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J Trotman, J Trinh, Y L Kwan, J A Estell, J Fletcher, K Archer, K Lee, K Foo, J Curnow, A Bianchi, L Wignall, E Verner, R Gasiorowski, E Siedlecka, I Cunningham
BACKGROUND: Multidisciplinary Team (MDT) meetings aimed at facilitating peer review have become standard practice in oncology. However, there is scant literature on the optimal structure and conduct of such meetings. AIMS: We aimed to develop a process for formal peer review of patients with haematologic malignancies, and to audit any resulting changes made to the management recommendations of the treating physician. METHODS: A standard operating procedure (SOP) for MDT meetings was developed essentially to integrate clinical peer review with weekly pathology and radiology meetings...
October 18, 2016: Internal Medicine Journal
Raúl Alelú-Paz, Francisco J Carmona, José V Sanchez-Mut, Ariel Cariaga-Martínez, Ana González-Corpas, Nadia Ashour, Maria J Orea, Ana Escanilla, Alfonso Monje, Carmen Guerrero Márquez, Jerónimo Saiz-Ruiz, Manel Esteller, Santiago Ropero
Attempts to discover genes that are involved in the pathogenesis of major psychiatric disorders have been frustrating and often fruitless. Concern is building about the need to understand the complex ways in which nature and nurture interact to produce mental illness. We analyze the epigenome in several brain regions from schizophrenic patients with severe cognitive impairment using high-resolution (450K) DNA methylation array. We identified 139 differentially methylated CpG sites included in known and novel candidate genes sequences as well as in and intergenic sequences which functions remain unknown...
2016: Frontiers in Psychology
Tereza Vaclová, Nicholas T Woods, Diego Megías, Sergio Gomez-Lopez, Fernando Setién, José María García Bueno, José Antonio Macías, Alicia Barroso, Miguel Urioste, Manel Esteller, Alvaro N A Monteiro, Javier Benítez, Ana Osorio
BRCA1-deficient cells show defects in DNA repair and rely on other members of the DNA repair machinery, which makes them sensitive to PARP inhibitors (PARPi). Although carrying a germline pathogenic variant in BRCA1/2 is the best determinant of response to PARPi, a significant percentage of the patients do not show sensitivity and/or display increased toxicity to the agent. Considering previously suggested mutation-specific BRCA1 haploinsufficiency, we aimed to investigate whether there are any differences in cellular response to PARPi Olaparib depending on the BRCA1 mutation type...
October 13, 2016: Human Molecular Genetics
Maxime Janin, Manel Esteller
Mutations to the Krebs cycle enzyme fumarate hydratase in cancer cells leads to an accumulation of the oncometabolite fumarate. Sciacovelli et al. (2016) demonstrate an epigenetically dependent epithelial-to-mesenchymal transition mediated by modulation of the miR-200 cluster and TET demethylation in response to fumarate accumulation.
October 11, 2016: Cell Metabolism
Josep Manel Santos, Esther Pousa, Estel Soto, Anna Comes, Pere Roura, Francesc X Arrufat, Jordi E Obiols
The present study analyzed the capacity for mentalization of patients with bipolar disorder (BD) and their first-degree relatives (FDR) and examined the implications of clinical variables and cognitive deficits. The study recruited 31 patients with type I BD, 18 FDR, and 31 paired healthy controls. Their capacity for mentalization was explored by means of first- and second-order false-belief tasks, the hinting task, and the Movie for the Assessment of Social Cognition (MASC). Patients and FDR were found to have a theory of mind (ToM) deficit when they were evaluated with the MASC, which was also related to a worse neurocognitive performance and to being a patient or FDR...
September 22, 2016: Journal of Nervous and Mental Disease
Edith R Salcedo-Sánchez, Sofía E Garrido Hoyos, Ma Vicenta Esteller Alberich, Manuel Martínez Morales
The spatial and temporal variation of water quality in the urban area of the Puebla Valley aquifer was evaluated using historical and present data obtained during this investigation. The current study assessed water quality based on the Water Quality Index developed by the Canadian Council of Ministers of the Environment (CCME-WQI), which provides a mathematical framework to evaluate the quality of water in combination with a set of conditions representing quality criteria, or limits. This index is flexible regarding the type and number of variables used by the evaluation given that the variables of interest are selected according to the characteristics and objectives of development, conservation and compliance with regulations...
October 2016: Environmental Monitoring and Assessment
Nifang Niu, Tongzheng Liu, Junmei Cairns, Reynold C Ly, Xianglin Tan, Min Deng, Brooke L Fridley, Krishna R Kalari, Ryan P Abo, Gregory Jenkins, Anthony Batzler, Erin E Carlson, Poulami Barman, Sebastian Moran, Holger Heyn, Manel Esteller, Liewei Wang
Metformin is currently considered as a promising anticancer agent in addition to its anti-diabetic effect. To better individualize metformin therapy and explore novel molecular mechanisms in cancer treatment, we conducted a pharmacogenomic study using 266 lymphoblastoid cell lines (LCLs). Metformin cytotoxicity assay was performed using the MTS assay. Genome-wide association (GWA) analyses were performed in LCLs using 1.3 million SNPs, 485k DNA methylation probes, 54k mRNA expression probe sets, and metformin cytotoxicity (IC50s)...
September 11, 2016: Human Molecular Genetics
Iris Martinez-Quetglas, Roser Pinyol, Daniel Dauch, Sara Torrecilla, Victoria Tovar, Agrin Moeini, Clara Alsinet, Anna Portela, Leonardo Rodriguez-Carunchio, Manel Solé, Amaia Lujambio, Augusto Villanueva, Swan Thung, Manel Esteller, Lars Zender, Josep M Llovet
BACKGROUND & AIMS: Effective treatments are urgently needed for hepatocellular carcinoma (HCC), which is usually diagnosed at advanced stages. Signaling via the insulin-like growth factor (IGF) pathway is aberrantly activated in HCC by IGF2 overexpression. We aimed to elucidate the mechanism of IGF2 overexpression and its oncogenic activities and evaluate the anti-tumor effects of reducing IGF2 signaling. METHODS: We obtained 228 HCC samples from patients who underwent liver resection, 168 paired non-tumor adjacent cirrhotic liver samples, and 10 non-tumor liver tissues from patients undergoing resection for hepatic hemangioma...
September 7, 2016: Gastroenterology
O A Romero, S Verdura, M Torres-Diz, A Gomez, S Moran, E Condom, M Esteller, A Villanueva, M Sanchez-Cespedes
Components of the SWI/SNF chromatin remodeling complex, including BRG1 (also SMARCA4), are inactivated in cancer. Among other functions, SWI/SNF orchestrates the response to retinoid acid (RA) and glucocorticoids (GC) involving downregulation of MYC. The epigenetic drugs SAHA and azacytidine, as well as RA and GC, are currently being used to treat some malignancies but their therapeutic potential in lung cancer is not well established. Here we aimed to determine the possible therapeutic effects of azacytidine and SAHA (A/S) alone or in combination with GC plus RA (GC/RA) in lung cancers with either BRG1 inactivation or MYC amplification...
September 5, 2016: Oncogene
Sebastian Moran, Anna Martínez-Cardús, Sergi Sayols, Eva Musulén, Carme Balañá, Anna Estival-Gonzalez, Cátia Moutinho, Holger Heyn, Angel Diaz-Lagares, Manuel Castro de Moura, Giulia M Stella, Paolo M Comoglio, Maria Ruiz-Miró, Xavier Matias-Guiu, Roberto Pazo-Cid, Antonio Antón, Rafael Lopez-Lopez, Gemma Soler, Federico Longo, Isabel Guerra, Sara Fernandez, Yassen Assenov, Christoph Plass, Rafael Morales, Joan Carles, David Bowtell, Linda Mileshkin, Daniela Sia, Richard Tothill, Josep Tabernero, Josep M Llovet, Manel Esteller
BACKGROUND: Cancer of unknown primary ranks in the top ten cancer presentations and has an extremely poor prognosis. Identification of the primary tumour and development of a tailored site-specific therapy could improve the survival of these patients. We examined the feasability of using DNA methylation profiles to determine the occult original cancer in cases of cancer of unknown primary. METHODS: We established a classifier of cancer type based on the microarray DNA methylation signatures (EPICUP) in a training set of 2790 tumour samples of known origin representing 38 tumour types and including 85 metastases...
October 2016: Lancet Oncology
Estel Ramos-Marquès, Samuel Zambrano, Alberto Tiérrez, Marco E Bianchi, Alessandra Agresti, Francisco García-Del Portillo
The eukaryotic transcriptional regulator Nuclear Factor kappa B (NF-κB) plays a central role in the defense to pathogens. Despite this, few studies have analyzed NF-κB activity in single cells during infection. Here, we investigated at the single cell level how NF-κB nuclear localization - a proxy for NF-κB activity - oscillates in infected and uninfected fibroblasts co-existing in cultures exposed to Salmonella enterica serovar Typhimurium. Fibroblasts were used due to the capacity of S. Typhimurium to persist in this cell type...
August 30, 2016: Virulence
G M Davolli, B A Ball, A Esteller-Vico, A N J Claes, I F Canisso, C E Fedorka, E M Woodward, M H T Troedsson, E L Squires
The GnRH antagonist, acyline, has not yet been investigated in the stallion. Our study aimed to: (1) evaluate the downregulation of the stallion hypothalamic-pituitary-gonadal axis by acyline through assessment of seminal parameters, testicular volume, and sexual behavior; (2) assess hormonal response of acyline-treated stallions to GnRH stimulation; and (3) verify reversibility after treatment. Stallions were assessed pretreatment and subsequently treated (every five days) for 50 days: acyline (n = 4; 330 μg/kg acyline) or control (n = 4, vehicle)...
July 26, 2016: Theriogenology
Jordi Serra-Musach, Francesca Mateo, Eva Capdevila-Busquets, Gorka Ruiz de Garibay, Xiaohu Zhang, Raj Guha, Craig J Thomas, Judit Grueso, Alberto Villanueva, Samira Jaeger, Holger Heyn, Miguel Vizoso, Hector Pérez, Alex Cordero, Eva Gonzalez-Suarez, Manel Esteller, Gema Moreno-Bueno, Andreas Tjärnberg, Conxi Lázaro, Violeta Serra, Joaquín Arribas, Mikael Benson, Mika Gustafsson, Marc Ferrer, Patrick Aloy, Miquel Àngel Pujana
BACKGROUND: Cancer patients often show no or only modest benefit from a given therapy. This major problem in oncology is generally attributed to the lack of specific predictive biomarkers, yet a global measure of cancer cell activity may support a comprehensive mechanistic understanding of therapy efficacy. We reasoned that network analysis of omic data could help to achieve this goal. METHODS: A measure of "cancer network activity" (CNA) was implemented based on a previously defined network feature of communicability...
2016: Genome Medicine
Basile Vuichoud, Aurélien Bornet, Florian de Nanteuil, Jonas Milani, Estel Canet, Xiao Ji, Pascal Miéville, Emmanuelle Weber, Dennis Kurzbach, Andrea Flamm, Robert Konrat, Alvar D Gossert, Sami Jannin, Geoffrey Bodenhausen
Hyperpolarization is generated by dissolution dynamic nuclear polarization (d-DNP) using a polymer-based polarizing agent dubbed FLAP (filterable labeled agents for polarization). It consists of a thermo-responsive poly(N-isopropylacrylamide), also known as pNiPAM-COOH, labeled with nitroxide radicals. The polymer powder is impregnated with an arbitrary solution of interest and frozen as is. Dissolution is followed by a simple filtration, leading to hyperpolarized solutions free from any contaminants. We demonstrated the use of FLAP to hyperpolarize partially deuterated water up to P((1) H)=6 % with a long relaxation T1 >36 s characteristic of high purity...
October 4, 2016: Chemistry: a European Journal
Helena Pomares, Claudia M Palmeri, Daniel Iglesias-Serret, Cristina Moncunill-Massaguer, José Saura-Esteller, Sonia Núñez-Vázquez, Enric Gamundi, Montserrat Arnan, Sara Preciado, Fernando Albericio, Rodolfo Lavilla, Gabriel Pons, Eva M González-Barca, Ana M Cosialls, Joan Gil
Fluorizoline is a new synthetic molecule that induces apoptosis by selectively targeting prohibitins (PHBs). In this study, the pro-apoptotic effect of fluorizoline was assessed in two cell lines and 21 primary samples from patients with debut of acute myeloid leukemia (AML). Fluorizoline induced apoptosis in AML cells at concentrations in the low micromolar range. All primary samples were sensitive to fluorizoline irrespectively of patients' clinical or genetic features. In addition, fluorizoline inhibited the clonogenic capacity and induced differentiation of AML cells...
August 17, 2016: Oncotarget
Mario Lucariello, Enrique Vidal, Silvia Vidal, Mauricio Saez, Laura Roa, Dori Huertas, Mercè Pineda, Esther Dalfó, Joaquin Dopazo, Paola Jurado, Judith Armstrong, Manel Esteller
Classical Rett syndrome (RTT) is a neurodevelopmental disorder where most of cases carry MECP2 mutations. Atypical RTT variants involve mutations in CDKL5 and FOXG1. However, a subset of RTT patients remains that do not carry any mutation in the described genes. Whole exome sequencing was carried out in a cohort of 21 female probands with clinical features overlapping with those of RTT, but without mutations in the customarily studied genes. Candidates were functionally validated by assessing the appearance of a neurological phenotype in Caenorhabditis elegans upon disruption of the corresponding ortholog gene...
December 2016: Human Genetics
Anna Martínez-Cardús, Sebastian Moran, Eva Musulen, Cátia Moutinho, Jose L Manzano, Eva Martinez-Balibrea, Montserrat Tierno, Elena Élez, Stefania Landolfi, Patricia Lorden, Carles Arribas, Fabian Müller, Christoph Bock, Josep Tabernero, Manel Esteller
BACKGROUND & AIMS: There are few validated biomarkers that can be used to predict outcomes for patients with colorectal cancer. Part of the challenge is the genetic and molecular heterogeneity of colorectal tumors not only among patients, but also within tumors. We have explored intratumor heterogeneity at the epigenetic level, due to its dynamic nature. We analyzed DNA methylation profiles of the digestive tract surface and the central bulk and invasive front regions of colorectal tumors...
August 10, 2016: Gastroenterology
James S W Prutton, Cecily Bonadio, Betsy Vaughan, Jorge E Nieto, Alison M Harvey, Krista E Estell
A 14-year-old Quarter Horse was examined for a draining tract of 8 months' duration on the right mandible that was non-responsive to antibiotic therapy and surgical therapy. Further investigation and subsequent treatment with sialoendoscopy and ultrasonography were performed to relieve an obstruction of plant awns in the mandibular salivary duct.
August 2016: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
Noelia López-Montero, Estel Ramos-Marquès, Cristina Risco, Francisco García-Del Portillo
Xenophagy has been studied in epithelial cells infected with Salmonella enterica serovar Typhimurium (S. Typhimurium). Distinct autophagy receptors target this pathogen to degradation after interacting with ubiquitin on the surface of cytosolic bacteria, and the phagophore- and autophagosome-associated protein MAP1LC3/LC3. Glycans exposed in damaged phagosomal membranes and diacylglycerol accumulation in the phagosomal membrane also trigger S. Typhimurium xenophagy. How these responses control intraphagosomal and cytosolic bacteria remains poorly understood...
October 2, 2016: Autophagy
A B Crujeiras, A Diaz-Lagares, J M Moreno-Navarrete, J Sandoval, D Hervas, A Gomez, W Ricart, F F Casanueva, M Esteller, J M Fernandez-Real
Elucidating the potential mechanisms involved in the detrimental effect of excess body weight on insulin action is an important priority in counteracting obesity-associated diseases. The present study aimed to disentangle the epigenetic basis of insulin resistance by performing a genome-wide epigenetic analysis in visceral adipose tissue (VAT) from morbidly obese patients depending on the insulin sensitivity evaluated by the clamp technique. The global human methylome screening performed in VAT from 7 insulin-resistant (IR) and 5 insulin-sensitive (IS) morbidly obese patients (discovery cohort) analyzed using the Infinium HumanMethylation450 BeadChip array identified 982 CpG sites able to perfectly separate the IR and IS samples...
July 15, 2016: Translational Research: the Journal of Laboratory and Clinical Medicine
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