeneira Ramirez (Fernando); Barrett-Connor, E. (Elizabeth); R.A. MacIewicz (Rose); N.K. Arden (Nigel); R.G.H.H. Nelissen (Rob); M. Kloppenburg (Margreet); Jordan, J.M. (Joanne M.); M.C. Nevitt (Michael); E. Slagboom (Eline); D. Hart (Deborah); F.P.J.G. Lafeber (Floris); U. Styrkarsdottir (Unnur); E. Zeggini (Eleftheria); E. Evangelou (Evangelos); T.D. Spector (Timothy); A.G. Uitterlinden (André); N.E. Lane; I. Meulenbelt (Ingrid); A.M. Valdes (Ana Maria); J.B.J. van Meurs (Joyce)

    2016-01-01

    textabstractOsteoarthritis is one of the most frequent and disabling diseases of the elderly. Only few genetic variants have been identified for osteoarthritis, which is partly due to large phenotype heterogeneity. To reduce heterogeneity, we here examined cartilage thickness, one of the structural

  8. Figure politiche del precariato negli anni ‘70: brevi cenni per una genealogia

    Directory of Open Access Journals (Sweden)

    Andrea Cavazzini

    2011-07-01

    Full Text Available Il tema della precarietà – sul piano lavorativo e su quello, correlato al primo, “esistenziale” – trova, in Italia, un primo momento di formulazione attorno alla metà degli anni Settanta. Si tratta innanzitutto di una formulazione, non esclusivamente sociologica né macroeconomica, ma direttamente politica, fermo restando che queste tre dimensioni non sono realmente separabili nel discorso marxista, che ha indubbiamente “tenuto a battesimo” l’emergenza della figura del precario, ed in particolar modo nella sua variante operaista che ha rappresentato un punto di riferimento incontestabile per i movimenti e le creazioni politiche da cui la Penisola è stata investita nel secondo dopoguerra.

  9. 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.

  10. 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

  11. Diagnostic shoulder arthroscopy: incidence of physiologic variants of joint structures

    Directory of Open Access Journals (Sweden)

    Martin Mikek

    2005-04-01

    Full Text Available Background: Shoulder arthroscopy first described by Burman already in 1930, has evolved only in last 15 years to become a common accepted diagnostic and therapeutic procedure in treatment of different shoulder conditions. Parallely to the advances in arthroscopic operative techniques also our knowledge about arthroscopic shoulder anatomy expanded and many physiologic variants in anatomical structures have been identified in glenohumeral joint. It is very important to be familiar with those when performing shoulder arthroscopy, since in some cases they can easily be mistaken for pathologic lesions which can lead to unnecessary and potentially harmful operative procedures.Methods: We prospectively evaluated arthroscopic shoulder anatomy in 54 consecutive shoulder arthroscopies performed for different shoulder conditions in our practice. In all patients diagnostic arthroscopy was performed following the SCOI protocol described by Snyder. With regard to the anatomy variants described in literature and its importance in shoulder arthroscopy, special attention was focused on three regions of glenohumeral joint: long head of biceps tendon with its anchor and adjacent superior labrum, anterior joint capsule with glenohumeral ligaments and subscapularis tendon and on anterior labrum. The incidence of the observed anatomical variants was calculated. The most common combinations of anatomy variants were described and schematically presented.Results: The most significant anatomical variant observed in the region of long head of biceps tendon, biceps anchor and superior labrum was sublabral sulcus that was observed in 17% of shoulders. The region of anterior capsule with glenohumeral ligaments and subscapularis tendon showed greatest anatomical variability, especially the MGHL and the IGHL were very variably expressed and in some cases also absent. In the region of anterior labrum two significant anatomical variants were observed, one of them sublabral hole

  12. Efecto de las variantes genéticas sobre los parámetros enzimáticos de la butirilcolinesterasa humana

    Directory of Open Access Journals (Sweden)

    Jennifer Castro

    2016-06-01

    Full Text Available Introducción: Las enzimas colinesterasas humanas – acetilcolinesterasa (AChE y la butirilcolinesterasa (BChE – se presentan a lo largo de la mayoría de los principales sistemas de órganos en una variedad de seres vivos. La BChE es una alfa glicoproteína que hidroliza ésteres de colina, compuestos alifáticos y algunos fármacos. Esta enzima presenta gran cantidad de variantes genéticas – más de 100 variantes han sido identificadas, entre las más estudiadas se encuentra la variante Kalow (K, la cual es la más frecuentemente encontrada en varias poblaciones humanas. La actividad de la BChE se puede medir por diferentes métodos: colorimétricos, potenciométricos, entre otros. Uno de los  métodos más sencillos y económicos para medir la actividad colinesterasa es el potenciométrico de Michel. Este estudio busca identificar el efecto del polimorfismo rs1803274 (variante-K en los parámetros enzimáticos de la butirilcolinesterasa humana mediante el método potenciométrico de Michel. Objetivo: Determinar si la presencia del polimorfismo genético rs1803274 (BChE modifica los parámetros enzimáticos Vmax y Km de la butirilcolinesterasa humana. Materiales y Métodos: Se utilizaros 9 muestras de sangre de personas portadoras de la variante K (homocigotos y heterocigotos. Las muestras de sangre fueron colectadas en tubos de heparina. Para las determinaciones enzimáticas se empleó el método potenciométrico de Michel y se variaron las condiciones de reacción (pH, temperatura, concentración de sustrato y efecto de un inhibidor. Resultados: Se encontró una actividad enzimática menor cuando la variante-K estaba presente en la BChE en comparación con la enzima no polimórfica. Esta diferencia iba en aumento a medida que se incrementaba la temperatura del medio. Conclusiones: La disminución de la actividad enzimática portadora de la variante-K se correlacionó con los cambios de temperatura. Esto sugiere que la disminución de

  13. 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

  14. BBCAnalyzer: a visual approach to facilitate variant calling.

    Science.gov (United States)

    Sandmann, Sarah; de Graaf, Aniek O; Dugas, Martin

    2017-02-28

    Deriving valid variant calling results from raw next-generation sequencing data is a particularly challenging task, especially with respect to clinical diagnostics and personalized medicine. However, when using classic variant calling software, the user usually obtains nothing more than a list of variants that pass the corresponding caller's internal filters. Any expected mutations (e.g. hotspot mutations), that have not been called by the software, need to be investigated manually. BBCAnalyzer (Bases By CIGAR Analyzer) provides a novel visual approach to facilitate this step of time-consuming, manual inspection of common mutation sites. BBCAnalyzer is able to visualize base counts at predefined positions or regions in any sequence alignment data that are available as BAM files. Thereby, the tool provides a straightforward solution for evaluating any list of expected mutations like hotspot mutations, or even whole regions of interest. In addition to an ordinary textual report, BBCAnalyzer reports highly customizable plots. Information on the counted number of bases, the reference bases, known mutations or polymorphisms, called mutations and base qualities is summarized in a single plot. By uniting this information in a graphical way, the user may easily decide on a variant being present or not - completely independent of any internal filters or frequency thresholds. BBCAnalyzer provides a unique, novel approach to facilitate variant calling where classical tools frequently fail to call. The R package is freely available at http://bioconductor.org . The local web application is available at Additional file 2. A documentation of the R package (Additional file 1) as well as the web application (Additional file 2) with detailed descriptions, examples of all input- and output elements, exemplary code as well as exemplary data are included. A video demonstrates the exemplary usage of the local web application (Additional file 3). Additional file 3: Supplement_3. Video

  15. Germline Genetic Variants and Lung Cancer Survival in African Americans.

    Science.gov (United States)

    Jones, Carissa C; Bush, William S; Crawford, Dana C; Wenzlaff, Angela S; Schwartz, Ann G; Wiencke, John K; Wrensch, Margaret R; Blot, William J; Chanock, Stephen J; Grogan, Eric L; Aldrich, Melinda C

    2017-08-01

    Background: African Americans have the highest lung cancer mortality in the United States. Genome-wide association studies (GWASs) of germline variants influencing lung cancer survival have not yet been conducted with African Americans. We examined five previously reported GWAS catalog variants and explored additional genome-wide associations among African American lung cancer cases. Methods: Incident non-small cell lung cancer cases ( N = 286) in the Southern Community Cohort Study were genotyped on the Illumina HumanExome BeadChip. We used Cox proportional hazards models to estimate HRs and 95% confidence intervals (CIs) for overall mortality. Two independent African American studies ( N = 316 and 298) were used for replication. Results: One previously reported variant, rs1878022 on 12q23.3, was significantly associated with mortality (HR = 0.70; 95% CI: 0.54-0.92). Replication findings were in the same direction, although attenuated (HR = 0.87 and 0.94). Meta-analysis had a HR of 0.83 (95% CI, 0.71-0.97). Analysis of common variants identified an association between chromosome 6q21.33 and mortality (HR = 0.46; 95% CI, 0.33-0.66). Conclusions: We identified an association between rs1878022 in CMKLR1 and lung cancer survival. However, our results in African Americans have a different direction of effect compared with a prior study in European Americans, suggesting a different genetic architecture or presence of gene-environment interactions. We also identified variants on chromosome 6 within the gene-rich HLA region, which has been previously implicated in lung cancer risk and survival. Impact: We found evidence that inherited genetic risk factors influence lung cancer survival in African Americans. Replication in additional populations is necessary to confirm potential genetic differences in lung cancer survival across populations. Cancer Epidemiol Biomarkers Prev; 26(8); 1288-95. ©2017 AACR . ©2017 American Association for Cancer Research.

  16. Alexitimia, una revisión.

    OpenAIRE

    Juan Otero Rodríguez

    1999-01-01

    Se realiza una revisión del concepto de alexitimia: los antecedentes, la aparición y el desarrollo del constructo, las críticas más importantes, el estado actual del tema y la propuesta de distinción entre alexitimia primaria y secundaria.

  17. Anhedonia: una revisión conceptual.

    OpenAIRE

    José María Olivares

    1995-01-01

    La incapacidad para experimentar placer se encuentra en pacientes diagnosticados de esquizofrenia, depresión, trastorno obsesivo compulsivo, en algunas enfermedades neurológicas y como efecto secundario de determinados fármacos. La revisión de la literatura demuestra una notable confusión conceptual en la definición de dicho síntoma.

  18. NEUROCISTICERCOSIS: UNA ENFERMEDAD QUE NO DEBEMOS OLVIDAR.

    OpenAIRE

    RICARDO FERNÁNDEZ-RODRÍGUEZ; CORAL GONZÁLEZ FERNÁNDEZ; JORGE GUITIÁN DELTELL

    2017-01-01

    La cisticercosis es una infección causada por Cysticercus cellulosae, la larva del helminto Taenia solium o “tenia del cerdo”. Taenia solium puede producir dos formas de infección: Teniasis intestinal (tenias maduras) e infestación por cisticercos que anidan en distintos órganos y tejidos

  19. Formar investigadores para una cultura de paz

    Directory of Open Access Journals (Sweden)

    Guillermo Hoyos Vásquez

    1997-10-01

    Full Text Available Este artículo realiza un examen de las políticas estatales y universitarias alrededor de la conformación de una estrategia de ciencia y tecnología que permitirá mirar y rediseñar futuros cambios acordes a las necesidades del país.

  20. 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.

  1. 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

  2. Una expresión equivocada?

    Directory of Open Access Journals (Sweden)

    Mario Rivero

    1966-08-01

    Full Text Available El fracaso del Pop, por lo agresivo de sus programas, lo ambicioso de sus pretensiones y que puede parecer real desde la perspectiva de lo episódico y lo anecdótico, no aparece como tal si se lo mira en una dimensión menos relativa y menos superficial.

  3. 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.

  4. Como una luna en el agua [Score

    Directory of Open Access Journals (Sweden)

    Francisco del Pino

    2014-12-01

    Full Text Available The title of the solo piano piece Como una luna en el agua, composed between June and July of 2014, refers to the end of the seventh chapter of the novel Rayuela (Hopscotch by the Argentine writer Julio Cortázar, in which an allegorical description of a kiss takes the form of a prose poem.

  5. Eva Canel, una mujer de paradojas

    Directory of Open Access Journals (Sweden)

    Barcia Zequeira, María del Carmen

    2001-06-01

    Full Text Available Eva Canel fue una mujer de entre siglos, vivió en los años en que los presupuestos de la modernidad alcanzaban a las capas populares. Su vida estuvo signada por paradójicas posiciones: conservadora en la vida real, tanto por sus perspectivas políticas como por sus criterios con respecto al papel de la mujer en la sociedad, abordó en sus novelas y obras de teatro complejos problemas sociales a los cuales dio las soluciones más audaces. Fue directora del periódico La Cotorra, en La Habana, y de la revista Cosmos, en Buenos Aires.

    Aunque algunos la han considerado como una escritora americana por su larga estancia en el continente, ella se valoraba como una representante del españolismo más intransigente. Este artículo aborda algunas de las contradicciones presentes en una mujer con aspiraciones en la vida intelectual y responsabilidades familiares, entre los años finales del siglo XIX y los primeros del XX.

  6. 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.

  7. Diseño de una matriz progresiva para realizar una pieza de chapa

    OpenAIRE

    Romanillos Delgado, Daniel

    2010-01-01

    En el siguiente proyecto se presenta el diseño de una matriz progresiva para realizar una pieza de chapa en acero por deformaciones en frío de un producto que se ha solicitado la realización de un restyling. El restyling realizado tiene como finalidad crear un producto nuevo rediseñando de la pieza inicial que se desea fabricar mejorando aspectos como simplificación del proceso productivo, reducción de costes al reutilizar elementos del producto anterior y crear una nueva image...

  8. Perspectivas de una estrategia nacional de competitividad

    Directory of Open Access Journals (Sweden)

    Roberto Gutiérrez

    1997-06-01

    Full Text Available En los años cincuentas surgió una amplia perspectiva teórica llamada la teoría de la modernización, la cual ha tenido una gran difusión en las ciencias sociales desde entonces. La "modernización" era el camino hacia el desarrollo de un país. La pretendida modernidad incluía una economía liberalizada, un sistema político democrático y una cultura universal. Hoy, la receta para lograr el desarrollo consiste en ser competitivos en los mercados mundiales. Las promesas de la modernización y la competitividad no se han convertido ni se convertirán en realidad. En el presente ensayo hay un examen del devenir histórico de las teorías de la modernización y de las ideas sobre competitividad para resaltar sus similitudes, sus afirmaciones y aquello que está ausente en ambas, y analizar el resultado de sus promesas en relación con el desarrollo nacional. No conocer la historia del descrédito de las teorías sobre la modernización es condenarse a repetirla; mínimo, a reciclarla con unas ideas que son variaciones alrededor del mismo tema. Un análisis de los supuestos, postulados y prescripciones compartidos por las perspectivas que tratan sobre la modernización y la competitividad de nuestras sociedades permite apreciar el alcance de la actual estrategia nacional de competitividad en un país como Colombia.

  9. 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

  10. Fourteen genetically variant proteins of mouse brain: discovery of two new variants and chromosomal mapping of four loci.

    Science.gov (United States)

    Goldman, D; Pikus, H J

    1986-04-01

    With the description here of variant proteins A13 (pI 5.9, MW 62 kd) and A14 (pI 5.3, MW 26 kd), 14 polypeptides of mouse brain visualized by two-dimensional electrophoresis (2DE) exhibit genetic variation in isoelectric point. Using 22 B X D recombinant inbred strains, we map four of these loci and show that a fifth is independent of known loci. A pI 5.6, 81-kd protein of mouse brain mitochondria designated A1 is demonstrated to be an independent locus closely linked to LY-2 and LVP-1 on mouse chromosome 6. A pI 5.6, 28-kd genetically variant brain polypeptide designated A12 maps to chromosome 1 and shows identity with the known mouse locus LTW-4. The locus for A8 is not closely linked to any previously mapped locus. However, the locus for the newly described variant A13 shows 3 of 18 recombinants with the DNA polymorphism RN7S-2 and 2 of 18 recombinants with HC (hemolytic complement) and is thus probably located proximally to HC near the centromere of chromosome 2. Genetic and biochemical evidence is presented for the identification of A14 as ALP-1 (apolipoprotein 1), mapping to chromosome 9. In addition to these 13 genetically variant polypeptides, the positions of 12 other polypeptides which have been identified on 2DE gels of mouse brain are given.

  11. VARIANTE TRICOLEUCÉMICA DE CÉLULAS B, CON RESTRICCIÓN ISOTÍPICA KAPPA Y AFECTACIÓN DÉRMICA.

    Directory of Open Access Journals (Sweden)

    Miguel Ángel Martínez-González

    2004-01-01

    Full Text Available Resumen: Se presenta un caso inusual de una variante de leucemia de células peludas en una mujer de 75 años de edad que debutó con una infiltración dérmica de 15 meses de evolución con lesiones violáceas que se desarrollaron de forma progresiva en ambas mamas hasta ocasionar la deformidad de la areola. Se realizó una biopsia de la lesión cuntánea que se complementó con un estudio ultraestructural. Los marcadores inmunológicos en sangre periférica determinaron un fenotipo de células B con restricción istópica kappa. Instaurado el tratamiento con interferón alfa2b las lesiones cutáneas regresaron a las tres semana en su totalidad aunque persistió la afectación sistémica falleciendo con enfermedad activa a los 5 meses del diagnóstico.

  12. 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.

  13. Da retta a curva: costruzioni grafiche di trasformazione di una retta spezzata in una linea curva

    Directory of Open Access Journals (Sweden)

    Marco Carpiceci

    2012-06-01

    Full Text Available Proviamo a pensare quali sequenze di tratti curvilinei possono meglio descrivere una poligonale. Le curve più semplici sono la circonferenza e l’ellisse, e queste sono le due linee curve che vengono utilizzate in questo saggio. La linea ellittica ha una complessità in più rispetto alla circonferenza: la sua utilizzazione all’interno di polilinee non è sempre tollerata dai software grafici. La soluzione migliore quindi è senz’altro la "simulazione" della forma ellittica mediante il numero minore possibile di tratti circolari.Un’ultima costruzione fornisce la possibilità di costruire, per punti, una curva di forma apparentemente ellittica ma determinata come un originale tipo di trasformata: la congiunzione per trasformazione polare. Di questa funzione viene analizzato sia l’aspetto grafico, sia quello analitico; consentendone una visione completa, al di là della contingente utilità per il disegno.

  14. Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

    Science.gov (United States)

    Burns, Charlotte; Bagnall, Richard D; Lam, Lien; Semsarian, Christopher; Ingles, Jodie

    2017-08-01

    Multiple likely pathogenic/pathogenic (LP/P; ≥2) variants in patients with hypertrophic cardiomyopathy were described 10 years ago with a prevalence of 5%. We sought to re-examine the significance of multiple rare variants in patients with hypertrophic cardiomyopathy in the setting of comprehensive and targeted panels. Of 758 hypertrophic cardiomyopathy probands, we included 382 with ≥45 cardiomyopathy genes screened. There were 224 (59%) with ≥1 rare variant (allele frequency ≤0.02%). Variants were analyzed using varying sized gene panels to represent comprehensive or targeted testing. Based on a 45-gene panel, 127 (33%) had a LP/P variant, 139 (36%) had variants of uncertain significance, and 66 (17%) had multiple rare variants. A targeted 8-gene panel yielded 125 (32%) LP/P variants, 52 (14%) variants of uncertain significance, and 14 (4%) had multiple rare variants. No proband had 2 LP/P variants. Including affected family members (total n=412), cluster-adjusted analyses identified a phenotype effect, with younger age (odds ratio, 0.95; 95% confidence interval, 0.92-0.98; P =0.004) and family history of sudden cardiac death (odds ratio, 3.5; 95% confidence interval, 1.3-9.9; P =0.02) significantly more likely in multiple versus single variant patients when considering an 8-gene panel but not larger panels. Those with multiple variants had worse event-free survival from all-cause death, cardiac transplantation, and cardiac arrest (log-rank P =0.008). No proband had multiple LP/P variants in contrast to previous reports. However, multiple rare variants regardless of classification were seen in 4% and contributed to earlier disease onset and cardiac events. Our findings support a cumulative variant hypothesis in hypertrophic cardiomyopathy. © 2017 American Heart Association, Inc.

  15. 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

  16. 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; Calleja, Fabienne M. G. R.; Meeks, Huong; Hallberg, Emily; Hinton, Jamie; Lilyquist, Jenna; Hu, Chunling; Aalfs, Cora M.; Aittomaki, 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; Bruning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Cheng, Ching-Yu; Choi, Ji-Yeob; Collee, J. Margriet; Cox, Angela; Cross, Simon S.; Czene, Kamila; Darabi, Hatef; Dennis, Joe; Dork, Thilo; dos-Santos-Silva, Isabel; Dunning, Alison M.; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; Garcia-Closas, Montserrat; Giles, Graham G.; Glendon, Gord; Guenel, 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; Le Marchand, Loic; 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, Pauld D. P.; Pylkas, 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, Therese; 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

  17. Segregation of naturally occurring mitochondrial DNA variants in a mini-pig model

    Science.gov (United States)

    Within cells and tissues, the maternally inherited mitochondrial genome (mtDNA) is present in multimeric form and can harbour naturally occurring variants. Whilst high variant load can cause mitochondrial disease, naturally occurring mtDNA variants likely persist at low levels across generations of ...

  18. Distribution of human papillomavirus type 16 variants in Lithuanian women with cervical cancer

    Directory of Open Access Journals (Sweden)

    Živilė Gudlevičienė

    2015-01-01

    Conclusions: The European HPV 16 L83V variant is usually associated with high risk of cervical cancer among women. However, statistically significant difference was not achieved when comparing difference of L83V variants between investigated groups and in HPV 16 L83V variant and prototype distribution in CIN3/Ca in situ and cancer.

  19. 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.

  20. Weighting sequence variants based on their annotation increases power of whole-genome association studies

    DEFF Research Database (Denmark)

    Sveinbjornsson, Gardar; Albrechtsen, Anders; Zink, Florian

    2016-01-01

    The consensus approach to genome-wide association studies (GWAS) has been to assign equal prior probability of association to all sequence variants tested. However, some sequence variants, such as loss-of-function and missense variants, are more likely than others to affect protein function...

  1. 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...

  2. 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.

  3. 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.

  4. 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.

  5. Costa Rica 1986. Una democracia amenazada

    Directory of Open Access Journals (Sweden)

    Manuel Rojas Bolaños

    2015-01-01

    Full Text Available La revista se centra en el rol que desempeñan los medios en las campañas electorales,se publica la función política de éstos en Escandinavia,(1983La campaña electoral en una transición política en Argentina, (1986Una democracia amenazada en Costa Rica, (1985 Rescate de la memoria colectiva desde el Perú, (1983 Impacto de la crisis económica en Venezuela,(1986 Impresiones del periodismo político en Austria, (1984Propaganda electoral en la prensa de Quito, (1984 Estados Unidos. Estrategia de Comunicación:la elección presidencial. En la sección NUEVAS TECNOLOGÍAS se habla de los flujos de datos transfrontera (FDT y cuestiones afines.

  6. Yo adoro a una rubia norteamericana

    Directory of Open Access Journals (Sweden)

    Carlos Gutiérrez Alfonzo

    2006-04-01

    Full Text Available En este texto se muestra cómo Santiago Serrano —poeta chiapaneco de la generación agrupada en torno a la compilación Fiesta de Pájaros, publicada por Héctor Eduardo Paniagua en 1932— configura un tipo de mujer en una ciudad alejada de todas aquellas que habían aparecido hasta entonces en la poesía chiapaneca. Se analiza también cómo esa mujer fuera de lo común transforma al yo poético, quien había vivido sumido en el sentimentalismo, en un ser dispuesto a perseguir una vida esforzada.

  7. 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.

  8. 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.

  9. La conducta prosocial: una vision de conjunto

    Directory of Open Access Journals (Sweden)

    C. Molero

    1999-01-01

    Full Text Available En el presente trabajo se lleva a cabo una revisión de la evolución histórica que ha experimentado el concepto prosocial, intentando ofrecer una visión actualizada del mismo. Partiendo de la investigación de González Portal et al. (1989,1992, como marco de referencia, se presentan las perspectivas actuales que gozan de mayor relevancia en esta área. Con objeto de analizar el incremento en la producción científica, los autores más importantes y las líneas de investigación que sobre el comportamiento prosocial se han ido desarrollando; se utiliza el material recensionado a lo largo del período comprendido entre 1989 y 1997 en la base de datos del Psychological Abstracts.

  10. Langer's axillary arch: a rare variant, and prevalence among Caucasians.

    Science.gov (United States)

    Turki, M A; Adds, P J

    2017-01-01

    During the dissection of a 79-year-old Caucasian female cadaver, a variant of Langer's axillary arch was found unilaterally in the left axilla. While Langer's axillary arches are not uncommon, this particular variant, attaching to the biceps brachii, is much rarer with a reported prevalence of only 0.25%. The case reported here, however, is only the third example of a Langer's axillary arch that has been found in the last 14 years in the Dissecting Room at St. George's, University of London, giving it an overall prevalence of approximately 1.0% amongst a population of around 280 Caucasian cadavers, much lower than the reported frequency of 7%. Langer's axillary arches can be completely asymptomatic in life, but may also cause a variety of issues both clinically and surgically.

  11. 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.

  12. 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.)

  13. 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...

  14. 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.

  15. 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...

  16. Chromophobe renal cell carcinoma, oncocytic variant: Cytological and ultrastructural observations

    Directory of Open Access Journals (Sweden)

    Tadanori Yamaguchi

    2015-01-01

    Full Text Available There is only one report on cytological findings of oncocytic variant of chromophobe renal cell carcinoma (RCC. In this article, we report a new case with focus on cytological, and ultrastructural findings. A 60-year-old Japanese man was found to have a right renal tumor on medical checkup. In imprint cytological materials, the smears consisted of slightly discohesive clusters and isolated tumor cells with granular green colored cytoplasm on Papanicolaou staining. Nuclei were generally round and centrally located in the cytoplasm, but nuclear irregularity or perinuclear halo was absent. Ultrastructurally, the tumor was full of mitochondria with tubulovesicular cristae. Fluorescence in situ hybridization study using histological material showed multiple chromosomal losses including chromosomes 7, 10, 13, and 17. This finding supports the hypothesis that this variant may ultrastructurally show the nature of chromophobe RCC rather than renal oncocytoma.

  17. Single organ variant of polyarteritis nodosa in epididymis

    Directory of Open Access Journals (Sweden)

    Ketan Garg

    2015-01-01

    Full Text Available Polyarteritis nodosa (PAN is a systemic necrotizing vasculitis that typically affects medium-sized muscular arteries, with occasional involvement of small muscular arteries. Unlike some other vasculitides (e.g. microscopic polyarteritis, Wegener′s granulomatosis PAN is not associated with antineutrophil cytoplasmic antibodies. Patients typically present with systemic symptoms such as fever, weight loss, and malaise. The kidneys, skin, joints, muscles, nerves, and gastrointestinal tract are commonly involved, usually in some combination. PAN can affect any organ, but usually spare the lungs. Clinical variants or subsets of PAN include single-organ disease and cutaneous-only PAN. Scrotal involvement is rarely the first presenting sign. We herein report a case of 36-year-old man who presented with a swelling in the left epididymis, which was surgically removed. The swelling histopathologically showed necrotizing inflammation, fibrinoid necrosis of the medium-sized arteries of the epididymis and was diagnosed to be single organ variant of PAN.

  18. HD-CNV: hotspot detector for copy number variants.

    Science.gov (United States)

    Butler, Jenna L; Osborne Locke, Marjorie Elizabeth; Hill, Kathleen A; Daley, Mark

    2013-01-15

    Copy number variants (CNVs) are a major source of genetic variation. Comparing CNVs between samples is important in elucidating their potential effects in a wide variety of biological contexts. HD-CNV (hotspot detector for copy number variants) is a tool for downstream analysis of previously identified CNV regions from multiple samples, and it detects recurrent regions by finding cliques in an interval graph generated from the input. It creates a unique graphical representation of the data, as well as summary spreadsheets and UCSC (University of California, Santa Cruz) Genome Browser track files. The interval graph, when viewed with other software or by automated graph analysis, is useful in identifying genomic regions of interest for further study. HD-CNV is an open source Java code and is freely available, with tutorials and sample data from http://daleylab.org. jcamer7@uwo.ca

  19. Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine

    Directory of Open Access Journals (Sweden)

    Tonia C. Carter

    2016-01-01

    Full Text Available Advances in genomic medicine have the potential to change the way we treat human disease, but translating these advances into reality for improving healthcare outcomes depends essentially on our ability to discover disease- and/or drug-associated clinically actionable genetic mutations. Integration and manipulation of diverse genomic data and comprehensive electronic health records (EHRs on a big data infrastructure can provide an efficient and effective way to identify clinically actionable genetic variants for personalized treatments and reduce healthcare costs. We review bioinformatics processing of next-generation sequencing (NGS data, bioinformatics infrastructures for implementing precision medicine, and bioinformatics approaches for identifying clinically actionable genetic variants using high-throughput NGS data and EHRs.

  20. 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

    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. RESULTS: Thirty...... 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...

  1. Genetic variants of the human dipeptide transporter PEPT1

    DEFF Research Database (Denmark)

    Anderle, Pascale; Nielsen, Carsten Uhd; Pinsonneault, Julia

    2006-01-01

    We tested whether genetic polymorphisms affect activity of the dipeptide transporter PEPT1, which mediates bioavailability of peptidomimetic drugs. All 23 exons and adjoining intronic sections of PEPT1 (SLC15A1) were sequenced in 247 individuals of various ethnic origins (Coriell collection). Of 38...... single nucleotide polymorphisms (SNPs), 21 occurred in intronic and non-coding regions and 17 in exonic coding region, of which nine were nonsynonymous. Eight nonsynonymous variants were cloned into expression vectors and functionally characterized after transient transfection into Cos7 and Chinese...... formation of a splice variant (PEPT1-RF). PEPT1-RF mRNA levels ranged from 2 to 44% of total PEPT1-related mRNA, with potential consequences for drug absorption. Together with previous results, this study reveals a relatively low level of genetic variability in polymorphisms affecting both protein function...

  2. Acute disseminated encephalomyelitis and other inflammatory demyelinating variants.

    Science.gov (United States)

    Scolding, Neil

    2014-01-01

    Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory central nervous system disorder characterized by acute or subacute onset of multifocal neurologic deficits with headache and impaired conscious level. Acute haemorrhagic leuoko-encephalitis (AHEM) is a more sever, often fatal variant. These disorders often follows a viral illness or vaccination, and are usually monophasic, though (probably more commonly in childhood) a multiphasic variant of ADEM is recognized. Because of the relative non-specificity of the clinical presentation (a sub-acute encephalopathy with focal signs), the differential diagnosis is wide; and distinction from the first episode of relapsing-remitting multiple sclerosis can occasionally be difficult. Here the clinical and investigational features of these disorders and their treatment are discussed. © 2014 Elsevier B.V. All rights reserved.

  3. 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

    This review focuses on the genetic basis of atrial fibrillation (AF) and the role of variants in the susceptibility of developing the disease. AF is the most common cardiac arrhythmia affecting 1-2% of the general population. Studies in the last decade have demonstrated that AF, and in particular....... The pathophysiological mechanisms responsible for AF are still far from completely understood, and it is assumed that this arrhythmia represents a complex interplay of genetic predispositions, arrhythmogenic contributors such as electrolytes and inflammatory stimuli as well as contributions from concomitant cardiac...... 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...

  4. 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

    Krabbe disease is a severe, fatal neurodegenerative disorder caused by defects in the lysosomal enzyme galactocerebrosidase (GALC). The correct targeting of GALC to the lysosome is essential for the degradation of glycosphingolipids including the primary lipid component of myelin. Over 100...... 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...... to cause disease due to protein misfolding and should be targeted for pharmacological chaperone therapies. Other GALC variants can be correctly secreted by cells and cause disease due to catalytic defects in the enzyme active site, inappropriate post-translational modification or a potential inability...

  5. Dandy-Walker variant associated with bipolar affective disorder.

    Science.gov (United States)

    Lingeswaran, Anand; Barathi, Deepak; Sharma, Gyaneswahr

    2009-07-01

    The Dandy-Walker malformation is a congenital brain malformation, typically involving the fourth ventricle and the cerebellum. To date, the Dandy-Walker syndrome has not been described in association with bipolar disorder type I mania, and therefore we briefly report the case of a Dandy-Walker variant associated with acute mania. A 10-year-old boy was brought by his mother to the outpatient clinic of the Department of Psychiatry of a tertiary care hospital, with symptoms of mania. The MRI brain of the patient showed a posterior fossa cystic lesion, a giant cisterna magna communicating with the fourth ventricle and mild hypoplasia of the cerebellar vermis, with the rest of the structures being normal and no signs of hydrocephalus. These findings showed that the patient had a Dandy-Walker variant. He responded partially to valproate and olanzepine, which controlled the acute manic symptoms in the ward.

  6. 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.

  7. Coarctation of the aorta associated with Dandy–Walker variant

    Science.gov (United States)

    Zhou, Li; Lui, George K.; Shenoy, Rajesh; Taub, Cynthia C.

    2013-01-01

    This article reports a rare case of coarctation of the aorta associated with Dandy–Walker variant in a 17-year-old girl. Differential diagnoses of coarctation of the aorta and Dandy–Walker variant are extensively discussed. In addition, standard surgical treatment of coarctation as well as new approaches such as endovascular stenting are described in detail to provide therapeutic insights into her management. Although surgical or endovascular repair of coarctation results in significant improvement of systemic hypertension and is associated with better survival, cardiovascular complications are still very common. Thus, long-term follow-up after repair is required, and high-quality imaging studies such as echocardiography, CT and MRI are warranted. PMID:24396258

  8. Coarctation of the aorta associated with Dandy-Walker variant.

    Science.gov (United States)

    Zhou, Li; Lui, George K; Shenoy, Rajesh; Taub, Cynthia C

    2013-09-01

    This article reports a rare case of coarctation of the aorta associated with Dandy-Walker variant in a 17-year-old girl. Differential diagnoses of coarctation of the aorta and Dandy-Walker variant are extensively discussed. In addition, standard surgical treatment of coarctation as well as new approaches such as endovascular stenting are described in detail to provide therapeutic insights into her management. Although surgical or endovascular repair of coarctation results in significant improvement of systemic hypertension and is associated with better survival, cardiovascular complications are still very common. Thus, long-term follow-up after repair is required, and high-quality imaging studies such as echocardiography, CT and MRI are warranted.

  9. Binary morphology with spatially variant structuring elements: algorithm and architecture.

    Science.gov (United States)

    Hedberg, Hugo; Dokladal, Petr; Owall, Viktor

    2009-03-01

    Mathematical morphology with spatially variant structuring elements outperforms translation-invariant structuring elements in various applications and has been studied in the literature over the years. However, supporting a variable structuring element shape imposes an overwhelming computational complexity, dramatically increasing with the size of the structuring element. Limiting the supported class of structuring elements to rectangles has allowed for a fast algorithm to be developed, which is efficient in terms of number of operations per pixel, has a low memory requirement, and a low latency. These properties make this algorithm useful in both software and hardware implementations, not only for spatially variant, but also translation-invariant morphology. This paper also presents a dedicated hardware architecture intended to be used as an accelerator in embedded system applications, with corresponding implementation results when targeted for both field programmable gate arrays and application specific integrated circuits.

  10. Splice variants of androgen receptor and prostate cancer

    Directory of Open Access Journals (Sweden)

    Orazio Caffo

    2016-05-01

    Full Text Available Over the last ten years, two new-generation hormonal drugs and two chemotherapeutic agents have been approved for the treatment of metastatic castration-resistant prostate cancer. Unfortunately, some patients have primary resistance to them and the others eventually develop secondary resistance. It has recently been suggested that the presence of androgen receptor splice variants plays a leading role in the primary and secondary resistance to the new hormonal drugs, whereas their presence seem to have only a partial effect on the activity of the chemotherapeutic agents. The aim of this paper is to review the published data concerning the role of androgen receptor splice variants in prostate cancer biology, and their potential use as biomarkers when making therapeutic decisions.

  11. 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".

  12. 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.

  13. Una descomposición convexa

    Directory of Open Access Journals (Sweden)

    Mario Lomelí-Haro

    2014-12-01

    Full Text Available Dada una colección P de puntos en el plano, una descomposición convexa de P es un conjunto Γ de polígonos convexos con vértices 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 Abstract. Given a point set P on the plane, a convex decomposition of P is a set Γ of convex polygons with vertices in P satisfying the following conditions: The union of all elements in Γ is the convex hull of P, every element in Γ is empty (that is, they no contain any element of P in its interior, and any given 2 elements in Γ its interiors are disjoint intersecting them in at most one edge. It is known that if P has n elements, then there exists a convex decomposition of P with at most 7n 5 elements. In this work we give a procedure to find a specific convex decomposition of P with at most 3n 2 elements.

  14. 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.

  15. Una riflessione interdisciplinare sul termine cambiamento

    OpenAIRE

    Giuseppe Licari,

    2013-01-01

    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 uma...

  16. ¿Es Manizales una Ciudad Verde?

    OpenAIRE

    Aguilar Gómez, Miguel Ángel

    2011-01-01

    Desde sus comienzos, Manizales se ha debatido entre el amor y la indiferencia por la naturaleza, pues sus fundadores libraron una dura lucha por doblegar la agreste selva que encontraron en el sitio elegido para fundar la ciudad, la cuarta ubicación luego de intentarlo en los lugares en donde hoy están La Enea, Minitas y el Cerro de Oro

  17. Una lectura al Qohélet

    Directory of Open Access Journals (Sweden)

    Oscar Javier Arango

    2014-01-01

    Full Text Available Esta disertación sobre el Qohélet o el Eclesiastés, libro del canon sapiencial, es el resultado de una lectura aficionada que empezó años atrás y que fue transformándose en objeto de estudio. Mi lectura fue más literaria que teológica, lo que hizo que una parte importante del libro quedara por fuera de mis alcances. Sin embargo, la carencia de conocimientos especializados, me brindó la posibilidad de buscar otras maneras teóricas de acercarme al texto. El análisis qu 285 e presento se limita a hacer una lectura intuitiva de la forma sapiencial en el libro del Eclesiastés —apoyado en las relaciones particulares entre experiencia, reflexión y expresión, propias (según esta propuesta de lectura de la literatura sapiencia— y con ello, a proponer una definición de la base formal de este género basada en su propósito, que es la búsqueda de la ética. Esta propuesta atiende a la idea de que “la Biblia es el fundamento de toda la literatura occidental”. No obstante, paradójicamente, el conocimiento que se tiene de la Biblia en la academia, proviene más de la tradición oral que de la lectura o estudio del texto mismo.

  18. 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.

  19. Connected speech production in three variants of primary progressive aphasia

    OpenAIRE

    Wilson, Stephen M.; Henry, Maya L.; Besbris, Max; Ogar, Jennifer M.; Dronkers, Nina F.; Jarrold, William; Miller, Bruce L; Gorno-Tempini, Maria Luisa

    2010-01-01

    Primary progressive aphasia is a clinical syndrome defined by progressive deficits isolated to speech and/or language, and can be classified into non-fluent, semantic and logopenic variants based on motor speech, linguistic and cognitive features. The connected speech of patients with primary progressive aphasia has often been dichotomized simply as ‘fluent’ or ‘non-fluent’, however fluency is a multidimensional construct that encompasses features such as speech rate, phrase length, articulat...

  20. 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.