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https://www.readbyqxmd.com/read/29902694/challenges-of-evaluating-chronic-heart-failure-and-acute-heart-failure-events-in-research-studies-using-large-health-care-databases
#1
REVIEW
Miguel Cainzos-Achirica, Cristina Rebordosa, Emili Vela, Montse Cleries, Kunihiro Matsushita, Estel Plana, Elena Rivero-Ferrer, Cristina Enjuanes, Santiago Jimenez-Marrero, Luis Alberto Garcia-Rodriguez, Josep Comin-Colet, Susana Perez-Gutthann
Epidemiological studies on heart failure (HF) using large health care databases are becoming increasingly frequent, as they represent an invaluable opportunity to characterize the importance and risk factors of HF from a population perspective. Nevertheless, because of its complex diagnosis and natural history, the heterogeneous use of the relevant terminology in routine clinical practice, and the limitations of some disease coding systems, HF can be a challenging condition to assess using large health care databases as the main source of information...
May 21, 2018: American Heart Journal
https://www.readbyqxmd.com/read/29881993/primary-intracranial-spindle-cell-sarcoma-with-rhabdomyosarcoma-like-features-share-a-highly-distinct-methylation-profile-and-dicer1-mutations
#2
Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M Tirado, Jaume Mora, Javier Alonso, Xavier Garcia Del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T W Jones, Andreas von Deimling
Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%)...
June 7, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29880608/in-vitro-and-in-vivo-activity-of-a-new-small-molecule-inhibitor-of-hdac6-in-mantle-cell-lymphoma
#3
Montserrat Perez-Salvia, Eneko Aldaba, Yosu Vara, Myriam Fabre, Cristina Ferrer, Carme Masdeu, Aizpea Zubia, Eider San Sebastian, Dorleta Otaegui, Pere Llinàs-Arias, Margalida Rosselló-Tortella, Maria Berdasco, Catia Moutinho, Fernando Setien, Alberto Villanueva, Eva González-Barca, Josep Muncunill, José-Tomás Navarro, Miguel A Piris, Fernando P Cossio, Manel Esteller
No abstract text is available yet for this article.
June 7, 2018: Haematologica
https://www.readbyqxmd.com/read/29794511/value-of-free-text-comments-for-validating-cancer-cases-using-primary-care-data-in-the-uk
#4
Andrea V Margulis, Joan Fortuny, James A Kaye, Brian Calingaert, Maria Reynolds, Estel Plana, Lisa J McQuay, Willem Jan Atsma, Billy Franks, Stefan de Vogel, Susana Perez-Gutthann, Alejandro Arana
No abstract text is available yet for this article.
May 22, 2018: Epidemiology
https://www.readbyqxmd.com/read/29793545/white-matter-microstructure-is-altered-in-cognitively-normal-middle-aged-apoe-%C3%AE%C2%B54-homozygotes
#5
Grégory Operto, Raffaele Cacciaglia, Oriol Grau-Rivera, Carles Falcon, Anna Brugulat-Serrat, Pablo Ródenas, Rubén Ramos, Sebastián Morán, Manel Esteller, Nuria Bargalló, José Luis Molinuevo, Juan Domingo Gispert
BACKGROUND: The ε4 allele of the apolipoprotein E gene (APOE-ε4) is the strongest genetic factor for late-onset Alzheimer's disease. During middle age, cognitively healthy APOE-ε4 carriers already show several brain alterations that resemble those of Alzheimer's disease (AD), but to a subtler degree. These include microstructural white matter (WM) changes that have been proposed as one of the earliest structural events in the AD cascade. However, previous studies have focused mainly on comparison of APOE-ε4 carriers vs noncarriers...
May 24, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29764291/a-12-year-retrospective-review-of-bullous-systemic-lupus-erythematosus-in-cutaneous-and-systemic-lupus-erythematosus-patients
#6
G J Pons-Estel, R Quintana, G S Alarcón, M Sacnún, M F Ugarte-Gil, B A Pons-Estel
No abstract text is available yet for this article.
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29742424/inhibition-of-gsk3b-reduces-nfkb1-signaling-and-rescues-synaptic-activity-to-improve-the-rett-syndrome-phenotype-in-mecp2-knockout-mice
#7
Olga C Jorge-Torres, Karolina Szczesna, Laura Roa, Carme Casal, Louisa Gonzalez-Somermeyer, Marta Soler, Cecilia D Velasco, Pablo Martínez-San Segundo, Paolo Petazzi, Mauricio A Sáez, Raúl Delgado-Morales, Stephane Fourcade, Aurora Pujol, Dori Huertas, Artur Llobet, Sonia Guil, Manel Esteller
Rett syndrome (RTT) is the second leading cause of mental impairment in girls and is currently untreatable. RTT is caused, in more than 95% of cases, by loss-of-function mutations in the methyl CpG-binding protein 2 gene (MeCP2). We propose here a molecular target involved in RTT: the glycogen synthase kinase-3b (Gsk3b) pathway. Gsk3b activity is deregulated in Mecp2-knockout (KO) mice models, and SB216763, a specific inhibitor, is able to alleviate the clinical symptoms with consequences at the molecular and cellular levels...
May 8, 2018: Cell Reports
https://www.readbyqxmd.com/read/29740896/gold-assessment-of-copd-severity-in-the-clinical-practice-research-datalink-cprd
#8
Cristina Rebordosa, Estel Plana, Jaume Aguado, Steven Thomas, Esther García-Gil, Susana Perez-Gutthann, Jordi Castellsague
PURPOSE: To evaluate availability of spirometry and symptom data in the Clinical Practice Research Datalink (United Kingdom) to assess COPD severity using the Global Initiative for Chronic Obstructive Lung Disease (GOLD) 2016 definition and comparing it with an algorithm used in other studies. METHODS: This was a descriptive, noninterventional, secondary database cohort study of patients with COPD aged 40 years or older, who initiated treatment with specific COPD medications...
May 8, 2018: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/29736028/pm20d1-is-a-quantitative-trait-locus-associated-with-alzheimer-s-disease
#9
Jose V Sanchez-Mut, Holger Heyn, Bianca A Silva, Lucie Dixsaut, Paula Garcia-Esparcia, Enrique Vidal, Sergi Sayols, Liliane Glauser, Ana Monteagudo-Sánchez, Jordi Perez-Tur, Isidre Ferrer, David Monk, Bernard Schneider, Manel Esteller, Johannes Gräff
The chances to develop Alzheimer's disease (AD) result from a combination of genetic and non-genetic risk factors 1 , the latter likely being mediated by epigenetic mechanisms 2 . In the past, genome-wide association studies (GWAS) have identified an important number of risk loci associated with AD pathology 3 , but a causal relationship remains difficult to establish. In contrast, locus-specific or epigenome-wide association studies (EWAS) have revealed site-specific epigenetic alterations, which provide mechanistic insights for a particular risk gene but often lack the statistical power of GWAS 4 ...
May 7, 2018: Nature Medicine
https://www.readbyqxmd.com/read/29730775/dna-methylation-based-reclassification-of-olfactory-neuroblastoma
#10
David Capper, Nils W Engel, Damian Stichel, Matt Lechner, Stefanie Glöss, Simone Schmid, Christian Koelsche, Daniel Schrimpf, Judith Niesen, Annika K Wefers, David T W Jones, Martin Sill, Oliver Weigert, Keith L Ligon, Adriana Olar, Arend Koch, Martin Forster, Sebastian Moran, Oscar M Tirado, Miguel Sáinz-Japeado, Jaume Mora, Manel Esteller, Javier Alonso, Xavier Garcia Del Muro, Werner Paulus, Jörg Felsberg, Guido Reifenberger, Markus Glatzel, Stephan Frank, Camelia M Monoranu, Valerie J Lund, Andreas von Deimling, Stefan Pfister, Rolf Buslei, Julika Ribbat-Idel, Sven Perner, Volker Gudziol, Matthias Meinhardt, Ulrich Schüller
Olfactory neuroblastoma/esthesioneuroblastoma (ONB) is an uncommon neuroectodermal neoplasm thought to arise from the olfactory epithelium. Little is known about its molecular pathogenesis. For this study, a retrospective cohort of n = 66 tumor samples with the institutional diagnosis of ONB was analyzed by immunohistochemistry, genome-wide DNA methylation profiling, copy number analysis, and in a subset, next-generation panel sequencing of 560 tumor-associated genes. DNA methylation profiles were compared to those of relevant differential diagnoses of ONB...
May 5, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29717273/identification-of-an-episignature-of-human-colorectal-cancer-associated-with-obesity-by-genome-wide-dna-methylation-analysis
#11
Ana B Crujeiras, Sonsoles Morcillo, Angel Diaz-Lagares, Juan Sandoval, Daniel Castellano-Castillo, Esperanza Torres, David Hervas, Sebastian Moran, Manel Esteller, Manuel Macias-Gonzalez, Felipe F Casanueva, Francisco J Tinahones
BACKGROUND: Obesity was established as a relevant modifiable risk factor in the onset and progression of colorectal cancer (CRC). This relationship could be mediated by an epigenetic regulation. OBJECTIVES: The current work aimed to explore the effects of excess body weight on the DNA methylation profile of CRC using a genome-wide DNA methylation approach and to identify an epigenetic signature of obesity-related CRC. METHODS: Fifty-six CRC-diagnosed patients (50 years) were included in the study and categorized according to their body mass index (BMI) as non-obese (BMI ≤ 25 kg/m2 ) or overweight/obese (BMI > 25 kg/m2 )...
May 1, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29710847/groundwater-flow-processes-and-human-impact-along-the-arid-us-mexican-border-evidenced-by-environmental-tracers-the-case-of-tecate-baja-california
#12
Jürgen Mahlknecht, Luis Walter Daessle, Maria Vicenta Esteller, Juan Antonio Torres-Martinez, Abrahan Mora
With the increasing population, urbanization and industry in the arid area of Tecate, there is a concomitant increase in contaminants being introduced into the Tecate River and its aquifer. This contamination is damaging the usable groundwater supply and making local residents and commercial enterprises increasingly dependent on imported water from the Colorado River basin. In this study we apply a suite of chemical and isotopic tracers in order to evaluate groundwater flow and assess contamination trends. Groundwater recharge occurs through mountain-block and mountain-front recharge at higher elevations of the ranges...
April 30, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29696436/prevalence-of-cardiovascular-disease-and-major-risk-factors-in-patients-with-rheumatoid-arthritis-a-multinational-cross-sectional-study
#13
Dimitrios A Pappas, Fredrik Nyberg, Joel M Kremer, Kathy Lampl, George W Reed, Laura Horne, Meilien Ho, Alina Onofrei, Anand N Malaviya, Oscar L Rillo, Sebastiao C Radominski, Janos Gal, Allan Gibofsky, Tatiana V Popkova, Leda Laurindo, Eduardo M Kerzberg, Roman Zahora, Bernado A Pons-Estel, Jeffrey R Curtis, Daniel E Furst, Jeffrey D Greenberg
To compare the prevalence of cardiovascular disease (CVD) and major CVD risk factors among rheumatoid arthritis (RA) patients enrolled in a large US and multinational registry. We compared CVD and CVD risk factor prevalence from 11 countries enrolled in the CORRONA US and CORRONA International registries; patients from the 10 ex-US participating countries were grouped by region (Eastern Europe, Latin America, and India). Unadjusted summary data were presented for demographics and disease characteristics; comparisons for prevalence of CVD risk factors and CVD were age/gender standardized to the age/gender distribution of the US enrolled patients...
April 25, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29688621/an-epigenetic-signature-in-adipose-tissue-is-linked-to-nicotinamide-n-methyltransferase-gene-expression
#14
Ana B Crujeiras, Pavlos Pissios, Jose M Moreno-Navarrete, Angel Diaz-Lagares, Juan Sandoval, Antonio Gomez, Wilfredo Ricart, Manel Esteller, Felipe F Casanueva, Jose M Fernandez-Real
SCOPE: The enzyme nicotinamide N-methyltransferase (NNMT) is a major methyltransferase in adipose tissue. We hypothesized an epigenetic signature in association with NNMT gene expression in adipose tissue. METHODS AND RESULTS: The global human methylome was analyzed in visceral adipose tissue (VAT) from morbidly obese patients using the Infinium HumanMethylation450 BeadChip array (discovery cohort: n  =  11). The findings were confirmed in two additional independent cohorts (Cohort 1: n  =  60; BMI 20-60 kg/m2 and cohort 2: n  =  40; BMI >40 kg/m2 ) and validated after weight loss (using microarray data)...
April 24, 2018: Molecular Nutrition & Food Research
https://www.readbyqxmd.com/read/29686738/a-new-approach-to-epigenome-wide-discovery-of-non-invasive-methylation-biomarkers-for-colorectal-cancer-screening-in-circulating-cell-free-dna-using-pooled-samples
#15
María Gallardo-Gómez, Sebastian Moran, María Páez de la Cadena, Vicenta Soledad Martínez-Zorzano, Francisco Javier Rodríguez-Berrocal, Mar Rodríguez-Girondo, Manel Esteller, Joaquín Cubiella, Luis Bujanda, Antoni Castells, Francesc Balaguer, Rodrigo Jover, Loretta De Chiara
Background: Colorectal cancer is the fourth cause of cancer-related deaths worldwide, though detection at early stages associates with good prognosis. Thus, there is a clear demand for novel non-invasive tests for the early detection of colorectal cancer and premalignant advanced adenomas, to be used in population-wide screening programs. Aberrant DNA methylation detected in liquid biopsies, such as serum circulating cell-free DNA (cfDNA), is a promising source of non-invasive biomarkers...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29685978/interplay-between-long-non-coding-rnas-and-epigenetic-machinery-emerging-targets-in-cancer
#16
REVIEW
David J Hanly, Manel Esteller, María Berdasco
Of the diverse array of putative molecular and biological functions assigned to long non-coding RNAs (lncRNAs), one attractive perspective in epigenetic research has been the hypothesis that lncRNAs directly interact with the proteins involved in the modulation of chromatin conformation. Indeed, epigenetic modifiers are among the most frequent protein partners of lncRNAs that have been identified to date, of which histone methyltransferases and protein members of the Polycomb Repressive Complex PRC2 have received considerable attention...
June 5, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29675622/rheumatoid-arthritis-in-the-indigenous-qom-population-of-rosario-argentina-aggressive-and-disabling-disease-with-inadequate-adherence-to-treatment-in-a-community-based-cohort-study
#17
Rosana Quintana, Mario Goñi, Nora Mathern, Marisa Jorfen, Silvana Conti, Romina Nieto, Alvaro Sanabria, Cristina Prigione, Adriana M R Silvestre, Vanina García, Guillermo Pons-Estel, Ricard Cervera, Conrado García, Ingris Peláez-Ballestas, Graciela S Alarcón, Bernardo A Pons-Estel
To describe the baseline and follow up epidemiological/clinical characteristics of rheumatoid arthritis (RA) in a community-based cohort of the qom population. RA (ACR criteria) patients identified (n = 40) or not (n = 25) in the previous study were included. Baseline and follow-up visits (3, 6, and 12 months) were performed. Treatment adherence and modification, disability (Health Assessment Questionnaire Disability Index-HAQ-DI), and Disease Activity [DAS-28 (ESR)] were ascertained. At 12 months, complete and incomplete lost to follow-up patients were identified...
April 19, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29669399/the-impact-of-systemic-lupus-erythematosus-on-the-clinical-phenotype-of-antiphospholipid-antibody-positive-patients-results-from-antiphospholipid-syndrome-alliance-for-clinical-trials-and-international-networking-aps-action-clinical-database-and-repository
#18
Ozan Unlu, Doruk Erkan, Medha Barbhaiya, Danieli Andrade, Iana Nascimento, Renata Rosa, Alessandra Banzato, Vittorio Pengo, Amaia Ugarte, Maria Gerosa, Lanlan Ji, Maria Efthymiou, D Ware Branch, Guilherme Raires de Jesus, Angela Tincani, H Michael Belmont, Paul R Fortin, Michelle Petri, Esther Rodriguez, Guillermo J Pons-Estel, Jason S Knight, Tatsuya Atsumi, Rohan Willis, Stephane Zuily, Maria G Tektonidou
OBJECTIVE: Although systemic lupus erythematosus (SLE) is the most common autoimmune disease associated with antiphospholipid antibodies (aPL), limited data exist on the impact of SLE on the clinical phenotype of aPL-positive patients. The primary objective was to compare the clinical, laboratory, and treatment characteristics of aPL-positive patients with or without SLE. METHODS: A secure web-based data capture system stores patient demographics, and aPL-related clinical and laboratory characteristics...
April 18, 2018: Arthritis Care & Research
https://www.readbyqxmd.com/read/29666118/a-simplified-scoring-system-in-de-novo-follicular-lymphoma-treated-initially-with-immunochemotherapy
#19
Emmanuel Bachy, Matthew J Maurer, Thomas M Habermann, Bénédicte Gelas-Dore, Delphine Maucort-Boulch, Jane A Estell, Eric Van den Neste, Réda Bouabdallah, Emmanuel Gyan, Andrew L Feldman, Joan Bargay, Alain Delmer, Susan L Slager, Maria Gomes da Silva, Olivier Fitoussi, David Belada, Hervé Maisonneuve, Tanin Intragumtornchai, Stephen M Ansell, Thierry Lamy, Peggy Dartigues, Brian K Link, John F Seymour, James R Cerhan, Gilles Salles
In follicular lymphoma (FL), no prognostic index has been built based solely on a cohort of patients treated with initial immunochemotherapy. There is currently a need to define parsimonious clinical models for trial stratification and to add on biomolecular factors. Here, we confirmed the validity of both the FLIPI and the FLIPI2 in the large prospective PRIMA trial cohort of 1,135 patients treated with initial R-chemotherapy +/- R maintenance. Furthermore, we developed a new prognostic tool comprising only 2 simple parameters (bone marrow involvement and β2-microglobulin (β2m)) to predict progression-free survival (PFS)...
April 17, 2018: Blood
https://www.readbyqxmd.com/read/29656435/a-multi-omic-study-reveals-btg2-as-a-reliable-prognostic-marker-for-early-stage-non-small-cell-lung-cancer
#20
Sipeng Shen, Ruyang Zhang, Yichen Guo, Elizabeth Loehrer, Yongyue Wei, Ying Zhu, Qianyu Yuan, Sebastian Moran, Thomas Fleischer, Maria M Bjaanaes, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, Li Su, Feng Chen, David C Christiani
B-cell translocation gene 2 (BTG2) is a tumour suppressor protein known to be downregulated in several types of cancer. In this study, we investigated a potential role for BTG2 in early-stage non-small cell lung cancer (NSCLC) survival. We analysed BTG2 methylation data from 1230 early-stage NSCLC patients from five international cohorts, as well as gene expression data from 3038 lung cancer cases from multiple cohorts. Three CpG probes (cg01798157, cg06373167, cg23371584) that detected BTG2 hypermethylation in tumour tissues were associated with lower overall survival...
June 2018: Molecular Oncology
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