Sample records for acelerada del ingrediente

  1. Etnografía acelerada para transformar normas sociales sobre género y sexualidad en hombres puertorriqueños heterosexuales1,2

    PubMed Central

    Ortiz-Torres, Blanca; Rivera-Ortiz, Rafael J.; Mendoza, Sigrid

    2014-01-01

    Resumen La construcción de roles de género dominantes contribuyen al riesgo de contraer VIH, y por tal razón se ha urgido a que se integren las normas sociales relativas al género en las intervenciones preventivas del VIH. Este estudio pretende adaptar y desarrollar una intervención que facilite la transformación de normas sociales del género y de prácticas sexuales en hombres puertorriqueños. La intervención propone transformar normas sociales relacionadas al género y sexualidad en barras comunitarias utilizando el modelo de líderes de opinión. Luego de ser elegidos/as, los/as líderes de opinión diseminan mensajes integrando la importancia de relaciones equitativas entre parejas para la prevención del VIH. La primera fase de esta intervención es discutida en este artículo, la cual incluye un proceso de etnografía acelerada para identificar los escenarios comunitarios en los que podemos desarrollar esta intervención y permitirnos entender la cultura de las barras comunitarias. A partir de las observaciones etnográficas, pudimos: desarrollar un protocolo de seguridad para realizar las observaciones, desarrollar un perfil de la cultura de las barras, elegir las barras a participar en las dos condiciones del estudio y adaptar los instrumentos de la intervención para que respondieran a la particularidad de los/as participantes. PMID:25530828

  2. Explorando nuevos horizontes en NASA

    NASA Astrophysics Data System (ADS)

    Villanueva, G. L.

    A pesar de la incesante expansión del Universo iniciada con el Big Bang 14 mil millones de años atrás, nuestro Universo se siente cada día más cercano. La inquebrantable vocación de la humanidad por descubrir nuevos horizontes ha permitido el acercamiento de civilizaciones en nuestro planeta y nos ha permitido conocer nuestro lugar en el Universo como nunca antes. En este artículo presento una breve sinopsis de nuestro trabajo que se relaciona con diversas investigaciones con implicaciones astrobiológicas, desde el origen de los ingredientes de la "sopa de la vida", hasta la evolución y composición de la atmósfera de Marte.

  3. The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

    PubMed

    Diana, Anna; Polizzi, Angela Maria; Santostasi, Teresa; Ratclif, Luigi; Pantaleo, Maria Giuseppina; Leonetti, Giuseppina; Iusco, Danila Rosa; Gallo, Crescenzio; Conese, Massimo; Manca, Antonio

    2016-06-01

    Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients who at a first analysis appeared homozygous for the F508del mutation (n=63) or compound heterozygous for the F508del and another mutation in the cystic fibrosis transmembrane conductance regulator gene (n=155) were searched for the A238V mutation in exon 6. The allelic frequency of the complex allele [A238V;F508del] was 0.04. When the whole data set was used (comprised also of 56 F508del/F508del and 34 F508del/other mutation controls), no differences reached the statistical significance in the clinical parameters, except chloride concentrations which were lower in [A238V;F508del]/other mutation compared with F508del/other mutation (P=0.03). The two study groups presented less complications than the control groups. Within the minimal data set (34 F508del/F508del, 27 F508del/other mutation, 4 [A238V;F508del]/F508del cases and 5 [A238V;F508del]/other mutation cases); that is, presenting all the variables in each patient, forced expiratory volume in 1 s and forced vital capacity presented a trend to lower levels in the study groups in comparison with the F508del/F508del group, and C-reactive protein approximated statistically significant higher levels in the [A238V;F508del]/other mutation as compared with F508del/F508del patients (P=0.09). The analysis of statistical dependence among the variables showed a significant anticorrelation between chloride and body mass index in the [A238V;F508del]/other mutation group. In conclusion, the complex allele [A238V;F508del] seems to be associated with less general complications than in the control groups, on the other hand possibly giving a worse pulmonary phenotype and higher systemic/local inflammatory response. These findings have implications for the correct recruitment and clinical response of F508del patients in the clinical trials testing the new etiological drugs for cystic fibrosis.

  4. 77 FR 31032 - National Institute on Aging; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-24

    ... applications. Place: Marina del Rey Hotel, 13534 Bali Way, Marina del Rey, CA 90292. Contact Person: Bita... applications. Place: Marina del Rey Hotel, 13534 Bali Way, Marina del Rey, CA 90292. Contact Person: Ramesh... and evaluate grant applications. Place: Marina del Rey Hotel, 13534 Bali Way, Marina del Rey, CA 90292...

  5. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Marina Del Rey, CA. 80.1118...

  6. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false Marina Del Rey, CA. 80.1118...

  7. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2013-07-01 2013-07-01 false Marina Del Rey, CA. 80.1118...

  8. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Marina Del Rey, CA. 80.1118...

  9. 33 CFR 80.1118 - Marina Del Rey, CA.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... NAVIGATION RULES COLREGS DEMARCATION LINES Pacific Coast § 80.1118 Marina Del Rey, CA. (a) A line drawn from Marina Del Rey Breakwater South Light 1 to Marina Del Rey Light 4. (b) A line drawn from Marina Del Rey... 33 Navigation and Navigable Waters 1 2014-07-01 2014-07-01 false Marina Del Rey, CA. 80.1118...

  10. 8th Argentinean Bioengineering Society Conference (SABI 2011) and 7th Clinical Engineering Meeting

    NASA Astrophysics Data System (ADS)

    Meschino, Gustavo Javier; Ballarin, Virginia L.

    2011-12-01

    In September 2011, the Eighteenth Edition of the Argentinean Bioengineering Society Conference (SABI 2011) and Seventh Clinical Engineering Meeting were held in Mar del Plata, Argetina. The Mar del Plata SABI Regional and the School of Engineering of the Universidad Nacional de Mar del Plata invited All bioengineers, engineers, physicists, mathematicians, biologists, physicians and health professionals working in the field of Bioengineering to participate in this event. The overall objectives of the Conference were: To provide discussion of scientific research results in Bioengineering and Clinical Engineering. To promote technological development experiences. To strengthen the institutional and scientific communication links in the area of Bioengineering, mainly between Universities of Latin America. To encourage students, teachers, researchers and professionals to establish exchanges of experiences and knowledge. To provide biomedical engineering technology solutions to the society and contributing ideas for low cost care. Conference photograph Conference photograph Conference photograph Conference photograph EXECUTIVE COMMITTEE SABI 2011 Chair Dra Virginia L Ballarin Universidad Nacional de Mar del Plata Co-Chair Dra Teresita R Cuadrado Universidad Nacional de Mar del Plata - CONICET Local Comittee Dr Gustavo Abraham Universidad Nacional de Mar del Plata - CONICET Dra Josefina Ballarre Universidad Nacional de Mar del Plata - CONICET Dr Eduardo Blotta Universidad Nacional de Mar del Plata Dra Agustina Bouchet Universidad Nacional de Mar del Plata Dr Marcel Brun Universidad Nacional de Mar del Plata Dra Silvia Ceré Universidad Nacional de Mar del Plata - CONICET Dra Mariela Azul Gonzalez Universidad Nacional de Mar del Plata - CONICET Dra Lucia Isabel Passoni Universidad Nacional de Mar del Plata Dr Juan Ignacio Pastore Universidad Nacional de Mar del Plata - CONICET Dra Adriana Scandurra Universidad Nacional de Mar del Plata SCIENTIFIC ADVISORY COMMITTEE President Dr Gustavo Meschino Universidad Nacional de Mar del Plata Comittee Dr Gustavo Abraham Universidad Nacional de Mar del Plata - CONICET Mg Rubén Acevedo Universidad Nacional de Entre Ríos Ing Pablo Agüero Universidad Nacional de Mar del Plata Ing Mariela Ambrustolo Universidad Nacional de Mar del Plata Dr Ricardo Armentano Universidad Favaloro Dra Virginia L Ballarin Universidad Nacional de Mar del Plata Dra Josefina Ballarre Universidad Nacional de Mar del Plata - CONICET Dr Eduardo Blotta Universidad Nacional de Mar del Plata Ing Marco Benalcázar Universidad Nacional de Mar del Plata Mg Freddy Geovanny Benalcázar Palacios Escuela Superior Politécnica de Chimborazo, Ecuador Dr Roberto Boeri Universidad Nacional de Mar del Plata - CONICET - INTEMA Dra Agustina Bouchet Universidad Nacional de Mar del Plata Dr Ariel Braidot Universidad Nacional de Entre Ríos Dr Marcel Brun Universidad Nacional de Mar del Plata Dra Silvia Ceré Universidad Nacional de Mar del Plata - CONICET Ing Fernando Clara Universidad Nacional de Mar del Plata Dr Raúl Correa Prado Universidad Nacional de San Juan Bioing Pablo Cortez Universidad Nacional de Mar del Plata Dra Teresita R Cuadrado Universidad Nacional de Mar del Plata - CONICET Ing Eduardo De Forteza Universidad Favaloro Dra Mariana Del Fresno Universidad Nacional del Centro de la Provincia de Buenos Aires Dr Martín Diaz Informática Médica Hospital Aleman de Buenos Aires - GIBBA Ing Julio César Doumecq Universidad Nacional de Mar del Plata Mg Ana María Echenique Universidad Nacional de San Juan Bioing Pedro Escobar Universidad Nacional del Centro, Olavarría, Pcia de Buenos Aires Dr Fernando Daniel Farfán Universidad Nacional de Tucumán Dr Carmelo Felice Universidad Nacional de Tucumán - CONICET Dr Elmer Fernández Universidad Católica de Córdoba - CONICET Ing José Flores Universidad Nacional de Entre Ríos Dr Arturo Gayoso Universidad Nacional de Mar del Plata Dra Bioing Agustina Garcés Universidad Nacional de San Juan ¬- CONICET Bioing Luciano Gentile Universidad Favaloro Mg María Eugenia Gómez Universidad Nacional de San Juan Dr Claudio González Universidad Nacional de Mar del Plata Mg Esteban González Universidad Nacional de Mar del Plata Dra Mariela A Gonzalez Universidad Nacional de Mar del Plata - CONICET Dr Juan Pablo Graffigna Universidad Nacional de San Juan Dra Myriam Herrera Universidad Nacional de Tucumán - CONICET Dr Roberto Hidalgo Universidad Nacional de Mar del Plata Dr Roberto Isoardi Fundación Escuela de Medicina Nuclear de Mendoza - CNEA Dra Susana Jerez Universidad Nacional de Tucumán Dr Eric Laciar Universidad Nacional de San Juan - CONICET Bioing Roberto Leonarduzzi Universidad Nacional de Entre Ríos Mg Norberto Lerendegui Instituto Tecnológico de Buenos Aires Dra Natalia López Universidad Nacional de San Juan - CONICET Dra Rossana Madrid Universidad Nacional de Tucuman - CONICET Ing Florencia Montini Ballarin Universidad Nacional de Mar del Plata - CONICET Dra Emilce Moler Universidad Nacional de Mar del Plata Dr Jorge Castiñieira Moreira Universidad Nacional de Mar del Plata Dr Silvia Murialdo Universidad Nacional de Mar del Plata - CIC Dr Juan Manuel Olivera Universidad Nacional de Tucumán Dra Lucia Isabel Passoni Universidad Nacional de Mar del Plata Dr Juan Ignacio Pastore Universidad Nacional de Mar del Plata - CONICET Dra María Elisa Pérez Universidad Nacional de San Juan Mg Franco M Pessana Universidad Favaloro Dr Julio Politti Universidad Nacional de Tucumán Dr Marcelo Risk Universidad Nacional de Buenos Aires - CONICET Ing Raúl Rivera Universidad Nacional de Mar del Plata Mg Luis Rocha Universidad Nacional de Tucumán - SIPROSA Dra Silvia Rodrigo Universidad Nacional de San Juan Dra Viviana Rotger Universidad Nacional de Tucumán Dr Leonardo Rufiner Universidad Nacional de Entre Rios - CONICET Dra Estela Ruiz Universidad Nacional de Tucumán Dr Martín Santiago Universidad Nacional del Centro de la Provincia de Buenos Aires Dra Adriana Scandurra Universidad Nacional de Mar del Plata Ing Graciela Secreto Universidad Favaloro Mg Pablo Solarz Universidad Nacional de Tucumán Mg Carolina Tabernig Universidad Nacional de Entre Ríos Ing Ricardo Taborda Universidad Nacional de Córdoba Dra María Eugenia Torres Universidad Nacional de Entre Ríos - CONICET Ing Juan Carlos Tulli Universidad Nacional de Mar del Plata Dr Gerardo Tusman Hospital Privado de Comunidad, Mar del Plata Dr Santiago Urquiza Universidad Nacional de Mar del Plata Mg Andrés Valdez Universidad Nacional de San Juan Dr Máximo Valentinuzzi INSIBIO - CONICET - Universidad Nacional de Tucumán

  11. The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility*

    PubMed Central

    Mitzelfelt, Katie A.; Limphong, Pattraranee; Choi, Melinda J.; Kondrat, Frances D. L.; Lai, Shuping; Kolander, Kurt D.; Kwok, Wai-Meng; Dai, Qiang; Grzybowski, Michael N.; Zhang, Huali; Taylor, Graydon M.; Lui, Qiang; Thao, Mai T.; Hudson, Judith A.; Barresi, Rita; Bushby, Kate; Jungbluth, Heinz; Wraige, Elizabeth; Geurts, Aron M.; Benesch, Justin L. P.; Riedel, Michael; Christians, Elisabeth S.; Minella, Alex C.; Benjamin, Ivor J.

    2016-01-01

    Mutations of HSPB5 (also known as CRYAB or αB-crystallin), a bona fide heat shock protein and molecular chaperone encoded by the HSPB5 (crystallin, alpha B) gene, are linked to multisystem disorders featuring variable combinations of cataracts, cardiomyopathy, and skeletal myopathy. This study aimed to investigate the pathological mechanisms involved in an early-onset myofibrillar myopathy manifesting in a child harboring a homozygous recessive mutation in HSPB5, 343delT. To study HSPB5 343delT protein dynamics, we utilize model cell culture systems including induced pluripotent stem cells derived from the 343delT patient (343delT/343delT) along with isogenic, heterozygous, gene-corrected control cells (WT KI/343delT) and BHK21 cells, a cell line lacking endogenous HSPB5 expression. 343delT/343delT and WT KI/343delT-induced pluripotent stem cell-derived skeletal myotubes and cardiomyocytes did not express detectable levels of 343delT protein, contributable to the extreme insolubility of the mutant protein. Overexpression of HSPB5 343delT resulted in insoluble mutant protein aggregates and induction of a cellular stress response. Co-expression of 343delT with WT prevented visible aggregation of 343delT and improved its solubility. Additionally, in vitro refolding of 343delT in the presence of WT rescued its solubility. We demonstrate an interaction between WT and 343delT both in vitro and within cells. These data support a loss-of-function model for the myopathy observed in the patient because the insoluble mutant would be unavailable to perform normal functions of HSPB5, although additional gain-of-function effects of the mutant protein cannot be excluded. Additionally, our data highlight the solubilization of 343delT by WT, concordant with the recessive inheritance of the disease and absence of symptoms in carrier individuals. PMID:27226619

  12. Proyecto para la medición sistemática de seeing en CASLEO

    NASA Astrophysics Data System (ADS)

    Fernández Lajus, E.; Forte, J. C.

    La calidad del seeing astronómico es ciertamente uno de los parámetros mas importantes que caracterizan el sitio de un observatorio. Por tanto se desea determinar si el alto valor de seeing observado con el telescopio de 2.15 m se debe a efectos internos y/o del entorno a la cupula o si se debe simplemente al seeing propio del lugar. El actual mecanismo de refrigeración del espejo primario del 2.15, parece haber mejorado notablemente la calidad del seeing. Sin embargo se hace necesario saber hasta que punto el valor del seeing puede ser mejorado. La primera etapa del proyecto consistió en la puesta a punto del telescopio emplazado para este propósito y la adquisición de las primeras medidas tentativas de seeing.

  13. Ingredientes Farmacéuticos Activos Potencialmente Inapropiados en Adultos Mayores: Lista IFAsPIAM: Panel de Consenso Argentino.

    PubMed

    Marzi, Marta M; Pires, Miryam S; Quaglia, Nora B

    2018-04-18

    To perform a list agreed by Argentinean experts and adapted to the local context containing potentially inappropriate (PI) medications in old people (OP) usingthe Delphi consensus technique optimized for this subject. A preliminary list of potentially inappropriate medications (PIM) was drawn up based on foreign PIM lists and a selective search in the scientific literature. The iterative Delphi process was used to submit the active pharmaceutical ingredients (APIs) of the preliminary PIM list to the panel of Argentinean experts. The analysis of theanswers to determine the arrival to the consensus was carried out applying three criteria specially defined for this purpose. After two Delphi rounds, it was not reached agreement about 12 APIs. The List of explicit criteria for PIAPIs for use in OP (IFAsPIAM List) was finally constituted by 128 APIs corresponding to 9 groups of the ATC classification system to which they were organized. In addition to each API, information justifying the unfavorable benefit/risk profile and therapeutic alternatives or recommendations/precautions was recorded. The group with the most PI APIs was N (NervousSystem) (60; 47%) followed by groups C (Cardiovascular) and M (Musculoskeletal). This study presents the first Latin American list of PIM in OP developed using an expert consensus technique. The IFAs PIAM List would contribute to the rational use of drugs in elderly population, constituting a valuable tool in Argentinean public health. Copyright © 2018. Published by Elsevier Inc.

  14. Intertextual Sexual Politics: Illness and Desire in Enrique Gomez Carrillo's "Del amor", "del dolor y del vicio" and Aurora Caceres's "La rosa muerta"

    ERIC Educational Resources Information Center

    LaGreca, Nancy

    2012-01-01

    This study explores the intertextuality between Aurora Caceres's "La rosa muerta" (1914) and the novel "Del amor, del dolor y del vicio" (1898) by her ex-husband, Enrique Gomez Carrillo. Caceres strategically mentions Gomez Carrillo's novel in "La rosa muerta" to invite a reading of her work in dialogue with his. Both narratives follow the sexual…

  15. Associations between uncoupling protein 2, body composition, and resting energy expenditure in lean and obese African American, white, and Asian children.

    PubMed

    Yanovski, J A; Diament, A L; Sovik, K N; Nguyen, T T; Li, H; Sebring, N G; Warden, C H

    2000-06-01

    Little is known about genes that affect childhood body weight. The objective of this study was to examine the association between alleles of the mitochondrial uncoupling protein 2 (UCP2) gene and obesity because UCP2 may influence energy expenditure. We related UCP2 genotype to body composition and resting energy expenditure in 105 children aged 6-10 y. Overweight children and nonoverweight children of overweight parents were genotyped for a 45-base pair deletion/insertion (del/ins) in 3'-untranslated region of exon 8 and for an exon 4 C to T transition. Eighty-nine children were genotyped for the exon 8 allele: 50 children had del/del, 33 had del/ins, and 6 had ins/ins. Mean (+/-SD) body mass index (BMI; in kg/m(2)) was greater for children with del/ins (24.1 +/- 5.9) than for children with del/del (20.4 +/- 4.8; P < 0.001). BMI of ins/ins children (23.7 +/- 7.8) was not significantly different from that of del/ins children. A greater BMI in del/ins children was independent of race and sex. Body composition was also different according to UCP2 genotype. All body circumferences and skinfold thicknesses examined were significantly greater in del/ins than in del/del children. Body fat mass as determined by dual-energy X-ray absorptiometry was also greater in del/ins than in del/del children (P < 0.005). For 104 children genotyped at exon 4, no significant differences in BMI or body composition were found among the 3 exon 4 genotypes. Neither resting energy expenditure nor respiratory quotient were different according to UCP2 exon 4 or exon 8 genotype. The exon 8 ins/del polymorphism of UCP2 appears to be associated with childhood-onset obesity. The UCP2/UCP3 genetic locus may play a role in childhood body weight.

  16. Antagonistic effects of IL-17 and D-resolvins on endothelial Del-1 expression through a GSK-3β-C/EBPβ pathway.

    PubMed

    Maekawa, Tomoki; Hosur, Kavita; Abe, Toshiharu; Kantarci, Alpdogan; Ziogas, Athanasios; Wang, Baomei; Van Dyke, Thomas E; Chavakis, Triantafyllos; Hajishengallis, George

    2015-09-16

    Del-1 is an endothelial cell-secreted anti-inflammatory protein. In humans and mice, Del-1 expression is inversely related to that of IL-17, which inhibits Del-1 through hitherto unidentified mechanism(s). Here we show that IL-17 downregulates human endothelial cell expression of Del-1 by targeting a critical transcription factor, C/EBPβ. Specifically, IL-17 causes GSK-3β-dependent phosphorylation of C/EBPβ, which is associated with diminished C/EBPβ binding to the Del-1 promoter and suppressed Del-1 expression. This inhibitory action of IL-17 can be reversed at the GSK-3β level by PI3K/Akt signalling induced by D-resolvins. The biological relevance of this regulatory network is confirmed in a mouse model of inflammatory periodontitis. Intriguingly, resolvin-D1 (RvD1) confers protection against IL-17-driven periodontal bone loss in a Del-1-dependent manner, indicating an RvD1-Del-1 axis against IL-17-induced pathological inflammation. The dissection of signalling pathways regulating Del-1 expression provides potential targets to treat inflammatory diseases associated with diminished Del-1 expression, such as periodontitis and multiple sclerosis.

  17. DEL phenotype.

    PubMed

    Kwon, Dong H; Sandler, S G; Flegel, Willy A

    2017-09-01

    DEL red blood cells (RBCs) type as D- by routine serologic methods and are transfused routinely, without being identified as expressing a very weak D antigen, to D- recipients. DEL RBCs are detected only by adsorption and elution of anti-D or by molecular methods. Most DEL phenotypes have been reported in population studies conducted in East Asia, although DEL phenotypes have been detected also among Caucasian individuals. Approximately 98 percent of DEL phenotypes in East Asians are associated with the RHD*DEL1 or RHD*01EL.01 allele. The prevalence of DEL phenotypes has been reported among D- Han Chinese (30%), Japanese (28%), and Korean (17%) populations. The prevalence of DEL phenotypes is significantly lower among D- Caucasian populations (0.1%). Among the 3-5 percent of African individuals who are D-, there are no reports of the DEL phenotype. Case reports from East Asia indicate that transfusion of DEL RBCs to D- recipients has been associated with D alloimmunization. East Asian immigrants constitute 2.1 percent of the 318.9 million persons residing in the United States, and an estimated 2.8 percent are blood donors. Using these statistics, we estimate that 68-683 units of DEL RBCs from donors of East Asian ancestry are transfused as D- annually in the United States. Given the reports from East Asia of D alloimmunization attributed to transfusion of DEL RBCs, one would expect an occasional report of D alloimmunization in the United States following transfusion of DEL RBCs to a D- recipient. If such cases do occur, the most likely reason that they are not detected is the absence of active post-transfusion monitoring for formation of anti-D.

  18. ASSOCIATIONS BETWEEN UNCOUPLING PROTEIN 2, BODY COMPOSITION, AND RESTING ENERGY EXPENDITURE IN LEAN AND OBESE AFRICAN AMERICAN, CAUCASIAN, AND ASIAN CHILDREN

    PubMed Central

    Yanovski, J.A.; Diament, A.L.; Sovik, K.N.; Nguyen, T.T.; Li, H.; Sebring, N.G.; Warden, C.H.

    2015-01-01

    Background Little is known about genes affecting childhood body weight. Objective To examine alleles of the mitochondrial uncoupling protein-2 (UCP2) gene for association with obesity, since UCP2 may influence energy expenditure. Design We related UCP2 genotype to body composition, and to resting energy expenditure, in 105 children aged 6–10y. Overweight children and non-overweight children of overweight parents were genotyped for a 45 bp deletion/insertion (del/ins) in 3’ UTR of exon 8 and for an exon 4 C to T transition. Results 89 children were genotyped for the exon 8 allele: 50 children had del/del, 33 del/ins, and 6 ins/ins. Body mass index (BMI) was greater for del/ins (24.1 ± 5.9 kg/m2) than for del/del (20.4 ± 4.8 kg/m2, p<0.001). BMI of ins/ins (23.7 ± 7.8 kg/m2) was not different from del/ins. This effect was independent of race and gender (ANOVAs, p< 0.05). Body composition was also different according to UCP2 genotype. All body circumferences and skin fold thicknesses examined were significantly greater in del/ins than in del/del. DXA body fat mass (p<0.005) was also greater in del/ins than del/del. For 104 children genotyped at exon 4, no significant differences in BMI or body composition were found among the three exon 4 genotypes. Neither resting energy expenditure nor respiratory quotient were different according to UCP2 exon 4 or exon 8 genotype. Conclusion The exon 8 ins/del polymorphism of UCP2 appears to be associated with childhood-onset obesity. The UCP2/UCP3 genetic locus may play a role in childhood body weight. PMID:10837279

  19. Vigilando la Calidad del Agua de los Grandes Rios de la Nacion: El Programa NASQAN del Rio Grande (Rio Bravo del Norte)

    USGS Publications Warehouse

    Lurry, Dee L.; Reutter, David C.; Wells, Frank C.; Rivera, M.C.; Munoz, A.

    1998-01-01

    La Oficina del Estudio Geologico de los Estados Unidos (U.S. Geological Survey, 0 USGS) ha monitoreado la calidad del agua de la cuenca del Rio Grande (Rio Bravo del Norte) desde 1995 como parte de la rediseiiada Red Nacional para Contabilizar la Calidad del Agua de los Rios (National Stream Quality Accounting Network, o NASOAN) (Hooper and others, 1997). EI programa NASOAN fue diseiiado para caracterizar las concentraciones y el transporte de sedimento y constituyentes quimicos seleccionados, encontrados en los grandes rios de los Estados Unidos - incluyendo el Misisipi, el Colorado y el Columbia, ademas del Rio Grande. En estas cuatro cuencas, el USGS opera actualmente (1998) una red de 40 puntos de muestreo pertenecientes a NASOAN, con un enfasis en cuantificar el flujo en masa (la cantidad de material que pasa por la estacion, expresado en toneladas por dial para cada constituyente. Aplicacando un enfoque consistente, basado en la cuantificacion de flujos en la cuenca del Rio Grande, el programa NASOAN esta generando la informacion necesaria para identificar fuentes regionales de diversos contaminantes, incluyendo sustancias qui micas agricolas y trazas elementos en la cuenca. EI efecto de las grandes reservas en el Rio Grande se puede observar segun los flujos de constituyentes discurren a 10 largo del rio. EI analisis de los flujos de constituyentes a escala de la cuenca proveera los medios para evaluar la influencia de la actividad humana sobre las condiciones de calidad del agua del Rio Grande.

  20. The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.

    PubMed

    Petersen, Michael B; Grigoriadou, Maria; Koutroumpe, Maria; Kokotas, Haris

    2012-07-01

    Non-syndromic hearing loss is one of the most common hereditary determined diseases in human, and the disease is a genetically heterogeneous disorder. Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of non-syndromic recessive hearing impairment in many countries and are largely dependent on ethnic groups. Due to the high frequency of the c.35delG GJB2 mutation in the Greek population, we have previously suggested that Greek patients with sensorineural, non-syndromic deafness should be tested for the c.35delG mutation and the coding region of the GJB2 gene should be sequenced in c.35delG heterozygotes. Here we present on the clinical and molecular genetic evaluation of a family suffering from prelingual, sensorineural, non-syndromic deafness. A novel c.247_249delTTC (p.F83del) GJB2 mutation was detected in compound heterozygosity with the c.35delG GJB2 mutation in the proband and was later confirmed in the father, while the mother was homozygous for the c.35delG GJB2 mutation. We conclude that compound heterozygosity of the novel c.247_249delTTC (p.F83del) and the c.35delG mutations in the GJB2 gene was the cause of deafness in the proband and his father. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  1. Modelo semi-empírico de protuberancia solar a partir del diagnóstico de densidades

    NASA Astrophysics Data System (ADS)

    Cirigliano, D.; Vial, J. C.; Rovira, M.

    A partir de la observación del espectro del quintuplete de C III alrededor de 1175 Å, se ha realizado el diagnóstico de la densidad y presión electrónica, basado en el cálculo del cociente de las intensidades observadas. Una vez establecida la densidad electrónica, y con el cálculo de las velocidades Doppler, hemos investigado el flujo de masa en la protuberancia en función de la temperatura. Estableciendo como hipótesis la conservación del número de partículas que ingresan y salen del cuerpo de la protuberancia, se investiga la variación del área de un tubo de flujo semi-empírico en función de la temperatura. A partir de dicho diagnóstico, se examina el comportamiento del radio del tubo magnético en función de la temperatura, los que dan cuenta de la abertura de las líneas de campo magnético que confinan el plasma y de la divergencia del campo magnético en diferentes alturas de la atmósfera solar.

  2. Del(20q) in patients with chronic lymphocytic leukemia: a therapy-related abnormality involving lymphoid or myeloid cells.

    PubMed

    Yin, C Cameron; Tang, Guilin; Lu, Gary; Feng, Xiaoli; Keating, Michael J; Medeiros, L Jeffrey; Abruzzo, Lynne V

    2015-08-01

    Deletion 20q (Del(20q)), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. Fluorescence in situ hybridization (FISH) analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 25/64 (39%) cases. In most cases, the leukemic cells showed atypical cytologic features, unmutated IGHV (immunoglobulin heavy-chain variable region) genes, and ZAP70 positivity. The del(20q) was detected only after chemotherapy in all 27 cases with initial karyotypes available. With a median follow-up of 90 months, 30 patients (47%) died, most as a direct consequence of chronic lymphocytic leukemia. Eight patients developed a therapy-related myeloid neoplasm, seven with a complex karyotype. Combined morphologic and FISH analysis for del(20q) performed in 12 cases without morphologic evidence of a myeloid neoplasm localized the del(20q) to the chronic lymphocytic leukemia cells in 5 (42%) cases, and to myeloid/erythroid cells in 7 (58)% cases. The del(20q) was detected in myeloid cells in all 4 cases of myelodysplastic syndrome. In aggregate, these data indicate that chronic lymphocytic leukemia with del(20q) acquired after therapy is heterogeneous. In cases with morphologic evidence of dysplasia, the del(20q) likely resides in the myeloid lineage. However, in cases without morphologic evidence of dysplasia, the del(20q) may represent clonal evolution and disease progression. Combining morphologic analysis with FISH for del(20q) or performing FISH on immunomagnetically selected sub-populations to localize the cell population with this abnormality may help guide patient management.

  3. Del(20q) in patients with chronic lymphocytic leukemia: A therapy-related abnormality involving lymphoid or myeloid cells

    PubMed Central

    Yin, C. Cameron; Tang, Guilin; Lu, Gary; Feng, Xiaoli; Keating, Michael J.; Medeiros, L. Jeffrey; Abruzzo, Lynne V.

    2015-01-01

    Del(20q), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. FISH analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 27/64 (42%) cases. In most cases, the leukemic cells showed atypical cytologic features, unmutated IGHV genes and ZAP70 positivity. The del(20q) was detected only after chemotherapy in all 27 cases with initial karyotypes available. With a median follow-up of 90 months, 30 patients (47%) died, most as a direct consequence of chronic lymphocytic leukemia. Eight patients developed a therapy-related myeloid neoplasm, seven with a complex karyotype. Combined morphologic and FISH analysis for del(20q) performed in 12 cases without morphologic evidence of a myeloid neoplasm localized the del(20q) to the chronic lymphocytic leukemia cells in 5 (42%) cases, and to myeloid/erythroid cells in 7 (58)% cases. The del(20q) was detected in myeloid cells in all 4 cases of myelodysplastic syndrome. In aggregate, these data indicate that chronic lymphocytic leukemia with del(20q) acquired after therapy is heterogeneous. In cases with morphologic evidence of dysplasia, the del(20q) likely resides in the myeloid lineage. However, in cases without morphologic evidence of dysplasia, the del(20q) may represent clonal evolution and disease progression. Combining morphologic analysis with FISH for del(20q) or performing FISH on immunomagnetically-selected subpopulations to localize the cell population with this abnormality may help guide patient management. PMID:25953391

  4. Increasing Naval Security Cooperation between the U.S., Chile and Peru

    DTIC Science & Technology

    2009-03-01

    del Mar: La Marina de Guerra en la historia del Perú (Lima: Marina de Guerra del Perú, 1994), 184. 108 Ibid., 188. 109 Ibid., 191-193. 42 “the...La Marina de Guerra en la historia del Perú, 205. 111 Ibid. 112 Ibid., 210. 113 Ibid., 229. 114 Ibid., 230. 115 Ibid., 246. 43 contributed to...la Puente Brunke, Los Hombres del Mar: La Marina de Guerra en la historia del Perú, 252. 117 Ibid., 264. 118 Ibid., 302. 119 Ibid., 342. 44

  5. Del-1 Expression as a Potential Biomarker in Triple-Negative Early Breast Cancer.

    PubMed

    Lee, Soo Jung; Lee, Jeeyeon; Kim, Wan Wook; Jung, Jin Hyang; Park, Ho Yong; Park, Ji-Young; Chae, Yee Soo

    2018-01-01

    A differential diagnostic role for plasma Del-1 was proposed for early breast cancer (EBC) in our previous study. We examined tumoral Del-1 expression and analyzed its prognostic impact among patients with EBC. Del-1 mRNA expression was assessed in breast epithelial and cancer cells. Meanwhile, the tumoral expression of Del-1 was determined based on tissue microarrays and immunohistochemistry results from 440 patients. While a high Del-1 mRNA expression was found in all the breast cancer cell lines, the expression was significantly higher in MDA-MB-231. Tumoral expression of Del-1 was also significantly associated with a negative expression of estrogen receptor or progesterone receptor, and low expression of Ki-67, particularly in the case of triple-negative breast cancer (TNBC) (p < 0.036). Furthermore, a correlation was found between Del-1 expression and an aggressive histological grade, nuclear mitosis, and polymorphism, suggesting a possible role in tumor progression. In the survival analysis, a worse distant disease-free survival trend was noted for the group overexpressing Del-1. While all the investigated breast cancer cell lines exhibited Del-1 expression, the expression rate and intensity were specifically prominent in TNBC. In addition, based on its relationship to an unfavorable histology and worse survival trend, Del-1 could act as a molecular target in TNBC patients. © 2018 S. Karger AG, Basel.

  6. Characteristics and outcome of myelodysplastic syndromes (MDS) with isolated 20q deletion: a report on 62 cases.

    PubMed

    Braun, Thorsten; de Botton, Stéphane; Taksin, Anne-Laure; Park, Sophie; Beyne-Rauzy, Odile; Coiteux, Valérie; Sapena, Rosa; Lazareth, Anne; Leroux, Geneviève; Guenda, Khaled; Cassinat, Bruno; Fontenay, Michaela; Vey, Norbert; Guerci, Agnès; Dreyfus, François; Bordessoule, Dominique; Stamatoullas, Aspasia; Castaigne, Sylvie; Terré, Christine; Eclache, Virginie; Fenaux, Pierre; Adès, Lionel

    2011-07-01

    Isolated 20q deletion is common in MDS and considered of good prognosis, but no large series have been reported. We compared characteristics of 62 MDS patients with isolated del 20q, 36 patients with del 20q and other cytogenetic abnormalities, and 1335 MDS patients without del20q. Significant differences between MDS with isolated del 20q and patients without del 20q were lower platelet count (mean 144 vs. 196 G/l, p=0.005), lower marrow blast count (mean 3.9% vs. 5.6%, p=0.0008), and higher reticulocyte count (mean 72.5 vs. 51.7 G/l, p=0.04). Ten (16%) patients with isolated del 20q had Hb>12 g/dl and platelets <100 G/l, compared to 7.3% of patients without del 20q (p=0.025). Review of marrow slides of those 10 patients showed that could be readily identified as MDS prior to cytogenetics. Fourteen percent of patients with isolated del 20q progressed to AML compared to 11% with one and 24% with several additional abnormalities. Median survival was 54 months in patients with isolated del 20q, not reached and 12 months for del 20q with one and several additional abnormalities, respectively (p=0.035) confirming the favorable prognosis of del 20q without complex abnormalities. Copyright © 2011 Elsevier Ltd. All rights reserved.

  7. Produccion Gaseosa del Cometa Halley: Erupciones Y Fotodisociacion del Radical OH

    NASA Astrophysics Data System (ADS)

    Silva, A. M.; Mirabel, I. F.

    1990-11-01

    RESUMEN:En este trabajo informamos la detecci6n de 20 erupciones en la li'nea de =18cm (1667MHz) del radical OH en el Cometa Halley.Las observaciones incluyen todos los monitoreos existentes y se extienden desde 120 dias antes del perihelio hasta 90 dias despues.Se detectan bruscos crecimientos en el flujo medido,hasta un factor 1O,seguidos por decaimientos lentos asociados con la fotodisociaci6n del OH. Se obtuvieron valores para el tiempo de vida fotoquimico del OH y del H2O basandose en el modelo desarrollado previamente por Silva(1988). Esos tiempos de vida estan de acuerdo con predicciones teoricas y con las observaciones en el Ultravioleta, y los resultados, los que son fuertemente dependientes de la velocidad heliocentrica del Coineta (variando hasta un factor 6), han sido calculados para varios rangos de velocidad entre +28 y -28 km/seg. Key wo'L :

  8. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Lee, Seung-Hwan; Kim, Dong-Young; Jing, Feifeng

    Developmental endothelial locus-1 (Del-1) is an endogenous anti-inflammatory molecule that is highly expressed in the lung and the brain and limits leukocyte migration to these tissues. We previously reported that the expression of Del-1 is positively regulated by p53 in lung endothelial cells. Although several reports have implicated the altered expression of Del-1 gene in cancer patients, little is known about its role in tumor cells. We here investigated the effect of Del-1 on the features of human lung carcinoma cells. Del-1 mRNA was found to be significantly decreased in the human lung adenocarcinoma cell lines A549 (containing wild typemore » of p53), H1299 (null for p53) and EKVX (mutant p53), compared to in human normal lung epithelial BEAS-2B cells and MRC-5 fibroblasts. The decrease of Del-1 expression was dependent on the p53 activity in the cell lines, but not on the expression of p53. Neither treatment with recombinant human Del-1 protein nor the introduction of adenovirus expressing Del-1 altered the expression of the apoptosis regulators BAX, PUMA and Bcl-2. Unexpectedly, the adenovirus-mediated overexpression of Del-1 gene into the lung carcinoma cell lines promoted proliferation and invasion of the lung carcinoma cells, as revealed by BrdU incorporation and transwell invasion assays, respectively. In addition, overexpression of the Del-1 gene enhanced features of epithelial–mesenchymal transition (EMT), such as increasing vimentin while decreasing E-cadherin in A549 cells, and increases in the level of Slug, an EMT-associated transcription regulator. Our findings demonstrated for the first time that there are deleterious effects of high levels of Del-1 in lung carcinoma cells, and suggest that Del-1 may be used as a diagnostic or prognostic marker for cancer progression, and as a novel therapeutic target for lung carcinoma. - Highlights: • Developmental Endothelial Locus-1 (Del-1) expression is downregulated in human lung cancer cells. • Overexpression of the Del-1 gene potentiates proliferation and invasion of lung carcinoma cells. • Del-1 may be used as a diagnostic or prognostic marker for lung cancer progression.« less

  9. Endogenous developmental endothelial locus-1 limits ischemia-related angiogenesis by blocking inflammation

    PubMed Central

    Klotzsche - von Ameln, Anne; Cremer, Sebastian; Hoffmann, Jedrzej; Schuster, Peggy; Khedr, Sherif; Korovina, Irina; Troulinaki, Maria; Neuwirth, Ales; Sprott, David; Chatzigeorgiou, Antonios; Economopoulou, Matina; Orlandi, Alessia; Hain, Andreas; Zeiher, Andreas M.; Deussen, Andreas; Hajishengallis, George; Dimmeler, Stefanie; Chavakis, Triantafyllos; Chavakis, Emmanouil

    2017-01-01

    We have recently identified endothelial cell-secreted developmental endothelial locus-1 (Del-1) as an endogenous inhibitor of β2-integrin–dependent leukocyte infiltration. Del-1 was previously also implicated in angiogenesis. Here, we addressed the role of endogenously produced Del-1 in ischemia-related angiogenesis. Intriguingly, Del-1–deficient mice displayed increased neovascularization in two independent ischemic models (retinopathy of prematurity and hind-limb ischemia), as compared to Del-1–proficient mice. On the contrary, angiogenic sprouting in vitro or ex vivo (aortic ring assay) and physiological developmental retina angiogenesis were not affected by Del-1 deficiency. Mechanistically, the enhanced ischemic neovascularization in Del-1-deficiency was linked to higher infiltration of the ischemic tissue by CD45+ hematopoietic and immune cells. Moreover, Del-1-deficiency promoted β2-integrin–dependent adhesion of hematopoietic cells to endothelial cells in vitro, and the homing of hematopoietic progenitor cells and of immune cell populations to ischemic muscles in vivo. Consistently, the increased hind limb ischemia-related angiogenesis in Del-1 deficiency was completely reversed in mice lacking both Del-1 and the β2-integrin LFA-1. Additionally, enhanced retinopathy-associated neovascularization in Del-deficient mice was reversed by LFA-1 blockade. Our data reveal a hitherto unrecognized function of endogenous Del-1 as a local inhibitor of ischemia-induced angiogenesis by restraining LFA-1–dependent homing of pro-angiogenic hematopoietic cells to ischemic tissues. Our findings are relevant for the optimization of therapeutic approaches in the context of ischemic diseases. PMID:28447099

  10. Acerca del moho

    EPA Pesticide Factsheets

    El moho forma parte del medio ambiente natural. Afuera del hogar, el moho juega un papel en la naturaleza al desintegrar materias organicas tales como las hojas que se han caido o los arboles muertos. El moho puede crecer adentro del hogar cuando las espor

  11. Misura de Massa e Larghezza degli Stati $$x_1$$ e $$x_2$$ del Charmonio Formati in Interazioni $$p - \\bar{p}$$

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Pallavicini, Marco

    1995-01-01

    Oggetto di questa tesi è la misura di alcune caratteristiche fisiche ( massa, larghezza, e larghezza parziale in p - p) degli stati 3 Pi e 3 A del charmonio, - overo del sistema legato di un quark "charm" e del suo antiquark-, nell'ambito dell'esperimento E-760, installato nell'accumulatore di antiprotoni del Fermilab (U.S.A).

  12. Dissection of Insertion–Deletion Variants within Differentially Expressed Genes Involved in Wood Formation in Populus

    PubMed Central

    Gong, Chenrui; Du, Qingzhang; Xie, Jianbo; Quan, Mingyang; Chen, Beibei; Zhang, Deqiang

    2018-01-01

    Short insertions and deletions (InDels) are one of the major genetic variants and are distributed widely across the genome; however, few investigations of InDels have been conducted in long-lived perennial plants. Here, we employed a combination of RNA-seq and population resequencing to identify InDels within differentially expressed (DE) genes underlying wood formation in a natural population of Populus tomentosa (435 individuals) and utilized InDel-based association mapping to detect the causal variants under additive, dominance, and epistasis underlying growth and wood properties. In the present paper, 5,482 InDels detected from 629 DE genes showed uneven distributions throughout all 19 chromosomes, and 95.9% of these loci were diallelic InDels. Seventy-four InDels (positive false discovery rate q ≤ 0.10) from 68 genes exhibited significant additive/dominant effects on 10 growth and wood-properties, with an average of 14.7% phenotypic variance explained. Potential pleiotropy was observed in one-third of the InDels (representing 24 genes). Seven genes exhibited significantly differential expression among the genotypic classes of associated InDels, indicating possible important roles for these InDels. Epistasis analysis showed that overlapping interacting genes formed unique interconnected networks for each trait, supporting the putative biochemical links that control quantitative traits. Therefore, the identification and utilization of InDels in trees will be recognized as an effective marker system for molecular marker-assisted breeding applications, and further facilitate our understanding of quantitative genomics. PMID:29403506

  13. Radio-Observaciones del OH EN la Coma del Cometa Halley Desde EL Hemisferio Sur

    NASA Astrophysics Data System (ADS)

    Silva, A. M.; Bajaja, E.; Morras, R.; Cersosimo, J. C.; Martin, M. C.; Arnal, E. M.; Poppel, W. G. L.; Colomb, F. R.; Mazzaro, J.; Olalde, J. C.; Boriakoff, V.; Mirabel, I. F.

    1987-05-01

    Se utilizó una antena de 30 metros del Instituto Argentino de Radioastronomía para observaciones diarias Cf ebrero a abril de 1986) de la transición en 1667 MHz ( λ = 18 cm) del OH en la coma del cometa Halley. De las observaciones realizadas se concluye: 1) El número promedio de moléculas de OH en la coma durante 37 días de observación fue de (8.9±3.5)x1034 moléculas, lo que implica una tasa de producción promedio de OH de 1.8x1029 moléculas seg-1 y consecuentemente una pérdida de masa promedio de 17±6 toneladas seg-1 . Este valor está de acuerdo con las mediciones realizadas por las sondas Vega y Giotto. 2) El monitoreo desde el lAR revela la existencia de variaciones bruscas en los flujos de absorción del OH. Estas variaciones son consistentes con los modelos que representan la producción gaseosa a partir de ejecciones y/o desprendimientos discretos de materia congelada del núcleo. 3) Las variaciones en la densidad de flujo son consistentes con las estimaciones de los tiem- pos de vida medios del H2O y del OH en presencia del campo de radiación solar. 4) Se encuentra una correlación entre la intensidad del flujo absorbido y anisotropías en Ia dinamica de la coma.

  14. An evaluation of Delaware's DelTrac program : building an integrated transportation management system

    DOT National Transportation Integrated Search

    2004-06-01

    The DelTrac deployment experience included both successes and unmet challenges. Programmatically, the DelTrac approach to managing ITS has been successful at creating a great deal of integration and cooperation between organizations at DelDOT. Stakeh...

  15. An Annotated Bibliography of Latin American Military Journals.

    DTIC Science & Technology

    1965-12-01

    CABALLERIA Y UNIDADES BLINDADAS) REVISTA DE INFANTERIA REVISTA DE INGENIERIA MILITÄR (Organo de la Academia Politecnica Militär) REVISTA DEL...Appendix--continued ■84- PERU BOLETIN DEL MINISTERIO DE GUERRA Y MARINA (Continued as MEMORIAL DEL EJERCITO) INFANTERIA INGENIERIA REVISTA DEL

  16. Pseudomonas aeruginosa Reduces VX-809 Stimulated F508del-CFTR Chloride Secretion by Airway Epithelial Cells

    PubMed Central

    Stanton, Bruce A.; Coutermarsh, Bonita; Barnaby, Roxanna; Hogan, Deborah

    2015-01-01

    Background P. aeruginosa is an opportunistic pathogen that chronically infects the lungs of 85% of adult patients with Cystic Fibrosis (CF). Previously, we demonstrated that P. aeruginosa reduced wt-CFTR Cl secretion by airway epithelial cells. Recently, a new investigational drug VX-809 has been shown to increase F508del-CFTR Cl secretion in human bronchial epithelial (HBE) cells, and, in combination with VX-770, to increase FEV1 (forced expiratory volume in 1 second) by an average of 3-5% in CF patients homozygous for the F508del-CFTR mutation. We propose that P. aeruginosa infection of CF lungs reduces VX-809 + VX-770- stimulated F508del-CFTR Cl secretion, and thereby reduces the clinical efficacy of VX-809 + VX-770. Methods and Results F508del-CFBE cells and primary cultures of CF-HBE cells (F508del/F508del) were exposed to VX-809 alone or a combination of VX-809 + VX-770 for 48 hours and the effect of P. aeruginosa on F508del-CFTR Cl secretion was measured in Ussing chambers. The effect of VX-809 on F508del-CFTR abundance was measured by cell surface biotinylation and western blot analysis. PAO1, PA14, PAK and 6 clinical isolates of P. aeruginosa (3 mucoid and 3 non-mucoid) significantly reduced drug stimulated F508del-CFTR Cl secretion, and plasma membrane F508del-CFTR. Conclusion The observation that P. aeruginosa reduces VX-809 and VX-809 + VX-770 stimulated F508del CFTR Cl secretion may explain, in part, why VX-809 + VX-770 has modest efficacy in clinical trials. PMID:26018799

  17. Pseudomonas aeruginosa Reduces VX-809 Stimulated F508del-CFTR Chloride Secretion by Airway Epithelial Cells.

    PubMed

    Stanton, Bruce A; Coutermarsh, Bonita; Barnaby, Roxanna; Hogan, Deborah

    2015-01-01

    P. aeruginosa is an opportunistic pathogen that chronically infects the lungs of 85% of adult patients with Cystic Fibrosis (CF). Previously, we demonstrated that P. aeruginosa reduced wt-CFTR Cl secretion by airway epithelial cells. Recently, a new investigational drug VX-809 has been shown to increase F508del-CFTR Cl secretion in human bronchial epithelial (HBE) cells, and, in combination with VX-770, to increase FEV1 (forced expiratory volume in 1 second) by an average of 3-5% in CF patients homozygous for the F508del-CFTR mutation. We propose that P. aeruginosa infection of CF lungs reduces VX-809 + VX-770- stimulated F508del-CFTR Cl secretion, and thereby reduces the clinical efficacy of VX-809 + VX-770. F508del-CFBE cells and primary cultures of CF-HBE cells (F508del/F508del) were exposed to VX-809 alone or a combination of VX-809 + VX-770 for 48 hours and the effect of P. aeruginosa on F508del-CFTR Cl secretion was measured in Ussing chambers. The effect of VX-809 on F508del-CFTR abundance was measured by cell surface biotinylation and western blot analysis. PAO1, PA14, PAK and 6 clinical isolates of P. aeruginosa (3 mucoid and 3 non-mucoid) significantly reduced drug stimulated F508del-CFTR Cl secretion, and plasma membrane F508del-CFTR. The observation that P. aeruginosa reduces VX-809 and VX-809 + VX-770 stimulated F508del CFTR Cl secretion may explain, in part, why VX-809 + VX-770 has modest efficacy in clinical trials.

  18. Efectos combinados de la ampliación de la atención primaria de salud y de las transferencias condicionadas de dinero en efectivo sobre la mortalidad infantil en Brasil, 1998–2010*

    PubMed Central

    Guanais, Frederico C.

    2015-01-01

    Objetivos. Examiné los efectos combinados del acceso a la atención primaria mediante el Programa de Salud Familiar (PSF) y las transferencias condicionadas de dinero en efectivo del Programa Bolsa Familia (PBF) sobre la mortalidad infantil posneonatal (MIPN) en Brasil. Métodos. Empleé un análisis ecológico longitudinal usando datos en panel de 4 583 municipios brasileños de 1998 al 2010, con 54 253 observaciones en total. Estimé modelos de regresión de efectos fijos por mínimos cuadrados ordinarios, con la tasa de MIPN como la variable dependiente y el PSF, el PBF y sus interacciones como las principales variables independientes de interés. Resultados. La asociación de una mayor cobertura del PSF con una menor tasa de MIPN se volvió más fuerte conforme aumentaba la cobertura del PBF. En los promedios de todas las demás variables, cuando la cobertura de PBF era 25%, la MIPN predicha fue 5,24 (intervalo de confianza [IC] de 95% = 4,95, 5,53) para una cobertura del PSF de 0%, y de 3,54 (IC de 95% = 2,77, 4,31) para una cobertura del PSF de 100%. Cuando la cobertura del PBF era de 60%, la MIPN predicha fue 4,65 (IC de 95% = 4,36, 4,94) para una cobertura del PSF de 0%, y de 1,38 (IC de 95% = 0,88, 1,89) para una cobertura del PSF de 100%. Conclusiones. El efecto del PSF depende de la ampliación del PBF. Para las poblaciones empobrecidas y subatendidas, la combinación de intervenciones tanto del lado de la oferta como del lado de la demanda podría ser necesaria para mejorar los resultados en salud.

  19. Analisis del contenido curricular de los Documentos Normativos del Programa de Ciencias en el area de biologia para la escuela superior del sistema de educacion publica de Puerto Rico: 1993-2012

    NASA Astrophysics Data System (ADS)

    Davila Montanez, Melissa

    Esta investigacion de naturaleza cualitativa se ocupo de realizar un analisis de contenido documental de los Documentos Normativos del Programa de Ciencias en el area de biologia de la escuela superior del sistema de educacion publica de Puerto Rico del periodo 1993-2012. Los documentos analizados fueron: Guia Curricular, 1995; Marco Curricular, 2003; Estandares de Excelencia, 1996, 2000 y Estandares de Contenido y Expectativas de Grado, 2007. Se indago si hubo cambios en significados en los Componentes Estructurales: Naturaleza de la ciencia, Paradigmas para la ensenanza de la ciencia, Funcion del curriculo formal, Mision de la ensenanza de la ciencia; Contenidos, destrezas y competencias, Estrategias de ensenanza y Evaluacion/Assessment del aprendizaje. El analisis sugiere que no hubo cambios sustanciales en los significados de los Componentes Estructurales. Los documentos estudiados muestran mayormente caracteristicas similares, aunque los documentos mas recientes eran mas descriptivos, explicativos y especificos.

  20. Increasing the Endoplasmic Reticulum Pool of the F508del Allele of the Cystic Fibrosis Transmembrane Conductance Regulator Leads to Greater Folding Correction by Small Molecule Therapeutics.

    PubMed

    Chung, W Joon; Goeckeler-Fried, Jennifer L; Havasi, Viktoria; Chiang, Annette; Rowe, Steven M; Plyler, Zackery E; Hong, Jeong S; Mazur, Marina; Piazza, Gary A; Keeton, Adam B; White, E Lucile; Rasmussen, Lynn; Weissman, Allan M; Denny, R Aldrin; Brodsky, Jeffrey L; Sorscher, Eric J

    2016-01-01

    Small molecules that correct the folding defects and enhance surface localization of the F508del mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) comprise an important therapeutic strategy for cystic fibrosis lung disease. However, compounds that rescue the F508del mutant protein to wild type (WT) levels have not been identified. In this report, we consider obstacles to obtaining robust and therapeutically relevant levels of F508del CFTR. For example, markedly diminished steady state amounts of F508del CFTR compared to WT CFTR are present in recombinant bronchial epithelial cell lines, even when much higher levels of mutant transcript are present. In human primary airway cells, the paucity of Band B F508del is even more pronounced, although F508del and WT mRNA concentrations are comparable. Therefore, to augment levels of "repairable" F508del CFTR and identify small molecules that then correct this pool, we developed compound library screening protocols based on automated protein detection. First, cell-based imaging measurements were used to semi-quantitatively estimate distribution of F508del CFTR by high content analysis of two-dimensional images. We evaluated ~2,000 known bioactive compounds from the NIH Roadmap Molecular Libraries Small Molecule Repository in a pilot screen and identified agents that increase the F508del protein pool. Second, we analyzed ~10,000 compounds representing diverse chemical scaffolds for effects on total CFTR expression using a multi-plate fluorescence protocol and describe compounds that promote F508del maturation. Together, our findings demonstrate proof of principle that agents identified in this fashion can augment the level of endoplasmic reticulum (ER) resident "Band B" F508del CFTR suitable for pharmacologic correction. As further evidence in support of this strategy, PYR-41-a compound that inhibits the E1 ubiquitin activating enzyme-was shown to synergistically enhance F508del rescue by C18, a small molecule corrector. Our combined results indicate that increasing the levels of ER-localized CFTR available for repair provides a novel route to correct F508del CFTR.

  1. An experiment of formation of charmoni states in annihilation P-Pbarra. Un esperimento di formazione di stati del charmonio in annichilazione P-Pbarra (in Italian)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Pallavicini, Marco

    1995-01-01

    Oggetto di questa tesi e la misura di alcune caratteristiche fisiche (massa, larghezza, e larghezza parziale in p -more » $$\\bar{p}$$) degli stati 3P 1 e 3P 2 del charmonio, -ovvero del sistema legato di un quark "charm" e del suo antiquark-, nell'amito dell'esperimento E-760, installato nell'accumulatore di antiprotoni del Fermilab.« less

  2. Regulation and Function of TIFAB in Myelodysplastic Syndrome

    DTIC Science & Technology

    2013-06-01

    genomic alteration in MDS is deletion of chromosome 5q (del(5q)). MDS patients with an isolated del(5q) presenting with anemia, neutropenia , and...is deletion of chromosome 5q (del(5q)). MDS patients with an isolated del(5q) presenting with anemia, neutropenia , and elevated platelets associated

  3. Kurt Gödels Brünner Verwandte

    NASA Astrophysics Data System (ADS)

    Müller, Dora

    2007-11-01

    The author of this memoir Dora Müller (born 1920) belongs - as well as Kurt Gödel-to the German minority playing an important role in the past life of Brno. The marriage of his son included her among the Gödels collaterals. She was chemist, but also pianist, historician, participant of antinacist movement and iniciator of Czech-German understanding after war. Following her personal experiences, remembrances of Gödels relatives and documental materials, she evokes the atmosphere of broader family milieu of Kurt Gödel.

  4. Resolving the Orientation of Cylinders and Cuboids from Projected Area Measurements

    DTIC Science & Technology

    2016-05-01

    fabs ( e1 ) + Ay * fabs ( e2...Az * fabs ( e3 ) - A_xy; 90 g = Ax * fabs ( e4 ) + Ay * fabs ( e5 ) + Az * fabs ( e6 ) - A_xz; 91 h = Ax * fabs ( e7 ) + Ay * fabs ( e8 ) + Az * fabs ( e9...b23 * h; 128 del_r = b31 * f + b32 * g + b33 * h; 129 130 p -= del_p; 131 y -= del_y; 132 r -= del_r; 133 134 if ( fabs ( del_p ) < TOL && fabs (

  5. Systematically frameshifting by deletion of every 4th or 4th and 5th nucleotides during mitochondrial transcription: RNA self-hybridization regulates delRNA expression.

    PubMed

    Seligmann, Hervé

    2016-01-01

    In mitochondria, secondary structures punctuate post-transcriptional RNA processing. Recently described transcripts match the human mitogenome after systematic deletions of every 4th, respectively every 4th and 5th nucleotides, called delRNAs. Here I explore predicted stem-loop hairpin formation by delRNAs, and their associations with delRNA transcription and detected peptides matching their translation. Despite missing 25, respectively 40% of the nucleotides in the original sequence, del-transformed sequences form significantly more secondary structures than corresponding randomly shuffled sequences, indicating biological function, independently of, and in combination with, previously detected delRNA and thereof translated peptides. Self-hybridization decreases delRNA abundances, indicating downregulation. Systematic deletions of the human mitogenome reveal new, unsuspected coding and structural informations. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  6. F-35 Force Development Evaluation and Weapons School Beddown Environmental Impact Statement

    DTIC Science & Technology

    2011-05-01

    deficiencias encontradas después del despliegue del sistema; ♦ explora medios no materiales (por ejemplo, tácticas) para satisfacer requisitos...del adecuado desempeño del avión en combate al proporcionar entrenamiento, información sobre las capacidades operativas y nuevos requisitos. Además

  7. Perk Ablation Ameliorates Myelination in S63del-Charcot–Marie–Tooth 1B Neuropathy

    PubMed Central

    Musner, Nicolò; Sidoli, Mariapaola; Zambroni, Desireè; Del Carro, Ubaldo; Ungaro, Daniela; D’Antonio, Maurizio; Feltri, Maria L.

    2016-01-01

    In peripheral nerves, P0 glycoprotein accounts for more than 20% of myelin protein content. P0 is synthesized by Schwann cells, processed in the endoplasmic reticulum (ER) and enters the secretory pathway. However, the mutant P0 with S63 deleted (P0S63del) accumulates in the ER lumen and induces a demyelinating neuropathy in Charcot–Marie–Tooth disease type 1B (CMT1B)–S63del mice. Accumulation of P0S63del in the ER triggers a persistent unfolded protein response. Protein kinase RNA-like endoplasmic reticulum kinase (PERK) is an ER stress sensor that phosphorylates eukaryotic initiation factor 2 alpha (eIF2alpha) in order to attenuate protein synthesis. We have shown that increasing phosphophorylated-eIF2alpha (P-eIF2alpha) is a potent therapeutic strategy, improving myelination and motor function in S63del mice. Here, we explore the converse experiment: Perk haploinsufficiency reduces P-eIF2alpha in S63del nerves as expected, but surprisingly, ameliorates, rather than worsens S63del neuropathy. Motor performance and myelin abnormalities improved in S63del//Perk+/− compared with S63del mice. These data suggest that mechanisms other than protein translation might be involved in CMT1B/S63del neuropathy. In addition, Perk deficiency in other cells may contribute to demyelination in a non–Schwann-cell autonomous manner. PMID:27095827

  8. The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes

    PubMed Central

    McGraw, K L; Zhang, L M; Rollison, D E; Basiorka, A A; Fulp, W; Rawal, B; Jerez, A; Billingsley, D L; Lin, H-Y; Kurtin, S E; Yoder, S; Zhang, Y; Guinta, K; Mallo, M; Solé, F; Calasanz, M J; Cervera, J; Such, E; González, T; Nevill, T J; Haferlach, T; Smith, A E; Kulasekararaj, A; Mufti, G; Karsan, A; Maciejewski, J P; Sokol, L; Epling-Burnette, P K; Wei, S; List, A F

    2015-01-01

    Nonsynonymous TP53 exon 4 single-nucleotide polymorphism (SNP), R72P, is linked to cancer and mutagen susceptibility. R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. Myelodysplastic syndrome (MDS) with chromosome 5q deletion is characterized by erythroid hypoplasia arising from lineage-specific p53 accumulation resulting from ribosomal insufficiency. We hypothesized that apoptotically diminished R72P C-allele may influence predisposition to del(5q) MDS. Bone marrow and blood DNA was sequenced from 705 MDS cases (333 del(5q), 372 non-del(5q)) and 157 controls. Genotype distribution did not significantly differ between del(5q) cases (12.6% CC, 38.1% CG, 49.2% GG), non-del(5q) cases (9.7% CC, 44.6% CG, 45.7% GG) and controls (7.6% CC, 37.6% CG, 54.8% GG) (P=0.13). Allele frequency did not differ between non-del(5q) and del(5q) cases (P=0.91) but trended towards increased C-allele frequency comparing non-del(5q) (P=0.08) and del(5q) (P=0.10) cases with controls. Median lenalidomide response duration increased proportionate to C-allele dosage in del(5q) patients (2.2 (CC), 1.3 (CG) and 0.89 years (GG)). Furthermore, C-allele homozygosity in del(5q) was associated with prolonged overall and progression-free survival and non-terminal interstitial deletions that excluded 5q34, whereas G-allele homozygozity was associated with inferior outcome and terminal deletions involving 5q34 (P=0.05). These findings comprise the largest MDS R72P SNP analysis. PMID:25768405

  9. PubMed

    Martínez Carrión, José Miguel; Cámara, Antonio D; Pérez-Castroviejo, Pedro María

    2016-12-12

    Objetivo: analizar la geografía del estado nutricional en España y su evolución entre mediados del siglo xixy comienzos del siglo xx, etapa previa a la transición nutricional con alta prevalencia de malnutrición.Métodos: se utilizan datos antropométricos agregados (promedios provinciales de estatura) del reclutamiento militar en 1858 y 1913, así como promedios provinciales de estatura y peso procedentes de una revisión realizada entre 119.571 soldados en 1903-1906. Con estos datos se elaboran cartografía y estadísticos descriptivos.Resultados: los parámetros antropométricos de los españoles se situaban entre los valores de complexión más bajos de Europa antes de la transición nutricional. Entre 1858 y 1913, la altura media creció solo 1,43 cm. En ese periodo hubo cambios significativos en la geografía antropométrica marcados por la configuración de una polaridad nutricional a las puertas de la I Guerra Mundial: las provincias del centro y del sur de país exhiben mayor incidencia de la malnutrición crónica que las provincias del arco Noreste, que disfrutan de ventaja relativa en términos nutricionales.Conclusión:las desigualdades territoriales que configuraron una geografía polarizada del estado nutricional en España pueden asociarse en parte a los cambios ambientales del periodo, caracterizados por el inicio de la modernización y la industrialización y, asimismo, por la privación derivada de las crisis agrarias, las enfermedades y el relativo atraso tecnológico. Se destaca la relevancia de la historia antropométrica para el estudio de los niveles de vida en poblaciones del pasado y del proceso de transición nutricional.

  10. Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

    PubMed

    Dusatkova, Petra; Pfäffle, Roland; Brown, Milton R; Akulevich, Natallia; Arnhold, Ivo J P; Kalina, Maria A; Kot, Karolina; Krzisnik, Ciril; Lemos, Manuel C; Malikova, Jana; Navardauskaite, Ruta; Obermannova, Barbora; Pribilincova, Zuzana; Sallai, Agnes; Stipancic, Gordana; Verkauskiene, Rasa; Cinek, Ondrej; Blum, Werner F; Parks, John S; Austerlitz, Frederic; Lebl, Jan

    2016-03-01

    Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or c.[150delA];[150delA] or c.[301_302delAG];[ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations--a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants--c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1-116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1-29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2-17.0) and 16.4 (14.4-20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4-52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants.

  11. Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

    PubMed Central

    Dusatkova, Petra; Pfäffle, Roland; Brown, Milton R; Akulevich, Natallia; Arnhold, Ivo JP; Kalina, Maria A; Kot, Karolina; Krzisnik, Ciril; Lemos, Manuel C; Malikova, Jana; Navardauskaite, Ruta; Obermannova, Barbora; Pribilincova, Zuzana; Sallai, Agnes; Stipancic, Gordana; Verkauskiene, Rasa; Cinek, Ondrej; Blum, Werner F; Parks, John S; Austerlitz, Frederic; Lebl, Jan

    2016-01-01

    Two variants (c.[301_302delAG][301_302delAG] and c.[150delA][150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG][301_302delAG] or c.[150delA][150delA] or c.[301_302delAG][ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations – a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants – c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1–116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1–29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2–17.0) and 16.4 (14.4–20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4–52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants. PMID:26059845

  12. La utilizacion de los mapas conceptuales en la ensenanza de biologia y su efecto sobre el dominio del proceso de fotosintesis en los estudiantes universitarios

    NASA Astrophysics Data System (ADS)

    Gonzalez Rivera, Maria M.

    Se investigo el efecto de los mapas conceptuales sobre el dominio del proceso de fotosintesis en estudiantes universitarios. La investigacion utilizo dos estrategias: mapas conceptuales individuales y mapas conceptuales colaborativos, con el fin de investigar si existen diferencias significativas en el dominio del proceso de fotosintesis. El analisis de los datos incluyo aspectos cualitativos y cuantitativos. Se desprende del estudio que el 80% de los estudiantes describen la utilizacion de los mapas conceptuales como una experiencia beneficiosa. El 70% de los estudiantes expreso que los mapas conceptuales son utiles en el aprendizaje del proceso de fotosintesis y el 61% indico que facilitan la comprension de los conceptos. Los hallazgos mas importantes del analisis cuantitativo indican que los estudiantes que utilizaron los mapas conceptuales mejoraron significativamente su desempeno en la posprueba global. Se utilizo la prueba Mann-Whitney para investigar si existian diferencias significativas en la posprueba y preprueba global, el valor de W = 1945.0, para un valor p de 0.00, lo cual establece diferencias significativas. Para determinar si existian diferencias significativas entre la posprueba y preprueba del grupo individual, se realizo la prueba nuevamente. El valor de W correspondio a 490.5, que es significativo, con un valor p de 0.00. Se concluye que existen diferencias significativas entre la ejecucion de la posprueba y preprueba del grupo individual. Los datos proveen suficiente evidencia para sostener que los estudiantes que utilizaron la estrategia de mapas conceptuales individuales mejoraron el dominio del proceso de fotosintesis significativamente. Se realizo nuevamente la prueba para los resultados de posprueba y preprueba del grupo colaborativo. El valor de W correspondio a 446 con un valor p de 0.00. Se concluyo que existen diferencias significativas entre la ejecucion de la posprueba y preprueba del grupo colaborativo. Finalmente, se efectuo una prueba Mann-Whitney comparando la posprueba de ambos grupos. El valor de W fue de a 777, para un valor p de 0.2782. Aunque las puntuaciones de las pospruebas del grupo colaborativo fueron mayores que las puntuaciones de la posprueba del grupo individual, la diferencia no fue estadisticamente significativa.

  13. Association of methylenetetrahydrofolate reductase (MTHFR 677C>T) and thymidylate synthase (TSER and TS 1494del6) polymorphisms with premature ovarian failure in Korean women.

    PubMed

    Rah, HyungChul; Jeon, Young Joo; Choi, Youngsok; Shim, Sung Han; Yoon, Tae Ki; Choi, Dong Hee; Cha, Sun Hee; Kim, Nam Keun

    2012-11-01

    The aim of our study was to investigate whether methylenetetrahydrofolate reductase (MTHFR) gene variant (MTHFR 677C>T) and thymidylate synthase (TS) gene variants (TS enhancer region [TSER] and TS 1494del6) confer a risk for premature ovarian failure (POF). We genotyped 136 POF patients and 236 controls among Korean women for the three single nucleotide polymorphism sites using polymerase chain reaction restriction fragment length polymorphism analysis. Differences in the MTHFR 677C>T, TSER, and TS 1494del6 genotype frequencies between POF patients and controls were compared, and odds ratios (ORs) and 95% CIs were determined as a measure of the strength of the association between genotypes and POF. The MTHFR 677CT and CT + TT variant genotypes were more frequent in POF patients than in controls (OR, 2.249; 95% CI, 1.317-3.843; and OR, 2.132; 95% CI, 1.268-3.585, respectively). The combined genotype frequencies of MTHFR 677CT + TT/TSER 3R3R and 677CT + TT/TS 1494del6 del6/del6 were higher in patients than in controls (OR, 2.300; 95% CI, 1.219-4.337; and OR, 3.314; 95% CI, 1.623-6.767, respectively). The T-3R-del6 and T-2R-del6 (MTHFR 677C>T/TSER/TS 1494del6) haplotypes were more frequent in patients (OR, 1.450; 95% CI, 1.050-2.002; and OR, 2.911; 95% CI, 1.191-7.117, respectively), whereas the C-2R-del6 haplotype was less frequent in patients (OR, 0.372; 95% CI, 0.152-0.912). The T-del6 (MTHFR 677/TS 1494del6) haplotype frequency was higher among patients (OR, 1.653; 95% CI, 1.206-2.266), whereas the C-del6 haplotype frequency was lower among patients (OR, 0.700; 95% CI, 0.516-0.950). We did not find an association between TSER or TS 1494del6 polymorphisms and POF. Our data suggest that the MTHFR 677T allele may increase the risk for POF, which could lead to the development of novel genetic markers for predicting the risk of POF in patients.

  14. Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications.

    PubMed

    Muranen, Taru A; Greco, Dario; Fagerholm, Rainer; Kilpivaara, Outi; Kämpjärvi, Kati; Aittomäki, Kristiina; Blomqvist, Carl; Heikkilä, Päivi; Borg, Ake; Nevanlinna, Heli

    2011-09-20

    Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. In total, 126 breast tumor tissue specimens including 32 samples from patients carrying CHEK2 1100delC were studied in array-comparative genomic hybridization (aCGH) and gene-expression (GEX) experiments. After dimensionality reduction with CGHregions R package, CHEK2 1100delC-associated regions in the aCGH data were detected by the Wilcoxon rank-sum test. The linear model was fitted to GEX data with R package limma. Genes whose expression levels were associated with CHEK2 1100delC mutation were detected by the bayesian method. We discovered four lost and three gained CHEK2 1100delC-related loci. These include losses of 1p13.3-31.3, 8p21.1-2, 8p23.1-2, and 17p12-13.1 as well as gains of 12q13.11-3, 16p13.3, and 19p13.3. Twenty-eight genes located on these regions showed differential expression between CHEK2 1100delC and other tumors, nominating them as candidates for CHEK2 1100delC-associated tumor-progression drivers. These included CLCA1 on 1p22 as well as CALCOCO1, SBEM, and LRP1 on 12q13. Altogether, 188 genes were differentially expressed between CHEK2 1100delC and other tumors. Of these, 144 had elevated and 44, reduced expression levels.Our results suggest the WNT pathway as a driver of tumorigenesis in breast tumors of CHEK2 1100delC-mutation carriers and a role for the olfactory receptor protein family in cancer progression. Differences in the expression of the 188 CHEK2 1100delC-associated genes divided breast tumor samples from three independent datasets into two groups that differed in their relapse-free survival time. We have shown that copy-number aberrations of certain genomic regions are associated with CHEK2 mutation 1100delC. On these regions, we identified potential drivers of CHEK2 1100delC-associated tumorigenesis, whose role in cancer progression is worth investigating. Furthermore, poorer survival related to the CHEK2 1100delC gene-expression signature highlights pathways that are likely to have a role in the development of metastatic disease in carriers of the CHEK2 1100delC mutation.

  15. Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications

    PubMed Central

    2011-01-01

    Introduction Checkpoint kinase 2 (CHEK2) is a moderate penetrance breast cancer risk gene, whose truncating mutation 1100delC increases the risk about twofold. We investigated gene copy-number aberrations and gene-expression profiles that are typical for breast tumors of CHEK2 1100delC-mutation carriers. Methods In total, 126 breast tumor tissue specimens including 32 samples from patients carrying CHEK2 1100delC were studied in array-comparative genomic hybridization (aCGH) and gene-expression (GEX) experiments. After dimensionality reduction with CGHregions R package, CHEK2 1100delC-associated regions in the aCGH data were detected by the Wilcoxon rank-sum test. The linear model was fitted to GEX data with R package limma. Genes whose expression levels were associated with CHEK2 1100delC mutation were detected by the bayesian method. Results We discovered four lost and three gained CHEK2 1100delC-related loci. These include losses of 1p13.3-31.3, 8p21.1-2, 8p23.1-2, and 17p12-13.1 as well as gains of 12q13.11-3, 16p13.3, and 19p13.3. Twenty-eight genes located on these regions showed differential expression between CHEK2 1100delC and other tumors, nominating them as candidates for CHEK2 1100delC-associated tumor-progression drivers. These included CLCA1 on 1p22 as well as CALCOCO1, SBEM, and LRP1 on 12q13. Altogether, 188 genes were differentially expressed between CHEK2 1100delC and other tumors. Of these, 144 had elevated and 44, reduced expression levels. Our results suggest the WNT pathway as a driver of tumorigenesis in breast tumors of CHEK2 1100delC-mutation carriers and a role for the olfactory receptor protein family in cancer progression. Differences in the expression of the 188 CHEK2 1100delC-associated genes divided breast tumor samples from three independent datasets into two groups that differed in their relapse-free survival time. Conclusions We have shown that copy-number aberrations of certain genomic regions are associated with CHEK2 mutation 1100delC. On these regions, we identified potential drivers of CHEK2 1100delC-associated tumorigenesis, whose role in cancer progression is worth investigating. Furthermore, poorer survival related to the CHEK2 1100delC gene-expression signature highlights pathways that are likely to have a role in the development of metastatic disease in carriers of the CHEK2 1100delC mutation. PMID:21542898

  16. Recent advances on the encoding and selection methods of DNA-encoded chemical library.

    PubMed

    Shi, Bingbing; Zhou, Yu; Huang, Yiran; Zhang, Jianfu; Li, Xiaoyu

    2017-02-01

    DNA-encoded chemical library (DEL) has emerged as a powerful and versatile tool for ligand discovery in chemical biology research and in drug discovery. Encoding and selection methods are two of the most important technological aspects of DEL that can dictate the performance and utilities of DELs. In this digest, we have summarized recent advances on the encoding and selection strategies of DEL and also discussed the latest developments on DNA-encoded dynamic library, a new frontier in DEL research. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer

    PubMed Central

    Huijts, Petra EA; Hollestelle, Antoinette; Balliu, Brunilda; Houwing-Duistermaat, Jeanine J; Meijers, Caro M; Blom, Jannet C; Ozturk, Bahar; Krol-Warmerdam, Elly MM; Wijnen, Juul; Berns, Els MJJ; Martens, John WM; Seynaeve, Caroline; Kiemeney, Lambertus A; van der Heijden, Henricus F; Tollenaar, Rob AEM; Devilee, Peter; van Asperen, Christi J

    2014-01-01

    The 1100delC mutation in the CHEK2 gene has a carrier frequency of up to 1.5% in individuals from North-West Europe. Women heterozygous for 1100delC have an increased breast cancer risk (odds ratio 2.7). To explore the prevalence and clinical consequences of 1100delC homozygosity in the Netherlands, we genotyped a sporadic breast cancer hospital-based cohort, a group of non-BRCA1/2 breast cancer families, and breast tumors from a tumor tissue bank. Three 1100delC homozygous patients were found in the cohort of 1434 sporadic breast cancer patients, suggesting an increased breast cancer risk for 1100delC homozygotes (odds ratio 3.4, 95% confidence interval 0.4–32.6, P=0.3). Another 1100delC homozygote was found in 592 individuals from 108 non-BRCA1/2 breast cancer families, and two more were found after testing 1706 breast tumors and confirming homozygosity on their wild-type DNA. Follow-up data was available for five homozygous patients, and remarkably, three of them had developed contralateral breast cancer. A possible relationship between 1100delC and lung cancer risk was investigated in 457 unrelated lung cancer patients but could not be confirmed. Due to the small number of 1100delC homozygotes identified, the breast cancer risk estimate associated with this genotype had limited accuracy but is probably higher than the risk in heterozygous females. Screening for CHEK2 1100delC could be beneficial in countries with a relatively high allele frequency. PMID:23652375

  18. The -2549 insertion/deletion polymorphism in the promoter region of VEGF is associated with the risk of recurrent spontaneous abortion.

    PubMed

    Hashemi, Mohammad; Danesh, Hiva; Bizhani, Fatemeh; Mokhtari, Mojgan; Bahari, Gholamreza; Tabasi, Farhad; Taheri, Mohsen

    2018-03-01

    Recurrent spontaneous abortion (RSA) is a common health problem affecting women of reproductive age. Altered expression of vascular endothelial growth factor ( VEGF ) has been associated with spontaneous abortion. The present case-control study aimed to evaluate the impact of the 18-bp insertion/deletion (ins/del) polymorphism (rs35569394) in the promoter region of the VEGF gene on idiopathic RSA. Genomic DNA from 93 patients with RSA and 93 healthy fertile women of southeastern Iran was isolated using the salting-out method. Genotyping of the rs35569394 variant was performed by a polymerase chain reaction (PCR) method. The findings indicated that the VEGF 18-bp ins/del variant significantly increased the risk of RSA under codominant (ins/ins vs. del/del; OR=2.85, 95% CI=1.31-6.22, P=0.019), dominant (del/ins+ins/ins vs. del/del; OR=2.19, 95% CI=1.20-4.01, P=0.015) and allelic (ins vs. del; OR=1.90, 95% CI=1.25-2.88, P=0.003) inheritance models. In summary, the findings propose a significant association between the VEGF 18-bp ins/del polymorphism and risk of RSA in a sample of the southeast Iranian population. Further studies on larger sample sizes and different ethnicities are required to validate the present findings.

  19. Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

    PubMed

    Bello, Luca; Campadello, Paola; Barp, Andrea; Fanin, Marina; Semplicini, Claudio; Sorarù, Gianni; Caumo, Luca; Calore, Chiara; Angelini, Corrado; Pegoraro, Elena

    2016-09-01

    We performed a 1-year longitudinal study of Six Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and timed function tests in Becker muscular dystrophy (BMD). Skeletal muscle dystrophin was quantified by immunoblot. We grouped deletions ending on exon 45 ("del 45-x", n = 28) or 51 ("del x-51", n = 10); isolated exon 48 deletion ("del 48", n = 10); and other mutations (n = 21). Only patients in the "del 45-x" or "other" groups became non-ambulatory (n = 5, log-rank p = n.s.) or unable to run (n = 22, p < 0.001). All measures correlated positively with dystrophin quantity and negatively with age, and were significantly more impaired in the "del 45-x" and "other" groups. After one year, NSAA score decreased significantly (-0.9 ± 1.6, p < 0.001); in the "del 45-x" group, both NSAA (-1.3 ± 1.7, p = 0.001) and 6MWT (-12 ± 31 m, p = 0.059) decreased. We conclude that patients with "del x-51" or "del 48" mutations have mild or asymptomatic BMD, while "del 45-x" mutations cause comparatively severe weakness, and functional deterioration in 1 year. Furthermore, exon 51 skipping could be more effective than exon 45 skipping in Duchenne muscular dystrophy.

  20. Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.

    PubMed

    Nagel, Jord H A; Peeters, Justine K; Smid, Marcel; Sieuwerts, Anieta M; Wasielewski, Marijke; de Weerd, Vanja; Trapman-Jansen, Anita M A C; van den Ouweland, Ans; Brüggenwirth, Hennie; van I Jcken, Wilfred F J; Klijn, Jan G M; van der Spek, Peter J; Foekens, John A; Martens, John W M; Schutte, Mieke; Meijers-Heijboer, Hanne

    2012-04-01

    CHEK2 1100delC is a moderate-risk cancer susceptibility allele that confers a high breast cancer risk in a polygenic setting. Gene expression profiling of CHEK2 1100delC breast cancers may reveal clues to the nature of the polygenic CHEK2 model and its genes involved. Here, we report global gene expression profiles of a cohort of 155 familial breast cancers, including 26 CHEK2 1100delC mutant tumors. In line with previous work, all CHEK2 1100delC mutant tumors clustered among the hormone receptor-positive breast cancers. In the hormone receptor-positive subset, a 40-gene CHEK2 signature was subsequently defined that significantly associated with CHEK2 1100delC breast cancers. The identification of a CHEK2 gene signature implies an unexpected biological homogeneity among the CHEK2 1100delC breast cancers. In addition, all 26 CHEK2 1100delC tumors classified as luminal intrinsic subtype breast cancers, with 8 luminal A and 18 luminal B tumors. This biological make-up of CHEK2 1100delC breast cancers suggests that a relatively limited number of additional susceptibility alleles are involved in the polygenic CHEK2 model. Identification of these as-yet-unknown susceptibility alleles should be aided by clues from the 40-gene CHEK2 signature.

  1. Unidades del paisaje de Puerto Rico: la influencia del clima, el substrato y la topografia

    Treesearch

    William Gould; Michael E. Jimenez; Gary Potts; Maya Quinones; Sebastian Martinuzzi

    2008-01-01

    El mapa de unidades del paisaje de Puerto Rico representa variaciones climaticas, topograficas y del substrato mediante la integracion de seis zonas climaticas (Ewel y Whitmore, 1973), seis substratos (Bawiec, 2001; USGS, 2005), cinco posiciones topograficas, o topoformas (Martinuzzi et al. 2007), y cuerpos de agua (USGS 2005). Los substratos representan el conjunto...

  2. Extracorporeal membrane oxygenation in children with heart disease and del22q11 syndrome: a review of the Extracorporeal Life Support Organization Registry.

    PubMed

    Prodhan, P; Gossett, J M; Rycus, P T; Gupta, P

    2015-11-01

    The study objective was to evaluate outcomes among children with del22q11 (DiGeorge) syndrome supported on ECMO for heart disease. The ELSO registry database was queried to include all children <18 years undergoing heart surgery for either common atrio-ventricular canal, tetralogy of Fallot, truncus arteriosus or transposition of the great vessels and interrupted aortic arch and requiring ECMO, from 1998-2011. The outcomes evaluated included mortality, ECMO duration and length of hospital stay in patients with del22q11 syndrome and with no del22q11 syndrome. Eighty-eight ECMO runs occurred in children with del22q11 syndrome while 2694 ECMO runs occurred in children without del22q11 syndrome. For patients with heart defects receiving ECMO, del22q11 syndrome did not confer a significant mortality risk or an increased risk of infectious complications before or while on ECMO support. Neither the duration of ECMO nor mechanical ventilation prior to ECMO deployment were prolonged in patients with del22q11 syndrome compared to the controls. © The Author(s) 2015.

  3. Percepcion de los profesores universitarios acerca del concepto cultura cientifica y de sus implicaciones en el nuevo bachillerato del Recinto de Rio Piedras de la Universidad de Puerto Rico

    NASA Astrophysics Data System (ADS)

    Ramos Pastrana, Nilsa

    El Senado Academico del Recinto de Rio Piedras de la Universidad de Puerto Rico aprobo en el ano academico 2005-2006 la Certificacion 46, que contiene los lineamientos de un nuevo bachillerato. Este nuevo bachillerato introdujo cambios significativos en el curriculo tradicional. Entre ellos se encuentra la reduccion del componente de educacion general y el de Ciencias Biologicas en particular. La reduccion de creditos en el componente de Ciencias Biologicas ha obligado a reevaluar el concepto de cultura cientifica que desarrollan esos cursos. El proposito del estudio consistio en auscultar las percepciones de los profesores de las Facultades de Administracion de Empresas, Humanidades, Ciencias Sociales, Ciencias Naturales, Educacion y Estudios Generales del Recinto de Rio Piedras de la Universidad de Puerto Rico en torno al concepto de cultura cientifica, los contenidos disciplinares del curso de Ciencias Biologicas y la reduccion de creditos en el nuevo bachillerato. Las preguntas que guiaron la investigacion fueron: ¿cuales son las percepciones que tienen los profesores de las Facultades de Administracion de Empresas, Ciencias Sociales, Estudios Generales, Ciencias Naturales, Humanidades y Educacion, en torno al concepto de cultura cientifica y los contenidos disciplinares del curso de Ciencias Biologicas? ¿cuales son las percepciones que tienen los profesores de Ciencias Biologicas en torno al concepto cultura cientifica y los contenidos disciplinares del curso de Ciencias Biologicas? ¿existen diferencias significativas por facultad, genero, experiencia, rango y nombramiento en las percepciones que tienen los profesores del Recinto de Rio Piedras de la Universidad de Puerto Rico sobre los elementos que caracterizan la cultura cientifica y los contenidos biologicos que deben tener los egresados del Recinto? ¿que implicaciones curriculares tienen estos testimonios en el desarrollo del concepto de cultura cientifica en el nuevo bachillerato? Para realizar la investigacion se utilizo una metodologia cuantitativa y la herramienta para lograrlo fue una encuesta. La encuesta se analizo estadisticamente mediante analisis de frecuencias y por cientos, prueba ANOVA, prueba t, pruebas Post Hoc de Tukey y de Levene. Tambien se realizo nuevamente una prueba de confiabilidad mediante el alfa de Cronbach. Los resultados reflejaron que los profesores de las Facultades de Administracion de Empresas, Ciencias Sociales, Ciencias Naturales, Educacion, Humanidades, Estudios Generales y el Departamento de Ciencias Biologicas tienen una percepcion muy positiva del concepto de cultura cientifica, los contenidos curriculares de Ciencias Biologicas y del nuevo bachillerato.

  4. Interstitial 13q14 deletions detected in the karyotype and translocations with concomitant deletion at 13q14 in chronic lymphocytic leukemia: different genetic mechanisms but equivalent poorer clinical outcome.

    PubMed

    Puiggros, Anna; Venturas, Marta; Salido, Marta; Blanco, Gonzalo; Fernandez-Rodriguez, Concepción; Collado, Rosa; Valiente, Alberto; Ruiz-Xivillé, Neus; Carrió, Ana; Ortuño, Francisco José; Luño, Elisa; Calasanz, María José; Ardanaz, María Teresa; Piñán, María Ángeles; Talavera, Elisabet; González, María Teresa; Ortega, Margarita; Marugán, Isabel; Ferrer, Ana; Gimeno, Eva; Bellosillo, Beatriz; Delgado, Julio; Hernández, José Ángel; Hernández-Rivas, Jesús María; Espinet, Blanca

    2014-09-01

    Deletion of 13q14 as the sole abnormality is a good prognostic marker in chronic lymphocytic leukemia (CLL). Nonetheless, the prognostic value of reciprocal 13q14 translocations [t(13q)] with related 13q losses has not been fully elucidated. We described clinical and biological characteristics of 25 CLL patients with t(13q), and compared with 62 patients carrying interstitial del(13q) by conventional G-banding cytogenetics (CGC) [i-del(13q)] and 295 patients with del(13q) only detected by fluorescence in situ hybridization (FISH) [F-del(13q)]. Besides from the CLL FISH panel (D13S319, CEP12, ATM, TP53), we studied RB1 deletions in all t(13q) cases and a representative group of i-del(13q) and F-del(13q). We analyzed NOTCH1, SF3B1, and MYD88 mutations in t(13q) cases by Sanger sequencing. In all, 25 distinct t(13q) were described. All these cases showed D13S319 deletion while 32% also lost RB1. The median percentage of 13q-deleted nuclei did not differ from i-del(13q) patients (73% vs. 64%), but both were significantly higher than F-del(13q) (52%, P < 0.001). Moreover, t(13q) patients showed an increased incidence of biallelic del(13q) (52% vs. 11.3% and 14.9%, P < 0.001) and higher rates of concomitant 17p deletion (37.5% vs. 8.6% and 7.2%, P < 0.001). RB1 involvement was significantly higher in the i-del(13q) group (79%, P < 0.001). Two t(13q) patients (11.8%) carried NOTCH1 mutations. Time to first treatment in t(13q) and i-del(13q) was shorter than F-del(13q) (67, 44, and 137 months, P = 0.029), and preserved significance in the multivariate analysis. In conclusion, t(13q) and del(13q) patients detected by CGC constitute a subgroup within the 13q-deleted CLL patients associated with a worse clinical outcome. © 2014 Wiley Periodicals, Inc.

  5. El Alcalde José Carlos Aponte Dalmau del Municipio de Carolina es nombrado a formar parte del Comité Asesor de Gobiernos Locales de la EPA a nivel de todos los Estados Unidos

    EPA Pesticide Factsheets

    Comunicado de prensa de la EPA: El Alcalde José Carlos Aponte Dalmau del Municipio de Carolina es nombrado a formar parte del Comité Asesor de Gobiernos Locales de la EPA a nivel de todos los Estados Unidos

  6. Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases.

    PubMed

    Adank, Muriel A; Verhoef, Senno; Oldenburg, Rogier A; Schmidt, Marjanka K; Hooning, Maartje J; Martens, John W M; Broeks, Annegien; Rookus, Matti; Waisfisz, Quinten; Witte, Birgit I; Jonker, Marianne A; Meijers-Heijboer, Hanne

    2013-05-01

    The CHEK2∗1100delC mutation confers a relative risk of two for breast cancer (BC) in the general population. This study aims to explore the excess cancer risk due to the CHEK2∗1100delC mutation within a familial non-BRCA1/2 breast cancer setting. Cancer incidences were compared between first degree relatives of 107 familial breast cancer patients positive for the CHEK2∗1100delC mutation (CHEK2 positive families) and first degree relatives of 314 familial breast cancer patients without the CHEK2∗1100delC mutation (CHEK2 negative families). All families were derived from the same pool of familial non-BRCA1/2 breast cancer families (n=2554). Medical information of 2188 first degree relatives of these families was analysed for cancer risk. CHEK2∗1100delC status of relatives was unknown. Increased breast cancer risk (hazard ratio (HR) 2.0 (95% confidence interval (CI): 1.4-2.7), p<0.001) was observed in sisters of CHEK2∗1100delC positive index cases compared to sisters of CHEK2∗1100delC negative index cases. HR was 1.6 (95% CI: 1.0-2.4) for mothers of CHEK2 positive versus negative index cases (p=0.041). For second primary breast cancers HR was increased in CHEK2∗1100delC positive index cases (HR 2.1, 95% CI: 1.3-3.3, p=0.003) and their sisters (HR 2.6, 95% CI: 1.1-6.1, p=0.025). There is an excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive non-BRCA1/2 familial breast cancer patients compared to non-CHEK2∗1100delC familial breast cancer relatives. Genotyping for the CHEK2∗1100delC mutation in a familial breast cancer setting contributes to optimal clinical surveillance in countries in which this mutation is prevalent. Carriers and female relatives are eligible for stringent breast surveillance programs. Copyright © 2013 Elsevier Ltd. All rights reserved.

  7. Two Small Molecules Restore Stability to a Subpopulation of the Cystic Fibrosis Transmembrane Conductance Regulator with the Predominant Disease-causing Mutation.

    PubMed

    Meng, Xin; Wang, Yiting; Wang, Xiaomeng; Wrennall, Joe A; Rimington, Tracy L; Li, Hongyu; Cai, Zhiwei; Ford, Robert C; Sheppard, David N

    2017-03-03

    Cystic fibrosis (CF) is caused by mutations that disrupt the plasma membrane expression, stability, and function of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl - channel. Two small molecules, the CFTR corrector lumacaftor and the potentiator ivacaftor, are now used clinically to treat CF, although some studies suggest that they have counteracting effects on CFTR stability. Here, we investigated the impact of these compounds on the instability of F508del-CFTR, the most common CF mutation. To study individual CFTR Cl - channels, we performed single-channel recording, whereas to assess entire CFTR populations, we used purified CFTR proteins and macroscopic CFTR Cl - currents. At 37 °C, low temperature-rescued F508del-CFTR more rapidly lost function in cell-free membrane patches and showed altered channel gating and current flow through open channels. Compared with purified wild-type CFTR, the full-length F508del-CFTR was about 10 °C less thermostable. Lumacaftor partially stabilized purified full-length F508del-CFTR and slightly delayed deactivation of individual F508del-CFTR Cl - channels. By contrast, ivacaftor further destabilized full-length F508del-CFTR and accelerated channel deactivation. Chronic (prolonged) co-incubation of F508del-CFTR-expressing cells with lumacaftor and ivacaftor deactivated macroscopic F508del-CFTR Cl - currents. However, at the single-channel level, chronic co-incubation greatly increased F508del-CFTR channel activity and temporal stability in most, but not all, cell-free membrane patches. We conclude that chronic lumacaftor and ivacaftor co-treatment restores stability in a small subpopulation of F508del-CFTR Cl - channels but that the majority remain destabilized. A fuller understanding of these effects and the characterization of the small F508del-CFTR subpopulation might be crucial for CF therapy development. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

  8. BIM deletion polymorphisms in Hispanic patients with non-small cell lung cancer carriers of EGFR mutations

    PubMed Central

    Carranza, Hernán; Vargas, Carlos; Otero, Jorge; Corrales-Rodriguez, Luis; Martín, Claudio; Reguart, Noemí; Archila, Pilar; Rodríguez, July; Cuello, Mauricio; Ortíz, Carlos; Franco, Sandra; Rolfo, Christian; Rosell, Rafael

    2016-01-01

    Background Germline alterations in the proapoptotic protein Bcl-2-like 11 (BIM) can have a crucial role in diverse tumors. To determine the clinical utility of detecting BIM deletion polymorphisms (par4226 bp/ par363 bp) in EGFR positive non-small-cell lung cancer (NSCLC) we examined the outcomes of patients with and without BIM alterations. Results BIM deletion was present in 14 patients (15.7%). There were no significant differences between patients with and without BIM-del in clinical characteristics or EGFR mutation type; however, those with BIM-del had a worse overall response rate (ORR) to erlotinib (42.9% vs. 73.3% in patients without BIM-del; p=0.024) as well as a significantly shorter progression-free survival (PFS) (10.8 BIM-del+ vs. 21.7 months for patients without BIM-del; p=0.029) and overall survival (OS) (15.5 BIM-del+ vs. 34.0 months for patients without BIM-del; p=0.035). Multivariate Cox regression analysis showed that BIM-del+ was an independent indicator of shorter PFS (HR 3.0; 95%CI 1.2-7.6; p=0.01) and OS (HR 3.4; 95%CI 1.4-8.3; p=0.006). Methods We studied 89 NSCLC Hispanic patients with EGFR mutation who were treated with erlotinib between January 2009 and November 2014. BIM deletion polymorphisms (BIM-del) was analyzed by PCR in formalin-fixed paraffin-embedded (FFPE) tissues of tumor biopsies. We retrospectively analyzed clinical characteristics, response rate, toxicity, and outcomes among patients with and without BIM-del. Conclusions The incidence of BIM-del found in Hispanic patients is similar to that previously described in Asia. This alteration is associated with a poor clinical response to erlotinib and represents an independent prognostic factor for patients who had NSCLC with an EGFR mutation. PMID:27926478

  9. BIM deletion polymorphisms in Hispanic patients with non-small cell lung cancer carriers of EGFR mutations.

    PubMed

    Cardona, Andrés F; Rojas, Leonardo; Wills, Beatriz; Arrieta, Oscar; Carranza, Hernán; Vargas, Carlos; Otero, Jorge; Corrales-Rodriguez, Luis; Martín, Claudio; Reguart, Noemí; Archila, Pilar; Rodríguez, July; Cuello, Mauricio; Ortíz, Carlos; Franco, Sandra; Rolfo, Christian; Rosell, Rafael; on behalf of the CLICaP

    2016-09-19

    Germline alterations in the proapoptotic protein Bcl-2-like 11 (BIM) can have a crucial role in diverse tumors. To determine the clinical utility of detecting BIM deletion polymorphisms (par4226 bp/ par363 bp) in EGFR positive non-small-cell lung cancer (NSCLC) we examined the outcomes of patients with and without BIM alterations. BIM deletion was present in 14 patients (15.7%). There were no significant differences between patients with and without BIM-del in clinical characteristics or EGFR mutation type; however, those with BIM-del had a worse overall response rate (ORR) to erlotinib (42.9% vs. 73.3% in patients without BIM-del; p=0.024) as well as a significantly shorter progression-free survival (PFS) (10.8 BIM-del+ vs. 21.7 months for patients without BIM-del; p=0.029) and overall survival (OS) (15.5 BIM-del+ vs. 34.0 months for patients without BIM-del; p=0.035). Multivariate Cox regression analysis showed that BIM-del+ was an independent indicator of shorter PFS (HR 3.0; 95%CI 1.2-7.6; p=0.01) and OS (HR 3.4; 95%CI 1.4-8.3; p=0.006). We studied 89 NSCLC Hispanic patients with EGFR mutation who were treated with erlotinib between January 2009 and November 2014. BIM deletion polymorphisms (BIM-del) was analyzed by PCR in formalin-fixed paraffin-embedded (FFPE) tissues of tumor biopsies. We retrospectively analyzed clinical characteristics, response rate, toxicity, and outcomes among patients with and without BIM-del. The incidence of BIM-del found in Hispanic patients is similar to that previously described in Asia. This alteration is associated with a poor clinical response to erlotinib and represents an independent prognostic factor for patients who had NSCLC with an EGFR mutation.

  10. El uso de la neuromodulación para el tratamiento del temblor

    PubMed Central

    Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio

    2014-01-01

    Introducción: El temblor puede ser un desorden incapacitante y el tratamiento de primera línea para estos pacientes es farmacológico. Sin embargo, este tratamiento puede llevar a una reducción satisfactoria del temblor en sólo el 50% de los pacientes con temblor esencial. La talamotomía era el tratamiento de elección para el temblor refractario al tratamiento médico hasta que comenzó a utilizarse la estimulación cerebral profunda (ECP) del núcleo ventral intermedio (Vim) del tálamo. En la actualidad, raramente se realiza la talamotomía. Métodos: Este artículo es una revisión no sistemática de las indicaciones, resultados, parámetros de programación y técnica quirúrgica de la ECP del Vim para el tratamiento del temblor. Resultados: Aunque los resultados clínicos son similares usando la talamotomía o la ECP del Vim, la primera causa más efectos adversos que la última. Además, la ECP puede ser usada bilateralmente, mientras que la talamotomía tiene un alto riesgo de causar disartria cuando se realiza de ambos lados. La ECP del Vim logró una adecuada mejoría del temblor en varias series de pacientes con temblor causado por temblor esencial, enfermedad de Parkinson o esclerosis múltiple. Además del Vim, hay otros blancos que están siendo usados por varios autores, tales como la zona incerta y las radiaciones prelemniscales. Conclusión: La ECP del Vim es un tratamiento útil para el temblor incapacitante refractario al tratamiento médico. Es esencial realizar una precisa selección de pacientes, así como utilizar una técnica quirúrgica correcta. Aún se desconoce el mejor blanco estereotáctico para el temblor, aunque el Vim es el más usado. PMID:25165613

  11. Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.

    PubMed

    Natsuga, Ken; Nishie, Wataru; Shinkuma, Satoru; Nakamura, Hideki; Matsushima, Yoichiro; Tatsuta, Aya; Komine, Mayumi; Shimizu, Hiroshi

    2011-01-01

    Kindler syndrome (KS) is a rare, inherited skin disease characterized by blister formation and generalized poikiloderma. Mutations in KIND1, which encodes kindlin-1, are responsible for KS. c.1089del/1089+1del is a recurrent splice-site deletion mutation in KS patients. To elucidate the effects of c.1089del/1089+1del at the mRNA and protein level. Two KS patients with c.1089del/1089+1del were included in this study. Immunofluorescence analysis of KS skin samples using antibodies against the dermo-epidermal junction proteins was performed. Exon-trapping experiments were performed to isolate the mRNA sequences transcribed from genomic DNA harbouring c.1089del/1089+1del. β1 integrin activation in HeLa cells transfected with truncated KIND1 cDNA was analyzed. Immunofluorescence study showed positive expression of kindlin-1 in KS skin with c.1089del/1089+1del mutation. We identified the exon-8-skipped in-frame transcript as the main product among multiple splicing variants derived from that mutation. HeLa cells transfected with KIND1 cDNA without exon 8 showed impaired β1 integrin activation. Exon-8-coding amino acids are located in the FERM F2 domain, which is conserved among species, and the unstructured region between F2 and the pleckstrin homology domain. This study suggests that exon-8-skipped truncated kindlin-1 is functionally defective and does not compensate for the defects of KS, even though kindlin-1 expression in skin is positive. Copyright © 2010 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

  12. Max Brödel: his art, legacy, and contributions to neurosurgery through medical illustration.

    PubMed

    Patel, Smruti K; Couldwell, William T; Liu, James K

    2011-07-01

    Max Brödel is considered the father of modern medical illustration. This report reviews his contributions to neurosurgery as a medical illustrator. Max Brödel, a young artist from Leipzig, Germany, was hired at Johns Hopkins Hospital in 1894, where he illustrated an operative textbook of gynecology for Howard A. Kelly. Although Brödel did not have any formal medical training, he quickly acquired knowledge of anatomy, pathology, physiology, and surgery. Brödel's extraordinary illustrations were characterized by an aerial perspective that conveyed the surgeon's operative viewpoint and precise surgical anatomy. He masterfully incorporated tissue realism with cross-sectional anatomy to accentuate concepts while maintaining topographical accuracy. Brödel's reputation spread quickly and resulted in collaborations with prominent surgeons, such as Cushing, Halsted, and Dandy. Cushing, who also possessed artistic talent, became a pupil of Brödel and remained a very close friend. In 1911, Brödel was appointed the director of the Department of Art as Applied to Medicine at Johns Hopkins, the first academic department of its kind in the world. For the next several decades, he trained generations of renowned medical illustrators. Just as Osler, Halsted, and Cushing passed their skills and knowledge to future leaders of medicine and surgery, Brödel did the same for the field of medical illustration. The advancement of neurosurgical education has been greatly facilitated by Max Brödel's artistic contributions. His unique ability to synthesize art and medicine resulted in timeless illustrations that remain indispensable to surgeons. The art produced by his legacy of illustrators continues to flourish in neurosurgical literature today.

  13. Doping test results dependent on genotype of uridine diphospho-glucuronosyl transferase 2B17, the major enzyme for testosterone glucuronidation.

    PubMed

    Schulze, Jenny Jakobsson; Lundmark, Jonas; Garle, Mats; Skilving, Ilona; Ekström, Lena; Rane, Anders

    2008-07-01

    Testosterone abuse is conventionally assessed by the urinary testosterone/epitestosterone (T/E) ratio, levels above 4.0 being considered suspicious. The large variation in testosterone glucuronide (TG) excretion and its strong association with a deletion polymorphism in the uridine diphospho-glucuronosyl transferase (UGT) 2B17 gene challenge the accuracy of the T/E ratio test. Our objective was to investigate whether genotype-based cutoff values will improve the sensitivity and specificity of the test. This was an open three-armed comparative study. A total of 55 healthy male volunteers with either two, one, or no allele [insertion/insertion, insertion/deletion, or deletion/deletion (del/del)] of the UGT2B17 gene was included in the study. A single im dose of 500 mg testosterone enanthate was administered. Urinary excretion of TG after dose and the T/E ratio during 15 d were calculated. The degree and rate of increase in the TG excretion rate were highly dependent on the UGT2B17 genotype with a 20-fold higher average maximum increase in the insertion/insertion group compared with the del/del group. Of the del/del subjects, 40% never reached the T/E ratio of 4.0 on any of the 15 d after the dose. When differentiated cutoff levels for the del/del (1.0) and the other genotypes (6.0) were applied, the sensitivity increased substantially for the del/del group, and false positives in the other genotypes were eliminated. Consideration of the genetic variation in disposition of androgens will improve the sensitivity and specificity of the testosterone doping test. This is of interest not only for combating androgen doping in sports, but also for detecting and preventing androgen abuse in society.

  14. Lack of effect of the alpha2C-adrenoceptor Del322-325 polymorphism on inhibition of cyclic AMP production in HEK293 cells.

    PubMed

    Montgomery, M D; Bylund, D B

    2010-02-01

    The alpha(2C)-adrenoceptor has multiple functions, including inhibiting release of noradrenaline from presynaptic nerve terminals. A human alpha(2C) polymorphism, Del322-325, a potential risk factor for heart failure, has been reported to exhibit reduced signalling in CHO cells. To further understand the role of the Del322-325 polymorphism on receptor signalling, we attempted to replicate and further study the reduced signalling in HEK293 cells. Human alpha(2C) wild-type (WT) and Del322-325 adrenoceptors were stably transfected into HEK293 cells. Radioligand binding was performed to determine affinities for both receptors. In intact cells, inhibition of forskolin-stimulated cyclic AMP production by WT and Del322-325 clones with a range of receptor densities (200-2320 fmol.mg(-1) protein) was measured following agonist treatment. Noradrenaline, brimonidine and clonidine exhibited similar binding affinities for WT and Del322-325. Brimonidine and clonidine also had similar efficacies and potencies for both receptors for the inhibition of cyclic AMP production at all receptor densities tested. A linear regression analysis comparing efficacy and potency with receptor expression levels showed no differences in slopes between WT and Del322-325. The alpha(2C) WT and Del322-325 adrenoceptors exhibited similar binding properties. Additionally, inhibition of cyclic AMP production by Del322-325 was similar to that of WT over a range of receptor densities. Therefore, in intact HEK293 cells, the alpha(2C)-Del322-325 polymorphism does not exhibit reduced signalling to adenylyl cyclase and may not represent a clinically important phenotype.

  15. [Not Available].

    PubMed

    Cruz-Sáez, María Soledad; Pascual Jimeno, Aitziber; Wlodarczyk, Anna; Polo-López, Rocío; Echeburúa Odriozola, Enrique

    2016-07-19

    Introducción: los problemas relacionados con el peso constituyen un problema importante de salud pública debido a su alta prevalencia y a las adversas consecuencias que tienen para la salud.Objetivo: el objetivo principal de este estudio fue analizar si la depresión y la ansiedad tienen un papel mediador en la relación entre la insatisfacción corporal y las conductas de control del peso en chicas adolescentes con sobrepeso.Material y métodos: en el estudio participaron 140 mujeres de 16 a 20 años con sobrepeso. Las participantes tuvieron que cumplimentar la escala de insatisfacción corporal del EDI-2, las escalas de ansiedad y depresión del GHQ-28 y una adaptación de las escalas del EAT survey para evaluar las conductas de control del peso. Para los análisis estadísticos se utilizaron métodos de diferencias de medias, correlaciones y de mediación secuencial.Resultados: las adolescentes con sobrepeso y alta insatisfacción corporal presentaban más sintomatología ansiosa y depresiva, así como mayor cantidad de conductas de control del peso. Los resultados del análisis de mediación secuencial evidencian que el efecto de la insatisfacción corporal en las conductas de control del peso está parcialmente mediado por las variables depresión y ansiedad. Mientras que la sintomatología ansiosa presenta efectos directos e indirectos sobre las conductas de control de peso, la sintomatología depresiva solamente presenta un efecto indirecto.Conclusiones:los resultados del estudio destacan el rol mediador de la sintomatología depresiva y, especialmente, de la ansiedad en el desarrollo de conductas no saludables de control del peso.

  16. Mirror Coronograph for Argentina (MICA). Primera Luz

    NASA Astrophysics Data System (ADS)

    Stenborg, G.; Epple, A.; Schwenn, R.; Francile, C.; Rovira, M.

    En Julio de 1997 se terminó con la primera parte de la instalación del ``Coronógrafo de Espejo para la Argentina'' en la estación de altura Carlos U. Cesco (El Leoncito), gracias al esfuerzo de la gente del Max Planck Institut für Aeronomie (Alemania), del OAFA y del IAFE. Dicho coronógrafo forma parte de un programa de ciencia bilateral entre Alemania y Argentina. El propósito del mismo, en conjunción con otros telescopios solares y terrestres, es contribuir a un mejor entendimiento de cuestiones fundamentales de la física solar. Para ello, ya está observando la corona de emisión en el verde (Fe XIV), rojo (Fe X) y Hα entre 1.05 y 2 radios solares aproximadamente. El diseño del instrumento, el cual fuera ya presentado en esta misma reunión en La Plata en 1996, es esencialmente similar al del telescopio LASCO-C1 a bordo del Solar Heliospheric Observatory (SOHO). La adquisición de datos se realiza con un CCD de 1280x1024 pixels, codificando en 12 bits, pudiendo ser el mismo operado en forma remota. En esta reunión presentaremos algunas de las observaciones realizadas durante la puesta a punto del instrumento en el período julio-setiembre de 1997. Asimismo expondremos cómo y por qué sus resultados complementarán a los de su par en el espacio.

  17. Efecto del Programa de Entrenamiento “Manejo del Dolor” en la Documentación de Enfermería en el Expediente Electrónico

    PubMed Central

    Monsiváis, María Guadalupe Moreno; Guzmán, Ma. Guadalupe Interial; Flores, Paz Francisco Sauceda; Arreola, Leticia Vázquez

    2012-01-01

    Resumen En el presente trabajo se muestra la importancia de entrenar al personal de enfermería para mejorar la documentación en el expediente electrónico. Se eligió el manejo del dolor por ser un área prioritaria; una alta proporción de pacientes en período post operatorio cursa con dolor, por lo tanto, la documentación debe ser útil para la toma de decisiones clínicas. Se implementó un programa de entrenamiento denominado “Manejo del Dolor” dirigido al personal de enfermería. Se utilizó la tecnología de la información como herramienta para fortalecer el conocimiento con base en la revisión sistemática de la literatura; el personal de enfermería participante seleccionó la mejor evidencia; posteriormente se trabajó en la transferencia de este conocimiento a la práctica a través del diseño de un protocolo para el manejo del dolor. Se concluye que el conocimiento del manejo del dolor es fundamental para que enfermería documente con mayor precisión sus intervenciones. PMID:24199106

  18. [Not Available].

    PubMed

    Fernández Castillo, Rafael; Cañadas de la Fuente, Gustavo R; Cañadas de la Fuente, Guillermo A; De la Fuente Solana, Emilia Inmaculada; Esteban de la Rosa, Rafael José; Bravo Soto, Juan

    2016-07-19

    Introducción: la obesidad y el sobrepeso presentan efectos adversos sobre la salud, lo que contribuye a la aparición de enfermedades metabólicas y cardiovasculares que ponen en peligro la integridad del injerto.Objetivo: investigar la influencia del IMC pretrasplante renal sobre el funcionamiento del injerto renal al año de trasplante mediante el estudio de cuatro métodos distintos de medir la filtración glomerular.Material y métodos: en este trabajo se ha seguido a 1.336 pacientes de ambos sexos trasplantados renales; se les realizaron mediciones pretrasplante y postrasplante de parámetros bioquímicos, mediciones antropométricas y función renal mediante medidas de filtrado glomerular.Resultados: a mayor índice de masa corporal pretrasplante se produce una disminución del filtrado glomerular medido por cuatro métodos distintos, así como mayor porcentaje de rechazos.Conclusiones: un IMC elevado pretrasplante contribuye a la disfunción del injerto, a una disminución del filtrado glomerular y a complicaciones del injerto en el primer año postrasplante.

  19. Espectroscopia del Cometa Halley

    NASA Astrophysics Data System (ADS)

    Naranjo, O.; Fuenmayor, F.; Ferrin, L.; Bulka, P.; Mendoza, C.

    1987-05-01

    Se reportan observaciones espectroscópicas del cometa Halley. Los espectros fueron tomados usando el espectrógrafo del telescopio reflector de 1 metro del Observatorio Nacional de Venezuela. Se utilizó óptica azul, con una red de difracción de 600 lineas/min, obteniéndose una dispersión de 74.2 A/mm y una resolución de 2.5 A, en el rango espectral de 3500 a 6500 A. Seis placas fueron tomadas con emulsión IIa-O y dos con IIa-D. Los tiempos de exposición fueron entre 10 y 150 minutos. El cometa se encontraba entre 0.70 y 1.04 UA del Sol, y entre 1.28 y 0.73 UA de la Tierra. Las emisiones más prominentes en el espectro, son las del CN, C2, y C3. Otras emisiones detectadas corresponden a CH, NH2 y Na. Los espectros muestran un fuerte continuo, indicando un contenido significativo de polvo. Se detectó mayor intensidad del contínuo, en la dirección anti solar, lo cual es evidencia de la cola de polvo.

  20. Impacto del Seguro Popular en el gasto catastrófico y de bolsillo en el México rural y urbano, 2005–2008

    PubMed Central

    Sosa-Rubí, Sandra G; Salinas-Rodríguez, Aarón; Galárraga, Omar

    2016-01-01

    Objetivo Estimar el efecto del Seguro Popular (SP) sobre la incidencia del gasto catastrófico en salud (GCS) y sobre el gasto de bolsillo en salud (GBS) en el mediano plazo. Material y métodos Con base en la Encuesta de Evaluación del Seguro Popular (2005–2008), se analizaron los resultados del efecto del SP en la cohorte rural para dos años de seguimiento (2006 y 2008) y en la cohorte urbana para un año (2008). Resultados A nivel conglomerado no se detectaron efectos del SP. A nivel hogar se encontró que el SP tiene un efecto protector en el GCS y en el GBS en consulta externa y hospitalización en zonas rurales; y efectos significativos en la reducción de GBS en consulta externa en zonas urbanas. Conclusiones El SP se muestra como un programa efectivo para proteger a los hogares contra gastos de bolsillo por motivos de salud en el mediano plazo. PMID:22282205

  1. [Trattamento del disturbo da uso di alcol da un punto di vista psicologico].

    PubMed

    Coriale, Giovanna; Fiorentino, Daniela; De Rosa, Francesca; Solombrino, Simona; Scalese, Bruna; Ciccarelli, Rosaria; Attilia, Fabio; Vitali, Mario; Musetti, Alessia; Fiore, Marco; Ceccanti, Mauro

    2018-01-01

    RIASSUNTO. L'elaborazione del piano di trattamento rappresenta un momento molto delicato e complesso del processo terapeutico del disturbo da abuso di alcol (DUA). È la fase in cui le informazioni raccolte da un'équipe di professionisti (medici, psicologi e assistenti sociali) (modello bio-psico-sociale del DUA) vengono messe insieme per decidere il percorso terapeutico più adatto. Per quanto riguarda la parte psicologica, è di notevole importanza scegliere un trattamento clinico in grado di ridurre al minimo la mancata adesione al trattamento e, per i soggetti che rimangono in trattamento, di garantirne l'efficacia. Se da una parte, le tecniche psicoanalitiche e comportamentali hanno fornito le basi della terapia psicologica dell'alcolismo, dall'altra, gli approcci basati sull'evidenza scientifica sono stati elaborati a partire dai principi del colloquio motivazionale e della terapia cognitivo-comportamentale. In questo articolo viene fornita una panoramica dei trattamenti che sono risultati più efficaci nel trattare il DUA e delle modalità temporali più adeguate per monitorare l'efficacia del trattamento.

  2. CHEK2 1100delC and male breast cancer in the Netherlands.

    PubMed

    Wasielewski, Marijke; den Bakker, Michael A; van den Ouweland, Ans; Meijer-van Gelder, Marion E; Portengen, Henk; Klijn, Jan G M; Meijers-Heijboer, Hanne; Foekens, John A; Schutte, Mieke

    2009-07-01

    Mutations in the breast cancer susceptibility genes BRCA1, BRCA2, and CHEK2 are known risk factors for female breast cancer. Mutations in BRCA1 and BRCA2 also are associated with male breast cancer (MBC). Similarly, it had been suggested in the original CHEK2 identification report that the CHEK2 1100delC mutation confers an increased risk for MBC. Here, we have evaluated the risk of CHEK2 1100delC for MBC by genotyping CHEK2 1100delC in 23 familial and 71 unselected Dutch MBC cases. None of the 23 familial MBC cases carried the CHEK2 1100delC mutation. In contrast, CHEK2 1100delC was present in 3 of the 71 (4.2%) unselected MBC cases, which was significantly more prevalent than the 1.1% Dutch population frequency assessed in 1,692 individuals (P = 0.05, OR = 4.1, 95% CI 1.2-14.3). Our data suggest that, in the Netherlands, CHEK2 1100delC is associated with an increased risk for MBC.

  3. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

    PubMed

    Batissoco, Ana Carla; Abreu-Silva, Ronaldo Serafim; Braga, Maria Cristina Célia; Lezirovitz, Karina; Della-Rosa, Valter; Alfredo, Tabith; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia

    2009-02-01

    Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness. Aiming at establishing the frequencies of GJB2 mutations and GJB6 deletions in the Brazilian population, we screened 300 unrelated individuals with hearing impairment, who were not affected by known deafness related syndromes. We firstly screened the most frequently reported mutations, c.35delG and c.167delT in the GJB2 gene, and del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene, through specific techniques. The detected c.35delG and c.167delT mutations were validated by sequencing. Other mutations in the GJB2 gene were screened by single-strand conformation polymorphism and the coding region was sequenced when abnormal patterns were found. Pathogenic mutations in GJB2 and GJB6 genes were detected in 41 individuals (13.7%), and 80.5% (33/41) presented these mutations in homozygosis or compound heterozygosis, thus explaining their hearing defect. The c.35delG in the GJB2 gene was the most frequent mutation (37/300; 12.4%), detected in 23% familial and 6.2% the sporadic cases. The second most frequent mutation (1%; 3/300) was the del(GJB6-D13S1830), always found associated with the c.35delG mutation. Nineteen different sequence variations were found in the GJB2 gene. In addition to the c.35delG mutation, nine known pathogenic alterations were detected c.167delT, p.Trp24X, p.Val37Ile, c.176_191del16, c.235delC, p.Leu90Pro, p.Arg127His, c.509insA, and p.Arg184Pro. Five substitutions had been previously considered benign polymorphisms: c.-15C>T, p.Val27Ile, p.Met34Thr, p.Ala40Ala, and p.Gly160Ser. Two previously reported mutations of unknown pathogenicity were found (p.Lys168Arg, and c.684C>A), and two novel substitutions, p.Leu81Val (c.G241C) and p.Met195Val (c.A583G), both in heterozygosis without an accompanying mutation in the other allele. None of these latter four variants of undefined status was present in a sample of 100 hearing controls. The present study demonstrates that mutations in the GJB2 gene and del(GJB6 D13S1830) are important causes of hearing impairment in Brazil, thus justifying their screening in a routine basis. The diversity of variants in our sample reflects the ethnic heterogeneity of the Brazilian population.

  4. Sistema Planeta-Satélite. Simulación orbital y potenciales gravitatorios

    NASA Astrophysics Data System (ADS)

    Medina, C.; Carrillo, M.

    Se presenta un programa (desarrollado en Quick Basic 4.5) que simula, en tres dimensiones, el movimiento orbital de un satélite (o luna) alrededor de un planeta, al tiempo que calcula y grafica, en un plano, el potencial gravitatorio del sistema en función de la distancia al planeta. Para la simulación orbital, se emplea la matriz de transformación entre el sistema del planeta y el plano orbital. Para el cálculo y graficación del potencial se aplica un desarrollo en serie hasta el segundo orden, que da cuenta del efecto de achatamiento de los polos, en caso de que éste exista. Las longitudes de los ejes del planeta, la masa de éste y del satélite, sus tamaños aparentes, y los parámetros orbitales son introducidos por el usuario.

  5. International Celestial Reference Frame (ICRF): mantenimiento y extensión

    NASA Astrophysics Data System (ADS)

    Ma, C.; Arias, E. F.; Eubanks, T.; Fey, A. L.; Gontier, A.-M.; Jacobs, C. S.; Sovers, O. J.; Archinal, B. A.; Charlot, P.

    A partir de enero de 1998 el sistema de referencia celeste convencional está representado por el International Celestial Reference System (ICRS) y materializado a través de las coordenadas VLBI del conjunto de radiofuentes extragalácticas que conforman el International Celestial Reference Frame (ICRF). La primera realización del ICRF, fue elaborada en 1995 por un grupo de expertos designado por la IAU, la que encomendó al International Earth Rotation Service el mantenimiento del ICRS, del ICRF y del vínculo con marcos de referencia en otras frecuencias. Una primera extensión del ICRF se realizó entre abril y junio de 1999, con el objetivo primario de proveer posiciones de radiofuentes extragalácticas observadas a partir de julio de 1995 y de mejorar las posiciones de las fuentes ``candidatas" con la inclusión de observaciones adicionales. Objetivos secundarios fueron monitorear a las radiofuentes para verificar que siguen siendo adecuadas para realizar al ICRF y mejorar las técnicas de análisis de datos. Como resultado del nuevo análisis se obtuvo una solución a partir de la cual se construyó la primera extensión del ICRF, denominada ICRF - Ext.1. Ella representa al ICRS, sus fuentes de definición se mantienen con las mismas posiciones y errores que en la primera realización del ICRF; las demás radiofuentes tienen coordenadas mejor determinadas que en ICRF; el marco de referencia se densificó con el agregado de 59 nuevas radiofuentes.

  6. Estimaciones de Prevalencia del VIH por Género y Grupo de Riesgo en Tijuana, México: 2006

    PubMed Central

    Iñiguez-Stevens, Esmeralda; Brouwer, Kimberly C.; Hogg, Robert S.; Patterson, Thomas L.; Lozada, Remedios; Magis-Rodriguez, Carlos; Elder, John P.; Viani, Rolando M.; Strathdee, Steffanie A.

    2010-01-01

    OBJETIVO Estimar la prevalencia del VIH en adultos de 15-49 años de edad en Tijuana, México - en la población general y en subgrupos de riesgo en el 2006. METODOS Se obtuvieron datos demográficos del censo Mexicano del 2005, y la prevalencia del VIH se obtuvo de la literatura. Se construyó un modelo de prevalencia del VIH para la población general y de acuerdo al género. El análisis de sensibilidad consistió en estimar errores estándar del promedio-ponderado de la prevalencia del VIH y tomar derivados parciales con respecto a cada parámetro. RESULTADOS La prevalencia del VIH es 0.54%(N = 4,347) (Rango: 0.22%–0.86%, (N = 1,750–6,944)). Esto sugiere que 0.85%(Rango: 0.39%–1.31%) de los hombres y 0.22%(Rango: 0.04%–0.40%) de las mujeres podrían ser VIH-positivos. Los hombres que tienen sexo con hombres (HSH), las trabajadoras sexuales usuarias de drogas inyectables (MTS-UDI), MTS-noUDI, mujeres UDI, y los hombres UDI contribuyeron las proporciones más elevadas de personas infectadas por el VIH. CONCLUSIONES El número de adultos VIH-positivos entre subgrupos de riesgo en la población de Tijuana es considerable, marcando la necesidad de enforcar las intervenciones de prevención en sus necesidades específicas. El presente modelo estima que hasta 1 en cada 116 adultos podrían ser VIH-positivos. PMID:19685824

  7. Forensic applicability of multi-allelic InDels with mononucleotide homopolymer structures.

    PubMed

    Zhang, Shu; Zhu, Qiang; Chen, Xiaogang; Zhao, Yuancun; Zhao, Xiaohong; Yang, Yiwen; Gao, Zehua; Fang, Ting; Wang, Yufang; Zhang, Ji

    2018-04-27

    Insertion/deletion polymorphisms (InDels), which possess the characteristics of low mutation rates and a short amplicon size, have been regarded as promising markers for forensic DNA analysis. InDels can be classified as bi-allelic or multi-allelic, depending on the number of alleles. Many studies have explored the use of bi-allelic InDels in forensic applications, such as individual identification and ancestry inference. However, multi-allelic InDels have received relatively little attention. In this study, InDels with 2-6 alleles and a minor allele frequency ≥0.01, in Chinese Southern Han (CHS), were retrieved from the 1000 Genomes Project Phase III. Based on the structural analysis of all retrieved InDels, 17 multi-allelic markers with mononucleotide homopolymer structures were selected and combined in one multiplex PCR reaction system. Sensitivity, species specificity and applicability in forensic case work of the multiplex were analyzed. A total of 218 unrelated individuals from a Chinese Han population were genotyped. The combined discriminatory power (CDP), the combined match probability (CMP) and the cumulative probability of exclusion (CPE) were 0.9999999999609, 3.91E-13 and 0.9956, respectively. The results demonstrated that this InDel multiplex panel was highly informative in the investigated population and most of the 26 populations of the 1000 Genomes Project. The data also suggested that multi-allelic InDel markers with monomeric base pair expansions are useful for forensic applications. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  8. Microwave Observations and Modeling of O2 (1-delta(sub g)) and O3 Diurnal Variation in the Mesosphere

    NASA Technical Reports Server (NTRS)

    Sandor, Brad J.; Clancy, R. Todd; Rusch, David W.; Randall, Cora E.; Eckman, Richard S.; Siskind, David S.; Muhleman, Duane O.

    1997-01-01

    The first microwave measurements of an electronically excited molecular species in the Earth's atmosphere are presented. Local thermodynamic equilibrium (LTE) rotational line emission from mesospheric O2(1-del(sub g)) was observed at a frequency of 255.01794 GHz (lambda is approx. 1.2 mm), employing the National Radio Astronomy Observatory (NRAO) millimeter facility at Kitt Peak, Arizona (32 N, 111 W). The pressure broadened line shapes of the O2(1-del(sub g)) spectra, which were obtained in January and April 1992 and in January and November 1993, are inverted to retrieve O2(1-del(sub g)) mixing profiles over the 50-70 km altitude region. The observed daytime abundances exceed ozone abundances in the lower mesosphere, which are separately retrieved with coincident O3 spectral line (249.7886 GHz) observations. The January and November 1993 observations are binned into 20-60 min time intervals to study O2(1-del(sub g)) diurnal behavior. Derived abundances of O2(1-del(sub g)) between 50 and 70 km for the four observation dates are 9%, 31%, 3%, and 26%, respectively, each +/- 10% higher than predicted, based on the simple photochemistry of lower mesospheric O2(1-del(sub g)). Modeled variation of [O2(1-del(sub g))] with time of day agrees with observed variation in that the observed difference between model and data abundances is constant throughout the daylight hours of each observation date. Model underprediction Of [02(lAg)] is consistent with similar model underprediction of mesospheric [O3]. A perturbation to the photochemical model that forces decreased ozone chemical loss brings brings both model [O3] and [O2(1-del(sub g))] into agreement with the observations. O2(1-del(sub g)) abundances derived from these 1.2 mm observations agree with [O2(1-del(sub g))] values derived from comparable SME observations of the 1.27 micrometers emission, with assumption of a 3880 sec O2(1-del(sub g)) radiative lifetime. The 6800 sec O2(1-del(sub g)) radiative lifetime proposed by Mlynczak and Nesbitt is ruled out by the similar comparison.

  9. Tierra del Fuego, Argentina, South America

    NASA Technical Reports Server (NTRS)

    1991-01-01

    The Mitre Peninsula is the easternmost tip of Tierra del Fuego, Argentina, (54.5S, 65.5W). Early winter snow can be seen on this south tip of the Andes Mountains. These same mountains continue underwater to Antarctica. The Strait of Magellan, separating the South American mainland from Tierra del Fuego is off the scene to the north and west, but the Strait of LeMaire, separating Tierra del Fuego from the Isla de los Estados can be seen.

  10. Desgarros del epitelio pigmentario de la retina: factores de riesgo, mecanismo y control terapéutico.

    PubMed

    Clemens, Christoph R; Eter, Nicole

    2017-07-11

    Los desgarros del epitelio pigmentario de la retina (EPR) se asocian en la mayoría de los casos con los desprendimientos vascularizados del EPR debido a una degeneración macular asociada a la edad (DMAE), y normalmente implican una pérdida adversa de la agudeza visual. Estudios recientes indican que ha habido un aumento en la incidencia de desgarros del EPR desde la introducción de fármacos anti-factor de crecimiento del endotelio vascular (anti-VEGF) así como una asociación temporal entre el desgarro y la inyección intravítrea. Dado que el número de pacientes con DMAE y el número de inyecciones anti-VEGF va en aumento, tanto la dificultad de prevenir desgarros del EPR como el tratamiento tras la formación de los desgarros han adquirido una mayor relevancia. De forma paralela, la evolución de la imagenología de la retina ha contribuido de manera significativa a comprender mejor el desarrollo de los desgarros del EPR en los últimos años. Esta revisión resume los conocimientos que se poseen actualmente sobre el desarrollo, los factores pronósticos y las estrategias terapéuticas de los desgarros del EPR antes y después de que estos se formen. © 2017 S. Karger AG, Basel.

  11. Índice UV

    EPA Pesticide Factsheets

    Información general sobre el Índice UV que proporciona un pronóstico del riesgo esperado de sobreexposición a la radiación ultravioleta (UV) del sol. El índice UV va acompañado de recomendaciones para protegerse del sol.

  12. Genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model of cystic fibrosis.

    PubMed

    Le Henaff, Carole; Faria Da Cunha, Mélanie; Hatton, Aurélie; Tondelier, Danielle; Marty, Caroline; Collet, Corinne; Zarka, Mylène; Geoffroy, Valérie; Zatloukal, Kurt; Laplantine, Emmanuel; Edelman, Aleksander; Sermet-Gaudelus, Isabelle; Marie, Pierre J

    2016-04-01

    Patients with cystic fibrosis (CF) display low bone mass and alterations in bone formation. Mice carrying the F508del genetic mutation in the cystic fibrosis conductance regulator (Cftr) gene display reduced bone formation and decreased bone mass. However, the underlying molecular mechanisms leading to these skeletal defects are unknown, which precludes the development of an efficient anti-osteoporotic therapeutic strategy. Here we report a key role for the intermediate filament protein keratin 8 (Krt8), in the osteoblast dysfunctions in F508del-Cftr mice. We found that murine and human osteoblasts express Cftr and Krt8 at low levels. Genetic studies showed that Krt8 deletion (Krt8(-/-)) in F508del-Cftr mice increased the levels of circulating markers of bone formation, corrected the expression of osteoblast phenotypic genes, promoted trabecular bone formation and improved bone mass and microarchitecture. Mechanistically, Krt8 deletion in F508del-Cftr mice corrected overactive NF-κB signaling and decreased Wnt-β-catenin signaling induced by the F508del-Cftr mutation in osteoblasts. In vitro, treatment with compound 407, which specifically disrupts the Krt8-F508del-Cftr interaction in epithelial cells, corrected the abnormal NF-κB and Wnt-β-catenin signaling and the altered phenotypic gene expression in F508del-Cftr osteoblasts. In vivo, short-term treatment with 407 corrected the altered Wnt-β-catenin signaling and bone formation in F508del-Cftr mice. Collectively, the results show that genetic or pharmacologic targeting of Krt8 leads to correction of osteoblast dysfunctions, altered bone formation and osteopenia in F508del-Cftr mice, providing a therapeutic strategy targeting the Krt8-F508del-CFTR interaction to correct the abnormal bone formation and bone loss in cystic fibrosis. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Relapsed or Refractory Double-Expressor and Double-Hit Lymphomas Have Inferior Progression-Free Survival After Autologous Stem-Cell Transplantation.

    PubMed

    Herrera, Alex F; Mei, Matthew; Low, Lawrence; Kim, Haesook T; Griffin, Gabriel K; Song, Joo Y; Merryman, Reid W; Bedell, Victoria; Pak, Christine; Sun, Heather; Paris, Tanya; Stiller, Tracey; Brown, Jennifer R; Budde, Lihua E; Chan, Wing C; Chen, Robert; Davids, Matthew S; Freedman, Arnold S; Fisher, David C; Jacobsen, Eric D; Jacobson, Caron A; LaCasce, Ann S; Murata-Collins, Joyce; Nademanee, Auayporn P; Palmer, Joycelynne M; Pihan, German A; Pillai, Raju; Popplewell, Leslie; Siddiqi, Tanya; Sohani, Aliyah R; Zain, Jasmine; Rosen, Steven T; Kwak, Larry W; Weinstock, David M; Forman, Stephen J; Weisenburger, Dennis D; Kim, Young; Rodig, Scott J; Krishnan, Amrita; Armand, Philippe

    2017-01-01

    Purpose Double-hit lymphomas (DHLs) and double-expressor lymphomas (DELs) are subtypes of diffuse large B-cell lymphoma (DLBCL) associated with poor outcomes after standard chemoimmunotherapy. Data are limited regarding outcomes of patients with relapsed or refractory (rel/ref) DEL or DHL who undergo autologous stem-cell transplantation (ASCT). We retrospectively studied the prognostic impact of DEL and DHL status on ASCT outcomes in patients with rel/ref DLBCL. Methods Patients with chemotherapy-sensitive rel/ref DLBCL who underwent ASCT at two institutions and in whom archival tumor material was available were enrolled. Immunohistochemistry for MYC, BCL2, and BCL6 and fluorescence in situ hybridization (FISH) for MYC were performed. In cases with MYC rearrangement or copy gain, FISH for BCL2 and BCL6 was also performed. Results A total of 117 patients were included; 44% had DEL and 10% had DHL. DEL and DHL were associated with inferior progression-free survival (PFS), and DHL was associated with poorer overall survival (OS). The 4-year PFS in patients with DEL compared with those with non-DEL was 48% versus 59% ( P = .049), and the 4-year OS was 56% versus 67% ( P = .10); 4-year PFS in patients with DHL compared with those with non-DHL was 28% versus 57% ( P = .013), and 4-year OS was 25% versus 61% ( P = .002). The few patients with concurrent DEL and DHL had a poor outcome (4-year PFS, 0%). In multivariable models, DEL and DHL were independently associated with inferior PFS, whereas DHL and partial response ( v complete response) at transplant were associated with inferior OS. Conclusion DEL and DHL are both associated with inferior outcomes after ASCT in patients with rel/ref DLBCL. Although ASCT remains a potentially curative approach, these patients, particularly those with DHL, are a high-risk subset who should be targeted for investigational strategies other than standard ASCT.

  14. Relapsed or Refractory Double-Expressor and Double-Hit Lymphomas Have Inferior Progression-Free Survival After Autologous Stem-Cell Transplantation

    PubMed Central

    Herrera, Alex F.; Mei, Matthew; Low, Lawrence; Kim, Haesook T.; Griffin, Gabriel K.; Song, Joo Y.; Merryman, Reid W.; Bedell, Victoria; Pak, Christine; Sun, Heather; Paris, Tanya; Stiller, Tracey; Brown, Jennifer R.; Budde, Lihua E.; Chan, Wing C.; Chen, Robert; Davids, Matthew S.; Freedman, Arnold S.; Fisher, David C.; Jacobsen, Eric D.; Jacobson, Caron A.; LaCasce, Ann S.; Murata-Collins, Joyce; Nademanee, Auayporn P.; Palmer, Joycelynne M.; Pihan, German A.; Pillai, Raju; Popplewell, Leslie; Siddiqi, Tanya; Sohani, Aliyah R.; Zain, Jasmine; Rosen, Steven T.; Kwak, Larry W.; Weinstock, David M.; Forman, Stephen J.; Weisenburger, Dennis D.; Kim, Young; Rodig, Scott J.; Krishnan, Amrita

    2017-01-01

    Purpose Double-hit lymphomas (DHLs) and double-expressor lymphomas (DELs) are subtypes of diffuse large B-cell lymphoma (DLBCL) associated with poor outcomes after standard chemoimmunotherapy. Data are limited regarding outcomes of patients with relapsed or refractory (rel/ref) DEL or DHL who undergo autologous stem-cell transplantation (ASCT). We retrospectively studied the prognostic impact of DEL and DHL status on ASCT outcomes in patients with rel/ref DLBCL. Methods Patients with chemotherapy-sensitive rel/ref DLBCL who underwent ASCT at two institutions and in whom archival tumor material was available were enrolled. Immunohistochemistry for MYC, BCL2, and BCL6 and fluorescence in situ hybridization (FISH) for MYC were performed. In cases with MYC rearrangement or copy gain, FISH for BCL2 and BCL6 was also performed. Results A total of 117 patients were included; 44% had DEL and 10% had DHL. DEL and DHL were associated with inferior progression-free survival (PFS), and DHL was associated with poorer overall survival (OS). The 4-year PFS in patients with DEL compared with those with non-DEL was 48% versus 59% (P = .049), and the 4-year OS was 56% versus 67% (P = .10); 4-year PFS in patients with DHL compared with those with non-DHL was 28% versus 57% (P = .013), and 4-year OS was 25% versus 61% (P = .002). The few patients with concurrent DEL and DHL had a poor outcome (4-year PFS, 0%). In multivariable models, DEL and DHL were independently associated with inferior PFS, whereas DHL and partial response (v complete response) at transplant were associated with inferior OS. Conclusion DEL and DHL are both associated with inferior outcomes after ASCT in patients with rel/ref DLBCL. Although ASCT remains a potentially curative approach, these patients, particularly those with DHL, are a high-risk subset who should be targeted for investigational strategies other than standard ASCT. PMID:28034071

  15. Naturally occurring deletions/insertions in HBV core promoter tend to decrease in hepatitis B e antigen-positive chronic hepatitis B patients during antiviral therapy.

    PubMed

    Peng, Yaqin; Liu, Baoming; Hou, Jinlin; Sun, Jian; Hao, Ran; Xiang, Kuanhui; Yan, Ling; Zhang, Jiangbo; Zhuang, Hui; Li, Tong

    2015-01-01

    Mutations in HBV core promoter (CP) are suggested to affect viral replication and disease progression. We investigated CP deletion/insertion mutations (Del/Ins) in hepatitis B e antigen (HBeAg)-positive chronic hepatitis B (CHB) patients before and during antiviral treatment. Direct and clone sequencings were used for detection of CP Del/Ins in 12 patients. The dynamic changes of CP Del/Ins were tracked in these cases until week 48 of treatment. The effects of Del/Ins on CP activities and hepatitis B X protein (HBx) were analysed using luciferase assay and sequence comparison, respectively. Furthermore, 292 untreated HBeAg-positive CHB cases were also analysed. Twelve cases with multi-peak PCR direct sequencing electropherograms at baseline were confirmed to have CP Del/Ins by clone sequencing, with detection rates varying from 14.8% to 93.3% of clones analysed. Follow-up studies showed the detection rates of CP Del/Ins in patients decreased from 100% (12/12) at baseline to 16.7% (2/12) at week 48 of treatment (P<0.001), in parallel with a decline in HBV DNA, hepatitis B surface antigen (HBsAg), alanine aminotransferase (ALT) and aspartate transaminase (AST) levels along with an increase in HBeAg loss. Luciferase assay results showed distinct promoter activities among Del/Ins-harbouring CP sequences. Importantly, 71.8% (148/206) of Del/Ins sequences potentially resulted in HBx carboxy-terminal truncations. CP Del/Ins mutations were also found in 27.4% (80/292) of untreated cases. Naturally occurring complex of CP Del/Ins mutants existed in untreated HBeAg-positive CHB patients. These mutations would affect HBV transcription activities and integrity of HBx, which might correlate with disease progression. Their prevalence decreases on antiviral therapy in parallel with the decline in HBV DNA, HBsAg and ALT and AST levels.

  16. CONTAMINACIÓN AMBIENTAL, VARIABILIDAD CLIMÁTICA Y CAMBIO CLIMÁTICO: UNA REVISIÓN DEL IMPACTO EN LA SALUD DE LA POBLACIÓN PERUANA

    PubMed Central

    Gonzales, Gustavo F.; Zevallos, Alisson; Gonzales-Castañeda, Cynthia; Nuñez, Denisse; Gastañaga, Carmen; Cabezas, César; Naeher, Luke; Levy, Karen; Steenland, Kyle

    2015-01-01

    RESUMEN El presente artículo es una revisión sobre la contaminación del agua, el aire y el efecto del cambio climático en la salud de la población peruana. Uno de los principales contaminantes del aire es el material particulado menor de 2,5 μ (PM 2,5), en la ciudad de Lima, anualmente 2300 muertes prematuras son atribuibles a este contaminante. Otro problema es la contaminación del aire domiciliario por el uso de cocinas con combustible de biomasa, donde la exposición excesiva a PM 2,5 dentro de las casas es responsable de aproximadamente 3000 muertes prematuras anuales entre adultos, con otro número desconocido de muertes entre niños debido a infecciones respiratorias. La contaminación del agua tiene como principales causas los desagües vertidos directamente a los ríos, minerales (arsénico) de varias fuentes, y fallas de las plantas de tratamiento. En el Perú, el cambio climático puede impactar en la frecuencia y severidad del fenómeno de El Niño oscilación del sur (ENSO) que se ha asociado con un incremento en los casos de enfermedades como cólera, malaria y dengue. El cambio climático incrementa la temperatura y puede extender las áreas afectadas por enfermedades transmitidas por vectores, además de tener efecto en la disponibilidad del agua y en la contaminación del aire. En conclusión, el Perú, pasa por una transición de factores de riesgo ambientales, donde coexisten riesgos tradicionales y modernos, y persisten los problemas infecciosos y crónicos, algunos de los cuales se asocian con problemas de contaminación de agua y de aire. PMID:25418656

  17. CDC25AQ110del: A Novel Cell Division Cycle 25A Isoform Aberrantly Expressed in Non-Small Cell Lung Cancer

    PubMed Central

    Younis, Rania H.; Cao, Wei; Lin, Ruxian; Xia, Ronghui; Liu, Zhenqiu; Edelman, Martin J.; Mei, Yuping; Mao, Li; Ren, Hening

    2012-01-01

    Objective Lung cancer remains number one cause of cancer related deaths worldwide. Cell cycle deregulation plays a major role in the pathogenesis of Non-Small Cell Lung Cancer (NSCLC). CDC25A represents a critical cell cycle regulator that enhances cell cycle progression. In this study we aimed to investigate the role of a novel CDC25A transcriptional variant, CDC25AQ110del, on the regulation of the CDC25A protein, and its impact on prognosis of NSCLC patients. Methodology/Principal Findings Here we report a novel CDC25A transcript variant with codon 110 (Glutamine) deletion, that we termed CDC25AQ110del in NSCLC cells. In 9 (75%) of the 12 NSCLC cell lines, CDC25AQ110del expression accounted for more than 20% of the CDC25A transcripts. Biological effects of CDC25AQ110del were investigated in H1299 and HEK-293F cells using UV radiation, flowcytometry, cyclohexamide treatment, and confocal microscopy. Compared to CDC25Awt, CDC25AQ110del protein had longer half-life; cells expressing CDC25AQ110del were more resistant to UV irradiation and showed more mitotic activity. Taqman-PCR was used to quantify CDC25AQ110del expression levels in 88 primary NSCLC tumor/normal tissue pairs. In patients with NSCLC, Kaplan Meier curves showed tumors expressing higher levels of CDC25AQ110del relative to the adjacent lung tissues to have significantly inferior overall survival (P = .0018). Significance Here we identified CDC25AQ110del as a novel transcriptional variant of CDC25A in NSCLC. The sequence-specific nature of the abnormality could be a prognostic indicator in NSCLC patients as well as a candidate target for future therapeutic strategies. PMID:23071577

  18. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Fang, Xu-Qian; Liu, Xiang-Fan; Yao, Ling

    Highlights: •A novel FAK splicing mutation identified in breast tumor. •FAK-Del33 mutation promotes cell migration and invasion. •FAK-Del33 mutation regulates FAK/Src signal pathway. -- Abstract: Focal adhesion kinase (FAK) regulates cell adhesion, migration, proliferation, and survival. We identified a novel splicing mutant, FAK-Del33 (exon 33 deletion, KF437463), in both breast and thyroid cancers through colony sequencing. Considering the low proportion of mutant transcripts in samples, this mutation was detected by TaqMan-MGB probes based qPCR. In total, three in 21 paired breast tissues were identified with the FAK-Del33 mutation, and no mutations were found in the corresponding normal tissues. When introducedmore » into a breast cell line through lentivirus infection, FAK-Del33 regulated cell motility and migration based on a wound healing assay. We demonstrated that the expression of Tyr397 (main auto-phosphorylation of FAK) was strongly increased in FAK-Del33 overexpressed breast tumor cells compared to wild-type following FAK/Src RTK signaling activation. These results suggest a novel and unique role of the FAK-Del33 mutation in FAK/Src signaling in breast cancer with significant implications for metastatic potential.« less

  19. Factors associated with poor sleep quality in women with cancer.

    PubMed

    Mansano-Schlosser, Thalyta Cristina; Ceolim, Maria Filomena

    2017-03-02

    to analyze the factors associated with poor sleep quality, its characteristics and components in women with breast cancer prior to surgery for removing the tumor and throughout the follow-up. longitudinal study in a teaching hospital, with a sample of 102 women. The following were used: a questionnaire for sociodemographic and clinical characterization, the Pittsburgh Sleep Quality Index; the Beck Depression Inventory; and the Herth Hope Scale. Data collection covered from prior to the surgery for removal of the tumor (T0) to T1, on average 3.2 months; T2, on average 6.1 months; and T3, on average 12.4 months. Descriptive statistics and the Generalized Estimating Equations model were used. depression and pain contributed to the increase in the score of the Pittsburgh Sleep Quality Index, and hope, to the reduction of the score - independently - throughout follow-up. Sleep disturbances were the component with the highest score throughout follow-up. the presence of depression and pain, prior to the surgery, contributed to the increase in the global score of the Pittsburgh Sleep Quality Index, which indicates worse quality of sleep throughout follow-up; greater hope, in its turn, influenced the reduction of the score of the Pittsburgh Sleep Quality Index. analizar los factores asociados a la mala calidad del sueño, sus características y componentes en mujeres con cáncer de mama, antes de la cirugía de retirada del tumor y a lo largo del seguimiento. estudio longitudinal, en hospital universitario con muestra de 102 mujeres. Fueron utilizados: un cuestionario de caracterización sociodemográfica y clínica; el Índice de Calidad del Sueño de Pittsburgh; el Inventario de Depresión de Beck; y la Escala de Esperanza de Herth. La recolección comprendió los momentos: antes de la cirugía de retirada del tumor (T0), en (T1) en promedio 3,2 meses, en (T2) en promedio 6,1 meses y en (T3) en promedio 12,4 meses. Se utilizó estadística descriptiva y el modelo de Ecuaciones de Estimación Generalizada. la depresión y el dolor contribuyeron para el aumento del puntaje del Índice de Calidad del Sueño de Pittsburgh y la esperanza para la reducción del puntaje, de manera independiente, a lo largo del seguimiento. Los trastornos del sueño fueron el componente con puntuación más elevada, a lo largo del seguimiento. la presencia de la depresión y del dolor, previos a la cirugía, contribuyeron para el aumento del puntaje global del Índice de Calidad del Sueño de Pittsburgh, lo que indica peor calidad del sueño, a lo largo del seguimiento y, la mayor esperanza, a su vez, influenció en la reducción del puntaje del Índice de Calidad del Sueño de Pittsburgh. analisar os fatores associados à má qualidade do sono, suas características e componentes em mulheres com câncer de mama antes da cirurgia de retirada do tumor e ao longo do seguimento. estudo longitudinal, em hospital universitário com amostra de 102 mulheres. Foram utilizados: questionário de caracterização sociodemográfica e clínica, Índice de Qualidade do Sono de Pittsburgh; Inventário de Depressão de Beck; Escala de Esperança de Herth. Coleta compreendeu antes da cirurgia de retirada do tumor (T0) em T1, em média 3,2 meses; T2, em média 6,1 meses; T3, em média 12,4 meses. Utilizou-se estatística descritiva e o modelo de Equações de Estimação Generalizada. a depressão e a dor contribuíram para o aumento do escore do Índice de Qualidade de Sono de Pittsburgh, e a esperança, para a redução do escore, de maneira independente, ao longo do seguimento. Os transtornos do sono foram o componente com pontuação mais elevada, ao longo do seguimento. a presença de depressão e de dor, previamente à cirurgia, contribuiu para o aumento do escore global do Índice de Qualidade do Sono de Pittsburgh, o que indica pior qualidade do sono, ao longo do seguimento e, a maior esperança, por sua vez, influenciou na redução do escore do Índice de Qualidade do Sono de Pittsburgh.

  20. Cambios históricos en el aporte terrígeno de la cuenca del Río de la Plata sobre la plataforma interna Uruguaya

    NASA Astrophysics Data System (ADS)

    Marrero, Analía; Tudurí, Adriana; Pérez, Laura; Cuña, Caroline; Muniz, Pablo; Lopes Figueira, Rubens; Michaelovitch de Mahiques, Michel; Alves de Lima Ferreira, Paulo; Pittauerová, Daniela; Hanebuth, Till; García Rodríguez, Felipe

    2014-12-01

    El Río de la Plata (RdlP) presenta significativas variaciones naturales (hidrodinámicas y oceanográficas) asociadas a diferentes condiciones climáticas. El propósito de este trabajo es inferir los cambios de aportes continentales de sedimentos y su relación con las variaciones hidrológicas del Río de la Plata, a través del análisis de proxies sedimentológicos y geoquímicos en testigos de sedimentos de la plataforma interna uruguaya que registran los últimos 100 años, aproximadamente. A partir de la datación por 210Pb de dos testigos de sedimentos (GeoB 13813-4 y BAR1) se reconstruyó la geocronología del ambiente, y se relacionó con datos de las forzantes climáticas Pacific Decadal Oscillation, El Niño/La Niña Southern Oscillation, Atlantic Multidecadal Oscillation, y las anomalías hidrológicas de los ríos Paraná y Uruguay. Los valores más positivos y estables del Southern Oscillation Index, los cuales corresponden a fases La Niña, se observan en el periodo correspondiente entre 1910-1970, respecto al resto de la serie, donde se aprecia una mayor variabilidad y una tendencia hacia valores más negativos (eventos El Niño). Se hicieron dendrogramas (clustering) jerárquicos para ambos testigos. Para el testigo GeoB 13813-4, se utilizó la relación Ca/Ti y la granulometría, mientras que para BAR1 se recurrió a variables granulométricas y la tasa de sedimentación. El mayor aporte continental hacia la región de la plataforma adyacente al Río de la Plata registrado a partir del año 1970, podría ser el factor principal de los agrupamientos observados en los clusters para ambos testigos. Las agrupaciones mostraron una diferenciación en la década de 1970, lo que estaría asociado al aumento de los caudales de los ríos Paraná y Uruguay, durante las últimas tres décadas del siglo XX. Por otra parte se observa que la granulometría del testigo BAR1 presentó un mayor tamaño de grano y más variabilidad que en el caso del testigo GeoB 13813-4. También se determinó una mayor acumulación de sedimentos a través del tiempo en el cinturón de barro del Río de la Plata (plataforma continental adyacente), comparado con aquel registrado en la Barra del Indio (límite entre zona intermedia y externa del estuario). Estas diferencias podrían estar relacionadas con la influencia del Río de la Plata, el cual genera un ambiente altamente dinámico sobre la Barra del Indio y un ambiente más estable sobre el cinturón de barro en la plataforma continental.

  1. Reconversion Militar del Ejercito en la Frontera Dominico-Haitiana (Military Restructuring of the Army on the Dominican-Haitian Border)

    DTIC Science & Technology

    2013-05-22

    Estado Mayor del Ejército de EE. UU. en cumplimiento parcial de los requisitos para la obtención del grado de MAESTRÍA EN CIENCIAS Y ARTES...MILITARES Estudios Generales Por MAYOR FELIPE CÉSPEDES TEJERA, EJÉRCITO NACIONAL DOMINICANO Licenciado en Ciencias Sociales, Universidad...ANSI Std. Z39.18 ii MAESTRÍA EN ARTES Y CIENCIAS MILITARES PÁGINA DE APROBACIÓN DE LA TESIS Nombre del Candidato: Mayor Felipe Céspedes Tejera

  2. CHEK2*1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family-Based Genetic Association Study

    DTIC Science & Technology

    2007-10-01

    AD_________________ Award Number: DAMD17-03-1-0774 TITLE: CHEK2 *1100delC Variant and BRCA1/2...NUMBER CHEK2 *1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family- Based Genetic Association Study 5b. GRANT NUMBER DAMD17...association between the CHEK2 *1100delC gene variant and breast cancer among BRCA1/2-negative families. Vital to DNA replication and normal growth of breast

  3. Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

    PubMed Central

    Bliznetz, Elena A; Lalayants, Maria R; Markova, Tatiana G; Balanovsky, Oleg P; Balanovska, Elena V; Skhalyakho, Roza A; Pocheshkhova, Elvira A; Nikitina, Natalya V; Voronin, Sergey V; Kudryashova, Elena K; Glotov, Oleg S; Polyakov, Alexander V

    2017-01-01

    Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing loss includes GJB2 sequencing and DFNB1 deletion analysis for two common large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854). Here, we report frequency in Russia, clinical significance and evolutionary origins of a 101 kb deletion, del(GJB2-D13S175), recently identified by us. In multiethnic cohort of 1104 unrelated hearing loss patients with biallelic mutations at the DFNB1 locus, the del(GJB2-D13S175) allele frequency of up to 0.5% (11/2208) was determined and this allele was shown to be predominantly associated with profound sensorineural hearing loss. Additionally, eight previously unpublished GJB2 mutations were described in this study. All patients carrying del(GJB2-D13S175) were of the Ingush ancestry. Among normal hearing individuals, del(GJB2-D13S175) was observed in Russian Republic of Ingushetia with a carrier rate of ~1% (2/241). Analysis of haplotypes associated with the deletion revealed a common founder in the Ingushes, with age of the deletion being ~3000 years old. Since del(GJB2-D13S175) was missed by standard methods of GJB2 analysis, del(GJB2-D13S175) detection has been added to our routine testing strategy for DFNB1 hearing loss. PMID:28405014

  4. Effect of the F508del genotype on outcomes of endoscopic sinus surgery in children with cystic fibrosis.

    PubMed

    Do, Bao Anh Julie; Lands, Larry C; Saint-Martin, Christine; Mascarella, Marco A; Manoukian, John J; Daniel, Sam J; Nguyen, Lily H P

    2014-07-01

    Numerous authors have sought to describe genotype-phenotype correlations in cystic fibrosis (CF), notably to pancreatic insufficiency and lung disease. However, few studies have focused on the association between the F508del genotype and response to sinus surgery. The objective of this study is to assess the effect of the F508del genotype on sinonasal disease severity and outcomes following functional endoscopic sinus surgery (FESS) in a pediatric population. A retrospective chart review of 153 children with CF seen at a tertiary care pediatric hospital from 1995 to 2008 was performed. Patients were classified into one of three groups according to F508del genotype, either as homozygous, heterozygous or not carrying a F508del mutation. The sinonasal disease phenotype of the three groups was compared based on clinical and radiological findings, extent of endoscopic sinus surgery and rate of revision surgery. The relationship between the F508del genotype and pancreatic insufficiency was confirmed (p<0.05). There was no association between the F508del genotype and increased need for FESS (p=0.75). Moreover, no association was established between F508del homozygosity and presence of nasal polyps, Lund-Mackay score, extent of surgery or length of postoperative hospitalization. The rates of revision surgery did not differ significantly among the three genotypes analyzed (p=0.59). There is no clear association between the F508del genotype and an increased need for FESS, extent of surgery, or revision surgery. Given the phenotypic variability of sinonasal disease in patients with CF, a prospective study is needed to better understand outcomes following FESS and the contribution of gene modifiers to this effect. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  5. 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma.

    PubMed

    Cosson, Adrien; Chapiro, Elise; Belhouachi, Nabila; Cung, Hong-Anh; Keren, Boris; Damm, Frederik; Algrin, Caroline; Lefebvre, Christine; Fert-Ferrer, Sandra; Luquet, Isabelle; Gachard, Nathalie; Mugneret, Francine; Terre, Christine; Collonge-Rame, Marie-Agnes; Michaux, Lucienne; Rafdord-Weiss, Isabelle; Talmant, Pascaline; Veronese, Lauren; Nadal, Nathalie; Struski, Stephanie; Barin, Carole; Helias, Catherine; Lafage, Marina; Lippert, Eric; Auger, Nathalie; Eclache, Virginie; Roos-Weil, Damien; Leblond, Veronique; Settegrana, Catherine; Maloum, Karim; Davi, Frederic; Merle-Beral, Helene; Lesty, Claude; Nguyen-Khac, Florence

    2014-08-01

    Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly in chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14q): 54 of CLL and 27 of small lymphocytic lymphoma (SLL), the largest reported series to date. Using karyotype and fluorescence in situ hybridization (FISH), the most frequent additional abnormality was trisomy 12 (tri12), observed in 28/79 (35%) cases, followed by del13q14 (12/79, 15%), delTP53 (11/80, 14%) delATM (5/79, 6%), and del6q21 (3/76, 4%). IGHV genes were unmutated in 41/53 (77%) patients, with a high frequency of IGHV1-69 (21/52, 40%). NOTCH1 gene was mutated in 14/45 (31%) patients. There was no significant difference in cytogenetic and molecular abnormalities between CLL and SLL. Investigations using FISH and SNP-array demonstrated the heterogeneous size of the 14q deletions. However, a group with the same del(14)(q24.1q32.33) was identified in 48% of cases. In this group, tri12 (P = 0.004) and NOTCH1 mutations (P = 0.02) were significantly more frequent than in the other patients. In CLL patients with del(14q), median treatment-free survival (TFS) was 27 months. In conclusion, del(14q) is associated with tri12 and with pejorative prognostic factors: unmutated IGHV genes (with over-representation of the IGHV1-69 repertoire), NOTCH1 mutations, and a short TFS. © 2014 Wiley Periodicals, Inc.

  6. A Rice PECTATE LYASE-LIKE Gene Is Required for Plant Growth and Leaf Senescence1[OPEN

    PubMed Central

    Leng, Yujia; Yang, Yaolong; Ren, Deyong; Dai, Liping; Wang, Yuqiong; Chen, Long; Tu, Zhengjun; Gao, Yihong; Zhu, Li; Hu, Jiang; Gao, Zhenyu; Guo, Longbiao; Lin, Yongjun

    2017-01-01

    To better understand the molecular mechanisms behind plant growth and leaf senescence in monocot plants, we identified a mutant exhibiting dwarfism and an early-senescence leaf phenotype, termed dwarf and early-senescence leaf1 (del1). Histological analysis showed that the abnormal growth was caused by a reduction in cell number. Further investigation revealed that the decline in cell number in del1 was affected by the cell cycle. Physiological analysis, transmission electron microscopy, and TUNEL assays showed that leaf senescence was triggered by the accumulation of reactive oxygen species. The DEL1 gene was cloned using a map-based approach. It was shown to encode a pectate lyase (PEL) precursor that contains a PelC domain. DEL1 contains all the conserved residues of PEL and has strong similarity with plant PelC. DEL1 is expressed in all tissues but predominantly in elongating tissues. Functional analysis revealed that mutation of DEL1 decreased the total PEL enzymatic activity, increased the degree of methylesterified homogalacturonan, and altered the cell wall composition and structure. In addition, transcriptome assay revealed that a set of cell wall function- and senescence-related gene expression was altered in del1 plants. Our research indicates that DEL1 is involved in both the maintenance of normal cell division and the induction of leaf senescence. These findings reveal a new molecular mechanism for plant growth and leaf senescence mediated by PECTATE LYASE-LIKE genes. PMID:28455404

  7. A Rice PECTATE LYASE-LIKE Gene Is Required for Plant Growth and Leaf Senescence.

    PubMed

    Leng, Yujia; Yang, Yaolong; Ren, Deyong; Huang, Lichao; Dai, Liping; Wang, Yuqiong; Chen, Long; Tu, Zhengjun; Gao, Yihong; Li, Xueyong; Zhu, Li; Hu, Jiang; Zhang, Guangheng; Gao, Zhenyu; Guo, Longbiao; Kong, Zhaosheng; Lin, Yongjun; Qian, Qian; Zeng, Dali

    2017-06-01

    To better understand the molecular mechanisms behind plant growth and leaf senescence in monocot plants, we identified a mutant exhibiting dwarfism and an early-senescence leaf phenotype, termed dwarf and early-senescence leaf1 ( del1 ). Histological analysis showed that the abnormal growth was caused by a reduction in cell number. Further investigation revealed that the decline in cell number in del1 was affected by the cell cycle. Physiological analysis, transmission electron microscopy, and TUNEL assays showed that leaf senescence was triggered by the accumulation of reactive oxygen species. The DEL1 gene was cloned using a map-based approach. It was shown to encode a pectate lyase (PEL) precursor that contains a PelC domain. DEL1 contains all the conserved residues of PEL and has strong similarity with plant PelC. DEL1 is expressed in all tissues but predominantly in elongating tissues. Functional analysis revealed that mutation of DEL1 decreased the total PEL enzymatic activity, increased the degree of methylesterified homogalacturonan, and altered the cell wall composition and structure. In addition, transcriptome assay revealed that a set of cell wall function- and senescence-related gene expression was altered in del1 plants. Our research indicates that DEL1 is involved in both the maintenance of normal cell division and the induction of leaf senescence. These findings reveal a new molecular mechanism for plant growth and leaf senescence mediated by PECTATE LYASE-LIKE genes. © 2017 American Society of Plant Biologists. All Rights Reserved.

  8. Expendable Bathythermograph (XBT) Measurements in the Western Alboran Sea, October 1982

    DTIC Science & Technology

    1983-08-01

    aircraft, shore- based radar, and shore- based meteorological stations cooperated in an intense measurement effort. As one part of this effort USNS BARTLETT...de Castillejo (1972). Contribucion a1 Conocimiento del mar de Alboran: III. Variaciones del Remolino Anticiclonico. Boletin del Institute Espanol

  9. PubMed

    Gómez, Luis Alberto; Montoya, Gladis; Rivera, Hernán Mauricio; Hernández, Juan Carlos

    2017-04-01

    Introducción. El virus del Zika (ZIKV) es un flavivirus con envoltura, transmitido a los seres humanos principalmente por el vector Aedes aegypti. La infección por ZIKV se ha asociado con un gran neurotropismo y con efectos neuropáticos, como el síndrome de Guillain-Barré en el adulto y la microcefalia fetal y posnatal, así como con un síndrome de infección congénita similar al producido por el virus de la rubéola (RV).Objetivo. Comparar las estructuras moleculares de la proteína de envoltura E del virus del Zika (E-ZIKV) y de la E1 del virus de la rubéola (E1-RV), y plantear posibles implicaciones en el neurotropismo y en las alteraciones del sistema nervioso asociadas con el ZIKV.Materiales y métodos. La secuencia de aminoácidos de la proteína E-ZIKV (PDB: 5iZ7) se alineó con la de la glucopreteína E1 del virus de la rubéola (PDB: 4ADG). Los elementos de la estructura secundaria se determinaron usando los programas Vector NTI Advance®, DSSP y POSA, así como herramientas de gestión de datos (AlignX®). Uno de los criterios principales de comparación y alineación fue la asignación de residuos estructuralmente equivalentes, con más de 70 % de identidad.Resultados. La organización estructural de la proteína E-ZIKV (PDB: 5iZ7) fue similar a la de E1-RV (PDB: 4ADG) (70 a 80 % de identidad), y se observó una correspondencia con la estructura definida para las glucoproteínas de fusión de membrana de clase II de los virus con envoltura. E-ZIKV y E1-RV exhibieron elementos estructurales de fusión muy conservados en la región distal del dominio II, asociados con la unión a los receptores celulares de entrada del virus de la rubéola (glucoproteína de mielina del oligodendrocito, Myelin Oligodendrocyte Glycoprotein, MOG), y con los receptores celulares Axl del ZIKV y de otros flavivirus.Conclusión. La comparación de las proteínas E-ZIKV y E1-RV es un paso necesario hacia la definición de otros factores moleculares determinantes del neurotropismo y la patogenia del ZIKV, el cual puede contribuir a generar estrategias de diagnóstico, prevención y tratamiento de las complicaciones neurológicas inducidas por el ZIKV.

  10. Primer registro para Peru del genero Nielsonia Young, 1977 (Hemiptera: Cicadellidae: Cicadellinae: Cicadellini)

    USDA-ARS?s Scientific Manuscript database

    En este articulo se reporta por primera vez para el Peru una especies del genero Nielsonia Young, 1977, de material procedente del Departamento de Tumbes. El genero ha sido reportada anteriormente de Ecuador, como unico registro para Sudamerica, y America Central. El unico especimen hembra encontra...

  11. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 33 Navigation and Navigable Waters 1 2012-07-01 2012-07-01 false Indian River Bay, Del. 110.65 Section 110.65 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY ANCHORAGES ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing...

  12. Pastoral del Nino: Bringing the Abundant Life to Paraguayan Children

    ERIC Educational Resources Information Center

    Austin, Ann Berghout; Aquino, Cyle; Burro, Elizabeth

    2007-01-01

    Pastoral del Nino is transforming children's lives in rural Paraguay. Part of Pastoral Social (Catholic Social Services), Pastoral del Nino's primary focus is to bring "vida en abundancia" (the abundant life) to families by ensuring that mothers survive childbirth and children reach their first birthdays. In addition, the organization…

  13. Calidad del aire interior en las escuelas

    EPA Pesticide Factsheets

    EPA ha desarrollado el Programa de Herramientas de Calidad del Aire Interior para las Escuelas para reducir la exposición a los contaminantes ambientales en las mismas a través de la adopción voluntaria de las prácticas para manejar la calidad del aire int

  14. The Armed Forces and the Fight against Drug-Trafficking in Honduras (Las FUERZAS ARMADAS EN EL COMBATE AL NARCOTR FICO EN HONDURAS)

    DTIC Science & Technology

    2013-06-13

    Estado Mayor del Ejército de EE. UU. En cumplimiento parcial de los requisitos para la obtención del grado de MAESTRÍA EN CIENCIAS Y ARTES MILITARES...Estudios Generales Por WALTER D. HERNANDEZ CARVAJAL, MAYOR DEL EJÉRCITO DE HONDURAS Licenciado en Ciencias Militares...Form 298 (Rev. 8-98) Prescribed by ANSI Std. Z39.18 ii MAESTRÍA EN ARTES Y CIENCIAS MILITARES PÁGINA DE APROBACIÓN DE LA TESIS Nombre del

  15. Resultados del relevamiento de HI en el Cielo Austral: 3. Relevamiento de Nubes de Alta Velocidad

    NASA Astrophysics Data System (ADS)

    Morras, R.; Bajaja, E.; Arnal, E. M.; Pöppel, W. G. L.

    Los resultados del relevamiento de HI del Hemisferio Austral fueron reprocesados con el fin de incrementar su sensibilidad. Así, se utilizó esta nueva base de datos con el fin de obtener un nuevo relevamiento de Nubes de Alta Velocidad en el cielo austral. El ruido r.m.s. alcanzado es de 0.015-0.020 K, con una resolución espectral de 8 km/seg. El cubrimiento espacial del relevamiento mejora en un factor 16 al realizado por Bajaja et al (1985).

  16. Multi-InDel Analysis for Ancestry Inference of Sub-Populations in China

    PubMed Central

    Sun, Kuan; Ye, Yi; Luo, Tao; Hou, Yiping

    2016-01-01

    Ancestry inference is of great interest in diverse areas of scientific researches, including the forensic biology, medical genetics and anthropology. Various methods have been published for distinguishing populations. However, few reports refer to sub-populations (like ethnic groups) within Asian populations for the limitation of markers. Several InDel loci located very tightly in physical positions were treated as one marker by us, which is multi-InDel. The multi-InDel shows potential as Ancestry Inference Marker (AIM). In this study, we performed a genome-wide scan for multi-InDels as AIM. After examining the FST distributions in the 1000 Genomes Database, 12 candidates were selected and validated for eastern Asian populations. A multiplexed assay was developed as a panel to genotype 12 multi-InDel markers simultaneously. Ancestry component analysis with STRUCTURE and principal component analysis (PCA) were employed to estimate its capability for ancestry inference. Furthermore, ancestry assignments of trial individuals were conducted. It proved to be very effective when 210 samples from Han and Tibetan individuals in China were tested. The panel consisting of multi-InDel markers exhibited considerable potency in ancestry inference, and was suggested to be applied in forensic practices and genetic population studies. PMID:28004788

  17. Delayed fertilization of anuran amphibian (Xenopus) eggs leads to reduced numbers of primordial germ cells

    NASA Technical Reports Server (NTRS)

    Wakahara, M.; Neff, A. W.; Malacinski, G. M.

    1984-01-01

    Several media were tested for the extent to which they promoted high fertilization efficiencies in ovulated, stripped Xenopus eggs. One medium was selected for maintaining eggs in a 'delayed fertilization' (DelF) condition. DelF eggs displayed several unusual characteristics, including shift of the center of gravity, prominent sperm entrance site, and occasional polyspermy. The frequency of normal pattern formation varied according to the length of time eggs were maintained in the DelF condition. Various developmental abnormalities were observed during gastrulation, neurulation, and organogenesis. Most abnormalities appeared, however, to be related to morphogenesis of the endoderm. Primordial germ cell (PGC) development was examined in DelF eggs which displayed normal external morphological features at the swimming tadpole stage. PGC counts were usually normal in short-duration (eg, 5 hr) DelF eggs, but frequently substantially reduced or completely diminished in longer-duration (eg, 25h) tadpoles. Six spawnings were compared and shown to exhibit considerable variability in fertility, morphogenesis, and PGC development. Yolk platelet shifts and developmental parameters were examined in two additional spawnings. The subcortical cytoplasm in which the germ plasm is normally localized appeared to be disrupted in longer duration DelF eggs. That observation may account for low PGC counts in DelF tadpoles.

  18. Nonmutagenic carcinogens induce intrachromosomal recombination in dividing yeast cells.

    PubMed

    Schiestl, R H

    1993-12-01

    A large number of animal and human carcinogens without apparent genotoxic activity exist (nonmutagenic carcinogens) that are difficult or impossible to detect with the currently used short-term tests. Because of the association of carcinogenesis with genome rearrangement, a system selecting for intrachromosomal recombination (DEL recombination) that results in genome rearrangement has been constructed in the yeast Saccharomyces cerevisiae. Because DEL recombination is under different genetic control than interchromosomal recombination and meiotic recombination, it is probably due to a different mechanism. It has been found that DEL recombination is readily inducible by 10 mutagenic carcinogens and 17 nonmutagenic carcinogens that are not detectable (false negatives) with the Ames assay. In addition, three out of four mutagens that do not cause cancer (false positives in the Ames assay) do not induce DEL recombination. DEL recombination is inducible by UV only in dividing cells but not in cells synchronized in the G1 or G2 phase of the cell cycle. Interchromosomal recombination, on the other hand, is inducible in G1 but not in G2. The nonmutagenic carcinogens induce DEL recombination only in actively growing cells, which may give some indication as to their mechanism. Further characterization of the mechanism involved in induction of DEL recombination may contribute to the understanding of the biological activity of nonmutagenic carcinogens.

  19. Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage.

    PubMed

    Li, Juan; Prins, Daniel; Park, Hyun Jung; Grinfeld, Jacob; Gonzalez-Arias, Carlos; Loughran, Stephen; Dovey, Oliver M; Klampfl, Thorsten; Bennett, Cavan; Hamilton, Tina L; Pask, Dean C; Sneade, Rachel; Williams, Matthew; Aungier, Juliet; Ghevaert, Cedric; Vassiliou, George S; Kent, David G; Green, Anthony R

    2018-02-08

    Somatic mutations in the endoplasmic reticulum chaperone calreticulin (CALR) are detected in approximately 40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). Multiple different mutations have been reported, but all result in a +1-bp frameshift and generate a novel protein C terminus. In this study, we generated a conditional mouse knockin model of the most common CALR mutation, a 52-bp deletion. The mutant novel human C-terminal sequence is integrated into the otherwise intact mouse CALR gene and results in mutant CALR expression under the control of the endogenous mouse locus. CALR del/+ mice develop a transplantable ET-like disease with marked thrombocytosis, which is associated with increased and morphologically abnormal megakaryocytes and increased numbers of phenotypically defined hematopoietic stem cells (HSCs). Homozygous CALR del/del mice developed extreme thrombocytosis accompanied by features of MF, including leukocytosis, reduced hematocrit, splenomegaly, and increased bone marrow reticulin. CALR del/+ HSCs were more proliferative in vitro, but neither CALR del/+ nor CALR del/del displayed a competitive transplantation advantage in primary or secondary recipient mice. These results demonstrate the consequences of heterozygous and homozygous CALR mutations and provide a powerful model for dissecting the pathogenesis of CALR-mutant ET and PMF. © 2018 by The American Society of Hematology.

  20. Evaluación de la utilidad diagnóstica de la versión española del cuestionario al informador «AD8»☆

    PubMed Central

    Pardo, C. Carnero; de la Vega Cotarelo, R.; Alcalde, S. López; Aparicio, C. Martos; Carrillo, R. Vílchez; Gavilán, E. Mora; Galvin, J.E.

    2012-01-01

    Introducción El AD8 es un cuestionario al informador breve que puede ser autoaplicado y facilita la identificación de deterioro cognitivo (DC); nuestro objetivo es evaluar la utilidad diagnóstica (UD) de una versión española. Material y métodos Estudio transversal en una muestra clínica de díadas paciente/ informador, 330 sujetos con sospecha de DC o demencia (DEM) y 71 controles. Se ha evaluado la consistencia interna (α de Cronbach) y la validez (correlaciones parciales con estadio GDS, Fototest e índice funcional [IF]). La UD se ha evaluado para no DC vs DC (GDS 3–4) por medio del área bajo la curva ROC (aROC) y se ha considerado mejor punto de corte aquel que hacía máximo el índice de Youden. Resultados En la muestra, 105 no tenían DC, 99 tenían DC sin DEM y 203 DEM. La consistencia interna es alta (α 0,90, IC del 95%, 0,89–0,92), al igual que las correlaciones con GDS (r = 0,72, p < 0,001), Fototest (r = −0,61, p < 0,001) e IF (r = 0,59, p < 0,001). El aROC del AD8 es 0,90 (IC del 95%, 0,86–0,93), sin diferencia significativa con la del Fototest (aROC 0,93, IC del 95%, 0,89–0,96); el mejor punto de corte es 3/4 con sensibilidad de 0,93 (IC del 95%, 0,88–0,96), especificidad de 0,81 (IC del 95%, 0,72–0,88) y el 88,8% de las clasificaciones correctas. El uso conjunto de AD8 y Fototest mejora de forma significativa la UD de ambos (aROC 0,96, IC del 95%, 0,93–0,98, p < 0,05). Conclusiones La versión española del AD8 conserva las cualidades psicométricas y la UD de la versión original; su uso combinado con el Fototest mejora de forma significativa la UD de ambos. PMID:22652137

  1. VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1

    PubMed Central

    Ren, Hong Yu; Grove, Diane E.; De La Rosa, Oxana; Houck, Scott A.; Sopha, Pattarawut; Van Goor, Fredrick; Hoffman, Beth J.; Cyr, Douglas M.

    2013-01-01

    Cystic fibrosis (CF) is a fatal genetic disorder associated with defective hydration of lung airways due to the loss of chloride transport through the CF transmembrane conductance regulator protein (CFTR). CFTR contains two membrane-spanning domains (MSDs), two nucleotide-binding domains (NBDs), and a regulatory domain, and its channel assembly requires multiple interdomain contacts. The most common CF-causing mutation, F508del, occurs in NBD1 and results in misfolding and premature degradation of F508del-CFTR. VX-809 is an investigational CFTR corrector that partially restores CFTR function in people who are homozygous for F508del-CFTR. To identify the folding defect(s) in F508del-CFTR that must be repaired to treat CF, we explored the mechanism of VX-809 action. VX-809 stabilized an N-terminal domain in CFTR that contains only MSD1 and efficaciously restored function to CFTR forms that have missense mutations in MSD1. The action of VX-809 on MSD1 appears to suppress folding defects in F508del-CFTR by enhancing interactions among the NBD1, MSD1, and MSD2 domains. The ability of VX-809 to correct F508del-CFTR is enhanced when combined with mutations that improve F508del-NBD1 interaction with MSD2. These data suggest that the use of VX-809 in combination with an additional CFTR corrector that suppresses folding defects downstream of MSD1 may further enhance CFTR function in people with F508del-CFTR. PMID:23924900

  2. VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

    PubMed

    Ren, Hong Yu; Grove, Diane E; De La Rosa, Oxana; Houck, Scott A; Sopha, Pattarawut; Van Goor, Fredrick; Hoffman, Beth J; Cyr, Douglas M

    2013-10-01

    Cystic fibrosis (CF) is a fatal genetic disorder associated with defective hydration of lung airways due to the loss of chloride transport through the CF transmembrane conductance regulator protein (CFTR). CFTR contains two membrane-spanning domains (MSDs), two nucleotide-binding domains (NBDs), and a regulatory domain, and its channel assembly requires multiple interdomain contacts. The most common CF-causing mutation, F508del, occurs in NBD1 and results in misfolding and premature degradation of F508del-CFTR. VX-809 is an investigational CFTR corrector that partially restores CFTR function in people who are homozygous for F508del-CFTR. To identify the folding defect(s) in F508del-CFTR that must be repaired to treat CF, we explored the mechanism of VX-809 action. VX-809 stabilized an N-terminal domain in CFTR that contains only MSD1 and efficaciously restored function to CFTR forms that have missense mutations in MSD1. The action of VX-809 on MSD1 appears to suppress folding defects in F508del-CFTR by enhancing interactions among the NBD1, MSD1, and MSD2 domains. The ability of VX-809 to correct F508del-CFTR is enhanced when combined with mutations that improve F508del-NBD1 interaction with MSD2. These data suggest that the use of VX-809 in combination with an additional CFTR corrector that suppresses folding defects downstream of MSD1 may further enhance CFTR function in people with F508del-CFTR.

  3. Manipulating proteostasis to repair the F508del-CFTR defect in cystic fibrosis.

    PubMed

    Esposito, Speranza; Tosco, Antonella; Villella, Valeria R; Raia, Valeria; Kroemer, Guido; Maiuri, Luigi

    2016-12-01

    Cystic fibrosis (CF) is a lethal monogenic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that entails the (diagnostic) increase in sweat electrolyte concentrations, progressive lung disease with chronic inflammation and recurrent bacterial infections, pancreatic insufficiency, and male infertility. Therapies aimed at restoring the CFTR defect have emerged. Thus, a small molecule which facilitates chloride channel opening, the potentiator Ivacaftor, has been approved for the treatment of CF patients bearing a particular class of rare CFTR mutations. However, small molecules that directly target the most common misfolded CFTR mutant, F508del, and improve its intracellular trafficking in vitro, have been less effective than expected when tested in CF patients, even in combination with Ivacaftor. Thus, new strategies are required to circumvent the F508del-CFTR defect. Airway and intestinal epithelial cells from CF patients bearing the F508del-CFTR mutation exhibit an impressive derangement of cellular proteostasis, with oxidative stress, overactivation of the tissue transglutaminase (TG2), and disabled autophagy. Proteostasis regulators such as cysteamine can rescue and stabilize a functional F508del-CFTR protein through suppressing TG2 activation and restoring autophagy in vivo in F508del-CFTR homozygous mice, in vitro in CF patient-derived cell lines, ex vivo in freshly collected primary patient's nasal cells, as well as in a pilot clinical trial involving homozygous F508del-CFTR patients. Here, we discuss how the therapeutic normalization of defective proteostasis can be harnessed for the treatment of CF patients with the F508del-CFTR mutation.

  4. Genetic modifiers of CHEK2*1100delC associated breast cancer risk

    PubMed Central

    Muranen, Taru A.; Greco, Dario; Blomqvist, Carl; Aittomäki, Kristiina; Khan, Sofia; Hogervorst, Frans; Verhoef, Senno; Pharoah, Paul D.P.; Dunning, Alison M.; Shah, Mitul; Luben, Robert; Bojesen, Stig E.; Nordestgaard, Børge G.; Schoemaker, Minouk; Swerdlow, Anthony; García-Closas, Montserrat; Figueroa, Jonine; Dörk, Thilo; Bogdanova, Natalia V.; Hall, Per; Li, Jingmei; Khusnutdinova, Elza; Bermisheva, Marina; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Peto, Julian; dos Santos Silva, Isabel; Couch, Fergus J.; Olson, Janet E.; Hillemans, Peter; Park-Simon, Tjoung-Won; Brauch, Hiltrud; Hamann, Ute; Burwinkel, Barbara; Marme, Frederik; Meindl, Alfons; Schmutzler, Rita K.; Cox, Angela; Cross, Simon S.; Sawyer, Elinor J.; Tomlinson, Ian; Lambrechts, Diether; Moisse, Matthieu; Lindblom, Annika; Margolin, Sara; Hollestelle, Antoinette; Martens, John W.M.; Fasching, Peter A.; Beckmann, Matthias W.; Andrulis, Irene L.; Knight, Julia A.; Anton-Culver, Hoda; Ziogas, Argyrios; Giles, Graham G.; Milne, Roger L.; Brenner, Hermann; Arndt, Volker; Mannermaa, Arto; Kosma, Veli-Matti; Chang-Claude, Jenny; Rudolph, Anja; Devilee, Peter; Seynaeve, Caroline; Hopper, John L.; Southey, Melissa C.; John, Esther M.; Whittemore, Alice S.; Bolla, Manjeet K.; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Easton, Douglas F.; Schmidt, Marjanka K.; Nevanlinna, Heli

    2016-01-01

    Purpose CHEK2*1100delC is a founder variant in European populations conferring a 2–3 fold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). Methods With genotype data of 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction. Results The PRS conferred an odds ratio (OR) of 1.59 [95% CI 1.21–2.09] per standard deviation for BC for CHEK2*1100delC carriers and 1.58 [1.55–1.62] for non-carriers. No evidence for deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 [0.86–4.78] for CHEK2*1100delC carriers placing them to the high risk category according to UK NICE guidelines. OR for the lowest quintile was 0.52 [0.16–1.74], indicating life-time risk close to population average. Conclusion Our results confirm the multiplicative nature of risk effects conferred by CHEK2*1100delC and the common susceptibility variants. Furthermore, the PRS could identify the carriers at a high life-time risk for clinical actions. PMID:27711073

  5. Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.

    PubMed

    Muranen, Taru A; Greco, Dario; Blomqvist, Carl; Aittomäki, Kristiina; Khan, Sofia; Hogervorst, Frans; Verhoef, Senno; Pharoah, Paul D P; Dunning, Alison M; Shah, Mitul; Luben, Robert; Bojesen, Stig E; Nordestgaard, Børge G; Schoemaker, Minouk; Swerdlow, Anthony; García-Closas, Montserrat; Figueroa, Jonine; Dörk, Thilo; Bogdanova, Natalia V; Hall, Per; Li, Jingmei; Khusnutdinova, Elza; Bermisheva, Marina; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Investigators, Nbcs; Peto, Julian; Dos Santos Silva, Isabel; Couch, Fergus J; Olson, Janet E; Hillemans, Peter; Park-Simon, Tjoung-Won; Brauch, Hiltrud; Hamann, Ute; Burwinkel, Barbara; Marme, Frederik; Meindl, Alfons; Schmutzler, Rita K; Cox, Angela; Cross, Simon S; Sawyer, Elinor J; Tomlinson, Ian; Lambrechts, Diether; Moisse, Matthieu; Lindblom, Annika; Margolin, Sara; Hollestelle, Antoinette; Martens, John W M; Fasching, Peter A; Beckmann, Matthias W; Andrulis, Irene L; Knight, Julia A; Investigators, kConFab/Aocs; Anton-Culver, Hoda; Ziogas, Argyrios; Giles, Graham G; Milne, Roger L; Brenner, Hermann; Arndt, Volker; Mannermaa, Arto; Kosma, Veli-Matti; Chang-Claude, Jenny; Rudolph, Anja; Devilee, Peter; Seynaeve, Caroline; Hopper, John L; Southey, Melissa C; John, Esther M; Whittemore, Alice S; Bolla, Manjeet K; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Easton, Douglas F; Schmidt, Marjanka K; Nevanlinna, Heli

    2017-05-01

    CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction. The PRS conferred odds ratios (OR) of 1.59 (95% CI: 1.21-2.09) per standard deviation for BC for CHEK2*1100delC carriers and 1.58 (1.55-1.62) for noncarriers. No evidence of deviation from the multiplicative model was found. The OR for the highest quintile of the PRS was 2.03 (0.86-4.78) for CHEK2*1100delC carriers, placing them in the high risk category according to UK NICE guidelines. The OR for the lowest quintile was 0.52 (0.16-1.74), indicating a lifetime risk close to the population average. Our results confirm the multiplicative nature of risk effects conferred by CHEK2*1100delC and the common susceptibility variants. Furthermore, the PRS could identify carriers at a high lifetime risk for clinical actions.Genet Med advance online publication 06 October 2016.

  6. DELIVERING TIMELY AIR QUALITY, TRAFFIC, AND WEATHER INFORMATION TO YOUR COMMUNITY/THE PASO DEL NORTE ENVIRONMENTAL MONITORING PROJECT

    EPA Science Inventory

    EPA has developed a technology transfer handbook for the EMPACT Paso del Norte Project. The EMPACT Paso del Norte Environmental Monitoring Project is a mobile vehicle emissions project that involves the international community of El Paso, TX; Sundland Park, NM; and Juarez, Mexico...

  7. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 33 Navigation and Navigable Waters 1 2013-07-01 2013-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  8. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  9. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 33 Navigation and Navigable Waters 1 2011-07-01 2011-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  10. 33 CFR 110.65 - Indian River Bay, Del.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 33 Navigation and Navigable Waters 1 2014-07-01 2014-07-01 false Indian River Bay, Del. 110.65... ANCHORAGE REGULATIONS Special Anchorage Areas § 110.65 Indian River Bay, Del. Beginning at a point bearing... State highway bridge across Indian River Inlet; thence 174°, 600 feet; thence 264°, 800 feet; thence 354...

  11. 63. G.F.H., photographer July 30, 1932 DEL NORTE COUNTY, SECTION ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    63. G.F.H., photographer July 30, 1932 DEL NORTE COUNTY, SECTION A, HIGHWAY 1. 1-DN A #124, STA. 164=00 SHOWING DRAINAGE CONDITIONS, G.F.H., 7-30-32. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA

  12. Analisis espacial de las areas protegidas terrestres de Puerto Rico

    Treesearch

    M. Quinones; W.A. Gould; J. Castro-Prieto; S. Martinuzzi

    2013-01-01

    En este mapa de investigacion describimos las areas protegidas terrestres de Puerto Rico basado en elementos naturales y antropogenicos del paisaje. Utilizamos datos geoespaciales para calcular la extension y representatividad de elementos del paisaje dentro de las areas protegidas de Puerto Rico, i.e., cobertura del terreno (Gould et al. 2007), asentamientos urbanos...

  13. Defense.gov - Dignity, Honor, Respect - For the Fallen

    Science.gov Websites

    combat operation passes through Dover Air Force Base, Del. The responsibility, and honor, of preparing Operations Center. Stories Dignified Transfer Pays Tribute to Fallen DOVER AIR FORCE BASE, Del., March 12 vehicle to the Air Force Mortuary Affairs Operations Center at Dover Air Force Base, Del. Story Center

  14. Ecuadorean-Peruvian Rivalry in the Upper Amazon,

    DTIC Science & Technology

    1978-01-01

    8217 y el Ecuador. Documentos anexos a la Memoria del Per. Madrid, 1903. Vol. III, Document 86- p. 216 ff. 2. Jorge W. Villacres Moscoso, Historia...AMISTAD Y LIMITES ENTRE PERU Y ECUADOR Los Gobiernos del Peru’ y del Ecuador, deseando dar solucior. a la cuestic~n de Ifmites que por largo tiempo los

  15. Ácaros del mango

    USDA-ARS?s Scientific Manuscript database

    Los ácaros constituyen un grupo abundante y diverso que ocupa diferentes hábitats en árboles frutales y la estructura y disposición del follaje y ramas del mango, contribuyen significativamente a que se presente gran diversidad de ácaros benéficos y dañinos asociados a esta especie frutal. En Colomb...

  16. 33 CFR 334.110 - Delaware Bay off Cape Henlopen, Del.; naval restricted area.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ..., Del.; naval restricted area. 334.110 Section 334.110 Navigation and Navigable Waters CORPS OF....110 Delaware Bay off Cape Henlopen, Del.; naval restricted area. (a) The area. Beginning at a point on... regulations in this section shall be enforced by the Commandant, Fourth Naval District, and such agencies as...

  17. [Recommendations to improve the scientific communication process in the Revista Médica del IMSS].

    PubMed

    Álvarez, Ivón

    2016-01-01

    In order to improve the position of the Revista Médica del Instituto Mexicano del Seguro Social among the different journals, in this editorial we enumerate a series of recommendations to ameliorate the practices of the different actors who participate in the scientific communication process of this journal.

  18. Modeling landscapes and past vegetation patterns of New Mexico's Rio Del Oso Valley

    Treesearch

    Richard D. Periman

    2005-01-01

    Humans have interacted with the landscape and ecosystem of New Mexico's Rio del Oso Valley for thousands of years. Throughout the Holocene, various cultures have dramatically affected and altered the Rio del Oso. An interdisciplinary research approach, incorporating geomorphology, paleobotany, archaeology, and history, provides a broad range of methodologies and...

  19. Atypical E2F transcriptional repressor DEL1 acts at the intersection of plant growth and immunity by controlling the hormone salicylic acid.

    PubMed

    Chandran, Divya; Rickert, Joshua; Huang, Yingxiang; Steinwand, Michael A; Marr, Sharon K; Wildermuth, Mary C

    2014-04-09

    In plants, the activation of immunity is often inversely correlated with growth. Mechanisms that control plant growth in the context of pathogen challenge and immunity are unclear. Investigating Arabidopsis infection with the powdery mildew fungus, we find that the Arabidopsis atypical E2F DEL1, a transcriptional repressor known to promote cell proliferation, represses accumulation of the hormone salicylic acid (SA), an established regulator of plant immunity. DEL1-deficient plants are more resistant to pathogens and slightly smaller than wild-type. The resistance and size phenotypes of DEL1-deficient plants are due to the induction of SA and activation of immunity in the absence of pathogen challenge. Moreover, Enhanced Disease Susceptibility 5 (EDS5), a SA transporter required for elevated SA and immunity, is a direct repressed target of DEL1. Together, these findings indicate that DEL1 control of SA levels contributes to regulating the balance between growth and immunity in developing leaves. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. [La diagnosi del disturbo da uso di alcol dal punto di vista psicologico].

    PubMed

    Coriale, Giovanna; Fiorentino, Daniela; Porrari, Raffaella; Battagliese, Gemma; Capriglione, Ida; Cereatti, Federica; Iannuzzi, Silvia; Mauri, Benilde; Galli, Domenica; Fiore, Marco; Attilia, Maria Luisa; Ceccanti, Mauro

    2018-01-01

    RIASSUNTO. Il disturbo da uso di alcol (DUA) è uno dei disturbi psichiatrici più comuni nella popolazione generale. Il DUA è caratterizzato da un pattern di bere eccessivo, che si mantiene nonostante gli effetti negativi che l'alcol ha sul funzionamento lavorativo, sulla salute, sulle problematiche legali, sull'educazione e sulla vita sociale. Attualmente, il modello bio-psico-sociale è quello che spiega meglio il DUA. Infatti, molte ricerche hanno fornito evidenze su come il DUA sia una patologia multidimensionale. Variabili biologiche, psicologiche e socio-culturali entrano in gioco nell'eziologia, nella natura, nel mantenimento e nel cambiamento nel tempo del disturbo. La fase diagnostica è un momento importante del processo di cura, perché il successo del trattamento dipende in larga misura dall'esattezza e dall'adeguatezza della diagnosi. La diagnosi clinica si basa su una valutazione globale del funzionamento del paziente e utilizza il colloquio e gli strumenti psicometrici come mezzo di raccolta di informazioni. Questo articolo fornirà una panoramica delle dimensioni psicologiche più importanti da valutare e sui migliori strumenti psicometrici da usare per una diagnosi adeguata.

  1. Medición de densidades medias de meteoritos: test del método de inmersión

    NASA Astrophysics Data System (ADS)

    Steren, G.

    Se evaluó una técnica simple para medir las densidades medias de meteoritos, basada en el Método de Arquímedes y que utiliza cuentas de vidrio de 40μ en lugar de un fluído esto presenta la ventaja de no ser intrusivo ni químicamente reactivo (D.Britt and G.Consolmagno, 1996, B.A.A.S.28,1106). El estudio, realizado en junio de este año por participantes de la VI Escuela de Verano del Observatorio del Vaticano, empleó 37 muestras de la colección del Observatorio del Vaticano, de las cuales 26 eran Condritas, 1 Pallasita y 1 Howardita; algunas de ellas ya habian sido estudiadas por otras técnicas aunque también se incluyeron muestras no estudiadas anteriormente.

  2. [Not Available].

    PubMed

    Chivu, Elena Cristina; Artero-Fullana, Ana; Alfonso García, Antonio; Sánchez Juan, Carlos

    2016-07-19

    Introducción: conociendo la elevada prevalencia de la desnutrición hospitalaria, se hace necesaria su detección precoz. Cuando, por diversos motivos, no es posible realizar una valoración completa del estado nutricional, se recomienda el empleo de herramientas validadas de cribado nutricional. Estas ayudarían a detectar de forma rápida a aquellos pacientes que necesiten de un tratamiento nutricional.Objetivos: determinar la prevalencia del riesgo de desnutrición, en el Hospital General Universitario de Valencia, empleando para ello la herramienta de cribado nutricional HEMAN y comprobar si la implementación de esta herramienta en la práctica clínica, sería lo más adecuado.Métodos: estudio transversal, realizado sobre una muestra de 1.099 pacientes ingresados en un hospital terciario. A todos ellos se les realizó el cribado nutricional HEMAN a las 24-48 horas del ingreso. Las variables cualitativas se compararon mediante Chi-cuadrado, y las cuantitativas mediante el test t de Student.Resultados: la prevalencia del riesgo de desnutrición fue del 33,5%. Los pacientes que resultaron positivos en el cribado (HEMAN ≥ 3), tenían mayor edad que los pacientes normonutridos, referían pérdidas de peso entre el 5-10%, el 55,2% disminuyó su ingesta a menos del 50% de la habitual. Además, ingresaron con patologías consideradas de leves a moderadas. La utilización del método HEMAN como herramienta de cribado, resultó ser práctica y efectiva, y ayudó a disminuir el tiempo empleado con cada paciente encuestado evaluado.Conclusiones: se detectó una elevada prevalencia de riesgo de desnutrición entre los pacientes evaluados, por lo tanto se hace imprescindible la utilización de métodos de cribado nutricional en la rutina diaria del hospital, para ello recomendamos especialmente la utilización del método HEMAN.

  3. Restoration of R117H CFTR folding and function in human airway cells through combination treatment with VX-809 and VX-770

    PubMed Central

    Gentzsch, Martina; Ren, Hong Y.; Houck, Scott A.; Quinney, Nancy L.; Cholon, Deborah M.; Sopha, Pattarawut; Chaudhry, Imron G.; Das, Jhuma; Dokholyan, Nikolay V.; Randell, Scott H.

    2016-01-01

    Cystic fibrosis (CF) is a lethal recessive genetic disease caused primarily by the F508del mutation in the CF transmembrane conductance regulator (CFTR). The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D. Orkambi is a drug containing VX-770 and corrector VX809 and is approved for treatment of CF patients homozygous for F508del, which has folding and gating defects. At least 30% of CF patients are heterozygous for the F508del mutation with the other allele encoding for one of many different rare CFTR mutations. Treatment of heterozygous F508del patients with VX-809 and VX-770 has had limited success, so it is important to identify heterozygous patients that respond to CFTR modulator therapy. R117H is a more prevalent rare mutation found in over 2,000 CF patients. In this study we investigated the effectiveness of VX-809/VX-770 therapy on restoring CFTR function in human bronchial epithelial (HBE) cells from R117H/F508del CF patients. We found that VX-809 stimulated more CFTR activity in R117H/F508del HBEs than in F508del/F508del HBEs. R117H expressed exclusively in immortalized HBEs exhibited a folding defect, was retained in the ER, and degraded prematurely. VX-809 corrected the R117H folding defect and restored channel function. Because R117 is involved in ion conductance, VX-770 acted additively with VX-809 to restore CFTR function in chronically treated R117H/F508del cells. Although treatment of R117H patients with VX-770 has been approved, our studies indicate that Orkambi may be more beneficial for rescue of CFTR function in these patients. PMID:27402691

  4. Restoration of R117H CFTR folding and function in human airway cells through combination treatment with VX-809 and VX-770.

    PubMed

    Gentzsch, Martina; Ren, Hong Y; Houck, Scott A; Quinney, Nancy L; Cholon, Deborah M; Sopha, Pattarawut; Chaudhry, Imron G; Das, Jhuma; Dokholyan, Nikolay V; Randell, Scott H; Cyr, Douglas M

    2016-09-01

    Cystic fibrosis (CF) is a lethal recessive genetic disease caused primarily by the F508del mutation in the CF transmembrane conductance regulator (CFTR). The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D. Orkambi is a drug containing VX-770 and corrector VX809 and is approved for treatment of CF patients homozygous for F508del, which has folding and gating defects. At least 30% of CF patients are heterozygous for the F508del mutation with the other allele encoding for one of many different rare CFTR mutations. Treatment of heterozygous F508del patients with VX-809 and VX-770 has had limited success, so it is important to identify heterozygous patients that respond to CFTR modulator therapy. R117H is a more prevalent rare mutation found in over 2,000 CF patients. In this study we investigated the effectiveness of VX-809/VX-770 therapy on restoring CFTR function in human bronchial epithelial (HBE) cells from R117H/F508del CF patients. We found that VX-809 stimulated more CFTR activity in R117H/F508del HBEs than in F508del/F508del HBEs. R117H expressed exclusively in immortalized HBEs exhibited a folding defect, was retained in the ER, and degraded prematurely. VX-809 corrected the R117H folding defect and restored channel function. Because R117 is involved in ion conductance, VX-770 acted additively with VX-809 to restore CFTR function in chronically treated R117H/F508del cells. Although treatment of R117H patients with VX-770 has been approved, our studies indicate that Orkambi may be more beneficial for rescue of CFTR function in these patients. Copyright © 2016 the American Physiological Society.

  5. Estudio de la fotoabsorción y fotoionización de la molécula de alta relevancia atmosférica no a través de los estados Rydberg con la metodología MQDO

    NASA Astrophysics Data System (ADS)

    Bustos, E.; Velasco, A. M.; Martín, I.; Lavín, C.

    Los procesos de fotoionización son de una importancia fundamental [1] y encuentran aplicación en un gran número de contextos científicos: Astrofísica [2], química de las radiaciones, biología. Los investigadores de dichos campos, necesitan de valores de fiables de secciones eficaces para la fotoionización parcial, la Fotoabsorción, así como para los procesos de fotofragmentación en amplios intervalos espectrales, particularmente en estudios de modelización [3-5]. En este trabajo se ha centrado la atención sobre el oxido nítrico, que se ha considerado apropiado y relevante por varios motivos: por el trascendental papel que representa en la física y química de la alta atmosfera [6], aparte de por estar íntimamente relacionado con los problemas de contaminación. Los procesos de recombinación disociativa [7] del NO, donde los estados Rydberg se encuentran directamente implicados, son relevantes, por ejemplo, en las regiones E y F de la ionosfera [7]. En este trabajo se estudia la fotoionización del NO desde el estado fundamental con la versión molecular del método del orbital de defecto cuántico (MQDO). Para ello se calcula el diferencial de las fuerzas de oscilador parciales que constituyen los canales de fotoionización del NO desde el estado fundamental. La continuidad del diferencial de fuerza de oscilador calculada a través del umbral de fotoionización, esto es, en las regiones del espectro discreta y del continua, se adopta como criterio de calidad la escasez de datos comparativos [8].

  6. Extensión del Formalismo de Orbitales de Defecto Cuántico al tratamiento del efecto Stark (SQDO).

    NASA Astrophysics Data System (ADS)

    Menéndez, J. M.; Martín, I.; Velasco, A. M.

    El estudio experimental de las interacciones de átomos Rydberg altamente excitados con campos eléctricos ha experimentado un creciente interés durante las dos últimas décadas debido, en gran medida, al desarrollo de nuevas técnicas para crear y estudiar átomos Rydberg en el laboratorio. Acompañando a estas nuevas técnicas experimentales, es necesario el desarrollo de modelos teóricos que nos permitan contrastar sus medidas y conocer mejor los fundamentos de los mismos. Desde el punto de vista teórico el conocimiento del desdoblamiento de los niveles energéticos de un átomo en función de la magnitud del campo eléctrico aplicado (lo que se conoce como mapa Stark) es el mejor punto de partida para la descripción del sistema y un prerrequisito fundamental para el cálculo de distintas propiedades atómicas en presencia del campo eléctrico tales como intensidades de transición, umbrales de ionización de campo eléctrico, tiempos de vida, posición y anchura de cruces evitados, etc. En este trabajo presentamos la adaptación del método de orbitales de defecto cuántico [1,2,3] al tratamiento del efecto Stark (SQDO) [4] y su aplicación al cálculo de los desdoblamientos energéticos y fuerzas de oscilador de estados Rydberg en los átomos de Li, Na y K. El propósito de este estudio es, por un lado, desarrollar métodos fiables para la determinación de propiedades atómicas en presencia de campos eléctricos y, por otro, mostrar la fiabilidad de las funciones de onda QDO en la descripción del efecto Stark en sistemas atómicos.

  7. [In Process Citation].

    PubMed

    Caravalí-Meza, Nuris Yohana; Jiménez-Cruz, Arturo; Bacardí-Gascón, Montserrat

    2016-03-25

    Antecedentes: se ha reportado una asociación entre el aumento del consumo de bebidas azucaradas y varias enfermedades metabólicas. Objetivo: evaluar el efecto del consumo de bebidas azucaradas sobre la obesidad en un periodo de 12 meses en mexicanos de 15 a 19 años. Métodos: el diseño del estudio fue prospectivo, con 12 meses de seguimiento. Se midieron el peso, la talla y la circunferencia de cintura (CC), y se calculó el puntaje z de índice de masa corporal (IMC). Se aplicó un cuestionario sobre consumo de 19 bebidas. Para evaluar la predicción del aumento de IMC y de CC como resultado del consumo de bebidas, se utilizó análisis de regresión logística binomial. Resultados: al final del estudio se evaluó al 89% (1.344). El promedio de edad fue de 15 años, 55% fueron mujeres. La prevalencia de sobre- peso y obesidad al final del estudio fue del 33%. Al final del estudio, un 25% de los participantes consumían más de 50 g de azúcar proveniente de las bebidas. Quienes consumieron 50 g de azúcar o más al día presentaron mayor riesgo de aumentar la CC ≥ 2 cm (RR = 1,19, IC 95%, 1,03-1,39, p = 0,02). Quienes mantuvieron el consumo de bebidas azucaradas durante 12 meses, al compararlo con los que disminuyeron el consumo a 10 g/día, presentaron 71% más probabilidades de aumentar a un puntaje de IMC ≥ 2 (RR = 1,71, IC 95%, 1,03-2,86, p = 0,039). Conclusión: el alto consumo de bebidas azucaradas aumentó las probabilidades de aumentar de peso y de circunferencia de cintura.

  8. Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR.

    PubMed

    Donaldson, Scott H; Pilewski, Joseph M; Griese, Matthias; Cooke, Jon; Viswanathan, Lakshmi; Tullis, Elizabeth; Davies, Jane C; Lekstrom-Himes, Julie A; Wang, Linda T

    2018-01-15

    Tezacaftor (formerly VX-661) is an investigational small molecule that improves processing and trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) in vitro, and improves CFTR function alone and in combination with ivacaftor. To evaluate the safety and efficacy of tezacaftor monotherapy and of tezacaftor/ivacaftor combination therapy in subjects with cystic fibrosis homozygous for F508del or compound heterozygous for F508del and G551D. This was a randomized, placebo-controlled, double-blind, multicenter, phase 2 study (NCT01531673). Subjects homozygous for F508del received tezacaftor (10 to 150 mg) every day alone or in combination with ivacaftor (150 mg every 12 h) in a dose escalation phase, as well as in a dosage regimen testing phase. Subjects compound heterozygous for F508del and G551D, taking physician-prescribed ivacaftor, received tezacaftor (100 mg every day). Primary endpoints were safety through Day 56 and change in sweat chloride from baseline through Day 28. Secondary endpoints included change in percent predicted FEV 1 (ppFEV 1 ) from baseline through Day 28 and pharmacokinetics. The incidence of adverse events was similar across treatment arms. Tezacaftor (100 mg every day)/ivacaftor (150 mg every 12 h) resulted in a 6.04 mmol/L decrease in sweat chloride and 3.75 percentage point increase in ppFEV 1 in subjects homozygous for F508del, and a 7.02 mmol/L decrease in sweat chloride and 4.60 percentage point increase in ppFEV 1 in subjects compound heterozygous for F508del and G551D from baseline through Day 28 (P < 0.05 for all). These results support continued clinical development of tezacaftor (100 mg every day) in combination with ivacaftor (150 mg every 12 h) in subjects with cystic fibrosis. Clinical trial registered with www.clinicaltrials.gov (NCT01531673).

  9. Polymorphism of the NFKB1 affects the serum inflammatory levels of IL-6 in Hashimoto thyroiditis in a Turkish population.

    PubMed

    Koc, Arzuhan; Batar, Bahadir; Celik, Ozlem; Onaran, Ilhan; Tasan, Ertugrul; Sultuybek, Gonul Kanigur

    2014-07-01

    Hashimoto thyroiditis (HT) is a chronic inflammatory autoimmune disease of thyroid gland affected by interaction of multiple genes and various cytokines. Variants in the genes coding for the NFKB and IKB proteins can be potentially involved in the development of the inflammatory diseases. NFKB, a key transcription factor of the regulation of immune responses, is interesting candidate for association studies about autoimmune disorder. The aim of the present study was to investigate the relationship between NFKB1 and NFKBIA (NFKB1 inhibitor gene) polymorphisms, and the risk of HT in a Turkish Population in the context of IL-6 serum levels which may contribute to susceptibility to the disease. We analyzed the distribution of NFKB1-94ins/del ATTG and NFKBIA 3'UTR A→G polymorphisms using PCR-RFLP method and IL-6 serum levels using ELISA method in 120 HT patients and 190 healthy controls in Turkish population. Although, there was no statistical significant difference in distribution of the genotypes and alleles of NFKB1-94ins/del ATTG or NFKBIA 3'UTR A→G polymorphisms in patients and control subjects as single, ins/ins/GG combined genotype had protective effect on the disease when compared to ins/ins/AG combined genotype as combined genotypes of both polymorphisms. In addition to this finding, IL-6 serum levels in HT patients with del/del genotype were significantly higher than in patients with del/ins genotype (p<0.001). According to the combined genotype analysis of NFKB1-94ins/del ATTG and NFKBIA 3'UTR A→G polymorphisms, IL-6 levels were also higher in patients with del/del genotype when at least one G allele existing (p=0.007). Therefore, our findings suggest that the functional promoter NFKB1-94ins/del ATTG polymorphism was significantly associated with population HT disease through acting by directly modulating IL-6 serum levels. Copyright © 2014 Elsevier GmbH. All rights reserved.

  10. Manual del McVCO 1999

    USGS Publications Warehouse

    McChesney, P.J.

    1999-01-01

    El McVCO es un generador de frecuencias basado en un microcontrolador que reemplaza al oscilador controlado por voltaje (VCO) utilizado en telemetría analógica de datos sísmicas. Acepta señales de baja potencia desde un sismómetro y produce una señal subportadora modulada en frecuencia adecuada para enlaces telefónicos o vía radio a un lugar remoto de recolección de datos. La frecuencia de la subportadora y la ganancia pueden ser seleccionadas mediante un interruptor. Tiene la opción de poder operar con dos canales para la observación con ganancia alta y baja. El McVCO fue diseñado con el propósito de mejorar la telemetría analógica de las señales dentro de la Pacific Northwest Seismograph Network (PNSN) (Red Sismográfica del Noroeste del Pacífico). Su desarrollo recibió el respaldo del Programa de Geofísica de la Universidad de Washington y del "Volcano Hazards and Earthquake Hazards programs of the United States Geological Survey (USGS) (Programa de Investigaciones de Riesgos Volcánicos y Programa de Investigaciones de Riesgos Sísmicos de los EEUU). Cientos de instrumentos se han construido e instalado. Además de utilizarlo el PNSN, el McVCO es usado por el Observatorio Vulcanológico de Alaska para monitorear los volcanes aleutianos y por el USGS Volcano Disaster Assistance Program (Programa de Ayuda en las Catástrofes Volcánicas del USGS) para responder a crisis volcánicas en otros países. Este manual cubre el funcionamiento del McVCO, es una referencia técnica para aquellos que necesitan saber con más detalle cómo funciona el McVCO, y cubre una serie de temas que requieren un trato explícito o que derivan del despliegue del instrumento.

  11. Analysis of density and epitopes of D antigen on the surface of erythrocytes from DEL phenotypic individuals carrying the RHD1227A allele.

    PubMed

    Gu, Juan; Sun, An-Yuan; Wang, Xue-Dong; Shao, Chao-Peng; Li, Zheng; Huang, Li-Hua; Pan, Zhao-Lin; Wang, Qing-Ping; Sun, Guang-Ming

    2014-04-01

    The characteristics of the D antigen are important as they influence the immunogenicity of D variant cells. Several studies on antigenic sites have been reported in normal D positive, weak D and partial D cases, including a comprehensive analysis of DEL types in Caucasians. The aim of this study was to assess D antigen density and epitopes on the erythrocyte surface of Asian type DEL phenotypic individuals carrying the RHD1227A allele in the Chinese population. A total of 154 DEL phenotypic individuals carrying the RHD1227A allele were identified through adsorption and elution tests and polymerase chain reaction analysis with sequence-specific primers in the Chinese population. D antigen density on the erythrocyte surface of these individuals was detected using a flow cytometric method. An erythrocyte sample with known D antigen density was used as a standard. Blood samples from D-negative and D-positive individuals were used as controls. In addition, D antigen epitopes on the erythrocyte surface of DEL individuals carrying the RHD1227A allele were investigated with 18 monoclonal anti-D antibodies specific for different D antigen epitopes. The means of the median fluorescence intensity of D antigen on the erythrocyte membrane surface of D-negative, D-positive and DEL individuals were 2.14±0.25, 193.61±11.43 and 2.45±0.82, respectively. The DEL samples were estimated to have approximately 22 D antigens per cell. The samples from all 154 DEL individuals reacted positively with 18 monoclonal anti-D antibodies specific for different D antigen epitopes. In this study, D antigen density on the erythrocyte surface of DEL individuals carrying the RHD1227A allele was extremely low, there being only very few antigenic molecules per cell, but the D antigen epitopes were grossly complete.

  12. The CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the latvian population.

    PubMed

    Plonis, J; Kalniete, D; Nakazawa-Miklasevica, M; Irmejs, A; Vjaters, E; Gardovskis, J; Miklasevics, E

    2015-12-01

    Our objective was to determine: 1) whether the checkpoint kinase 2 ( CHEK2 ) del5395 (g.27417113-27422508 del, NC_000022.11) is a founder mutation in the Latvian population, 2) if there is an association between CHEK2 del5395 mutation and cancer risk, and 3) and whether the CHEK2 del5395 mutation impacts cancer predisposition in Chernobyl disaster liquidators (the civil and military personnel who were called upon to deal with consequences of the 1986 nuclear disaster) as well as geriatric populations. We recruited 438 breast cancer patients, 568 colorectal cancer patients, 399 ovarian cancer patients, 419 prostate cancer patients, 526 healthy blood donors, 480 Chernobyl disaster liquidators and 444 geriatric cancer-free participants. DNA samples were isolated from blood samples and subjected to multiplex polymerase chain reaction (PCR). The truncation of del5395 was estimated by fragment size of the multiplex PCR.All groups were compared to the healthy blood donors using Fisher's exact test. All p values were two-sided and the odds ratios (OR) calculated by two-by-two table. In cancer groups, the del5395 mutation was most frequently observed in the ovarian cancer group (1.00%, OR = 1.32). In control groups, the del5395 mutation was most frequent (0.76%) in the healthy donors, which exceeded its frequency in the Chernobyl liquidators group and the geriatric group by 0.01 and 0.08%, respectively. For all groups, the OR appeared to be >1 only in ovarian cancer patients. However, OR rates showed no statistical significance in either cancer or control groups, with the p value fluctuating within the range of 0.39-1.00. The CHEK2 gene del5395 is a founder mutation in the Latvian population, which, however, does not have a direct impact on genetic predisposition toward colorectal, breast, ovarian and prostate cancer.

  13. Weyl fermions in a family of Gödel-type geometries with a topological defect

    NASA Astrophysics Data System (ADS)

    Garcia, G. Q.; Oliveira, J. R. De S.; Furtado, C.

    In this paper, we study Weyl fermions in a family of Gödel-type geometries in Einstein general relativity. We also consider that these solutions are embedded in a topological defect background. We solve the Weyl equation and find the energy eigenvalues and eigenspinors for all three cases of Gödel-type geometries where a topological defect is passing through them. We show that the presence of a topological defect in these geometries contributes to the modification of the spectrum of energy. The energy zero modes for all three cases of the Gödel geometries are discussed.

  14. Observaciones del CH interestelar y el continuo en 3,3 GHz

    NASA Astrophysics Data System (ADS)

    Olano, C. A.; Combi, J. A.; Pöppel, W.; Benaglia, P.; Sanz, A. J.; Bava, J. A.

    Se informa sobre el proyecto que se lleva a cabo en el IAR con el propósito de observar las líneas hiperfinas del estado fundamental del CH y el continuo en la banda de 3,3 GHz. El nuevo receptor construído en nuestro laboratorio para tal fin se instaló sobre uno de los radiotelescopios, funcionando conjuntamente con los sistemas de procesamiento actuales del IAR. Los resultados de las primeras observaciones, realizadas tanto en las líneas espectrales como en el continuo sobre fuentes conocidas, fueron satisfactorios.

  15. Study of Aerospace Materials, Coatings, Adhesions and Processes. Aircraft Icing Processes. Volume 2.

    DTIC Science & Technology

    1984-09-14

    la direccio’n del eje de la son - da. DATOS ELECTRICOS Rint’erna 20.26 . R(OC) =5.35 Q R(22 0 C).. 5.93 Q R(100 0 C) 7.43 . Roperacio’n... son las constantes de calibraci6n propias del sensor. 1INT A FN. de Informe I-231/S10/84.076Pg. . La temperatura de funcionamiento se deterrnin6 por l...funcionamiento del sensor, T la temperatura ambiente, la densidad y v la velocidad. A, B y n son las constantes de cal- z braci6n propias del

  16. Contribución al flujo infrarrojo de las estrellas Be de la recombinación dielectrónica del MgII

    NASA Astrophysics Data System (ADS)

    Cruzado, A.; di Rocco, H.; Ringuelet, A.

    Para evaluar la contribución del proceso de recombinación dielectrónica del átomo de MgII al exceso de flujo infrarrojo observado en las estrellas Be, calculamos la energía emitida en las líneas originadas por este proceso. Se evaluaron los efectos de las condiciones físicas del medio, como la temperatura electrónica y la densidad electrónica, sobre el flujo emitido. Se consideró también la influencia de una posible opacidad.

  17. Clinical outcomes of EGFR-TKI treatment and genetic heterogeneity in lung adenocarcinoma patients with EGFR mutations on exons 19 and 21.

    PubMed

    Yu, Jiang-Yong; Yu, Si-Fan; Wang, Shu-Hang; Bai, Hua; Zhao, Jun; An, Tong-Tong; Duan, Jian-Chun; Wang, Jie

    2016-03-21

    Epidermal growth factor receptor (EGFR) mutations, including a known exon 19 deletion (19 del) and exon 21 L858R point mutation (L858R mutation), are strong predictors of the response to EGFR tyrosine kinase inhibitor (EGFR-TKI) treatment in lung adenocarcinoma. However, whether patients carrying EGFR 19 del and L858R mutations exhibit different responsiveness to EGFR-TKIs and what are the potential mechanism for this difference remain controversial. This study aimed to investigate the clinical outcomes of EGFR-TKI treatment in patients with EGFR 19 del and L858R mutations and explore the genetic heterogeneity of tumors with the two mutation subtypes. Of 1127 patients with advanced lung adenocarcinoma harboring EGFR 19 del or L858R mutations, 532 received EGFR-TKI treatment and were included in this study. EGFR 19 del and L858R mutations were detected by using denaturing high-performance liquid chromatography (DHPLC). T790M mutation, which is a common resistant mutation on exon 20 of EGFR, was detected by amplification refractory mutation system (ARMS). Next-generation sequencing (NGS) was used to explore the genetic heterogeneity of tumors with EGFR 19 del and L858R mutations. Of the 532 patients, 319 (60.0%) had EGFR 19 del, and 213 (40.0%) had L858R mutations. The patients with EGFR 19 del presented a significantly higher overall response rate (ORR) for EGFR-TKI treatment (55.2% vs. 43.7%, P = 0.017) and had a longer progression-free survival (PFS) after first-line EGFR-TKI treatment (14.4 vs. 11.4 months, P = 0.034) compared with those with L858R mutations. However, no statistically significant difference in overall survival (OS) was observed between the two groups of patients. T790M mutation status was analyzed in 88 patients before EGFR-TKI treatment and 134 after EGFR-TKI treatment, and there was no significant difference in the co-existence of T790M mutation with EGFR 19 del and L858R mutations before EGFR-TKI treatment (5.6% vs. 8.8%, P = 0.554) or after treatment (24.4% vs. 35.4%, P = 0.176). In addition, 24 patients with EGFR 19 del and 19 with L858R mutations were analyzed by NGS, and no significant difference in the presence of multiple somatic mutations was observed between the two genotypes. Patients with EGFR 19 del exhibit longer PFS and higher ORR compared with those with L858R mutations. Whether the heterogeneity of tumors with EGFR 19 del and L858R mutations contribute to a therapeutic response difference needs further investigation.

  18. Reference Aid Abbreviations in the Latin American Press

    DTIC Science & Technology

    1977-08-30

    FTC Frente de Trabajadores de la Cultura Frente de Trabajadores Copeyanos FTCCP Federacion de Trabajadores en Construccion Civil del Peru...Naciones Unidas ACOLSURE Asociacion Colombiana de Suboficiales de las Fuerzas Militares en Retiro ACOMINAS Aco Minas Gerais S.A. ACOPECAFE...28 CAMACOL Camara Colombiana de la Construccion CAMAS Coordinador del Area Maritima del Atlantico Sur CAME Colombian Chamber of

  19. Discourse of His Excellency the President of the Republic of Chile, Don Eduardo Frei Ruiz-Tagle

    NASA Astrophysics Data System (ADS)

    1999-06-01

    Es una gran satisfacción para mí inaugurar lo que será, dentro de breve tiempo, el telescopio más poderoso del mundo, que viene a responder tan claramente a la necesidad esencial del ser humano de explorar y conocer los orígenes y misterios del universo.

  20. 62. R.L.T., photographer November 1, 1934 DEL NORTE COUNTY, SECTION ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    62. R.L.T., photographer November 1, 1934 DEL NORTE COUNTY, SECTION D, HIGHWAY 1. REDWOOD CLEARING ON EXISTING LINE, 1-DN-71-A #26, R.L.T. 11-1-34. Stamped office copy. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA

  1. 60. C.J.T., photographer December 23, 1955 KLAMATH RIVER BRIDGE, DEL ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    60. C.J.T., photographer December 23, 1955 KLAMATH RIVER BRIDGE, DEL NORTE COUNTY, SECTION A, HIGHWAY 1. DN-1-A #538, KLAMATH RIVER BR. FROM SO. END, 12/23/55, C.J.T. - Redwood National & State Parks Roads, California coast from Crescent City to Trinidad, Crescent City, Del Norte County, CA

  2. 77 FR 2606 - Unblocking of Specially Designated Nationals and Blocked Persons Pursuant to Executive Order 12978

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-01-18

    .... RENTERIA CAICEDO, Beatriz Eugenia, c/o INVERSIONES AGROINDUSTRIALES DEL OCCIDENTE LTDA., Bogota, Colombia... ILOVIN S.A., Bogota, Colombia; c/o INVERSIONES DEL PRADO ABDALA SAIEH Y CIA. S.C.A., Barranquilla...., Bogota, Colombia; c/o INVERSIONES DEL PRADO ABDALA SAIEH Y CIA. S.C.A., Barranquilla, Colombia; c/o KAREN...

  3. IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951.

    PubMed

    Clappier, E; Grardel, N; Bakkus, M; Rapion, J; De Moerloose, B; Kastner, P; Caye, A; Vivent, J; Costa, V; Ferster, A; Lutz, P; Mazingue, F; Millot, F; Plantaz, D; Plat, G; Plouvier, E; Poirée, M; Sirvent, N; Uyttebroeck, A; Yakouben, K; Girard, S; Dastugue, N; Suciu, S; Benoit, Y; Bertrand, Y; Cavé, H

    2015-11-01

    The added value of IKZF1 gene deletion (IKZF1(del)) as a stratifying criterion in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is still debated. We performed a comprehensive analysis of the impact of IKZF1(del) in a large cohort of children (n=1223) with BCR-ABL1-negative BCP-ALL treated in the EORTC-CLG trial 58951. Patients with IKZF1(del) had a lower 8-year event-free survival (EFS, 67.7% versus 86.5%; hazard ratio (HR)=2.41; 95% confidence interval (CI)=1.75-3.32; P<0.001). Importantly, despite association with high-risk features such as high minimal residual disease, IKZF1(del) remained significantly predictive in multivariate analyses. Analysis by genetic subtype showed that IKZF1(del) increased risk only in the high hyperdiploid ALLs (HR=2.57; 95% CI=1.19-5.55; P=0.013) and in 'B-other' ALLs, that is, lacking classifying genetic lesions (HR=2.22; 95% CI=1.45-3.39; P<0.001), the latter having then a dramatically low 8-year EFS (56.4; 95% CI=44.6-66.7). Among IKZF1(del)-positive patients randomized for vincristine-steroid pulses during maintenance, those receiving pulses had a significantly higher 8-year EFS (93.3; 95% CI=61.3-99.0 versus 42.1; 95% CI=20.4-62.5). Thus, IKZF1(del) retains independent prognostic significance in the context of current risk-adapted protocols, and is associated with a dismal outcome in 'B-other' ALL. Addition of vincristine-steroid pulses during maintenance may specifically benefit to IKZF1(del) patients in preventing relapses.

  4. Delphinidin, a dietary antioxidant, induces human epidermal keratinocyte differentiation but not apoptosis: studies in submerged and three-dimensional epidermal equivalent models.

    PubMed

    Chamcheu, Jean Christopher; Afaq, Farrukh; Syed, Deeba N; Siddiqui, Imtiaz A; Adhami, Vaqar M; Khan, Naghma; Singh, Sohinderjit; Boylan, Brendan T; Wood, Gary S; Mukhtar, Hasan

    2013-05-01

    Delphinidin (Del), [3,5,7,3'-,4'-,5'-hexahydroxyflavylium], an anthocyanidin and a potent antioxidant abundantly found in pigmented fruits and vegetables exhibits proapoptotic effects in many cancer cells. Here, we determined the effect of Del on growth, apoptosis and differentiation of normal human epidermal keratinocytes (NHEKs) in vitro in submerged cultures and examined its effects in a three-dimensional (3D) epidermal equivalent (EE) model that permits complete differentiation reminiscent of in vivo skin. Treatment of NHEKs with Del (10-40 μm; 24-48 h) significantly enhanced keratinocyte differentiation. In Del-treated cells, there was marked increase in human involucrin (hINV) promoter activity with simultaneous increase in the mRNA and protein expressions of involucrin and other epidermal differentiation markers including procaspase-14 and transglutaminase-1 (TGM1), but without any effect on TGM2. Del treatment of NHEKs was associated with minimal decrease in cell viability, which was not associated with apoptosis as evident by lack of modulation of caspases, apoptosis-related proteins including Bcl-2 family of proteins and poly(ADP-ribose) polymerase cleavage. To establish the in vivo relevance of our observations in submerged cultures, we then validated these effects in a 3D EE model, where Del was found to significantly enhance cornification and increase the protein expression of cornification markers including caspase-14 and keratin 1. For the first time, we show that Del induces epidermal differentiation using an experimental system that closely mimics in vivo human skin. These observations suggest that Del could be a useful agent for dermatoses associated with epidermal barrier defects including aberrant keratinization, hyperproliferation or inflammation observed in skin diseases like psoriasis and ichthyoses. © 2013 John Wiley & Sons A/S.

  5. Development and validation of an automated delirium risk assessment system (Auto-DelRAS) implemented in the electronic health record system.

    PubMed

    Moon, Kyoung-Ja; Jin, Yinji; Jin, Taixian; Lee, Sun-Mi

    2018-01-01

    A key component of the delirium management is prevention and early detection. To develop an automated delirium risk assessment system (Auto-DelRAS) that automatically alerts health care providers of an intensive care unit (ICU) patient's delirium risk based only on data collected in an electronic health record (EHR) system, and to evaluate the clinical validity of this system. Cohort and system development designs were used. Medical and surgical ICUs in two university hospitals in Seoul, Korea. A total of 3284 patients for the development of Auto-DelRAS, 325 for external validation, 694 for validation after clinical applications. The 4211 data items were extracted from the EHR system and delirium was measured using CAM-ICU (Confusion Assessment Method for Intensive Care Unit). The potential predictors were selected and a logistic regression model was established to create a delirium risk scoring algorithm to construct the Auto-DelRAS. The Auto-DelRAS was evaluated at three months and one year after its application to clinical practice to establish the predictive validity of the system. Eleven predictors were finally included in the logistic regression model. The results of the Auto-DelRAS risk assessment were shown as high/moderate/low risk on a Kardex screen. The predictive validity, analyzed after the clinical application of Auto-DelRAS after one year, showed a sensitivity of 0.88, specificity of 0.72, positive predictive value of 0.53, negative predictive value of 0.94, and a Youden index of 0.59. A relatively high level of predictive validity was maintained with the Auto-DelRAS system, even one year after it was applied to clinical practice. Copyright © 2017. Published by Elsevier Ltd.

  6. Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation.

    PubMed

    De Stefano, Daniela; Villella, Valeria R; Esposito, Speranza; Tosco, Antonella; Sepe, Angela; De Gregorio, Fabiola; Salvadori, Laura; Grassia, Rosa; Leone, Carlo A; De Rosa, Giuseppe; Maiuri, Maria C; Pettoello-Mantovani, Massimo; Guido, Stefano; Bossi, Anna; Zolin, Anna; Venerando, Andrea; Pinna, Lorenzo A; Mehta, Anil; Bona, Gianni; Kroemer, Guido; Maiuri, Luigi; Raia, Valeria

    2014-01-01

    Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung inflammation in Cftr(F508del) homozygous mice. Cysteamine, the reduced form of cystamine, is an FDA-approved drug. Here, we report that oral treatment with cysteamine greatly reduces the mortality rate and improves the phenotype of newborn mice bearing the F508del-CFTR mutation. Cysteamine was also able to increase the plasma membrane expression of the F508del-CFTR protein in nasal epithelial cells from F508del homozygous CF patients, and these effects persisted for 24 h after cysteamine withdrawal. Importantly, this cysteamine effect after washout was further sustained by the sequential administration of epigallocatechin gallate (EGCG), a green tea flavonoid, both in vivo, in mice, and in vitro, in primary epithelial cells from CF patients. In a pilot clinical trial involving 10 F508del-CFTR homozygous CF patients, the combination of cysteamine and EGCG restored BECN1, reduced SQSTM1 levels and improved CFTR function from nasal epithelial cells in vivo, correlating with a decrease of chloride concentrations in sweat, as well as with a reduction of the abundance of TNF/TNF-alpha (tumor necrosis factor) and CXCL8 (chemokine [C-X-C motif] ligand 8) transcripts in nasal brushing and TNF and CXCL8 protein levels in the sputum. Altogether, these results suggest that optimal schedules of cysteamine plus EGCG might be used for the treatment of CF caused by the F508del-CFTR mutation.

  7. Four SNPs and Systemic Level of FOXP3 in Smokers and Patients with Chronic Obstructive Pulmonary Disease.

    PubMed

    Chu, Shuyuan; Zhong, Xiaoning; Zhang, Jianquan; Lai, Xiaoying; Xie, Jiajun; Li, Yu

    2016-12-01

    Forkhead box P3 (FOXP3) is the essential transcription factor for the function of regulatory T-cell (Treg). However, the gene mutation of FOXP3 in patients with chronic obstructive pulmonary disease (COPD) at different stages has not been reported. We aim to investigate four single nucleotide polymorphisms (SNPs) and the mRNA expression of FOXP3 in smokers with normal lung function and smokers with COPD at different stages. FOXP3 mRNA expression and SNPs in FOXP3 were assessed in nonsmokers with normal lung function (N), smokers with normal lung function (S), smokers with COPD in the Global Initiative for Chronic Obstructive Lung Disease (GOLD) 1 or 2 grade (COPD 1-2), and smokers with COPD in GOLD 3 or 4 grade (COPD 3-4). In peripheral blood sample, FOXP3 mRNA was assessed using real-time quantitative PCR and SNPs were analyzed by TaqMan PCR. FOXP3 mRNA level in peripheral blood sample was decreased when COPD was aggravated. The frequency of FOXP3 rs5902434 genotype del/del and allele del are lower in COPD 1-2 and COPD 3-4 than that in N or S. The rs5902434 genotype del/del and allele del were, respectively, associated with decreased risk of COPD and lung function decline. The rs5902434 genotypic distribution was correlated with FOXP3 mRNA level. In conclusion, both FOXP3 rs5902434 genotypes and alleles were differently distributed in COPD patients and smokers with normal lung function. The distribution of del/del genotype was associated with systemic expression of FOXP3 mRNA. More research is needed to explore the role of FOXP3 gene polymorphism in immunoinflammation of COPD.

  8. Rescue of murine F508del CFTR activity in native intestine by low temperature and proteasome inhibitors.

    PubMed

    Wilke, Martina; Bot, Alice; Jorna, Huub; Scholte, Bob J; de Jonge, Hugo R

    2012-01-01

    Most patients with Cystic Fibrosis (CF) carry at least one allele with the F508del mutation, resulting in a CFTR chloride channel protein with a processing, gating and stability defect, but with substantial residual activity when correctly sorted to the apical membranes of epithelial cells. New therapies are therefore aimed at improving the folding and trafficking of F508del CFTR, (CFTR correctors) or at enhancing the open probability of the CFTR chloride channel (CFTR potentiators). Preventing premature breakdown of F508del CFTR is an alternative or additional strategy, which is investigated in this study. We established an ex vivo assay for murine F508del CFTR rescue in native intestinal epithelium that can be used as a pre-clinical test for candidate therapeutics. Overnight incubation of muscle stripped ileum in modified William's E medium at low temperature (26°C), and 4 h or 6 h incubation at 37°C with different proteasome inhibitors (PI: ALLN, MG-132, epoxomicin, PS341/bortezomib) resulted in fifty to hundred percent respectively of the wild type CFTR mediated chloride secretion (forskolin induced short-circuit current). The functional rescue was accompanied by enhanced expression of the murine F508del CFTR protein at the apical surface of intestinal crypts and a gain in the amount of complex-glycosylated CFTR (band C) up to 20% of WT levels. Sustained rescue in the presence of brefeldin A shows the involvement of a post-Golgi compartment in murine F508del CFTR degradation, as was shown earlier for its human counterpart. Our data show that proteasome inhibitors are promising candidate compounds for improving rescue of human F508del CFTR function, in combination with available correctors and potentiators.

  9. Características del viento en estrellas Be derivadas del perfil Hα

    NASA Astrophysics Data System (ADS)

    Rohrmann, R.; Cidale, L.

    El estudio teórico de perfiles Hα y su variabilidad en estrellas Be ha sido frecuentemente desarrollado en base a modelos de envolturas circunestelares inhomogéneas, donde la geometría del material es responsable de la forma del perfil dependiendo de la dirección de observación. Nosotros damos una interpretación alternativa y proponemos que la mayoría de las propiedades de esta línea tienen origen en la base de un viento estelar y de una estructura cromosférica anexa a la fotósfera. Encontramos que típicos perfiles Hα en Be, como son los llamados pole-on y winebottle, pueden ser reproducidos cualitativamente sin recurrir a la existencia de una envoltura asimétrica. Analizamos como la línea Hα permite identificar la posible estructura del viento en la región donde éste se inicia.

  10. Espectro de radiación derivado de un modelo de colapso protoestelar

    NASA Astrophysics Data System (ADS)

    Coca, S.; Rohrmann, R.

    El exceso de emisión infrarroja en objetos protoestelares es atribuido usualmente a un disco de material en torno al cuerpo central. A pesar del avance alcanzado en la elaboración de modelos, aún existen dificultades para explicar la ley de temperatura del disco necesaria para reproducir las luminosidades y perfiles de energía observados. Nuestra propuesta consiste en determinar la distribución espectral de la radiación derivada de un particular modelo de colapso protoestelar, y estudiar la evolución del espectro desde estadíos tempranos de la contracción gravitatoria. Este plan es orientado a evaluar las propiedades del modelo (distribuciones de masa y temperatura del material circunestelar) por comparación con datos observacionales, a fin de inferir de ello los posibles ajustes requeridos en la teoría actualmente empleada.

  11. DelPhi web server v2: incorporating atomic-style geometrical figures into the computational protocol.

    PubMed

    Smith, Nicholas; Witham, Shawn; Sarkar, Subhra; Zhang, Jie; Li, Lin; Li, Chuan; Alexov, Emil

    2012-06-15

    A new edition of the DelPhi web server, DelPhi web server v2, is released to include atomic presentation of geometrical figures. These geometrical objects can be used to model nano-size objects together with real biological macromolecules. The position and size of the object can be manipulated by the user in real time until desired results are achieved. The server fixes structural defects, adds hydrogen atoms and calculates electrostatic energies and the corresponding electrostatic potential and ionic distributions. The web server follows a client-server architecture built on PHP and HTML and utilizes DelPhi software. The computation is carried out on supercomputer cluster and results are given back to the user via http protocol, including the ability to visualize the structure and corresponding electrostatic potential via Jmol implementation. The DelPhi web server is available from http://compbio.clemson.edu/delphi_webserver.

  12. Breast Cancer Epidemiology in Puerto Rico

    DTIC Science & Technology

    2013-06-30

    Universidad de Puerto Rico Recinto de Ciencias Medicas Escuela Graduada de Salud Publica Apartado postal 365067, San Juan, Puerto Rico 00936-5067... Ciencias Medicas. Este proyecto recibe fondos del Programa de Investigacion de Cancer de Mama, bajo el mecanismo de Donativo para Adiestramiento en...minimo. Una enfermera adiestrada del Consorcio de Investigacion Clinica y Traslacional del Recinto de Ciencias Medicas (PRCTRC) tomara estas muestras

  13. General nonextremal rotating charged Gödel black holes in minimal five-dimensional gauged supergravity.

    PubMed

    Wu, Shuang-Qing

    2008-03-28

    I present the general exact solutions for nonextremal rotating charged black holes in the Gödel universe of five-dimensional minimal supergravity theory. They are uniquely characterized by four nontrivial parameters: namely, the mass m, the charge q, the Kerr equal rotation parameter a, and the Gödel parameter j. I calculate the conserved energy, angular momenta, and charge for the solutions and show that they completely satisfy the first law of black hole thermodynamics. I also study the symmetry and separability of the Hamilton-Jacobi and the massive Klein-Gordon equations in these Einstein-Maxwell-Chern-Simons-Gödel black hole backgrounds.

  14. Chemical Biology Probes from Advanced DNA-encoded Libraries.

    PubMed

    Salamon, Hazem; Klika Škopić, Mateja; Jung, Kathrin; Bugain, Olivia; Brunschweiger, Andreas

    2016-02-19

    The identification of bioactive compounds is a crucial step toward development of probes for chemical biology studies. Screening of DNA-encoded small molecule libraries (DELs) has emerged as a validated technology to interrogate vast chemical space. DELs consist of chimeric molecules composed of a low-molecular weight compound that is conjugated to a DNA identifier tag. They are screened as pooled libraries using selection to identify "hits." Screening of DELs has identified numerous bioactive compounds. Some of these molecules were instrumental in gaining a deeper understanding of biological systems. One of the main challenges in the field is the development of synthesis methodology for DELs.

  15. Mejoras en la exactitud del reloj de ángulo horario del telescopio de 2,15 mts de CASLEO

    NASA Astrophysics Data System (ADS)

    Aballay, J. L.; Pereyra, P. F.; Marún, A. H.

    Para aumentar la exactitud en el control del ángulo horario del telescopio, se está implementando el uso de un reloj con una precisión de 1/100 seg. En conjunto con el encoder que otorga la posición con un acierto de 0,012 seg. de arco, se podrá implementar otro dígito en el reloj de ángulo horario con la posibilidad de ver las décimas. Esto, sumado a la precisión ya lograda en declinación, permitirá realizar offsets con mayor exactitud.

  16. Gödel universes in string theory

    NASA Astrophysics Data System (ADS)

    Barrow, John D.; Dabrowski, Mariusz P.

    1998-11-01

    We show that homogeneous Gödel spacetimes need not contain closed timelike curves in low-energy-effective string theories. We find exact solutions for the Gödel metric in string theory for the full O(α') action including both dilaton and axion fields. The results are valid for bosonic, heterotic and super-strings. To first order in the inverse string tension α', these solutions display a simple relation between the angular velocity of the Gödel universe, Ω, and the inverse string tension of the form α'=1/Ω2 in the absence of the axion field. The generalization of this relationship is also found when the axion field is present.

  17. Combined effects of VX-770 and VX-809 on several functional abnormalities of F508del-CFTR channels.

    PubMed

    Kopeikin, Z; Yuksek, Z; Yang, H-Y; Bompadre, S G

    2014-09-01

    The most common cystic fibrosis-associated mutation, the deletion of phenylalanine 508 (F508del), results in channels with poor membrane expression and impaired function. VX-770, a clinically approved drug for treatment of CF patients carrying the G551D mutation, and VX-809, a corrector shown in vitro to increase membrane expression of mutant channels, are currently undergoing clinical trials, but functional data at the molecular level is still lacking. The effect of VX-770 and VX-809 on the multiple functional defects of F508del-CFTR was assessed via excised inside-out patch-clamp experiments. VX-770 completely restores the low opening-rate of F508del-CFTR, with smaller open-time increase, in temperature-corrected and VX-809-treated channels. The shorter locked-open time of hydrolysis-deficient F508del-CFTR is also prolonged by VX-770. VX-809 does not improve channel function by itself as previously reported. The results from these studies can be interpreted as an equilibrium shift toward the open-channel conformation of F508del-CFTR channels. Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

  18. [Bibliometric analysis of Revista Médica del IMSS in the Scopus database for the period between 2005-2013].

    PubMed

    García-Gómez, Francisco; Ramírez-Méndez, Fernando

    2015-01-01

    To analyze the number of articles of Revista Médica del Instituto Mexicano del Seguro Social (Rev Med Inst Mex Seguro Soc) in the Scopus database and describe principal quantitative bibliometric indicators of scientific publications during the period between 2005 to 2013. Scopus database was used limited to the period between 2005 to 2013. The analysis cover mainly title of articles with the title of Revista Médica del Instituto Mexicano del Seguro Social and its possible modifications. For the analysis, Scopus, Excel and Access were used. 864 articles were published during the period between 2005 to 2013 in the Scopus database. We identified authors with the highest number of contributions including articles with the highest citation rate and forms of documents cited. We also divided articles by subjects, types of documents and other bibliometric indicators which characterize the publications. The use of Scopus brings the possibility of analyze with an external tool the visibility of the scientific production published in the Revista Médica del IMSS. The use of this database also contributes to identify the state of science in México, as well as in the developing countries.

  19. Apoyo a Estudios Geodinamicos con GPS en Guatemala

    NASA Astrophysics Data System (ADS)

    Robles, V. R.

    2013-05-01

    El Instituto Geografico Nacional de Guatemala implemento 17 estaciones GNSS en el año 2009, como un proyecto de credito mixto de donacion de equipamiento del Gobierno de Suiza, el cual, este equipamiento de estaciones CORS GNSS es un sistema de recepción y transmisión de datos crudos GPS RInex que utiliza la tecnologia Spider Web de Leica, asi mismo este sistema esta sirviendo para el espablecimiento de un marco geodesico nacional de coordenadas geodesicas oficiales, el cual se calculan u obtienen las velocidades en tiempos temporales programados de las 17 Estaciones CORS. La infraestructura del marco geodesico de Guatemala esta sirviendo de base para las aplicaciones de estudios geodinamicos como el monitoreo de del desplazamiento de las placas tectonicas por medio de un estudio que se inicio en el año de 1999, llamado medicion con GPS el sistema de Fallas de los rios Polochic Motagua de Guatemala, tambien para un estudio que se implemento para deformación de corteza terrestre local en un Volcan Activo de Guatemala llamado Pacaya. Para el estudio de medicion con GPS en el sistema de falla de los Rios del polochic Motagua se implementaron 16 puntos para medir con GPS de dos frecuencias en el año de 1999, el cual, tres puntos son estaciones geodesicas CORS IGS llamados GUAT, ELEN y HUEH, despues en el año de 2003 se hizo otra medicion en un total de 20 puntos, que permitió calcular las velocidades de desplazamieinto de los puntos en mención, usando como referencia el modelo NUVEL 1A de DeMets de la placa de Norteamerica. Este estudio fue en cooperación internacional por la universidad de Nice de Francia y el IGNde Francia. Para el estudio del monitoreo con GPS del volcan activo de Guatemala, se implementaron cuatro puntos al rededor del volcan, el cual, se realizan cuatro mediciones al año, que permiten determinar axialmente la distancias entre los puntos, y rebisar estadisticamente cual es el comportamiento de las distancias en funcion del tiempo, si existen diferencias graduales crecientes o decrecientes, que nos da un indicativo del desplazamiento de la corteza terrestre al rededor del volcan.

  20. Implementación de un modelo de capacitación multimedial para brindar orientación alimentaria a los beneficiarios de un programa de ayuda social en México.

    PubMed

    Amaya-Castellanos, Maritza Alejandra; Morales-Ruan, María Del Carmen; Uribe-Carvajal, Rebeca; Jiménez-Aguilar, Alejandra; Salazar-Coronel, Araceli Apolonia; Martínez-Tapia, Brenda; Shamah-Levy, Teresa

    2018-03-01

    Introducción: Se implementó un modelo de capacitación en orientación alimentaria para la población beneficiaria y el personal operativo del Programa de Abasto Rural (PAR) de Diconsa, el cual es una iniciativa social de ayuda alimentaria que abastece productos básicos y complementarios, además de brindar capacitación en localidades de alta marginación en México. Objetivo: Documentar la utilización de la Metodología de Capacitación Multimedial (MCM) en el desarrollo de un esquema de capacitación sobre orientación alimentaria y su implementación en la población beneficiaria del PAR, a través de la propia estructura operativa del PAR. Metodología: El modelo se fundamenta en la MCM, integrada por cuatro elementos didácticos e indivisibles que conforman el paquete pedagógico multimedial (PPM), compuesto a su vez por tres videos y rotafolios, material impreso, prácticas y las relaciones interpersonales. Los ejes temáticos fueron: alimentación correcta para una vida saludable, alimentación materno-infantil, elecciones saludables y gasto familiar. El modelo fue replicado en cascada en los tres niveles operativos del PAR (responsables de capacitación, supervisores operativos y beneficiarios del PAR), con un componente de multiplicación horizontal, e implementado como piloto en cuatro estados de México. Resultados: Se observó un cambio positivo sobre los conocimientos en alimentación correcta en todos los niveles de capacitación, principalmente en los beneficiarios del PAR. La evaluación del proceso mostró conocimientos previos de los responsables de capacitación en los temas, buen desempeño como facilitadores, y habilidades de presentación y manejo del grupo de los supervisores operativos. A partir de las evaluaciones y del acompañamiento en la prueba piloto, fueron modificados las actividades, las estrategias y los materiales educativos del PPM. Conclusiones: La capacitación multimedial y la educación nutricional promueven procesos de cambio y desarrollo comunitario, posibles a través de la toma de conciencia y la puesta en práctica de acciones que favorecen la salud.

  1. Species identification in forensic samples using the SPInDel approach: A GHEP-ISFG inter-laboratory collaborative exercise.

    PubMed

    Alves, Cíntia; Pereira, Rui; Prieto, Lourdes; Aler, Mercedes; Amaral, Cesar R L; Arévalo, Cristina; Berardi, Gabriela; Di Rocco, Florencia; Caputo, Mariela; Carmona, Cristian Hernandez; Catelli, Laura; Costa, Heloísa Afonso; Coufalova, Pavla; Furfuro, Sandra; García, Óscar; Gaviria, Anibal; Goios, Ana; Gómez, Juan José Builes; Hernández, Alexis; Hernández, Eva Del Carmen Betancor; Miranda, Luís; Parra, David; Pedrosa, Susana; Porto, Maria João Anjos; Rebelo, Maria de Lurdes; Spirito, Matteo; Torres, María Del Carmen Villalobos; Amorim, António; Pereira, Filipe

    2017-05-01

    DNA is a powerful tool available for forensic investigations requiring identification of species. However, it is necessary to develop and validate methods able to produce results in degraded and or low quality DNA samples with the high standards obligatory in forensic research. Here, we describe a voluntary collaborative exercise to test the recently developed Species Identification by Insertions/Deletions (SPInDel) method. The SPInDel kit allows the identification of species by the generation of numeric profiles combining the lengths of six mitochondrial ribosomal RNA (rRNA) gene regions amplified in a single reaction followed by capillary electrophoresis. The exercise was organized during 2014 by a Working Commission of the Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG), created in 2013. The 24 participating laboratories from 10 countries were asked to identify the species in 11 DNA samples from previous GHEP-ISFG proficiency tests using a SPInDel primer mix and control samples of the 10 target species. A computer software was also provided to the participants to assist the analyses of the results. All samples were correctly identified by 22 of the 24 laboratories, including samples with low amounts of DNA (hair shafts) and mixtures of saliva and blood. Correct species identifications were obtained in 238 of the 241 (98.8%) reported SPInDel profiles. Two laboratories were responsible for the three cases of misclassifications. The SPInDel was efficient in the identification of species in mixtures considering that only a single laboratory failed to detect a mixture in one sample. This result suggests that SPInDel is a valid method for mixture analyses without the need for DNA sequencing, with the advantage of identifying more than one species in a single reaction. The low frequency of wrong (5.0%) and missing (2.1%) alleles did not interfere with the correct species identification, which demonstrated the advantage of using a method based on the analysis of multiple loci. Overall, the SPInDel method was easily implemented by laboratories using different genotyping platforms, the interpretation of results was straightforward and the SPInDel software was used without any problems. The results of this collaborative exercise indicate that the SPInDel method can be applied successfully in forensic casework investigations. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

    PubMed Central

    Van Goor, Fredrick; Hadida, Sabine; Grootenhuis, Peter D. J.; Burton, Bill; Stack, Jeffrey H.; Straley, Kimberly S.; Decker, Caroline J.; Miller, Mark; McCartney, Jason; Olson, Eric R.; Wine, Jeffrey J.; Frizzell, Ray A.; Ashlock, Melissa; Negulescu, Paul A.

    2011-01-01

    Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that impair the function of CFTR, an epithelial chloride channel required for proper function of the lung, pancreas, and other organs. Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface. One strategy to treat these patients is to correct the processing of F508del-CFTR with small molecules. Here we describe the in vitro pharmacology of VX-809, a CFTR corrector that was advanced into clinical development for the treatment of CF. In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the endoplasmic reticulum and enhanced chloride secretion to approximately 14% of non-CF human bronchial epithelial cells (EC50, 81 ± 19 nM), a level associated with mild CF in patients with less disruptive CFTR mutations. F508del-CFTR corrected by VX-809 exhibited biochemical and functional characteristics similar to normal CFTR, including biochemical susceptibility to proteolysis, residence time in the plasma membrane, and single-channel open probability. VX-809 was more efficacious and selective for CFTR than previously reported CFTR correctors. VX-809 represents a class of CFTR corrector that specifically addresses the underlying processing defect in F508del-CFTR. PMID:21976485

  3. Calidad de Imagen del Telescopio UNAM212

    NASA Astrophysics Data System (ADS)

    Cobos, F. J.; Teiada de Vargas, C.

    1987-05-01

    El telescopio UNAM2l2, del Observatorio Astronómico Nacional, situado en la Sierra de San Pedro Mártir (Baja California, México), cumplira en un futuro muy cercano siete años de uso para fines de investigación astronómica. Aunque en este tiempo no se ha efectuado un estudio sistemático acerca de su comportamiento óptico y de los factores que influyen en la calidad de las imágenes, se han realizado pruebas diversas, estudios parciales y reuniones especificas, cuyos resultados no siempre se han difundido ampliamente y generalmente no se han presentado por escrito. Es por ello que hemos creido necesario intentar una recopilación de la información existente para poder con ella establecer un diagnóstjco que, aunque no sea definitivo, sirva de base para futuros trabajos tendientes a optimizar el comportamiento óptico del telescopio. Es evidente que un buen número de las conclusiones que se presentan son resultado del trabajo de muchas personas ó de esfuerzos colectivos. Asimismo, hemos tratado de localizar información bibliográfica que pueda ser de utilidad. Nuestro objetivo primordial ha consistido en centrarnos en la óptica del telescopio y su calidad, pero también se han considerado otros aspectos que puedan afectar las imágenes obtenidas tales como: celda del primario, `seeing' local y externo, flexiones posibles en la estructura mecánica del telescopio, etc.

  4. Uso Del Condón en Adolescentes Nahuas, un Modelo Explicativo.

    PubMed

    Tirado, María de Los Ángeles Meneses; Benavides-Torres, Raquel A; Navarro, Sergio Meneses; de la Colina, Juan Antonio Doncel; Rodríguez, Dora Julia Onofre; Hernández, Francisco Javier Baéz

    2018-03-01

    En México, la población indígena supera los siete millones de habitantes, en Puebla el grupo más representativo es el Náhuatl. Sin embargo, las condiciones de vida, salud, educación y transporte son precarias para esta población. En los adolescentes, las responsabilidades como el matrimonio, la familia y los compromisos ante la comunidad, favorecen conductas de riesgo sexual que dificultan su desarrollo económico, social y reproductivo. El objetivo fue proponer un modelo explicativo del uso del condón en adolescentes nahuas. Método. Bajo el marco de la teoría social cognitiva, el concepto de valores culturales de Leininger y el proceso de la sustracción teórica, se desarrolló este artículo. Se muestran las relaciones del modelo con las proposiciones y los factores que influyen en el uso del condón para este grupo específico. Finalmente, el modelo explica las variables de interés, los niveles de abstracción y las relaciones entre sí en el contexto náhuatl. El siguiente paso será implementar los indicadores empíricos para conocer el grado de influencia de los factores personales y ambientales hacia el uso del condón en adolescentes nahuas. Resultados que aportarán información para el desarrollo del conocimiento en enfermería y la reducción de riesgo sexual de esta población.

  5. Clinical relevance of CHEK2 and NBN mutations in the macedonian population.

    PubMed

    Kostovska, I Maleva; Jakimovska, M; Kubelka-Sabit, K; Karadjozov, M; Arsovski, A; Stojanovska, L; Plaseska-Karanfilska, D

    2015-06-01

    Clinical importance of the most common CHEK2 (IVS2+1 G>A, 1100delC, I157T and del5395) and NBN (R215W and 657del5) gene mutations for breast cancer development in Macedonian breast cancer patients is unknown. We performed a case-control study including 300 Macedonian breast cancer patients and 283 Macedonian healthy controls. Genotyping was done using a fast and highly accurate single-nucleotide primer extension method for the detection of five mutations in a single reaction. The detection of the del5395 was performed using an allele-specific duplex polymerase chain reaction (PCR) assay. We have found that mutations were more frequent in breast cancer patients (n = 13, 4.3%) than in controls (n = 5, 1.8%), although without statistical significance. Twelve patients were heterozygous for one of the analyzed mutations, while one patient had two mutations (NBN R215W and CHEK2 I157T). The most frequent variant was I157T, found in 10 patients and four controls (p = 0.176) and was found to be associated with familial breast cancer (p = 0.041). CHEK2 1100delC and NBN 657del5 were each found in one patient and not in the control group. CHEK2 IVS2+1G>A and del5395 were not found in our cohort. Frequencies of the studied mutations are low and they are not likely to represent alleles of clinical importance in the Macedonian population.

  6. CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

    PubMed

    Weischer, Maren; Heerfordt, Ida M; Bojesen, Stig E; Eigentler, Thomas; Garbe, Claus; Röcken, Martin; Hölmich, Lisbet Rosenkrantz; Schmidt, Henrik; Klyver, Helle; Bastholt, Lars; Nordestgaard, Børge G

    2012-02-01

    It is possible that reduced function of DNA repair and cell-cycle control genes increases the individual susceptibility to malignant melanoma. As CHEK2 is a cell-cycle master controller, we tested the hypothesis that heterozygosity for the frameshift alteration CHEK2*1100delC is associated with increased risk of malignant melanoma. First, we performed case-control studies of 1,152 Danish and 752 German individuals with malignant melanoma compared with 9,142 Danish and 3,718 German controls. Second, we performed a meta-analysis of CHEK2*1100delC and malignant melanoma, involving 2,619 cases and 17,481 controls. Third, we examined the risk of malignant melanoma associated with CHEK2*1100delC heterozygosity in an analysis stratified for sun exposure, as well as for subtype and location on the body. The odds ratios for malignant melanoma for CHEK2(*)1100del heterozygotes compared with those for noncarriers were 2.01 (95% confidence interval (CI), 1.03-3.91) in Danes, 1.42 (95% CI, 0.46-4.31) in Germans, and 1.79 (95% CI, 1.02-3.17) in Danes and Germans combined. In a meta-analysis, the odds ratio of malignant melanoma for CHEK2*1100delC heterozygotes compared with that for noncarriers was 1.81 (95% CI, 1.07-3.05). Stratifications did not alter these results. CHEK2*1100delC heterozygotes have a twofold risk of malignant melanoma compared with noncarriers.

  7. Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America.

    PubMed

    Iniesta, Maria D; Gorin, Michael A; Chien, Ling-Chen; Thomas, Samantha M; Milliron, Kara J; Douglas, Julie A; Merajver, Sofia D

    2010-10-15

    The CHEK2*1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been described in Northern and Eastern European countries; the frequency may be much lower in North America. In this study, our aim was to determine the frequency of CHEK2*1100delC in members of breast cancer families who tested negative for a deleterious mutation in BRCA1/2 at the University of Michigan Comprehensive Cancer Center. We genotyped 102 members from 90 families for CHEK2*1100delC. Most of these families had several cases of breast cancer or ovarian cancer (or both), as well as multiple members with other cancer types in a single lineage. No CHEK2*1100delC mutations were detected in any of the 102 individuals, including 51 women diagnosed with breast cancer at an early age (<45 years), 8 women with bilateral breast cancer, 3 men with breast cancer, and 8 women with ovarian cancer. Our data are consistent with the reported very low frequency of CHEK2*1100delC mutations in North American populations (compared with Northern Europe), rendering CHEK2*1100delC such an unlikely culprit in BRCA1/2 negative families that routine testing of these families appears unwarranted. Copyright © 2010 Elsevier Inc. All rights reserved.

  8. Photography and Neobaroque Imaginary in Julio Cortázar's "Las babas del diablo": Can the Neobaroque Name a Photograph?

    ERIC Educational Resources Information Center

    Hakobyan, Liana

    2018-01-01

    This article examines Julio Cortázar's short story "Las babas del diablo" from a visual perspective and at the intersection of Roland Barthes's ideas on photography and Severo Sarduy's theory on the Neobaroque. I propose that in "Las babas del diablo" photography and the Neobaroque--two seemingly unrelated concepts--interact…

  9. [The diffusion of knowledge].

    PubMed

    Ramiro-H, Manuel; Cruz-A, Enrique

    2016-01-01

    Between August 19 and 21, the Feria del Libro de las Ciencias de la Salud (Healthcare Book Fair) took place in the Palacio de Medicina in Mexico City. Archives of Medical Research, Revista Médica del IMSS, and Saber IMSS, three of the main instruments of knowledge diffusion of the Instituto Mexicano del Seguro Social, assisted to this book fair, which was organized by the Facultad de Medicina of UNAM.

  10. Publications on Aerospace Medicine of Dr. H. J. /Von Beckh (1941 - 1987)

    DTIC Science & Technology

    1986-12-31

    Ciclo de Conferencias sobre Medicina A~ro-espacial coincidiendo con el XVII. Congreso Internacional Astronautico. Inspeccion General de Sanidad del...Astronautica (Medical Problems of Astronautics). Sexta Con- 14 NADC 86147 -60 ferencia del Ciclo 1952 de la Sociedad Argentina Interplanetaria...del ciclo 1953 de ia Sociedad Argentina Interplanetaria. Auditorium of the Department of Physiology, Medical School. University of Buenos Aires. 20 Aug

  11. El aprendizaje significativo en las ciencias al participar en proyectos de investigacion cientifica

    NASA Astrophysics Data System (ADS)

    Mora Polanco, Miguelena

    La ciencia es el eje fundamental a traves del cual se desarrollan las habilidades necesarias para el pensar cientifico que va a la busqueda del conocimiento cientifico. La intencion de este estudio fue indagar en el tema de investigacion cientifica desde el punto de vista de los participantes en los siguientes aspectos relacionados con la experiencia de investigacion cientifica: a) conceptos, b) proceso, c) destrezas y d) disposicion. Tambien se analizaron: a) las perspectivas del metodo cientifico, b) la estrategia de ensenanza, c) la cultura cientifica y d) la exposicion del proyecto investigativo en la Feria Cientifica; como parte del aprendizaje significativo de la ciencias de los participantes. Esta investigacion cualitativa propuso como diseno el estudio de caso. Los aspectos relacionados a la experiencia de participar en proyecto de investigacion cientifica son el fenomeno o caso bajo estudio. En el estudio participaron cinco (5) estudiantes egresados de escuela publica o privada que cursaban hasta el tercer ano de estudios universitarios, conducentes a un bachillerato en educacion secundaria en ciencias o en ciencias naturales. Las tecnicas utilizadas para recopilar los datos fueron: analisis de documentos del DEPR, revision de artefactos y entrevistas profundas. Para el analisis de los datos de las entrevistas se utilizo el modelo de Wolcott (1994). Del analisis de documentos del DEPR se identificaron areas a mejorar en las guias de las cartas circulares con relacion a la investigacion escolar y la feria cientifica. El analisis de los artefactos proveyo evidencia de como los internados, simposios e investigaciones fomentan el que los estudiantes se superen en el aspecto cognitivo, se conviertan en creadores del conocimiento, al hacer suyo los conceptos para poder explicarlos al publico. De las entrevistas los participantes manifestaron que la experiencia de investigacion fue una de aprendizaje significativo que los marco para toda la vida y les expandio su curiosidad de modo que lo aplican en su vida. La experiencia los ayudo en el entendimiento y la aplicacion de conceptos, procesos y destrezas relacionados con la ciencia. Finalmente, los participantes proveyeron las estrategias didacticas que desde su perspectiva facilitan la ensenanza-aprendizaje de la ciencia.

  12. Molecular Characterization of β-Thalassemia Intermedia in Southeast Iran.

    PubMed

    Miri-Moghaddam, Ebrahim; Bahrami, Sara; Naderi, Majid; Bazi, Ali; Karimipoor, Morteza

    2016-06-01

    Inheritance of mild mutations within the β-globin gene and coinheritance of α-thalassemia (α-thal) are known as two important genetic modifiers in β-thalassemia (β-thal) intermedia (β-TI). We aimed to evaluate the spectrum of β- and α-thal mutations in β-TI patients in Southeast Iran. Common β- and α-globin gene mutations were detected by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and multiplex gap-PCR, respectively. There were 26 male (57.8%) and 19 female (42.2%) patients. HBB: c.92 + 5T > C [IVS-I-5 (G > C)] and HBB: c.-138C + 1G > A [IVS-II-I (G > A)] represented the prevalent alleles with respective frequencies of 60.0 and 10.0%. Other β-globin mutations included HBB: c.-138C > T [-88 (C > T)], HBB: c.27_28insG [frameshift codons (FSC) 8/9 (+G)], HBB: c.46delT [codon 15 (-T)], HBB: c.93-22_95del (IVS-I, 25 del), and the 619 bp deletion (NG_000007.3: g.71609_72227del619). The predominant genotypic combinations were β(0)/β(0) (68.9%), β(0)/β(+ )(8.9%) and β(+)/β(+ )(2.2%). Coinheritance of α-thal was observed in 33.0% of the patients, with the -α(3.7) (rightward) (NG_000006.1: g.34164_37967del3804) as the most common deletion (86.0%). One patient was diagnosed with the -α(4.2) (leftward) (AF221717) and one with the - -(MED) (g.24664_41064del16401) deletions, while no patients carried the -(α)(20.5) (g.15164_37864del22701), α(-5 nt) (HBA2: c.95 + 2_95_6delTGAGG) or codon 19 (-G) (HBA2: c.56delG) mutations. The alleviating molecular mechanism was not explainable by β(+ )or concurrent α-thal in more than half of our β-TI patients. This encourages conducting more studies to identify other contributing factors, especially Hb F-inducing genetic modifiers.

  13. Estudio fenomenologico del conocimiento curricular y conocimiento de contenido en maestros de matematica a nivel secundario

    NASA Astrophysics Data System (ADS)

    Cardona Tomassini, Ivan Javier

    En esta investigacion se estudio el fenomeno del conocimiento de contenido y el conocimiento curricular de maestros de matermaticas y como estos dos componentes se reflejan en su conocimiento pedagogico del contenido. El conocimiento de contenido es el conocimiento que tienen los maestros de los contenidos de una disciplina y sobre la estructura de su organizacion (Shulman, 1986). El conocimiento curricular es el conocimiento que los maestros poseen sobre los componentes de un curriculo disenado para ensenar un topico de una materia especifica a un nivel particular, la variedad de instrumentos instruccionales disponibles para implementar el mismo y como utilizar los instrumentos curriculares disponibles (Ball & Bass, 2003; Choppin, 2009; Hill, Rowan, & Ball, 2005). Este estudio se enmarca en el paradigma cualitativo, teniendo como diseno el estudio fenomenologico (Lucca y Berrios, 2009; McMillan, 2004). Los participantes fueron seis maestros de matermaticas del nivel superior (10mo a 12mo grado). Al momento de la investigacion los participantes ensenaban en escuelas publicas o privadas de Puerto Rico. Para recolectar la informacion se utilizo un grupo focal en donde los maestros resolvieron seis ejercicios matematicos y posteriormente reflexionaron en forma grupal sobre las soluciones. Tambien se realizo un analisis de documentos de planificacion y se llevaron a cabo entrevistas semiestructuradas. Se exploraron los contenidos relacionados a la ecuacion de una recta, rectas verticales y horizontales, suma y multiplicacion de polinomios, resolucion de ecuaciones cuadraticas y distancia entre dos puntos del plano cartesiano. Los resultados muestran que los participantes tienen dominio procesal de los contenidos correspondientes a las rectas verticales y horizontales, la suma y multiplicacion de polinomios, el calculo distancia entre dos puntos del plano cartesiano. Sin embargo, se noto cierta dificultad en la explicacion conceptual de los contenidos relacionados a la ecuacion de la recta, las rectas verticales y horizontales y la solucion de ecuaciones cuadraticas. Lo cual permite concluir que los participantes demuestran mejor dominio del conocimiento procesal que del conocimiento conceptual. Estos es un reflejo del efecto de una instruccion enfocada en desarrollar los procesos algoritmicos ya que la explicacion con sentido de los procesos pasa a un segundo plano.

  14. Torres del Paine National Park

    NASA Image and Video Library

    2017-12-08

    Grinding glaciers and granite peaks mingle in Chile’s Torres del Paine National Park. The Advanced Land Imager (ALI) on NASA’s Earth Observing-1 (EO-1) satellite captured this summertime image of the park on January 21, 2013. This image shows just a portion of the park, including Grey Glacier and the mountain range of Cordillera del Paine. The rivers of glacial ice in Torres del Paine National Park grind over bedrock, turning some of that rock to dust. Many of the glaciers terminate in freshwater lakes, which are rich with glacial flour that colors them brown to turquoise. Skinny rivers connect some of the lakes to each other (image upper and lower right). Cordillera del Paine rises between some of the wide glacial valleys. The compact mountain range is a combination of soaring peaks and small glaciers, most notably the Torres del Paine (Towers of Paine), three closely spaced peaks emblematic of the mountain range and the larger park. By human standards, the mountains of Cordillera del Paine are quite old. But compared to the Rocky Mountains (70 million years old), and the Appalachians (about 480 million years), the Cordillera del Paine are very young—only about 12 million years old. A study published in 2008 described how scientists used zircon crystals to estimate the age of Cordillera del Paine. The authors concluded that the mountain range was built in three pulses, creating a granite laccolith, or dome-shaped feature, more than 2,000 meters (7,000 feet) thick. NASA Earth Observatory image created by Jesse Allen and Robert Simmon, using Advanced Land Imager data from the NASA EO-1 team. Caption by Michon Scott. Instrument: EO-1 - ALI View more info: earthobservatory.nasa.gov/IOTD/view.php?id=80266 Credit: NASA Earth Observatory NASA image use policy. NASA Goddard Space Flight Center enables NASA’s mission through four scientific endeavors: Earth Science, Heliophysics, Solar System Exploration, and Astrophysics. Goddard plays a leading role in NASA’s accomplishments by contributing compelling scientific knowledge to advance the Agency’s mission. Follow us on Twitter Like us on Facebook Find us on Instagram

  15. May Gödel's Ideas Be Addressed Philosophically?

    NASA Astrophysics Data System (ADS)

    Dokulil, Miloš

    2007-11-01

    Gödel emphasised philosophy as an important tool in science. Much less is known about his religious background. We should bear in mind that our evaluational perspective differs very much from the one in which Gödel lived. He was personally sure that there must be another existence after death-an afterlife (''of unlimited life span''). As a ''Baptized Lutheran'' he did not include ''Trinity'' in his creed. He was also certain that mind is separate from matter. This text tries to include Libet's ''readiness potential'' into the debate concerning the specificity of the mind. Neither Gödel's identification of materialism with mechanism nor his vision of the ''spirit'' are a viable solution of the problem.

  16. Morphology, geology and geochemistry of the "Salar del Gran Bajo del Gualicho" (Rio Negro, Argentina)

    USGS Publications Warehouse

    Angelucci, A.; Barbieri, M.; Brodtkorb, A.; Ciccacci, S.; Civitelli, G.; De Barrio, R.; Di, Filippo M.; Fredi, P.; Friedman, I.; Lombardi, S.; Schalamuk, A.I.; Toro, B.

    1996-01-01

    A multidisciplinary study of the Gran Bajo del Gualicho area (Rio Negro - Argentina) was carried out; the aim was to delineate its geological and geomorphological evolution and to estabilish the genesis of salts filling the depression. Climatic conditions were analized first to individuate their role in the present morphogenetic processes; moreover the main morphological features of present landscape were examined as well as the stratigraphy of the outcropping formations, and of the Gran Bajo del Gualicho Formation in particular. Finally, a possible geomorphological evolution of the studied area was traced. Geophysical analyses allowed to estabilish that the paleosurface shaped on the crystalline basement is strongly uneven and shows evidence of the strong tectonic phases it underwent. The result of isotope analyses confirmed that the salt deposits on the Gran Bajo del Gualicho bottom were produced by fresh water evaporation, while strontium isotope ratio suggested that such waters were responsible for solubilization of more ancient evaporitic deposits.

  17. Stellar Mixing: I. Formalism

    NASA Technical Reports Server (NTRS)

    Canuto, V .M.

    2011-01-01

    In this paper we use the Reynolds stress models (RSM) to derive algebraic expressions for the following variables: a) heat fluxes; b) J.l fluxes; and c) momentum fluxes. These relations, which are fully 3D, include: 1) stable and unstable stratification, represented by the Brunt-Vaislila frequency, N(exp 2) =-g/H(sub p_(del - del(sub ad))(1 - RI(sub mu)); 2) double diffusion, salt-fingers, and semi-convection, represented by the density ratio R(sub mu) = del(sub mu)/(del - del(sub ad)); 3) shear (differential rotation), represented by the mean squared shear Sigma(exp 2) or by the Richardson number, Ri =N(exp 2)Sigma(exp -2); 4) radiative losses represented by a Peclet number, Pe; 5) a complete analytical solution of the ID version of the model. In general, the model requires the solution of two differential equations for the eddy kinetic energy K and its rate of dissipation, epsilon. In the local and stationary cases, when production equals dissipation, the model equations are all algebraic.

  18. Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice.

    PubMed

    D'Antonio, Maurizio; Musner, Nicolò; Scapin, Cristina; Ungaro, Daniela; Del Carro, Ubaldo; Ron, David; Feltri, M Laura; Wrabetz, Lawrence

    2013-04-08

    P0 glycoprotein is an abundant product of terminal differentiation in myelinating Schwann cells. The mutant P0S63del causes Charcot-Marie-Tooth 1B neuropathy in humans, and a very similar demyelinating neuropathy in transgenic mice. P0S63del is retained in the endoplasmic reticulum of Schwann cells, where it promotes unfolded protein stress and elicits an unfolded protein response (UPR) associated with translational attenuation. Ablation of Chop, a UPR mediator, from S63del mice completely rescues their motor deficit and reduces active demyelination by half. Here, we show that Gadd34 is a detrimental effector of CHOP that reactivates translation too aggressively in myelinating Schwann cells. Genetic or pharmacological limitation of Gadd34 function moderates translational reactivation, improves myelination in S63del nerves, and reduces accumulation of P0S63del in the ER. Resetting translational homeostasis may provide a therapeutic strategy in tissues impaired by misfolded proteins that are synthesized during terminal differentiation.

  19. DelPhi Web Server: A comprehensive online suite for electrostatic calculations of biological macromolecules and their complexes

    PubMed Central

    Sarkar, Subhra; Witham, Shawn; Zhang, Jie; Zhenirovskyy, Maxim; Rocchia, Walter; Alexov, Emil

    2011-01-01

    Here we report a web server, the DelPhi web server, which utilizes DelPhi program to calculate electrostatic energies and the corresponding electrostatic potential and ionic distributions, and dielectric map. The server provides extra services to fix structural defects, as missing atoms in the structural file and allows for generation of missing hydrogen atoms. The hydrogen placement and the corresponding DelPhi calculations can be done with user selected force field parameters being either Charmm22, Amber98 or OPLS. Upon completion of the calculations, the user is given option to download fixed and protonated structural file, together with the parameter and Delphi output files for further analysis. Utilizing Jmol viewer, the user can see the corresponding structural file, to manipulate it and to change the presentation. In addition, if the potential map is requested to be calculated, the potential can be mapped onto the molecule surface. The DelPhi web server is available from http://compbio.clemson.edu/delphi_webserver. PMID:24683424

  20. Estudio teórico del CO2. Orbitales de valencia y del ``core''

    NASA Astrophysics Data System (ADS)

    Olalla Gutiérrez, E.

    Hemos calculado las intensidades de las transiciones E1 a los miembros de las series de Rydberg con origen en los orbitales ``no enlazantes'' del dióxido de carbono, especie de conocida relevancia atmosférica. Se han computado, asimismo, los continuos de fotoionización correspondientes a los distintos canales de ionización, representándolos como densidad espectral de fuerza de oscilador frente a la energía del fotón incidente; mostramos los resultados df/dE para la fotoionización total de esta especie en el intervalo 15-60 eV. Todos los cálculos se han llevado a cabo mediante la formulación Molecular del Método de los Orbitales de Defecto Cuántico, MQDO [1,2]. La calidad de los resultados que presentamos se ha evaluado en base a la comparación con los datos, tanto experimentales como teóricos, disponibles en la bibliografía. El acuerdo encontrado es altamente satisfactorio

  1. Los bosques de Puerto Rico, 2009

    Treesearch

    Humfredo Marcano Vega; Thomas J. Brandeis; Jeffery A. Turner; No Other

    2015-01-01

    Este informe presenta los resultados del cuarto inventario forestal de las islas del Estado Libre Asociado de Puerto Rico. El área de bosque en la isla grande de Puerto Rico se mantuvo constante o aumentó ligeramente del año 2004 al 2009. Este cambio parece indicar que la tasa de incremento de cubierta forestal en la isla grande de Puerto Rico ha disminuido desde que...

  2. 77 FR 4897 - Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, VA

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-01

    ...-AA00 Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, VA AGENCY: Coast... provide for the safety of life on navigable waters during the live-fire gun exercises on the M/V Del Monte... associated with the live-fire gun exercise. DATES: This rule is effective in the CFR on February 1, 2012...

  3. 76 FR 31848 - Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, Virginia

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-02

    ...-AA00 Safety Zone; M/V Del Monte Live-Fire Gun Exercise, James River, Isle of Wight, Virginia AGENCY... provide for the safety of life on navigable waters during the live-fire gun exercises on the M/V Del Monte... associated with the live-fire gun exercise. DATES: This rule will be effective from 11 a.m. June 6, 2011...

  4. Eruptive Massive Vector Particles of 5-Dimensional Kerr-Gödel Spacetime

    NASA Astrophysics Data System (ADS)

    Övgün, A.; Sakalli, I.

    2018-02-01

    In this paper, we investigate Hawking radiation of massive spin-1 particles from 5-dimensional Kerr-Gödel spacetime. By applying the WKB approximation and the Hamilton-Jacobi ansatz to the relativistic Proca equation, we obtain the quantum tunneling rate of the massive vector particles. Using the obtained tunneling rate, we show how one impeccably computes the Hawking temperature of the 5-dimensional Kerr-Gödel spacetime.

  5. The ISI Tunnel

    DTIC Science & Technology

    1993-10-01

    INFORMATION SCIENCES 310/822-1511 INSTITUTE 4676 Admrraltp Wa.v/Marina del Rev/calfornia 90292-6695 The ISI "Tunnel" Annette DeSchon and Danny Cohen...ISI/SR-93-358 October 1993 University of Southern California Information Sciences Institute 4676 Adniralry Way, Marina del Rey, CA 90292-6695 310-822...ES) B. PERFORMING ORGANIZATION USC/ Information Science Institute 4676 Admiralty Way ISI/SR-93-358 Marina del Rey, CA 90292-6695 2. SPONSORING

  6. [Promising networks, fruitful inquiry].

    PubMed

    Frenk, Silvestre

    2014-01-01

    This supplement of the Revista Médica del Instituto Mexicano del Seguro Social includes 10 original contributions, and also six current themes, all of them related to childhood obesity. It is the result of an institutional program that it has been identified as Redes de Investigación Institucional, and it has been promoted and developed by the Coordinación de Investigación of the Instituto Mexicano del Seguro Social.

  7. El Atlas del Bosque Nacional El Yunque

    Treesearch

    Maya Quiñones; Isabel K. Parés-Ramos; William A. Gould; Grizelle Gonzalez; Kathleen McGinley; Pedro. Ríos

    2018-01-01

    Esta publicación es un esfuerzo colaborativo entre el Instituto Internacional de Dasonomía Tropical y el Bosque Nacional El Yunque para proveer mapas y análisis de información espacial actualizados sobre una importante reserva natural en Puerto Rico y el único bosque tropical dentro del Sistema de Bosques Nacionales de los Estados Unidos. El Atlas del Bosque Nacional...

  8. Detecting a hierarchical genetic population structure via Multi-InDel markers on the X chromosome

    PubMed Central

    Fan, Guang Yao; Ye, Yi; Hou, Yi Ping

    2016-01-01

    Detecting population structure and estimating individual biogeographical ancestry are very important in population genetics studies, biomedical research and forensics. Single-nucleotide polymorphism (SNP) has long been considered to be a primary ancestry-informative marker (AIM), but it is constrained by complex and time-consuming genotyping protocols. Following up on our previous study, we propose that a multi-insertion-deletion polymorphism (Multi-InDel) with multiple haplotypes can be useful in ancestry inference and hierarchical genetic population structures. A validation study for the X chromosome Multi-InDel marker (X-Multi-InDel) as a novel AIM was conducted. Genetic polymorphisms and genetic distances among three Chinese populations and 14 worldwide populations obtained from the 1000 Genomes database were analyzed. A Bayesian clustering method (STRUCTURE) was used to discern the continental origins of Europe, East Asia, and Africa. A minimal panel of ten X-Multi-InDels was verified to be sufficient to distinguish human ancestries from three major continental regions with nearly the same efficiency of the earlier panel with 21 insertion-deletion AIMs. Along with the development of more X-Multi-InDels, an approach using this novel marker has the potential for broad applicability as a cost-effective tool toward more accurate determinations of individual biogeographical ancestry and population stratification. PMID:27535707

  9. PubMed

    Wanden-Berghe Lozano, Carmina; Campos Martín, Cristina; Cuerda Compes, Cristina; Gómez Candela, Carmen; Burgos Peláez, Rosa; Moreno Villares, José Manuel; Pereira Cunill, José Luis; Pérez de la Cruz, Antonio; Virgili Casas, Nuria; Martinez Faedo, Ceferino; Álvarez Hernández, Julia; Garde Orbaiz, Carmen; Penacho Lázaro, Mª Ángeles; Sánchez Martos, Eva Ángeles; Sanz Paris, Alejandro; Gonzalo Marín, Montserrat; Zugasti Murillo, Ana; Matía Martín, Pilar; Martín Folgueras, Tomás; Carabaña Pérez, Fátima; Díaz Guardiola, Patricia; Tejera Pérez, Cristina; De Luis Román, Daniel; Luengo Pérez, Luis Miguel; Santacruz Carmona, Nieves; Apezetxea Celaya, Antxón; Ponce González, Miguel Ángel; Urgeles Planella, Juan Ramón; Laborda González, Lucía; Martinez Olmos, Miguel Ángel; Sánchez-Vilar Burdiel, Olga; Joaquín Ortiz, Clara; Martínez Costa, Cecilia; Suárez Llanos, José Pablo; Calleja Fernández, Alicia; Leyes García, Pere; Gil Martinez, Mª Carmen; Mauri Roca, Silvia; García Zafra, Maria Victoria; Carrera Santaliestra, María José; Nadya-Senpe, Grupo

    2016-11-29

    Objetivo: Comunicar los datos del registro de Nutrición Parenteral Domiciliaria (NPD) del grupo de trabajo NADYA-SENPE del años 2015.Material y métodos: Recopilación de los datos de NPD del registro "on-line" del grupo de Nutrición Artificial Domiciliaria y Ambulatoria (NADYA) desde el 1 de enero de 2015 al 31 de diciembre de 2015.Resultados: Se registraron 236 pacientes, con 243 episodios de NPD procedentes de 40 hospitales. Lo que representa una tasa de 5,08 pacientes/millón de habitantes/ año 2015. La patología más frecuente en los adultos fue "otros" (26,3%) seguido por "oncológico paliativo" (21,6%).  La complicación más frecuente fue la séptica relacionada con el catéter que presentó una tasa de 0,53 infecciones/1000 días de NPD. Finalizaron 64 episodios, la principal causa fue el fallecimiento (43,7%) y el 'paso a la vía oral' (32,8%).Conclusiones: constatamos el aumento de los centros y profesionales colaboradores, dando respuesta a la cantidad progresivamente mayor de pacientes con soporte nutricional parenteral en domicilio. Se mantienen estables las principales indicaciones para el establecimiento de NPD y las causas de finalización del tratamiento.

  10. Developmental endothelial locus-1 modulates platelet-monocyte interactions and instant blood-mediated inflammatory reaction in islet transplantation.

    PubMed

    Kourtzelis, Ioannis; Kotlabova, Klara; Lim, Jong-Hyung; Mitroulis, Ioannis; Ferreira, Anaisa; Chen, Lan-Sun; Gercken, Bettina; Steffen, Anja; Kemter, Elisabeth; Klotzsche-von Ameln, Anne; Waskow, Claudia; Hosur, Kavita; Chatzigeorgiou, Antonios; Ludwig, Barbara; Wolf, Eckhard; Hajishengallis, George; Chavakis, Triantafyllos

    2016-04-01

    Platelet-monocyte interactions are strongly implicated in thrombo-inflammatory injury by actively contributing to intravascular inflammation, leukocyte recruitment to inflamed sites, and the amplification of the procoagulant response. Instant blood-mediated inflammatory reaction (IBMIR) represents thrombo-inflammatory injury elicited upon pancreatic islet transplantation (islet-Tx), thereby dramatically affecting transplant survival and function. Developmental endothelial locus-1 (Del-1) is a functionally versatile endothelial cell-derived homeostatic factor with anti-inflammatory properties, but its potential role in IBMIR has not been previously addressed. Here, we establish Del-1 as a novel inhibitor of IBMIR using a whole blood-islet model and a syngeneic murine transplantation model. Indeed, Del-1 pre-treatment of blood before addition of islets diminished coagulation activation and islet damage as assessed by C-peptide release. Consistently, intraportal islet-Tx in transgenic mice with endothelial cell-specific overexpression of Del-1 resulted in a marked decrease of monocytes and platelet-monocyte aggregates in the transplanted tissues, relative to those in wild-type recipients. Mechanistically, Del-1 decreased platelet-monocyte aggregate formation, by specifically blocking the interaction between monocyte Mac-1-integrin and platelet GPIb. Our findings reveal a hitherto unknown role of Del-1 in the regulation of platelet-monocyte interplay and the subsequent heterotypic aggregate formation in the context of IBMIR. Therefore, Del-1 may represent a novel approach to prevent or mitigate the adverse reactions mediated through thrombo-inflammatory pathways in islet-Tx and perhaps other inflammatory disorders involving platelet-leukocyte aggregate formation.

  11. Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma.

    PubMed

    Smol, Thomas; Dufour, Annika; Tricot, Sabine; Wemeau, Mathieu; Stalnikiewicz, Laure; Bernardi, Franck; Terré, Christine; Ducourneau, Benoît; Bisiau, Hervé; Daudignon, Agnès

    2017-01-01

    Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in the literature. Two hundred thirty-three patients with MM at diagnosis were studied using FISH to target 4 unfavorable cytogenetic abnormalities: 17p13 deletion, t(4;14) translocation, 1p32 deletion and 1q21 gain. Technical thresholds were determined for each probe using isolated CD138-expressing PC from patients without MM. The FISH analysis identified abnormalities in 79.0% of patients. Del(17p13) was detected in 15.0% of cases, t(4;14) in 11.5%, 1q21 gain in 37.8% and del(1p32) in 8.7%. Adding 1p32/1q21 FISH probes has enabled us to identify adverse cytogenetic profiles in 39.0% of patients without del(17p13) or t(4;14). Clonal heterogeneity was observed in 51.1% of patients as well as an increase in the number of adverse abnormalities when related clones were greater than or equal to 2 (85.1% against 45.6%). FISH allowed detecting accumulation of adverse abnormalities and clonal heterogeneity in MM with a combination of 4 probes. The impacts of these two parameters need to be evaluated, and could be included in future cytogenetic classifications.

  12. Bedsharing at home, breastfeeding and sudden infant death. Recommendations for health professionals

    PubMed

    2017-10-01

    El Grupo de Trabajo en Muerte Súbita e Inesperada del Lactante, junto con la Subcomisión de Lactancia Materna de la Sociedad Argentina de Pediatría, elaboraron nuevas recomendaciones sobre la práctica del colecho, en la cual el niño duerme en la misma superficie junto a su madre, situación que es motivo de controversia. El colecho favorece la lactancia materna, que, a su vez, es protectora de la muerte súbita del lactante. Un pequeño grupo de niños presenta mayor riesgo de muerte súbita del lactante y accidentes fatales durante el colecho en ciertas circunstancias, que incluyen dormir en un sillón o sofá, padres fumadores, ingesta de sedantes, drogas y/o consumo de alcohol, niños prematuros y/o de bajo peso. El colecho en niños alimentados con leche humana, sin los factores de riesgo mencionados y con padres responsables de implementar un ambiente de sueño seguro, no aumenta el riesgo de muerte súbita del lactante. Esta guía no recomienda taxativamente la prohibición del colecho. Instruye a los profesionales de la salud a propalar a las familias un mensaje balanceado que incluya tanto los riesgos como los beneficios del colecho, lo que les permite a los padres una decisión informada al respecto. El documento señala que la cohabitación sin colecho es el lugar más seguro para los bebés al momento de dormir.

  13. An unexpected effect of TNF-α on F508del-CFTR maturation and function

    PubMed Central

    Bitam, Sara; Urbach, Valérie; Sermet-Gaudelus, Isabelle; Hinzpeter, Alexandre; Edelman, Aleksander

    2015-01-01

    Cystic fibrosis (CF) is a multifactorial disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene ( CFTR), which encodes a cAMP-dependent Cl - channel. The most frequent mutation, F508del, leads to the synthesis of a prematurely degraded, otherwise partially functional protein. CFTR is expressed in many epithelia, with major consequences in the airways of patients with CF, characterized by both fluid transport abnormalities and persistent inflammatory responses. The relationship between the acute phase of inflammation and the expression of wild type (WT) CFTR or F508del-CFTR is poorly understood. The aim of the present study was to investigate this effect. The results show that 10 min exposure to TNF-alpha (0.5-50ng/ml) of F508del-CFTR-transfected HeLa cells and human bronchial cells expressing F508del-CFTR in primary culture (HBE) leads to the maturation of F508del-CFTR and induces CFTR chloride currents. The enhanced CFTR expression and function upon TNFα is sustained, in HBE cells, for at least 24 h. The underlying mechanism of action involves a protein kinase C (PKC) signaling pathway, and occurs through insertion of vesicles containing F508del-CFTR to the plasma membrane, with TNFα behaving as a corrector molecule. In conclusion, a novel and unexpected action of TNFα has been discovered and points to the importance of systematic studies on the roles of inflammatory mediators in the maturation of abnormally folded proteins in general and in the context of CF in particular. PMID:26594334

  14. CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.

    PubMed

    Yang, Yuan; Zhang, Fan; Wang, Yang; Liu, Sheng-Chun

    2012-01-01

    Links between the CHEK2 1100delC heterozygote and breast cancer risk have been extensively explored. However, both positive and negative associations with this variant have been reported in individual studies. For a detailed assessment of the CHEK2 1100delC heterozygote and breast cancer risk, relevant studies published as recently as May 2012 were identified using PUBMED and EMBASE and selected using a priori defined criteria. The strength of the relationship between the CHEK2 1100delC variant and breast cancer risks was assessed by odds ratios (ORs) under the fixed effects model. A total of 29,154 cases and 37,064 controls from 25 case-control studies were identified in this meta-analysis. The CHEK2 1100delC heterozygote was more frequently detected in cases than in controls (1.34% versus 0.44%). A significant association was found between CHEK2 1100delC heterozygote and breast cancer risk (OR=2.75, 95% CI: [2.25, 3.36]). The ORs and CIs were 2.33 (95% CI: [1.79, 3.05]), 3.72 (95% CI: [2.61, 5.31]) and 2.78 (95% CI: [2.28, 3.39]) respectively in unselected, family, early-onset breast cancer subgroups. The CHEK2 1100delC variant could be a potential factor for increased breast cancer risk in Caucasians. However, more consideration is needed in order to apply it to allele screening or other clinical work.

  15. CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases.

    PubMed

    Apostolou, Paraskevi; Fostira, Florentia; Papamentzelopoulou, Myrto; Michelli, Maria; Panopoulos, Christos; Fountzilas, George; Konstantopoulou, Irene; Voutsinas, Gerassimos E; Yannoukakos, Drakoulis

    2015-04-01

    The CHEK2 gene encodes a protein kinase that plays a crucial role in maintenance of genomic integrity and the DNA repair mechanism. CHEK2 germline mutations are associated with increased risk of breast cancer and other malignancies. From a clinical perspective, the most significant mutation identified is the c.1100delC mutation, which is associated with an approximately 25% lifetime breast cancer risk. The distribution of this mutation shows wide geographical variation; it is more prevalent in the Northern European countries and less common, or even absent, in Southern Europe. In order to estimate the frequency of the CHEK2 c.1100delC mutation in Greek breast cancer patients, we genotyped 2,449 patients (2,408 females and 41 males), which was the largest series ever tested for c.1100delC. The mean age of female and male breast cancer diagnosis was 49 and 59 years, respectively. All patients had previously tested negative for the Greek BRCA1 founder and recurrent mutations. The CHEK2 c.1100delC mutation was detected in 0.16% (4 of 2,408) of females, all of whom were diagnosed with breast cancer before the age of 50 years. Only one c.1100delC carrier was reported with breast cancer family history. The present study indicates that the CHEK2 c.1100delC mutation does not contribute substantially to hereditary breast cancer in patients of Greek descent. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Non-native Conformers of Cystic Fibrosis Transmembrane Conductance Regulator NBD1 Are Recognized by Hsp27 and Conjugated to SUMO-2 for Degradation.

    PubMed

    Gong, Xiaoyan; Ahner, Annette; Roldan, Ariel; Lukacs, Gergely L; Thibodeau, Patrick H; Frizzell, Raymond A

    2016-01-22

    A newly identified pathway for selective degradation of the common mutant of the cystic fibrosis transmembrane conductance regulator (CFTR), F508del, is initiated by binding of the small heat shock protein, Hsp27. Hsp27 collaborates with Ubc9, the E2 enzyme for protein SUMOylation, to selectively degrade F508del CFTR via the SUMO-targeted ubiquitin E3 ligase, RNF4 (RING finger protein 4) (1). Here, we ask what properties of CFTR are sensed by the Hsp27-Ubc9 pathway by examining the ability of NBD1 (locus of the F508del mutation) to mimic the disposal of full-length (FL) CFTR. Similar to FL CFTR, F508del NBD1 expression was reduced 50-60% by Hsp27; it interacted preferentially with the mutant and was modified primarily by SUMO-2. Mutation of the consensus SUMOylation site, Lys(447), obviated Hsp27-mediated F508del NBD1 SUMOylation and degradation. As for FL CFTR and NBD1 in vivo, SUMO modification using purified components in vitro was greater for F508del NBD1 versus WT and for the SUMO-2 paralog. Several findings indicated that Hsp27-Ubc9 targets the SUMOylation of a transitional, non-native conformation of F508del NBD1: (a) its modification decreased as [ATP] increased, reflecting stabilization of the nucleotide-binding domain by ligand binding; (b) a temperature-induced increase in intrinsic fluorescence, which reflects formation of a transitional NBD1 conformation, was followed by its SUMO modification; and (c) introduction of solubilizing or revertant mutations to stabilize F508del NBD1 reduced its SUMO modification. These findings indicate that the Hsp27-Ubc9 pathway recognizes a non-native conformation of mutant NBD1, which leads to its SUMO-2 conjugation and degradation by the ubiquitin-proteasome system. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  17. Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation

    PubMed Central

    Stefano, Daniela De; Villella, Valeria R; Esposito, Speranza; Tosco, Antonella; Sepe, Angela; Gregorio, Fabiola De; Salvadori, Laura; Grassia, Rosa; Leone, Carlo A; Rosa, Giuseppe De; Maiuri, Maria C; Pettoello-Mantovani, Massimo; Guido, Stefano; Bossi, Anna; Zolin, Anna; Venerando, Andrea; Pinna, Lorenzo A; Mehta, Anil; Bona, Gianni; Kroemer, Guido; Maiuri, Luigi; Raia, Valeria

    2014-01-01

    Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures rescue the functional expression of the most frequent pathogenic CFTR mutant, F508del, at the respiratory epithelial surface and reduce lung inflammation in CftrF508del homozygous mice. Cysteamine, the reduced form of cystamine, is an FDA-approved drug. Here, we report that oral treatment with cysteamine greatly reduces the mortality rate and improves the phenotype of newborn mice bearing the F508del-CFTR mutation. Cysteamine was also able to increase the plasma membrane expression of the F508del-CFTR protein in nasal epithelial cells from F508del homozygous CF patients, and these effects persisted for 24 h after cysteamine withdrawal. Importantly, this cysteamine effect after washout was further sustained by the sequential administration of epigallocatechin gallate (EGCG), a green tea flavonoid, both in vivo, in mice, and in vitro, in primary epithelial cells from CF patients. In a pilot clinical trial involving 10 F508del-CFTR homozygous CF patients, the combination of cysteamine and EGCG restored BECN1, reduced SQSTM1 levels and improved CFTR function from nasal epithelial cells in vivo, correlating with a decrease of chloride concentrations in sweat, as well as with a reduction of the abundance of TNF/TNF-alpha (tumor necrosis factor) and CXCL8 (chemokine [C-X-C motif] ligand 8) transcripts in nasal brushing and TNF and CXCL8 protein levels in the sputum. Altogether, these results suggest that optimal schedules of cysteamine plus EGCG might be used for the treatment of CF caused by the F508del-CFTR mutation. PMID:25350163

  18. Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.

    PubMed

    Marson, Fernando Augusto de Lima; Bertuzzo, Carmen Silvia; Ribeiro, Maria Ângela Gonçalves de Oliveira; Ribeiro, Antônio Fernando; Ribeiro, José Dirceu

    2013-01-01

    To determine the relevance of screening for the F508del mutation of the cystic fibrosis transmembrane conductance regulator gene as a first step in the genetic diagnosis of cystic fibrosis (CF) by associating the genotype with various clinical variables. We evaluated 180 CF patients regarding the F508del mutation. The clinical data were obtained from the medical records of the patients and from interviews with their parents or legal guardians. Of the 180 patients studied, 65 (36.1%) did not carry the F508del mutation (group 0 [G0]), 67 (37.2%) were F508del heterozygous (G1), and 48 (26.7%) were F508del homozygous (G2). All three groups showed associations with the clinical variables. Homozygosis was associated with younger patients, younger age at CF diagnosis, and younger age at the first isolation of Pseudomonas aeruginosa (PA), as well as with higher prevalence of pancreatic insufficiency (PI) and non-mucoid PA (NMPA) colonization. In comparison with G1+G2 patients, G0 patients were older; first experienced clinical symptoms, digestive disease, and pulmonary disease at an older age; were older at CF diagnosis and at first PA isolation; and had a lower prevalence of PI and meconium ileus, as well as of colonization by NMPA, mucoid PA, and Burkholderia cepacia. In G1 patients, values were intermediate for age at CF diagnosis; age at first PA isolation, first pulmonary symptoms, and first clinical manifestations; MPA colonization; and OR for PI. The identification of F508del in 63.9% of the patients studied showed that this can be a useful tool as a first step in the genetic diagnosis of CF. The F508del genotype was associated with clinical severity of the disease, especially with the variables related to CF onset.

  19. Astronomía Gamma desde El Leoncito

    NASA Astrophysics Data System (ADS)

    Rovero, A. C.; Colombo, E.; Sahade, J.; Weekes, T. C.

    La astronomía gamma, en el extremo de energías detectadas hasta el presente, se encuentra en desarrollo en muchas partes del mundo y proporciona resultados sorprendentes a medida que la tecnología avanza en el desarrollo de nuevos detectores. La técnica Cherenkov Atmosférica es la utilizada para la detección, mediante telescopios en tierra, del efecto secundario causado por la radiación gamma de muy altas energías (E ≈ TeV). Por medio de telescopios o arreglos de detectores y utilizando la técnica mencionada, se han podido detectar algunas fuentes puntuales de mucha importancia astrofísica como la Nebulosa del Cangrejo y la galaxia de núcleo activo Markarian 421. El sistema instalado en San Juan, en cooperación con el grupo de Radiación Gamma del Observatorio Whipple, está constituído por tres colectores de 1.5m que registran pulsos de luz generados por las cascadas de partículas producidas por rayos cósmicos de todo tipo al entrar en la atmósfera terrestre. El sistema opera por barrido en ascención recta de la fuente observada que, para esta etapa del experimento, es el Centro Galáctico. Esta fuente extensa es conocida como emisor gamma de energías inferiores al TeV y ha sido observada anteriormente en este rango de energía desde el hemisferio norte pero con elevaciones bajas, situación no óptima para este tipo de técnica. Se presentan los primeros resultados del análisis de los datos obtenidos observando la región del Centro Galáctico, luego de dos años de observaciones, así como una descripción de la técnica Cherenkov Atmosférica y del equipo utilizado en la experiencia.

  20. Violación del Principio de Equivalencia en Teorías con Dilatón de Cuerdas

    NASA Astrophysics Data System (ADS)

    Landau, S. J.; Sisterna, P. D.; Vucetich, H.

    Se estudian las violaciones al Principio de Equivalencia en Teorías con Dilatón de Cuerdas. En estos modelos, algunas de las constantes fundamentales dependen del espacio y del tiempo. Se muestra que los experimentos de caída libre no tienen aún precisión como para poner límites a los parámetros de la teoría.

  1. El bosque estatal del nuevo milenio antes y después del huracán Georges

    Treesearch

    A.E. Lugo; E. Román Nunci; M. Quinones; H. Marcano Vega; I. Vicéns

    2005-01-01

    We studied changes that occurred between 1997 and 2005 on a secondary wet subtropical urban forest in the University of Puerto Rico’s Botanical Garden (Bosque Estatal del Nuevo Milenio). Hurricane Georges passed south of the forest on November 21, 1998 with 127 km/h winds. The study consisted of identifying species in 40 plots of 254 m2 each, measuring the diameter at...

  2. Local Area Network Strategies and Guidelines for a Peruvian Air Force Computer Center

    DTIC Science & Technology

    1991-03-01

    service elements to support application processes such as job management, and financial data exchange. The layer also supports the virtual terminal and... virtual file concept. [Ref.3 :p. 285] Essentially, the lowest three layers are concerned with the communication protocols associated with the data...General de la Fuerza Aerea Peruana Lima, Republica del Peru 5. Escuela de Oficiales de la Fuerza Aerea Peruana 2 Biblioteca del Grupo del Instruccion Base

  3. Conservacion de truchas del Pacifico

    Treesearch

    Brooke E. Penaluna

    2016-01-01

    La historia de las truchas del Pacífico, pertenecientes al género Oncorhynchus, es una historia muy interesante que se basa en la persistencia y diversificación de sus especies debido, en gran parte, al dinamismo propio que existe en su medio ambiente. Desde el oeste de Norteamérica, extendiéndose hasta el este de Asia, las truchas del Pacífico han experimentado la...

  4. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).

    PubMed

    Bamforth, J S; Lin, C C

    1997-12-31

    DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).

  5. Haptoglobin genotyping of Vietnamese: global distribution of HP del, complete deletion allele of the HP gene.

    PubMed

    Soejima, Mikiko; Agusa, Tetsuro; Iwata, Hisato; Fujihara, Junko; Kunito, Takashi; Takeshita, Haruo; Lan, Vi Thi Mai; Minh, Tu Binh; Takahashi, Shin; Trang, Pham Thi Kim; Viet, Pham Hung; Tanabe, Shinsuke; Koda, Yoshiro

    2015-01-01

    The haptoglobin (HP) gene deletion allele (HP(del)) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. The distribution of this allele has been explored by several groups including ours. Here, we studied the frequency of HP(del) in addition to the distribution of common HP genotypes in 293 Vietnamese. The HP(del) was encountered with the frequency of 0.020. The present result suggested that this deletion allele is restricted to East and Southeast Asians. Thus, this allele seems to be a potential ancestry informative marker for these populations. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  6. Age- and Tumor Subtype–Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

    PubMed Central

    Hogervorst, Frans; van Hien, Richard; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel A.; Meijers, Hanne; Waisfisz, Quinten; Hollestelle, Antoinette; Schutte, Mieke; van den Ouweland, Ans; Hooning, Maartje; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Antoniou, Antonis C.; Arndt, Volker; Bermisheva, Marina; Bogdanova, Natalia V.; Bolla, Manjeet K.; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Dunning, Alison M.; Fasching, Peter A.; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G.; Haeberle, Lothar; Hall, Per; Hillemanns, Peter; Hopper, John L.; Jakubowska, Anna; John, Esther M.; Jones, Michael; Khusnutdinova, Elza; Knight, Julia A.; Kosma, Veli-Matti; Kristensen, Vessela; Lee, Andrew; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Meindl, Alfons; Milne, Roger L.; Muranen, Taru A.; Newcomb, Polly A.; Offit, Kenneth; Park-Simon, Tjoung-Won; Peto, Julian; Pharoah, Paul D.P.; Robson, Mark; Rudolph, Anja; Sawyer, Elinor J.; Schmutzler, Rita K.; Seynaeve, Caroline; Soens, Julie; Southey, Melissa C.; Spurdle, Amanda B.; Surowy, Harald; Swerdlow, Anthony; Tollenaar, Rob A.E.M.; Tomlinson, Ian; Trentham-Dietz, Amy; Vachon, Celine; Wang, Qin; Whittemore, Alice S.; Ziogas, Argyrios; van der Kolk, Lizet; Nevanlinna, Heli; Dörk, Thilo; Bojesen, Stig; Easton, Douglas F.

    2016-01-01

    Purpose CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. Patients and Methods CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies. Results Proportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center–based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10−20). The OR was higher for estrogen receptor (ER)–positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10−21]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10−4). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. Conclusion These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up. PMID:27269948

  7. High Incidence of ACE/PAI-1 in Association to a Spectrum of Other Polymorphic Cardiovascular Genes Involving PBMCs Proinflammatory Cytokines in Hypertensive Hypercholesterolemic Patients: Reversibility with a Combination of ACE Inhibitor and Statin.

    PubMed

    AlBacha, Jeanne d'Arc; Khoury, Mira; Mouawad, Charbel; Haddad, Katia; Hamoui, Samar; Azar, Albert; Fajloun, Ziad; Makdissy, Nehman

    2015-01-01

    Cardiovascular diseases (CVDs) are significantly high in the Lebanese population with the two most predominant forms being atherosclerosis and venous thrombosis. The purpose of our study was to assess the association of a spectrum of CVD related genes and combined state of hypertension hypercholesterolemia (HH) in unrelated Lebanese. Twelve polymorphisms were studied by multiplex PCR and reverse hybridization of DNA from 171 healthy individuals and 144 HH subjects. Two genes were significantly associated with HH: ACE (OR: 9.20, P<0.0001) and PAI-1 (OR: 2.29, P = 0.007), respectively with the occurrence of the risky alleles "Del" and "4G". The frequencies of the Del and 4G alleles were found to be 0.98 and 0.90 in the HH group versus 0.84 and 0.79 in the healthy group, respectively. Serum ACE activity and PAI-I increased significantly with Del/Del and 4G/5G genotypes. The co-expression of Del/4G(+/+) was detected in 113 out of 171 (66.0%) controls and 125 out of 144 (86.8%) HH subjects. Del/4G(-/-) was detected in only 6 (3.5%) controls and undetected in the HH group. Three venous thrombosis related genes [FV(Leiden), MTHFR(A1298C) and FXIII(V34L)] were significantly related to the prominence of the co-expression of Del/4G(+/+). A range of 2 to 8 combined polymorphisms co-expressed per subject where 5 mutations were the most detected. In Del/4G(+/+) subjects, peripheral blood mononuclear cells (PBMCs) produced significant elevated levels of IFN-γ and TNF-α contrary to IL-10, and no variations occurred for IL-4. ACE inhibitor (ramipril) in combination with statin (atorvastatin) and not alone reversed significantly the situation. This first report from Lebanon sheds light on an additional genetic predisposition of a complex spectrum of genes involved in CVD and suggests that the most requested gene FVL by physicians may not be sufficient to diagnose eventual future problems that can occur in the cardiovascular system. Subjects expressing the double mutations (Del/4G) are at high risk for the onset of CVDs.

  8. Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.

    PubMed

    Schmidt, Marjanka K; Hogervorst, Frans; van Hien, Richard; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel A; Meijers, Hanne; Waisfisz, Quinten; Hollestelle, Antoinette; Schutte, Mieke; van den Ouweland, Ans; Hooning, Maartje; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Antoniou, Antonis C; Arndt, Volker; Bermisheva, Marina; Bogdanova, Natalia V; Bolla, Manjeet K; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Dunning, Alison M; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G; Haeberle, Lothar; Hall, Per; Hillemanns, Peter; Hopper, John L; Jakubowska, Anna; John, Esther M; Jones, Michael; Khusnutdinova, Elza; Knight, Julia A; Kosma, Veli-Matti; Kristensen, Vessela; Lee, Andrew; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Meindl, Alfons; Milne, Roger L; Muranen, Taru A; Newcomb, Polly A; Offit, Kenneth; Park-Simon, Tjoung-Won; Peto, Julian; Pharoah, Paul D P; Robson, Mark; Rudolph, Anja; Sawyer, Elinor J; Schmutzler, Rita K; Seynaeve, Caroline; Soens, Julie; Southey, Melissa C; Spurdle, Amanda B; Surowy, Harald; Swerdlow, Anthony; Tollenaar, Rob A E M; Tomlinson, Ian; Trentham-Dietz, Amy; Vachon, Celine; Wang, Qin; Whittemore, Alice S; Ziogas, Argyrios; van der Kolk, Lizet; Nevanlinna, Heli; Dörk, Thilo; Bojesen, Stig; Easton, Douglas F

    2016-08-10

    CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies. Proportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10(-20)). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10(-21)]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10(-4)). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up. © 2016 by American Society of Clinical Oncology.

  9. PubMed

    Bueno Vargas, Pilar; Manzano Martín, Manuel; López-Aliaga, Inmaculada; López Pedrosa, José M ª

    2016-09-20

    Introducción: la gestación y lactancia están relacionadas con pérdidas temporales en la densidad mineral ósea (DMO) materna. Una suplementación con calcio podría resultar beneficiosa para evitar la pérdida de masa ósea del esqueleto materno. Otros nutrientes como los prebióticos han sido identificados como responsables de un incremento en la absorción de minerales, pudiendo condicionar la mineralización ósea.Objetivo: estudiar el efecto de la suplementación de la dieta materna con el prebiótico inulina enriquecida con oligofructosa, durante la gestación y la lactancia sobre el contenido mineral óseo (CMO) y la DMO al final del periodo de lactancia.Métodos: las ratas gestantes fueron alimentadas con dieta estándar (grupo CC), dieta fortificada en calcio (grupo Ca) o enriquecida con el prebiótico inulina enriquecida con oligofructosa (grupo Pre) hasta el final del periodo de lactancia. Posteriormente se evaluó el CMO y DMO por absorciometría de rayos X (DEXA) y el pH del contenido cecal.Resultados:en términos generales, el grupo Pre presenta los mayores valores absolutos de CMO y DMO de entre los tres grupos, siendo en la tibia significativamente diferentes en los grupos CC y Pre frente al grupo Ca. El pH del contenido cecal del grupo Pre es significativamente inferior al de los grupos CC y Ca.Conclusión:la suplementación con inulina enriquecida con oligofructosa, en condiciones nutricionales no deficientes en calcio, durante la gestación y la lactancia, ejerce una protección del esqueleto materno en las ratas y puede ser considerada como una estrategia nutricional para proteger la masa ósea materna en el periodo perinatal.

  10. Tratamiento Quirúrgico de los Meningiomas del Foramen Óptico, Técnicay Resultados de una Serie de 18 Pacientes

    PubMed Central

    Goldschmidt, Ezequiel; Ajler, Pablo; Campero, Álvaro; Landriel, Federico; Sposito, Maximiliano; Carrizo, Antonio

    2014-01-01

    Introducción: los meningiomas del foramen óptico producen un rápido deterioro de la función visual aún cuando su tamaño es pequeño, por eso su diagnóstico y manejo difiere del resto de los meningiomas clinoideos. El propósito de este estudio es presentar la técnica y los resultados de nuestro manejo quirúrgico de meningiomas foraminales (MF). Pacientes y Métodos: se llevó a cabo una revisión de las historias clínicas de 47 pacientes con meningiomas primarios intraorbitarios. Se realizaron 52 cirugías en los pacientes con MF. Se empleó una craneotomía fronto-orbitaria, seguida de una descompresión extradural del canal óptico, resección del componente intraorbitario y exploración intradural del nervio óptico. Resultados: de los 12 pacientes con MF que presentaban la visión conservada, la agudeza visual fue preservada en 7 casos, mejoró en 2, y empeoró en 3. En 18 pacientes, el principal síntoma fue exoftalmos y en 35 pacientes ceguera unilateral. Ocurrieron 6 recurrencias, 2 a 10 años después de la resección quirúrgica. Cinco de ellos fueron reoperados. Se indicó radioterapia después de la recurrencia en 3 pacientes. Conclusión: el manejo de los MF continúa siendo controvertido y frecuentemente se propone un tratamiento conservador. Basados en nuestros hallazgos de frecuente extensión intracraneal, proponemos realizar una resección total o subtotal del tumor, preservando el nervio óptico en pacientes con visión prequirúrgica conservada. PMID:25165616

  11. Functional characterization of a basic helix-loop-helix (bHLH) transcription factor GhDEL65 from cotton (Gossypium hirsutum).

    PubMed

    Shangguan, Xiao-Xia; Yang, Chang-Qing; Zhang, Xiu-Fang; Wang, Ling-Jian

    2016-10-01

    Cotton fiber is proposed to share some similarity with the Arabidopsis thaliana leaf trichome, which is regulated by the MYB-bHLH-WD40 transcription complex. Although several MYB transcription factors and WD40 family proteins in cotton have been characterized, little is known about the role of bHLH family proteins in cotton. Here, we report that GhDEL65, a bHLH protein from cotton (Gossypium hirsutum), is a functional homologue of Arabidopsis GLABRA3 (GL3) and ENHANCER OF GLABRA3 (EGL3) in regulating trichome development. Transcripts of GhDEL65 were detected in 0 ∼ 1 days post-anthesis (DPA) ovules and abundant in 3-DPA fibers, implying that GhDEL65 may act in early fiber development. Ectopic expression of GhDEL65 in Arabidopsis gl3 egl3 double mutant partly rescued the trichome development, and constitutive expression of GhDEL65 in wild-type plants led to increased trichome density on rosette leaves and stems, mainly by activating the transcription of two key positive regulators of trichome development, GLABRA1 (GL1) and GLABRA2 (GL2), and suppressed the expression of a R3 single-repeat MYB factor TRIPTYCHON (TRY). GhDEL65 could interact with cotton R2R3 MYB transcription factors GhMYB2 and GhMYB3, as well as the WD40 protein GhTTG3, suggesting that the MYB-bHLH-WD40 protein complex also exists in cotton fiber cell, though its function in cotton fiber development awaits further investigation. © 2016 Scandinavian Plant Physiology Society.

  12. Comparison of therapeutic effects of EGFR-tyrosine kinase inhibitors on 19Del and L858R mutations in advanced lung adenocarcinoma and effect on cellular immune function.

    PubMed

    Zhou, Juan; Ben, Suqin

    2018-02-01

    We compared the therapeutic effect of EGFR-tyrosine kinase inhibitors (TKIs) on 19Del and L858R mutations in advanced lung adenocarcinoma on cellular immune function and explored the factors influencing the curative effect and prognosis. Clinical efficacy in the selected 71 patients with lung adenocarcinoma, including 52 patients with 19Del and L858R mutations and 19 wild type patients treated with EGFR-TKIs was retrospectively analyzed. The response rate (RR), disease control rate (DCR), progression-free survival (PFS), overall survival (OS), and cellular immune function were analyzed. The RR, DCR, PFS, and OS of the 19Del group were higher than those of the L858R group; however, there were no statistically significant differences between the groups. χ 2 test results revealed that gender, smoking, and EGFR mutations were associated with DCR. Log-rank analytical results showed that EGFR mutation type was correlated to PFS and OS. Multivariate analysis implied that disease control and mutation type of EGFR were independent prognostic factors of OS. Following TKI treatment, the number of CD3+, CD4+, and NK cells and the CD4+/CD8+ratio increased in both mutation groups; however the results were not statistically significant. There was also no significant difference in the upregulation of immunological function observed, with 46.43% in the 19Del mutation and 45.83% in the L858R mutation group. EGFR 19Del and L858R mutations are good biomarkers for predicting the clinical response of EGFR-TKIs. 19Del mutations may have a better clinical outcome. © 2017 The Authors. Thoracic Cancer published by China Lung Oncology Group and John Wiley & Sons Australia, Ltd.

  13. Teorí­as de primer y segundo orden sobre el potencial de ciertas figuras de equilibrio de cuerpos celestes

    NASA Astrophysics Data System (ADS)

    Gumbau, Manuel Forner

    2010-11-01

    Uno de los problemas que aborda la Mecánica Celeste es la determinación de las figuras de equilibrio de los cuerpos celestes. Para investigar su solución mediante métodos directos, se precisa evaluar el potencial generado por su autogravitación, el generado por su fuerza centrí­fuga y el generado por la fuerza de atracción entre los cuerpos. Los métodos clásicos de Finlay y Kopal que afrontan estos problemas, para determinar el potencial autogravitatorio en las configuraciones de equilibrio, emplean desarrollos en serie de los potenciales interior y exterior del potencial autogravitatorio. Estos métodos incurren en el error de suponer la convergencia en capas donde resulta cuestionable dicha convergencia para estos desarrollos en serie. En este trabajo se han elaborado unos algoritmos que contemplan toda la casuí&stica y que permiten una manipulación efic iente del producto de polinomios de Legendre, del producto de funciones asociada s de Legendre y del producto de armónicos esféricos como combinacióon lineal de ellos mismos, respectivamente. Se han obtenido, para primer y segundo orden en las amplitudes, los desarrollos correctos para los potencial es interior y exterior del potencial autogravitatorio para configuraciones de equilibrio aisladas, y , en primer orden de amplitudes, los mismos potenciales para los sistemas binarios próximos. Se ha elaborado un método analítico, en primer orden respecto de las amplitudes, para la determinación del potencial de marea en sistemas binarios próximos en el cual se manifiesta la forma de la componente secundaria del sistema

  14. Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

    PubMed Central

    Laitman, Yael; Feng, Bing-Jian; Zamir, Itay M; Weitzel, Jeffrey N; Duncan, Paul; Port, Danielle; Thirthagiri, Eswary; Teo, Soo-Hwang; Evans, Gareth; Latif, Ayse; Newman, William G; Gershoni-Baruch, Ruth; Zidan, Jamal; Shimon-Paluch, Shani; Goldgar, David; Friedman, Eitan

    2013-01-01

    The 185delAG* BRCA1 mutation is encountered primarily in Jewish Ashkenazi and Iraqi individuals, and sporadically in non-Jews. Previous studies estimated that this is a founder mutation in Jewish mutation carriers that arose before the dispersion of Jews in the Diaspora ∼2500 years ago. The aim of this study was to assess the haplotype in ethnically diverse 185delAG* BRCA1 mutation carriers, and to estimate the age at which the mutation arose. Ethnically diverse Jewish and non-Jewish 185delAG*BRCA1 mutation carriers and their relatives were genotyped using 15 microsatellite markers and three SNPs spanning 12.5 MB, encompassing the BRCA1 gene locus. Estimation of mutation age was based on a subset of 11 markers spanning a region of ∼5 MB, using a previously developed algorithm applying the maximum likelihood method. Overall, 188 participants (154 carriers and 34 noncarriers) from 115 families were included: Ashkenazi, Iraq, Kuchin-Indians, Syria, Turkey, Iran, Tunisia, Bulgaria, non-Jewish English, non-Jewish Malaysian, and Hispanics. Haplotype analysis indicated that the 185delAG mutation arose 750–1500 years ago. In Ashkenazim, it is a founder mutation that arose 61 generations ago, and with a small group of founder mutations was introduced into the Hispanic population (conversos) ∼650 years ago, and into the Iraqi–Jewish community ∼450 years ago. The 185delAG mutation in the non-Jewish populations in Malaysia and the UK arose at least twice independently. We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews. PMID:22763381

  15. Small heat shock proteins target mutant cystic fibrosis transmembrane conductance regulator for degradation via a small ubiquitin-like modifier–dependent pathway

    PubMed Central

    Ahner, Annette; Gong, Xiaoyan; Schmidt, Bela Z.; Peters, Kathryn W.; Rabeh, Wael M.; Thibodeau, Patrick H.; Lukacs, Gergely L.; Frizzell, Raymond A.

    2013-01-01

    Small heat shock proteins (sHsps) bind destabilized proteins during cell stress and disease, but their physiological functions are less clear. We evaluated the impact of Hsp27, an sHsp expressed in airway epithelial cells, on the common protein misfolding mutant that is responsible for most cystic fibrosis. F508del cystic fibrosis transmembrane conductance regulator (CFTR), a well-studied protein that is subject to cytosolic quality control, selectively associated with Hsp27, whose overexpression preferentially targeted mutant CFTR to proteasomal degradation. Hsp27 interacted physically with Ubc9, the small ubiquitin-like modifier (SUMO) E2 conjugating enzyme, implying that F508del SUMOylation leads to its sHsp-mediated degradation. Enhancing or disabling the SUMO pathway increased or blocked Hsp27’s ability to degrade mutant CFTR. Hsp27 promoted selective SUMOylation of F508del NBD1 in vitro and of full-length F508del CFTR in vivo, which preferred endogenous SUMO-2/3 paralogues that form poly-chains. The SUMO-targeted ubiquitin ligase (STUbL) RNF4 recognizes poly-SUMO chains to facilitate nuclear protein degradation. RNF4 overexpression elicited F508del degradation, whereas Hsp27 knockdown blocked RNF4’s impact on mutant CFTR. Similarly, the ability of Hsp27 to degrade F508del CFTR was lost during overexpression of dominant-negative RNF4. These findings link sHsp-mediated F508del CFTR degradation to its SUMOylation and to STUbL-mediated targeting to the ubiquitin–proteasome system and thereby implicate this pathway in the disposal of an integral membrane protein. PMID:23155000

  16. Mini-mastoidectomía para anastomosis hipogloso-facial con sección parcial del nervio hipogloso

    PubMed Central

    Campero, Álvaro; Ajler, Pablo; Socolovsky, Mariano; Martins, Carolina; Rhoton, Albert

    2012-01-01

    Introducción: La anastomosis hipogloso-facial es la técnica de elección para la reparación de la parálisis facial cuando no se dispone de un cabo proximal sano del nervio facial. La técnica de anastomosis mediante fresado mastoideo y sección parcial del hipogloso minimiza la atrofia lingual sin sacrificar resultados a nivel facial. Método: La porción mastoidea del nervio facial transcurre por la pared anterior de la AM, a un promedio de 18+/-3 mm de profundidad respecto de la pared lateral. Se debe reconocer la cresta supramastoidea, desde la cual se marca una línea vertical paralela al eje mayor de la AM, 1 cm por detrás de la pared posterior del CAE El fresado se comienza desde la línea medio mastoidea hasta la pared posterior del CAE. Una vez encontrado el nervio facial en el tercio medio del canal mastoideo, el mismo es seguido hacia proximal y distal. Resultados: El abordaje descripto permite acceder al nervio facial intratemporal en su porción mastoidea, y efectuar un fresado óseo sin poner en riesgo al nervio o a estructuras vasculares cercanas. Se trata de un procedimiento técnicamente más sencillo que los abordajes amplios habitualmente utilizados al hueso temporal; no obstante su uso debe ser restringido mayormente a la anastomosis hipogloso-facial. Conclusión: Esta es una técnica relativamente sencilla, que puede ser reproducida por cirujanos sin mayor experiencia en el tema, luego de su paso por el laboratorio de anatomía. PMID:23596555

  17. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.

    PubMed

    Steffen, Jan; Varon, Raymonda; Mosor, Maria; Maneva, Galina; Maurer, Martin; Stumm, Markus; Nowakowska, Dorota; Rubach, Maryna; Kosakowska, Ewa; Ruka, Włodzimierz; Nowecki, Zbigniew; Rutkowski, Piotr; Demkow, Tomasz; Sadowska, Małgorzata; Bidziński, Mariusz; Gawrychowski, Krzysztof; Sperling, Karl

    2004-08-10

    It has been suggested based on familial data that Nijmegen breakage syndrome (NBS) heterozygotes have an increased risk of malignant tumors. We found 15 carriers of the 657del5 mutation and 8 carriers of the R215W molecular variant of the NBS1 gene among 1,289 consecutive patients from Central Poland with various cancers and only 10 and 4 such carriers, respectively, in 1,620 controls from this region. Most of the 657del5 mutation carriers were found among patients with melanoma (4/105), non-Hodgkin lymphoma (2/42) and breast cancer (4/224) and of the 234 patients with colorectal carcinoma 3 carried the 657del5 mutation and 3 others the R215W molecular variant. The frequencies of 657del5 mutation carriers among patients with melanoma and non-Hodgkin lymphoma and of R215W carriers in patients with colorectal cancer were significantly higher than in controls (p < 0.01, < 0.05 and < 0.05 respectively). The pooled frequencies of 657del5 and R215W mutations in all cancer patients were also significantly higher than in controls (p < 0.05). Two carriers of the 657del5 mutation had second primary tumors. Malignant tumors among parents and siblings of 657del5 mutation carriers (14/77) were twice more frequent than in population controls. Three carriers of this mutation (2 probands with melanoma) reported melanoma in relatives. These results suggest strongly that NBS1 heterozygosity may be associated with elevated risk of some cancers. Larger studies are needed to evaluate the impact of the high frequency of germline NBS1 mutations on the cancer burden in the Slav populations. Copyright 2004 Wiley-Liss, Inc.

  18. The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.

    PubMed

    Dorobek, Małgorzata; Ryniewicz, Barbara; Kabzińska, Dagmara; Fidziańska, Anna; Styczyńska, Maria; Hausmanowa-Petrusewicz, Irena

    2015-11-01

    Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD. The c.550delA mutation in the CANP3 (calcium activated neutral protease 3) gene is the most commonly reported mutation in LGMD2A. Prevalence of this mutation in the Polish population has not been previously investigated. The aim of this study was to identify and estimate the frequency of the c.550delA mutation in Polish LGMD2A patients. Polymerase chain reaction-sequencing analysis, restriction fragment length polymorphism polymerase chain reaction method. We analyzed 76 families affected with LGMD and identified 62 probands with mutations in the CANP3 gene. C.550delA was the most common mutation identified, being found in 78% of the LGMD2A families. The remaining mutations observed multiple times were as follows: c.598-612del15ntd; c.2242C>T; c.418dupC; c.1356insT, listed in terms of decreasing frequency. Two novel variants in the CANP3 gene, that is, c.700G>A Gly234Arg and c.661G>A Gly221Ser were also characterized. Overall, mutations in the LGMD2A gene were estimated to be present in 81% of patients with the LGMD phenotype who were without sarcoglycans and dysferlin deficiency on immunocytochemical analysis. The frequency of the heterozygous c.550delA mutation in the healthy Polish population was estimated at 1/124. The c.550delA is the most frequent CANP3 mutation in the Polish population, thus sequencing of exon 4 of this gene could identify the majority of LGMD2A patients in Poland.

  19. A Common Mutation in DEFB126 Causes Impaired Sperm Function and Subfertility

    PubMed Central

    Tollner, Theodore L.; Venners, Scott A.; Hollox, Edward J.; Yudin, Ashley I.; Liu, Xue; Tang, Genfu; Xing, Houxun; Kays, Robert J.; Lau, Tsang; Overstreet, James W.; Xu, Xiping; Bevins, Charles L.; Cherr, Gary N.

    2013-01-01

    A glycosylated polypeptide, β-defensin 126 (DEFB126), derived from the epididymis and adsorbed onto the sperm surface, has been implicated in immunoprotection and efficient movement of sperm in mucosal fluids of the female reproductive tract. Here, we report a sequence variant in DEFB126 that has a 2-nucleotide deletion in the open reading frame, which generates a non-stop mRNA. The allele frequency of this variant sequence is high in both a European (0.47) and a Chinese (0.45) population cohort. Binding of the Agaricus bisporus lectin to the sperm surface glycocalyx was significantly lower in men with the homozygous variant (del/del) genotype than in those with either a del/wt or wt/wt genotype, suggesting an altered sperm glycocalyx with fewer O-linked oligosaccharides in del/del men. Moreover, sperm from the del/del donors exhibited an 84% reduction in the rate of penetration of a hyaluronic acid (HA) gel, a surrogate for cervical mucus, compared to the other genotypes. This reduction in sperm performance in HA gels was not a result of decreased progressive motility (average curvilinear velocity) or morphological deficits. However, DEFB126 genotype and lectin binding were highly correlated with performance in the penetration assays. In a prospective cohort study of newly married couples who were trying to conceive by natural means, couples were less likely to become pregnant and took longer to achieve a live birth if the male partner was homozygous for the variant sequence. This common sequence variation in DEFB126, and its apparent cause of impaired reproductive function, provides an opportunity to better understand, clinically evaluate, and possibly treat human infertility. PMID:21775668

  20. Field measurements of del13C in ecosystem respiration

    NASA Astrophysics Data System (ADS)

    van Asperen, Hella; Sabbatini, Simone; Nicolini, Giacomo; Warneke, Thorsten; Papale, Dario; Notholt, Justus

    2014-05-01

    Stable carbon isotope del13C-measurements are extensively used to study ecological and biogeochemical processes in ecosystems. Above terrestrial ecosystems, atmospheric del13C can vary largely due to photosynthetic fractionation. Photosynthetic processes prefer the uptake of the lighter isotope 12C (in CO2), thereby enriching the atmosphere in 13C and depleting the ecosystem carbon. At night, when ecosystem respiratory fluxes are dominant, 13C-depleted CO2 is respired and thereby depletes the atmospheric del13C-content. Different ecosystems and different parts of one ecosystem (type of plant, leaves, and roots) fractionate and respire with a different del13C-ratio signature. By determining the del13C-signature of ecosystem respiration in temporal and spatial scale, an analysis can be made of the composition of respiratory sources of the ecosystem. A field study at a dry cropland after harvest (province of Viterbo, Lazio, Italy) was performed in the summer of 2013. A FTIR (Fourier Transform Infrared Spectrometer) was set up to continuously measure CO2-, CH4-, N2O-, CO- and del13C-concentrations. The FTIR was connected to 2 different flux measurements systems: a Flux Gradient system (sampling every half hour at 1.3m and 4.2m) and 2 flux chambers (measured every hour), providing a continuous data set of the biosphere-atmosphere gas fluxes and of the gas concentrations at different heights. Keeling plot intercept values of respiratory CO2, measured by the Flux Gradient system at night, were determined to be between -25‰ and -20‰. Keeling plot intercept values of respiratory CO2, measured by the flux chamber system, varied between -24‰ and -29‰, and showed a clear diurnal pattern, suggesting different (dominant) respiratory processes between day and night.

  1. Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis.

    PubMed

    Coutinho, Cyntia Arivabeni de Araújo Correia; Marson, Fernando Augusto de Lima; Ribeiro, Antônio Fernando; Ribeiro, José Dirceu; Bertuzzo, Carmen Silvia

    2013-01-01

    To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were female, and 94.29% were White. Mutation screening was performed with polymerase chain reaction (for F508del), followed by enzymatic digestion (for other mutations). Clinical analysis was performed on the basis of gender, age, ethnicity, pulmonary/gastrointestinal symptoms, and Shwachman-Kulczycki (SK) score. All of the patients showed pulmonary symptoms, and 8 had no gastrointestinal symptoms. On the basis of the SK scores, CF was determined to be mild, moderate, and severe in 22 (42.3%), 17 (32.7%), and 13 (25.0%) of the patients, respectively. There was no association between F508del mutation and disease severity by SK score. Of the 140 alleles analyzed, F508del mutation was identified in 70 (50%). Other mutations (G542X, G551D, R553X, R1162X, and N1303K) were identified in 12 (7.93%) of the alleles studied. In F508del homozygous patients with severe disease, the OR was 0.124 (95% CI: 0.005-0.826). In 50% of the alleles studied, the molecular diagnosis of CF was confirmed by identifying a single mutation (F508del). If we consider the analysis of the six most common mutations in the Brazilian population (including F508del), the molecular diagnosis was confirmed in 58.57% of the alleles studied.

  2. The CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population.

    PubMed

    Marouf, Chaymaa; Hajji, Omar; Diakité, Brehima; Tazzite, Amal; Jouhadi, Hassan; Benider, Abdellatif; Nadifi, Sellama

    2015-01-01

    The cell-cycle checkpoint kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects has been associated with increased risk for breast cancer. The CHEK2 1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been described in Northern and Eastern European countries. However, the 1100delC mutation has been investigated in different case-control studies and none in Moroccan population. The aim of this study was to evaluate the prevalence of this variant and determine its contribution to the development of breast cancer in sporadic cases and also in members of breast cancer families who tested negative or positive for a deleterious mutation in BRCA1/BRCA2. In this case-control study we performed the CHEK2 1100delC mutation analysis by ASO-PCR in 134 breast cancer patients and 114 unaffected control individuals. Most of these families had several cases of breast cancer or ovarian cancer (or both). No CHEK2 1100delC mutations were detected in any of 134 individuals, including 59 women diagnosed with breast cancer at an early age (<40 years), 10 women with bilateral breast cancer, and 6 women with ovarian cancer. Our preliminary genetic analysis are consistent with the reported very low frequency of CHEK2 1100delC mutation in North American populations (compared with Northern Europe), rendering CHEK2 1100delC such as an unlikely to be major breast cancer susceptibility genes.

  3. Gödel metrics with chronology protection in Horndeski gravities

    NASA Astrophysics Data System (ADS)

    Geng, Wei-Jian; Li, Shou-Long; Lü, H.; Wei, Hao

    2018-05-01

    Gödel universe, one of the most interesting exact solutions predicted by General Relativity, describes a homogeneous rotating universe containing naked closed time-like curves (CTCs). It was shown that such CTCs are the consequence of the null energy condition in General Relativity. In this paper, we show that the Gödel-type metrics with chronology protection can emerge in Einstein-Horndeski gravity. We construct such exact solutions also in Einstein-Horndeski-Maxwell and Einstein-Horndeski-Proca theories.

  4. Honduran-U.S. Relations

    DTIC Science & Technology

    2009-08-04

    Miami Herald, July 16, 2009; “Informe Preliminar: Violaciones a Derechos Humanos en el Marco del Golpe de Estado en Honduras,” Comité de Familiares de...Detenidos Desaparecidos en Honduras (CONFADEH), July 15, 2009; “Reporte de Violaciones a Derechos Humanos Después del Golpe de Estado Político-Militar...del 28 de Junio de 2009,” Centro de Investigacion y Promocion de los Derechos Humanos (CIPRODEH), July 17, 2009. 31 For more on the U.S. response

  5. Analysis of Space Station Operations in the Space Debris Environment.

    DTIC Science & Technology

    1984-12-01

    o, a Itmd, a Ithi , umco, s atpop, s tplo, a atpm d , aatphi , + expobj,dlo,dmd,dhi,nexplo,nexpuid,nexphi, colide , + objlo,objmd,objhi,cobjlo,cobjmd...tisoic, tiioc,flumco, + soivsl,soivsm, soivsh,numrun double precision c, colide ,rholo,rhomd, rhoh. equivalence(nset(l ),qset(l)) net-7 5000 ncrdr-5...del tlo,del tmd,del thi, + *1 tlo,altad,althi ,numco,satpop,satplo,aatpmd,satphi, + expobj,dlo,dad,dhi,nexplo,nexpudnexphi, colide , + objlo

  6. Riego y fertirriego

    Treesearch

    R. Kasten Dumroese; Thomas D. Landis; Kim M. Wilkinson

    2012-01-01

    El agua es el factor que más puede afectar el crecimiento y la sanidad de las plantas por sí solo. Es esencial para casi todos los procesos vegetales: la fotosíntesis, el transporte de nutrientes, el crecimiento y el desarrollo celular. De hecho, del 80 al 90% del peso de un plantín es agua, por lo cual el manejo del riego es una de las tareas más trascendentes dentro...

  7. Multiplex pyrosequencing of InDel markers for forensic DNA analysis.

    PubMed

    Bus, Magdalena M; Karas, Ognjen; Allen, Marie

    2016-12-01

    The capillary electrophoresis (CE) technology is commonly used for fragment length separation of markers in forensic DNA analysis. In this study, pyrosequencing technology was used as an alternative and rapid tool for the analysis of biallelic InDel (insertion/deletion) markers for individual identification. The DNA typing is based on a subset of the InDel markers that are included in the Investigator ® DIPplex Kit, which are sequenced in a multiplex pyrosequencing analysis. To facilitate the analysis of degraded DNA, the polymerase chain reaction (PCR) fragments were kept short in the primer design. Samples from individuals of Swedish origin were genotyped using the pyrosequencing strategy and analysis of the Investigator ® DIPplex markers with CE. A comparison between the pyrosequencing and CE data revealed concordant results demonstrating a robust and correct genotyping by pyrosequencing. Using optimal marker combination and a directed dispensation strategy, five markers could be multiplexed and analyzed simultaneously. In this proof-of-principle study, we demonstrate that multiplex InDel pyrosequencing analysis is possible. However, further studies on degraded samples, lower DNA quantities, and mixtures will be required to fully optimize InDel analysis by pyrosequencing for forensic applications. Overall, although CE analysis is implemented in most forensic laboratories, multiplex InDel pyrosequencing offers a cost-effective alternative for some applications. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  8. Highly preferential association of NonF508del CF mutations with the M470 allele.

    PubMed

    Ciminelli, B M; Bonizzato, A; Bombieri, C; Pompei, F; Gabaldo, M; Ciccacci, C; Begnini, A; Holubova, A; Zorzi, P; Piskackova, T; Macek, M; Castellani, C; Modiano, G; Pignatti, P F

    2007-01-01

    On the basis of previous findings on random individuals, we hypothesized a preferential association of CF causing mutations with the M allele of the M470V polymorphic site of the CFTR gene. We have determined the M/V-CF mutation haplotype in a series of 201 North East Italian and 73 Czech CF patients who were not F508del homozygotes, as F508del was already known to be fully associated with the M allele. Out of 358 not F508del CF genes, 84 carried the V allele and 274 the less common M allele. In the N-E Italian population, MM subjects have a risk of carrying a CF causing mutation 6.9x greater than VV subjects when F508del is excluded and 15.4x when F508del is included. In the Czech population a similar, although less pronounced, association is observed. Besides the possible biological significance of this association, the possibility of exploiting it for a pilot screening program has been explored in a local North East Italian population for which CF patients were characterized for their CF mutation. General M470V genotyping followed by common CF mutation screening limited to couples in which each partner carries at least one M allele would need testing only 39% of the couples, which contribute 89% of the total risk, with a cost benefit.

  9. Development and validation of a SYBR Green I-based real-time polymerase chain reaction method for detection of haptoglobin gene deletion in clinical materials.

    PubMed

    Soejima, Mikiko; Tsuchiya, Yuji; Egashira, Kouichi; Kawano, Hiroyuki; Sagawa, Kimitaka; Koda, Yoshiro

    2010-06-01

    Anhaptoglobinemic patients run the risk of severe anaphylactic transfusion reaction because they produce serum haptoglobin (Hp) antibodies. Being homozygous for the Hp gene deletion (HP(del)) is the only known cause of congenital anhaptoglobinemia, and clinical diagnosis of HP(del) before transfusion is important to prevent anaphylactic shock. We recently developed a 5'-nuclease (TaqMan) real-time polymerase chain reaction (PCR) method. A SYBR Green I-based duplex real-time PCR assay using two forward primers and a common reverse primer followed by melting curve analysis was developed to determine HP(del) zygosity in a single tube. In addition, to obviate initial DNA extraction, we examined serially diluted blood samples as PCR templates. Allelic discrimination of HP(del) yielded optimal results at blood sample dilutions of 1:64 to 1:1024. The results from 2231 blood samples were fully concordant with those obtained by the TaqMan-based real-time PCR method. The detection rate of the HP(del) allele by the SYBR Green I-based method is comparable with that using the TaqMan-based method. This method is readily applicable due to its low initial cost and analyzability using economical real-time PCR machines and is suitable for high-throughput analysis as an alternative method for allelic discrimination of HP(del).

  10. Pier Diego Siccardi (1880-1917) and the "Clinica del Lavoro" in the trench warfare.

    PubMed

    Riva, Michele Augusto; Caramella, Michela; Turato, Massimo; Cesana, Giancarlo

    2017-12-14

    The year 2017 marks the centenary of the death of the Italian scientist Pier Diego Siccardi (1880-1917), one of Luigi Devoto's assistants at the "Clinica del Lavoro" in Milan. To commemorate Siccardi and to describe the activities of the physicians of the "Clinica del Lavoro" during World War I. A comprehensive analysis was conducted on scientific papers written by Pier Diego Siccardi and by other physicians belonging to the Clinica del Lavoro, in the period 1915-1918. During the Great War, the Clinica del Lavoro became a military hospital, even though it indirectly maintained a role in Occupational Health, assisting women who had started to work to replace the men sent to the front. Devoto and his assistants were drafted as Army doctors, but continued their research activities while at the front; focusing on the diseases that affected the soldiers, mainly infections. Bleeding fevers and jaundice were endemic among Italian troops, but their etiology was unknown. Pier Diego Siccardi identified this syndrome as an infection caused by a spirochete, and was the first one to isolate the infectious agent. Siccardi prematurely died of the same disease as a consequence of a laboratory accident, which provided further confirmation for his research. The heroic life of Siccardi and his tragic death testify the important activities of the scientists of the "Clinica del Lavoro" in the years of the Great War.

  11. Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.

    PubMed

    Liang, Mingming; Zhang, Yun; Sun, Chenyu; Rizeq, Feras Kamel; Min, Min; Shi, Tingting; Sun, Yehuan

    2018-06-16

    The association between the checkpoint kinase 2*1100delC (CHEK2*1100delC) and breast cancer has been extensively explored. In light of the recent publication of studies on these specific findings, particularly regarding male patients with breast cancer, we performed an updated meta-analysis to investigate a more reliable estimate. This meta-analysis included 26 published studies selected in a search of electronic databases up to January 2018, including 118,735 breast cancer cases and 195,807 controls. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the association between 1100delC and breast cancer. Meta-analysis results suggested that 1100delC contributed to an increased breast cancer risk in overall populations (OR 2.89; 95% CI 2.63-3.16). Subgroup analysis found ORs of 3.13 (95% CI 1.94-5.07) for male breast cancer, 2.88 (95% CI 2.63-3.16) for female breast cancer, 2.87 (95% CI 1.85-4.47) for early-onset breast cancer, 2.92 (95% CI 2.65-3.22) for invasive breast cancer, and 3.21 (95% CI 2.41-4.29) for familial breast cancer. The sensitivity analysis suggested that results of this meta-analysis were generally robust. CHEK2*1100delC is associated with an increased risk of both female and male breast cancer.

  12. The basement of the Punta del Este Terrane (Uruguay): an African Mesoproterozoic fragment at the eastern border of the South American Río de La Plata craton

    NASA Astrophysics Data System (ADS)

    Basei, Miguel A. S.; Peel, Elena; Sánchez Bettucci, Leda; Preciozzi, Fernando; Nutman, Allen P.

    2011-04-01

    The Punta del Este Terrane (eastern Uruguay) lies in a complex Neoproterozoic (Brasiliano/Pan-African) orogenic zone considered to contain a suture between South American terranes to the west of Major Gercino-Sierra Ballena Suture Zone and eastern African affinities terranes. Zircon cores from Punta del Este Terrane basement orthogneisses have U-Pb ages of ca. 1,000 Ma, which indicate an lineage with the Namaqua Belt in Southwestern Africa. U-Pb zircon ages also provide the following information on the Punta del Este terrane: the orthogneisses containing the ca. 1,000 Ma inheritance formed at ca. 750 Ma; in contrast to the related terranes now in Africa, reworking of the Punta del Este Terrane during Brasiliano/Pan-African orogenesis was very intense, reaching granulite facies at ca. 640 Ma. The termination of the Brasiliano/Pan-African orogeny is marked by formation of acid volcanic and volcanoclastic rocks at ca. 570 Ma (Sierra de Aguirre Formation), formation of late sedimentary basins (San Carlos Formation) and then intrusion at ca. 535 Ma of post-tectonic granitoids (Santa Teresa and José Ignacio batholiths). The Punta del Este Terrane and unrelated western terranes represented by the Dom Feliciano Belt and the Río de La Plata Craton were in their present positions by ca. 535 Ma.

  13. TRANSMISIÓN VERTICAL DE HTLV-1 EN EL PERÚ

    PubMed Central

    Villaverde, Jorge Alarcón; Romaní, Franco Romaní; Torres, Silvia Montano; Zunt, Joseph R.

    2012-01-01

    La infección por el virus linfotrópico humano de células T tipo 1 (HTLV-1) ha sido descrita en muchas áreas del mundo, como en los países del Caribe, Japón, África, Oceanía y en Sudamérica. En la presente revisión definimos la endemicidad del HTLV-1 en el país, planteando cuatro criterios epidemiológicos. Luego discutimos el tema central de la revisión: la transmisión vertical del HTLV-1, que en nuestro país sería uno de los principales mecanismos de transmisión. Dentro del desarrollo de este aspecto en particular, presentamos una estimación de la tasa de transmisión vertical y los factores de riesgo asociados con la transmisión vertical sobre la base de una revisión exhaustiva de estudios nacionales y extranjeros. Con esta revisión pretendemos dar una primera aproximación al estudio de la trasmisión vertical de HTLV-1, un aspecto poco estudiado en nuestro medio. PMID:21537777

  14. Quantum Confinement at Polar Oxide Interfaces

    NASA Astrophysics Data System (ADS)

    Gariglio, Stefano; Li, Danfeng; Wu, Zhenping; Liu, Wei; Fete, Alexandre; Boselli, Margherita; Lemal, Sebastien; Bristowe, Nicholas; Ghosez, Philippe; Gabay, Marc; Triscone, Jean-Marc

    The discovery of a two-dimensional electron liquid (2DEL), confined at the interface between the two band insulators LaAlO3 (LAO) and SrTiO3 (STO) has generated tremendous research interest. The 2DEL confinement lifts the degeneracy of Ti t2 g orbitals and promotes exotic physical properties. A previous study has demonstrated that a 2DEL is also observed when LAO is alloyed with STO (La,Al)1-x(Sr,Ti)xO3 (LASTO: x). The threshold thickness required for the onset of conductivity scales with x. We present here a study of superconductivity at the (LASTO:0.5)/STO interface. The thickness of the 2DEL, measured using perpendicular and parallel critical fields, is larger than the one at the LAO/STO interface. This change is due to a modification on the confining potential linked to a reduced charge transfer that is scaling as 1 / x . This scenario is also confirmed by a self-consistent Poisson-Schrödinger model and ab initio calculations. These compelling evidences support an intrinsic origin to the formation of the 2DEL in the LAO/STO system.

  15. Multicolor spectral karyotype analysis of a transplantable human ileal carcinoid.

    PubMed

    Sjögren, H; Nilsson, O; Behrendt, M; Kölby, L; Jacobsen Levin, A M; Ahlman, H; Stenman, G

    2000-12-01

    In this report we present the results of a combined cytogenetic and multicolor spectral karyotype (SKY) analysis of a transplantable human ileal carcinoid (GOT1). By using SKY it was possible to identify the origin and organization of all clonal marker chromosomes and to identify cryptic translocations not detectable by conventional chromosome banding. The stemline karyotype of low passage GOT1 cells was interpreted as 43,XX, der(1)del(1)(?), inv(2)(p25q13), del(3)(p21), del(5)(q13q31), del(6)(q13), -9, -13, -15, del(16) (q22). Analysis of the GOT1 cells after about 2.5 years of propagation in nude mice allowed us to follow the in vivo progression of this tumor. Relatively few additional rearrangements had occurred during this period, indicating that the GOT1 cells are genetically stable. Most of the abnormalities detected result in loss of whole or parts of chromosomes, suggesting that loss of multiple chromosomal regions, presumably containing tumor suppressor genes, might be important genetic events in ileal carcinoids.

  16. [CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer].

    PubMed

    Adank, Muriel A; Hes, Frederik J; van Zelst-Stams, Wendy A G; van den Tol, M Petrousjka; Seynaeve, Caroline; Oosterwijk, Jan C

    2015-01-01

    In the majority of breast cancer families, DNA testing does not show BRCA1 or BRCA2 mutations and the genetic cause of breast cancer remains unexplained. Routine testing for the CHEK2*1100delC mutation has recently been introduced in breast cancer families in the Netherlands. The 1100delC mutation in the CHEK2-gene may explain the occurrence of breast cancer in about 5% of non-BRCA1/2 families in the Netherlands. In the general population the CHEK2*1100delC mutation confers a slightly increased breast cancer risk, but in a familial breast cancer setting this risk is between 35-55% for first degree female carriers. Female breast cancer patients with the CHEK2*1100delC mutation are at increased risk of contralateral breast cancer and may have a less favourable prognosis. Female heterozygous CHEK2*1100delC mutation carriers are offered annual mammography and specialist breast surveillance between the ages of 35-60 years. Prospective research in CHEK2-positive families is essential in order to develop more specific treatment and screening strategies.

  17. CHEK2 (∗) 1100delC Mutation and Risk of Prostate Cancer.

    PubMed

    Hale, Victoria; Weischer, Maren; Park, Jong Y

    2014-01-01

    Although the causes of prostate cancer are largely unknown, previous studies support the role of genetic factors in the development of prostate cancer. CHEK2 plays a critical role in DNA replication by responding to double-stranded breaks. In this review, we provide an overview of the current knowledge of the role of a genetic variant, 1100delC, of CHEK2 on prostate cancer risk and discuss the implication for potential translation of this knowledge into clinical practice. Currently, twelve articles that discussed CHEK2 (∗)1100delC and its association with prostate cancer were identified. Of the twelve prostate cancer studies, five studies had independent data to draw conclusive evidence from. The pooled results of OR and 95% CI were 1.98 (1.23-3.18) for unselected cases and 3.39 (1.78-6.47) for familial cases, indicating that CHEK2 (∗)1100delC mutation is associated with increased risk of prostate cancer. Screening for CHEK2(∗)1100delC should be considered in men with a familial history of prostate cancer.

  18. CHEK2 ∗1100delC Mutation and Risk of Prostate Cancer

    PubMed Central

    Park, Jong Y.

    2014-01-01

    Although the causes of prostate cancer are largely unknown, previous studies support the role of genetic factors in the development of prostate cancer. CHEK2 plays a critical role in DNA replication by responding to double-stranded breaks. In this review, we provide an overview of the current knowledge of the role of a genetic variant, 1100delC, of CHEK2 on prostate cancer risk and discuss the implication for potential translation of this knowledge into clinical practice. Currently, twelve articles that discussed CHEK2 ∗1100delC and its association with prostate cancer were identified. Of the twelve prostate cancer studies, five studies had independent data to draw conclusive evidence from. The pooled results of OR and 95% CI were 1.98 (1.23–3.18) for unselected cases and 3.39 (1.78–6.47) for familial cases, indicating that CHEK2 ∗1100delC mutation is associated with increased risk of prostate cancer. Screening for CHEK2∗1100delC should be considered in men with a familial history of prostate cancer. PMID:25431674

  19. La meridiana di Egnazio Danti nella Torre dei Venti in Vaticano: un'icona della riforma Gregoriana del calendario

    NASA Astrophysics Data System (ADS)

    Sigismondi, Costantino

    2014-05-01

    La Torre dei Venti domina l’angolo Sud Ovest del cortile della Pigna (nell'area dei Musei Vaticani), ed è inclusa negli ambienti dell'Archivio Segreto Vaticano. Non è aperta al pubblico, ma è universalmente nota per la fama che da oltre quattrocento anni la circonda, legata alle vicende della riforma Gregoriana del calendario. La meridiana tracciata da padre Egnazio Danti (1536-1586) nella torre dei Venti, fu visitata anche da Gregorio XIII, probabilmente il 21 marzo 1581 come suppone il padre Stein, per convincersi dell'anticipo ormai arrivato a dieci giorni dell'equinozio di primavera sulla data che il concilio di Nicea aveva fissato al 21 marzo per il computo pasquale. La ricognizione astrometrica del febbraio-marzo 2009 fatta dall'autore viene qui presentata.

  20. El Mejoramiento de la Efectividad del Personal de las Diferentes Unidades del Ejrcito de Guatemala Involucradas en la Integracin de Contingentes Desplegados en Diferentes Misiones de Paz de la Organizacin de las Naciones Unidas (Improving the Effectiveness of Guatemalan Army Units that Provide Soldiers to Units Deployed in United Nations Peace Missions)

    DTIC Science & Technology

    2017-06-09

    del Ejército de EE.UU. Colegio de Comando y Estado Mayor en el cumplimiento parcial de los requisitos para el grado de MAESTRÍA EN CIENCIAS Y...Rev. 8-98) Prescribed by ANSI Std. Z39.18 iii MAESTRÍA EN CIENCIAS Y ARTES MILITARES PAGINA DE APROBACIÓN DE LA TESIS Name of Candidate: Major... Ciencias Militares. A mi honorable comité de tesis, Doctor Edwin Roldán, Coronel Francisco Rivera Pérez del Ejército de Guatemala y al Mayor Rafael

  1. Evolución estelar en sistemas binarios

    NASA Astrophysics Data System (ADS)

    De Vito, M. A.; Benvenuto, O.

    Definición y clasificación de sistemas binarios; descripción del comportamiento del sistema frente a la variación de su masa; binarias de rayos X; transferencia de masa en sistemas binarios masivos aplicado al posible esclarecimiento del progenitor azul de la supernova SN 1987A; comentario acerca de la evolución de enanas blancas de helio de baja masa y su conexión con los sistemas binarios; reseña del trabajo de Kippenhahn y Weigert sobre el cual está basado el código evolutivo desarrollado en la FCAG por el Dr. Benvenuto y sobre el cual se trabajará para poder incluir la evolución de una estrella con pérdida de masa perteneciente a un sistema binario.

  2. Sexual selection on multivariate phenotypes in Anastrepha Fraterculus (Diptera: Tephritidae) from Argentina

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Sciurano, R.; Rodriguero, M.; Gomez Cendra, P.

    Despite the interest in applying environmentally friendly control methods such as sterile insect technique (SIT) against Anastrepha fraterculus (Wiedemann) (Diptera: Tephritidae), information about its biology, taxonomy, and behavior is still insufficient. To increase this information, the present study aims to evaluate the performance of wild flies under field cage conditions through the study of sexual competitiveness among males (sexual selection). A wild population from Horco Molle, Tucuman, Argentina was sampled. Mature virgin males and females were released into outdoor field cages to compete for mating. Morphometric analyses were applied to determine the relationship between the multivariate phenotype and copulatory success.more » Successful and unsuccessful males were measured for 8 traits: head width (HW), face width (FW), eye length (EL), thorax length (THL), wing length (WL), wing width (WW), femur length (FL), and tibia length (TIL). Combinations of different multivariate statistical methods and graphical analyses were used to evaluate sexual selection on male phenotype. The results indicated that wing width and thorax length would be the most probable targets of sexual selection. They describe a non-linear association between expected fitness and each of these 2 traits. This non-linear relation suggests that observed selection could maintain the diversity related to body size. (author) [Spanish] A pesar del interes por la aplicacion de metodos de control de bajo impacto ambiental sobre Anastrepha fraterculus (Diptera: Tephritidae), como la Tecnica del Insecto Esteril (TIE), no existe aun informacion suficiente sobre su biologia, taxonomia y comportamiento. Este trabajo tiene como objetivo evaluar el desempeno de moscas en jaulas de campo a traves del estudio de la competitividad sexual entre machos salvajes (seleccion sexual). Para ello, se muestreo una poblacion de Horco Molle, Tucuman (Argentina). En jaulas de campo se liberaron machos y hembras adultos virgenes para evaluar la competicion por el apareamiento. Se midieron ocho rasgos morfometricos en machos exitosos y no exitosos: ancho de la cabeza, ancho de la cara, largo del ojo, largo del torax, largo del ala, ancho del ala, largo del femur y largo de la tibia. Se realizaron analisis morfometricos para determinar la relacion entre el fenotipo multivariado y el exito copulatorio. Para evaluar la seleccion sexual sobre el fenotipo del macho se utilizaron diferentes combinaciones de metodos estadisticos multivariados y analisis graficos. Los resultados demostraron que el ancho de ala y el largo de torax serian los blancos mas probables de seleccion sexual, y describen una asociacion no lineal entre el exito copulatorio y cada uno de estos dos rasgos. Dicha asociacion sugiere que la seleccion observada mantendria la diversidad para el tamano del cuerpo. (author)« less

  3. La implantacion del enfoque constructivista en el aula de ciencia: Estudio de caso multiple

    NASA Astrophysics Data System (ADS)

    Arroyo Betancourt, Luz I.

    Esta investigacion estudia la implantacion del enfoque constructivista en tres aulas de ciencia del contexto puertorriqueno. Se auscultaron las practicas educativas que utilizan maestras consideradas constructivistas y la correspondencia de sus practicas educativas con los elementos esenciales de la didactica que proponen los teoricos de los planteamientos constructivistas. Se ausculto, ademas, a que vision del enfoque constructivista responden las expresiones de las maestras acerca de su practica educativa y como compara con su quehacer, a la luz de los elementos esenciales de las visiones constructivistas piagetiana, social y radical. Se utilizo el diseno de estudio descriptivo de caso multiple. El estudio se baso en entrevistas a profundidad, revision de documentos y observacion no participativa a la sala de clases. El contexto fueron tres escuelas publicas de la Region Educativa de San Juan, una elemental, una intermedia y una superior. Los resultados confirmaron que la transicion hacia el enfoque constructivista es un proceso que toma tiempo, dedicacion y la participacion en adiestramientos y readiestramientos acerca del nuevo enfoque. Las maestras coinciden en la mayoria de las practicas educativas que utilizan para implantar el enfoque constructivista de ensenanza y difieren en algunas debido, probablemente, a que han tenido que adaptarlas a los correspondientes niveles de ensenanza: elemental, intermedio y superior. Dos de las maestras planifican por conceptos generadores, mientras que una de ellas planifica siguiendo la guia que recibe del Departamento de Educacion. Difieren ademas, en el enfasis que confieren al inquirir cientifico. Con relacion a la correspondencia entre la vision manifestada por las maestras a la luz de las visiones piagetiana, social y radical, aparentemente, las preguntas del protocolo de entrevistas no lograron evocar la informacion con suficiente profundidad, por lo que la investigadora tuvo que inferir las visiones de las participantes basado en lo que estas manifestaron en su practica didactica. Dos maestras coinciden en una vision constructivista social de la construccion del conocimiento, del aprendizaje y de los metodos didacticos. La otra manifesto una vision constructivista piagetiana en el aprendizaje, los metodos didacticos y en la construccion del conocimiento. Se espera que este trabajo, ademas de promover los estudios de caso sobre el enfoque constructivista de ensenanza en el contexto puertorriqueno, sirva para que los maestros, que estan transformando su enfoque educativo de uno tradicional a uno constructivista, tengan una vision mas clara de la implantacion de este enfoque. Se espera ademas que sirva para que el Departamento de Educacion y sus programas de adiestramiento y readiestramiento en servicio, asi como las universidades y sus programas de preparacion de maestros, tomen en cuenta los resultados y recomendaciones de este estudio al revisar sus programas.

  4. Radon

    MedlinePlus

    ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Page last reviewed: March 3, 2011 Page ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Contact Us: Agency for Toxic Substances and ...

  5. Mercury

    MedlinePlus

    ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Page last reviewed: February 12, 2013 Page ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Contact Us: Agency for Toxic Substances and ...

  6. Asbestos

    MedlinePlus

    ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Page last reviewed: March 3, 2011 Page ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Contact Us: Agency for Toxic Substances and ...

  7. Quantifying Loss of Acoustic Communication Space for Right Whales in and around a U.S. National Marine Sanctuary

    DTIC Science & Technology

    2012-01-01

    buscan mejorar el manejo de los efectos acumulativos del ruido sobre especies marinas y sus hábitats. Palabras Clave: área marina protegida, especies...dependientes del sonido para comunicarse están poco entendidos. Buscamos desarrollar métodos para cuantificar los efectos del enmascaramiento de la comu... tiempo ( tiempo pico de alimentación). Utilizamos un conjunto de grabadoras acústicas autónomas, temporales, montadas en el fondo en el Santuario

  8. Degradación de Marismas Costera: el Impacto de la Eutrofización en la Supervivencia del las Marismas Costeras en New England y Central California, USA. (Salt Marsh Deterioration in New England and Central California: Impacts of Eutrophication on Salt Marsh Survival.)

    EPA Science Inventory

    Las marismas costeras proporcionan numerosos beneficios a los ecosistemas, incluyendo la proporción del hábitat de la flora y fauna, la protección de las zonas costeras contra inundaciones durante eventos extremos, mejoran la calidad del agua para las almejas y ostras a través de...

  9. Gonadal dysgenesis, Turner syndrome with 46,XX,del(18p)3

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Telvi, L.; Ion, R.; Bernheim, A.

    1994-09-01

    The authors report a case of a female infant with gonadal dysgenesis, clinical features of Turner syndrome and a de novo del(18p). The factors controlling gonadal dysgenesis and Turner syndrome are unknown to date. The genes involved could be located not only on X chromosome but also on autosomes. The present case suggests that one of these genes is situated on the short arm of chromosome 18. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.

  10. [The Revista Médica del IMSS in the 2017 Healthcare Book Fair].

    PubMed

    Ramiro-H, Manuel; Acosta-Pérez, L; Cruz-Aranda, J E; García-Damián, J J; Miguel-Reyes, R; González-Martínez, R

    2017-01-01

    On August, the second edition of the Healthcare Book Fair took place, sponsored by the Facultad de Medicina of UNAM. Again, the Revista Médica del Instituto Mexicano del Seguro Social participated with a stand where we promoted it, talked about the different indexes where our journal is included, explained its objective and scope, and finally talked about its nature as an open access journal, which is aimed to the clinical staff of the different health institutions of our country.

  11. Seven new species of Loneura Navás (Insecta: Psocodea: 'Psocoptera': Ptiloneuridae) from Valle del Cauca, Colombia.

    PubMed

    Nieto, Julián Alexander Mendivil; Aldrete, Alfonso Neri García; Obando, Ranulfo González

    2017-02-06

    Seven species of Loneura from natural areas of Valle del Cauca, Colombia, are described and illustrated. The female of L. andina is described for the first time. Two additional species, known only from the National Natural Park Gorgona (Cauca), are also recorded in Valle del Cauca. The new species are assigned to the infrageneric groups known in the genus. An identification key to males of Loneura is included.

  12. Casimir force in the Gödel space-time and its possible induced cosmological inhomogeneity

    NASA Astrophysics Data System (ADS)

    Khodabakhshi, Sh.; Shojai, A.

    2017-07-01

    The Casimir force between two parallel plates in the Gödel universe is computed for a scalar field at finite temperature. It is observed that when the plates' separation is comparable with the scale given by the rotation of the space-time, the force becomes repulsive and then approaches zero. Since it has been shown previously that the universe may experience a Gödel phase for a small period of time, the induced inhomogeneities from the Casimir force are also studied.

  13. Síntesis del estado del conocimiento del ciclo de carbono en ecosistemas boscosos de los Estados Unidos

    Treesearch

    Michael G. Ryan; Mark E. Harmon; Richard A. Birdsey; Christian P. Giardina; Linda S. Heath; Richard A. Houghton; Robert B. Jackson; Duncan C. McKinley; James F. Morrison; Brian C. Murray; Diane E. Pataki; Kenneth E. Skog

    2010-01-01

    Los bosques juegan un papel central en el ciclo de carbono de los Estados Unidos y global. El secuestro de carbono de los bosques de los Estados Unidos, a través de su crecimiento y la cosecha de productos madereros, compensa en la actualidad entre un 12 y un 19% de las emisiones de carbono asociadas al uso de combustible fósil de dicho país. El ciclo natural de un...

  14. Consistent Safety and Infectivity in Sporozoite Challenge Model of Plasmodium vivax in Malaria-Naive Human Volunteers

    DTIC Science & Technology

    2011-02-01

    Ramírez , Juan D. Vélez , Judith E. Epstein , Thomas L. Richie , and Myriam Arévalo-Herrera Instituto de Inmunología, Universidad del Valle, Cali...PROJECT NUMBER 5e. TASK NUMBER 5f. WORK UNIT NUMBER 7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Instituto de Inmunologia, Universidad del...Echavarría, Leonardo Rocha, and Myriam Arévalo-Herrera, Instituto de Inmunología, Edificio de Microbiología, Facultad de Salud, Universidad del Valle

  15. National Drug IQ Challenge

    MedlinePlus

    ... del coeficiente intelectual (CI) sobre las drogas y el alcohol 2016 National Drug IQ Challenge 2016 Reto ... del coeficiente intelectual (CI) sobre las drogas y el alcohol 2015 National Drug IQ Challenge 2015 Reto ...

  16. Beryllium Toxicity

    MedlinePlus

    ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Beryllium Toxicity Patient Education Care Instruction Sheet ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Page last reviewed: May 23, 2008 Page ...

  17. ToxFAQs

    MedlinePlus

    ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Get email updates To receive email updates ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Page last reviewed: June 24, 2014 Page ...

  18. EGFR Exon 18 Mutations in Lung Cancer: Molecular Predictors of Augmented Sensitivity to Afatinib or Neratinib as Compared with First- or Third-Generation TKIs.

    PubMed

    Kobayashi, Yoshihisa; Togashi, Yosuke; Yatabe, Yasushi; Mizuuchi, Hiroshi; Jangchul, Park; Kondo, Chiaki; Shimoji, Masaki; Sato, Katsuaki; Suda, Kenichi; Tomizawa, Kenji; Takemoto, Toshiki; Hida, Toyoaki; Nishio, Kazuto; Mitsudomi, Tetsuya

    2015-12-01

    Lung cancers harboring common EGFR mutations respond to EGFR tyrosine kinase inhibitors (TKI), whereas exon 20 insertions (Ins20) are resistant to them. However, little is known about mutations in exon 18. Mutational status of lung cancers between 2001 and 2015 was reviewed. Three representative mutations in exon 18, G719A, E709K, and exon 18 deletion (Del18: delE709_T710insD) were retrovirally introduced into Ba/F3 and NIH/3T3 cells. The 90% inhibitory concentrations (IC90s) of first-generation (1G; gefitinib and erlotinib), second-generation (2G; afatinib, dacomitinib, and neratinib), and third-generation TKIs (3G; AZD9291 and CO1686) were determined. Among 1,402 EGFR mutations, Del19, L858R, and Ins20 were detected in 40%, 47%, and 4%, respectively. Exon 18 mutations, including G719X, E709X, and Del18, were present in 3.2%. Transfected Ba/F3 cells grew in the absence of IL3, and NIH/3T3 cells formed foci with marked pile-up, indicating their oncogenic abilities. IC90s of 1G and 3G TKIs in G719A, E709K, and Del18 were much higher than those in Del19 (by >11-50-fold), whereas IC90s of afatinib were only 3- to 7-fold greater than those for Del19. Notably, cells transfected with G719A and E709K exhibited higher sensitivity to neratinib (by 5-25-fold) than those expressing Del19. Patients with lung cancers harboring G719X exhibited higher response rate to afatinib or neratinib (∼ 80%) than to 1G TKIs (35%-56%) by compilation of data in the literature. Lung cancers harboring exon 18 mutations should not be overlooked in clinical practice. These cases can be best treated with afatinib or neratinib, although the currently available in vitro diagnostic kits cannot detect all exon 18 mutations. ©2015 American Association for Cancer Research.

  19. Influence of the genetic polymorphism in the 5'-noncoding region of the CYP1A2 gene on CYP1A2 phenotype and urinary mutagenicity in smokers.

    PubMed

    Pavanello, Sofia; Pulliero, Alessandra; Lupi, Silvia; Gregorio, Pasquale; Clonfero, Erminio

    2005-11-10

    The functional significance of genetic polymorphisms on tobacco smoke-induced CYP1A2 activity was examined. The influence of three polymorphisms of the cytochrome P450 1A2 gene (CYP1A2) (-3860 G-->A (allele *1C), -2467 T-->delT (allele *1D), -163C-->A (allele *1F)), located in the 5'-noncoding promoter region of the gene, on CYP1A2 activity (measured as caffeine metabolic ratio, CMR), was studied in Caucasian current smokers (n=95). Tobacco smoke intake was calculated from the number of cigarettes/day. Also, studied was the influence of these CYP1A2 genotypes on smoking-associated urinary mutagenicity, detected in Salmonella typhimurium strain YG1024 with S9 mix, considering the urinary excretion of nicotine plus its metabolites as an internal indicator of tobacco smoke exposure. Smokers with at least one of the variant alleles CYP1A2 -3860A and -2467 delT showed a significantly increased CYP1A2 CMR (-3860 G/A versus G/G, p<0.05; -2467 delT/delT versus T/delT and T/T, p<0.01). Multiple regression analysis showed that the increase in CYP1A2 CMR (ln values) was again significantly related to the presence of CYP1A2 variants -2467delT and also to variant -163A (p<0.05), but moderately to -3860A (p=0.084). No influence of the number of cigarettes smoked per day by each subject was found. Heavy smokers (n=48, with urinary nicotine plus its metabolites>or=0.69 mg/mmol creatinine) with variant allele -2467delT or -163A had significantly increased urinary mutagenicity (p<0.01 and <0.05). CYP1A2 genetic polymorphisms are shown to influence the CYP1A2 phenotype in smokers, -2467 T-->delT having the main effect. This information is of interest for future studies assessing the possible role of tobacco smoke-inducible CYP1A2 genotypes as individual susceptibility factors in exposure to carcinogens.

  20. The alteration of T790M between 19 del and L858R in NSCLC in the course of EGFR-TKIs therapy: a literature-based pooled analysis.

    PubMed

    Liang, Hengrui; Pan, Zhenkui; Wang, Wei; Guo, Chengye; Chen, Difei; Zhang, Jianrong; Zhang, Yiyin; Tang, Shiyan; He, Jianxing; Liang, Wenhua

    2018-04-01

    Treatment-naive epidermal growth factor receptor (EGFR) T790M mutation is more inclined to coexist with L858R than with 19 del in non-small cell lung cancer (NSCLC) patients. However, EGFR-tyrosine kinase inhibitors (EGFR-TKIs) might alter this status. We sought to compare the prevalence of T790M upon acquired resistance to EGFR-TKIs between 19 del and L858R by assembling all existing data. Electronic databases were comprehensively searched for eligible studies. The primary endpoint was the odds ratio (OR) of T790M mutation in NSCLC co-existing with L858R mutation and 19 del upon resistance to first-generation EGFR-TKIs. A random effects model was used. Stratified analysis was performed based on study type (retrospective and prospective), race (Asians and Caucasians) and sample type (tissue and plasma). A total of 25 studies involving 1,770 patients were included. The overall T790M existent rate was 45.25%. Post-resistance T790M was more frequent in 19 del than in L858R mutated patients (53% vs. 36%; OR 1.87; P<0.001). All outcomes of subgroup and overall analyses were similar. In contrast, we re-analyzed the previous meta-analysis, finding that the pooled rate of pretreatment T790M was 14% and 22% in 19 del and L858R respectively (OR 0.59; P<0.001). The increase of T790M rate was 2.79-fold in 19 del and only 0.63-fold in L858R in the course of EGFR-TKIs therapy. Opposite to the situation of de novo T790M, it was observed that T790M was more frequent in exon 19 deletion than in L858R among patients with acquired resistance to EGFR-TKIs. The difference in T790M alteration between 19 del and L858R encourages development of detection or treatment strategies for the specific resistance mechanism.

  1. Benign chronic neutropenia with abnormalities involving 16q22, affecting mother and daughter.

    PubMed

    Glasser, Lewis; Meloni-Ehrig, Aurelia; Joseph, Plakyil; Mendiola, Jennifer

    2006-04-01

    We report a case of familial, chronic, benign neutropenia in a 17-year-old female showing (1) the spontaneous expression of a heritable rare fragile site at 16q22 and (2) a deletion at the same region. The del(16)(q22), which most likely originated from the fragile site, was the main clonal abnormality detected in the patient's bone marrow cells, whereas a few cells with either del(16)(q22) or fra(16)(q22) were seen in the patient's peripheral blood. Interestingly, the del(16q) was also detected in the patient's uncultured cells, as demonstrated by FISH, excluding an in vitro origin of the del(16q) during culture. The bone marrow was hypocellular with decreased neutrophils and their precursors. Absolute neutrophil counts ranged from (0.62 to 1.24) x 10(9)/L with a median value of 1.02 x 10(9)/L. The patient had a more severe neutropenia than her mother, which correlated with the presence of more cells with del(16q) in the marrow. The patient's mother, who was also diagnosed with neutropenia, revealed only a few cells with the rare fra(16)(q22) in her peripheral blood cells, whereas her bone marrow showed cells with both fra(16)(q22) and del(16)(q22), although the del(16q) was present in only 2/20 cells. Some possible candidate genes contributing to the pathogenesis of the neutropenia are discussed. Chromosome abnormalities involving the 16q22 breakpoint have been observed in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In this patient, the del(16)(q22) risk factor is unknown for subsequent development of MDS or AML. Another point to consider is the need to determine the origin of a chromosome abnormality, particularly when the clinical picture does not fit the chromosome findings. Although, the observation of a constitutional structural abnormality in a mosaic form is an extremely rare event, it is somewhat different in the case of a fragile site expression, which can, as in this case, be present in some cells and not in others. Copyright 2006 Wiley-Liss, Inc.

  2. "Estudio tribologico de aceros para moldes. Aplicacion al moldeo por inyeccion de polibutilentereftalato reforzado con fibra de vidrio"

    NASA Astrophysics Data System (ADS)

    Martinez Mateo, Isidoro Jose

    Mould materials for injection moulding of polymers and polymer-matrix composites represent a relevant industrial economic sector due to the large quantity of pieces and components processed. The material selection for mould manufacturing, its composition and heat treatment, the hardening procedures and machining and finishing processes determine the service performance and life of the mould. In the first part of the present study, the relationship between the hardness and microstructure and the wear resistance of mould steels from large blocks has been studied by pin-on-disc tests, studying the main wear mechanisms. In order to determine the surface damage on mould steels under real injection conditions, different commercial steels have been studied by measuring the variation of surface roughness with the number of injected pieces with different reinforcement percentages and different mould geometries, by using optical profilometry and scanning electron microscopy techniques. It was important to determine the variation of surface roughness of the moulded pieces with the number of injection operations. The materials used were polybutyleneterephthalate pure and reinforced with either 20% or 50% glass fibre. For the different mould designs, the evolution of the glass fibre orientation with injection flow has been determined by image analysis and related to roughness changes and surface damage, both of the composite parts and of the mould steel surface. Finally, the abrasion resistance of the composite parts has been studied by scratch tests as a function of the number of injected parts and of the scratch direction with respect to injection flow and glass fibre orientation. Los materiales para moldes de inyeccion de polimeros y materiales compuestos representan un sector economicamente muy relevante debido al gran aumento del numero de componentes fabricados a partir de materiales polimericos obtenidos mediante moldeo por inyeccion. La seleccion del material para la fabricacion del molde, tienen una gran influencia sobre su comportamiento en servicio a lo largo de la vida util del molde. En la primera parte del presente estudio, a partir de ensayos punzon sobre disco, se ha determinado la relacion entre la resistencia al desgaste y la dureza de aceros para moldes obtenidos a partir de bloques de gran espesor, estudiando los principales mecanismos de desgaste que tienen lugar. A continuacion, con el fin de determinar el dano superficial que sufren los aceros para moldes en condiciones reales de inyeccion, se han estudiado distintos tipos de aceros utilizados comercialmente en moldes de inyeccion de polimeros y materiales compuestos, seleccionando las condiciones de operacion para determinar la variacion de la rugosidad superficial del acero en funcion del material inyectado, del numero de operaciones sucesivas de inyeccion y de la orientacion del flujo de inyeccion, mediante tecnicas de perfilometria optica y microscopia electronica de barrido. Ademas del dano superficial sufrido por el acero con el numero de piezas inyectadas, tambien se ha determinado la evolucion de la rugosidad superficial de los materiales inyectados, polibutilentereftalato (PBT) puro y materiales compuestos derivados de PBT por adicion de un 20 o un 50% en peso de fibra de vidrio. En el caso de las piezas inyectadas, se ha caracterizado su microestructura en funcion del flujo de inyeccion y de la densidad de fibra, se han determinado sus propiedades termicas y dinamico-mecanicas, asi como la variacion de la rugosidad superficial de las piezas inyectadas con el numero de operaciones de inyeccion y con la geometria de las distintas secciones de las piezas. Finalmente, se ha evaluado la resistencia a la abrasion de PBT reforzado con un 50% de fibra, en funcion del numero de piezas inyectadas y de la direccion de rayado con respecto a la orientacion del flujo de inyeccion.

  3. Case Study: del Amo Bioventing

    EPA Science Inventory

    The attached presentation discusses the fundamentals of bioventing in the vadose zone. The basics of bioventing are presented. The experience to date with the del Amo Superfund Site is presented as a case study.

  4. Prediabetes

    MedlinePlus

    ... riesgo más alto de tener diabetes tipo 2, enfermedades del corazón, accidentes cerebrovasculares y otros problemas de ... del Instituto Nacional de la Diabetes y las Enfermedades Digestivas y Renales (NIDDK, por sus siglas en ...

  5. Chromium isotope inventory of Cr(VI)-polluted groundwaters at four industrial sites in Central Europe

    NASA Astrophysics Data System (ADS)

    Novak, Martin; Martinkova, Eva; Chrastny, Vladislav; Stepanova, Marketa; Curik, Jan; Szurmanova, Zdenka; Cron, Marcel; Tylcer, Jiri; Sebek, Ondrej

    2016-04-01

    Chromium is one of the most toxic elements, especially in its dissolved Cr(VI) form. In the Czech Republic (Central Europe), massive contamination of groundwater has been reported at more than 200 industrial operations. Under suitable conditions, i.e., low Eh, and high availability of reductive agents, Cr(VI) in groundwater may be spontaneously reduced to solid, largely non-toxic Cr(III). This process is associated with a Cr isotope fractionation, with the residual liquid Cr(VI) becoming enriched in the heavier isotope 53Cr. At industrial operations that have been closed and/or where no further leakage of Cr(VI) occurs, the contaminated groundwater plume may be viewed as a closed system. At such sites, an increasing degree of Cr(VI) reduction should result in an increasing del53/52Cr value of the residual liquid. Here we present del53/52Cr systematics at four contaminated Czech sites, focusing on groundwaters. At two of the four sites (Zlate Hory, Loucna) we were also able to analyze the source of contamination. Chromium in the electroplating solutes was isotopically relatively light, with del53/52Cr values <1 per mil. At the remaining two sites (Letnany and Velesin), the Cr isotope signature of the source of contamination was not known. At all four sites, most del53/52Cr values were positive, with means higer than 1 per mil: At Zlate Hory, del53/52Cr ranged between -2.2 and +3.0 per mil (mean of +1.5 per mil); at Loucna, del53/52Cr ranged between 0 and +4.0 per mil (mean of +1.7 per mil); at Letnany, del53/52Cr ranged between +2.0 and +4.5 per mil (mean of +3.2 per mil); and at Velesin, del53/52Cr ranged between +0.5 and +4.5 per mil (mean of +2.7 per mil). Cr(VI) reduction may proceed at Zlate Hory and Loucna, where del53/52Cr(VI) values in groundwater were on average higher than those of the contamination source. At these two sites, our Cr isotope data are not consistent with the existing estimates of the amount of dissolved and precipitated Cr: The pool size of solid Cr(III) in the soil was estimated at 6600 and 500 kg at Zlate Hory and Loucna, respectively. At the same time, the pool size of dissolved Cr(VI) was estimated at 50 and 1.2 kg at Zlate Hory and Loucna, respectively. It follows that, at both sites, less than 1 % of the entire Cr that had leaked into the aquifer an a liquid form remained in the liquid form. If, indeed, most solid Cr now present in the saturated zone had undergone anaerobic reduction, we would expect much higher del53/52Cr values of the residual liquid Cr(VI) than those actually observed. Our understanding of the system is incomplete. Currently, del53/52Cr values of the contaminated soils are being determined in an attempt to close a Cr isotope mass balance.

  6. Los grandes telescopios ópticos e infrarrojos

    NASA Astrophysics Data System (ADS)

    Rodríguez-Espinosa, J. M.

    Recientemente se han puesto en funcionamiento telescopios de 8 y 10 metros de diámetro de su espejo primario que están significando un gran avance en las capacidades observacionales de la Astronomía moderna. Igualmente en nuestro país se está construyendo el Gran Telescopio de Canarias (GTC) que situará a la Astronomía española en la vanguardia de esta disciplina. En mi charla hablaré de las oportunidades observacionales que suponen estos grandes telescopios para la Astronomía moderna. Hablaré del GTC y del esfuerzo español por ser actores principales del desarrollo de la Astronomía moderna. Por último, mostraré brevemente los proyectos futuros de grandes telescopios que se están proponiendo a ambos lados del Atlántico.

  7. PubMed

    López Gómez, Juan José; Pérez Castrillón, José Luis; Romero Bobillo, Enrique; De Luis Román, Daniel A

    2016-11-29

    La obesidad interfiere con el metabolismo óseo a través de factores mecánicos, hormonales e inflamatorios. El principal tratamiento de dicha enfermedad es la dieta, modificación de la cantidad y tipo de alimento. Este tratamiento nutricional tiene una influencia sobre el metabolismo óseo en dos sentidos: modifica el efecto del sobrepeso y la obesidad sobre el hueso e interviene directamente en el turnoveróseo a través de las características de los nutrientes utilizados. Esta revisión analiza la evidencia del efecto sobre el hueso del descenso de peso y del patrón dietético utilizado. Por otra parte, se valorarán las modificaciones que se pueden realizar en la dieta indicada en un paciente obeso para prevenir la pérdida ósea, a corto y largo plazo, y disminuir el riesgo de fractura.

  8. Ectopsocidae (Psocodea: 'Psocoptera') from Valle del Cauca and NNP Gorgona, Colombia.

    PubMed

    Manchola, Oscar Fernando Saenz; Obando, Ranulfo González; Aldrete, Alfonso N García

    2014-04-14

    The results of a survey of the psocid family Ectopsocidae in Valle del Cauca and NNP Gorgona, are here presented. Fifteen species were identified, in the genera Ectopsocus (14 species), and Ectopsocopsis (one species); four of the Ectopsocus species are new to science and are here described and illustrated. The male of E. thorntoni García Aldrete is here described. Records of Ectopsocopsis cryptomeriae (Enderlein), Ectopsocus briggsi McLachlan, E. californicus Banks, E. columbianus Badonnel, E. maindroni Badonnel, E. meridionalis Ribaga, E. pilosus Badonnel, E. richardsi Pearman, E. titschacki Jentsch, and E. vilhenai Badonnel, are provided. Ten species were found only in Valle del Cauca, two species were found only in the NNP Gorgona, and three species were found at both sites. The specimens studied are deposited in the Entomological Museum, Universidad del Valle, Santiago de Cali, Colombia (MUSENUV).

  9. Aceptabilidad del diagnóstico rápido casero para HIV entre hombres gay y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires

    PubMed Central

    Balán, Iván C.; Carballo-Diéguez, Alex; Marone, Rubén O.; Pando, María A.; Barreda, Victoria; Ávila, María M.

    2011-01-01

    Resumen El uso del diagnóstico rápido para HIV en Argentina, así como otros países de Latinoamérica, ha sido limitado hasta el momento. Este trabajo reporta los resultados provenientes de un estudio cualitativo realizado entre hombres gays y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires, Argentina. El objetivo principal del mismo fue conocer las ventajas y desventajas que los hombres G&HSH perciben en relación al diagnóstico rápido casero para HIV. Se realizaron ocho grupos focales con 73 participantes en los cuales se discutió acerca de las ventajas y desventajas del uso de los diagnósticos rápidos. Las respuestas fueron codificadas utilizando un programa para análisis de datos cualitativos (NVivo) y analizadas temáticamente. Los participantes describieron numerosas ventajas sobre el uso del diagnóstico rápido casero, aunque algunos reportaron importantes preocupaciones dentro de las cuales se destaca la posibilidad de impulsos suicidas si alguien recibe un resultado positivo estando solo. En términos generales se observó una gran aceptabilidad para el uso del diagnóstico rápido si el mismo es realizado por personal de salud en lugares acondicionados para este fin. PMID:25284951

  10. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Malashkevich, Vladimir N.; Higgins, Chelsea D.; Almo, Steven C.

    The coiled-coil is one of the most ubiquitous and well studied protein structural motifs. Significant effort has been devoted to dissecting subtle variations of the typical heptad repeat sequence pattern that can designate larger topological features such as relative α-helical orientation and oligomer size. Here in this paper we report the X-ray structure of a model coiled-coil peptide, HA2-Del-L2seM, which forms an unanticipated core antiparallel dimer with potential sites for discrete higher-order multimerization (trimer or tetramer). In the X-ray structure, a third, partially-ordered α-helix is weakly associated with the antiparallel dimer and analytical ultracentrifugation experiments indicate the peptide forms amore » well-defined tetramer in solution. The HA2-Del-L2seM sequence is closely related to a parent model peptide, HA2-Del, which we previously reported adopts a parallel trimer; HA2-Del-L2seM differs by only hydrophobic leucine to selenomethione mutations and thus this subtle difference is sufficient to switch both relative α-helical topology and number of α-helices participating in the coiled-coil. Comparison of the X-ray structures of HA2-Del-L2seM (reported here) with the HA2-Del parent (reported previously) reveals novel interactions involving the selenomethionine residues that promote antiparallel coiled-coil configuration and preclude parallel trimer formation. Finally, these novel atomic insights are instructive for understanding subtle features that can affect coiled-coil topology and provide additional information for design of antiparallel coiled-coils.« less

  11. Developing market class specific InDel markers from next generation sequence data in Phaseolus vulgaris L.

    PubMed

    Moghaddam, Samira Mafi; Song, Qijian; Mamidi, Sujan; Schmutz, Jeremy; Lee, Rian; Cregan, Perry; Osorno, Juan M; McClean, Phillip E

    2014-01-01

    Next generation sequence data provides valuable information and tools for genetic and genomic research and offers new insights useful for marker development. This data is useful for the design of accurate and user-friendly molecular tools. Common bean (Phaseolus vulgaris L.) is a diverse crop in which separate domestication events happened in each gene pool followed by race and market class diversification that has resulted in different morphological characteristics in each commercial market class. This has led to essentially independent breeding programs within each market class which in turn has resulted in limited within market class sequence variation. Sequence data from selected genotypes of five bean market classes (pinto, black, navy, and light and dark red kidney) were used to develop InDel-based markers specific to each market class. Design of the InDel markers was conducted through a combination of assembly, alignment and primer design software using 1.6× to 5.1× coverage of Illumina GAII sequence data for each of the selected genotypes. The procedure we developed for primer design is fast, accurate, less error prone, and higher throughput than when they are designed manually. All InDel markers are easy to run and score with no need for PCR optimization. A total of 2687 InDel markers distributed across the genome were developed. To highlight their usefulness, they were employed to construct a phylogenetic tree and a genetic map, showing that InDel markers are reliable, simple, and accurate.

  12. Developing market class specific InDel markers from next generation sequence data in Phaseolus vulgaris L.

    PubMed Central

    Moghaddam, Samira Mafi; Song, Qijian; Mamidi, Sujan; Schmutz, Jeremy; Lee, Rian; Cregan, Perry; Osorno, Juan M.; McClean, Phillip E.

    2013-01-01

    Next generation sequence data provides valuable information and tools for genetic and genomic research and offers new insights useful for marker development. This data is useful for the design of accurate and user-friendly molecular tools. Common bean (Phaseolus vulgaris L.) is a diverse crop in which separate domestication events happened in each gene pool followed by race and market class diversification that has resulted in different morphological characteristics in each commercial market class. This has led to essentially independent breeding programs within each market class which in turn has resulted in limited within market class sequence variation. Sequence data from selected genotypes of five bean market classes (pinto, black, navy, and light and dark red kidney) were used to develop InDel-based markers specific to each market class. Design of the InDel markers was conducted through a combination of assembly, alignment and primer design software using 1.6× to 5.1× coverage of Illumina GAII sequence data for each of the selected genotypes. The procedure we developed for primer design is fast, accurate, less error prone, and higher throughput than when they are designed manually. All InDel markers are easy to run and score with no need for PCR optimization. A total of 2687 InDel markers distributed across the genome were developed. To highlight their usefulness, they were employed to construct a phylogenetic tree and a genetic map, showing that InDel markers are reliable, simple, and accurate. PMID:24860578

  13. Aceptabilidad del diagnóstico rápido casero para HIV entre hombres gay y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires.

    PubMed

    Balán, Iván C; Carballo-Diéguez, Alex; Marone, Rubén O; Pando, María A; Barreda, Victoria; Avila, María M

    2011-03-01

    El uso del diagnóstico rápido para HIV en Argentina, así como otros países de Latinoamérica, ha sido limitado hasta el momento. Este trabajo reporta los resultados provenientes de un estudio cualitativo realizado entre hombres gays y otros hombres que tienen sexo con hombres (G&HSH) de la Ciudad de Buenos Aires, Argentina. El objetivo principal del mismo fue conocer las ventajas y desventajas que los hombres G&HSH perciben en relación al diagnóstico rápido casero para HIV. Se realizaron ocho grupos focales con 73 participantes en los cuales se discutió acerca de las ventajas y desventajas del uso de los diagnósticos rápidos. Las respuestas fueron codificadas utilizando un programa para análisis de datos cualitativos (NVivo) y analizadas temáticamente. Los participantes describieron numerosas ventajas sobre el uso del diagnóstico rápido casero, aunque algunos reportaron importantes preocupaciones dentro de las cuales se destaca la posibilidad de impulsos suicidas si alguien recibe un resultado positivo estando solo. En términos generales se observó una gran aceptabilidad para el uso del diagnóstico rápido si el mismo es realizado por personal de salud en lugares acondicionados para este fin.

  14. Prevalencia y tamizaje del Trastorno por Déficit de Atención con Hiperactividad en Costa Rica

    PubMed Central

    Weiss, Nicholas T.; Schuler, Jovita; Monge, Silvia; McGough, James J.; Chavira, Denise; Bagnarello, Monica; Herrera, Luis Diego; Mathews, Carol A.

    2015-01-01

    Resumen La investigación tuvo como propósito estimar la prevalencia del Trastorno por Déficit de Atención con Hiperactividad (TDAH) en Costa Rica y determinar si la versión en español del cuestionario Swanson Nolan and Pelham Scale IV (SNAP-IV) es un instrumento de tamizaje útil en una población de niños y niñas escolares costarricenses. El instrumento fue entregado a padres y maestros de 425 niños entre 5 y 13 años de edad (promedio = 8.8). Todos fueron evaluados con el instrumento Swanson, Kotkin, Agler, M-Flynn and Pelham Scale (SKAMP). Su diagnóstico fue confirmado con una entrevista clínica. La sensibilidad y la especificidad del SNAP-IV fueron evaluadas como predictores de criterios de diagnóstico según el DSM-IV. La prevalencia puntual en la muestra del TDAH fue del 5%. El tamizaje más preciso lo hizo el SNAP-IV completado por el maestro en un corte de 20%, con una sensibilidad de 96% y una especificidad de un 82%. La sensibilidad de los instrumentos completados por los padres fue más baja que aquella de los maestros. El SNAP-IV completado por las maestras con un corte aislando el 20% de los mayores puntajes categorizó correctamente a un 87% de los sujetos. PMID:22432094

  15. Respiratory syncytial virus infection disrupts monolayer integrity and function in cystic fibrosis airway cells.

    PubMed

    Kong, Michele; Maeng, Patrick; Hong, Jeong; Szczesniak, Rhonda; Sorscher, Eric; Sullender, Wayne; Clancy, John Paul

    2013-09-19

    Respiratory Syncytial Virus (RSV) infection is a common contributor to pulmonary symptoms in children with cystic fibrosis (CF). Here we examined RSV infection in immortalized bronchial epithelial cells (CFBE41o-) expressing wild-type (wt) or F508del cystic fibrosis transmembrane conductance regulator (CFTR), for monolayer integrity and RSV replication. CFBE41o- monolayers expressing wt or F508del CFTR were grown on permeable supports and inoculated with RSV A2 strain. Control experiments utilized UV-inactivated RSV and heat-killed RSV. Monolayer resistance and RSV production was monitored for up to six days post-infection. Within 24 h, a progressive decrease in monolayer resistance was observed in RSV infected F508del CFBE41o- cells, while the monolayer integrity of RSV infected wt CFTR CFBE41o- cells remained stable. RSV replication was necessary to disrupt F508del CFBE41o- monolayers as UV-irradiated and heat killed RSV had no effect on monolayer integrity, with an earlier and much more pronounced peak in RSV titer noted in F508del relative to wt CFTR-expressing cells. RSV infection of wt CFBE41o- monolayers also resulted in blunting of CFTR response. These findings identify an enhanced sensitivity of CFBE41o- cells expressing F508del CFTR to RSV infection, replication and monolayer disruption independent of the cellular immune response, and provide a novel mechanism by which cystic fibrosis airway epithelia are susceptible to RSV-dependent injury.

  16. Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.

    PubMed

    Xiang, He-ping; Geng, Xiao-ping; Ge, Wei-wei; Li, He

    2011-11-01

    Cell cycle checkpoint kinase 2 (CHEK2) gene has been inconsistently associated with colorectal cancer (CRC), particularly the 1100delC variant. To generate large-scale evidence on whether the CHEK2 1100delC variant is associated with CRC susceptibility we have conducted a meta-analysis. Data were collected from the following electronic databases: PubMed, Excerpta Medica Database and Chinese Biomedical Literature Database, with the last report up to November 2010. The odds ratio (OR) and its 95% confidence interval (95% CI) were used to assess the strength of association. We evaluated the contrast of carriers versus non-carriers. Meta-analysis was performed in a fixed/random effect model by using the software Review Manager 4.2. A total of six studies including 4194 cases and 10,010 controls based on the search criteria were involved in this meta-analysis. A significant association of the CHEK2 1100delC variant with unselected CRC was found (OR=2.11, 95% CI=1.41-3.16, P=0.0003). We also found an association of the CHEK2 1100delC variant with familial CRC (OR=2.80, 95% CI=1.74-4.51, P<0.0001). However, the association was not established for sporadic CRC (OR=1.45, 95% CI=0.49-4.30, P=0.50). This meta-analysis demonstrates that the CHEK2 1100delC variant may be an important CRC-predisposing gene, which increases CRC risk. Copyright © 2011. Published by Elsevier Ltd.

  17. Accounting for the Impact of Conservation on Human Well-Being

    PubMed Central

    Milner-Gulland, EJ; Mcgregor, JA; Agarwala, M; Atkinson, G; Bevan, P; Clements, T; Daw, T; Homewood, K; Kumpel, N; Lewis, J; Mourato, S; Palmer Fry, B; Redshaw, M; Rowcliffe, JM; Suon, S; Wallace, G; Washington, H; Wilkie, D

    2014-01-01

    Conservationists are increasingly engaging with the concept of human well-being to improve the design and evaluation of their interventions. Since the convening of the influential Sarkozy Commission in 2009, development researchers have been refining conceptualizations and frameworks to understand and measure human well-being and are starting to converge on a common understanding of how best to do this. In conservation, the term human well-being is in widespread use, but there is a need for guidance on operationalizing it to measure the impacts of conservation interventions on people. We present a framework for understanding human well-being, which could be particularly useful in conservation. The framework includes 3 conditions; meeting needs, pursuing goals, and experiencing a satisfactory quality of life. We outline some of the complexities involved in evaluating the well-being effects of conservation interventions, with the understanding that well-being varies between people and over time and with the priorities of the evaluator. Key challenges for research into the well-being impacts of conservation interventions include the need to build up a collection of case studies so as to draw out generalizable lessons; harness the potential of modern technology to support well-being research; and contextualize evaluations of conservation impacts on well-being spatially and temporally within the wider landscape of social change. Pathways through the smog of confusion around the term well-being exist, and existing frameworks such as the Well-being in Developing Countries approach can help conservationists negotiate the challenges of operationalizing the concept. Conservationists have the opportunity to benefit from the recent flurry of research in the development field so as to carry out more nuanced and locally relevant evaluations of the effects of their interventions on human well-being. Consideración del Impacto de la Conservación sobre el Bienestar Humano Resumen Los conservacionistas cada vez más se comprometen con el concepto del bienestar humano para mejorar el diseño y la evaluación de sus intervenciones. Desde la convención de la influyente Comisión Sarkozy en 2009, los investigadores del desarrollo han estado refinando las conceptualizaciones y los marcos de trabajo para entender y medir el bienestar humano y están comenzando a convergir con un entendimiento común de cuál es la mejor forma de hacer esto. En la conservación el término bienestar humano tiene un uso amplio, pero existe la necesidad de la orientación en su operación para medir los impactos de las intervenciones de la conservación sobre la gente. Presentamos un marco de trabajo para entender el bienestar humano que podría ser útil particularmente en la conservación. El marco de trabajo incluye tres condiciones: cumplir con las necesidades, perseguir objetivos y experimentar una calidad satisfactoria de vida. Resumimos algunas de las complejidades involucradas en la evaluación de los efectos del bienestar de las intervenciones de la conservación con el entendimiento de que el bienestar varía entre la gente, en el tiempo y con las prioridades del evaluador. Los retos clave para la investigación de los impactos del bienestar de las intervenciones de la conservación incluyen la necesidad de crear una colección de estudios de caso para trazar lecciones generalizables: hacer uso del potencial de la tecnología moderna para apoyar la investigación del bienestar; y contextualizar espacial y temporalmente las evaluaciones de los impactos de la conservación sobre el bienestar dentro del marco más amplio del cambio social. Existen caminos que atraviesan la confusión que rodea al término bienestar, y los marcos de trabajo existentes, como el del acercamiento de Bienestar en Países en Desarrollo, pueden ayudar a los conservacionistas a negociar los obstáculos de la operación del concepto. Los conservacionistas tienen la oportunidad de beneficiarse del frenesí reciente de investigación en el campo del desarrollo para así realizar evaluaciones más matizadas y relevantes localmente de los efectos de sus intervenciones sobre el bienestar humano. PMID:24641551

  18. Establishment of Lipolexis oregmae (Hymenoptera: Aphidiidae) in a classical biological control program directed against the brown citrus aphid (Homoptera: Aphididae) in Florida

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Persad, A.B.; Hoy, M.A.; Ru Nguyen

    The parasitoid Lipolexis oregmae Gahan (introduced as L. scutellaris Mackauer) was imported from Guam, evaluated in quarantine, mass reared, and released into citrus groves in Florida in a classical biological control program directed against the brown citrus aphid, Toxoptera citricida Kirkaldy. Releases of 20,200, 12,100, and 1,260 adults of L. oregmae were made throughout Florida during 2000, 2001, and 2002, respectively. To determine if L. oregmae had successfully established, surveys were conducted throughout the state beginning in the summer of 2001 and continuing through the summer of 2003. Parasitism during 2001 and 2002 was evaluated by holding brown citrus aphidsmore » in the laboratory until parasitoid adults emerged. Lipolexis oregmae was found in 10 sites in 7 counties and 4 sites in 3 counties with parasitism rates ranging from 0.7 to 3.3% in 2001 and 2002, respectively. Laboratory tests indicated that high rates of mortality occurred if field-collected parasitized aphids were held in plastic bags, so a molecular assay was used that allowed immature L. oregmae to be detected within aphid hosts immediately after collection. The molecular assay was used in 2003 with the brown citrus aphids and with other aphid species collected from citrus, weeds, and vegetables near former release sites; immatures of L. oregmae were detected in black citrus aphids, cowpea aphids, spirea aphids, and melon aphids, as well as in the brown citrus aphid, in 4 of 8 counties sampled, with parasitism ranging from 2.0 to 12.9%, indicating that L. oregmae is established and widely distributed. Samples taken in Polk County during Oct 2005 indicated that L. oregmae has persisted. The ability of L. oregmae to parasitize other aphid species on citrus, and aphids on other host plants, enhances the ability of L. oregmae to persist when brown citrus aphid populations are low. (author) [Spanish] El parasitoide Lipolexis oregmae Gahan (introducido como L. scutellaris Mackauer) fue importado de Guam, evaluado en cuarentena, criado en masa y liberado en huertos de citricos en un programa de control biologico clasico dirigido contra el afido pardo de citricos, Toxoptera citricida Kirkaldy. Se hicieron liberaciones de 20,200, 12,100, y 1,260 adultos de L. oregmae a traves de la Florida durante los anos de 2000, 2001, y 2002, respectivamente. Para determinar si L. oregmae ha logrado en establecer, se realizaron sondeos a traves del estado empezando en el verano del 2001 y continuando hasta el final del verano del 2003. El parasitismo durante 2001 y 2002 fue evaluado con el mantenimiento de individuos del afido pardo de los citricos en el laboratorio hasta que los adultos emergieron. Lipolexis oregmae fue encontrado en 10 sitios en 7 condados y con tasas de parasitismo en 4 sitios en 3 condados entre 0.7 a 3.3% en el 2001 y 2002, respectivamente. Las pruebas del laboratorio indicaron que las tasas altas de mortalidad fueron posibles si los afidos con parasitos recolectados en el campo fueron mantenidos en bolsas plasticas, entonces un ensayo molecular fue usado con lo que permitio la deteccion de inmaduros de L. oregmae dentro de los hospederos de afidos inmediatamente despues de la recoleccion. El ensayo molecular fue usado en el 2003 con individuos del afido pardo de los citricos y con otras especies de afidos recolectados sobre citricos, malezas y hortalizas cerca de los sitios donde los parasitoides fueron liberados anteriormente; inmaduros de L. oregmae fueron detectados en individuos del afido negro de los citricos, el afido del caupi, el afido spirea y el afido del melon, ademas del afido pardo de los citricos en 4 de los 8 condados muestreados, con la tasa del parasitismo entre 2.0 a12.9%, indicando que L. oregmae estaba estabecido y ampliamente distribuido. Las muestras tomadas en el Condado de Polk durante octobre del 2005 indicaron que L. oregmae ha persistido. La capacidad de L. oregmae para parasitar otras especies de afidos sobre citricos y otros afidos sobre otras plantas hospederas, incrementa la capacidad de L. oregmae para persistir cuando las poblaciones del afido pardo de los citricos estan bajas. (author)« less

  19. Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.

    PubMed

    Massink, Maarten P G; Kooi, Irsan E; Martens, John W M; Waisfisz, Quinten; Meijers-Heijboer, Hanne

    2015-11-09

    CHEK2*1100delC is a moderate-risk breast cancer susceptibility allele with a high prevalence in the Netherlands. We performed copy number and gene expression profiling to investigate whether CHEK2*1100delC breast cancers harbor characteristic genomic aberrations, as seen for BRCA1 mutated breast cancers. We performed high-resolution SNP array and gene expression profiling of 120 familial breast carcinomas selected from a larger cohort of 155 familial breast tumors, including BRCA1, BRCA2, and CHEK2 mutant tumors. Gene expression analyses based on a mRNA immune signature was used to identify samples with relative low amounts of tumor infiltrating lymphocytes (TILs), which were previously found to disturb tumor copy number and LOH (loss of heterozygosity) profiling. We specifically compared the genomic and gene expression profiles of CHEK2*1100delC breast cancers (n = 14) with BRCAX (familial non-BRCA1/BRCA2/CHEK2*1100delC mutated) breast cancers (n = 34) of the luminal intrinsic subtypes for which both SNP-array and gene expression data is available. High amounts of TILs were found in a relatively small number of luminal breast cancers as compared to breast cancers of the basal-like subtype. As expected, these samples mostly have very few copy number aberrations and no detectable regions of LOH. By unsupervised hierarchical clustering of copy number data we observed a great degree of heterogeneity amongst the CHEK2*1100delC breast cancers, comparable to the BRCAX breast cancers. Furthermore, copy number aberrations were mostly seen at low frequencies in both the CHEK2*1100delC and BRCAX group of breast cancers. However, supervised class comparison identified copy number loss of chromosomal arm 1p to be associated with CHEK2*1100delC status. In conclusion, in contrast to basal-like BRCA1 mutated breast cancers, no apparent specific somatic copy number aberration (CNA) profile for CHEK2*1100delC breast cancers was found. With the possible exception of copy number loss of chromosomal arm 1p in a subset of tumors, which might be involved in CHEK2 tumorigenesis. This difference in CNAs profiles might be explained by the need for BRCA1-deficient tumor cells to acquire survival factors, by for example specific copy number aberrations, to expand. Such factors may not be needed for breast tumors with a defect in a non-essential gene such as CHEK2.

  20. Interaction between CYP1A2-T2467DELT polymorphism and smoking in adenocarcinoma and squamous cell carcinoma of the lung.

    PubMed

    Pavanello, Sofia; B'chir, Fatma; Pulliero, Alessandra; Saguem, Saâd; Ben Fraj, Radhia; El Aziz Hayouni, Abed; Clonfero, Erminio; Mastrangelo, Giuseppe

    2007-09-01

    This study aimed to identify new genetic characteristics contributing to individual susceptibility to smoke-induced lung cancer. Despite functional evidence of a possible role of cytochrome P450 1A2 (CYP1A2) in lung cancer susceptibility, no studies have evaluated the influence of CYP1A2 genotypes on lung cancer risk. We investigated the interaction between CYP1A2-T2467delT (allele*1D) polymorphism and smoking in Tunisian lung cancer cases (n=101 male smokers) separately for the histological types squamous cell carcinoma (SCC) (n=60) and adenocarcinoma (n=41), and in controls (n=98 male smokers) using a case-only study design. A significant interaction between CYP1A2-T/delT or delT/delT genotypes and tobacco consumption (pack-years) adjusted for age was evident (OR (95% CI) 7.78 (1.52-42.8)) in the SCC cases who smoked relatively less (< or =33 pack-years, I quartile value), but not in adenocarcinoma and controls. Our results suggest that CYP1A2-T2467delT polymorphism has an important role in lung carcinogenesis, especially SCC, among smokers.

  1. Matrine in association with FD-2 stimulates F508del-cystic fibrosis transmembrane conductance regulator activity in the presence of corrector VX809

    PubMed Central

    Marengo, Barbara; Speciale, Andrea; Senatore, Lisa; Garibaldi, Silvano; Musumeci, Francesca; Nieddu, Erika; Pollarolo, Benedetta; Pronzato, Maria Adelaide; Schenone, Silvia; Mazzei, Mauro; Domenicotti, Cinzia

    2017-01-01

    Cystic fibrosis is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and the predominant mutation is termed Phe508del (F508del). Therapy for F508del-CFTR patients is based on the use of Orkambi®, a combination of VX809 and VX770. However, though Orkambi leads to an improvement in the lung function of patients, a progressive reduction in its efficacy has been observed. In order to overcome this effect, the aim of the present study was to investigate the role of matrine and the in-house compound FD-2 in increasing the action of VX809 and VX770. Fischer rat thyroid cells overexpressing F508del-CFTR were treated with matrine, VX809 (corrector) and/or with a number of potentiators (VX770, FD-1 and FD-2). The results demonstrated that matrine was able to stimulate CFTR activity and, in association with FD-2, increased the functionality of the channel in the presence of VX809. Based on these results, it may be hypothesized that FD-2 may be a novel and more effective potentiator compared with VX770. PMID:29039559

  2. [Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing].

    PubMed

    Bai, Ru-Feng; Jiang, Li-Zhe; Zhang, Zhong; Shi, Mei-Sen

    2013-12-01

    To study the genetic diversities of 30 insertion-deletion (InDel) polymorphisms loci of Han population in Beijing, and to evaluate their forensic application, 210 unrelated healthy individuals of Han population in Beijing were investigated to determine the distributions of allele frequencies by using Investigator DIP system. The PCR products were detected with ABI 3130 XL Genetic Analyzer. Forensic parameters were calculated with relevant statistical analysis software. As a result, after the Bonferroni correction at a 95% significance level, there were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium between the loci. The power of discrimination (DP) varies between 0.2690 (HLD118) and 0.6330 (HLD45), and the combined discrimination power (TDP) for the 30 InDel loci is 0.999999999985. The combined power of exclusion was 0.98771049 in trio cases (CPE(trio)) and 0.94579456 in duo cases (CPE(duo)). The parentage testing of 32 cases revealed no mutations happened to 30 InDel loci. Multiplex detection of the 30 InDel loci revealed a highly polymorphic genetic distribution in Beijing Han population, which represents a complementary tool in human identification studies, especially in challenging DNA cases.

  3. Design, aerodynamics and autonomy of the DelFly.

    PubMed

    de Croon, G C H E; Groen, M A; De Wagter, C; Remes, B; Ruijsink, R; van Oudheusden, B W

    2012-06-01

    One of the major challenges in robotics is to develop a fly-like robot that can autonomously fly around in unknown environments. In this paper, we discuss the current state of the DelFly project, in which we follow a top-down approach to ever smaller and more autonomous ornithopters. The presented findings concerning the design, aerodynamics and autonomy of the DelFly illustrate some of the properties of the top-down approach, which allows the identification and resolution of issues that also play a role at smaller scales. A parametric variation of the wing stiffener layout produced a 5% more power-efficient wing. An experimental aerodynamic investigation revealed that this could be associated with an improved stiffness of the wing, while further providing evidence of the vortex development during the flap cycle. The presented experiments resulted in an improvement in the generated lift, allowing the inclusion of a yaw rate gyro, pressure sensor and microcontroller onboard the DelFly. The autonomy of the DelFly is expanded by achieving (1) an improved turning logic to obtain better vision-based obstacle avoidance performance in environments with varying texture and (2) successful onboard height control based on the pressure sensor.

  4. Increased progesterone production in cumulus-oocyte complexes of female mice sired by males with the Y-chromosome long arm deletion and its potential influence on fertilization efficiency.

    PubMed

    Kotarska, Katarzyna; Galas, Jerzy; Przybyło, Małgorzata; Bilińska, Barbara; Styrna, Józefa

    2015-02-01

    It was revealed previously that B10.BR(Y(del)) females sired by males with the Y-chromosome long arm deletion differ from genetically identical B10.BR females sired by males with the intact Y chromosome. This is interpreted as a result of different epigenetic information which females of both groups inherit from their fathers. In the following study, we show that cumulus-oocyte complexes ovulated by B10.BR(Y(del)) females synthesize increased amounts of progesterone, which is important sperm stimulator. Because their extracellular matrix is excessively firm, the increased progesterone secretion belongs presumably to factors that compensate this feature enabling unchanged fertilization ratios. Described compensatory mechanism can act only on sperm of high quality, presenting proper receptors. Indeed, low proportion of sperm of Y(del) males that poorly fertilize B10.BR(Y(del)) oocytes demonstrates positive staining of membrane progesterone receptors. This proportion is significantly higher for sperm of control males that fertilize B10.BR(Y(del)) and B10.BR oocytes with the same efficiency. © The Author(s) 2014.

  5. [Genotyping of BRCA1, BRCA2 and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips].

    PubMed

    Nasedkina, T V; Gromyko, O E; Emel'ianova, M A; Ignatova, E O; Kazubskaia, T P; Portnoĭ, S M; Zasedatelev, A S; Liubchenko, L N

    2014-01-01

    Germline mutations of BRCA1/2 genes cause the predisposition of their carriers to breast or/and ovary cancers (BC or/and OC) during the lifetime. Identification of these mutations is a basis of molecular diagnosis for BC susceptibility. Rapid genotyping technique using microarrays for identification of BRCA1 185delAG, 300T>G, 4153delA, 5382insC mutations and 4158 A>G sequence variant; BRCA2 695insT and 6174delT mutations; 1100delC mutation in CHEK2 gene was applied for 412 randomly collected breast cancer samples from the central region of European area of Russia. In 25 (6.0%) patients (6.0%) BC was associated with other tumours: OC, cervical cancer, colorectal cancer etc. BRCA1/2 and CHEK2 mutations were found in 33 (8.0%) BC patients. The most frequent mutation was BRCA1 5382insC, occurred in 16 (3.9%) BC patients, and CHEK2 1100delC, revealed in 7 (1.7%) BC patients. An application of diagnostic BC-microarray for genetic testing of BRCA1/2 and CHEK2 founder mutations has been discussed.

  6. Egg distribution and sampling of Diaprepes abbreviatus (Coleoptera: Curculionidae) on silver buttonwood

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Pena, J.E.; Mannion, C.; Amalin, D.

    2007-03-15

    Taylor's power law and Iwao's patchiness regression were used to analyze spatial distribution of eggs of the Diaprepes root weevil, Diaprepes abbreviatus (L.), on silver buttonwood trees, Conocarpus erectus, during 1997 and 1998. Taylor's power law and Iwao's patchiness regression provided similar descriptions of variance-mean relationship for egg distribution within trees. Sample size requirements were determined. Information presented in this paper should help to improve accuracy and efficiency in sampling of the weevil eggs in the future. (author) [Spanish] Se utilizaron la ley de Taylor y la regresion de Iwao para analizar la distribucion de los huevos del picudo Diaprepes,more » Diaprepes abbreviatus (L.) en arboles de boton plateado, Conocarpus erectus. Los estudios fueron realizados durante 1997 y 1998. Tanto la ley de Taylor como la regression de Iwao dieron resultados similares en cuanto a la relacion de la varianza y el promedio para la distribucion de huevos del picudo en los arboles. Se determinaron los requerimentos del tamano del numero de muestras. En un futuro, la informacion que se presenta en este articulo puede ayudar a mejorar la eficiencia del muestreo de huevos de este picudo. (author)« less

  7. DelPhiPKa web server: predicting pKa of proteins, RNAs and DNAs.

    PubMed

    Wang, Lin; Zhang, Min; Alexov, Emil

    2016-02-15

    A new pKa prediction web server is released, which implements DelPhi Gaussian dielectric function to calculate electrostatic potentials generated by charges of biomolecules. Topology parameters are extended to include atomic information of nucleotides of RNA and DNA, which extends the capability of pKa calculations beyond proteins. The web server allows the end-user to protonate the biomolecule at particular pH based on calculated pKa values and provides the downloadable file in PQR format. Several tests are performed to benchmark the accuracy and speed of the protocol. The web server follows a client-server architecture built on PHP and HTML and utilizes DelPhiPKa program. The computation is performed on the Palmetto supercomputer cluster and results/download links are given back to the end-user via http protocol. The web server takes advantage of MPI parallel implementation in DelPhiPKa and can run a single job on up to 24 CPUs. The DelPhiPKa web server is available at http://compbio.clemson.edu/pka_webserver. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  8. Taos Smart Growth Implementation Assistance: Concepts for the Paseo del Pueblo Sur Corridor

    EPA Pesticide Factsheets

    This report describes a technical assistance project with Taos, NM, to help make development along State Highway 68, the Paseo del Pueblo Sur commercial corridor, economically stronger and more attractive.

  9. Introduction to Kinetic Model Equations

    DTIC Science & Technology

    2011-01-01

    application . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24 ∗Dipartimento di Matematica del Politecnico di Milano Piazza Leonardo da Vinci 32...NUMBER 7. PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Dipartimento di Matematica del Politecnico di Milano Piazza Leonardo da Vinci 32, 20133 Milano

  10. Total Petroleum Hydrocarbons (TPH): ToxFAQs

    MedlinePlus

    ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Page last reviewed: February 4, 2014 Page ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Contact Us: Agency for Toxic Substances and ...

  11. Outbreak of Paratyphoid Fever Among Naval Personnel in Peru (Brote de Fiebre Paratifoidea Entre Personal de la Marina Del Peru.)

    DTIC Science & Technology

    1992-01-01

    son menosde 2Okniquecaiusania nvar comun Cs la tifoidea cldsica producida por S parte de las infecciones hunanas La fiebre Isv’lht la parat-foidea. par...TITLE (Include Secunty Clasifi4tin) Brote de Fiebre Parutifoidea Entre Personal de la Marina del Peru 1.PERSON4AL AUTHORCS) Pazzagllia G; Wgnall FS...CLASSIFIATIO F THIS PAGE All othe~redmtons areobolete. ZINCLASSIITIED Best Avai~lable Copy BROTE Dl FIEBRE PARATIFOIDEA ENTRE PERSONAL DE1 LA MARINA DEL PERU G

  12. El Mundo del Nino con Trastornos del Desarrollo: Un Manual para Padres con un Directorio de Servicios que Existen para las Familias del Condado de Lake, Illinois (The World of the Child with Developmental Disorders: A Parents Manual with a Directory of Services for Families in Lake County, Illinois).

    ERIC Educational Resources Information Center

    Suelzle, Marijean; Keenan, Vincent

    Intended for parents of developmentally disabled children, the handbook, in Spanish, provides information on service needs and services available in Lake County, Illinois. Section I focuses on life course planning with sections of diagnosis and assessment, professionals involved with special education, education for the developmentally disabled,…

  13. Unusual Bloom of Tetraselmis sp. in the Valparaiso Bay, Chile

    DTIC Science & Technology

    2012-01-01

    Universidad Técnica Federico Santa María, Sede Viña del Mar, Chile (33º02`05.50``S; 71º35`44.54``O). Los datos de magnitud – dirección del viento por la...λ (nm) 372 Gayana Bot. 69(2), 2012 AGRADECIMIENTOS A Gloria Collantes por identificación del género Tetraselmis. Universidad Técnica Federico Santa...Tetraselmis sp. pudo ser el factor excluyente de las especies de diatomeas, permitiendo alcanzar una alta densidad celular, debido al rápido consumo

  14. Archivo de placas astrométricas del Observatorio de La Plata

    NASA Astrophysics Data System (ADS)

    di Sisto, R.; Orellana, R. B.

    Se ha realizado una base de datos con las placas fotográficas obtenidas con el Astrográfico del Observatorio de La Plata. Se han clasificado un total de 3000 placas obtenidas para asteroides y cometas. El acceso a la base de datos se hará por FTP y la misma contendrá la siguiente información: fecha y tiempo de exposición, coordenadas del centro de placa, tipo de emulsión fotográfica, estado de la placa, objeto fotografiado.

  15. The Role of mDia1 in the Aberrant Innate Immune Signaling in del(5q) Myelodysplastic Syndromes

    DTIC Science & Technology

    2017-10-01

    especially in cells with sensitized innate immune signaling8,9,20. To analyze whether treatment of DAMPs could induce the over-production of pro...AWARD NUMBER: W81XWH-15-1-0335 TITLE: The Role of mDia1 in the Aberrant Innate Immune Signaling in del(5q) Myelodysplastic Syndromes...TITLE AND SUBTITLE 5a. CONTRACT NUMBER WThe Role of mDia1 in the Aberrant Innate Immune Signaling in del(5q) Myelodysplastic Syndromes 5b. GRANT

  16. Guia del Proceso del IFSP de Colorado: Conexiones para la Ninez Temprana, Iniciativa Infantil de Colorado Parte C del Acta de Educacion para Individuos con Desabilidades (Colorado Guidelines for the IFSP Process: Early Childhood Connections, Colorado's Infant/Toddler Initiative for Part C of the Individuals with Disabilities Education Act).

    ERIC Educational Resources Information Center

    Miller, Jerri; Petersen, Sandy

    This booklet for Spanish-speaking parents of young children with disabilities describes Colorado's Individualized Family Service Plan (IFSP) process. It explains guidelines, shares family stories and reflections for families and care providers, and the describes the values that drive the IFSP process in Colorado. Information is provided on…

  17. PubMed

    Contreras, Kateir; Vargas, María José; García, Paola; González, Camilo A; Rodríguez, Patricia; Castañeda-Cardona, Camilo; Otálora-Esteban, Margarita; Rosselli, Diego

    2018-03-15

    Introducción. El citomegalovirus es la causa más frecuente de infección en pacientes con trasplante renal. Existen dos estrategias de similar efectividad para prevenirlo: la profilaxis universal con valganciclovir durante 90 días o el tratamiento anticipado verificando la carga viral semanal y aplicándolo solo si esta es positiva.Objetivo. Determinar cuál de estas dos estrategias sería más costo-efectiva en pacientes de riesgo intermedio en Colombia.Materiales y métodos. Se diseñó un árbol de decisiones bajo la perspectiva del tercer pagador considerando únicamente los costos médicos directos en pesos colombianos (COP) del 2014 durante un periodo de un año en una población de pacientes con riesgo intermedio para citomegalovirus (donante positivo y receptor positivo, o donante negativo y receptor positivo). Las probabilidades de transición se extrajeron de los estudios clínicos y se validaron con expertos mediante el método Delphi.Los costos de los procedimientos se basaron en el manual tarifario ISS 2001, con un incremento del 33 % a partir del índice de precios al consumidor (IPC) en salud de 2014, en tanto que los de los medicamentos se extrajeron de las circulares del Ministerio de Salud y del Sistema de Información de Medicamentos (Sismed).Resultados. La profilaxis universal con valganciclovir resultó ser menos costosa y se asoció con una menor probabilidad de infección. El costo promedio del primer año de tratamiento anticipado sería de COP$ 30'961.290, mientras que el universal sería de COP$ 29'967.834, es decir, un costo 'incremental' de COP$ 993.456.Conclusiones. Para los pacientes de riesgo intermedio con trasplante renal en Colombia, la profilaxis universal es la mejor estrategia por ser menos costosa y reducir el riesgo de infección.

  18. Visiting the Gödel universe.

    PubMed

    Grave, Frank; Buser, Michael

    2008-01-01

    Visualization of general relativity illustrates aspects of Einstein's insights into the curved nature of space and time to the expert as well as the layperson. One of the most interesting models which came up with Einstein's theory was developed by Kurt Gödel in 1949. The Gödel universe is a valid solution of Einstein's field equations, making it a possible physical description of our universe. It offers remarkable features like the existence of an optical horizon beyond which time travel is possible. Although we know that our universe is not a Gödel universe, it is interesting to visualize physical aspects of a world model resulting from a theory which is highly confirmed in scientific history. Standard techniques to adopt an egocentric point of view in a relativistic world model have shortcomings with respect to the time needed to render an image as well as difficulties in applying a direct illumination model. In this paper we want to face both issues to reduce the gap between common visualization standards and relativistic visualization. We will introduce two techniques to speed up recalculation of images by means of preprocessing and lookup tables and to increase image quality through a special optimization applicable to the Gödel universe. The first technique allows the physicist to understand the different effects of general relativity faster and better by generating images from existing datasets interactively. By using the intrinsic symmetries of Gödel's spacetime which are expressed by the Killing vector field, we are able to reduce the necessary calculations to simple cases using the second technique. This even makes it feasible to account for a direct illumination model during the rendering process. Although the presented methods are applied to Gödel's universe, they can also be extended to other manifolds, for example light propagation in moving dielectric media. Therefore, other areas of research can benefit from these generic improvements.

  19. Adaptación al español y validación de criterio de una escala para la tamización de problemas emocionales y del comportamiento en la primera infancia.

    PubMed

    Cano, Luz Helena; Acosta, María Natalia; Pulido, Adriana

    2018-05-01

    Introducción. La detección temprana del riesgo de problemas emocionales y del comportamiento en niños puede contribuir al desarrollo de estrategias que promuevan la salud mental desde la primera infancia. En Colombia no existe una herramienta validada para dicha detección.Objetivos. Seleccionar, adaptar y establecer la validez de criterio de una escala de tamización de problemas emocionales y del comportamiento en niños menores de seis años.Materiales y métodos. A partir de una revisión de la literatura y un consenso de expertos, se seleccionó la herramienta Early Childhood Screening Assessment (ECSA). Posteriormente, se llevó a cabo su adaptación lingüística y se determinó la validez de criterio mediante una curva de características de recibidor-operador (Receiver Operating Characteristic, ROC), y se la comparó con el cuestionario Child Behavior Checklist (CBCL 1,5-5). En el estudio participaron 206 cuidadores de niños entre el año y medio y los seis años de edad de la ciudad de Tunja y el municipio de Sopó.Resultados. La puntuación del ECSA presentó una buena correlación con la puntuación t total del CBCL 1,5-5 (ro de Spearman=0,75; p<0,01). La escala ECSA tuvo una sensibilidad de 86 % y una especificidad de 82 % al establecer un punto de corte de 24 para la población estudiada.Conclusión. En este primer estudio de adaptación y validación de la versión en español de la escala ECSA, se detectaron buenos valores de sensibilidad y especificidad para la tamización de problemas emocionales y del comportamiento en la primera infancia.

  20. The effect of the common c.2299delG mutation in USH2A on RNA splicing.

    PubMed

    Lenassi, Eva; Saihan, Zubin; Bitner-Glindzicz, Maria; Webster, Andrew R

    2014-05-01

    Recessive variants in the USH2A gene are an important cause of both Usher syndrome and nonsyndromic retinitis pigmentosa. A single base-pair deletion in exon 13 (c.2299delG, p.Glu767Serfs*21) is considered the most frequent mutation of USH2A. It is predicted to generate a premature termination codon and is presumed to lead to nonsense mediated decay. However the effect of this variant on RNA has not been formally investigated. It is not uncommon for exonic sequence alterations to cause aberrant splicing and the aim of the present report is to evaluate the effect of c.2299delG on USH2A transcripts. Nasal cells represent the simplest available tissue to study splicing defects in USH2A. Nasal brushing, RNA extraction from nasal epithelial cells and reverse transcription PCR were performed in five Usher syndrome patients who were homozygous for c.2299delG, two unaffected c.2299delG heterozygotes and seven control individuals. Primers to amplify between exons 12 and 15 and exons 10 and 14 were utilised. Significant variability was observed between different RT-PCR experiments. Importantly, in controls, PCR product of the expected size were amplified on all occasions (13/13 experiments); for patients this was true in only 4/14 experiments (Fisher exact test p = 0.0002). Bioinformatics tools predict the c.2299delG change to disrupt an exonic splicing enhancer and to create an exonic splicing silencer within exon 13. Here, we report an effect of the common c.2299delG mutation on splicing of exons 12 and 13 of USH2A. Future studies are expected to provide important insights into the contribution of this effect on the phenotype. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Biological and clinical characterization of recurrent 14q deletions in CLL and other mature B-cell neoplasms.

    PubMed

    Reindl, Lena; Bacher, Ulrike; Dicker, Frank; Alpermann, Tamara; Kern, Wolfgang; Schnittger, Susanne; Haferlach, Torsten; Haferlach, Claudia

    2010-10-01

    14q-deletions have been repeatedly described in mature B-cell neoplasms, but not yet characterized in a larger cohort. Based on chromosome banding analysis, the present study identified 47 del(14q) cases in 3054 mature B-cell neoplasms (1·5%) (chronic lymphocytic leukaemia [CLL]: 1·9%; CLL/prolymphocytic leukaemia [PL]: 9·0%; others: 0·2%). Interphase fluorescence in situ hybridization was performed with probes for 14q22.1, 14q24.1, 14q32.33, and IGH@ (14q32.3). The del(14q) had heterogeneous size but showed a breakpoint cluster at the centromeric site in 14q24.1 (62% of cases). At the telomeric side, the most frequent breakpoint was within the IGH@ locus (14q32.3) between IGH@ 3'-flanking and IGHV (IgVH) probes (45%). In 16 cases (34%), breakpoints occurred within 14q24.1 and 14q32.3. Eighty-one percent of del(14q) cases showed 1-3 additional cytogenetic alterations (in 45%, +12), and 56% were IGHV-unmutated. In all cases (16/16) with breakpoints in 14q24.1 and 14q32.3, a B-CLL immunophenotype was found. Clinical follow-up in 32 del(14q) patients was compared to 383 CLL and CLL/PL patients without del(14q). While 3-year-overall survival did not differ significantly, time to treatment was significantly shorter in the del(14q) cohort (21·0 months vs. 80·1 months, P = 0·015). In conclusion, the del(14q) is a rare recurrent alteration in diverse mature B-cell neoplasms, shows variable size but distinct clustering of breakpoints, and is associated with short time to treatment. © 2010 Blackwell Publishing Ltd.

  2. PubMed

    Valero Gaspar, Teresa; Del Pozo de la Calle, Susana; Ruiz Moreno, Emma; Ávila Torres, Osé Manuel; Varela-Moreiras, Gregorio; Cuadrado Vives, Carmen

    2016-11-29

    Introducción: a finales del siglo xx, no se conocía con precisión si la comida del comedor escolar contribuía adecuadamente a la dieta de la población infantil. Además, este servicio complementario no se contemplaba en el proyecto educativo del centro pese a considerarse fundamental en todas sus dimensiones.Objetivo: describir el origen y desarrollo del programa de comedores escolares de la Comunidad de Madrid (CM) en 15 años desde su implantación.Métodos: se elaboró una normativa a cumplir por las empresas de restauración, y que contemplaba aspectos nutricionales y de composición y variedad de los menús, que se utilizó en los concursos para acceder a la prestación del servicio de comedor escolar, publicados en los años 2001, 2002, 2005, 2009 y 2013. Además se realizaron visitas acreditadas a los centros sin previo aviso para verifi car el cumplimiento de la documentación aportada durante el concurso.Resultados: los criterios más actuales sobre programación y elaboración de menús escolares se recogen en el Pliego de Prescripciones Técnicas del año 2013 (C-504/001-2013). Un 92% de las empresas de restauración superaron los cinco concursos habidos en los 15 años de funcionamiento. Hasta el año 2014, se han realizado 755 visitas, revisándose un total de 574 centros.Conclusiones: el programa de comedores escolares de la CM, desde su implementación pionera en España, ha contribuido a la mejora del servicio complementario de comedor. En estos años se han ido incluyendo nuevos requisitos dietéticos y nutricionales que han logrado menús cada vez más ajustados a las recomendaciones de la población escolar.

  3. Transcendence, historicity and temporality of being elderly: nursing reflection-using Heidegger.

    PubMed

    Guerrero-Castañeda, Raúl Fernando; Prado, Marta Lenise do; Kempfer, Silvana Silveira; Vargas, Maria Guadalupe Ojeda

    2017-01-01

    The objective is to reflect on historicity and temporality as paths for the transcendence of being elderly, based on the phenomenological concepts of Martin Heiddeger. A review of the concepts of transcendence, historicity and temporality was carried out in the work of Martín Heidegger, integrating them in the perspective of nursing for the elderly. The transcendence of the elderly adult is feasible by accessing the temporality of self in the path of its historicity to arrive at the understanding of itself that he has achieved: transcending, which is but a process of the Being itself. Being is time in itself existing in the world, existence given by the encounter of the past (to have been), present and future (becoming), the same encounter that determines the historicity of the Being. The encounter has been consummated and the Being is transcendence, with the understanding of the Being itself as a supreme point. RESUMEN El objetivo es reflexionar en la historicidad y temporalidad como caminos para la trascendencia del ser adulto mayor, basado en los conceptos fenomenológicos de Martín Heiddeger. Se llevó a cabo una revisión de los conceptos de trascendencia, historicidad y temporalidad en la obra de Martín Heidegger, realizando su integración en la perspectiva de enfermería al adulto mayor. La trascendencia del ser adulto mayor es factible accediendo a la temporalidad del mismo en el camino de su historicidad para llegar a la comprensión de sí a la que ha llegado: trascendiendo, que no es sino un proceso del mismo ser. El ser es el tiempo en sí mismo existiendo en el mundo, existencia dada por el encuentro del pasado (haber sido), presente y futuro (devenir), mismo encuentro que determina la historicidad del ser. El encuentro se ha consumado y el ser es trascendencia, como punto supremo la comprensión del ser mismo.

  4. Obstáculos a la adherencia y retención en los sistemas de salud público y privado según pacientes y personal de salud

    PubMed Central

    Arístegui, Inés; Dorigo, Analía; Bofill, Lina; Bordatto, Alejandra; Lucas, Mar; Cabanillas, Graciela Fernández; Sued, Omar; Cahn, Pedro; Cassetti, Isabel; Weiss, Stephen; Jones., Deborah

    2016-01-01

    Resumen Introducción el Programa Nacional de Sida garantiza el acceso universal a los antirretrovirales, aun así las personas que reciben medicamentos a través del sistema público no logran obtener una carga viral indetectable en la misma proporción que los pacientes del sistema privado. Este estudio cualitativo tiene como objeto identificar los factores asociados a la adherencia y retención en la cascada de atención de VIH de los sistemas de salud público y privado de Buenos Aires, según las percepciones de pacientes y del personal de salud. Métodos se registraron datos cualitativos de 12 entrevistas semi-estructuradas a informantes clave y 4 grupos focales de pacientes y personal de salud tanto del sistema público como privado. Se codificaron y analizaron temas predeterminados sobre adherencia, utilizando el software QRS Nvivo9® de análisis de datos cualitativos. Resultados pacientes y personal de salud de ambos sistemas coinciden en la importancia del estigma asociado al VIH, la relación médicopaciente, la comunicación entre ambos y la división de responsabilidades en relación al tratamiento como aspectos fundamentales para la adherencia y retención en la cascada de atención. Se observan diferencias entre los sistemas en la forma en que algunos de estos aspectos actúan. Las barreras estructurales se presentan como principales obstáculos del sistema público. Discusión se resalta la necesidad de intervenciones focalizadas en la díada médico-paciente que considere las particularidades de cada sistema de atención para facilitar el compromiso del paciente en la adherencia. PMID:26878024

  5. Evaluation of HLA-G 14-bp ins/del and +3142G>C polymorphisms with susceptibility to recurrent spontaneous abortion.

    PubMed

    Hashemi, Mohammad; Mokhtari, Mojgan; Khazaeian, Safura; Bahari, Gholamreza; Rezaei, Maryam; Nakhaee, Alireza; Taheri, Mohsen

    2017-06-01

    HLA-G is critically important for successful implantation during pregnancy. Increasing evidence supposed that HLA-G plays a key role in tolerance of the semi-allogeneic graft in pregnancy by inhibiting the cytotoxic functions of T and NK cells. The present study aimed to evaluate the impact of HLA-G rs1063320 (+3142G>C) and 14-bp insertion (ins)/deletion (del) polymorphisms on recurrent spontaneous abortion (RSA). Genomic DNA from 93 RSA patients and 93 normal fertile women was isolated using the salting out method. Genotyping of HLA-G +3142G>C and 14-bp ins/del variants was done by polymerase chain reaction restriction fragment length polymorphism (PCR-RFP) and PCR method, respectively. The HLA-G +3142G>C polymorphism increased the risk of RSA in codominant (OR = 2.39, 95%CI = 1.27-4.49, p = 0.010, GC vs GG; OR = 3.28, 95%CI = 1.16-9.72, p = 0.040, CC vs GG) and dominant (OR = 2.52, 95%CI = 1.37-4.64, p = 0.004, GC + CC vs GG) tested inheritance models. HLA-G rs1063320 C allele was associated with increased risk of RSA (OR = 1.84, 95%CI = 1.20-2.83, p = 0.007). The del/del genotype as well as del allele of 14-bp ins/del variant increased that risk of RSA (OR = 3.02, 95%CI = 1.23-7.41, p = 0.025 and OR = 1.65, 95%CI = 1.09-2.50, p = 0.022, respectively). In summary, our results showed that HLA-G gene polymorphisms significantly increased the risk of RSA in a sample of the Iranian population. Copyright © 2017. Published by Elsevier B.V.

  6. Novel poly-uridine insertion in the 3'UTR and E2 amino acid substitutions in a low virulent classical swine fever virus.

    PubMed

    Coronado, Liani; Liniger, Matthias; Muñoz-González, Sara; Postel, Alexander; Pérez, Lester Josue; Pérez-Simó, Marta; Perera, Carmen Laura; Frías-Lepoureau, Maria Teresa; Rosell, Rosa; Grundhoff, Adam; Indenbirken, Daniela; Alawi, Malik; Fischer, Nicole; Becher, Paul; Ruggli, Nicolas; Ganges, Llilianne

    2017-03-01

    In this study, we compared the virulence in weaner pigs of the Pinar del Rio isolate and the virulent Margarita strain. The latter caused the Cuban classical swine fever (CSF) outbreak of 1993. Our results showed that the Pinar del Rio virus isolated during an endemic phase is clearly of low virulence. We analysed the complete nucleotide sequence of the Pinar del Rio virus isolated after persistence in newborn piglets, as well as the genome sequence of the inoculum. The consensus genome sequence of the Pinar del Rio virus remained completely unchanged after 28days of persistent infection in swine. More importantly, a unique poly-uridine tract was discovered in the 3'UTR of the Pinar del Rio virus, which was not found in the Margarita virus or any other known CSFV sequences. Based on RNA secondary structure prediction, the poly-uridine tract results in a long single-stranded intervening sequence (SS) between the stem-loops I and II of the 3'UTR, without major changes in the stem- loop structures when compared to the Margarita virus. The possible implications of this novel insertion on persistence and attenuation remain to be investigated. In addition, comparison of the amino acid sequence of the viral proteins E rns , E1, E2 and p7 of the Margarita and Pinar del Rio viruses showed that all non-conservative amino acid substitutions acquired by the Pinar del Rio isolate clustered in E2, with two of them being located within the B/C domain. Immunisation and cross-neutralisation experiments in pigs and rabbits suggest differences between these two viruses, which may be attributable to the amino acid differences observed in E2. Altogether, these data provide fresh insights into viral molecular features which might be associated with the attenuation and adaptation of CSFV for persistence in the field. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.

    PubMed

    Cenarro, Ana; Etxebarria, Aitor; de Castro-Orós, Isabel; Stef, Marianne; Bea, Ana M; Palacios, Lourdes; Mateo-Gallego, Rocío; Benito-Vicente, Asier; Ostolaza, Helena; Tejedor, Teresa; Martín, César; Civeira, Fernando

    2016-05-01

    The p.Leu167del mutation in the APOE gene has been associated with hyperlipidemia. Our objective was to determine the frequency of p.Leu167del mutation in APOE gene in subjects with autosomal dominant hypercholesterolemia (ADH) in whom LDLR, APOB, and PCSK9 mutations had been excluded and to identify the mechanisms by which this mutant apo E causes hypercholesterolemia. The APOE gene was analyzed in a case-control study. The study was conducted at a University Hospital Lipid Clinic. Two groups (ADH, 288 patients; control, 220 normolipidemic subjects) were included. We performed sequencing of APOE gene and proteomic and cellular experiments. To determine the frequency of the p.Leu167del mutation and the mechanism by which it causes hypercholesterolemia. In the ADH group, nine subjects (3.1%) were carriers of the APOE c.500_502delTCC, p.Leu167del mutation, cosegregating with hypercholesterolemia in studied families. Proteomic quantification of wild-type and mutant apo E in very low-density lipoprotein (VLDL) from carrier subjects revealed that apo E3 is almost a 5-fold increase compared to mutant apo E. Cultured cell studies revealed that VLDL from mutation carriers had a significantly higher uptake by HepG2 and THP-1 cells compared to VLDL from subjects with E3/E3 or E2/E2 genotypes. Transcriptional down-regulation of LDLR was also confirmed. p.Leu167del mutation in APOE gene is the cause of hypercholesterolemia in the 3.1% of our ADH subjects without LDLR, APOB, and PCSK9 mutations. The mechanism by which this mutation is associated to ADH is that VLDL carrying the mutant apo E produces LDLR down-regulation, thereby raising plasma low-density lipoprotein cholesterol levels.

  8. [Value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness].

    PubMed

    Sun, Xuejing; Xing, Xinli; He, Qingqing; Zhou, Lin; Zhang, Jing; Zhao, Qing; Hou, Huili; Xi, Zuoming

    2017-10-10

    To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness. In this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and c.IVS7-2A>G, and mtDNA 12SrRNA c.1494C>T and c.1555A>G. For couples who have both carried heterozygous mutations of the same gene, genetic counseling and prenatal diagnosis were provided. Among of the 4 336 individuals, 178 (4.06%) were found to carry a mutation. Mutation rate for c.235delC and c.299_300delAT of GJB2 gene, c.IVS7-2 A>G and c.2168 A>G of SLC26A4 gene, c.1555 A>G and c.1494 C>T of DNA 12S rRNA gene were 0.91%, 0.20%, 0.68%, 0.11%, 0.1% and 0.01%, respectively. For six couples who have both carried mutations of the same gene, all fetuses showed a normal karyotype, while DNA sequencing indicated that two fetuses have carried homozygous c.235delC mutation of the GJB2 gene, one carried a heterozygous c.235delC mutation of the GJB2 gene, one carried heterozygous mutation of GJB2 gene (c.299_300delAT), and two have carried a heterozygous mutation of c.IVS7-2A>G of the SLC26A4 gene. Pre-gestational screening for deafness gene mutation can facilitate avoidance the birth of affected children and has a great clinical value for the prevention and intervention of birth defect.

  9. Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosis*

    PubMed Central

    Coutinho, Cyntia Arivabeni de Araújo Correia; Marson, Fernando Augusto de Lima; Ribeiro, Antônio Fernando; Ribeiro, José Dirceu; Bertuzzo, Carmen Silvia

    2013-01-01

    OBJECTIVE: To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations. METHODS: This was a cross-sectional study involving 70 patients with CF. The mean age of the patients was 12.38 ± 9.00 years, 51.43% were female, and 94.29% were White. Mutation screening was performed with polymerase chain reaction (for F508del), followed by enzymatic digestion (for other mutations). Clinical analysis was performed on the basis of gender, age, ethnicity, pulmonary/gastrointestinal symptoms, and Shwachman-Kulczycki (SK) score. RESULTS: All of the patients showed pulmonary symptoms, and 8 had no gastrointestinal symptoms. On the basis of the SK scores, CF was determined to be mild, moderate, and severe in 22 (42.3%), 17 (32.7%), and 13 (25.0%) of the patients, respectively. There was no association between F508del mutation and disease severity by SK score. Of the 140 alleles analyzed, F508del mutation was identified in 70 (50%). Other mutations (G542X, G551D, R553X, R1162X, and N1303K) were identified in 12 (7.93%) of the alleles studied. In F508del homozygous patients with severe disease, the OR was 0.124 (95% CI: 0.005-0.826). CONCLUSIONS: In 50% of the alleles studied, the molecular diagnosis of CF was confirmed by identifying a single mutation (F508del). If we consider the analysis of the six most common mutations in the Brazilian population (including F508del), the molecular diagnosis was confirmed in 58.57% of the alleles studied. PMID:24310628

  10. Clinical efficacy of icotinib in lung cancer patients with different EGFR mutation status: a meta-analysis

    PubMed Central

    Xu, Ping; Xiang, Da-Xiong; Yang, Rui; Wei, Wei; Qu, Qiang

    2017-01-01

    Icotinib is a novel and the third listed epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs), which exerts a good anti-tumor efficacy on non-small cell lung cancer (NSCLC). The efficacy of EGFR-TKIs has been shown to be associated with the EGFR mutation status, especially exon 19 deletion (19Del) and exon 21 L858R mutation. Therefore, a meta-analysis was performed to assess the efficacy of icotinib in NSCLC patients harboring EGFR mutations (19Del or L858R) and wild type (19Del and L858R loci wild type). A total of 24 studies were included for comparing the objective response rate (ORR) in the EGFR wild type and mutant patients treated with icotinib. The ORRs of EGFR mutant patients (19Del or L858R) are better than those of EGFR wild type patients (OR = 7.03(5.09–9.71), P < 0.00001). The pooling ORs from 21 studies on the disease control rate (DCR) in EGFR mutant patients are better than those of EGFR wild type patients (OR = 10.54(5.72–19.43), P < 0.00001). Moreover, the ORRs of EGFR 19Del patients are better than those of EGFR L858R patients after pooling ORs of 12 studies (OR = 2.04(1.12–3.73), P = 0.019). However, there was no significant difference on DCRs of EGFR 19Del patients and those of EGFR L858R patients (OR = 2.01(0.94–4.32), P = 0.072). Our findings indicated that compared with EGFR wild type patients, EGFR mutant patients have better ORRs and DCRs after icotinib treatment; EGFR 19Del patients treated with icotinib have better ORRs than EGFR L858R patients. EGFR mutation status is a useful biomarker for the evaluation of icotinib efficacy in NSCLC patients. PMID:28430623

  11. Clinical efficacy of icotinib in lung cancer patients with different EGFR mutation status: a meta-analysis.

    PubMed

    Qu, Jian; Wang, Ya-Nan; Xu, Ping; Xiang, Da-Xiong; Yang, Rui; Wei, Wei; Qu, Qiang

    2017-05-16

    Icotinib is a novel and the third listed epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs), which exerts a good anti-tumor efficacy on non-small cell lung cancer (NSCLC). The efficacy of EGFR-TKIs has been shown to be associated with the EGFR mutation status, especially exon 19 deletion (19Del) and exon 21 L858R mutation. Therefore, a meta-analysis was performed to assess the efficacy of icotinib in NSCLC patients harboring EGFR mutations (19Del or L858R) and wild type (19Del and L858R loci wild type). A total of 24 studies were included for comparing the objective response rate (ORR) in the EGFR wild type and mutant patients treated with icotinib. The ORRs of EGFR mutant patients (19Del or L858R) are better than those of EGFR wild type patients (OR = 7.03(5.09-9.71), P < 0.00001). The pooling ORs from 21 studies on the disease control rate (DCR) in EGFR mutant patients are better than those of EGFR wild type patients (OR = 10.54(5.72-19.43), P < 0.00001). Moreover, the ORRs of EGFR 19Del patients are better than those of EGFR L858R patients after pooling ORs of 12 studies (OR = 2.04(1.12-3.73), P = 0.019). However, there was no significant difference on DCRs of EGFR 19Del patients and those of EGFR L858R patients (OR = 2.01(0.94-4.32), P = 0.072). Our findings indicated that compared with EGFR wild type patients, EGFR mutant patients have better ORRs and DCRs after icotinib treatment; EGFR 19Del patients treated with icotinib have better ORRs than EGFR L858R patients. EGFR mutation status is a useful biomarker for the evaluation of icotinib efficacy in NSCLC patients.

  12. [Not Available].

    PubMed

    Pacheco-Herrera, Javier Darío; Ramírez-Vélez, Robinson; Correa-Bautista, Jorge Enrique

    2016-06-30

    Objetivo: el presente estudio tuvo por objetivos: a) determinar los valores de referencia de la condición muscular mediante el índice general de fuerza (IGF); y b) estudiar si el IGF está asociado con indicadores de adiposidad en niños y adolescentes escolares de Bogotá, Colombia.Métodos: del total de 7.268 niños y adolescentes (9-17,9 años) evaluados en el estudio FUPRECOL, 4.139 (57%) fueron mujeres. Se evaluó el IGF como marcador del desempeño muscular a partir de la tipificación de las pruebas de fuerza prensil (FP) y salto de longitud (SL). El IGF se recodificó en cuartiles (Q), siendo el Q4 la posición con mejor valor del IGF. El índice de masa corporal (IMC), la circunferencia de cintura (CC), el índice cintura/talla (ICT) y el porcentaje de grasa corporal (% GC) por bioimpedancia eléctrica se midieron como marcadores de adiposidad.Resultados: la edad media de los evaluados fue 12,8 ± 2,3 años. Se aprecia una tendencia hacia un incremento del nivel de condición física muscular en los varones conforme aumenta la edad, y hacia la estabilidad o un ligero aumento en el caso de las mujeres. El IGF se relacionóinversamente con el ICT y % GC en los varones (r = -0,280, r = -0,327, p < 0,01), respectivamente. Los escolares ubicados en el Q4 del IGF presentaron menores valores en marcadores de adiposidad IMC, CC, ICT y % GC, p < 0,01, que su contraparte del Q1.Conclusión: se presentan valores de referencia del IGF a partir de la estandarización de los resultados obtenidos en la FP y SL. La evaluación de la fuerza muscular en edades tempranas permitirá implementar programas de prevención de riesgo cardiovascular y metabólico futuro.

  13. Hearing-loss-associated gene detection in neonatal intensive care unit.

    PubMed

    Yang, S M; Liu, Ying; Liu, C; Yin, A H; Wu, Y F; Zheng, X E; Yang, H M; Yang, J

    2018-02-01

    To investigate the frequency and mutation spectrum of hearing loss-associated gene mutation in Neonatal Intensive Care Unit (NICU). Neonates (n=2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss-associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2A > G, 2168 A > G) and mtDNA 12S rRNA(1555 A > G, 1494 C > T), were detected. There were 73 cases hearing-loss-associated gene mutation among 2305 cases, the mutation frequency was 3.1%, with 40 cases GJB2 (235del C) mutation (54.8%), 6 cases GJB2 (299 del AT) mutation (8.2%), 21 cases SLC26A4 (IVS 7-2 A > G) mutation (28.7%), 4 cases SLC26A4 (2168 A > G) mutation (5.5%), 2 cases of GJB2 (235del C) combined SLC26A4 (IVS 7-2 A > G, 2168 A > G) mutation (2.8%). Among 73 gene mutation cases, preterm neonates presented in 18 cases, accounting for 24.7% (18/73); hyperbilirubinemia in 13 cases, accounting for 17.8% (13/73); Torch Syndrome in 15 cases, with 12 cases CMV, 2 cases rubella, 1 case toxoplasm, respectively, totally accounting for 20.54% (15/73); neonatal pneumonia in 12 cases, accounting for 16.4% (12/73); birth asphyxia in 5 cases, accounting for 6.9% (5/73); sepsis in 5 cases, accounting for 6.9% (5/73); others in 5 cases, accounting for 6.8% (5/73) . The frequency of hearing loss-associated gene mutation was higher in NICU.There were hearing loss-associated gene mutations in the NICU, suggesting this mutation may complicate with perinatal high-risk factors.

  14. Acrodysostosis

    MedlinePlus

    ... Arkless-Graham; Acrodysplasia; Maroteaux-Malamut Images Anterior skeletal anatomy References Jones KL, Jones MC, Del Campo M. Other skeletal dysplasias. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, PA: Elsevier Saunders; 2013: ...

  15. ToxGuides: Quick Reference Pocket Guide for Toxicological Profiles

    MedlinePlus

    ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Get email updates To receive email updates ... Favorites Del.icio.us Digg Facebook Google Bookmarks Yahoo MyWeb Page last reviewed: January 21, 2015 Page ...

  16. A novel biological 'twin-father' temporal paradox of General Relativity in a Gödel universe - Where reproductive biology meets theoretical physics.

    PubMed

    Ashrafian, Hutan

    2018-03-01

    Several temporal paradoxes exist in physics. These include General Relativity's grandfather and ontological paradoxes and Special Relativity's Langevin-Einstein twin-paradox. General relativity paradoxes can exist due to a Gödel universe that follows Gödel's closed timelike curves solution to Einstein's field equations. A novel biological temporal paradox of General Relativity is proposed based on reproductive biology's phenomenon of heteropaternal fecundation. Herein, dizygotic twins from two different fathers are the result of concomitant fertilization during one menstrual cycle. In this case an Oedipus-like individual exposed to a Gödel closed timelike curve would sire a child during his maternal fertilization cycle. As a consequence of heteropaternal superfecundation, he would father his own dizygotic twin and would therefore generate a new class of autofraternal superfecundation, and by doing so creating a 'twin-father' temporal paradox. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Estudio multifrecuencia del medio interestelar cercano a HD 192281

    NASA Astrophysics Data System (ADS)

    Arnal, E. M.; Cappa, C.; Cichowolski, S.; Pineault, S.; St-Louis, N.

    Una de las causas que modifica la estructura y dinámica del medio interestelar es la acción que los vientos de las estrellas de gran masa ejercen sobre el mismo. En este trabajo, mediante el uso de datos interferométricos obtenidos en la banda de radio en la transición de 21-cm del Hidrógeno neutro y de imágenes de la emisión de continuo en las bandas de 408 y 1420 MHz, de imágenes HIRES del satélite IRAS en 60 y 100 micrones, y de observaciones de continuo obtenidas con radiotelescopios de disco simple en 2695, 4850 y 8350 MHz se ha realizado un estudio multifrecuencia de los efectos que los vientos estelares de HD 192281, una estrella de tipo espectral O5 Vn((f))p, han tenido sobre el medio interestelar que rodea a la misma.

  18. Estudio multifrecuencia del medio interestelar cercano a HD 192281

    NASA Astrophysics Data System (ADS)

    Arnal, E. M.; Cappa, C. E.; Cichowolski, S.; Pineault, S.; St-Louis, N.

    Una de las causas que modifica la estructura y dinámica del medio interestelar es la acción que los vientos de las estrellas de gran masa ejercen sobre el mismo. En este trabajo, mediante el uso de datos interferométricos obtenidos en la banda de radio en la transición de λ˜21-cm del hidrógeno neutro y de imágenes de la emisión de continuo en las bandas de 408 y 1420 MHz, de imágenes HIRES del satélite IRAS en 60 y 100μm, y de observaciones de continuo obtenidas con radiotelescopios de disco simple en 2695, 4850 y 8350 MHz se ha realizado un estudio multifrecuencia de los efectos que los vientos estelares de HD 192281, una estrella de tipo espectral O5,Vn((f))p, han tenido sobre el medio interestelar que rodea a la misma.

  19. The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.

    PubMed

    Lazea, Cecilia; Grigorescu-Sido, Paula; Popp, Radu; Legendre, Marie; Amselem, Serge; Al-Khzouz, Camelia; Bucerzan, Simona; Creţ, Victoria; Crişan, Mirela; Brad, Cristian

    2015-09-01

    To establish the frequency of the c.301_302 delAG mutation of the PROP1 gene in Romanian patients with multiple pituitary hormone deficiency (MPHD). Somatic assessment, hormonal test, bone age, magnetic resonance imaging of the pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 patients with familial form of MPHD and 19 patients with sporadic form of MPHD). The c.301_302delAG mutation was detected in the homozygous state in 10 patients belonging to 5 unrelated families (7 patients with familial history of MPHD and 3 patients with sporadic form of MPHD). Those 10 patients presented variable pituitary hormone deficiency and pituitary morphology. The c.301_302delAG homozygous genotype had a high frequency of 38% (10/26), reaching 100% (7/7) in group with familial cases of MPHD and 16% (3/19) in group with sporadic forms of MPHD.

  20. Mejoras en el apuntado del telescopio de 2,15 mts de CASLEO

    NASA Astrophysics Data System (ADS)

    Aballay, J. L.; Casagrande, A. R.; Pereyra, P. F.; Marún, A. H.

    Con el objeto de optimizar el funcionamiento del telescopio de 2,15 mts. de CASLEO, se están eliminando los motores de calar, de guía y mecánica asociada. Para ésto, se están diseñando dos electrónicas que gobernarán, solamente, el motor de slew y el de tracking. Con el control del motor de slew se realizarán las funciones de slew y calar, controlando desde una PC la placa que maneja las rampas de velocidad. De este modo, el movimiento será programado y por lo tanto, más suave y preciso. Con el control del motor de tracking, a través de un generador de frecuencias programable desde una PC, se proveerá los movimientos necesarios para el tracking y guía.

  1. [Tierra del Fuego: the scientific-political construction of exclusion and counter-image of the ideal city dweller].

    PubMed

    Nacach, Gabriela

    2012-01-01

    Due to its late incorporation into the national State, the social, economic and political setting of the Argentine province Tierra del Fuego differed from that of the rest of the national territory. In the construction of dependent otherness, objectifications and representations were imposed by state-related and non-state-related institutions, among other agencies. In this context, the Salesian mission of La Candelaria and Ushuaia's Jail for recidivists stand out as spaces in which biopolitics was concretised. The native population and criminals in Tierra del Fuego were those to be subjugated. The thesis of the extinction of the Indian and the simultaneous exaltation of the criminal as the subject of progress identified the scientific and political mechanisms by which the exclusion of certain social groups (Tierra del Fuego's indigenous population) and the inclusion of others (criminals) were regulated.

  2. [Strengths and future of the Revista Médica del Instituto Mexicano del Seguro Social].

    PubMed

    Fajardo-Dolci, Germán

    2014-01-01

    The journals of medicine arose as a communication tool more than 200 years ago. At the beginning, their nature was local; later, their aim was to spread medical information along the nation; and, finally, they sought to reach the world distribution. The Revista Médica del Instituto Mexicano del Seguro Social was published for the first time 52 years ago, and it has walked its way from local to international distribution. This journal has 23 000 subscribers, it is included in Medline and it reached a 0.112 SCImago Journal Rank in 2012. Its website receives around 200 000 visits monthly and 45 % are foreign visits. In the future, the peer review system is going to be strengthened, and the journal is going to offer audio, video, and applications to reinforce interactive participation between authors, readers in order to reach modernity and draw young new attention.

  3. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.

    PubMed

    Varon, R; Seemanova, E; Chrzanowska, K; Hnateyko, O; Piekutowska-Abramczuk, D; Krajewska-Walasek, M; Sykut-Cegielska, J; Sperling, K; Reis, A

    2000-11-01

    Nijmegen breakage syndrome (NBS) is a chromosomal instability disorder, clinically characterised by microcephaly, immunodeficiency, radiosensitivity and a very high predisposition to lymphoid malignancy. Recently, it was demonstrated that mutations in the NBS1 gene are responsible for NBS. Most of the NBS patients known so far are of Slav origin and carry a major founder mutation 657del5 in exon 6 of the NBS1 gene. In this study we estimated the prevalence of the 657del5 mutation in the Czech Republic, Poland and the Ukraine. We found an unexpectedly high carrier frequency of the 657del5 mutation (1/177) in the three Slav populations, a factor that may contribute to cancer frequency in those countries. In addition, we show that NBS patients are often diagnosed late and therefore receive inappropriate therapy.

  4. Consentimiento informado: una praxis dialogica para la investigacion

    PubMed Central

    Mondragon-Barrios, Liliana

    2009-01-01

    El consentimiento informado es un proceso, en el que una persona acepta participar en una investigation, conociendo los riesgos, beneficios, consecuencias o problemas que se puedan presenter durante el desarrollo de la misma. El objetivo de este trabajo es reunir las caracteristicas del proceso de consentimiento informado (PCI) pare que su discernimiento y cumplimiento posibilite el ejercicio etc° dialogico, reflexivo y responsable del investigador. Se presentan los resultados de una extensa revision de les elementos del PCI, desde sus cornponentes hasta su fundamento etico y legal, incluyendo los mites y realidades que existen sobre el formato de consentimiento informado come recurso legal de protection. El consentimiento informado no es un formato establecido que los investigadores repliquen, se trata de que la praxis del PCI sea una tarea cotidiana dentro de la investigation con seres humanos, como comunicaciOn deliberative y critica, responsable y comprometida entre dos agentes morales, investigador-investigado. PMID:19507477

  5. INCLUSIÓN DE LA ÉTICA Y BIOÉTICA EN LA FORMACIÓN DE PRE Y POSGRADO DEL CIRUJANO-DENTISTA EN PERÚ

    PubMed Central

    Rupaya, Carmen Rosa García

    2009-01-01

    Se revisan aspectos de la inclusión de la ética y bioética en la formación de pre y posgrado del cirujano-dentista en Perú. Desde el punto de vista de la formación del docente, se analiza la presencia de normatividad ética en la investigación científica que genera la universidad, así como los conocimientos y actitudes vinculados con la ética y bioética en la formación del odontólogo. Se concluye que es un compromiso fomentar un cambio de paradigma, a través de un movimiento masivo que involucre los ámbitos familiar, profesional y académico, con el n de integrar la reflexión ética en nuestro diario proceder. PMID:19946384

  6. DelPhiForce web server: electrostatic forces and energy calculations and visualization.

    PubMed

    Li, Lin; Jia, Zhe; Peng, Yunhui; Chakravorty, Arghya; Sun, Lexuan; Alexov, Emil

    2017-11-15

    Electrostatic force is an essential component of the total force acting between atoms and macromolecules. Therefore, accurate calculations of electrostatic forces are crucial for revealing the mechanisms of many biological processes. We developed a DelPhiForce web server to calculate and visualize the electrostatic forces at molecular level. DelPhiForce web server enables modeling of electrostatic forces on individual atoms, residues, domains and molecules, and generates an output that can be visualized by VMD software. Here we demonstrate the usage of the server for various biological problems including protein-cofactor, domain-domain, protein-protein, protein-DNA and protein-RNA interactions. The DelPhiForce web server is available at: http://compbio.clemson.edu/delphi-force. delphi@clemson.edu. Supplementary data are available at Bioinformatics online. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

  7. Determination of aquifer roof extending under the sea from variable-density flow modelling of groundwater response to tidal loading: case study of the Jahe River Basin, Shandong Province, China

    NASA Astrophysics Data System (ADS)

    Cheng, Jianmei; Chen, Chongxi; Ji, Menrui

    The main task of studies on salt-water intrusion into coastal confined aquifers is to predict the position of the fresh- salt-water interface, which can be determined from the length of the aquifer roof extending under the sea. Records of groundwater level affected by tides can be used to infer hydrological conditions and determine hydraulic parameters of an aquifer extending under the sea. In this paper, a three-dimensional, variable-density groundwater flow model has been developed to determine the equivalent roof length of an aquifer extending under the sea from the tidal-effected data of groundwater level in the Jahe River Basin, Shandong Province, China. The seaward boundary is obtained by converging hydraulic head fluctuations observed in drill holes with calculated values, and the aquifer parameters in the extending zone are estimated. The impacts of aquifer roof length and aquifer parameters on the fluctuation of tidal groundwater are studied. It is concluded that the length of the aquifer roof extending under the sea should correspond with certain aquifer parameters in the extrapolation zone. Therefore, the seaward boundary determined from tidal-effect information is the equivalent boundary in hydrodynamic characteristics rather than the true boundary of the confined aquifer Les sujets principaux des études d'instrusion saline dans les aquifères confinés en zone côtière sont la prédiction de la position de l'interface entre l'eau salée et l'eau fraîche, qui peut être déterminée à partir de l'extention du toit de l'aquifère sous la mer. Les enregistrements des niveaux des eaux souterraines influencés par les marées peuvent être utilisés pour préciser les conditions hydrologiques et déterminer les paramètres hydrauliques d'un aquifère possédant une extension sous la mer. Dans cet article, un modèle tridimensionnel comprenant des eaux souterraines de densité variable a été développé pour déterminer la longueur équivalente du toit d'un aquifère qui s'étend sous la mer à partir des données concernant les effets de marée sur les eaux souterraines dans le bassin de la rivière Jahe, dans la province de Shandong, Chine. La limite de salinité est déterminée en faisant converger les fluctuations des hauteurs piézométriques avec les valeurs calculées, et les paramètres de l'aquifère sont estimés dans la zone s'étendant sous la mer. L'incidence de la longueur de l'aquifère sous la mer sur les fluctuations des niveaux est étudiée. On en conclut que la longueur du toit de l'aquifère sous la mer peut correspondre à certains aquifères paramètres dans la zone d'extrapolation. Par conséquent, la limite de salinité déterminée à partir des effets de marée est l'équivalent d'une limite hydrodynamique plutôt que la véritable limite de l'aquifère. El principal objetivo de los estudios sobre intrusiones de agua salada en acuíferos costeros confinados es predecir la posición de la interfase agua dulce-agua salada, la cual puede determinarse a partir de la longitud del techo del acuífero que se extiende por debajo del mar. Los registros de niveles de agua subterránea afectados por las mareas puede utilizarse para inferir las condiciones hidrológicas y determinar los parámetros hidráulicos de un acuífero que se extiende por debajo del mar. En este artículo se ha desarrollado un modelo de flujo tri-dimensional de agua subterránea de densidad variable para determinar la longitud del techo equivalente de un acuífero que se extiende por debajo del mar a partir de datos, afectados por la marea, de niveles de agua subterránea en la Cuenca del Río Jahe, Provincia Shandong, China. El límite hacia el océano se obtiene por convergencia de fluctuaciones de presiones hidráulicas observadas en pozos con valores calculados, y se estiman los parámetros del acuífero en la zona extendida. Se estudian los impactos de la longitud del techo del acuífero y los parámetros del acuífero en la fluctuación del agua subterránea afectada por las mareas. Se concluye que la longitud del techo del acuífero que se extiende por debajo del mar debería corresponder con ciertos parámetros del acuífero en la zona de extrapolación. Por lo tanto, el límite hacia el océano determinado a partir de información de efectos de marea es el límite equivalente en características hidrodinámicas más que el límite real del acuífero confinado.

  8. Estudio del CH interestelar

    NASA Astrophysics Data System (ADS)

    Olano, C.; Lemarchand, G.; Sanz, A. J.; Bava, J. A.

    El objetivo principal de este proyecto consiste en el estudio de la distribución y abundancia del CH en nubes interestelares a través de la observación de las líneas hiperfinas del CH en 3,3 GHz. El CH es una molécula de amplia distribución en el espacio interestelar y una de las pocas especies que han sido observadas tanto con técnicas de radio como ópticas. Desde el punto de vista tecnológico se ha desarrollado un cabezal de receptor que permitirá la realización de observaciones polarimétricas en la frecuencia de 3,3 GHz, con una temperatura del sistema de 60 K y un ancho de banda de 140 MHz, y que será instalado en el foco primario de la antena parabólica del IAR. El cabezal del receptor es capaz de detectar señales polarizadas, separando las componentes de polarización circular derecha e izquierda. Para tal fin el cabezal consta de dos ramas receptoras que amplificarán la señal y la trasladarán a una frecuencia más baja (frecuencia intermedia), permitiendo de esa forma un mejor transporte de la señal a la sala de control para su posterior procesamiento. El receptor además de tener características polarimétricas, podrá ser usado en el continuo y en la línea, utilizando las ventajas observacionales y de procesamiento de señal que actualmente posee el IAR.

  9. Determinacion de periodos fundamentales del suelo mediante vibraciones ambientales en el municipio de Humacao, Puerto Rico

    NASA Astrophysics Data System (ADS)

    Cintron Aponte, Rommel

    La tecnica de Nakamura ha sido utilizada a nivel mundial para determinar periodos fundamentales del suelo. La tecnica consiste en calcular y graficar cocientes espectrales H/V de vibraciones ambientales registradas sobre el suelo. Mediciones de vibraciones ambientales fueron tomadas en 151 lugares dentro del municipio de Humacao, localizado al este de Puerto Rico. Los datos se procesaron utilizando espectros de Fourier y espectros de potencia. La tecnica fue validada al compararla con los resultados de cocientes espectrales H/V de registros de sismos debiles y tambien con una modelacion numerica realizada con datos de un ensayo "downhole". Las graficas de los cocientes espectrales H/V fueron divididas en casos y grupos, los cuales dependen de la facilidad para identificar el periodo fundamental pico y amplitudes en frecuencias menores de 1 Hz, respectivamente. Los resultados obtenidos con ambos espectros fueron comparados y se concluye que los mismos se complementan para proveer resultados mas confiables. Se crearon mapas de periodos fundamentales, factores de amplitud, isoperiodos y clasificacion sismica de sitio. Los mapas de isoperiodos fueron realizados en las zonas mas pobladas sobre depositos de suelo. El mapa de periodos fundamentales del suelo mostro buena correlacion con la geologia local. El mapa de clasificacion sismica derivado de periodos de sitio fue comparado con el mapa de clasificacion sismica derivado de barrenos geotecnicos. El mapa de clasificacion obtenido de periodos puede sobreestimar un poco algunas clasificaciones del suelo. Sin embargo, este mapa puede proveer un estimado aproximado de la velocidad de onda de corte promedio del suelo hasta una profundidad de 100 pies (30 metros).

  10. Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

    PubMed

    Park, Joonhong; Kim, Myungshin; Jang, Woori; Chae, Hyojin; Kim, Yonggoo; Chung, Nack-Gyun; Lee, Jae-Wook; Cho, Bin; Jeong, Dae-Chul; Park, In Yang; Park, Mi Sun

    2015-05-01

    A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG. Our aim in this study was to investigate the origin of these common mutations of FANCA and FANCG. We genotyped 13 FA patients consisting of five FA-A patients and eight FA-G patients from the Korean FA population. Microsatellite markers used for haplotype analysis included four CA repeat markers which are closely linked with FANCA and eight CA repeat markers which are contiguous with FANCG. As a result, Korean FA-A patients carrying c.2546delC or c.3720_3724delAAACA did not share the same haplotypes. However, three unique haplotypes carrying c.307+1G>C, c.1066C > T, or c.1589_1591delATA, that consisted of eight polymorphic loci covering a flanking region were strongly associated with Korean FA-G, consistent with founder haplotypes reported previously in the Japanese FA-G population. Our finding confirmed the common ancestral haplotypes on the origins of the East Asian FA-G patients, which will improve our understanding of the molecular population genetics of FA-G. To the best of our knowledge, this is the first report on the association between disease-linked mutations and common ancestral haplotypes in the Korean FA population. © 2015 John Wiley & Sons Ltd/University College London.

  11. Astronomía para ciegos y amblíopes. Proyecto de construcción de un planetario especial en la ciudad de Mar del Plata

    NASA Astrophysics Data System (ADS)

    Musso, S.

    ?`Qué es la Astronomía para Ciegos?. El trabajo es una adaptación en base a la escala de magnitudes de Hipparco que cambia el concepto de luz por una adaptación sonora, donde las estrellas de magnitud 6 se escuchan en 10 dB, más o menos lo que consideramos el umbral de la audición humana. Quienes no escuchan muy bien no pueden escuchar las magnitudes 6, de la misma manera que muchos de nosotros, que no poseemos una visión perfecta, no podemos observar esas mismas estrellas en el cielo (más allá de la polución). A los astros de magnitud 5 vamos a relacionarlos a un sonido en 20 dB. Y así sucesivamente. También los colores estarán representados en una convención de graves a agudos y lo mismo algunas características del cielo. Por ejemplo, la Vía Láctea se mostrará como un ``ruido", como bien nos lo hicieron ver nuestros futuros destinatarios. En Mar del Plata nos encontramos ya trabajando en un proyecto que tiene como objetivo final la construcción del Primer Planetario Acústico del Mundo, una herramienta para la enseñanza de la astronomía, un espacio para la lucha contra la discriminación del discapacitado y una posibilidad de ``ver el cielo de un modo diferente".

  12. The human Nav1.5 F1486 deletion associated with long QT syndrome leads to impaired sodium channel inactivation and reduced lidocaine sensitivity

    PubMed Central

    Song, Weihua; Xiao, Yucheng; Chen, Hanying; Ashpole, Nicole M; Piekarz, Andrew D; Ma, Peilin; Hudmon, Andy; Cummins, Theodore R; Shou, Weinian

    2012-01-01

    The deletion of phenylalanine 1486 (F1486del) in the human cardiac voltage-gated sodium channel (hNav1.5) is associated with fatal long QT (LQT) syndrome. In this study we determined how F1486del impairs the functional properties of hNav1.5 and alters action potential firing in heterologous expression systems (human embryonic kidney (HEK) 293 cells) and their native cardiomyocyte background. Cells expressing hNav1.5-F1486del exhibited a loss-of-function alteration, reflected by an 80% reduction of peak current density, and several gain-of-function alterations, including reduced channel inactivation, enlarged window current, substantial augmentation of persistent late sodium current and an increase in ramp current. We also observed substantial action potential duration (APD) prolongation and prominent early afterdepolarizations (EADs) in neonatal cardiomyocytes expressing the F1486del channels, as well as in computer simulations of myocyte activity. In addition, lidocaine sensitivity was dramatically reduced, which probably contributed to the poor therapeutic outcome observed in the patient carrying the hNav1.5-F1486del mutation. Therefore, despite the significant reduction in peak current density, the F1486del mutation also leads to substantial gain-of-function alterations that are sufficient to cause APD prolongation and EADs, the predominant characteristic of LQTs. These data demonstrate that hNav1.5 mutations can have complex functional consequences and highlight the importance of identifying the specific molecular defect when evaluating potential treatments for individuals with prolonged QT intervals. PMID:22826127

  13. [Comparative analysis of child development screening tools designed and validated in Mexico].

    PubMed

    Orcajo-Castelán, Rodrigo; Sidonio-Aguayo, Beatriz; Alcacio-Mendoza, Jorge Augusto; López-Díaz, Giovana Lucía

    In recent years a number of child development screening tools have been developed in Mexico; however, their properties have not been compared. The objective of this review was to compare the report quality and risk bias of the screening tools developed and validated in Mexico in their published versions. A search was conducted in databases, gray literature and cross references. The resultant tests were compared and analyzed using STARD, QUADAS and QUADAS-2 criteria. "Valoración Neuroconductual del Desarrollo del Lactante" (VANEDELA), "Evaluación del Desarrollo Infantil or EDI" (CDE in English), "Prueba de Tamiz del Neurodesarrollo infantil" (PTNI), "Cartillas de Vigilancia para identificar alteraciones en el Desarrollo del Lactante" (CVDL) and "Indicadores de riesgo del Perfil de Conductas de Desarrollo" (INDIPCD-R) were included for the comparison. No test fulfilled all STARD items. The most complete in their methodological description were VANEDELA and EDI. The areas lacking more data on the reports were recruiting and patient selection (VANEDELA, PTNI, CVDL, INDIPCD-R). In QUADAS evaluation, all had some risk bias, but some serious concerns of risk bias were raised by patient sampling and by the choice of gold standard in two tests (PTNI, INDIPCD-R). Child development screening tests created and validated in Mexico have variable report quality and risk bias. The test with the best validation report quality is VANEDELA and the one with the lowest risk of bias is EDI. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  14. PDK4 Deficiency Induces Intrinsic Apoptosis in Response to Starvation in Fibroblasts from Doberman Pinschers with Dilated Cardiomyopathy.

    PubMed

    Taggart, Kathryn; Estrada, Amara; Thompson, Patrick; Lourenco, Francisco; Kirmani, Sara; Suzuki-Hatano, Silveli; Pacak, Christina A

    2017-01-01

    The Doberman pinscher (DP) canine breed displays a high incidence of idiopathic, nonischemic dilated cardiomyopathy (DCM) with increased mortality. A common mutation in DPs is a splice site deletion in the pyruvate dehydrogenase kinase 4 (PDK4) gene that shows a positive correlation with DCM development. PDK4, a vital mitochondrial protein, controls the switch between glycolysis and oxidative phosphorylation based upon nutrient availability. It is likely, although unproven, that DPs with the PDK4 mutation are unable to switch to oxidative phosphorylation during periods of low nutrient availability, and thus are highly susceptible to mitochondrial-mediated apoptosis. This study investigated cell viability, mitochondrial stress, and activation of the intrinsic (mitochondrial mediated) apoptotic pathway in dermal fibroblasts from DPs that were healthy (PDK4 wt/wt ), heterozygous (PDK4 wt/del ), and homozygous (PDK4 del/del ) for the PDK4 mutation under conditions of high (unstarved) and low (starved) nutrient availability in vitro . As hypothesized, PDK4 wt/del and PDK4 del/del cells showed evidence of mitochondrial stress and activation of the intrinsic apoptotic pathway following starvation, while the PDK4 wt/wt cells remained healthy and viable under these conditions. Adeno-associated virus (AAV) PDK4-mediated gene replacement experiments confirmed cause-effect relationships between PDK4 deficiency and apoptosis activation. The restoration of function observed following administration of AAV-PDK4 provides strong support for the translation of this gene therapy approach into the clinical realm for PDK4-affected Dobermans.

  15. Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

    PubMed

    Yang, Liping; Yin, Xiaobei; Feng, Lina; You, Debo; Wu, Lemeng; Chen, Ningning; Li, Aijun; Li, Genlin; Ma, Zhizhong

    2014-01-01

    X-linked Retinitis Pigmentosa (XLRP) accounts for 10-20% of all RP cases, and represents the most severe subtype of this disease. Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the most common causes of XLRP, accounting for over 70-75% of all XLRP cases. In this work, we analyzed all the exons of RPGR gene with Sanger sequencing in seven Chinese XLRP families, two of these with a provisional diagnosis of adRP but without male-to-male transmission. Three novel deletions (c.2233_34delAG; c.2236_37delGA and c.2403_04delAG) and two known nonsense mutations (c.851C→G and c.2260G→T) were identified in five families. Two novel deletions (c.2233_34delAG and c.2236_37delGA) resulted in the same frame shift (p.E746RfsX22), created similar phenotype in Family 3 and 4. The novel deletion (c.2403_04delAG; p.E802GfsX31) resulted in both XLRP and x-linked cone-rod dystrophy within the male patients of family 5, which suggested the presence of either genetic or environmental modifiers, or both, play a substantial role in disease expression. Genotype-phenotype correlation analysis suggested that (1) both patients and female carriers with mutation in Exon 8 (Family 1) manifest more severe disease than did those with ORF15 mutations (Family 2&3&4); (2) mutation close to downstream of ORF15 (Family 5) demonstrate the early preferential loss of cone function with moderate loss of rod function.

  16. PubMed

    Serrano-Guzmán, María; Valenza-Peña, Carmen M; Serrano-Guzmán, Carmen; Aguilar-Ferrándiz, Encarnación; Olmedo-Alguacil, Milagrosa; Villaverde-Gutiérrez, Carmen

    2016-11-29

    Objetivo: este estudio tuvo como objetivo probar la eficacia de un programa de danzaterapia en la composición corporal y calidad de vida en mujeres mayores de 65 años, que no realizan ejercicio físico de forma habitual. Métodos: cincuenta y dos mujeres sedentarias (edad media de 69,27 ± 3,85 años) fueron asignadas al azar para realizar un programa de danzaterapia (n = 27) o formar parte del grupo control (n = 25). El grupo de danza, participó durante ocho semanas en un programa de danza, tres sesiones semanales de 50 minutos cada una, basado en danza popular española (sevillanas) y ballet. Ambos grupos reciben información sobre la importancia de la alimentación y del ejercicio físico al comienzo y mitad del estudio. La circunferencia de la cintura, la presión arterial, el índice de masa corporal y la calidad de vida se evaluaron al inicio y después del tratamiento en ambos grupos. El análisis estadístico se realizó con un 2 × 2 ANOVA.Resultados: las mujeres del grupo de danza mostraron reducción significativa de la circunferencia de la cintura (p = 0,001) en comparación con las del grupo control. Los cambios en el IMC y la calidad de vida, aunque mejoraron en el grupo de danza, no alcanzaron significación estadística. Conclusión: la danzaterapia española es una forma de ejercicio físico eficaz para reducir la grasa visceral y prevenir comorbilidades en mujeres mayores, contribuyendo a cambiar estilos de vida poco saludables.

  17. [Relation of MBL ExonI 54 and NFκB1-94ins/del ATTG Polymorphism with Fever during Neutropenia in Patients with Acute Leukaemia after Chemotherapy].

    PubMed

    Xu, Wen-Ning; Jiang, Zu-Jun; Li, Yong-Hua; Xiao, Hao-Wen; Gao, Yang; Pang, Yan; Ouyang, Lin; Liu, Zeng-Hui; Zhang, Le-Qing; Wang, Yang; Xiao, Yang

    2015-10-01

    To explore the correlation between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia (AL) (except M3) after first chemotherapy in Chinese Han population. Blood samples obtained from 76 fever patients with AL during neutropenia episodes were detected to analyse single nucleotide polymorphism (SNP) in the MBL ExonI 54 and NFκB1-94ins/del ATTG gene, and analyse the correlation between above-mentioned 2 polymorphisms and fever during neutropenia of AL patients after chemotherapy. In 76 patients, no correlation were found between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia after chemotherapy (P > 0.05). No significant relation were found in sex, age, underlying disease, disease status or degrees of neutropenia in febrile neutropenia between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism (P > 0.05). However, patients with MBL ExonI 54 mutation presented longer febrile duration with a median of 5 days compared to 3 days of patients with wildtype MBL ExonI 54 genotype (P < 0.05). There is no clear correlation between MBL ExonI 54 and NFκB1-94ins/del ATTG polymorphism and fever during neutropenia in patients with acute leukaemia after chemotherapy. However, the patients with MBL ExonI 54 mutation have been observed to present a longer febrile duration.

  18. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).

    PubMed

    Beneyto, M M; Cuevas, J M; Millán, J M; Espinós, C; Mateu, E; González-Cabo, P; Baiget, M; Doménech, M; Bernal, S; Ayuso, C; García-Sandoval, B; Trujillo, M J; Borrego, S; Antiñolo, G; Carballo, M; Nájera, C

    2000-06-01

    The Usher syndrome (USH) is a group of autosomal recessive diseases characterized by congenital sensorineural hearing loss and retinitis pigmentosa. Three clinically distinct forms of Usher syndrome have so far been recognized and can be distinguished from one another by assessing auditory and vestibular function. Usher syndrome type II (USH2) patients have congenital moderate-to-severe nonprogressive hearing loss, retinitis pigmentosa, and normal vestibular function. Genetic linkage studies have revealed genetic heterogeneity among the three types of USH, with the majority of USH2 families showing linkage to the USH2A locus in 1q41. The USH2A gene (MIM 276901) has been identified: three mutations, 2314delG, 2913delG, and 4353-54delC, were initially reported in USH2A patients, the most frequent of which is the 2314delG mutation. It has been reported that this mutation can give rise to typical and atypical USH2 phenotypes. USH2 cases represent 62% of all USH cases in the Spanish population, and 95% of these cases have provided evidence of linkage to the USH2A locus. In the present study, the three reported mutations were analyzed in 59 Spanish families with a diagnosis of USH type II. The 2314delG was the only mutation identified in our population: it was detected in 25% of families and 16% of USH2 chromosomes analyzed. This study attempts to estimate the prevalence of this common mutation in a homogeneous Spanish population.

  19. Bulimia nerviosa

    MedlinePlus

    ... Virus del papiloma humano (VPH) Infertilidad Síndrome de ovario poliquístico (SOP) Infecciones de transmisión sexual (ITS) Fibromas ... Virus del papiloma humano (VPH) Infertilidad Síndrome de ovario poliquístico (SOP) Infecciones de transmisión sexual (ITS) Fibromas ...

  20. Información general sobre los mosquitos

    EPA Pesticide Factsheets

    Una consecuencia más importante de algunas picaduras de mosquitos es la trasmisión de ciertas enfermedades graves como el paludismo, la fiebre del dengue y varias formas de encefalitis, que incluyen el virus del Nilo occidental.

  1. 75 FR 24733 - Agency Information Collection Activities: Submission for OMB Review; Comment Request, OMB No...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-05

    ... (Replaces 90-69E), Recibo de Propiedad del Gobierno. SUMMARY: The Federal Emergency Management Agency (FEMA... (Replaces 90-69E), Recibo de Propiedad del Gobierno. Abstract: Disaster Assistance Registration is a program...

  2. 78 FR 62948 - Unblocking of Specially Designated Nationals and Blocked Persons Pursuant to Executive Order 12978

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-22

    ... AGROPECUARIA DEL SUR LTDA., Bogota, Colombia; c/o INVERSIONES AGROINDUSTRIALES DEL OCCIDENTE LTDA., Bogota, Colombia; c/o AGROPECUARIA LINDARAJA S.A., Cali, Colombia; c/o INVERSIONES BRASILAR S.A., Bogota, Colombia...

  3. Revision curricular a partir de un analisis comparativo de las discrepancias en los curriculos de una escuela de optometria en Puerto Rico con las competencias requeridas para las agencias de revalida y acreditacion 2004

    NASA Astrophysics Data System (ADS)

    Rivera Pacheco, Andres

    El proposito de esta investigacion, un estudio cualitativo de caso, fue comparar y contrastar el curriculo vigente de la Escuela de Optometria de la UIAPR con las competencias y estandares requeridos por las agencias de acreditacion y de revalida. Con este proposito, decidimos realizar una revision y un analisis de documentos: el prontuario de cada uno de los cursos de los curriculos implantados en el 1993 y en el 2001; las competencias y estandares establecidos por las agencias de revalida y de acreditacion; y las estadisticas en las que se analiza el porcentaje de estudiantes que aprueban cada una de las partes de los examenes de revalida entre el 1998 al 2003. Se realizaron entrevistas dirigidas para dar apoyo y complementar la revision y el analisis de estos documentos. Los participantes de las entrevistas fueron tres estudiantes de la clase de optometria del 2004 (ultima clase del curriculo del 1993); tres estudiantes de la clase de optometria del 2005 (primera clase graduanda del curriculo vigente) y tres profesores y/o directores de los Departamentos de Ciencias Basicas, Ciencias Clinicas y Cuidado al Paciente. Esta investigacion se enmarco en el modelo de evaluacion curricular de discrepancia de Malcolm Provus y en el modelo de desarrollo basado en competencias. Uno de los hallazgos mas importantes del estudio es que los cambios que se implantaron al curriculo del 2001 no han logrado que los estudiantes mejoren su ejecucion en los examenes de revalida. Por otro lado, se encontro que el curriculo vigente atiende completamente los estandares de la practica de Optometria, pero no las competencias. Esta informacion fue validada mediante el uso de una tabla de cotejo para el analisis de los cursos y de la informacion obtenida de las entrevistas. El estudio determina y concluye que existen discrepancias entre los prontuarios de los cursos del curriculo y las competencias requeridas por la agencia de revalida. Segundo, que el Departamento de Ciencias Basicas es el que presenta mas deficiencias en el desarrollo de las competencias. El investigador recomienda disenar e implantar un curriculo basado en competencias y proveer formacion en didactica y procesos de aprendizaje a los profesores.

  4. High Incidence of ACE/PAI-1 in Association to a Spectrum of Other Polymorphic Cardiovascular Genes Involving PBMCs Proinflammatory Cytokines in Hypertensive Hypercholesterolemic Patients: Reversibility with a Combination of ACE Inhibitor and Statin

    PubMed Central

    Mouawad, Charbel; Haddad, Katia; Hamoui, Samar; Azar, Albert; Fajloun, Ziad; Makdissy, Nehman

    2015-01-01

    Cardiovascular diseases (CVDs) are significantly high in the Lebanese population with the two most predominant forms being atherosclerosis and venous thrombosis. The purpose of our study was to assess the association of a spectrum of CVD related genes and combined state of hypertension hypercholesterolemia (HH) in unrelated Lebanese. Twelve polymorphisms were studied by multiplex PCR and reverse hybridization of DNA from 171 healthy individuals and 144 HH subjects. Two genes were significantly associated with HH: ACE (OR: 9.20, P<0.0001) and PAI-1 (OR: 2.29, P = 0.007), respectively with the occurrence of the risky alleles “Del” and “4G”. The frequencies of the Del and 4G alleles were found to be 0.98 and 0.90 in the HH group versus 0.84 and 0.79 in the healthy group, respectively. Serum ACE activity and PAI-I increased significantly with Del/Del and 4G/5G genotypes. The co-expression of Del/4G(+/+) was detected in 113 out of 171 (66.0%) controls and 125 out of 144 (86.8%) HH subjects. Del/4G(-/-) was detected in only 6 (3.5%) controls and undetected in the HH group. Three venous thrombosis related genes [FV(Leiden), MTHFR(A1298C) and FXIII(V34L)] were significantly related to the prominence of the co-expression of Del/4G(+/+). A range of 2 to 8 combined polymorphisms co-expressed per subject where 5 mutations were the most detected. In Del/4G(+/+) subjects, peripheral blood mononuclear cells (PBMCs) produced significant elevated levels of IFN-γ and TNF-α contrary to IL-10, and no variations occurred for IL-4. ACE inhibitor (ramipril) in combination with statin (atorvastatin) and not alone reversed significantly the situation. This first report from Lebanon sheds light on an additional genetic predisposition of a complex spectrum of genes involved in CVD and suggests that the most requested gene FVL by physicians may not be sufficient to diagnose eventual future problems that can occur in the cardiovascular system. Subjects expressing the double mutations (Del/4G) are at high risk for the onset of CVDs. PMID:25973747

  5. A Voice and a Vote: The Advisory Board Experiences of Spanish-Speaking Latina Mothers

    PubMed Central

    DeCamp, Lisa Ross; Gregory, Emily; Polk, Sarah; Chrismer, Marilyn Camacho; Giusti, Flor; Thompson, Darcy A.; Sibinga, Erica

    2016-01-01

    Latino children experience disparities in health care access and quality. Family advisory groups for clinics and hospitals may be one way to address disparities. We implemented and sustained an advisory board whose parent participants were exclusively limited-English proficient Latina mothers. As part of the board evaluation, we conducted semistructured individual interviews with parent participants during initial participation and after the final board meeting of the year. Members were satisfied with their board participation in both initial and follow-up interviews. They reported that board membership was an important way to improve clinic services and a unique opportunity for Latinos in the community. Experiences of discrimination and marginalization in health care settings were a theme across interviews. Members reported board membership countered these negative experiences. An advisory board including Spanish-speaking parents is an opportunity to engage vulnerable populations, which may result in broader impact on health care disparities. Los niños latinos experimentan disparidad en el acceso y calidad del cuidado de salud. Grupos de familias asesoras para clínicas y hospitales pueden ser una forma de hacer frente a las disparidades. Nosotros implementamos y sostuvimos un consejo asesor cuyos participantes fueron exclusivamente madres latinas con dominio limitado del inglés. Como parte de la evaluación del consejo, condujimos entrevistas semi-estructuradas individuales con las madres participantes durante la participación inicial y después de la última reunión del año del consejo. Los miembros estaban satisfechas con su participación en el consejo en ambas entrevistas, la inicial y la de seguimiento. Ellas reportaron que ser miembros del consejo era una forma importante para mejorar los servicios de la clínica y una oportunidad única para los latinos en la comunidad. Las experiencias de discriminación y marginalización en las instalaciones de cuidado de salud eran un tema a lo largo de las entrevistas. Los miembros reportaron que ser miembros del consejo contrarrestó estas experiencias negativas. Un consejo asesor incluyendo padres que hablan español es una oportunidad para involucrar a poblaciones vulnerables, las cuales pueden resultar en un impacto más amplio en las disparidades del cuidado de salud. PMID:26671562

  6. Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study.

    PubMed

    Näslund-Koch, Charlotte; Nordestgaard, Børge G; Bojesen, Stig E

    2016-04-10

    CHEK2 is a cell cycle checkpoint regulator, and the CHEK2*1100delC germline mutation leads to loss of function and increased breast cancer risk. It seems plausible that this mutation could also predispose to other cancers. Therefore, we tested the hypothesis that CHEK2*1100delC heterozygosity is associated with increased risk for other cancers in addition to breast cancer in the general population. We examined 86,975 individuals from the Copenhagen General Population Study, recruited from 2003 through 2010. The participants completed a questionnaire on health and lifestyle, were examined physically, had blood drawn for DNA extraction, were tested for presence of CHEK2*1100delC using Taqman assays and sequencing, and were linked over 1943 through 2011 to the Danish Cancer Registry. Incidences and risks of individual cancer types, including breast cancer, were calculated using Kaplan-Meier estimates, Fine and Gray competing-risks regressions, and stratified analyses with interaction tests. Among 86,975 individuals, 670 (0.8%) were CHEK2*1100delC heterozygous, 2,442 developed breast cancer, and 6,635 developed other cancers. The age- and sex-adjusted hazard ratio for CHEK2*1100delC heterozygotes compared with noncarriers was 2.08 (95% CI, 1.51 to 2.85) for breast cancer and 1.45 (95% CI, 1.15 to 1.82) for other cancers. When stratifying for sex, the age-adjusted hazard ratios for other cancers were 1.54 (95% CI, 1.08 to 2.18) for women and 1.37 (95% CI, 1.01 to 1.85) for men (sex difference: P = .63). For CHEK2*1100delC heterozygotes compared with noncarriers, the age- and sex-adjusted hazard ratios were 5.76 (95% CI, 2.12 to 15.6) for stomach cancer, 3.61 (95% CI, 1.33 to 9.79) for kidney cancer, 3.45 (95% CI, 1.09 to 10.9) for sarcoma, and 1.60 (95% CI, 1.00 to 2.56) for prostate cancer. CHEK2*1100delC heterozygosity is associated with 15% to 82% increased risk for at least some cancers in addition to breast cancer. This information may be useful in clinical counseling of patients with this loss-of-function mutation. © 2016 by American Society of Clinical Oncology.

  7. Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

    PubMed Central

    2011-01-01

    About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68_69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are commonly encountered. It has been suggested by some authors that screening for founder mutations should be undertaken in all Brazilian women with breast cancer. Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. Among 137 unrelated Brazilian women from HBOC families, the BRCA1c.5266dup mutation was identified in seven individuals (5%). This prevalence is similar to that encountered in non-Ashkenazi HBOC families in other populations. However, among patients with bilateral breast cancer, the frequency of c.5266dup was significantly higher when compared to patients with unilateral breast tumors (12.1% vs 1.2%, p = 0.023). The BRCA1 c.68_69del and BRCA2 c.5946del mutations did not occur in this sample. We conclude that screening non-Ashkenazi breast cancer-affected women from the ethnically heterogeneous Brazilian populations for the BRCA1 c.68_69del and BRCA2 c.5946del is not justified, and that screening for BRCA1c.5266dup should be considered in high risk patients, given its prevalence as a single mutation. In high-risk patients, a negative screening result should always be followed by comprehensive BRCA gene testing. The finding of a significantly higher frequency of BRCA1 c.5266dup in women with bilateral breast cancer, as well as existence of other as yet unidentified founder mutations in this population, should be further assessed in a larger well characterized high-risk cohort. PMID:22185575

  8. Identification of duck plague virus by polymerase chain reaction

    USGS Publications Warehouse

    Hansen, W.R.; Brown, Sean E.; Nashold, S.W.; Knudson, D.L.

    1999-01-01

    A polymerase chain reaction (PCR) assay was developed for detecting duck plague virus. A 765-bp EcoRI fragment cloned from the genome of the duck plague vaccine (DP-VAC) virus was sequenced for PCR primer development. The fragment sequence was found by GenBank alignment searches to be similar to the 3a?? ends of an undefined open reading frame and the gene for DNA polymerase protein in other herpesviruses. Three of four primer sets were found to be specific for the DP-VAC virus and 100% (7/7) of field isolates but did not amplify DNA from inclusion body disease of cranes virus. The specificity of one primer set was tested with genome templates from other avian herpesviruses, including those from a golden eagle, bald eagle, great horned owl, snowy owl, peregrine falcon, prairie falcon, pigeon, psittacine, and chicken (infectious laryngotracheitis), but amplicons were not produced. Hence, this PCR test is highly specific for duck plague virus DNA. Two primer sets were able to detect 1 fg of DNA from the duck plague vaccine strain, equivalent to five genome copies. In addition, the ratio of tissue culture infectious doses to genome copies of duck plague vaccine virus from infected duck embryo cells was determined to be 1:100, making the PCR assay 20 times more sensitive than tissue culture for detecting duck plague virus. The speed, sensitivity, and specificity of this PCR provide a greatly improved diagnostic and research tool for studying the epizootiology of duck plague. /// Se desarroll?? una prueba de reacci??n en cadena por la polimerasa para detectar el virus de la peste del pato. Un fragmento EcoRI de 765 pares de bases clonado del genoma del virus vacunal de la peste del pato fue secuenciado para la obtenci??n de los iniciadores de la prueba de la reacci??n en cadena por la polimerasa. En investigaciones de alineaci??n en el banco de genes ('GenBank') se encontr?? que la secuencia del fragmento era similar a los extremos 3a?? de un marco de lectura abierto indefinido y al gen para la proteina de la DNA polimerasa en otros virus herpes. Se encontraron tres o cuatro grupos de iniciadores especificos para el virus vacunal y para el 100% (7/7) de los a??slamientos de campo, pero no amplificaron el DNA del virus de hepatitis por cuerpos de inclusi??n de grullas. Se analiz?? la especificidad de un primer juego de iniciadores con moldes del genoma de otros virus herpes aviares, incluyendo el ?!guila dorada, ?!guila de cabeza blanca, lechuza de cuernos grandes, lechuza blanca, halc??n peregrino, palomas, aves psit?!cidas y pollos (virus de laringotraqueitis infecciosa), pero no se produjeron los productos finales. Por lo tanto, esta prueba de reacci??n en cadena por la polimerasa es altamente especifica para el DNA del virus. Dos grupos de iniciadores fueron capaces de detectar un fragmento de DNA de la cepa vacunal equivalente a cinco copias del genoma. Adem?!s, se determin?? que la proporci??n de la dosis infecciosa en cultivo celular y copias del genoma del virus vacunal de c??lulas de embri??n de pato infectadas era de 10 a 100 respectivamente, haciendo la prueba de la reacci??n en cadena por la polimerasa 20 veces m?!s sensible que el cultivo celular para detectar el virus. La velocidad, sensibilidad y especificidad de la prueba de la reacci??n en cadena por la polimerasa suministra una herramienta de investigaci??n y de diagn??stico altamente mejorada para el estudio de la epizootiolog?-a del virus.

  9. Arrecifes de coral en los Estados Unidos

    EPA Pesticide Factsheets

    Los factores de estrés locales y mundiales han afectado considerablemente a los arrecifes de coral del Caribe. Se ha informado una disminución masiva de los corales en toda la región de la cuenca del Caribe,

  10. Coping with Cosmetic Effects of Cancer Treatment

    MedlinePlus

    ... for Educators Search English Español Coping With Cosmetic Effects of Cancer Treatment KidsHealth / For Parents / Coping With ... estéticos del tratamiento del cáncer What Are Cosmetic Effects of Cancer Treatment? Cancer treatment can bring about ...

  11. Short philtrum

    MedlinePlus

    ... Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 125. Jones KL, Jones MC, Del Campo M. Facial-limb defects as major feature. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human ... Updated by: Neil K. Kaneshiro, MD, MHA, Clinical ...

  12. Modelling Ferroelectric Nanoparticles in Nematic Liquid Crystals (FERNANO)

    DTIC Science & Technology

    2015-02-26

    DIPARTIMENTO DI CHIMICA FISICA ED INORGANICA VIALE DEL RISORGIMENTO 4 BOLOGNA, 40136 ITALY EOARD GRANT #FA8655-11-1-3046 Report...AND ADDRESS(ES) DIPARTIMENTO DI CHIMICA FISICA ED INORGANICA VIALE DEL RISORGIMENTO 4 BOLOGNA, 40136 ITALY 8. PERFORMING ORGANIZATION

  13. En cumplimiento con la orden ejecutiva del presidente Trump sobre la Independencia Energética

    EPA Pesticide Factsheets

    Acciones reglamentarias tomadas por la EPA, incluyendo audiencias públicas, para implementar la Orden Ejecutiva sobre la Independencia Energética y la propuesta derogación del Plan de Energía Limpia.

  14. PubMed

    Fumis, María Agustina; Bidabehere, María Belén; Moyano, Yohana; Sardoy, Agustina; Gubiani, María Laura; Boldrini, María Pía; Pinardi, Beatriz Alicia

    2017-09-08

    La fascitis necrotizante por estrepotococo del grupo A es una infección infrecuente del tejido subcutáneo  y de la fascia, con una tasa de mortalidad elevada debido a su rápida progresión a shock y fallo multiorgánico. Se desarrolla generalmente en extremidades tras un traumatismo o lesión previa. El diagnóstico temprano es esencial así como también el manejo rápido y agresivo. Presentamos un caso de fascitis necrotizante de evolución rápida a pesar del diagnóstico precoz y tratamiento específico instaurado.

  15. A review on Balanites aegyptiaca Del (desert date): phytochemical constituents, traditional uses, and pharmacological activity

    PubMed Central

    Chothani, Daya L.; Vaghasiya, H. U.

    2011-01-01

    Balanites aegyptiaca Del. (Zygophyllaceae), known as ‘desert date,’ is spiny shrub or tree up to l0 m tall, widely distributed in dry land areas of Africa and South Asia. It is traditionally used in treatment of various ailments i.e. jaundice, intestinal worm infection, wounds, malaria, syphilis, epilepsy, dysentery, constipation, diarrhea, hemorrhoid, stomach aches, asthma, and fever. It contains protein, lipid, carbohydrate, alkaloid, saponin, flavonoid, and organic acid. Present review summarizes the traditional claims, phytochemistry, and pharmacology of B. aegyptiaca Del reported in scientific literature. PMID:22096319

  16. Magnetic Turbulence in Clusters of Galaxies

    DTIC Science & Technology

    2009-01-01

    plasmas que nos permiten confrontar conceptos teóricos del origen del campo magnético con observaciones detalladas. La turbulencia magnética en...GALAXIES T. A. Enßlin,1 T. Clarke,2 C. Vogt,3 A. Waelkens,1 A. A. Schekochihin4 RESUMEN Los cúmulos de galaxias son grandes laboratorios de turbulencia en...éstos cúmulos puede ser estudiada a través de la emisión radio-sincrotrón del medio intra-cúmulo en forma de rélicas y halos de los cúmulos. El

  17. Ecos del Cosmos: A radio astroexperience at the Universitat de Valencia

    NASA Astrophysics Data System (ADS)

    Marco, E.; Ballesteros, F. J.; Ortiz-Gil, A.

    2017-03-01

    During the last three years Ecos del Cosmos has been a radio program dedicated to spreading astronomical hot news to the Universitat de València community and beyond, and also topics of general astronomical interest. To do this, this program by Ràdio Universitat has conducted live interviews with researchers, explored relationships of astronomy with humanities and society, performed contests and explained in a simple way the main monthly ephemerides. A version of Ecos del Cosmos was broadcasted in the Onda Cero’s summer program ''Jelo en verano''conducted by Arturo Tellez.

  18. ?Cuales son las amenazas o peligros volcanicos?

    USGS Publications Warehouse

    Myers, Bobbie; Brantley, Steven R.; Stauffer, Peter; Hendley, James W.

    2000-01-01

    Los volcanes son capaces de producir numerosos peligros geologicos e hidrologicos. Los cientificos del Servicio Geologico de los EE. UU. (USGS, por sus siglas en ingles) y de otras instituciones alrededor del mundo estan estudiando los peligros de muchos de los centenares de volcanes activos y potencialmente activos del mundo. Estos cientificos vigilan muy de cerca la actividad de algunos de los volcanes mas peligrosos, por lo que estan preparados para alertar a las autoridades y/o a la poblacion en caso de que aumente sustancialmente la probabilidad de que ocurra una erupcion u otro evento peligroso.

  19. Application of the Angular Overlap Model to Lanthanide Phthalocyanines (Aplicacion Del Modelo de Traslape Angular a Ftalocinaninas de Lantanidos)

    DTIC Science & Technology

    1989-07-15

    metilicos. Esto trae a la teoria del campo ligante el concepto de grupos funcionales. En este trabajo se us6 el enfoque del MTA desarrollado por...susceptibilidades magne’ticas se hizo de acuerdo a la teoria de perturbaciones usando la ecuacio’n de Van Vleckc. Es importante recordar que a pesar de...en el anillo pirrolico la deslocalizacio’n en el grupo imina es peque? a, y el sistema no se altera mucho debido a la donaci6n W. A partir de lus

  20. Velocidades radiales en Collinder 121

    NASA Astrophysics Data System (ADS)

    Arnal, M.; Morrell, N.

    Se han llevado a cabo observaciones espectroscópicas de unas treinta estrellas que son posibles miembros del cúmulo abierto Collinder 121. Las mismas fueron realizadas con el telescopio de 2.15m del Complejo Astronómico El Leoncito (CASLEO). El análisis de las velocidades radiales derivadas del material obtenido, confirma la realidad de Collinder 121, al menos desde el punto de vista cinemático. La velocidad radial baricentral (LSR) del cúmulo es de +17 ± 3 km.s-1. Esta velocidad coincide, dentro de los errores, con la velocidad radial (LSR) de la nebulosa anillo S308, la cual es de ~20 ± 10 km.s-1. Como S308 se encuentra físicamente asociada a la estrella Wolf-Rayet HD~50896, es muy probable que esta última sea un miembro de Collinder 121. Desde un punto de vista cinemático, la supergigante roja HD~50877 (K3Iab) también pertenecería a Collinder 121. Basándonos en la pertenencia de HD~50896 a Collinder 121, y en la interacción encontrada entre el viento de esta estrella y el medio interestelar circundante a la misma, se estima para este cúmulo una distancia del orden de 1 kpc.

  1. Targeting the Intracellular Environment in Cystic Fibrosis: Restoring Autophagy as a Novel Strategy to Circumvent the CFTR Defect

    PubMed Central

    Villella, Valeria Rachela; Esposito, Speranza; Bruscia, Emanuela M.; Maiuri, Maria Chiara; Raia, Valeria; Kroemer, Guido; Maiuri, Luigi

    2013-01-01

    Cystic fibrosis (CF) patients harboring the most common deletion mutation of the CF transmembrane conductance regulator (CFTR), F508del, are poor responders to potentiators of CFTR channel activity which can be used to treat a small subset of CF patients who genetically carry plasma membrane (PM)-resident CFTR mutants. The misfolded F508del-CFTR protein is unstable in the PM even if rescued by pharmacological agents that prevent its intracellular retention and degradation. CF is a conformational disease in which defective CFTR induces an impressive derangement of general proteostasis resulting from disabled autophagy. In this review, we discuss how rescuing Beclin 1 (BECN1), a major player of autophagosome formation, either by means of direct gene transfer or indirectly by administration of proteostasis regulators, could stabilize F508del-CFTR at the PM. We focus on the relationship between the improvement of peripheral proteostasis and CFTR PM stability in F508del-CFTR homozygous bronchial epithelia or mouse lungs. Moreover, this article reviews recent pre-clinical evidence indicating that targeting the intracellular environment surrounding the misfolded mutant CFTR instead of protein itself could constitute an attractive therapeutic option to sensitize patients carrying the F508del-CFTR mutation to the beneficial action of CFTR potentiators on lung inflammation. PMID:23346057

  2. Magnetohydrodynamic and Paramagnetic Phenomena in Electrochemistry with Diamagnetic and Ferromagnetic Millielectrodes

    NASA Technical Reports Server (NTRS)

    Leventis, Nicholas; Dass, Amala

    2004-01-01

    There are three kinds of body forces operating in electrolytic solutions in the magnetic field: the magnetohydrodynamic force F(sub B) (=i x B), the F(sub delB) force (approximately B(raised dot)gradB) and the F(sub delC) force (approximately |B|(sup 2)gradC). These three forces manifest themselves differently, depending on the experimental conditions. Thus, diamagnetic disc millielectrodes (e.g., Au) with their plane parallel to the flux density of the homogeneous magnetic field of an electromagnet yield convective behavior analogous to that observed with rotating electrodes; that response is controlled by F(sub B). The same electrodes placed in the inhomogeneous field of a strong permanent magnet yield also convective behavior that is controlled by both F(sub B) and F(sub delB). Finally, similarly sized millielectrodes made of permanent magnets (e.g., Au-coated Nd-Fe-B discs) yield diffusion-controlled behavior at conditions where a gold disc electrode shows behavior dominated by density gradient driven natural convection; in this case the predominant forces are both F(sub delB) and F(sub delC). Under open circuit conditions, ferromagnetic (i.e., magnetizable) millielectrodes (Co, Fe, Ni) dipped in corrosive solutions and placed in homogeneous magnetic fields yield mass-transfer phenomena that seem to be controlled by magnetophoresis.

  3. Summary of a Gas Transport Tracer Test in the Deep Cerros Del Rio Basalts, Mesita del Buey, Los Alamos NM.

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Stauffer, Philip H.; Rahn, Thomas A.; Ortiz, John Philip

    Here we describe results from a tracer test in the Cerros del Rio basalt beneath Mesita del Buey, Technical Area 54 (TA-54) at Los Alamos National Laboratory (LANL or the Laboratory). This report follows from plans outlined in our previous Tracer Test Work Plan (LANL 2016). These activities were conducted by LANL to further characterize subsurface properties of the Cerros del Rio basalts at Material Disposal Area (MDA) L (Figure 1.1-1). The work presented follows from the “Interim Measures Work Plan for Soil-Vapor Extraction of Volatile Organic Compounds from Material Disposal Area L, Technical Area 54, Revision 1,” submitted tomore » the New Mexico Environment Department (NMED) in September 2014 (LANL 2014). Remediation of the MDA L vapor plume by soil-vapor extraction (SVE) is recommended as part of the final remedy in the “Corrective Measures Evaluation Report for Material Disposal Area L, Solid Waste Management Unit 54-006, at Technical Area 54, Revision 2” to meet a remedial action objective of preventing groundwater from being impacted above a regulatory standard by the transport of volatile organic compounds (VOCs) to groundwater through soil vapor (LANL 2011).« less

  4. [Identification of a HPGD mutation in three families affected with primary hypertrophic osteoarthropathy].

    PubMed

    Zhang, Wanying; Wang, Tao; Huang, Shuaiwu; Zhao, Xiuli

    2018-04-10

    To detect mutation of HPGD gene among three pedigrees affected with primary hypertrophic osteoarthropathy (PHO) by DNA sequencing and high-resolution melting (HRM) analysis. Genomic DNA was extracted from peripheral blood samples collected from the pedigrees. PCR and direct sequencing were carried out to identify potential mutations of the HPGD gene. Amplicons containing the mutation spot were generated by nested PCR. The products were then subjected to HRM analysis using the HR-1 instrument. Direct sequencing was carried out in family members and healthy individuals to confirm the result of HRM analysis. A homozygous mutation c.310_311delCT was detected in 2 affected probands, while a heterozygous mutation c.310_311delCT was detected in the third proband. HRM analysis of the fragments encompassing HPGD exon 3 showed 3 curve patterns representing three different genotypes, i.e., the wild type, the c.310_311delCT homozygote, and the c.310_311delCT heterozygote. Result of DNA sequencing was consistent with that of the HRM analysis and phenotype of the subjects. The c.310_311delCT mutation may be the most prevalent mutation among Chinese population. HRM analysis has provided an optimized method for genetic testing of HPGD mutation for its simplicity, rapid turnover and high sensitivity.

  5. Development of Genetic Markers in Eucalyptus Species by Target Enrichment and Exome Sequencing

    PubMed Central

    Dasgupta, Modhumita Ghosh; Dharanishanthi, Veeramuthu; Agarwal, Ishangi; Krutovsky, Konstantin V.

    2015-01-01

    The advent of next-generation sequencing has facilitated large-scale discovery, validation and assessment of genetic markers for high density genotyping. The present study was undertaken to identify markers in genes supposedly related to wood property traits in three Eucalyptus species. Ninety four genes involved in xylogenesis were selected for hybridization probe based nuclear genomic DNA target enrichment and exome sequencing. Genomic DNA was isolated from the leaf tissues and used for on-array probe hybridization followed by Illumina sequencing. The raw sequence reads were trimmed and high-quality reads were mapped to the E. grandis reference sequence and the presence of single nucleotide variants (SNVs) and insertions/ deletions (InDels) were identified across the three species. The average read coverage was 216X and a total of 2294 SNVs and 479 InDels were discovered in E. camaldulensis, 2383 SNVs and 518 InDels in E. tereticornis, and 1228 SNVs and 409 InDels in E. grandis. Additionally, SNV calling and InDel detection were conducted in pair-wise comparisons of E. tereticornis vs. E. grandis, E. camaldulensis vs. E. tereticornis and E. camaldulensis vs. E. grandis. This study presents an efficient and high throughput method on development of genetic markers for family– based QTL and association analysis in Eucalyptus. PMID:25602379

  6. Phytoreovirus-like sequences isolated from salivary glands of the glassy-winged sharpshooter Homolodisca vitripennis (Hemiptera: Cicadellidae)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Katsar, C.S.; Hunter, W.B.; Sinisterra, X.H.

    The salivary glands of the Glassy-winged sharpshooter (GWSS), Homalodisca vitripennis Germar 1821, (syn. H. coagulata, Hemiptera: Cicadellidae) were collected and used to produce a cDNA library. Examination by BLASTX analyses identified 2 viral sequences, one a 610-base pair fragment and a second 839-base pair fragment, both of which had significant homology to viruses within the genus Phytoreovirus. Resequencing of the fragments confirmed sequence validities. These sequences were used for in silico protein translation and BLASTP analysis confirming the established homology. While the GWSS is the primary vector of Pierce's disease of grapes, this is the first report that GWSS maymore » be a vector of a phytoreoviruses. Phylogenetic and homology comparisons with BLASTX, BLASTP, and PAUP analyses indicated that the viral sequences isolated from GWSS were closely related to the viruses in the Family Reoviridae, Genus Phytoreovirus, specifically Rice Dwarf Phytoreovirus (RDV). RDV is the only plant reovirus that is not limited to the phloem. Phytoreoviruses are transmitted in a propagative manner by cicadellid leafhoppers (Hemiptera: Cicadellidae), which acquire and transmit them during feeding. Phytoreoviruses have been reported from Agallian, Agalliopsis, Nephotettix, and Recilia, genera of leafhoppers, with evidence for transovarial transmission. The GWSS, although considered to feed primarily from the xylem, ingests from other plant tissues, such as the phloem and mesophyll during probing similar to other leafhoppers. The feeding behavior and wide host range of the GWSS provides an overlapping condition for these two organisms, leafhopper and virus. GWSS will feed from grasses as a transitory host, and on herbaceous and woody plants as primary hosts, which may favor the acquisition and transmission of Phytoreovirus by this leafhopper. Monitoring for an increase of Phytoreovirus spread in graminaceous crops that are in proximity to vineyards or tree crop orchards, where GWSS occurs, such as in southern California, will provide a better understanding of the potential role of the GWSS as a disease vector in the spread of phytoreoviruses and other plant pathogens. The sequences have been deposited in NCBI database under the accession numbers (EF058280) for GWSS-V1, WHSg013C11 and (EF058281) for GWSS-V2, WHSg024H02. (author) [Spanish] Dos fragmentos de 610 y 839 pares de bases fueron aislados apartir de una genoteca de expresion derivada de las glandulas salivales del cucarron de las alas cristalinas (GWSS), Homalodisca vitripennis, Germar 1821 (syn. H. coagulata) el cual es vector de la enfermedad de Pierce de las uvas. Los resultados de alineamiento utilizando BLASTX, BLASTP y el analisis filogenetico utilizando PAUP indicaron que los fragmentos de DNA estaban relacionado de manera mas cercana a viruses en la familia Reoviridae, genero Phytoreovirus, y especificamente a los virus del enanismo del arroz (RDV) y al virus del tumor de las grietas (WTV). El cucarron de las alas cristalinas es un saltahoja que se alimenta no solo del xilema sino tambien del floema y del mesofilo. Saltahojas del genero Agallian, son los principales vectores de WTV, el cual infecta el floema de plantas dicotiledoneas tumoraciones en las hojas y en las raices. WTV es transmitido por saltahojas y es el unico reovirus que es capaz de infectar tanto tejidos del xilema como del floema. El comportamiento alimentario del GWSS y su amplio rango de hospederos que incluye pastos y plantas herbaceas y lenosas podria proveer la interaccion entre estos dos organismos facilitando la adquisicion y tranmision de fitoreovirus por el GWSS. Un adecuado monitoreo de el incremento en la expansion de reoviruses en cultivos de gramineas asociados al los vinedos en donde GWSS ocurre en regiones tales como el sur de California, y en general el sur de los Estados Unidos, podria proveer un mejor entendimiento del papel del GWSS como vector de fitoreovirus y otros patogenos de plantas. Las sequencias se depositaron en la base de datos NCBI con los siguientes numeros de identificacion: (EF058280) para GWSS-V1, WHSg013C11 y (EF058281) para GWSSV2, WHSg024H02. (author)« less

  7. Sources and characteristics of carbonaceous aerosols at Agra "World heritage site" and Delhi "capital city of India".

    PubMed

    Pipal, A S; Tiwari, S; Satsangi, P G; Taneja, Ajay; Bisht, D S; Srivastava, A K; Srivastava, M K

    2014-01-01

    Agra, one of the oldest cities "World Heritage site", and Delhi, the capital city of India are both located in the border of Indo-Gangetic Plains (IGP) and heavily loaded with atmospheric aerosols due to tourist place, anthropogenic activities, and its topography, respectively. Therefore, there is need for monitoring of atmospheric aerosols to perceive the scenario and effects of particles over northern part of India. The present study was carried out at Agra (AGR) as well as Delhi (DEL) during winter period from November 2011 to February 2012 of fine particulate (PM₂.₅: d < 2.5 μm) as well as associated carbonaceous aerosols. PM₂.₅ was collected at both places using medium volume air sampler (offline measurement) and analyzed for organic carbon (OC) and elemental carbon (EC). Also, simultaneously, black carbon (BC) was measured (online) at DEL. The average mass concentration of PM₂.₅ was 165.42 ± 119.46 μg m(-3) at AGR while at DEL it was 211.67 ± 41.94 μg m(-3) which is ~27% higher at DEL than AGR whereas the BC mass concentration was 10.60 μg m(-3). The PM₂.₅ was substantially higher than the annual standard stipulated by central pollution control board and United States Environmental Protection Agency standards. The average concentrations of OC and EC were 69.96 ± 34.42 and 9.53 ± 7.27 μm m(-3), respectively. Total carbon (TC) was 79.01 ± 38.98 μg m(-3) at AGR, while it was 50.11 ± 11.93 (OC), 10.67 ± 3.56 μg m(-3) (EC), and 60.78 ± 14.56 μg m(-3) (TC) at DEL. The OC/EC ratio was 13.75 at (AGR) and 5.45 at (DEL). The higher OC/EC ratio at Agra indicates that the formation of secondary organic aerosol which emitted from variable primary sources. Significant correlation between PM₂.₅ and its carbonaceous species were observed indicating similarity in sources at both sites. The average concentrations of secondary organic carbon (SOC) and primary organic carbon (POC) at AGR were 48.16 and 26.52 μg m(-3) while at DEL it was 38.78 and 27.55 μg m(-3), respectively. In the case of POC, similar concentrations were observed at both places but in the case of SOC higher over AGR by 24 in comparison to DEL, it is due to the high concentration of OC over AGR. Secondary organic aerosol (SOA) was 42% higher at AGR than DEL which confirms the formation of secondary aerosol at AGR due to rural environment with higher concentrations of coarse mode particles. The SOA contribution in PM₂.₅ was also estimated and was ~32 and 12% at AGR and DEL respectively. Being high loading of fine particles along with carbonaceous aerosol, it is suggested to take necessary and immediate action in mitigation of the emission of carbonaceous aerosol in the northern part of India.

  8. Expert Maintenance Advisor Development for Navy Shipboard Systems

    DTIC Science & Technology

    1994-01-01

    Estoril (EDEN) Chair: Xavier Alaman, Instituto de Ingenieria del Conocimiento, SPAIN "A Model of Handling Uncertainty in Expert Systems," 01 Zhao...for Supervisory Process Control," Xavier Alaman, Instituto de Ingenieria del Conocimiento, SPAIN - (L) INTEGRATED KNOWLEDGE BASED SYSTEMS IN POWER

  9. NF-κB1 Rs28362491 Mutant Allele Frequencies along the Silk Road and Beyond.

    PubMed

    Pordel, Safoora; Nemati, Kazem; Karimi, Mohammad Hossein; Doroudchi, Mehrnoosh

    2018-03-01

    In the human evolutionary history, Single Nucleotide Polymorphism (SNP) frequencies are valuable in terms of finding connections between different populations. Due to the pronounced role of the immune system in combating pathogens and environmental stressors, polymorphisms in the immune genes are subject to selection pressure of the diseases as well. The functional polymorphisms in NF-κB1 promoter (-94 ins/del) are associated with different diseases; therefore, we aimed to establish the frequencies of NF-κB1 rs28362491 alleles in a population of Southwestern Iranians in comparison with the world populations. We assessed the polymorphism of -94 ATTG ins/del (rs28362491) in 201 Iranian healthy blood donors from Fars Province, central Iran in a one year period between 2015 and 2016 by PCR-RFLP method using DNA extracted from peripheral blood mononuclear cells. The frequency of ins/ins homozygote genotype was found to be 46.97%. The frequency of heterozygote individuals was 42.42% and the percentage of del/del homozygote genotype was 10.61%. We observed a genetic similarity based on the genotype frequencies of NF-κB1 -94 ins/del ATTG polymorphism between our sample of Iranians with American Jewish, Turkish, American non-Jewish, Chinese-Uyghurs and Germans. The results confirmed genetic interrelation of Iranians with some ancient neighbors and their admixture with countries along the Silk Road. We suggest that mapping the distribution of NF-κB1-94 ATTG ins/del along with HLA genes may help to better define the relations between human populations and design population-specific vaccines for pathogens with a high rate of variation.

  10. [In Process Citation].

    PubMed

    López-Fuenzalida, Antonio; Rodríguez Canales, Carolina; Reyes Ponce, Álvaro; Contreras Molina, Ángela; Fernández Quezada, Javiera; Aguirre Polanco, Carolina

    2016-03-25

    Introducción: dado el incremento del sobrepeso y obesidad infantil, es relevante estudiar no solo las consecuencias metabólicas, sino también aquellas de índole musculoesqueléticas que pueden afectar la funcionalidad motriz, como es el pie plano, en esta población. Objetivo: identificar la asociación entre el estado nutricional y la prevalencia de pie plano en niños y niñas chilenos de 6 a 10 años. Métodos: el z-score del índice de masa corporal (IMC) y el registro y análisis de las huellas plantares según la metodología de Hernández-Corvo fue llevado a cabo en 388 escolares (52,3% niñas). Un test de diferencia para dos proporciones fue utilizado para evaluar las diferencias entre los grupos. Se considera una significancia estadística con p ≤ 0,05. Resultados: la prevalencia del exceso de peso fue de más del 40%. Esta prevalencia fue más alta en las niñas (47,8%) que en los niños (42,7%). La prevalencia de pie plano en todos los niños fue del 17%, presentando valores más elevados el pie derecho (18,3%) que el izquierdo (15,7%). Hay un incremento significativo de la prevalencia de pie plano en los niños obesos en relación con los niños con sobrepeso y normopeso. Conclusión: el estado nutricional está asociado con incrementos en la prevalencia de pie plano en niños. En la población infantil de 6 a 10 años de edad, la obesidad está asociada con la alteración morfológica del pie.

  11. Prevalencia de alteraciones en la interfase vitreoretiniana detectadas mediante tomografía de coherencia óptica de dominio espectral.

    PubMed

    Jacob, Julie; Stalmans, Peter

    2017-07-11

    Objetivo: El objetivo principal del presente estudio consistió en determinar la prevalencia de los cambios en la interfase vitreomacular (IVM) mediante tomografía de coherencia óptica (OCT) en la población general. En segundo lugar, se describieron otros cambios de la OCT. Métodos: Las anomalías en la IVM se diagnosticaron mediante OCT y se distribuyeron de acuerdo con la clasificación del grupo International Vitreomacular Traction Study (estudio internacional de tracción vitreomacular, IVTS, por sus siglas en inglés) y se dividieron en 3 grados según John et al. [Retina 2014;34:442-446]. Resultados: La prevalencia calculada de anomalías vitreomaculares en la población belga de ≥50 años fue del 1,17% [intervalo de confianza (IC 0,38-3,62)] en el caso de tracción vitreomacular (TVM) focal de grado 1; del 0,39% (IC 0,05-2,76) en el caso de TVM focal de grado 2; del 8,17% (IC 5,33-12,53) en el caso de adhesión vitreomacular focal; y del 17,9% (IC 13,41-23,9) en el caso de adhesión vitreomacular difusa. Conclusiones: Se presentó la prevalencia de anomalías vitreomaculares en un estudio de cohortes belga. Estos resultados concuerdan en gran medida con los datos presentados previamente sobre la prevalencia de la TVM. Un conocimiento correcto sobre la epidemiología de las alteraciones en la IVM y un diagnóstico temprano permitirán una intervención satisfactoria. © 2017 S. Karger AG, Basel.

  12. The molecular basis of Canavan (Aspartoacylase deficiency) disease in European non-Jewish patients

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Shaag, A.; Anikster, Y.; Glustein, J.Z.

    Canavan disease is an infantile neurodegenerative disease that is due to aspartoacylase deficiency. The disease has been reported mainly in Ashkenazi Jews but also occurs in other ethnic groups. Determination of enzymatic activity for carrier detection and prenatal diagnosis is considered unreliable. In the present study, nine mutations were found in the aspartoacylase gene of 19 non-Jewish patients. These included four point mutations (A305E [39.5% of the mutated alleles], C218X [15.8%], F2955 [2.6%], and G274R [5.3%]); four deletion mutations (827delGT [5.3%], 870del4 [2.6%], 566del7 [2.6%], and 527del6 [2.6%]); and one exon skip (527del108 [5.3%]). The A305E mutation is pan-European andmore » probably the most ancient mutation, identified in patients of Greek, Polish, Danish, French, Spanish, Italian, and British origin. In contrast, the G274R and 527del108 mutations were found only in patients of Turkish origin, and the C218X mutation was identified only in patients of Gypsy origin. Homozygosity for the A305E mutation was identified in patients with both the severe and the mild forms of Canavan disease. Mutations were identified in 31 of the 38 alleles, resulting in an overall detection rate of 81.6%. All nine mutations identified in non-Jewish patients reside in exons 4-6 of the aspartoacylase gene. The results would enable accurate genetic counseling in the families of 13 (68.4%) of 19 patients, in whom two mutations were identified in the aspartoacylase cDNA. 19 refs., 9 figs., 3 tabs.« less

  13. North-South Gradients in Carbon Isotopic Compositions of Atlantic Ocean Black Shales: Evidence for Paleohydrologic Influences on Mid-Cretaceous Black Shale Deposition

    NASA Astrophysics Data System (ADS)

    Meyers, P. A.

    2013-12-01

    Organic del13C values of organic-carbon-rich Albian-Cenomanian-Turonian black shales from a north-south transect of the Atlantic Ocean have been compiled to explore for possible existence of latitudinal patterns. Black shales at equatorial sites have mean del13C values of -28 per mil, whereas black shales at mid-latitude sites have mean del13C values around -25 per mil. The mid-Cretaceous del13C values are routinely lower than those of modern marine sediments. The more negative Cretaceous del13C values generally reflect concentrations of atmospheric CO2 that were four to six times higher than today, but the geographic differences imply a regional overprint on this global feature. Latitudinal differences in oceanic temperature might be a factor, but a low thermal gradient from the poles to the equator during the mid-Cretaceous makes this factor not likely to be significant. Instead, a correspondence between the geographic differences in the organic del13C values of black shales with the modern latitudinal precipitation pattern suggests that differences in precipitation are a more likely factor. Establishment of a strongly salinity-stratified near-surface ocean and magnified delivery of land-derived phosphorus by continental runoff during this time of a magnified hydrologic cycle were evidently significant to deposition of marine black shales. A likely scenario is that the stratification resulted in blooms of nitrogen-fixing bacteria that become the dominant photoautotrophs and thereby stimulated primary production of organic matter. Regional differences in precipitation resulted in different amounts of runoff, consequent stratification, enhancement of primary production, and therefore the different carbon isotopic compositions of the black shales.

  14. Esquizofrenia y trastorno en el consumo de sustancias: prevalencia y characterísticas sociodemográficas en la población Latina

    PubMed Central

    Jiménez-Castro, Lorena; Raventós-Vorst, Henriette; Escamilla, Michael

    2012-01-01

    El interés por comprender la co-morbilidad de la esquizofrenia y el trastorno en el uso de sustancias, ha aumentado debido al incremento de este diagnóstico, a los efectos negativos observados en el sujeto y a los costos en los servicios de salud. Este trastorno dual puede tener efectos dramáticos en el curso clínico del trastorno psicótico tales como: mayores recaídas, re-hospitalizaciones, síntomas más severos, no adherencia al tratamiento antipsicótico, cambios marcados del humor, aumento en el grado de hostilidad e ideación suicida, así como alteraciones en otras áreas del funcionamiento incluyendo violencia, victimización, indigencia y problemas legales. La literatura proveniente en particular de Estados Unidos y Europa sugiere que el rango de prevalencia para este diagnóstico puede oscilar entre el 10% hasta el 70%. En este estudio, revisamos la prevalencia del diagnóstico dual de esquizofrenia y trastorno en el uso sustancias, así como sus características sociodemográficas, con base en la literatura disponible alrededor del mundo dando énfasis en la poblacion latina. A pesar de que este diagnóstico es ampliamente aceptado, se conoce poco sobre su prevalencia en la población latina, sobre los factores ambientales, demográficos, clínicos y otras características de estos individuos. Un mejor conocimiento sobre este diagnóstico permitiría mejorar los métodos para la detección y adecuada valoración del trastorno en el uso de sustancias en personas con trastornos metales severos como la esquizofrenia. PMID:21404151

  15. Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide

    PubMed Central

    2012-01-01

    Background While lenalidomide (LEN) shows high efficacy in myelodysplastic syndromes (MDS) with del[5q], responses can be also seen in patients presenting without del[5q]. We hypothesized that improved detection of chromosomal abnormalities with new karyotyping tools may better predict response to LEN. Design and methods We have studied clinical, molecular and cytogenetic features of 42 patients with MDS, myeloproliferative neoplasms (MPN), MDS/MPN overlap syndromes and secondary acute myeloid leukemia (sAML) without del[5q] by metaphase cytogenetics (MC) who underwent therapy with LEN. Results Fluorescence in situ hybridization (FISH) or single nucleotide polymorphism array (SNP-A)-based karyotyping marginally increased the diagnostic yield over MC, detecting 2/42 (4.8%) additional cases with del[5q], one of whom were responded to LEN. Responses were more often observed in patients with a normal karyotype by MC (60% vs abnormal MC; 17%, p = .08) and those with gain of chromosome 8 material by either of all 3 karyotyping methods (83% vs all other chromosomal abnormalities; 44% p = .11). However, 5 out of those 6 patients received combined LEN/AZA therapy and it may also suggest those with gain of chromosome 8 material respond well to AZA. The addition of FISH or SNP-A did not improve the predictive value of normal cytogenetics by MC. Mutational analysis of TET2, UTX, CBL, EZH2, ASXL1, TP53, RAS, IDH1/2, and DNMT-3A was performed on 21 of 41 patients, and revealed 13 mutations in 11 patients, but did not show any molecular markers of responsiveness to LEN. Conclusions Normal karyotype and gain of chromosome 8 material was predictive of response to LEN in non-del[5q] patients with myeloid malignancies. PMID:22390313

  16. Major repeat components covering one-third of the ginseng (Panax ginseng C.A. Meyer) genome and evidence for allotetraploidy.

    PubMed

    Choi, Hong-Il; Waminal, Nomar E; Park, Hye Mi; Kim, Nam-Hoon; Choi, Beom Soon; Park, Minkyu; Choi, Doil; Lim, Yong Pyo; Kwon, Soo-Jin; Park, Beom-Seok; Kim, Hyun Hee; Yang, Tae-Jin

    2014-03-01

    Ginseng (Panax ginseng) is a famous medicinal herb, but the composition and structure of its genome are largely unknown. Here we characterized the major repeat components and inspected their distribution in the ginseng genome. By analyzing three repeat-rich bacterial artificial chromosome (BAC) sequences from ginseng, we identified complex insertion patterns of 34 long terminal repeat retrotransposons (LTR-RTs) and 11 LTR-RT derivatives accounting for more than 80% of the BAC sequences. The LTR-RTs were classified into three Ty3/gypsy (PgDel, PgTat and PgAthila) and two Ty1/Copia (PgTork and PgOryco) families. Mapping of 30-Gbp Illumina whole-genome shotgun reads to the BAC sequences revealed that these five LTR-RT families occupy at least 34% of the ginseng genome. The Ty3/Gypsy families were predominant, comprising 74 and 33% of the BAC sequences and the genome, respectively. In particular, the PgDel family accounted for 29% of the genome and presumably played major roles in enlargement of the size of the ginseng genome. Fluorescence in situ hybridization (FISH) revealed that the PgDel1 elements are distributed throughout the chromosomes along dispersed heterochromatic regions except for ribosomal DNA blocks. The intensity of the PgDel2 FISH signals was biased toward 24 out of 48 chromosomes. Unique gene probes showed two pairs of signals with different locations, one pair in subtelomeric regions on PgDel2-rich chromosomes and the other in interstitial regions on PgDel2-poor chromosomes, demonstrating allotetraploidy in ginseng. Our findings promote understanding of the evolution of the ginseng genome and of that of related species in the Araliaceae. © 2014 The Authors The Plant Journal © 2014 John Wiley & Sons Ltd.

  17. A switch from parallel to antiparallel strand orientation in a coiled-coil X-ray structure via two core hydrophobic mutations

    DOE PAGES

    Malashkevich, Vladimir N.; Higgins, Chelsea D.; Almo, Steven C.; ...

    2015-05-06

    The coiled-coil is one of the most ubiquitous and well studied protein structural motifs. Significant effort has been devoted to dissecting subtle variations of the typical heptad repeat sequence pattern that can designate larger topological features such as relative α-helical orientation and oligomer size. Here in this paper we report the X-ray structure of a model coiled-coil peptide, HA2-Del-L2seM, which forms an unanticipated core antiparallel dimer with potential sites for discrete higher-order multimerization (trimer or tetramer). In the X-ray structure, a third, partially-ordered α-helix is weakly associated with the antiparallel dimer and analytical ultracentrifugation experiments indicate the peptide forms amore » well-defined tetramer in solution. The HA2-Del-L2seM sequence is closely related to a parent model peptide, HA2-Del, which we previously reported adopts a parallel trimer; HA2-Del-L2seM differs by only hydrophobic leucine to selenomethione mutations and thus this subtle difference is sufficient to switch both relative α-helical topology and number of α-helices participating in the coiled-coil. Comparison of the X-ray structures of HA2-Del-L2seM (reported here) with the HA2-Del parent (reported previously) reveals novel interactions involving the selenomethionine residues that promote antiparallel coiled-coil configuration and preclude parallel trimer formation. Finally, these novel atomic insights are instructive for understanding subtle features that can affect coiled-coil topology and provide additional information for design of antiparallel coiled-coils.« less

  18. The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

    PubMed

    Seemanova, Eva; Varon, Raymonda; Vejvalka, Jan; Jarolim, Petr; Seeman, Pavel; Chrzanowska, Krystyna H; Digweed, Martin; Resnick, Igor; Kremensky, Ivo; Saar, Kathrin; Hoffmann, Katrin; Dutrannoy, Véronique; Karbasiyan, Mohsen; Ghani, Mehdi; Barić, Ivo; Tekin, Mustafa; Kovacs, Peter; Krawczak, Michael; Reis, André; Sperling, Karl; Nothnagel, Michael

    2016-01-01

    The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21. This mutation is essentially confined to Slavic populations and may thus be considered a Slavic founder mutation. Notably, not a single parenthood of a homozygous c.657del5 carrier has been reported to date, while heterozygous carriers do reproduce but have an increased cancer risk. These observations seem to conflict with the considerable carrier frequency of c.657del5 of 0.5% to 1% as observed in different Slavic populations because deleterious mutations would be eliminated quite rapidly by purifying selection. Therefore, we propose that heterozygous c.657del5 carriers have increased reproductive success, i.e., that the mutation confers heterozygote advantage. In fact, in our cohort study of the reproductive history of 24 NBS pedigrees from the Czech Republic, we observed that female carriers gave birth to more children on average than female non-carriers, while no such reproductive differences were observed for males. We also estimate that c.657del5 likely occurred less than 300 generations ago, thus supporting the view that the original mutation predated the historic split and subsequent spread of the 'Slavic people'. We surmise that the higher fertility of female c.657del5 carriers reflects a lower miscarriage rate in these women, thereby reflecting the role of the NBN gene product, nibrin, in the repair of DNA double strand breaks and their processing in immune gene rearrangements, telomere maintenance, and meiotic recombination, akin to the previously described role of the DNA repair genes BRCA1 and BRCA2.

  19. Harnessing Omics Big Data in Nine Vertebrate Species by Genome-Wide Prioritization of Sequence Variants with the Highest Predicted Deleterious Effect on Protein Function.

    PubMed

    Rozman, Vita; Kunej, Tanja

    2018-05-10

    Harnessing the genomics big data requires innovation in how we extract and interpret biologically relevant variants. Currently, there is no established catalog of prioritized missense variants associated with deleterious protein function phenotypes. We report in this study, to the best of our knowledge, the first genome-wide prioritization of sequence variants with the most deleterious effect on protein function (potentially deleterious variants [pDelVars]) in nine vertebrate species: human, cattle, horse, sheep, pig, dog, rat, mouse, and zebrafish. The analysis was conducted using the Ensembl/BioMart tool. Genes comprising pDelVars in the highest number of examined species were identified using a Python script. Multiple genomic alignments of the selected genes were built to identify interspecies orthologous potentially deleterious variants, which we defined as the "ortho-pDelVars." Genome-wide prioritization revealed that in humans, 0.12% of the known variants are predicted to be deleterious. In seven out of nine examined vertebrate species, the genes encoding the multiple PDZ domain crumbs cell polarity complex component (MPDZ) and the transforming acidic coiled-coil containing protein 2 (TACC2) comprise pDelVars. Five interspecies ortho-pDelVars were identified in three genes. These findings offer new ways to harness genomics big data by facilitating the identification of functional polymorphisms in humans and animal models and thus provide a future basis for optimization of protocols for whole genome prioritization of pDelVars and screening of orthologous sequence variants. The approach presented here can inform various postgenomic applications such as personalized medicine and multiomics study of health interventions (iatromics).

  20. Calcium isotope systematics in small upland catchments affected by spruce dieback in the period of extreme acid rain (1970-1990)

    NASA Astrophysics Data System (ADS)

    Novak, Martin; Farkas, Juraj; Holmden, Chris; Hruska, Jakub; Curik, Jan; Stepanova, Marketa; Prechova, Eva; Veselovsky, Frantisek; Komarek, Arnost

    2017-04-01

    Recently, new isotope tools have become available to study the behavior of nutrients in stressed ecosystems. In this study, we focus on changes in the abundance ratio of calcium (Ca) isotopes accompanying biogeochemical processes in small forested catchments. We monitored del44Ca values in ecosystem pools and fluxes in four upland sites situated in the Czech Republic, Central Europe. A heavily acidified site in the Eagle Mts. (northern Czech Republic) experienced 13 times higher atmospheric Ca inputs, compared to the other three sites, which were less affected by forest decline. Industrial dust was responsible for the elevated Ca input. Del44Ca values of individual poos/fluxes were used to identify Ca sources for the bioavailable Ca soil reservoir and for runoff. The bedrock of the study sites differed (leucogranite, orthogneiss vs. serpentinite and amphibolite). Across the sites, mean del44Ca values increased in the order: spruce bark < fine roots < needles < soil < bedrock < canopy throughfall < open-area precipitation < runoff < soil water. Plant preferentially took up isotopically light Ca, while residual isotopically heavy Ca was sorbed to soil particles or exported via runoff. Even at sites with a low del44Ca values of bedrock, runoff had a high del44Ca value. At the base-poor site, most runoff came from atmospheric deposition and residual Ca following plant uptake. It appeared that bedrock weathering did not supply enough Ca to replenish the bioavailable Ca pool in the soil. Currently, we are analyzing Ca isotope composition of individual rock-forming minerals to better assess the effect of different weathering rates of minerals with low/high radiogenic 40Ca contents on runoff del44Ca.

  1. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Patrick, N.; Miyakawa, F.; Hunt, J.A.

    The distribution of {beta}-thalassemia [{beta}{sup Th}] mutations is unique to each ethnic group. Most mutations affect one or a few bases; large deletions have been rare. Among families screened in Hawaii, [{beta}{sup Th}] heterozygotes were diagnosed by microcytosis, absence of abnormal hemoglobins on isoelectric focusing, and raised Hb A{sub 2} by chromatography. Gene frequency for {beta}{sup Th} was 0.02 in Filipinos. In Filipinos, polymerase chain reaction [PCR] with denaturing gradient gel electrophoresis for {beta}{sup Th} mutations detected a mutation in only 6 of 42 {beta}{sup Th} heterozygotes; an IVS2-666 C/T polymorphism showed non-heterozygosity in 37 and heterozygosity in only 5more » of these {beta}{sup Th} heterozygotes. One {beta}{sup Th}/{beta}{sup Th} major patient and his mother had no mutation detected by allele-specific oligomer hybridization; PCR failed to amplify any DNA from his {beta}-globin gene. After a total {beta}-globin gene deletion [{beta}{sup Del}] was found in a Filipino family in Ontario, specific PCR amplification for {beta}{sup Del} detected this in 43 of 53 {beta}{sup Th} Filipino samples tested; the above {beta}{sup Th}/{beta}{sup Th} patient was a ({beta}{sup Del}/{beta}{sup Del}) homozygote. The {beta}{sup Del} may account for over 60% of all {beta}{sup Th} alleles in Filipinos; this is the highest proportion of a deletion {beta}{sup Th} mutation reported from any population. Most but not all {beta}{sup Del} heterozygotes had high Hb F [5.13 {plus_minus} 3.94 mean {plus_minus} 1 s.d.] compared to the codon 41/42 four base deletion common in Chinese [2.30 {plus_minus} 0.86], or to {beta}{sup Th} heterozygotes with normal {alpha}-globin genes [2.23 {plus_minus} 0.80].« less

  2. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

    PubMed Central

    Arbogast, Thomas; Iacono, Giovanni; Chevalier, Claire; Afinowi, Nurudeen O.; Houbaert, Xander; Laliberte, Christine; Birling, Marie-Christine; Linda, Katrin; Meziane, Hamid; Selloum, Mohammed; Sorg, Tania; Koolen, David A.; Stunnenberg, Henk G.; Kopanitsa, Maksym; Humeau, Yann; De Vries, Bert B. A.

    2017-01-01

    Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The syndrome is caused either by microdeletions in the 17q21.31 chromosomal region or by variants in the KANSL1 gene. The reciprocal 17q21.31 microduplication syndrome is associated with psychomotor delay, and reduced social interaction. To investigate the pathophysiology of 17q21.31 microdeletion and microduplication syndromes, we generated three mouse models: 1) the deletion (Del/+); or 2) the reciprocal duplication (Dup/+) of the 17q21.31 syntenic region; and 3) a heterozygous Kansl1 (Kans1+/-) model. We found altered weight, general activity, social behaviors, object recognition, and fear conditioning memory associated with craniofacial and brain structural changes observed in both Del/+ and Dup/+ animals. By investigating hippocampus function, we showed synaptic transmission defects in Del/+ and Dup/+ mice. Mutant mice with a heterozygous loss-of-function mutation in Kansl1 displayed similar behavioral and anatomical phenotypes compared to Del/+ mice with the exception of sociability phenotypes. Genes controlling chromatin organization, synaptic transmission and neurogenesis were upregulated in the hippocampus of Del/+ and Kansl1+/- animals. Our results demonstrate the implication of KANSL1 in the manifestation of KdVS phenotypes and extend substantially our knowledge about biological processes affected by these mutations. Clear differences in social behavior and gene expression profiles between Del/+ and Kansl1+/- mice suggested potential roles of other genes affected by the 17q21.31 deletion. Together, these novel mouse models provide new genetic tools valuable for the development of therapeutic approaches. PMID:28704368

  3. Estrategia innovadora enfocada en parejas del mismo sexo para disminuir la infección del VIH en hombres Latinos

    PubMed Central

    Martinez, Omar; Wu, Elwin; Sandfort, Theo; Shultz, Andrew Z.; Capote, Jonathan; Chávez, Silvia; Moya, Eva; Dodge, Brian; Morales, Gabriel; Porras, Antonio; Ovejero, Hugo

    2014-01-01

    Resumen El VIH es un problema de salud importante dentro de la comunidad latina de los Estados Unidos. Gracias a los esfuerzos de prevención, los niveles de contagio entre los latinos se han mantenido estables por más de una década. Sin embargo, esta población sigue siendo afectada a niveles muy altos, en particular entre hombres que tienen sexo con hombres (HSH), de origen latino y que hablan principalmente el idioma español. Existen varios factores que contribuyen a la transmisión del VIH entre esta población, como son: el uso de drogas; la violencia dentro de la pareja; la presencia de infecciones de transmisión sexual; relaciones sexuales sin protección, dentro y fuera de la pareja; el evadir la búsqueda de recursos (prueba y tratamiento adecuado) por temor a ser discriminado o por su estatus migratorio; la escasez de recursos económicos o estado de pobreza y los patrones relacionados a la migración. En particular, Investigaciones Epidemiológicas de Comportamientos han determinado: cómo algunas dinámicas en parejas están directamente asociadas a los comportamientos sexuales de riesgos. En consecuencia, es necesaria mayor investigación para identificar esas dinámicas, y a su vez, realizar intervenciones dirigidas a la reducción de conductas de riesgo enfocadas en parejas de hombres del mismo sexo. En este escrito, se describe la importancia del uso de las relaciones de pareja como estrategia en la reducción de la trasmisión del VIH/SIDA en HSH de origen latino y que hablan principalmente el idioma español en los Estados Unidos. PMID:25580466

  4. Changing Incidence of Cystic Fibrosis in Wisconsin, USA

    PubMed Central

    Bersie, Rachel; Hoffman, Gary; Rock, Michael; Baker, Mei; Farrell, Philip M.; Simpson, Pippa; Levy, Hara

    2015-01-01

    Summary Rationale Previous investigations of cystic fibrosis (CF) incidence in Massachusetts, Colorado, and Minnesota (USA) yielded contradictory results, particularly regarding allele p.Phe508del; the racial compositions of the cohorts were not reported. Objectives To clarify discrepancies in reported incidence with the ultimate goal of improving screening and quality of care, we assessed CF incidence, stratified by race and mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in Wisconsin (USA) from 1994 to 2011. Methods Data on patients diagnosed with CF (N=283), CFTR genotypes, CF carriers, and birth rate were collected. All data were categorized by racial background of the birth mother and the incidence of CF births was accordingly adjusted. Spearman’s nonparametric rank correlation and Fisher’s exact test were performed for continuous and categorical variables, respectively. Trends over time were fitted with a cubic spline. Results We detected a trending increase in CF cases (range within all data 1.67–2.98 per 10,000 births per year), homozygous p.Phe508del cases (0.57–1.79 per 10,000), heterozygous p.Phe508del cases (0.29–1.55 per 10,000), and cases lacking p. Phe508del (0–0.45 per 10,000). Both the number of cases lacking the p.Phe508del mutation per year and the number of cases lacking p.Phe508del per 10,000 births significantly increased (P=0.05) from 1994 to 2011; the increase in overall incidence was not significant. The number of carriers identified through newborn screening significantly increased within the non-Hispanic Black (P=0.0.021) and Hispanic (P=0.003) populations. Conclusion The racial composition of the CF cohort is changing in Wisconsin, possibly influencing disease detection, care, and outcome. PMID:26258862

  5. Changing incidence of cystic fibrosis in Wisconsin, USA.

    PubMed

    Parker-McGill, Katelyn; Nugent, Melodee; Bersie, Rachel; Hoffman, Gary; Rock, Michael; Baker, Mei; Farrell, Philip M; Simpson, Pippa; Levy, Hara

    2015-11-01

    Previous investigations of cystic fibrosis (CF) incidence in Massachusetts, Colorado, and Minnesota (USA) yielded contradictory results, particularly regarding allele p.Phe508del; the racial compositions of the cohorts were not reported. To clarify discrepancies in reported incidence with the ultimate goal of improving screening and quality of care, we assessed CF incidence, stratified by race and mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in Wisconsin (USA) from 1994 to 2011. Data on patients diagnosed with CF (N = 283), CFTR genotypes, CF carriers, and birth rate were collected. All data were categorized by racial background of the birth mother and the incidence of CF births was accordingly adjusted. Spearman's nonparametric rank correlation and Fisher's exact test were performed for continuous and categorical variables, respectively. Trends over time were fitted with a cubic spline. We detected a trending increase in CF cases (range within all data 1.67-2.98 per 10,000 births per year), homozygous p.Phe508del cases (0.57-1.79 per 10,000), heterozygous p.Phe508del cases (0.29-1.55 per 10,000), and cases lacking p.Phe508del (0-0.45 per 10,000). Both the number of cases lacking the p.Phe508del mutation per year and the number of cases lacking p.Phe508del per 10,000 births significantly increased (P = 0.05) from 1994 to 2011; the increase in overall incidence was not significant. The number of carriers identified through newborn screening significantly increased within the non-Hispanic Black (P = 0.0.021) and Hispanic (P = 0.003) populations. The racial composition of the CF cohort is changing in Wisconsin, possibly influencing disease detection, care, and outcome. © 2015 Wiley Periodicals, Inc.

  6. Nature and Recurrence of AVPR2 Mutations in X-linked Nephrogenic Diabetes Insipidus

    PubMed Central

    Bichet, Daniel G.; Birnbaumer, Mariel; Lonergan, Michèle; Arthus, Marie-Françoise; Rosenthal, Walter; Goodyer, Paul; Nivet, Hubert; Benoit, Stéphane; Giampietro, Philip; Simonetti, Simonetta; Fish, Alfred; Whitley, Chester B.; Jaeger, Philippe; Gertner, Joseph; New, Maria; DiBona, Francis J.; Kaplan, Bernard S.; Robertson, Gary L.; Hendy, Geoffrey N.; Fujiwara, T. Mary; Morgan, Kenneth

    1994-01-01

    X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine-vasopressin V2 receptor responses due to mutations in the AVPR2 gene in Xq28. We analyzed 31 independent NDI families to determine the nature and recurrence of AVPR2 mutations. Twenty-one new putative disease-causing mutations were identified: 113delCT, 253del35, 255del9, 274insG, V88M, R106C, 402delCT, C112R, Y124X, S126F, W164S, S167L, 684delTA, 804insG, W284X, A285P, W293X, R337X, and three large deletions or gene rearrangements. Five other mutations—R113W, Y128S, R137H, R181C, and R202C—that previously had been reported in other families were detected. There was evidence for recurrent mutation for four mutations (R113W, R137H, S167L, and R337X). Eight de novo mutation events were detected (274insG, R106C, Y128S, 167L [twice], R202C, 684delTA, and R337X). The origins were maternal (one), grandmaternal (one), and grandpaternal (six). In the 31 NDI families and 6 families previously reported by us, there is evidence both for mutation hot spots for nucleotide substitutions and for small deletions and insertions. More than half (58%) of the nucleotide substitutions in 26 families could be a consequence of 5-methylcytosine deamination at a CpG dinucleotide. Most of the small deletions and insertions could be attributed to slipped mispairing during DNA replication. PMID:8037205

  7. Distinción Empírica Entre Engagement y Trabajolismo en Enfermeras Hospitalarias de Japón: Efecto Sobre la Calidad del Sueño y el Desempeño Laboral

    PubMed Central

    Kubota, Kazumi; Shimazu, Akihito; Kawakami, Norito; Takahashi, Masaya; Nakata, Akinori; Schaufeli, Wilmar B.

    2016-01-01

    Objetivo El objetivo de este estudio es demostrar la distinción entre engagement y trabajolismo, estudiando su relación con la calidad del sueño y el desempeño laboral. Método Un total de 447 enfermeras de 3 hospitales de Japón fueron entrevistadas mediante un cuestionario autoadministrado que incluía la escala Utrecht (UWES, Utrecht Work Engagement Scale), la Escala de Adicción al Trabajo Holandesa (DUWAS, Dutch Workaholism Scale), preguntas sobre la calidad del sueño (7 ítems) con respecto a (1) dificultad para conciliar el sueño, (2) dificultad para mantener el sueño, (3) despertar temprano por la mañana, (4) dormirse o tomar siestas durante el día, (5) somnolencia diurna excesiva en el trabajo, (6) dificultad para despertarse por la mañana, y (7) despertar cansado en la mañana, y el Cuestionario sobre Salud y Desempeño (CSD) de la Organización Mundial de la Salud. Resultados Los modelos de ecuaciones estructurales demostraron que el engagement se relaciona positivamente con la calidad del sueño y el rendimiento laboral, mientras que el trabajolismo tiene una relación negativa con la calidad del sueño y el desempeño laboral. Conclusión Los resultados indican que el engagement y el trabajolismo son conceptualmente diferentes. El primero tiene una connotación positiva, mientras que el segundo se asocia de manera negativa al bienestar (buena calidad del sueño y buen rendimiento en el trabajo). PMID:26752805

  8. Paradoxical leanness in the imprinting-centre deletion mouse model for Prader-Willi syndrome.

    PubMed

    Golding, David M; Rees, Daniel J; Davies, Jennifer R; Relkovic, Dinko; Furby, Hannah V; Guschina, Irina A; Hopkins, Anna L; Davies, Jeffrey S; Resnick, James L; Isles, Anthony R; Wells, Timothy

    2017-01-01

    Prader-Willi syndrome (PWS), a neurodevelopmental disorder caused by loss of paternal gene expression from 15q11-q13, is characterised by growth retardation, hyperphagia and obesity. However, as single gene mutation mouse models for this condition display an incomplete spectrum of the PWS phenotype, we have characterised the metabolic impairment in a mouse model for 'full' PWS, in which deletion of the imprinting centre (IC) abolishes paternal gene expression from the entire PWS cluster. We show that PWS-IC del mice displayed postnatal growth retardation, with reduced body weight, hyperghrelinaemia and marked abdominal leanness; proportionate retroperitoneal, epididymal/omental and inguinal white adipose tissue (WAT) weights being reduced by 82%, 84% and 67%, respectively. PWS-IC del mice also displayed a 48% reduction in proportionate interscapular brown adipose tissue (isBAT) weight with significant 'beiging' of abdominal WAT, and a 2°C increase in interscapular surface body temperature. Maintenance of PWS-IC del mice under thermoneutral conditions (30°C) suppressed the thermogenic activity in PWS-IC del males, but failed to elevate the abdominal WAT weight, possibly due to a normalisation of caloric intake. Interestingly, PWS-IC del mice also showed exaggerated food hoarding behaviour with standard and high-fat diets, but despite becoming hyperphagic when switched to a high-fat diet, PWS-IC del mice failed to gain weight. This evidence indicates that, unlike humans with PWS, loss of paternal gene expression from the PWS cluster in mice results in abdominal leanness. Although reduced subcutaneous insulation may lead to exaggerated heat loss and thermogenesis, abdominal leanness is likely to arise from a reduced lipid storage capacity rather than increased energy utilisation in BAT. © 2017 The authors.

  9. Faculty Activity Analysis in the Universidad Tecnica Del Estado Campuses.

    ERIC Educational Resources Information Center

    Karadima, Oscar

    An analysis of academic activities of college faculty at the eight campuses of Chile's Universidad Tecnica del Estado was conducted. Activities were grouped into seven categories: direct teaching, indirect teaching, research, community services, faculty development, academic administration, and other activities. Following the narrative…

  10. Información básica sobre la visibilidad

    EPA Pesticide Factsheets

    La contaminación del aire puede generar bruma la cual tiene un impacto adverso en la visibilidad, la salud y el medioambiente. La bruma se produce cuando la luz del sol encuentra diminutas partículas de contaminación en el aire.

  11. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Schuffenhauer, S.; Daumer-Haas, C.; Murken, J.

    Karyotypes with an interstitial deletion and a marker chromosome formed from the deleted segment are rare. We identified such a rearrangement in a newborn infant, who presented with macrocephaly, asymmetric square skull, minor facial anomalies, omphalocele, inguinal hernias, hypospadias, and club feet. The karyotype 46,XY,del(5)(pter{r_arrow}p13::cen{r_arrow}qter)/47,XY,+dicr(5)(:p13{r_arrow}cen::p13{r_arrow}cen),del(5)(pter{r_arrow}p13::cen{r_arrow}qter) was identified by banding studies and FISH analysis in the peripheral lymphocytes. One breakpoint on the del(5) maps distal to GDNF, and FISH analysis using an {alpha}-satellite probe suggests that the proximal breakpoint maps within the centromere. The dicentric r(5) consists of two copies of the segment deleted in the del(5), resulting in trisomy ofmore » proximal 5p (5p13-cen). The phenotype of the propositus is compared with other trisomy 5p cases and possible mechanisms for the generation of this unique chromosomal rearrangement are discussed. 27 refs., 3 figs.« less

  12. Biotic association and palaeoenvironmental reconstruction of the "Loma del Pterodaustro" fossil site (Early Cretaceous, Argentina)

    USGS Publications Warehouse

    Chiappe, L.; Rivarola, D.; Cione, A.; Fregenal-Martinez, M.; Sozzi, H.; Buatois, L.; Gallego, O.; Laza, J.; Romero, E.; Lopez-Arbarello, A.; Buscalioni, A.; Marsicano, C.; Adamonis, S.; Ortega, F.; McGehee, S.; Di, Iorio O.

    1998-01-01

    A sedimentological analysis of the basal section of the Early Cretaceous, lacustrine Lagarcito Formation at "Loma del Pterodaustro" (San Luis, Argentina) and a summary of its biological components are presented. Three sedimentological facies can be recognized in the basal sequence of the Lagarcito Formation. Fossil remains are particularly abundant in laminated claystones of a facies interpreted as deposits formed in offshore areas of the lake. The preservation of delicate structures allows recognition of these deposits as a Konservat Lagersta??tte. Up to now, rocks at "Loma del Pterodaustro" have yielded plants, conchostracans, semionotid and pleuropholid fishes, pterodactyloid pterosaurs, and a variety of invertebrate traces. The chronology of the Lagarcito Formation is discussed and it is concluded that this unit is of Albian age. The palaeoenvironment of deposition of the basal sequence of the Lagarcito Formation at "Loma del Pterodaustro" is interpreted as a perennial, shallow lake developed within an alluvial plain, under semiarid climatic conditions.

  13. Role of casein kinase 1A1 in the biology and targeted therapy of del(5q) MDS

    PubMed Central

    Schneider, Rebekka K.; Ademà, Vera; Heckl, Dirk; Järås, Marcus; Mallo, Mar; Lord, Allegra M.; Chu, Lisa P.; McConkey, Marie E.; Kramann, Rafael; Mullally, Ann; Bejar, Rafael; Solé, Francesc; Ebert, Benjamin L.

    2014-01-01

    Summary The Casein kinase 1A1 gene (CSNK1A1) is a putative tumor suppressor gene located in the common deleted region for del(5q) myelodysplastic syndrome (MDS). We generated a murine model with conditional inactivation of Csnk1a1 and found that Csnk1a1 haploinsufficiency induces hematopoietic stem cell expansion and a competitive repopulation advantage whereas homozygous deletion induces hematopoietic stem cell failure. Based on this finding, we found that heterozygous inactivation of Csnk1a1 sensitizes cells to a CSNK1 inhibitor relative to cells with two intact alleles. In addition, we identified recurrent somatic mutations in CSNK1A1 on the non-deleted allele of patients with del(5q) MDS. These studies demonstrate that CSNK1A1 plays a central role in the biology of del(5q) MDS and is a promising therapeutic target. PMID:25242043

  14. Relevamiento total del hemisferio sur celeste en la frecuencia de 1420 MHz

    NASA Astrophysics Data System (ADS)

    Bava, J. A.; Colomb, F. R.; Hurrel, E.; Larrarte, J. J.; Sanz, A. J.; Testori, J. C.; Reich, P.; Reich, W.; Wielebinski, R.

    En el presente artículo se describe el relevamiento del cielo en el Hemisferio Sur Celeste en la frecuencia de 1420 MHz para declinaciones δ<= -19o realizado con la Antena II de 30 metros de diámetro del IAR. Este relevamiento posee igual sensibilidad (3xr.m.s=50 mK) que el realizado en el Hemisferio Norte con el radiotelescopio de 25 metros de Stockert de la Universidad de Bonn, operado por el Max-Planck Institute für Radioastronomie ( Reich W., 1982, A&ASS 48, 219; Reich P. and Reich W., 1986, A&ASS 63, 205). Con los datos obtenidos por ambos radiotelescopios se posee una base de datos de todo el cielo en esta frecuencia. En esta publicación presentamos los detalles del sistema receptor, técnicas de observación y reducción de datos, calibración y discusión de los errores en los resultados.

  15. Relevamiento de HI en el Hemisferio Austral

    NASA Astrophysics Data System (ADS)

    Arnal, E. M.; Bajaja, E.; Morras, R.; Pöppel, W. G. L.

    Un nuevo relevamiento de HI de todo el Hemisferio Austral, comprendido entre -90o <= δ <= -25o, está siendo observado con la antena I del IAR. El mismo es realizado con alta sensibilidad (r.m.s.<= 0.07 K) y alta resolución espectral (1 Km/s). Un total de ~50000 posiciones en el cielo serán observadas, espaciadas en una grilla (lxb) de (0.5o x 0.5o). El intervalo de velocidades cubierto en este relevamiento abarca el rango -450 km/s a +450 km/s en el sistema LSR. Esta base de datos será corregida por efectos de ``stray radiation''. Al presente se ha observado ~70% del total del relevamiento. El mismo es complementario de uno similar realizado en el Hemisferio Norte por Hartman y Burton (1996), con cubrimiento espacial, sensibilidad, resoluciones espaciales y en velocidad, similares a los del IAR. El objetivo final de ambos relevamientos es disponer de una base de datos uniforme en todo el cielo.

  16. El contexto de la familia y el vecindario en la salud de los ancianos del estudio EPESE hispano

    PubMed Central

    Reyes-Ortiz, Carlos A.; Camacho, María E.; Eschbach, Karl; Markides, Kyriakos S.

    2014-01-01

    RESUMEN En este artículo se discute el papel de la familia y el vecindario en la salud de los ancianos méjico-americanos del estudio EPESE (Established Populations for Epidemiologic Studies of the Elderly) hispano. La paradoja epidemiológica consiste en que, a pesar de estar en desventaja socioeconómica, los ancianos hispanos tienen mortalidad relativamente menor que los ancianos de raza blanca. Esto es especialmente cierto cuando el anciano vive en los vecindarios donde hay un porcentaje alto de méjico-americanos. La familia también juega un papel importante en estos ancianos al disminuir el riesgo de institucionalización o de morbilidad. Asimismo, el estrés originado en problemas económicos o al depender económicamente de la familia, habiendo inmigrado en edades tardías, puede sobrepasar la capacidad de amortiguamiento del estrés y afectar la salud del anciano méjico-americano. PMID:25190897

  17. PubMed

    Dipierri, José Edgardo; Bronberg, Rubén Adrian

    2017-09-08

    Debido al incremento de casos de microcefalia por virus Zika en Brasil el Ministerio de Salud de Argentina recomienda incrementar la vigilancia de esta malformación. A fin de profundizar el conocimiento del comportamiento epidemiológico de microcefalia en el país se analiza la mortalidad infantil por microcefalia entre 1998-2012. Los datos proceden de la Dirección de Estadísticas e Información de Salud (DEIS). Se calculó por provincias y regiones la tasa de mortalidad infantil por microcefalia (TMI-M) y se realizó un análisis de agrupamiento a nivel departamental. Las tasas más elevadas se observaron en las regiones y provincias del norte del país. La distribución espacial de la TMI-M guarda relación con las prevalencias de microcefalia en recién nacidos. Esta distribución se relaciona con la mayor pobreza y consanguinidad del norte de la Argentina, factores sinérgicos predisponentes de la ocurrencia de malformaciones congénitas en general y de microcefalia en particular.

  18. El diseño final del espectrógrafo de banco (EBASIM) para CASLEO

    NASA Astrophysics Data System (ADS)

    Simmons, J.; Levato, H.

    Utilizando el código de óptica ACCOS V se ha finalizado el diseño del espectrógrafo de banco para CASLEO. En una comunicación anterior habíamos indicado que utilizaríamos un colimador de 150 mm de diámetro con un radio de curvatura de 1540 mm. Para el espejo cámara, que tiene un diámetro de 200 mm, el radio de curvatura es de 1200 mm, ambos radios con una tolerancia no mayor a los 3 mm. En la presente, se informa sobre los detalles finales del cálculo del espectrógrafo que incluye el cómputo para 5 longitudes de onda diferentes y alrededor de 100 rayos. En todos los casos el 75 % de energía está dentro de un diámetro de 13 micrones. El diseño ha sido probado entre 3500 Å hasta 9000 Å con resultados satisfactorios.

  19. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Gompers, Andrea L.; Su-Feher, Linda; Ellegood, Jacob

    The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. In this paper, we examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8 +/ del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8 +/ del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8 +/ del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes andmore » neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8 +/ del5 mice. Finally, this integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.« less

  20. [Effectiveness of azacitidine in chronic myelomonocytic leukemia harboring del(20q) - a case report].

    PubMed

    Manabe, Masahiro; Okita, Junya; Takakuwa, Teruhito; Harada, Naonori; Aoyama, Yasutaka; Kumura, Takeo; Ohta, Tadanobu; Furukawa, Yoshio; Mugitani, Atsuko

    2014-06-01

    A 7 1-year-old man was admitted to our hospital with leukocytosis and anemia. Chronic myelomonocytic leukemia (CMML)harboring del(20q)was diagnosed by peripheral blood examination and bone marrow aspiration. The patient was subsequently treated with azacitidine, which resulted in rapid disappearance of monocytosis and resolved his dependency on red cell transfusion. With regard to the chromosomal abnormality, although del(20q)is estimated to be encountered in approximately 0.7-1.0% of all CMML cases, its significance in prognosis has not been fully analyzed. Hence, more such cases need to be evaluated to elucidate the therapeutic outcome of CMML involving del(20q). In addition, the Wilms tumor-1(WT 1)level in the patient gradually decreased after the initiation of azacitidine therapy. This phenomenon of WT1 decrease synchronizing with the patient's clinical improvement might reflect therapeutic efficacy with regard to the clinical course, as had been observed in acute myeloid leukemia and myelodysplastic syndrome.

  1. Capital social de los padres de escolares de una zona vulnerable.

    PubMed

    Cornejo, Susana; Herrera, Ariel; Hilas, Elena; Gigena, Y Pablo

    2018-01-01

    El capital social supone importantes inversiones materiales, simbólicas y de esfuerzos. Conocer el capital social de una comunidad puede facilitar la comprensión del beneficio de las relaciones comunitarias para la promoción de salud. Con el objetivo de reconocer los componentes del capital social de padres de escolares atendiendo una escuela en una zona vulnerable de la ciudad de Córdoba, Argentina, indagamos a través de grupos focales acerca de elementos esenciales del capital social. La asintonía socio-cultural entre los pobladores originarios y los reubicados, la estigmatización policial y el clientelismo político han generado desconfianza del uno hacia el otro en diferentes aspectos convivenciales, siendo la familia la única red de apoyo. La escuela se reconoce como espacio adonde la gente espontáneamente se organiza para invertir en redes sociales, presentándose así con potencialidad para la promoción de conductas saludables, por el lugar simbólico que ocupa para los padres.

  2. Integrated global background monitoring network. Preliminary results from Torres del Paine and Olympic National Parks

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Wiersma, G.B.; Kohler, A.; Boelcke, C.

    1985-10-01

    During 1984, a pilot project was initiated for monitoring pollution at Torres del Paine National Park in southern Chile and Olympic National Park in the United States. These are two of three initial sites that are to be established as part of an integrated global backgound monitoring network. Eventually, the plan is to establish a world-wide system of such sites. We collected and analyzed samples of the soil, water, air, and two species of plants (moss and lichen). We also collected and analyzed samples of the forest litter. We compared the samples of soil and vegetation against reference samples. Wemore » also compared samples of soil, vegetation, and of organic material from Torres del Paine against similar samples from Olympic and Sequoia-Kings Canyon National Parks in the United States. Although the data is preliminary, it is in agreement with out initial hypothesis that Torres del Paine and Olympic National Parks are not a polluted sites.« less

  3. Funciones de partición atómicas: Fuentes confiables de datos

    NASA Astrophysics Data System (ADS)

    Merlo, D. C.; Milone, L. A.

    Se llevó a cabo una revisión minuciosa del cálculo de funciones de partición atómicas de átomos livianos, en estados neutro y una vez ionizados, partiendo del Hidrógeno y llegando al Sodio, incluyendo también al K I y el Ca II. Al respecto, se realizó una investigación exhaustiva de referencias bibliográficas existentes hasta el presente, las cuales fueron cotejadas con cálculos propios llevados a cabo mediante el procedimiento de depresión del contínuo (0.001 a 0.5 eV). Nuestros resultados muestran un muy buen acuerdo con las expresiones interpolatorias de Traving et al (1966), al presente, la referencia más completa en cuanto a especies atómicas consideradas. Puntualizamos, además, ciertas deficiencias de estas relaciones de ajuste para decrementos del potencial de ionización altos (Δ χ >= 0.5) eV).

  4. Digitalización de diapositivas del Sol en H α

    NASA Astrophysics Data System (ADS)

    Missio, H.; Montenegro, C.; Montenegro, R.

    El objetivo de este trabajo ha sido el de obtener imágenes digitalizadas de las diapositivas tomadas del Sol en luz de hidrógeno de la línea correspondiente a Hα, y de esta manera llegar a convertir las mismas a un archivo digital para poder ser tratadas luego por computadora y poder contabilizar con exactitud, mediante un programa adecuado para tal fin, las zonas activas del Sol en la imagen digitalizada. En principio, para llegar a esto se pensó en la utilización de medios accesibles, y como detector se utilizó un fototransistor ubicado dentro de un soporte rectangular sobre dos ejes de desplazamiento X e Y. Se han obtenido con este procedimiento imágenes de buena calidad, construídas a partir de tres datos digitalizados en cada barrido que aportan la posición X e Y y la intensidad del pixel en ese punto indicada en 255 tonos de grises.

  5. Molecular defects leading to human complement component C6 deficiency in an African-American family

    PubMed Central

    Zhu, Z-B; Totemchokchyakarn, K; Atkinson, T P; Volanakis, J E

    1998-01-01

    Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father. PMID:9472666

  6. The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

    PubMed

    Ruijs, Marielle W G; Broeks, Annegien; Menko, Fred H; Ausems, Margreet G E M; Wagner, Anja; Oldenburg, Rogier; Meijers-Heijboer, Hanne; van't Veer, Laura J; Verhoef, Senno

    2009-02-17

    CHEK2 has previously been excluded as a major cause of Li-Fraumeni syndrome (LFS). One particular CHEK2 germline mutation, c.1100delC, has been shown to be associated with elevated breast cancer risk. The prevalence of CHEK2*1100delC differs between populations and has been found to be relatively high in the Netherlands. The question remains nevertheless whether CHEK2 germline mutations contribute to the Li-Fraumeni phenotype. We have screened 65 Dutch TP53-negative LFS/LFL candidate patients for CHEK2 germline mutations to determine their contribution to the LFS/LFL phenotype. We identified six index patients with a CHEK2 sequence variant, four with the c.1100delC variant and two sequence variants of unknown significance, p.Phe328Ser and c.1096-?_1629+?del. Our data show that CHEK2 is not a major LFS susceptibility gene in the Dutch population. However, CHEK2 might be a factor contributing to individual tumour development in TP53-negative cancer-prone families.

  7. Analisis experimental de la propagacion en redes de area corporal para la banda de ultra wideband. experimental characterization of the propagation in ultra wideband body area networks

    NASA Astrophysics Data System (ADS)

    Garcia Serna, Ruben Gregorio

    Diferentes dispositivos capaces de obtener informacion sobre parametros fisiologicos, cinematicos o contextuales del cuerpo pueden interconectarse de manera inalambrica dando lugar a las denominadas Redes de Area Corporal Inalambricas (WBAN, Wireless Body Area Networks). De entre las posibles tecnologias para establecer los enlaces, Ultra Wideband (UWB) esta captando cada vez un mayor interes debido a caracteristicas tales como el bajo nivel de potencia de transmision requerido (bajo nivel de exposicion a campos electromagneticos), el alto ancho de banda disponible y la alta resolucion temporal/espacial. El diseno de sistemas centrados en el cuerpo requiere de modelos de canal que describan de manera precisa la propagacion de senales en este tipo de entornos. Esta tesis se plantea con el objetivo de contribuir al estudio experimental de la propagacion en sistemas centrados en el cuerpo operando en la banda UWB. En primer lugar, se presenta un marco introductorio a las redes WBAN, sus elementos constitutivos, bandas de frecuencia, estandarizacion y modelos de canal. Ademas, se introducen los fundamentos de la tecnologia UWB y sus aplicaciones en este area. Seguidamente, se analiza en terminos de las perdidas de propagacion y la dispersion de retardo la propagacion en el canal off-body entre un transmisor fijo y un dispositivo receptor colocado sobre la superficie del cuerpo de un sujeto. Se considera la influencia de diferentes aspectos, tales como el entorno de medidas, la posicion de colocacion de una antena sobre el cuerpo y la postura adoptada por un sujeto. Finalmente, se analiza el canal de propagacion in-body considerando el movimiento relativo entre dos dispositivos causado por efecto de la respiracion. Las condiciones de propagacion en el interior del cuerpo se emulan por medio de un phantom liquido para UWB y la caracterizacion se plantea tanto en frecuencia, en terminos del modelado de la forma y el ensanchamiento del espectro Doppler, como en tiempo, por medio del estudio de la funcion de autocorrelacion y el tiempo de coherencia del canal.

  8. Desarrollo de un instrumento para medir percepciones sobre el contexto de construccion del conocimiento cientifico de estudiantes universitarios de nuevo ingreso

    NASA Astrophysics Data System (ADS)

    Garcia-Ramirez, Jaime Antonio

    En esta investigacion, se desarrollo un instrumento que permite medir percepciones relacionadas al contexto de constriccion del conocimiento cientifico. Se examinaron instrumentos existentes y se encontro que el VOSTS (Views on science, technology, and society), instrumento desarrollado empiricamente en Canada por Aikenhead, Ryan y Fleming, podia traducirse y validarse en el contexto cultural puertorriqueno. El instrumento es extenso, consta de 113 reactivos, cada uno con una premisa basica relacionada a la tematica ciencia, tecnologia y sociedad y un numero de alternativas relacionadas a la premisa que oscila entre siete y trece. Se delimito su utilizacion a los quince reactivos identificados por los autores como relacionados a la construccion social del conocimiento cientifico. Metodologicamente, se procedio a utilizar el modelo de adaptacion intercultural, que permite que el instrumento desarrollado satisfaga las dimensiones de equivalencia semantica, de contenido, tecnica, de criterio y conceptual, atemperado asi al instrumento original. Se cumplio con este proposito mediante la traduccion de la version original en ingles al espanol y viceversa. Se utilizaron comites para examinar la traduccion y la retro-traduccion del instrumento. Se realizo una prueba piloto con estudiantes universitarios de nuevo ingreso, utilizando el instrumento traducido para asegurar su intelegibilidad. La confiabilidad del instrumento se determino mediante la intervencion de un panel de expertos quienes clasificaron las distintas posiciones dentro de cada reactivo en: realista, con merito e ingenua; se transformaron estas opciones en valores numericos lo que permitio establecer una escala Likert para cada una. Se suministro el instrumento a una muestra de estudiantes universitarios de nuevo ingreso con caracteristicas similares a las de la poblacion puertorriquena en cuanto a ejecucion en las pruebas de aptitud verbal y matematica del College Board. Los resultados de sus contestaciones fueron transformados numericamente para poder obtener el coeficiente de correlacion de Spearman-Brown para el instrumento (0.661, p < 0.01). El analisis de las contestaciones de los estudiantes refleja percepciones diversas y, en algunos casos, contradictorias con respecto al contexto de construccion del conocimiento cientifico.

  9. Dual Inhibition of PI3K/Akt and mTOR by the Dietary Antioxidant, Delphinidin, Ameliorates Psoriatic Features In Vitro and in an Imiquimod-Induced Psoriasis-Like Disease in Mice

    PubMed Central

    Adhami, Vaqar M.; Esnault, Stephane; Sechi, Mario; Siddiqui, Imtiaz A.; Satyshur, Kenneth A.; Syed, Deeba N.; Dodwad, Shah-Jahan M.; Chaves-Rodriquez, Maria-Ines; Longley, B. Jack; Wood, Gary S.

    2017-01-01

    Abstract Aim: The treatment of psoriasis remains elusive, underscoring the need for identifying novel disease targets and mechanism-based therapeutic approaches. We recently reported that the PI3K/Akt/mTOR pathway that is frequently deregulated in many malignancies is also clinically relevant for psoriasis. We also provided rationale for developing delphinidin (Del), a dietary antioxidant for the management of psoriasis. This study utilized high-throughput biophysical and biochemical approaches and in vitro and in vivo models to identify molecular targets regulated by Del in psoriasis. Results: A kinome-level screen and Kds analyses against a panel of 102 human kinase targets showed that Del binds to three lipid (PIK3CG, PIK3C2B, and PIK3CA) and six serine/threonine (PIM1, PIM3, mTOR, S6K1, PLK2, and AURKB) kinases, five of which belong to the PI3K/Akt/mTOR pathway. Surface plasmon resonance and in silico molecular modeling corroborated Del's direct interactions with three PI3Ks (α/c2β/γ), mTOR, and p70S6K. Del treatment of interleukin-22 or TPA-stimulated normal human epidermal keratinocytes (NHEKs) significantly inhibited proliferation, activation of PI3K/Akt/mTOR components, and secretion of proinflammatory cytokines and chemokines. To establish the in vivo relevance of these findings, an imiquimod (IMQ)-induced Balb/c mouse psoriasis-like skin model was employed. Topical treatment of Del significantly decreased (i) hyperproliferation and epidermal thickness, (ii) skin infiltration by immune cells, (iii) psoriasis-related cytokines/chemokines, (iv) PI3K/Akt/mTOR pathway activation, and (v) increased differentiation when compared with controls. Innovation and Conclusion: Our observation that Del inhibits key kinases involved in psoriasis pathogenesis and alleviates IMQ-induced murine psoriasis-like disease suggests a novel PI3K/AKT/mTOR pathway modulator that could be developed to treat psoriasis. Antioxid. Redox Signal. 26, 49–69. PMID:27393705

  10. High genetic structure and low mitochondrial diversity in bottlenose dolphins of the Archipelago of Bocas del Toro, Panama: A population at risk?

    PubMed Central

    Tezanos-Pinto, Gabriela; Islas-Villanueva, Valentina; Correa-Cárdenas, Camilo A.

    2017-01-01

    The current conservation status of the bottlenose dolphin (Tursiops truncatus) under the IUCN is ‘least concern’. However, in the Caribbean, small and localized populations of the ‘inshore form’ may be at higher risk of extinction than the ‘worldwide distributed form’ due to a combination of factors including small population size, high site fidelity, genetic isolation, and range overlap with human activities. Here, we study the population genetic structure of bottlenose dolphins from the Archipelago of Bocas del Toro in Panama. This is a small population characterized by high site fidelity and is currently heavily-impacted by the local dolphin-watching industry. We collected skin tissue samples from 25 dolphins to study the genetic diversity and structure of this population. We amplified a portion of the mitochondrial Control Region (mtDNA-CR) and nine microsatellite loci. The mtDNA-CR analyses revealed that dolphins in Bocas del Toro belong to the ‘inshore form’, grouped with the Bahamas-Colombia-Cuba-Mexico population unit. They also possess a unique haplotype new for the Caribbean. The microsatellite data indicated that the Bocas del Toro dolphin population is highly structured, likely due to restricted movement patterns. Previous abundance estimates obtained with mark-recapture methods reported a small population of 80 dolphins (95% CI = 72–87), which is similar to the contemporary effective population size estimated in this study (Ne = 73 individuals; CI = 18.0 - ∞; 0.05). The combination of small population size, high degree of genetic isolation, and intense daily interactions with dolphin-watching boats puts the Bocas del Toro dolphin to at high risk of extinction. Despite national guidelines to regulate the dolphin-watching industry in Bocas del Toro and ongoing educational programs for tour operators, only in 2012 seven animals have died due to boat collisions. Our results suggest that the conservation status of bottlenose dolphins in Bocas del Toro should be elevated to ‘endangered’ at the national level, as a precautionary measure while population and viability estimates are conducted. PMID:29236757

  11. Impact of the F508del mutation on ovine CFTR, a Cl− channel with enhanced conductance and ATP-dependent gating

    PubMed Central

    Cai, Zhiwei; Palmai-Pallag, Timea; Khuituan, Pissared; Mutolo, Michael J; Boinot, Clément; Liu, Beihui; Scott-Ward, Toby S; Callebaut, Isabelle; Harris, Ann; Sheppard, David N

    2015-01-01

    Cross-species comparative studies are a powerful approach to understanding the epithelial Cl− channel cystic fibrosis transmembrane conductance regulator (CFTR), which is defective in the genetic disease cystic fibrosis (CF). Here, we investigate the single-channel behaviour of ovine CFTR and the impact of the most common CF mutation, F508del-CFTR, using excised inside-out membrane patches from transiently transfected CHO cells. Like human CFTR, ovine CFTR formed a weakly inwardly rectifying Cl− channel regulated by PKA-dependent phosphorylation, inhibited by the open-channel blocker glibenclamide. However, for three reasons, ovine CFTR was noticeably more active than human CFTR. First, single-channel conductance was increased. Second, open probability was augmented because the frequency and duration of channel openings were increased. Third, with enhanced affinity and efficacy, ATP more strongly stimulated ovine CFTR channel gating. Consistent with these data, the CFTR modulator phloxine B failed to potentiate ovine CFTR Cl− currents. Similar to its impact on human CFTR, the F508del mutation caused a temperature-sensitive folding defect, which disrupted ovine CFTR protein processing and reduced membrane stability. However, the F508del mutation had reduced impact on ovine CFTR channel gating in contrast to its marked effects on human CFTR. We conclude that ovine CFTR forms a regulated Cl− channel with enhanced conductance and ATP-dependent channel gating. This phylogenetic analysis of CFTR structure and function demonstrates that subtle changes in structure have pronounced effects on channel function and the consequences of the CF mutation F508del. Key points Malfunction of the cystic fibrosis transmembrane conductance regulator (CFTR), a gated pathway for chloride movement, causes the common life-shortening genetic disease cystic fibrosis (CF). Towards the development of a sheep model of CF, we have investigated the function of sheep CFTR. We found that sheep CFTR was noticeably more active than human CFTR, while the most common CF mutation, F508del, had reduced impact on sheep CFTR function. Our results demonstrate that subtle changes in protein structure have marked effects on CFTR function and the consequences of the CF mutation F508del. PMID:25763566

  12. Postinfectious bronchiolitis obliterans

    PubMed

    2018-06-01

    La bronquiolitis obliterante es una enfermedad pulmonar crónica infrecuente y grave producto de una lesión del tracto respiratorio inferior. En nuestro país, es más frecuente observarla secundaria a una lesión viral grave, en especial, por adenovirus. La bronquiolitis obliterante se caracteriza por la oclusión parcial o total del lumen de los bronquiolos respiratorios y terminales por tejido inflamatorio y fibrosis, que produce la obstrucción crónica de la vía aérea. Este consenso discute el estado actual del conocimiento en las diferentes áreas de la bronquiolitis obliterante secundaria a una lesión infecciosa.

  13. Aplicación del Teorema de Nekhorochev para tiempos de estabilidad en Mecánica Celeste

    NASA Astrophysics Data System (ADS)

    Miloni, O.; Núñez, J.; Brunini, A.

    En Mecánica Celeste, uno de los problemas centrales consiste en la determinación de los tiempos de estabilidad. El teorema de Nekhorochev proporciona un método para dicho estudio, para un sistema determinado por un hamiltoniano descripto en las variables acción-ángulo. El trabajo consiste en la acotación tanto del potencial perturbador y de la matriz hessiana del hamiltoniano integrable para determinar luego el tiempo de estabilidad de dicho sistema, donde por estabilidad se entiende la separación en norma infinito en el espacio de las acciones.

  14. The Impact of Drug Trafficking on the Socio Cultural Milieu of the Indigenous Population of Darien in the Republic of Panama

    DTIC Science & Technology

    2017-05-23

    restricciones en su país de origen, en cuyo caso, la publicación posterior o venta de este manuscrito con derecho de autor no es permisible. ii REPORT ...condiciones del resto de las comarcas indígenas del país. Esto sería a su vez de gran beneficio para el país, porque se colocaría en un nuevo... de desarrollo a beneficio de estas etnias. La falta de interés hacia las poblaciones indígenas se ve reflejada en el mayor índice de pobreza del

  15. Archaeological Sites Inventory of the Training Area 10 and 12 Portions of the Pinon Canyon Maneuver Site, Las Animas County, Colorado. Volume 2

    DTIC Science & Technology

    2004-01-01

    the Hartville Uplift source) and obsidian. The source location for this obsidian is the Jemez Mountains of New Mexico (Cerro del Medio dome, Appendix...Mountain (Polvadera Peak, Obsidian Ridge, and Cerro del Medio sources in New Mexico ), Malad (Idaho) and Yellowstone (Wyoming) obsidian, Plate...5LA8308, 61 14 160 8 39 157 48 nm nm nm nm nm Cerro del Medio . FS # 15 ±7 ±4 ±5 ±3 ±4 ±4 ±3 New Mexico 5LA8309, 73 21 151 8 41 150 49 nm nm nm nm nm Cerro

  16. Thermal Smearing of the Magneto-Kohn Anomaly for Dirac materials and comparison with the Two-dimensional electron Liquid

    NASA Astrophysics Data System (ADS)

    Dahal, Dipendra; Balassis, Antonios; Gumbs, Godfrey; Glasser, M. L.; graphene projects Collaboration

    We compute and compare the effects due to a uniform perpendicular magnetic field and the temperature on the static polarization functions for monolayer graphene (MLG) associated with the Dirac point with that for the two-dimensional electron liquid (2DEL). Previous results for the 2DEL are discussed and we point out a flaw in reported analytic derivation to exhibit the smearing of the Fermi surface for 2DEL. The relevance of our study to the Kohn anomaly in low-dimensional structures and the Friedel oscillations for the screening of the potential for a dilute distribution of impurities is reported.

  17. Crime Scene Intelligence. An Experiment in Forensic Entomology

    DTIC Science & Technology

    2006-11-01

    Investigation (Boca Raton, FL: CRC Press, 1993), 72. 23 Smith, 86. 24 G. Bianchini, “La Biologia Del Cadaver, ” Archivic Antropologia...May R. Ninety-Nine More Maggots, Mites, and Munchers. Urbana and Chi- cago: University of Illinois Press, 1985. Bianchini, G. “La Biologia Del

  18. Solving Kinetic Equations on GPU’s

    DTIC Science & Technology

    2011-01-01

    7 Acknowledgments 23 8 Appendix: CUDA pseudo-codes 27 ∗Dipartimento di Matematica del Politecnico di Milano Piazza Leonardo da Vinci 32, 20133 Milano...PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) Dipartimento di Matematica del Politecnico di Milano Piazza Leonardo da Vinci 32, 20133 Milano, Italy 8

  19. Reproductive biology of the Del Norte salamander (Plethodon elongatus).

    Treesearch

    Clara A. Wheeler; Hartwell H. Welsh Jr.; Lisa M. Ollivier

    2013-01-01

    We examined seasonal reproductive patterns of the Del Norte Salamander, Plethodon elongatus, in mixed conifer and hardwood forests of northwestern California and southwestern Oregon. Seasonal size differences in reproductive structures suggested that maximum spermatogenic activity occurred during the late summer, with spermatozoa transfer to the...

  20. Metodo de Archivar las Observaciones del Comportamiento del Nino, Como Guia para Entenderlo Mejor (Methods of Recording Observations of Children's Behavior, A Guide for Better Understanding)

    ERIC Educational Resources Information Center

    Stamp, Isla M.

    1971-01-01

    Copies of the Behaviour Study Technique described in this article may be obtained in English from the Australian Council for Educational Research, Frederick St., Hawthorn, Victoria, Australia 3122. (RY)

  1. Physiological profile of fighters influences training organisation in combat sports: response to Del Vecchio, Hirata, and Franchini (2011).

    PubMed

    Paillard, Thierry

    2011-12-01

    The article by Del Vecchio, et al. (2011) provides relevant information to trainers about the effort-pause ratio during mixed martial arts matches. Taking into account the physiological profiles of fighters would increase interest in these findings.

  2. 77 FR 36041 - Additional Designations, Foreign Narcotics Kingpin Designation Act

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-15

    ... identified by the President. In addition, the Secretary of the Treasury, in consultation with the Attorney.... 222, Colonia Ciudad del Sol, Zapopan, Jalisco 45050, Mexico; Calle Quebec 606 B, Prados Providencia, Guadalajara, Jalisco, Mexico; Calle Mango 2129, Colonia Paraisos del Colli, Guadalajara, Jalisco, Mexico...

  3. 76 FR 58562 - Additional Designations, Foreign Narcotics Kingpin Designation Act

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-21

    ... controlled by significant foreign narcotics traffickers as identified by the President. In addition, the..., Jalisco, Mexico; Plaza Del Sol Local 28, Zona R, Guadalajara, Jalisco, Mexico; Paseo Del Heliotropo 3426, Monraz, Guadalajara, Jalisco, Mexico; DOB 09 Aug 1955; POB Jalisco, Mexico; Citizen Mexico; Nationality...

  4. 77 FR 14594 - Additions to the Identifying Information for an Individual Previously Designated Pursuant to the...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-12

    ..., Colombia; c/o INVERPUNTO DEL VALLE S.A., Cali, Colombia; c/o INVERSIONES CIFUENTES Y CIA. S. EN C...., Bogota, Colombia; c/o INVERPUNTO DEL VALLE S.A., Cali, Colombia; c/o INVERSIONES CIFUENTES Y CIA. S. EN C...

  5. Physical Properties of the SKYLAB North Polar Coronal Hole with an Extended Base and its MHD Self-Consistent Modelling

    NASA Astrophysics Data System (ADS)

    Bravo, S.; Ocania, G.

    1991-04-01

    RESUMEN Con base en las observaciones del Skylab del Sol en rayos X que permitieron r la forma de la frontera del hoyo coronal del polo norte y en las observaciones de l 'z que permitieron derivar un perfil de densidad para el flujo de viento solar (IC ese hoyo, Murno yjackson (1977) concluyeron que se requiere una adici6n t l clc energfa al flujo hasta al menos 5 R8. En este trabajo, recalculamos los perfiles de y de temperatura para el mismo hoyo pero considerando una frontera Cs mas ancha en la base, de acuerdo con las observaciones del coron6metro-K del IIAO, los espectroheliogramas en EUV del OSO-7 y las fotografias de la corona solar cerca de los 4 E)()O A. Se tomaron tambien las incertidumbres en el perfil de densidad electr6nica inl & a las observaciones de luz blanca y se consideraron diversos valores posibles dCl fl 'jo (lC masa 1 UA. Encontramos que las diferencias introducidas no son suficientes par clcsc' la necesidad de una energetizaci6n extensa del viento solar, pero una dC las s posibles muestra una concordancia muy buena con el modelado MHD (l( l flujo con el unico t6rmino adicional de la fuerza de Lorentz en la ecuaci6n de # (). ABSTRACT Based on the near to the Sun boundary of the Skylab north polar coroi ' l estimated from the AS & E X-ray photographs and on the density profile fi-C)I white light data, Munro and Jackson (1977) concluded that substantial energy the solar wind flux is required up to at least 5 Rs. In this paper we recalculate `eloci y and temperature profiles for the same hole but considering a different bo ' ry for flux tube which is larger at its base, according to the HAO K- obser"' (i()I0 , the OSO-7 EUV spectroheliograms and pictures of the solar 4500 A. è take into account the uncertainties inherent in the white light observations () electron density profile and consider different possible values of the solar I .' fltix at 1 AU. We that the differences introduced are not sufficient to discard ii y of an extended energetization of the wind, one of the possibilities allowed for fltix the observational uncertailities shows a very good agreement wi4 an NI Ill) seli'consistent modelling with the only additional term of the Lorentz force in the iiii equation. Key words: SUN-CORONA

  6. Characterization of nasal potential difference in cftr knockout and F508del-CFTR mice.

    PubMed

    Saussereau, Emilie Lyne; Roussel, Delphine; Diallo, Siradiou; Debarbieux, Laurent; Edelman, Aleksander; Sermet-Gaudelus, Isabelle

    2013-01-01

    Treatments designed to correct cystic fibrosis transmembrane conductance regulator (CFTR) defects must first be evaluated in preclinical experiments in the mouse model of cystic fibrosis (CF). Mice nasal mucosa mimics the bioelectric defect seen in humans. The use of nasal potential difference (V(TE)) to assess ionic transport is a powerful test evaluating the restoration of CFTR function. Nasal V(TE) in CF mice must be well characterized for correct interpretation. We performed V(TE) measurements in large-scale studies of two mouse models of CF--B6;129 cftr knockout and FVB F508del-CFTR--and their respective wild-type (WT) littermates. We assessed the repeatability of the test for cftr knockout mice and defined cutoff points distinguishing between WT and F508del-CFTR mice. We determined the typical V(TE) values for CF and WT mice and demonstrated the existence of residual CFTR activity in F508del-CFTR mice. We characterized intra-animal variability in B6;129 mice and defined the cutoff points for F508del-CFTR chloride secretion rescue. Hyperpolarization of more than -2.15 mV after perfusion with a low-concentration Cl(-) solution was considered to indicate a normal response. These data will make it possible to interpret changes in nasal V(TE) in mouse models of CF, in future preclinical studies.

  7. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Schürpf, Thomas; Chen, Qiang; Liu, Jin-huan

    Developmental endothelial cell locus-1 (Del-1) glycoprotein is secreted by endothelial cells and a subset of macrophages. Del-1 plays a regulatory role in vascular remodeling and functions in innate immunity through interaction with integrin {alpha}{sub V}{beta}{sub 3}. Del-1 contains 3 epidermal growth factor (EGF)-like repeats and 2 discoidin-like domains. An Arg-Gly-Asp (RGD) motif in the second EGF domain (EGF2) mediates adhesion by endothelial cells and phagocytes. We report the crystal structure of its 3 EGF domains. The RGD motif of EGF2 forms a type II' {beta} turn at the tip of a long protruding loop, dubbed the RGD finger. Whereas EGF2more » and EGF3 constitute a rigid rod via an interdomain calcium ion binding site, the long linker between EGF1 and EGF2 lends considerable flexibility to EGF1. Two unique O-linked glycans and 1 N-linked glycan locate to the opposite side of EGF2 from the RGD motif. These structural features favor integrin binding of the RGD finger. Mutagenesis data confirm the importance of having the RGD motif at the tip of the RGD finger. A database search for EGF domain sequences shows that this RGD finger is likely an evolutionary insertion and unique to the EGF domain of Del-1 and its homologue milk fat globule-EGF 8. The RGD finger of Del-1 is a unique structural feature critical for integrin binding.« less

  8. The VAST Survey - IV. A wide brown dwarf companion to the A3V star ζ Delphini

    NASA Astrophysics Data System (ADS)

    De Rosa, R. J.; Patience, J.; Ward-Duong, K.; Vigan, A.; Marois, C.; Song, I.; Macintosh, B.; Graham, J. R.; Doyon, R.; Bessell, M. S.; Lai, O.; McCarthy, D. W.; Kulesa, C.

    2014-12-01

    We report the discovery of a wide comoving substellar companion to the nearby (D = 67.5 ± 1.1 pc) A3V star ζ Delphini based on imaging and follow-up spectroscopic observations obtained during the course of our Volume-limited A-Star (VAST) multiplicity survey. ζ Del was observed over a five-year baseline with adaptive optics, revealing the presence of a previously unresolved companion with a proper motion consistent with that of the A-type primary. The age of the ζ Del system was estimated as 525 ± 125 Myr based on the position of the primary on the colour-magnitude and temperature-luminosity diagrams. Using intermediate-resolution near-infrared spectroscopy, the spectrum of ζ Del B is shown to be consistent with a mid-L dwarf (L5 ± 2), at a temperature of 1650 ± 200 K. Combining the measured near-infrared magnitude of ζ Del B with the estimated temperature leads to a model-dependent mass estimate of 50 ± 15 MJup, corresponding to a mass ratio of q = 0.019 ± 0.006. At a projected separation of 910 ± 14 au, ζ Del B is among the most widely separated and extreme-mass ratio substellar companions to a main-sequence star resolved to date, providing a rare empirical constraint of the formation of low-mass ratio companions at extremely wide separations.

  9. Forensic efficiency and genetic variation of 30 InDels in Vietnamese and Nigerian populations.

    PubMed

    Du, Weian; Peng, Zhiyong; Feng, Chunlei; Zhu, Bofeng; Wang, Bangchao; Wang, Yue; Liu, Chao; Chen, Ling

    2017-10-24

    Insertion/deletion polymorphisms (InDels) are ubiquitous diallelic genetic markers that have drawn increasing attention from forensic researchers. Here, we investigated 30 InDel loci in Vietnamese and Nigerian populations and evaluated their usefulness in forensic genetics. The polymorphic information content of these populations ranged, respectively, from 0.164 to 0.375 and from 0.090 to 0.375 across loci. After Bonferroni correction, no significant deviation from Hardy-Weinberg equilibrium was found, except for HLD97 in the Nigerian population. The cumulative power of exclusion for all 30 loci in the Vietnamese and Nigerian populations was 0.9870 and 0.9676, respectively, indicating that this InDel set is not suitable for paternity testing in these populations, but could be included as a supplement. For the Vietnamese and the Nigerian populations, the mean observed heterozygosity was 0.5917 and 0.6268, and the combined discrimination power of the 30 loci was 0.9999999999767 and 0.9999999999603, respectively. These findings indicated that these InDels may be suitable for personal forensic identification in the studied populations. The results of D A distance, phylogenetic tree, principal component, and cluster analyses were consistent and indicated a clear pattern of regional distribution. Moreover, the Vietnamese population was shown to have close genetic relationships with the Guangdong Han and Shanghai Han populations.

  10. Forensic efficiency and genetic variation of 30 InDels in Vietnamese and Nigerian populations

    PubMed Central

    Du, Weian; Peng, Zhiyong; Feng, Chunlei; Zhu, Bofeng; Wang, Bangchao; Wang, Yue; Liu, Chao; Chen, Ling

    2017-01-01

    Insertion/deletion polymorphisms (InDels) are ubiquitous diallelic genetic markers that have drawn increasing attention from forensic researchers. Here, we investigated 30 InDel loci in Vietnamese and Nigerian populations and evaluated their usefulness in forensic genetics. The polymorphic information content of these populations ranged, respectively, from 0.164 to 0.375 and from 0.090 to 0.375 across loci. After Bonferroni correction, no significant deviation from Hardy-Weinberg equilibrium was found, except for HLD97 in the Nigerian population. The cumulative power of exclusion for all 30 loci in the Vietnamese and Nigerian populations was 0.9870 and 0.9676, respectively, indicating that this InDel set is not suitable for paternity testing in these populations, but could be included as a supplement. For the Vietnamese and the Nigerian populations, the mean observed heterozygosity was 0.5917 and 0.6268, and the combined discrimination power of the 30 loci was 0.9999999999767 and 0.9999999999603, respectively. These findings indicated that these InDels may be suitable for personal forensic identification in the studied populations. The results of DA distance, phylogenetic tree, principal component, and cluster analyses were consistent and indicated a clear pattern of regional distribution. Moreover, the Vietnamese population was shown to have close genetic relationships with the Guangdong Han and Shanghai Han populations. PMID:29179488

  11. Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the NC1 domain of type X collagen

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    McIntosh, I.; Abbott, M.H.; Francomano, C.A.

    1994-09-01

    Schmid metaphyseal chondrodysplasia (SMCD, MIM 156500) is an autosomal dominant disorder of the osseous skeleton resulting in short stature, coxa vara and a waddling gait. Type X collagen is an extracellular matrix protein expressed exclusively by hypertrophic chondrocytes. We have previously identified four mutations in the type X collagen gene (COL10A1) in patients with SMCD. Each of these mutations, as well as another three reported by other investigators, are in the carboxy-terminal non-collagenous domain (NC1). Here, we present data for another three mutations each predicted to cause premature termination of translation within the NC1 domain. Two are nonsense mutations, Y628Xmore » and W651X, while the third is a frameshift resulting from the deletion of two nucleotides, 1856delCC. Each of these mutations occurred de novo, resulting in sporadic cases of SMCD. Four frameshift mutations have now been reported to initiate within 10bp of each other in the NC1 domain, namely 1865delC, 1856delCC, 1856del13 and 1866del10. These findings further support the hypothesis that SMCD is the result of the mutant type X collagen molecule being unable to participate in trimerization, although a dominant-negative model of disease pathogenesis has not been formally excluded.« less

  12. The Cuernos del Paine mountains in Torres del Paine National Park, Chile, during NASA's AirSAR 2004 campaign

    NASA Image and Video Library

    2004-03-11

    The Cuernos del Paine mountains in Torres del Paine National Park, Chile, during NASA's AirSAR 2004 campaign. AirSAR 2004 is a three-week expedition in Central and South America by an international team of scientists that is using an all-weather imaging tool, called the Airborne Synthetic Aperture Radar (AirSAR), located onboard NASA's DC-8 airborne laboratory. Scientists from many parts of the world are combining ground research with NASA's AirSAR technology to improve and expand on the quality of research they are able to conduct. Founded in 1959, Torres del Paine National Park encompasses 450,000 acres in the Patagonia region of Chile. This region is being studied by NASA using a DC-8 equipped with an Airborne Synthetic Aperture Radar (AirSAR) developed by scientists from NASA’s Jet Propulsion Laboratory. This is a very sensitive region that is important to scientists because the temperature has been consistently rising causing a subsequent melting of the region’s glaciers. AirSAR will provide a baseline model and unprecedented mapping of the region. This data will make it possible to determine whether the warming trend is slowing, continuing or accelerating. AirSAR will also provide reliable information on ice shelf thickness to measure the contribution of the glaciers to sea level.

  13. The Cuernos del Paine mountains in Torres del Paine National Park in Chile, photographed during NASA's AirSAR 2004 campaign

    NASA Image and Video Library

    2004-03-11

    The Cuernos del Paine mountains in Torres del Paine National Park in Chile, photographed during NASA's AirSAR 2004 campaign. AirSAR 2004 is a three-week expedition in Central and South America by an international team of scientists that is using an all-weather imaging tool, called the Airborne Synthetic Aperture Radar (AirSAR), located onboard NASA's DC-8 airborne laboratory. Scientists from many parts of the world are combining ground research with NASA's AirSAR technology to improve and expand on the quality of research they are able to conduct. Founded in 1959, Torres del Paine National Park encompasses 450,000 acres in the Patagonia region of Chile. This region is being studied by NASA using a DC-8 equipped with an Airborne Synthetic Aperture Radar (AirSAR) developed by scientists from NASA’s Jet Propulsion Laboratory. This is a very sensitive region that is important to scientists because the temperature has been consistently rising causing a subsequent melting of the region’s glaciers. AirSAR will provide a baseline model and unprecedented mapping of the region. This data will make it possible to determine whether the warming trend is slowing, continuing or accelerating. AirSAR will also provide reliable information on ice shelf thickness to measure the contribution of the glaciers to sea level.

  14. DOE Office of Scientific and Technical Information (OSTI.GOV)

    Asai, Hirohide; Hirano, Makito; Kiriyama, Takao

    Intranuclear events due to mutations in the Parkin gene remain elusive in autosomal recessive juvenile parkinsonism (ARJP). We identified a mutant PARKIN protein in fibroblast cultures from a pair of siblings with ARJP who were homozygous for the exon 4-deleted Parkin gene. Disease was mild in one patient and debilitating in the other. The detected mutant, encoded by a transcript lacking exon 3 as well as exon 4, is an in-frame deletion that removes 121 aa, resulting in a 344-aa protein (PaDel3,4). Cell culture and transfection studies revealed negative correlations between expression levels of PaDel3,4 and those of cell cyclemore » proteins, including cyclin E, CDK2, ppRb, and E2F-1, and demonstrated that GFP-PaDel3,4 entered nucleus and ubiquitinated cyclin E as a part of SCF{sup hSel-10} ligase complex in the patient cells. In addition, nuclear localization signal-tagged PaDel3,4 expressed in the transfected patient cells most effectively ubiquitinated cyclin E and reduced DNA damage, protecting cells from oxidative stress. Antisense-oligonucleotide treatment promoted skipping of exon 3 and thus generated PaDel3,4, increasing cell survival. Collectively, we propose that naturally- and experimentally-induced exon skipping at least partly restores the mutant Parkin gene deficit, providing a molecular basis for the development of therapeutic exon skipping.« less

  15. El proyecto AUGER

    NASA Astrophysics Data System (ADS)

    Etchegoyen, A.

    Hace ya más de 30 años en Volcano Ranch, EE.UU., un extenso chubasco cósmico (ECC) fue detectado con energía en exceso de 1020 eV. Desde entonces, observatorios ubicados en Haverah Park del Reino Unido, Yakutsk de Rusia, AGASA de Japón y Dugway de EE.UU. también han observado ECC con energías mayores que 1020 eV. Poco se sabe de dichos rayos, y en particular cuál es la naturaleza del primario, de dónde provienen, y cómo son acelerados, pero su naturaleza ultrarelativista excluye la mayoría de las respuestas dejando sólo algunas plausibles de ser investigadas experimentalmente. Grupos de científicos de 20 países están trabajando con el fin de construir dos arreglos de detectores gigantes, uno en cada hemisferio a lo largo de 3000 km2 c/u. Dichas dimensiones son necesarias debido al flujo estimado de 1 rayo cósmico/centuria/km2/sr. La sede del Observatorio del Sur es la Argentina. El proyecto fue nombrado Pierre Auger en conmemoración del célebre físico francés que detectó por primera vez chubascos cósmicos en 1938. El proyecto focaliza su interés en rayos cósmicos con energías mayores que 1020 eV.

  16. Association between a promoter dopamine D2 receptor gene variant and the personality trait detachment.

    PubMed

    Jönsson, Erik G; Cichon, Sven; Gustavsson, J Petter; Grünhage, Frank; Forslund, Kaj; Mattila-Evenden, Marja; Rylander, Gunnar; Asberg, Marie; Farde, Lars; Propping, Peter; Nöthen, Markus M

    2003-04-01

    Personality traits have shown considerable heritable components. Striatal dopamine D(2) receptor density, as determined by positron-emission tomography, has been associated with detached personality, as assessed by the Karolinska Scales of Personality. A putative functional promoter polymorphism in the dopamine D(2) receptor gene (DRD2), -141C ins/del, has been associated with dopamine D(2) receptor density. In this study healthy subjects (n = 235) who filled in at least one of several personality questionnaires (Karolinska Scales of Personality, Swedish Universities Scales of Personality, Health-relevant Five-factor Personality Inventory, and Temperament and Character Inventory) were analyzed with regard to the DRD2 -141C ins/del variant. There was an association (p =.001) between the DRD2 -141C ins/del variant and Karolinska Scales of Personality Detachment scale, indicating higher scores in subjects with the -141C del variant. There were also associations between the DRD2 -141C ins/del variant and a number of Karolinska Scales of Personality and Swedish Universities Scales of Personality Neuroticism-related scales, but of these only Swedish Universities Scales of Personality Lack of Assertiveness scale (p =.001) survived correction for multiple testing. These results add further support for the involvement of dopamine D(2) receptor in certain personality traits. The results should be treated with caution until replicated.

  17. Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients.

    PubMed

    Lenarduzzi, S; Morgutti, M; Crovella, S; Coiana, A; Rosatelli, M C

    2014-11-14

    Cystic fibrosis (CF) is a common recessive genetic disease caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. More than 1800 different mutations have been described to date. Here, we report 3 novel mutations in CFTR in 3 Italian CF patients. To detect and identify 36 frequent mutations in Caucasians, we used the INNO-LiPA CFTR19 and INNO-LiPA CFTR17+Tn Update kits (Innogenetics; Ghent, Belgium). Our first analysis did not reveal both of the responsible mutations; thus, direct sequencing of the CFTR gene coding region was performed. The 3 patients were compound heterozygous. In one allele, the F508del (c.1521_1523delCTT, p.PHE508del) mutation in exon 11 was observed in each case. For the second allele, in patient No.1, direct sequencing revealed an 11-base pair deletion (GAGGCGATACT) in exon 14 (c.2236_2246del; pGlu746Alafs*29). In patient No. 2, direct sequencing revealed a nonsense mutation at nucleotide 3892 (c.3892G>T) in exon 24. In patient No. 3, direct sequencing revealed a deletion of cytosine in exon 27 (c.4296delC; p.Asn1432Lysfs*16). These 3 novel mutations indicate the production of a truncated protein, which consequently results in a non-functional polypeptide.

  18. Biblioteca Virtual de Salud Enfermería Regional: Trayectoria de Construcción, Fuentes de Información, Estrategias y Próximos Pasos.

    PubMed Central

    Lana, Francisco C. F.; Malvárez, Silvina

    2012-01-01

    Resumen La BVS Enfermeria constituye un nuevo paradigma en enfermería una vez que o modelo representa una expansión de la cooperación técnica y ha como objetivos centrales promover la ampliación del acceso la información sobre enfermería la través del acceso universal equitativo y construir un patrimonio informacional en enfermería, ayudando la mejorar la formación y práctica de enfermería a actuar con compromiso ético-social en el área de educación, investigación y atención a la salud. Como resultado del proceso de sensibilización, verifica-se la construcción de Bibliotecas Virtuales de Enfermería en varios países (Brasil, Argentina, Bolívia y Uruguay). La expectativa es que las BVS’s nacionais convergen a un gran portal que se está construyendo en una colaboración con BIREME/OPS/OMS, de la Asesoría Regional de Enfermería de la OPS-Washington y de Ministerio de Salud del Brasil, así como instituciones líderes en la producción del conocimiento en enfermería Iberoamérica. PMID:24199093

  19. 78 FR 30268 - Del Norte County Resource Advisory Committee

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-22

    ... Schools and Community Self-Determination Act (Pub. L. 112-141) (the Act) and operates in compliance with... to review prior year project's progress. Should the Secure Rural Schools Act be reauthorized, the.... ADDRESSES: The meetings will be held at the Del Norte County Unified School District, Redwood Room, 301 West...

  20. "Mexico in Transition." Curriculum Units.

    ERIC Educational Resources Information Center

    Oregon Univ., Eugene. Foreign Language Resource Center.

    These curriculum units were developed in a National Endowment for the Humanities 1994 summer seminar "Mexico in Transition." The 23 lessons are written in Spanish. Lessons are entitled: (1) "La Migracion Mexicana Vista a Traves del Cuento 'Paso del Norte' de Juan Rulfo" (Jose Jorge Armendariz); (2) "Los Grupos Indigenas de…

  1. Sexual Risk Behavior Among Military Personnel Stationed at Border-Crossing Zones in the Dominican Republic

    DTIC Science & Technology

    2010-01-01

    Republic’s Presidential Council on AIDS, known as Copresida (El Consejo Presidencial del Sida ), published the results of its first nation- wide survey of risk...military personnel, Dominican Republic Original research 1. Consejo Presidencial del SIDA (DR). Primera Encuesta de Vigilancia de Comportamiento con

  2. 28. Lithocopy of original survey drawing #X1, dated April 19, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    28. Lithocopy of original survey drawing #X-1, dated April 19, 1911, from linen in possession of General Services Administration, Field Office, Region 7, Fort Worth, Texas. Site survey - Del Rio Federal Building, 100 Broadway, corner of Main Street, Del Rio, Val Verde County, TX

  3. Translations on Latin America, Number 1657

    DTIC Science & Technology

    1977-06-01

    Text] The 17th of last March, Industria del Hierro , S.A. [Iron Industries] delivered through its mechanical division-8 land rigs for drilling...design of this equipment allows it to be re-installed in only 3 days. Industria del Hierro was established in the city of Queretaro in 1963, with

  4. Eventos de Septiembre (September Events).

    ERIC Educational Resources Information Center

    Toro, Leonor, Ed.

    Written in Spanish, this booklet contains brief information on 10 September events celebrated by Puerto Ricans: Arturo Somohano, the beginning of the academic year, Dia del Trabajo (Labor Day), Pedro Albizu Campos, Lola Rodriguez de Tio, William Howard Taft, El Grito de Lares, Dia del Indio Americano (American Indian Day), las retretas, and…

  5. 78 FR 52716 - Proposed Amendment of Class E Airspace; Del Rio, TX

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-26

    ..., Del Rio, TX. An additional segment to the north is needed to contain approach category E military aircraft conducting circling approaches to the airport, to retain the safety and management of IFR aircraft... to enhance the safety and management of Instrument Flight Rules (IFR) operations for instrument...

  6. 2. Historic American Buildings Survey, Frederik C. Gjessing, Photographer January, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    2. Historic American Buildings Survey, Frederik C. Gjessing, Photographer January, 1956 ELEVATION OF CHAPEL AND SALLY PORT TOWARDS THE COURTYARD PLAZA DE ARMAS, SAN FELIPE DEL MORRO. - Castillo de San Felipe del Morro Sally Port & Chapel, Northwest end of San Juan Island, San Juan, San Juan Municipio, PR

  7. Determining sex and life stage of Del Norte salamanders from external cues

    Treesearch

    Lisa Ollivier; Hartwell H. Welsh Jr

    2003-01-01

    Life stage determination for many western plethodontids often requires dissection of the specimen. Availability of reliable external measures that could be applied under field conditions would enhance future studies of the genus Plethodon. We examined preserved specimens of the Del Norte Salamander, Plethodon elongatus, taken from...

  8. Development of an instrumentation plan for the Ohio SPS test pavement (DEL-23-17.48) : final report, October 1994.

    DOT National Transportation Integrated Search

    1994-07-01

    A Specific Pavement Studies (SPS) program, formulated under the Strategic Highway Research Program (SHRP), consists of nine experiments, four of which will be included in this DEL-23 project. Since the basic instrumentation plan proposed by SHRP was ...

  9. Development of an instrumentation plan for the Ohio SPS test pavement (DEL-23-17.48) : executive summary, July 1994.

    DOT National Transportation Integrated Search

    1994-07-01

    A Specific Pavement Studies (SPS) program, formulated under the Strategic Highway Research Program (SHRP), consists of nine experiments, four of which will be included in this DEL-23 project. Since the basic instrumentation plan proposed by SHRP was ...

  10. 77 FR 76624 - Unblocking of Specially Designated Nationals and Blocked Persons Pursuant to the Foreign...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-28

    ..., Fraccionamiento Quintas Del Sol, Chihuahua, Chihuahua, Mexico; DOB 10 Apr 1962; POB Culiacan, Sinaloa, Mexico... Sol, Chihuahua, Chihuahua, Mexico; Calle Ohio 3200, Chihuahua, Chihuahua, Mexico; DOB 19 Jan 1972; POB... Michigan, Fraccionamiento Quintas del Sol, Chihuahua, Chihuahua, Mexico; DOB 05 Oct 1966; POB Chihuahua...

  11. A New Interactive Method to Distance English Learning in Conceptual Age

    ERIC Educational Resources Information Center

    Xu, Wei

    2013-01-01

    Latest advance in information technology and innovative teaching confronts DEL (distance English learning) with new challenges and problems. According to the DEL analysis, the paper firstly presents cloud service's functions to the support service, which serves to distribute and store quality learning resources. Meanwhile, practice-focused…

  12. On the Development of Constitutive Relations for Plain and Reinforced Concrete.

    DTIC Science & Technology

    1982-04-09

    Costitutive e Con- dizioni di Rottura del Calcestruzzo in Stati de Tensione Mono e Pluriassiali." Costruzione in Cemento Armato, Studi e Rendiconti...leggi, costitutive e con- dizioni di rottura del calcestruzzo in stati di tensione mono e pluriassiali." Construzione in Cemento Armato, Studi e

  13. Regulation and Function of TIFAB in Myelodysplastic Syndrome

    DTIC Science & Technology

    2012-06-01

    neutropenia , and elevated platelets associated with dysplastic megakaryocytes are considered to have 5q- syndrome. The majority of MDS patients with del(5q... neutropenia , and elevated platelets associated with dysplastic megakaryocytes are considered to have 5q- syndrome. The majority of MDS patients with del(5q

  14. Tracing the X-Ray Trail

    MedlinePlus

    ... finalizado el examen, el radiólogo, médico entrenado para la lectura de imágenes para diagnóstico, examina las películas. El radiólogo dicta un informe que describe las técnicas utilizadas para adquirir la imagen, el motivo del examen, antecedentes relevantes del ...

  15. 78 FR 47489 - Unblocking of Specially Designated Nationals and Blocked Persons Pursuant to the Foreign...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-05

    ...; c/o INVERPUNTO DEL VALLE S.A., Cali, Colombia; c/o INVERSIONES CIFUENTES Y CIA. S. EN C., Medellin...: INVERPUNTO DEL VALLE S.A.; Linked To: INVERSIONES CIFUENTES Y CIA. S. EN C.; Linked To: LE CLAUDE, S.A. DE C...

  16. Modelizacion, control e implementacion de un procesador energetico paralelo para aplicacion en sistemas multisalida

    NASA Astrophysics Data System (ADS)

    Ferreres Sabater, Agustin

    Cualquier sistema electronico que incluya un procesado o tratamiento de la senal, y ademas, algun tipo de actuador mecanico generalmente necesita, como minimo, dos tensiones diferentes de alimentacion. Excluyendo los sistemas de alimentacion distribuida, la solucion tecnica mas utilizada para proporcionar dos o mas tensiones consiste en las fuentes de alimentacion multisalida. En una fuente de alimentacion multisalida los diferentes circuitos que conforman cada salida comparten un mismo transformador de potencia optimizando coste, masa, y volumen. Las ventajas obtenidas con este procedimiento tienen en su contra el efecto que sobre cada salida individual provocan las demas en su conjunto debido, principalmente, a los efectos de los elementos parasitos de los componentes. Un cambio de carga en una de las salidas produce un transitorio que es visto por todas las demas como un efecto de impedancia cruzada, y al final del transitorio, la tension de cada salida es diferente respecto a la que tenian antes del transitorio. Este ultimo resultado se conoce como regulacion cruzada. La disminucion de los efectos de la regulacion cruzada ha sido objeto de estudio durante los ultimos anos. El objetivo ha sido el desarrollo de distintas estrategias que permiten, desde disminuir los efectos de la regulacion cruzada hasta los niveles deseables, a eliminarla completamente. El resultado final suele suponer una penalizacion sobre el diseno del sistema directamente proporcional al grado de regulacion a conseguir en las distintas salidas. Entre las soluciones propuestas para eliminar la regulacion cruzada las tecnicas de post-regulacion se han consolidado como la opcion mas aceptada ya que, pueden aplicarse a cualquier convertidor y no suponen ninguna complejidad adicional a la hora de plantear el diseno. En esta Tesis Doctoral se abordara el estudio de la tecnica conocida como postregulacion mediante transformador controlado, que si bien se ha empleado en convertidores resonantes, su modelizacion, y aplicacion en convertidores PWM, esta aun por estudiar y valorar. El primer Capitulo consiste en una breve introduccion al problema de la regulacion cruzada y la impedancia cruzada para posteriormente describir las tecnicas de post-regulacion actualmente mas empleadas, con especial atencion al post-regulador con transformador controlado. El Capitulo segundo trata del estudio de las caracteristicas estaticas del postregulador con transformador controlado. Partiendo de los estudios disponibles sobre el postregulador se plantean mejoras en su modo de actuacion y se discuten tres alternativas diferentes para controlar el transformador. Las dos primeras consisten en emplear un convertidor auxiliar Boost en sus dos modos de funcionamiento, continuo y discontinuo. La tercera consiste en controlar el transformador con una tension PWM directamente, sin filtrado. Finalmente se comprueba experimentalmente, para el estado estacionario, el funcionamiento del post-regulador para cada uno de los tres metodos de control. El Capitulo tercero trata de la dinamica de la salida controlada con el post-regulador cuando este emplea un convertidor auxiliar tipo Boost. Mediante la tecnica de promediado de variables de estado se propone el modelo de pequena senal, tanto para el modo continuo como para el modo discontinuo de funcionamiento del convertidor auxiliar. Los resultados mas significativos de esta seccion son las expresiones analiticas de las impedancias cruzadas y de la impedancia de la salida post-regulada. Como complemento al modelo de pequena senal se plantea un modelo de gran senal implementado sobre el simulador Pspice. Con este nuevo modelo se reproducen los resultados obtenidos con el modelo de pequena senal y ademas es posible simular los transitorios en las tensiones de salida ante cambios de carga. La modelizacion del convertidor cuando el transformador se controla con una tension PWM sin filtrar es el objetivo del Capitulo 4. En las secciones siguientes del Capitulo se plantea el correspondiente modelo de gran senal aplicado a un nuevo prototipo experimental, de mayor tension de entrada y mayores corrientes de salida. El final del Capitulo contrasta los resultados experimentales con los teoricos confirmando la utilidad del modelo de gran senal como una herramienta basica de diseno. Finalmente, en el Capitulo 5, se presentan las conclusiones y la valoracion de los diferentes estudios plateados a lo largo de la Tesis Doctoral.

  17. PDGFRα promoter polymorphisms and expression patterns influence risk of development of imatinib-induced thrombocytopenia in chronic myeloid leukemia: A study from India.

    PubMed

    Guru, Sameer Ahmad; Mir, Rashid; Bhat, Musadiq; Najar, Imtiyaz; Zuberi, Mariyam; Sumi, Mamta; Masroor, Mirza; Gupta, Naresh; Saxena, Alpana

    2017-10-01

    Platelet-derived growth factor receptor has been implicated in many malignant and non-malignant diseases. Platelet-derived growth factor receptor-α is a tyrosine kinase and a side target for imatinib, a revolutionary drug for the treatment of chronic myeloid leukemia that has dramatically improved the survival of chronic myeloid leukemia patients. Given the importance of platelet-derived growth factor receptor in platelet development and its inhibition by imatinib, it was intriguing to analyze the role of platelet-derived growth factor receptor-α in relation to imatinib treatment in the development of imatinib-induced thrombocytopenia in chronic myeloid leukemia patients. We hypothesized that two known functional polymorphisms, +68GA insertion/deletion and -909C/A, in the promoter region of the platelet-derived growth factor receptor-α gene may affect the susceptibility of chronic myeloid leukemia patients receiving imatinib treatment to the development of thrombocytopenia. A case-control study was conducted among a cohort of chronic myeloid leukemia patients admitted to the Lok Nayak Hospital, New Delhi, India. A set of 100 patients of chronic myeloid leukemia in chronic phase and 100 age- and sex-matched healthy controls were studied. After initiation of imatinib treatment, the hematological response of chronic myeloid leukemia patients was monitored regularly for 2 years, in which the development of thrombocytopenia was the primary end point. Platelet-derived growth factor receptor-α promoter polymorphisms +68GA ins/del and -909C/A were studied by allele-specific polymerase chain reaction. Platelet-derived growth factor receptor-α messenger RNA expression was evaluated by quantitative real-time polymerase chain reaction. The messenger RNA expression results were expressed as 2 -Δct ± standard deviation. The distribution of +68GA ins/del promoter polymorphism genotypes differed significantly between the thrombocytopenic and non-thrombocytopenic chronic myeloid leukemia patient groups (p < 0.0001). Moreover, +68GA del/del and ins/del genotypes in imatinib-treated chronic myeloid leukemia patients were associated with an increased risk of developing thrombocytopenia, with odds ratios 6.5 (95% confidence interval = 2.02-0.89, p = 0.001) and 6.0 (95% confidence interval = 2.26-15.91, p = 0.0002), respectively. Similarly, -909C/A promoter polymorphism genotype distribution also differed significantly between thrombocytopenic and non-thrombocytopenic chronic myeloid leukemia patient groups (p = 0.02), and a significantly increased risk of imatinib-induced thrombocytopenia was associated with -909C/A polymorphism mutant homozygous (AA) genotypes the odds ratio being 7.7 (95% confidence interval 1.50 to 39.91, p = 0.009). However, no significant risk of imatinib-induced thrombocytopenia was found to be associated with heterozygous genotype (-909C/A) with odds ratio 1.9 (95% confidence interval = 0.86-4.56, p = 1.14). Platelet-derived growth factor receptor-α messenger RNA expression was significantly higher in chronic myeloid leukemia patients compared to controls (p = 0.008). Moreover, patients with imatinib-induced thrombocytopenia had a significantly lower platelet-derived growth factor receptor-α messenger RNA expression, compared to patients without thrombocytopenia (p = 0.01). A differential expression of platelet-derived growth factor receptor-α messenger RNA was observed with respect to different +68 GA ins/del and -909C/A polymorphism genotypes. The +68GA deletion allele and -909A allele were significantly associated with lower expression of platelet-derived growth factor receptor-α messenger RNA. The platelet-derived growth factor receptor-α +68GA del/del, +68GA ins/del, and -909AA genotypes are associated with an increased risk of developing thrombocytopenia in imatinib-treated chronic myeloid leukemia patients. A significantly lower platelet-derived growth factor receptor-α messenger RNA expression accompanies the +68GA deletion allele in an allele dose-dependent manner. Platelet-derived growth factor receptor-α -909AA genotype is also associated with lower expression of platelet-derived growth factor receptor-α. The downregulation of platelet-derived growth factor receptor-α expression may play a causative role in imatinib-induced thrombocytopenia, a common side effect, in the subset of chronic myeloid leukemia patients with platelet-derived growth factor receptor-α +68 GA ins/del, +68 GA del/del, and -909C/A genotypes.

  18. Seguridad del paciente en Radioterapia Intraoperatoria: Impacto de los elementos controlados por el Radiofisico

    NASA Astrophysics Data System (ADS)

    Tarjuelo, Juan Lopez

    Introduccion: En la administracion de la radioterapia intervienen profesionales y equipos de tratamiento, por lo que existe el riesgo de error y se precisa que dicho equipamiento funcione conforme a lo esperado. A los radiofisicos les corresponde participar en las actividades de garantia o aseguramiento de la calidad, incluyendo el control de calidad de los equipos, y en la evaluacion de los riesgos asociados. La radioterapia intraoperatoria (RIO) es una tecnica radioterapica de intensificacion de dosis, altamente selectiva, dirigida a volumenes anatomicos restringidos durante el tratamiento quirurgico oncologico, basada en la administracion de una dosis absorbida alta por medio de un haz de electrones tras el examen visual directo del lecho tumoral. Como incorporar los ultimos avances en el refuerzo de la seguridad en radioterapia es una tarea ambiciosa y compleja, resulta mas concreta y de inmediata aplicacion su introduccion en la RIO. El objetivo es analizar los elementos que reducen los riesgos y aumentan la seguridad en la RIO y su dosimetria, y valorar la funcion del radiofisico en esta labor. Material y metodos: Se emplearon el planificador Radiance de GMV y el acelerador lineal de los tratamientos de RIO Elekta Precise, controlado con el verificador diario de haces Daily QA Check 1090 y medido con las camaras de ionizacion PPC 40, FC65-G y FC65-P de PTW-Freiburg, a su vez verificadas con fuentes radiactivas adecuadas de estroncio-90 modelos CDP y CDC de IBA Dosimetry. Se realizo un analisis de modos de fallo y efectos (failure mode and effect analysis, FMEA) con el fin de identificar los elementos que forman la RIO y aplicar las herramientas necesarias para la minimizacion de los riesgos y la mejora de la seguridad en la tecnica. Se estudiaron las verificaciones diarias de dicho acelerador Precise con el control estadistico de procesos (statistical process control, SPC) y se simularon intervenciones para devolverlo al estado llamado en control. El SPC tambien se uso para estudiar la estabilidad de las camaras de ionizacion mencionadas. Se realizo la dosimetria in vivo en 45 pacientes con MOSFET reforzados mobile TN-502RDM-H, pelicula radiocromica Gafchromic MD-55-2, y se elaboro un modelo teorico para explicar los datos. Por ultimo, al precisarse el uso en RIO de la simulacion virtual y del calculo de la dosis absorbida en el paciente virtual, se ha ilustrado este apartado con la aceptacion y el estado de referencia inicial del planificador de tratamientos modulados con calculo de Monte Carlo Elekta Monaco. Para ello se utilizaron la camara de ionizacion TW31016-0104 y la matriz seven29 de PTW-Freiburg, pelicula radiocromica Gafchromic EBT-2, y diferentes maniquies. Resultados: El FMEA identifico 57 modos de fallo y efectos potenciales. No se experimentaron sucesos relativos a una administracion inadecuada de la dosis absorbida. Se identificaron las revisiones dobles y por un par como claves para reducir los riesgos asociados al equipo de profesionales involucrado en la RIO. Se identificaron tambien oportunidades de mejora con el uso de la automatizacion y el enclavamiento. En cuanto al SPC, los indices de capacidad del proceso abarcaron de 1,6 a 9,3 para un nivel de especificaciones del +/-2%. Las intervenciones simuladas alcanzaron del 2% al 34% de las sesiones de medida. Las camaras de ionizacion Farmer derivaron en direcciones opuestas en un periodo de 6 anos; aunque ello no se aprecio en los informes de calibracion del laboratorio acreditado. No derivo la camara PPC-40. En la dosimetria in vivo, las medidas de los MOSFET no se desviaron significativamente de las medidas con pelicula. Los valores centrales de las dosis absorbidas quedaron entre la dosis absorbida prescrita y la maxima, con lo que indicaron un tratamiento correcto del lecho tumoral. Las anchuras de los intervalos de confianza de las dosis absorbidas esperadas segun el modelo teorico al nivel del 95% abarcaron del 8,6% al 14,7%. Las verificaciones de Monaco resultaron satisfactorias excepto en el caso de la transferencia de datos, que obligo a cambiar el flujo de trabajo. Conclusiones: El FMEA es crucial para priorizar las intervenciones reductoras del riesgo. Tipos diferentes de procesos fallidos se pueden eliminar o paliar con tipos diferentes de tales intervenciones. El SPC puede evaluar la variabilidad inherente del procedimiento monitorizador de haces de electrones, indica cuando intervenir para devolver un proceso al estado de control y si un proceso es capaz con respecto a unas especificaciones o requisitos establecidos. Es viable realizar dosimetria in vivo con un acelerador convencional fijo y obtener resultados satisfactorios en cada localizacion estudiada a pesar de su variabilidad. El modelo teorico desarrollado puede describir con exito resultados globales, aunque no puede explicar todos los datos experimentales. Se ha mostrado que un planificador puede funcionar correctamente en condiciones de laboratorio o trabajando solo; pero puede fallar cuando se conecta con otros equipos de radioterapia. Todos estos aspectos presentados y evaluados aqui constituyen competencias actuales o futuras, y deseables, de los radiofisicos, tanto en el campo de la RIO como en la extension a la radioterapia en su conjunto.

  19. Aquifer-storage change in the lower Canada del Oro Subbasin, Pima County, Arizona, 1996-98

    USGS Publications Warehouse

    Pool, D.R.

    1999-01-01

    Aquifer storage was monitored using gravity methods in the Lower Canada del Oro subbasin from 1996 through 1998 to determine areas of infiltration and amounts of recharge along the Canada del Oro Wash after major surface flow and to estimate aquifer-storage change and specific-yield values for the regional aquifer.  Both purposes were addressed by periodic monitoring of changes in aquifer storage and water levels at a network of gravity stations and monitor wells.  Water levels and gravity were also monitored near an active withdrawal well for several months for the purpose of estimating specific yield of the aquifer within the cone of water-leel depression at the well.

  20. Bretschneider and del Nido solutions: Are they safe for coronary artery bypass grafting? If so, how should we use them?

    PubMed

    Siddiqi, Shirin; Blackstone, Eugene H; Bakaeen, Faisal G

    2018-05-01

    A variety of cardioplegic solutions are being used widely today to arrest the heart during coronary artery bypass grafting (CABG) and other cardiac operations. To minimize interruptions during the surgery for intermittent dosing of the cardioplegia and to facilitate less invasive cardiac procedures, single-shot solutions, including Bretschneider and del Nido solutions, have been introduced. This review examines the evidence regarding the safety and efficacy of Bretschneider and del Nido cardioplegia during CABG. The findings support their use in routine low-risk CABG, but finds insufficient evidence to support their safety in high-risk surgeries. © 2018 Wiley Periodicals, Inc.

  1. Cámara CCD Directa con el Telescopio de 2.15 m del CASLEO: algunos diagnósticos

    NASA Astrophysics Data System (ADS)

    Cellone, S. A.

    Se efectuaron algunas pruebas con la cámara CCD (+ Reductor Focal) instalada en el foco Cassegrain del Telescopio de 2.15 m del Complejo Astronómico El Leoncito (CASLEO). Las conclusiones más significativas son: Los tiempos de exposición efectivos difieren de los nominales en una fracción apreciable de segundo. En exposiciones de menos de 3 segundos, la iluminación no es pareja en todo el detector. En consecuencia, se recomiendan los pasos a seguir por los astrónomos tanto durante la observación como en la reducción de sus datos.

  2. "Gioco del Mondo" an Alpine Hopscotch Game and Prehistoric Cosmology. (Italian Title: Il "Gioco del Mondo" e il cosmo preistorico)

    NASA Astrophysics Data System (ADS)

    Ragazzi, G.

    2015-04-01

    "Gioco del Mondo" ("Hopscotch game" in Anglo-Saxon countries), is a children's game in which the memory of a knowledge belonging to the prehistory of western thought is preserved. The path of the game is an image of the cosmos. The jumps allow the player to move from one region to another in the cosmos, in order to retrieve the pebble, wich is interpreted as a symbol of the human soul. The game is the imitation of a healing ritual in which a shaman brings back the soul kidnapped by a spirit from in his headquarters in a region of the cosmos.

  3. Cayler cardiofacial syndrome and del 22q11: Part of the CATCH22 phenotype

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Giannotti, A.; Digilio, M.C.; Marino, B.

    1994-11-15

    The authors report evidence supporting the hypothesis that del(22)(q11) can be a pathogenetic mechanism for the association between hypoplasia of the depressor anguli oris muscle (DAOM) and conotruncal cardiac malformations. A series of over 180 patients was investigated with deletions of 22q11 with conotruncal defects. About 2/3 of these patients had isolated, nonfamilial cardiac defects. Hemizygosity was searched using the HD7k probe and densitometric analysis. In the patients with molecular evidence of del(22)(q11), hemizygosity was confirmed also using fluorescence in situ hybridization (FISH) with SC11.1 probe. No deletion was found in the parents of hemizygous patients. 16 refs.

  4. Dust and Erosion Control Methods for US Army Construction Projects in Honduras

    DTIC Science & Technology

    1989-06-01

    sano TomT&S *15 14t Ar,,&Ws A.1 141 SanS5 Ivotor 1"M aLa IA. ,.. s-. 8t YOU LA~, Coo O / A 17 I1 (a de Guana~aISLAS SAWrANILLA 30,I i3 2 5...parte del ano; prornedlo de ’H nori above 18’C, temperatura del mes nias fresco, arriba de .ainf c ilTROPICAL WET AND DRY CLIMATE-Dis. CLIMA TROPICAL...temperature del mes mas te :3 tefresco arriba do 18~’C. b1 abH mo [4 WARM TEMPERATE CLIMATE-Winter dry; CL ’MA TEMPLADO HUMEDO-Invierno seco; at least

  5. Comportamiento dinámico de asteroides en la resonancia 2:1

    NASA Astrophysics Data System (ADS)

    López García, F.; Brunini, A.

    El propósito de este trabajo es mostrar los resultados obtenidos del estudio del movimiento de asteroides cercanos a la conmensurabilidad 2:1 con el movimiento medio de Júpiter, analizando el comportamiento de órbitas de asteroides reales y ficticios. Se analizan los tiempos de Lyapunov obtenidos a partir de la integración de las ecuaciones del movimiento. Se han estudiado la órbitas utilizando el modelo de cinco cuerpos y se han considerado los casos planar y espacial. Las simulaciones numéricas se realizaron utilizando integradores simpléticos y el intervalo de tiempo de integración fue de T = 107 años.

  6. Estudio de los Efectos Gravitomagnéticos en Cuerpos Masivos Rotantes

    NASA Astrophysics Data System (ADS)

    Velandia Heredia, N.; Tejeiro, J. M.

    2008-03-01

    A partir del estudio de los Efectos Gravitomagnéticos en cuerpos masivos rotantes, planteamos la expresión para medir el desfase en el tiempo, para diferentes observadores, que se dan cuando viajan dos rayos de luz por una guía de onda o de manera libre (geodésicas), en el plano azimutal y en el plano polar. Con lo anterior queremos abordar el experimento tipo Michelson y Morley, de forma que podamos involucrar el valor de la densidad del momento angular (a) en el retraso temporal para los dos haces de luz que viajan por los brazos del interferómetro, cuando este último es ubicado en el plano ecuatorial.

  7. Venetoclax for Treating Chronic Lymphocytic Leukaemia: An Evidence Review Group Perspective of a NICE Single Technology Appraisal.

    PubMed

    Mistry, Hema; Nduka, Chidozie; Connock, Martin; Colquitt, Jill; Mantopoulos, Theodoros; Loveman, Emma; Walewska, Renata; Mason, James

    2018-04-01

    Venetoclax is licensed to treat relapsed or refractory (R/R) chronic lymphocytic leukaemia (CLL). As part of the Single Technology Appraisal (STA) ID944, the National Institute for Health and Care Excellence (NICE) invited AbbVie, the manufacturer, to submit evidence on the use of venetoclax, within its licensed indication. The Evidence Review Group (ERG), Warwick Evidence, was asked to provide an independent and critical review of the submitted evidence. Evidence came from three single-arm trials in CLL patients with or without 17p deletion [del(17p])/TP53 chromosomal abnormalities. The anticipated licensed indication specified that venetoclax-eligible del(17p)/TP53 patients should have not responded to, or be deemed unsuitable for, B-cell receptor inhibitor (BCRi) therapy, and that non-del(17p)/TP53 patients should have not responded to both chemoimmunotherapy and BCRi therapy. The three trials were heterogeneous in terms of both del(17p)/TP53 status and previous exposure to BCRi therapy. The M13-982 study investigated 158 R/R CLL patients with the 17p deletion, but only a small number had received previous BCRi therapy; the M12-175 study investigated 67 patients with CLL or small lymphocytic lymphoma, some with the 17p deletion, but very few previously treated with BCRi therapy; and the M14-032 study included 105 patients previously treated with BCRi therapy (either idelalisib or ibrutinib), some of whom had unknown mutation status. The ERG concluded that the study populations did not directly conform to those specified in the licensed indication or in the NICE scope. Outcomes reported included overall response rate (ORR), duration of response, progression-free survival (PFS) and overall survival (OS); adverse events were reported for the pooled population of all three studies, as well as separately for each study. The median PFS was 41.4 and 27.2 months among patients in the M12-175 and M13-982 trials, respectively, whereas the median PFS was not reached in the M14-032 trial. Some results were designated academic in confidence and cannot be reported here. The submission provided a de novo partitioned survival cost-effectiveness model with three health states: pre-progression, post-progression and dead. Transition probabilities between health states were estimated using Weibull models for PFS and OS. The ERG judged the model structure to be appropriate. Venetoclax was compared with best supportive care (BSC) in patients with or without del(17p)/TP53 mutation status, and with palliative care (PC). To populate the del(17p)/TP53 venetoclax arm, the submission pooled del(17p)/TP53 patients from all three studies and fitted Weibull models for PFS and OS. PFS and OS models for non-del(17p)/TP53 venetoclax patients were obtained by applying hazard ratios (HRs) to the del(17p)/TP53 OS and PFS models, derived using Cox's regression analysis comparing del(17p)/TP53 and non-del(17p)/TP53 patients pooled from the M14-032 and M12-175 studies. The ERG expressed reservations about the company's pooling procedure, but acknowledged its expedience given the small evidence base. For the BSC comparator arm, the submission used the rituximab + placebo arm from a randomised controlled trial comparing idelalisib + rituximab versus placebo + rituximab ('study 116'). Weibull regression data for OS and PFS were taken from the idelalisib STA (ID764) submitted by Gilead to NICE. The ERG considered the use of the study 116 rituximab arm to be inconsistent with the licensed indication for venetoclax because these patients had neither not responded to nor were inappropriate for BCRi therapy, being eligible to be randomised to idelalisib. Another difficulty was the requirement for a technical correction in survival analysis because of considerable switching from rituximab to idelalisib. The ERG considered that post-progression survival of patients from the idelalisib arm of study 116 provided a more appropriate representation of BSC since these patients had not responded to BCRi therapy, consistent with venetoclax's licensed indication. For PC, the company submission used data from the UK CLL Forum. The company's base-case analysis indicated that venetoclax was clinically effective, but the resulting incremental cost-effectiveness ratios (ICERs) for del(17p)/TP53 (£39,940/quality-adjusted life-year [QALY] gained) and non-del(17p)/TP53 (£47,370/QALY gained) patients were well above the NICE threshold of £20,000-30,000/QALY. The ERG identified two errors in the implementation of the company's parametric models-one related to the implementation of HRs, and the other to the derivation of the Weibull shape parameters obtained from the Gilead idelalisib submission. The ERG made plausible adjustments to the company's base-case and corrected errors, resulting in a reduced estimate of the cost effectiveness of venetoclax in non-del(17p)/TP53 and del(17p)/TP53 indications; in the ERG's preferred base case, using post-progression survival of patients in the idelalisib arm of study 116 as the BSC comparator, deterministic ICERs were higher than the company's base-case for both indications: £57,476/QALY gained for del(17p)/TP53 and £77,779/QALY gained for non-del(17p)/TP53. The NICE Appraisal Committee's preliminary recommendation was that venetoclax used within its licensed indication should not be recommended for use in the National Health Service (NHS). In response to the preliminary recommendation, the company submitted new analyses; however, at a subsequent appraisal committee meeting, the original recommendation was upheld and the committee concluded there were large uncertainties around the clinical effectiveness of venetoclax and BSC, and that under the committee's preferred assumptions, the ICERs were higher than those generally considered cost effective, even when end-of-life criteria were taken into account. The company submitted further evidence, and the final guidance recommended venetoclax for use with the Cancer Drugs Fund for the two populations in this technology appraisal.

  8. Guía para la evaluación del riesgo de los polinizadores

    EPA Pesticide Factsheets

    La Guía para la evaluación del riesgo de los polinizadores de la EPA es parte de una estrategia de la evaluación de los riesgos que presentan los pesticidas para las abejas a fin de mejorar la protección de los polinizadores.

  9. Test Review: Prueba del Desarrollo Inicial del Lenguaje.

    ERIC Educational Resources Information Center

    Crawford, Alan N.

    1985-01-01

    Concludes that the PDIL (the Spanish version of the Test of Early Language Development) should be used with caution. Since its reliability and validity were determined with the English language version, the method used to translate test items may have some ambiguities, and some illustrations on picture cards may not be culturally appropriate for…

  10. Land Ownership and Migration: Impact on the Muslim Secessionist Conflict in the Southern Philippines

    DTIC Science & Technology

    2009-12-01

    provinces (provinces of of Tawi-Tawi, Sulu, Basilan, Lanao del Sur and Maguindanao), and some municipalities of Zamboanga del Sur, Zamboanga Sibugay...Muslim Filipinos, edited by Peter G. Gowing and Robert D. McAmis. Manila: Solidaridad Publishing House, 1974. 72 Mercado , Elesio. as cited in Lawrence

  11. Diet of the Del Norte Salamander (Plethodon elongatus): Differences by age, gender, and season.

    Treesearch

    Clara A. Wheeler; Nancy E. Karraker; Hartwell H. Welsh; Lisa M. Ollivier

    2007-01-01

    Terrestrial salamanders are integral components of forest ecosystems and the examination of their feeding habits may provide useful information regarding various ecosystem processes. We studied the diet of the Del Norte Salamander (Plethodon elongatus) and assessed diet differences between age classes, genders, and seasons. The stomachs of 309...

  12. Hydrographic Measurements in the Western Arlboran Sea, October 1982.

    DTIC Science & Technology

    1984-04-01

    about 1 km. Individual fixes based on the satellite system were accurate to about 0.5 km and on omega to about 2.0 km. 9 Table 3. Salinity Calibration...Activity Technical Note 224. 100 p. Cano, C. and F.F. de Castillejo (1972). Contribucion al Conocimiento del Mar de Alboran: III. Variaciones del

  13. 78 FR 74008 - Amendment of Class E Airspace; Del Rio, TX

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-10

    ... Laughlin Air Force Base (AFB). The FAA is taking this action to enhance the safety and management of... at Laughlin AFB, Del Rio, TX. An additional segment to the north is needed to contain approach category E military aircraft conducting circling approaches to the airport, to retain the safety and...

  14. Access to Information in Both CitaDel and FirstSearch: A Comparative Study of Dissertation Coverage.

    ERIC Educational Resources Information Center

    Perry, Stephen; Salisbury, Lutishoor

    1995-01-01

    Presents a comparative analysis of electronic access to theses and dissertations through CitaDel and FirstSearch. Highlights include the effectiveness and ease of use in providing enduser access; strengths and weaknesses of searching capabilities; coverage; pricing; and examples of direct retrieval comparison. (LRW)

  15. Pathogenicity of Phytophthora austrocedrae on Austrocedrus chilensis and its relation with mal del ciprés in Patagonia

    Treesearch

    A. G. Greslebin; E. M. Hansen

    2010-01-01

    Field observations, isolations and pathogenicity tests were performed on Austrocedrus chilensis (Cupressaceae) trees to determine the pathogenicity of Phytophthora austrocedrae and its role in the aetiology of the cypress disease mal del ciprés (MDC) in Argentina. It was found that P. austrocedrae...

  16. ATMOSPHERIC VOLATILE ORGANIC COMPOUND MEASUREMENTS DURING THE 1996 PASO DEL NORTE OZONE STUDY

    EPA Science Inventory

    Ambient air VOC samples were collected at surface air quality monitoring sites, near sources of interest, and aloft on the US (El Paso) and Mexican (Ciudad Juarez) side of the border during a six-week period of the 1996 Paso del Norte Ozone Study. Samples were collected at five...

  17. Medición de coeficientes de extinción en CASLEO y características del CCD ROPER-2048B del telescopio JS

    NASA Astrophysics Data System (ADS)

    Fernández-Lajús, E.; Gamen, R.; Sánchez, M.; Scalia, M. C.; Baume, G. L.

    2016-08-01

    From observations made with the ``Jorge Sahade'' telescope of the Complejo Astronomico El Leoncito, the UBVRI-band extinction coeficients were measured, and some parameters and characteristics of the direct-image CCD camera ROPER 2048B were determined.

  18. Los Protectores del Planeta: actividades para niños y recursos educativos sobre reciclaje

    EPA Pesticide Factsheets

    Información sobre el Club Protectores del Planeta que enseña cómo reducir la basura desde el punto de origen, cómo reciclar y conservar los recursos naturales. La información incluye recursos educativos para el salón de clases.

  19. Introduction to the Therapeutic Drawing Series

    ERIC Educational Resources Information Center

    Del Giacco, Maureen

    2011-01-01

    The primary purpose of Del Giacco's Neuro-Art Therapy is to help the client regenerate the sensory system at a decoding/encoding (for our purposes we use the two words interchangeably) levels in the brain while using developmental visual spatial exercises or the Therapeutic Drawing Series (TDS). The specialty of Del Giacco Neuro Art Therapy (DAT)…

  20. Shed Some Light on the Subject: Teaching Ramon del Valle-Inclan's "Luces de bohemia"

    ERIC Educational Resources Information Center

    Parker, Jason Thomas

    2011-01-01

    This essay seeks to provide parallel and interchangeable approaches to teaching Ramon del Valle-Inclan's challenging play "Luces de bohemia". A greater understanding of the cultural and mental frameworks of the early twentieth-century Spanish spectator will permit students to penetrate the dense intertextuality that characterizes Valle's…

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