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    004 - A Novel Familial Case of Diffuse Leukodystrophy Related to NDUFV1 Compound Heterozygous Mutations
    (2013-07-30) Rivera-Nieto, C.; Mateus, H.; Ortega-Recalde, O.; Fonseca Mendoza, Dora Janeth; Patiño, L.; Restrepo Fernández, Carlos Martín; Van der Knaap, M.; Laissue, P.
    Introduction: Mitochondrial leukodystrophy due to complex I deficiency is an entity with high genetic heterogeneity, the mutations of the gene NDUFV1 being one of the causes of this disease. It is an autosomal recessive entity that causes a variable phenotype, from a fatal neonatal onset to neurodegenerative disorders in adulthood. Problem Studied: We report 2 siblings, 5 and 2 years of age, with nystagmus, ataxia, impaired consciousness, hemiparesis, hyporeflexia, and psychomotor regression. In brain magnetic resonance imaging, signal abnormalities in large regions of the cerebral white matter were observed, suggesting a demyelinating disease. Materials and Methods: Genomic DNA was obtained from whole blood. The complete coding region of NDUFV1 was amplified in patients and their parents. Each amplicon was purified. Direct sequencing was performed. Intron 6 and exon 7 amplicons from patient 1 were cloned. A skin biopsy was performed in the mother. RNA was isolated. The NDUFV1 complementary DNA (cDNA) was amplified and directly sequenced. In silico analysis was performed. Following diagnosis, treatment with ubiquinol and riboflavin was started. Results: Both patients have the missense mutation c.1156C> T and the 42-base pair deletion in the gene NDUFV1. Bioinformatics analysis indicates that this deletion leads to messenger RNA (mRNA) synthesis with a premature stop codon. Probably, mutant mRNAs were recognized and degraded by the nonsense-mediated mRNA machinery. Analysis of the maternal NDUFV1 cDNA supports this hypothesis. Conclusion: Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations. We can affirm that the mutations are causative of the phenotype. The patients are having a good therapeutic response to the treatment.
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    16/6-idiotype expressing antibodies induce brain inflammation and cognitive impairment in mice: the mosaic of central nervous system involvement in lupus
    (2013-04-04) Shaye, Kivity; Katzav, Aviva; Arango, María-Teresa; Landau-Rabi, Moran; Zafrir, Yaron; Agmon-Levin, Nancy; Blank, Miri; Anaya, Juan-Manuel; Mozes, Edna; Chapman, Joab; Shoenfeld, Yehuda
    Background: The 16/6-idiotype (16/6-Id) of the human anti-DNA antibody was found to induce experimental lupus in naive mice, manifested by production of autoantibodies, leukopenia and elevated inflammatory markers, as well as kidney and brain involvement. We assessed behavior and brain pathology of naive mice injected intracerebra-ventricularly (ICV) with the 16/6-Id antibody. Methods: C3H female mice were injected ICV to the right hemisphere with the human 16/6-Id antibody or commercial human IgG antibodies (control). The mice were tested for depression by the forced swimming test (FST), locomotor and explorative activity by the staircase test, and cognitive functions were examined by the novel object recognition and Y-maze tests. Brain slices were stained for inflammatory processes. Results: 16/6-Id injected mice were cognitively impaired as shown by significant differences in the preference for a new object in the novel object recognition test compared to controls (P = 0.012). Similarly, the preference for spatial novelty in the Y-maze test was significantly higher in the control group compared to the 16/6-Id-injected mice (42% vs. 9%, respectively, P = 0.065). Depression-like behavior and locomotor activity were not significantly different between the16/6-Id-injected and the control mice. Immunohistochemistry analysis revealed an increase in astrocytes and microglial activation in the hippocampus and amygdala, in the 16/6-Id injected group compared to the control. Conclusions: Passive transfer of 16/6-Id antibodies directly into mice brain resulted in cognitive impairments and histological evidence for brain inflammation. These findings shed additional light on the diverse mosaic pathophysiology of neuropsychiatric lupus.
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    1607. Una hipótesis sobre la formación de Estado en los Andes Colombianos
    (2006-10) Chaparro Amaya, Adolfo
    Actualmente es un lugar común de la filosofía política reconocer una violencia anterior, un exceso de fuerza que legitima y antecede toda fundación de Estado. En el caso colombiano, no está claro cómo y por qué el acontecimiento mismo de la fundación borra las huellas de esa violencia para hacer visible sólo el Estado-institución (Colonia), o para magnificar los ritos y los emblemas aglutinadores del Estado-nación (República). Nuestra pretensión es abordar el problema desde la investigación de la génesis del Estado en la Nueva Granada, con la intuición de que el diagrama básico de configuración estatal surgido en el siglo XVI es pertinente en un análisis actual del Estado-nación en Colombia.
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    20 años de la caída del Muro de Berlín
    (2010-01-01) Leiteritz, Ralf Juan
    Hace veinte años era un adolescente en último año de bachillerato en Leipzig, la segunda ciudad más grande de Alemania Oriental, a unos 150 kilómetros al sur de Berlín. Pasé mi niñez y cursé mi educación preuniversitaria en la República Democrática Alemana; en otras palabras, detrás de la llamada “Cortina de Hierro”. Mi educación estuvo dominada por la ideología socialista y fuertemente controlada por el Partido Comunista. El currículum presentaba una interpretación restringida de la historia a través del lente teórico del marxismo-leninismo. Materias como “Staatsbürgerkunde”, literalmente “currículum ciudadano”, tenían como fin implantar el dogma comunista en los cerebros de los estudiantes. Viéndolo desde el exterior, Alemania Oriental debió de haberse visto como la realización de la visión de George Orwell en 1984.
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    20 años de la caída del Muro de Berlín
    (2010-01-01) Leiteritz, Ralf Juan
    Hace veinte años era un adolescente en último año de bachillerato en Leipzig, la segunda ciudad más grande de Alemania Oriental, a unos 150 kilómetros al sur de Berlín. Pasé mi niñez y cursé mi educación preuniversitaria en la República Democrática Alemana; en otras palabras, detrás de la llamada “Cortina de Hierro”. Mi educación estuvo dominada por la ideología socialista y fuertemente controlada por el Partido Comunista. El currículum presentaba una interpretación restringida de la historia a través del lente teórico del marxismo-leninismo. Materias como “Staatsbürgerkunde”, literalmente “currículum ciudadano”, tenían como fin implantar el dogma comunista en los cerebros de los estudiantes. Viéndolo desde el exterior, Alemania Oriental debió de haberse visto como la realización de la visión de George Orwell en 1984.
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    20. Opinión pública y proceso de paz en Colombia en 2014
    (2016) Charry Joya, Carlos Andrés
    Este artículo presenta los principales eventos sobre el proceso de paz entre el gobierno colombiano y la guerrilla de las FARC durante 2014. Esta presentación se hizo dando una especial atención de las diferentes formas de difusión e interpretación del proceso expuesto por los medios de comunicación. En este trabajo se analizan los medios de comunicación como un actor esencial del proceso de construcción de la opinión pública; por esa razón, su punto de vista es una clave para entender los diálogos de paz, así como el desarrollo del conflicto armado en Colombia.
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    22q11.2 DS syndrome as a genetic subtype of schizophrenia
    (2015) Huertas-Rodríguez, Cindy Katherin; Payan-Gomez, Cesar; Forero-Castro, Ruth Maribel
    Introduction The 22q11.2 deletion syndrome (22q11.2 DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2 DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. Objective To describe the generalities of 22q11.2 DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. Methods A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2 DS syndrome and its association with schizophrenia. Results The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. Conclusions It is important in clinical practice to remember that people suffering the 22q11.2 DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2 DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring. © 2014 Asociación Colombiana de Psiquiatría.
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    273 ANTIEPILEPTIC DRUGS IN PAIN CAUSED BY DIABETIC NEUROPATHY
    (2007-06) Gutierrez?Alvarez, A.M.; Beltran?Rodriguez, J.A.; Moreno, C.B.
    Pain is frequent in diabetic neuropathy and is hard tomanage. Antiepileptic drugs have been used in treatingpain for several decades now. Nevertheless, their e?ec-tiveness when used as analgesics in painful diabetic neu-ropathy still remains controversial. We conducted ameta-analysis for determining which antiepileptic drughad the best analgesic potential for managing pain inpatients su?ering from painful diabetic neuropathy. Thesearch covered the Cochrane, MEDLINE, EMBASEand LILAC S databases, between January 1966 and Sep-tember 2005.
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    344 Point of Care Ultrasonography Training in Bogotá Emergency Medicine Residencies: The Unmet Need
    (2012-10) Henwood, P.C.; Norwood, B.R.; Genthon, A.A.; Silva, D.; Martinez, Y.B.; Granada, J.; Torres, J.; Romero, M.G.; Arbelaez, C.
    Background: As ultrasonography equipment has evolved toward increased portability, higher quality and lower cost, the field of point-of-care ultrasonography has grown, with numerous applications for emergency medicine practitioners. Competence in goal-directed ultrasonography image acquisition and interpretation is now a mandatory part of emergency medicine residency training in the United States and the United Kingdom. Appropriate training is a key component to the safe and effective use of this technology. In Colombia, emergency medicine is a relatively new specialty and leaders in the field have expressed interest in further integrating pointof-care ultrasonography into emergency medicine practice and resident training. Study Objectives: The objective of this study was to conduct a needs assessment to better understand the current state of point-of-care ultrasonography practice among all emergency medicine residency programs in Bogotá, Colombia. Methods: An ultrasonography needs assessment survey tool was distributed to all available residents of the 3 emergency medicine residency programs in Bogotá. The emergency medicine program directors, other physicians staffing the emergency departments, and several medical students rotating in the emergency departments were also surveyed. The needs assessment survey tool assessed the population’s experience with point-of-care ultrasonography, formal ultrasonography education, and interest in educational initiatives. Focus group sessions with 50% of emergency medicine residents in Bogotá were subsequently conducted to further qualify their perspective on the current state of diagnostic ultrasonography at each residency training site as it relates to their clinical and procedural practice. Partners Health care institutional review board exemption was obtained for this research. Results: Fifty four total clinicians (43 emergency physicians, 5 non-emergency physicians and 6 medical students) completed the survey. Twenty-nine participants (54%) had previously used an ultrasonography machine. Of all emergency medicine respondents, 24 had used ultrasonography, and trauma was the most common application. However, 52% of those who had used ultrasonography had performed less than 10 independent scans. Thirty-nine participants (72%) had received no formal ultrasonography training. Of respondents, 94% total (100% of emergency physicians) reported a high level of interest in learning point-of-care ultrasonography, particularly trauma and vascular access applications. The major barriers identified by those surveyed were the absence of teachers (83%), the absence of ultrasonography equipment (65%), and time limitations (39%). Focus group discussions revealed that the scope of clinical practice, especially regarding procedures performed by emergency physicians, varied between emergency departments and residencies, but all reported they wanted more training in the use of point-of-care ultrasonography to improve their practice and patient care. Conclusion: Emergency ultrasonography training and use in clinical practice among emergency medicine residencies in Bogotá is currently limited by the lack of ultrasonography equipment and educators. However, there is significant interest in educational initiatives among all residents and program directors. Further research into how to best integrate point-of-care ultrasonography into emergency medicine practice and resident training in Colombia is needed.
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    3D Analysis of the TCR/pMHCII Complex Formation in Monkeys Vaccinated with the First Peptide Inducing Sterilizing Immunity against Human Malaria
    (2010) Patarroyo, Manuel A.; Bermudez, Adriana; López, Carolina; Yepes, Gloria; Patarroyo, Manuel E.
    T-cell receptor gene rearrangements were studied in Aotus monkeys developing high antibody titers and sterilizing immunity against the Plasmodium falciparum malaria parasite upon vaccination with the modified synthetic peptide 24112, which was identified in the Merozoite Surface Protein 2 (MSP-2) and is known to bind to HLA-DR beta 1*0403 molecules with high capacity. Spectratyping analysis showed a preferential usage of V beta 12 and V beta 6 TCR gene families in 67% of HLA-DR beta 1*0403-like genotyped monkeys. Docking of peptide 24112 into the HLA-DR beta 1*0401-HA peptide-HA1.7TCR complex containing the VDJ rearrangements identified in fully protected monkeys showed a different structural signature compared to nonprotected monkeys. These striking results show the exquisite specificity of the TCR/pMHCII complex formation needed for inducing sterilizing immunity and provide important hints for a logical and rational methodology to develop multiepitopic, minimal subunit-based synthetic vaccines against infectious diseases, among them malaria.
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    3D structure and immunogenicity of Plasmodium falciparum sporozoite induced associated protein peptides as components of fully-protective anti-malarial vaccine
    (2011) Alba M.P.; Almonacid H.; Calderón D.; Chacón E.A.; Poloche L.A.; Patarroyo M.A.; Patarroyo M.E.
    SIAP-1 and SIAP-2 are proteins which are implicated in early events involving Plasmodium falciparum infection of the Anopheles mosquito vector and the human host. High affinity HeLa and HepG2 cell binding conserved peptides have been previously identified in these proteins, i.e. SIAP-1 34893 ( 421KVQGLSYLLRRKNGTKHPVY 440) and SIAP-1 34899 ( 541YVLNSKLLNSRSFDKFKWIQ 560) and SIAP-2 36879 ( 181LLLYSTNSEDNLDISFGELQ 200). When amino acid sequences have been properly modified (replacements shown in bold) they have induced high antibody titres against sporozoites in Aotus monkeys (assessed by IFA) and in the corresponding recombinant proteins (determined by ELISA and Western blot). 1H NMR studies of these conserved native and modified high activity binding peptides (HABPs) revealed that all had ?-helical structures in different locations and lengths. Conserved and corresponding modified HABPs displayed different lengths between the residues fitting into MHCII molecule pockets 1-9 and different amino acid orientation based on their different HLA-DR?1 * binding motifs and binding registers, suggesting that such modifications were associated with making them immunogenic. The results suggested that these modified HAPBs could be potential targets for inclusion as components of a fully-effective, minimal sub-unit based, multi-epitope, and multistage anti-malarial vaccine. © 2011 Elsevier Inc..
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    3D structure determination of STARP peptides implicated in P. falciparum invasion of hepatic cells
    (2010) Bermudez, Adriana; Alba, Martha Patricia; Vanegas, Magnolia; Patarroyo, Manuel Elkin
    To block the different stages of Plasmodium falciparum invasion into human hepatocytes and red blood cells, we have focused on those proteins belonging to the pre-erythrocytic stage. One of these proteins is Sporozoite Threonine and Asparagine Rich Protein (STARP), which is a ligand used by P. falciparum parasites to bind Hepatic cells (HepG2). Previous studies on this protein identified two conserved peptides binding with high activity to HepG2 cells (namely 20546 and 20570) with corresponding critical hepatic-cell binding residues and determined an important role for these two peptides in the invasion process. This study shows the results of immunization trials in Aotus monkeys with native STARP peptides and analogues modified in critical hepatic-cell binding residues. The results show that native peptides are not immunogenic but can induce high-antibody titers when their critical residues are replaced by other with similar volume and mass but different polarity. Nuclear Magnetic Resonance (1H NMR) studies revealed that native peptides (non-immunogenic) displayed shorter ?-helical regions compared to their highly immunogenic modified analogues. Binding assays with HLA-DR?1* molecules showed that 20546 modified peptides inducing high-antibody titers (24972, 24320 and 24486) bound to HLA-DR?1*0301 molecules, while the 20570 modified analogue (24322) bound to HLA-DR?1*0101. The results support including these high-immunogenic STARP-derived modified peptides as pre-erythrocytic candidates to be included in the design of a synthetic antimalarial vaccine. © 2010 Elsevier Ltd.
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    433 Palynostratigraphy of the eocene esmeraldas formation, middle Magdalena Valley Basin, Colombia
    (2012) Rodriguez, Guillermo; Oboh-Ikuenobe, Francisca; Jaramillo, Carlos; Rueda, Milton; Cadena, Edwin Alberto
    The Eocene EsmeraldasFormation isa very importantoil reservoir intheMiddle Magdalena ValleyBasin, Colombia, which is a preduct of the fragmentatienof a Cenozoic forelandbasinby the uplift of the Northem Andes. Ihe lateralcentinuity of the formation,as well as its correlations with lithostratigraphic units inadjacent basins isnot clearly understood. The Los CorrosFossilHorizon,a molluscan horizonin the upper partof the Esmeraldas Formation,has been used to tracethe top of the formation, Thishorizonisnot laterallycontinuous over thebasinand its age is still debatable. Some of the key palynostratigraphic events inNorthernSouth America are net present inthepalynological record of the Esmeraldas, Palynologicaldata from 82 samples from an eutcrop section intheNuevo Mundo Synclinearea and from seven previouslystudied wells have been integratedwith a palynologicalzonation of nonhem South America inorder to datctheEsrneraldasForrnation.The age ranges from the lateEarly Eocene to the Late Eocene. The Esmeraldas Forrnationiscorrelative withthe upper Picacho ForTnation and the lowerpartof the ConcentracionForrnationin the EasternCoTdillera, and theupper Mirador Forrnationand thebaseof theCarboneraFormationintheLlanosFeothills. [[heLos Corros FossilHorizon is Late Eocene and is time-correlative with a marine transgression inthe central Llanos Foothills,A non-menic multidimensional scaling analysis suggests that florasfrom the Middle Magdalena Valleywere differentfromthe Llanos Foothillsarea during the Middle to Late Eocene. This is apparently due to taphonomic effects. The results efthis study conuibute to a betterunderstanding of theoverall evolution ef the Middle Magdalena ValleyBasin and the evolution of thenonhem Andes.
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    5-alpha-reductase inhibitors for lower urinary tract symptoms secondary to benign prostatic obstruction
    (2015) García?Perdomo, Herney A; Lopez, Hugo E; Tacklind, James
    This is the protocol for a review and there is no abstract. The objectives are as follows: To assess the effects of 5-alpha-reductase inhibitors (5ARIs) for treating lower urinary tract symptoms (LUTS) secondary to benign prostatic obstruction (BPO). © 2015 The Cochrane Collaboration.
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    50 Jahre FARC: Geschichtsbild und Selbstverständnis der ältesten Guerilla Lateinamerikas
    (2015) Schuster, Sven Benjamín
    Im Mai 1964 erstürmte die kolumbianische Armee im Rahmen des sogenannten Plan LASO (Latin American Security Operation) die von Kommunisten gegründete Agrarkolonie Marquetalia im Süden Kolumbiens. Die sich über mehrere Monate erstreckende Militäroperation gegen die zwischen den Departements Huila und Tolima gelegene Enklave wurde von den USA logistisch unterstützt, wobei Tausende Soldaten, Hubschrauber sowie mit Brandbomben bestückte Kampfflugzeuge zum Einsatz kamen. Für die US-Regierung unter Präsident Lyndon B. Johnson war es im Kontext der bereits von Kennedy initiierten Alliance for Progress von größter Bedeutung, ein „zweites Kuba“ in Südamerika zu verhindern. Neben materiellen Hilfsleistungen und Kooperationen in den Bereichen der medizinischen Versorgung, dem Wohnungsbau und dem Bildungswesen war der Aspekt der counterinsurgency ein Kernstück des dezidiert antikommunistischen Programms.1 Trotz des massiven Aufgebots war der Militärschlag jedoch ein Misserfolg. So gelang den in Marquetalia ansässigen 48 kommunistischen Guerilleros sowie den in ihrem Einflussbereich lebenden Campesinos größtenteils die Flucht. Am Ende hatten die Guerilleros lediglich drei Tote zu beklagen, während sich die Zahl gefallener Soldaten auf über 300 belief.
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    52 Genetic Loci Influencing Myocardial Mass
    (2016) van der Harst, Pim; van Setten, Jessica; Verweij, Niek; Vogler, Georg; Franke, Lude; Maurano, Matthew T.; Wang, Xinchen; Leach, Irene Mateo; Eijgelsheim, Mark; Sotoodehnia, Nona; Hayward, Caroline; Sorice, Rossella; Meirelles, Osorio; Lyytikäinen, Leo-Pekka; Polašek, Ozren; Tanaka, Toshiko; Arking, Dan E.; Ulivi, Sheila; Trompet, Stella; Müller-Nurasyid, Martina; Smith, Albert V.; Dörr, Marcus; Kerr, Kathleen F.; Magnani, Jared W.; Del Greco M., Fabiola; Zhang, Weihua; Nolte, Ilja M.; Silva, Claudia T.; Padmanabhan, Sandosh; Tragante, Vinicius; Esko, Tõnu; Abecasis, Gonçalo R.; Adriaens, Michiel E.; Andersen, Karl; Barnett, Phil; Bis, Joshua C.; Bodmer, Rolf; Buckley, Brendan M.; Campbell, Harry; Cannon, Megan V.; Chakravarti, Aravinda; Chen, Lin Y.; Delitala, Alessandro; Devereux, Richard B.; Doevendans, Pieter A.; Dominiczak, Anna F.; Ferrucci, Luigi; Ford, Ian; Gieger, Christian; Harris, Tamara B.; Haugen, Eric; Heinig, Matthias; Hernandez, Dena G.; Hillege, Hans L.; Hirschhorn, Joel N.; Hofman, Albert; Hubner, Norbert; Hwang, Shih-Jen; Iorio, Annamaria; Kähönen, Mika; Kellis, Manolis; Kolcic, Ivana; Kooner, Ishminder K.; Kooner, Jaspal S.; Kors, Jan A.; Lakatta, Edward G.; Lage, Kasper; Launer, Lenore J.; Levy, Daniel; Lundby, Alicia; Macfarlane, Peter W.; May, Dalit; Meitinger, Thomas; Metspalu, Andres; Nappo, Stefania; Naitza, Silvia; Neph, Shane; Nord, Alex S.; Nutile, Teresa; Okin, Peter M.; Olsen, Jesper V.; Oostra, Ben A.; Penninger, Josef M.; Pennacchio, Len A.; Pers, Tune H.; Perz, Siegfried; Peters, Annette; Pinto, Yigal M.; Pfeufer, Arne; Pilia, Maria Grazia; Pramstaller, Peter P.; Prins, Bram P.; Raitakari, Olli T.; Raychaudhuri, Soumya; Rice, Ken M.; Rossin, Elizabeth J.; Rotter, Jerome I.; Schafer, Sebastian; Schlessinger, David; Schmidt, Carsten O.; Sehmi, Jobanpreet; Silljé, Herman H.W.; Sinagra, Gianfranco; Sinner, Moritz F.; Slowikowski, Kamil; Soliman, Elsayed Z.; Spector, Timothy D.; Spiering, Wilko; Stamatoyannopoulos, John A.; Stolk, Ronald P.; Strauch, Konstantin; Tan, Sian-Tsung; Tarasov, Kirill V.; Trinh, Bosco; Uitterlinden, Andre G.; van den Boogaard, Malou; van Duijn, Cornelia M.; van Gilst, Wiek H.; Viikari, Jorma S.; Visscher, Peter M.; Vitart, Veronique; Völker, Uwe; Waldenberger, Melanie; Weichenberger, Christian X.; Westra, Harm-Jan; Wijmenga, Cisca; Wolffenbuttel, Bruce H.; Yang, Jian; Bezzina, Connie R.; Munroe, Patricia B.; Snieder, Harold; Wright, Alan F.; Rudan, Igor; Boyer, Laurie A.; Asselbergs, Folkert W.; van Veldhuisen, Dirk J.; Stricker, Bruno H.; Psaty, Bruce M.; Ciullo, Marina; Sanna, Serena; Lehtimäki, Terho; Wilson, James F.; Bandinelli, Stefania; Alonso, Alvaro; Gasparini, Paolo; Jukema, J. Wouter; Kääb, Stefan; Gudnason, Vilmundur; Felix, Stephan B.; Heckbert, Susan R.; de Boer, Rudolf A.; Newton-Cheh, Christopher; Hicks, Andrew A.; Chambers, John C.; Jamshidi, Yalda; Visel, Axel; Christoffels, Vincent M.; Isaacs, Aaron; Samani, Nilesh J.; de Bakker, Paul I.W.
    Background Myocardial mass is a key determinant of cardiac muscle function and hypertrophy. Myocardial depolarization leading to cardiac muscle contraction is reflected by the amplitude and duration of the QRS complex on the electrocardiogram (ECG). Abnormal QRS amplitude or duration reflect changes in myocardial mass and conduction, and are associated with increased risk of heart failure and death. Objectives This meta-analysis sought to gain insights into the genetic determinants of myocardial mass. Methods We carried out a genome-wide association meta-analysis of 4 QRS traits in up to 73,518 individuals of European ancestry, followed by extensive biological and functional assessment. Results We identified 52 genomic loci, of which 32 are novel, that are reliably associated with 1 or more QRS phenotypes at p  and lt; 1 × 10?8. These loci are enriched in regions of open chromatin, histone modifications, and transcription factor binding, suggesting that they represent regions of the genome that are actively transcribed in the human heart. Pathway analyses provided evidence that these loci play a role in cardiac hypertrophy. We further highlighted 67 candidate genes at the identified loci that are preferentially expressed in cardiac tissue and associated with cardiac abnormalities in Drosophila melanogaster and Mus musculus. We validated the regulatory function of a novel variant in the SCN5A/SCN10A locus in vitro and in vivo. Conclusions Taken together, our findings provide new insights into genes and biological pathways controlling myocardial mass and may help identify novel therapeutic targets. © 2016 American College of Cardiology Foundation
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    5azadC treatment upregulates miR-375 level and represses HPV16 E6 expression
    (2017-05-02) Morel, Adrien; Baguet, Aurélie; Perrard, Jérôme; Demeret, Caroline; Jacquin, Elise; Guenat, David; Mougin, Christiane; Prétet, Jean-Luc
    High-risk human papillomaviruses are the etiological agents of cervical cancer and HPV16 is the most oncogenic genotype. Immortalization and transformation of infected cells requires the overexpression of the two viral oncoproteins E6 and E7 following HPV DNA integration into the host cell genome. Integration often leads to the loss of the E2 open reading frame and the corresponding protein can no longer act as a transcriptional repressor on p97 promoter. Recently, it has been proposed that long control region methylation also contributes to the regulation of E6/E7 expression. To determine which epigenetic mechanism is involved in HPV16 early gene regulation, 5-aza-2?-deoxycytidine was used to demethylate Ca Ski and SiHa cell DNA. Decreased expression of E6 mRNA and protein levels was observed in both cell lines in an E2-independent manner. E6 repression was accompanied by neither a modification of the main cellular transcription factor expression involved in long control region regulation, nor by a modification of the E6 mRNA splicing pattern. In contrast, a pronounced upregulation of miR-375, known to destabilize HPV16 early viral mRNA, was observed. Finally, the use of miR-375 inhibitor definitively proved the involvement of miR-375 in E6 repression. These results highlight that cellular DNA methylation modulates HPV16 early gene expression and support a role for epigenetic events in high-risk HPV associated-carcinogenesis.
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    70º Aniversario de la declaración universal de derechos humanos. La protección internacional de los Derechos Humanos en cuestión
    (2018) Olasolo Alonso, Héctor; Proner, Carol; Villa Durán, Carlos; Ricobom, Gisele; Back, Charlotth; Añon Roig, María José; Cañizares Laso, Ana; Cerdio Herrán, Jorge; Cossío Díaz, José Ramón; Ferrer Mac-Gregor Poisot, Eduardo; Fiss, Owen; García-Cruces González, José Antonio; López Guerra, Luis; López y López, Ángel M.; Lorente Sariñena, Marta; De Lucas Martín, Javier; Moreno Catena, Victor; Muñoz-Conde, Francisco; Nussberger, Angelika; Parejo Alfonso, Luciano; Sala Franco, Tomás; Sancho Gargallo, Ignacio; Vives Antón, Tomás S.; Zimmerling, Ruth; Higalgo Tuñan, Alberto; Vicente, Alejandra; Teitelman, Alejandro; Bernardino Costa, Alexandre; De Zayas, Alfred; Móseres Fernández, Andrea; Delgado Baena, Antonio; Graciano Suxberger, Antonio Henrique; Varón Mejía, Antonio; Garrido Muñoz, Asier; Londoño-Toro, Beatriz; Sena Martins, Bruno; Zamora Valadez, Carlos; Faleh Pérez, Carmelo; Quesada Alcalá, Carmen; Back, Charlotth; Malinverni, Clóvis; Suárez Vargas, Daniela; Sánchez Rubio, David; Bacha e Silva, Diogo; López, Edgar Antonio; Tomé da Mata, Edileny; Val, Eduardo Manuel; Dupas, Eliane; Prieto Ríos, Enrique Alberto; Buitrago, Esperanza; Bechara, Fabio Ramazzini; Gómez-Isa, Felipe; Ferreira Pradal, Fernanda; DANTAS, FERNANDA LAGE ALVES; Infante Ruiz, Francisco José; Maffioletti Celedón, Francisco; Cittadino, Gisele; Ricobom, Gisele; Da Silva, Jan Carlos; De Luca, Javier Augusto; Roldán Barbero, Javier; Delgado Baena, Jesús; Sabarriego, Jesús; Allain Teixeira, Joao Paulo; Wanderley, Joao Ricardo; Wanderley Dornelles, Joao Ricardo; Ramirez Mendoza, Joel M F; Bonet Pérez, Jordi; Calderón Gamboa, Jorge; Musso, José Antonio; Moreira da Silva Filho, José Carlos; Sánchez Patrón, José Manuel; Marín Aís, José Rafael; Ribas Vieira, José; De Faramiñán, Gilbert; Martínez-Vargas, Juan Ramón; Neuenshhwander, Juliana; RAMINA, LARISSA; García Matamoros, Juana Laura Victoria; Teixeira Torraca, Lia Beatríz; González Pinto, Lorena; Carcano, Lucía; Monfort, Luis Acebal; Restrepo Medina, Manuel Alberto; Gándara Carballido, Manuel Eugenio; Fernández-García, Manuel; Giraldes, Marcus; Lacombe Camargo, Margarida María; Prada-Uribe, Maria Angelica; Fariñas Dulce, María José; Alves de Carvalho e Silva, Marília; Faraco e Felipe Daier, Marina; Ureña, Mario; Cardona-Vallès, Mariona; Fernández, Martha; Rocha Herrera, Mónica; Buitrago Rey, Nicolás Eduardo; Cámeron Nuñez, Noelia; Cordero Ramos, Nuria; Herrera Carbuccia, Olga; Abräo, Paulo; Silveira Mello, Pruedente José; Rockenbach Da Silva, Ramiro; Barreto Preturlan, Renata; Abello Galvis, Ricardo; Nunes de Mendoca, Ricardo; Lentz, Ricardo; Rockenbach Manente, Ruben; Cuenca Curbelo, Salvador; Gamboa-Rubiano, Sandra; Preller Bórquez, Sebastián; Graziano, Sergio; Guerra, Sidney; Steiner, Sylvia; Ushakova, Tatsiana; Scheila Friedrich, Tatyana; Resende Botelho, Tiago; Bonilla Tovar, Vanesa; Barragán Robles, Vicente; Krsticevic, Viviana; Tirant lo Blanch
    Segundo volúmen de la Colección Perspectivas Iberoamericanas sobre la justicia. La Declaración Universal de los Derechos Humanos de las Naciones Unidas cumple, el 10 de diciembre de 2018, setenta años. La simbólica fecha obliga a los investigadores en derechos humanos a reflexionar críticamente sobre los avances y límites de un complejo sistema de normas y, sobre todo, de valores culturales sustentados en la matriz liberal occidental. Desde entonces, ha habido indiscutibles avances institucionales y normativos, como la creación del Consejo de Derechos Humanos, varios pactos y declaraciones complementarias, órganos específicos, tribunales internacionales, jurisprudencia, constituciones estatales, una infinidad de instituciones basadas en esta “ética mínima universal” que, contradictoriamente, no logró evitar un conjunto de catástrofes humanitarias y de vulneración de derechos. La primera década del siglo XX trae un reflejo limitante al consenso de la posguerra, pues la agresividad de los Estados hegemónicos, en alianza con intereses privados transnacionales, pone en jaque la capacidad del sistema protector frente a guerras humanitarias e internacionales. tratados económicos de nueva generación aquellos que excluyen por completo a la democracia del proceso de negociación.
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    Acceso Abierto
    El 9 de abril en Cali: cambio social, poder y liminalidad en el Valle del Cauca
    (2006) Charry Joya, Carlos Andrés
    A partir de los principios de la sociología procesual de Norbert Elias sobre las relaciones entre grupos sociales establecidos y marginados, y de los referentes analíticos expuestos por Victor Turner acerca de los estados liminales, se analizan en este artículo las implicaciones de los sucesos del 9 de Abril en Cali y el Valle del Cauca. En este sentido, se busca identificar las formas de configuración social de poder a nivel regional y el impacto que tuvo este acontecimiento histórico en tal proceso, donde se destaca una ampliación y mayor posicionamiento de los grupos sociales marginados en el campo social, a consecuencia de las transformaciones sociopolíticas acaecidas en la década de 1930 y, en especial, en la segunda mitad de la década de 1940, por la incidencia del gaitanismo y la denominada resistencia civil. Con el asesinato de Jorge Eliécer Gaitán se aprecia un cambio considerable en los equilibrios de poder entre sectores sociales, que contraviene la tendencia antes reseñada. Se considera que los elementos de constitución del campo simbólico son indispensables para la comprensión del proceso de cambio, así como de las formas sociales de estructuración del poder.
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    Solo Metadatos
    99 mTc-mebrofenin hepatobiliary scintigraphy in a patient with a bilio-pleural-bronchial fistula
    (2017) Arevalo-Leal, S.
    This is a 37 year old patient with a history of cryptogenic cirrhosis on liver transplant waiting list