La colección nuclear española de cebada: diversidad genética y potencial agronómico

La colección nuclear de cebadas españolas es un recurso fitogenético puesto a punto gracias a un esfuerzo de colaboración entre el IRTA de Cataluña, el ITA de Castilla-León y la EEAD-CSIC de Zaragoza. Es una representación sistematizada de la diversidad genética existente en la colección de referencia guardada en el Centro de Recursos Fitogenéticos del INIA, que conserva más de 2.000 entradas de Hordeum, la mayoría de ellas cebadas autóctonas. Este trabajo presenta la evaluación de la diversidad genética y agronómica de esta colección. La diversidad genética de esta colección fue evaluada mediante marcadores moleculares, concretamente sesenta y cuatro microsatélites, distribuidos por los siete cromosomas. En total, fueron examinados 225 genotipos de cebada. De ellos, 159 líneas puras (148 de seis carreras y 11 de dos carreras) procedentes de variedades locales y 16 variedades antiguas de larga tradición en España, conforman la colección nuclear. Además fueron evaluadas otras 50 entradas testigos de otros orígenes, mayoritariamente europeas. El conjunto de microsatélites empleado detectó un alto grado de polimorfismo general. Asimismo, se identificaron numerosos alelos específicos de grupos de germoplasma, especialmente en las entradas españolas de 6 carreras. Los análisis multivariantes (cluster y coordenadas principales) llevados acabo sobre una matriz de distancias genéticas, así como el análisis de la estructura de población, realizado mediante el programa STRUCTURE, separaron claramente los genotipos de 6 carreras españoles de los europeos. Las entradas de 2 carreras españolas se separaron menos de las variedades de 2 carreras de primavera del conjunto de referencia. Todos estos análisis apuntaron la existencia de dos grupos principales dentro de las entradas españolas de seis carreras. Estos dos grupos mostraron diferencias en distribución geográfica y aparecen tener orígenes distintos. La asociación entre los alelos de 73 marcadores analizados y los parámetros eco-geográficos del lugar de recolección de las entradas de la colección nuclear, mostró que la distribución geográfica de algunos alelos está influenciada por dichos parámetros, lo que sugiere que los patrones de diversidad observados pueden haber sido cuidados en parte por fuerzas adaptativas. La evaluación agronómica de las entradas autóctonas de la colección nuclear, junto con 26 variedades comerciales fue llevada a cabo en diez ensayos, a lo largo de tres años y un total de cinco localidades. Esta evaluación puso de manifiesto la mayor variabilidad existente en las entradas autóctonas par muchos caracteres, en consonancia con la notable diversidad detectada a nivel molecular. Esta evaluación permitió también resaltar en general la superioridad de las variedades comerciales frente a las entradas de la colección nuclear, pero mostró también la estabilidad de estas últimas en condiciones desfavorables. Un análisis de mapeo por asociación a escala del genoma fue llevado a cabo en la totalidad de las entradas de la colección nuclear y también en uno de los grupos genéticos. Este análisis detectó un gran número de asociaciones, que disminuyó drásticamente al tener en cuenta la estructura de poblaciones en el análisis. La mayoría de las asociaciones más probables reveladas coincidieron con QTLs detectados en poblaciones biparentales, o con posiciones de genes conocidos.Esta tesis se realizó gracias a una beca de la Agencia Española de Cooperación Internacional y a la financiación de los proyectos del Ministerio de Educación y Ciencia: - Programa Nacional de Recursos y Tecnología Agroalimentaria (INIA) RTA01-088-C3-3 y RF02-016-C2-1; - Plan Nacional AGL2004-05311.Peer reviewe

Genomic instability influences the transcriptome and proteome in endometrial cancer subtypes

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Sequential surgical resection of hepatic and pulmonary metastases from colorectal cancer

# The Author(s) 2010. This article is published with open access at Springerlink.com Background Resection of isolated hepatic or pulmonary metastases from colorectal cancer is widely accepted and associated with a 5-year survival rate of 25–40%. The value of aggressive surgical management in patients with both hepatic and pulmonary metastases still remains a controversial area. Materials and methods A retrospective review of 1,497 patients with colorectal carcinoma (CRC) was analysed. Of 73 patients identified with resection of CRC and, at some point in time, both liver and lung metastases, 17 patients underwent metastasectomy (resection group). The remaining 56 patients comprised the non-resection group. Primary tumour, hepatic and pulmonary metastases of all patients were surgically treated in our department of surgery, and the results are that of a single institution. Results The resection group had a 3-year survival of 77%, a 5-year survival of 55 % and a 10-year survival of 18%; median survival was 98 months. The longest overall survival was 136 months; six patients are still alive. In the resection group, overall survival was significantly higher than in the non-resection group (p<0.01). Independent from the chronology of metastasectomy, 5-year survival was 55 % with respect to the primary resection, 28 % with respect to the first metastasectomy and 14 % with respect t

Medical treatment of pulmonary hypertension in adults with congenital heart disease : updated and extended results from the International COMPERA-CHD Registry

Funding Information: The authors are indebted to the COMPERA investigators and their staff. We explicitly thank Dr. Claudia S. Copeland for the professional editing of the final draft of the manuscript. Funding: COMPERA is funded by unrestricted grants from Acceleron, Actelion Pharmaceuticals (Janssen), Bayer, OMT and GSK. These companies were not involved in data analysis or the writing of this manuscript. Funding Information: ICMJE uniform disclosure form (available at https:// dx.doi.org/10.21037/cdt-21-351). The series “Current Management Aspects in Adult Congenital Heart Disease (ACHD): Part IV” was commissioned by the editorial office without any funding or sponsorship. Dr. DH reports non-financial support from Actelion, Boehringer-Ingelheim, and Shire, outside the submitted work; Dr. DP reports personal fees from Actelion, Biogen, Aspen, Bayer, Boehringer Ingelheim, Daiichi Sankyo, and Sanofi, outside the submitted work; Dr. MD reports personal fees from Actelion, Bayer, GSK and MSD, outside the submitted work; Dr. HAG reports personal fees from Actelion, Bayer, Gilead, GSK, MSD, Pfizer and United Therapeutics, outside the submitted work; Dr. MG reports personal fees from Actelion, Bayer and GSK, outside the submitted work; Dr. MMH reports personal fees from Acceleron, Actelion, Bayer, MSD and Pfizer, outside the submitted work; Dr. CDV reports personal fees from Actelion, Bayer, GSK, MSD, Pfizer, and United Therapeutics, outside the submitted work; Dr. RE reports personal fees from Actelion, Boehringer Ingelheim, OMT, Bayer, and Berlin Chemie; grants from Actelion and Boehringer Ingelheim, outside the submitted work; Dr. MH reports grants and personal fees from Actelion, personal fees from Bayer, Berlin Chemie, Boehringer Ingelheim, GSK, Janssen, Novartis and MSD, outside the submitted work; Dr. MH reports personal fees from Acceleron, Actelion, AstraZeneca, Bayer, BERLIN CHEMIE, GSK, MSD, Novartis and OMT, outside the submitted work; Dr. HW reports personal fees from Action, Bayer, Biotest, Boehringer, GSK, Pfizer, and Roche, outside the submitted work; Dr. DS reports personal fees from Actelion, Bayer, and GSK, outside the submitted work; Dr. LS reports personal fees from Actelion, Bayer, and MSD, outside the submitted work; Dr. SU reports grants from Swiss National Science Foundation, Zurich Lung, Swiss Lung, and Orpha Swiss, grants and personal fees from Actelion SA/Johnson & Johnson, Switzerland, and MSD Switzerland, outside the submitted work; Dr. TJL reports personal fees from Actelion, Janssen-Cilag, BMS, MSD, and OMT GmbH, outside the submitted work; Dr. LB reports personal fees from Actelion, outside the submitted work; Dr. MC reports personal fees from Boehringer Ingelheim Pharma GmbH, Roche Pharma, and Boehringer Ingelheim, outside the submitted work; Dr. HW reports personal fees from Boehringer Ingelheim, and Roche, outside the submitted work. Dr. EG reports personal fees from Actelion, Janssen, Bayer, MSD, Bial, OrPha Swiss GmbH, OMT and Medscape, outside the submitted work; Dr. SR reports personal fees from Actelion, Bayer, GSK, Pfizer, Novartis, Gilead, MSD, and United Therapeutics, outside the submitted work. The authors have no other conflicts of interest to declare. Publisher Copyright: © Cardiovascular Diagnosis and Therapy. All rights reserved.Background: Pulmonary arterial hypertension (PAH) is common in congenital heart disease (CHD). Because clinical-trial data on PAH associated with CHD (PAH-CHD) remain limited, registry data on the long-term course are essential. This analysis aimed to update information from the COMPERA-CHD registry on management strategies based on real-world data. Methods: The prospective international pulmonary hypertension registry COMPERA has since 2007 enrolled more than 10,000 patients. COMPERA-CHD is a sub-registry for patients with PAH-CHD Results: A total of 769 patients with PAH-CHD from 62 specialized centers in 12 countries were included into COMPERA-CHD from January 2007 through September 2020. At the last follow-up in 09/2020, patients [mean age 45.3±16.8 years; 512 (66%) female] had either post-tricuspid shunts (n=359; 46.7%), pre-tricuspid shunts (n=249; 32.4%), complex CHD (n=132; 17.2%), congenital left heart or aortic valve or aortic disease (n=9; 1.3%), or miscellaneous CHD (n=20; 2.6%). The mean 6-minute walking distance was 369±121 m, and 28.2%, 56.0%, and 3.8% were in WHO functional class I/II, III or IV, respectively (12.0% unknown). Compared with the previously published COMPERA-CHD data, after 21 months of followup, the number of included PAH-CHD patients increased by 91 (13.4%). Within this group the number of Eisenmenger patients rose by 39 (16.3%), the number of “Non-Eisenmenger PAH” patients by 45 (26.9%). Currently, among the 674 patients from the PAH-CHD group with at least one follow-up, 450 (66.8%) received endothelin receptor antagonists (ERA), 416 (61.7%) PDE-5 inhibitors, 85 (12.6%) prostacyclin analogues, and 36 (5.3%) the sGC stimulator riociguat. While at first inclusion in the COMPERA-CHD registry, treatment was predominantly monotherapy (69.3%), this has shifted to favoring combination therapy in the current group (53%). For the first time, the nature, frequency, and treatment of significant comorbidities requiring supportive care and medication are described. Conclusions: Analyzing “real life data” from the international COMPERA-CHD registry, we present a comprehensive overview about current management modalities and treatment concepts in PAH-CHD. There was an trend towards more aggressive treatment strategies and combination therapies. In the future, particular attention must be directed to the “Non-Eisenmenger PAH” group and to patients with complex CHD, including Fontan patients.publishersversionPeer reviewe