971 resultados para TRISOMY-21


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Julkaistu Silva Fennica Vol. 21(4) -numeron liitteenä.

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Myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders whose etiology and molecular pathogenesis are poorly understood. During the past decade, enormous developments in microarray technology and bioinformatics methods have made it possible to mine novel molecular alterations in a large number of malignancies, including MPN and MDS, which has facilitated the detection of new prognostic, predictive and therapeutic biomarkers for disease stratification. By applying novel microarray techniques, we profiled copy number alterations and microRNA (miRNA) expression changes in bone marrow aspirate and blood samples. In addition, we set up and validated an miRNA expression test for bone marrow core biopsies in order to utilize the large archive material available in many laboratories. We also tested JAK2 mutation status and compare it with the in vitro growth pattern of hematologic progenitors cells. In the study focusing on 100 MPN cases, we detected a Janus kinase 2 (JAK2) mutation in 71 cases. We observed spontaneous erythroid colony growth in all mutation-positive cases in addition to nine mutation negative cases. Interestingly, seven JAK2V167F negative ET cases showed spontaneous megakaryocyte colony formation, one case of which also harbored a myeloproliferative leukemia virus oncogene (MPL) mutation. We studied copy number alterations in 35 MPN and 37 MDS cases by using oligonucleotide-based array comparative hybridization (array CGH). Only one essential thrombocythemia (ET) case presented copy number alterations in chromosomes 1q and 13q. In contrast, MDS cases were characterized by numerous novel cryptic chromosomal aberrations with the most common copy number losses at 5q21.3q33.1 and 7q22.1q33, while the most common copy number gain was trisomy 8. As for the study of the bone marrow core biopsy samples, we showed that even though these samples were embedded in paraffin and underwent decalcification, they were reliable sources of miRNA and suitable for array expression analysis. Further, when studying the miRNA expression profiles of the 19 MDS cases, we found that, compared to controls, two miRNAs (one human Epstein-Barr virus (miR-BART13) miRNA and one human (has-miR-671-5p) miRNA) were downregulated, whereas two other miRNAs (hsa-miR-720 and hsa-miR-21) were upregulated. However, we could find no correlation between copy number alterations and microRNA expression when integrating these two data. This thesis brings to light new information about genomic changes implicated in the development of MPN and MDS, and also underlines the power of applying genome-wide array screening techniques in neoplasias. Rapid advances in molecular techniques and the integration of different genomic data will enable the discovery of the biological contexts of many complex disorders, including myeloid neoplasias.

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An efficient strategy for the construction of the spiro[4,5]decane and eremane systems is described which involves an acid-catalysed rearrangement of an endo alcohol, followed by an oxidative cleavage resulting in the generation of a spiro-system, as the key step, This methodology is extended to the total synthesis of (+/-)-hinesol and (+/-)-10-epi-hinesol 2.

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La convocatoria a recorrer un “Año de la fe” permitió a Benedicto XVI centrar su alocución de 2012 a la Rota romana en ese próximo acontecimiento eclesial. La extrema importancia que el Pontífice atribuye a su llamada a renovar la fe católica se puso de manifiesto en las palabras que dirigiera unos días más tarde a la plenaria de la Congregación para la Doctrina de la Fe...

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Contenido: Clima emocional, inseguridad y miedo al delito : percepciones diferenciales en función del auto-posicionamiento ideológico / M. Muratori ; E. M. Zubieta -- Análisis de la relación entre optimismo, calidad de vida y estabilidad emocional en personas con cáncer / A. M. Massone ; D. M. Llull -- La carpeta escolar : muestrario de actividades y espejo del esfuerzo asociado a los aprendizajes escolares en jóvenes y adultos / M. C. Facciola ; M. C. Aguilar Rivera -- Autoeficacia académica, burnout académico y desgranamiento universitario / Irene Noemí Karpiuk Chub ; Ricardo Omar Opazo ; Andrea Ivette Gómez -- Incidencia de la matriz de creencias compartidas y la centralidad sociocognitiva en la construcción de significados y formación de consensos / Jorge R. Vivas -- Recensión bibliográfica

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Contenido: Editorial – Algunas cuestiones sobre el derecho subjetivo / Héctor H. Hernández – Derecho Natural y Ley Natural / Daniel Alejandro Herrera – La historia del derecho romano en Digesto 1, 2, 2 / Alfredo Grieco y Bavio – Matrimonio y divorcio en la Roma primitiva / Rodolfo Jorge De Lorenzi – De la naturaleza del edicto del pretor / Edmundo J. Carbone – La seducción publicitaria subliminal, nuevo vicio del consentimiento contractual / Luis Carlos Consiglieri – Contratos de renta : la renta vitalicia frente a la jubilación privada / Juan Abel Díaz – Instituto de filosofía del derecho y derecho natural, Rosario (memoria de cinco años de actividad) – Ciencias políticas: Las disciplinas políticas / José María Medrano – Condiciones para la persistencia del sistema democrático / Francisco Arias Pelerano – Reflexiones sobre geopolítica y soberanía territorial / Jorge A. Fraga – El V Centenario del descubrimiento de América y los primeros nacionalistas / Elena Piñeiro de Salaverry – Documentos -- Recensiones

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Contenido: Del autonomismo trascendental al amoralismo actual / La Dirección – Nuevo espiritualismo y metafísica clásica / Humberto A. Padovani – Primera determinación del concepto de bien común en el pensamiento político de Santo Tomás / Benito Raffo Magnasco – Aproximación a la muerte : ensayo de una fenomenología de la muerte / José Rubén Sanabria – Notas y comentarios – Bibliografía

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<正> 一、力学发展的趋势 1.20世纪力学的巨大成就 本世纪初边界层理论的提出,对力学的发展起了划时代的作用。从此,流体力学能够成功地解释流动对物体的阻力与升力,为航空、航天的发展奠定了科学基础。这个典型也影响与推动了其他力学分支的发展,使力学研究的内涵有了空前的充实、扩大与深化。早在20年代初便形成了活跃于整个20世纪内容广泛的应用力学,成为工程与应用科学的支柱。人们把空气动力学的研究看作是本世纪以科学为基础将航

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回顾力学发展史,阐明在科技发展过程中力学对于认识自然规律和解决工程技术问题中的地位和作用;提出在固体力学、流体力学、一般力学以及有关力学的若干交叉学科领域中的一些重要研究课题;展望21世纪(特别是21世纪前期)的力学发展趋势.

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回顾力学发展史,阐明在科技发展过程中力学对于认识自然规律和解决工程技术问题中的地位和作用;提出在固体力学、流体力学、一般力学以及有关力学的若干交叉学科领域中的一些重要研究课题;展望21世纪(特别是21世纪前期)的力学发展趋势。

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Críticas à reportagem publicada na revista O Cruzeiro a respeito de verbas destinadas à construção da cidade de Brasília, futura capital da República.

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Em aparte a pronunciamento em que o Deputado Heitor de Alencar Furtado discute a PEC 2/79, sustenta que a falta de uma representação política que fiscalize os atos do Governo do Distrito Federal enseja ocorrências como a do emprego de vultosos recursos na construção de um parque recreativo, apesar da carência total nos setores de saúde e educação. Observa que a Comissão do Distrito Federal do Senado, o único órgão fiscalizador dos atos do Governo do Distrito Federal, não é composta de representantes eleitos pelos habitantes da Capital da República.