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https://www.readbyqxmd.com/read/28107396/mixfit-methodology-for-computing-ancestry-related-genetic-scores-at-the-individual-level-and-its-application-to-the-estonian-and-finnish-population-studies
#1
Toomas Haller, Liis Leitsalu, Krista Fischer, Marja-Liisa Nuotio, Tõnu Esko, Dorothea Irene Boomsma, Kirsten Ohm Kyvik, Tim D Spector, Markus Perola, Andres Metspalu
Ancestry information at the individual level can be a valuable resource for personalized medicine, medical, demographical and history research, as well as for tracing back personal history. We report a new method for quantitatively determining personal genetic ancestry based on genome-wide data. Numerical ancestry component scores are assigned to individuals based on comparisons with reference populations. These comparisons are conducted with an existing analytical pipeline making use of genotype phasing, similarity matrix computation and our addition-multidimensional best fitting by MixFit...
2017: PloS One
https://www.readbyqxmd.com/read/28106487/for-more-events-and-to-book-online-please-visit-www-rsm-ac-uk-diary
#2
(no author information available yet)
No abstract text is available yet for this article.
January 2017: Journal of the Royal Society of Medicine
https://www.readbyqxmd.com/read/28105856/evaluation-of-in-silico-tools-to-predict-the-skin-sensitization-potential-of-chemicals
#3
G R Verheyen, E Braeken, K Van Deun, S Van Miert
Public domain and commercial in silico tools were compared for their performance in predicting the skin sensitization potential of chemicals. The packages were either statistical based (Vega, CASE Ultra) or rule based (OECD Toolbox, Toxtree, Derek Nexus). In practice, several of these in silico tools are used in gap filling and read-across, but here their use was limited to make predictions based on presence/absence of structural features associated to sensitization. The top 400 ranking substances of the ATSDR 2011 Priority List of Hazardous Substances were selected as a starting point...
January 20, 2017: SAR and QSAR in Environmental Research
https://www.readbyqxmd.com/read/28103831/demographics-of-patients-receiving-intravitreal-anti-vegf-treatment-in-real-world-practice-healthcare-research-data-versus-randomized-controlled-trials
#4
F Ziemssen, N Feltgen, F G Holz, R Guthoff, A Ringwald, T Bertelmann, A Wiedon, C Korb
BACKGROUND: While randomized controlled trials (RCTs) are based on strict inclusion/exclusion criteria, non-interventional studies (NISs) might provide additional information to guide management in patients more representative to the real-world setting. The aim of this study was to compare baseline characteristics of patients receiving intravitreal treatment in the NIS OCEAN with those from published RCTs. METHODS: The ongoing OCEAN study enrolled patients treated with ranibizumab for neovascular age-related macular degeneration (nAMD), diabetic macular oedema (DME) or branch/central retinal vein occlusion (B/CRVO)...
January 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28103615/radiation-induced-lung-metastasis-development-is-mt1-mmp-dependent-in-a-triple-negative-breast-cancer-mouse-model
#5
Gina Bouchard, Hélène Therriault, Sameh Geha, Rachel Bujold, Caroline Saucier, Benoit Paquette
BACKGROUND: The prognosis of triple-negative breast cancer (TNBC) is still difficult to establish. Some TNBC benefit from radiotherapy (RT) and are cured, while in other patients metastases appear during the first 3 years after treatment. In this study, an animal model of TNBC was used to determine whether the expression of the cell membrane protease MT1-MMP in cancer cells was associated with radiation-stimulated development of lung metastases. METHODS: Using invasion chambers, irradiated fibroblasts were used as chemoattractants to assess the invasiveness of TNBC D2A1 cell lines showing downregulated expression of MT1-MMP, which were compared with D2A1-wt (wild-type) and D2A1 shMT1-mock (empty vector) cell lines...
January 19, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28103614/enrichment-of-putative-pax8-target-genes-at-serous-epithelial-ovarian-cancer-susceptibility-loci
#6
Siddhartha P Kar, Emily Adler, Jonathan Tyrer, Dennis Hazelett, Hoda Anton-Culver, Elisa V Bandera, Matthias W Beckmann, Andrew Berchuck, Natalia Bogdanova, Louise Brinton, Ralf Butzow, Ian Campbell, Karen Carty, Jenny Chang-Claude, Linda S Cook, Daniel W Cramer, Julie M Cunningham, Agnieszka Dansonka-Mieszkowska, Jennifer Anne Doherty, Thilo Dörk, Matthias Dürst, Diana Eccles, Peter A Fasching, James Flanagan, Aleksandra Gentry-Maharaj, Rosalind Glasspool, Ellen L Goode, Marc T Goodman, Jacek Gronwald, Florian Heitz, Michelle A T Hildebrandt, Estrid Høgdall, Claus K Høgdall, David G Huntsman, Allan Jensen, Beth Y Karlan, Linda E Kelemen, Lambertus A Kiemeney, Susanne K Kjaer, Jolanta Kupryjanczyk, Diether Lambrechts, Douglas A Levine, Qiyuan Li, Jolanta Lissowska, Karen H Lu, Jan Lubiński, Leon F A G Massuger, Valerie McGuire, Iain McNeish, Usha Menon, Francesmary Modugno, Alvaro N Monteiro, Kirsten B Moysich, Roberta B Ness, Heli Nevanlinna, James Paul, Celeste L Pearce, Tanja Pejovic, Jennifer B Permuth, Catherine Phelan, Malcolm C Pike, Elizabeth M Poole, Susan J Ramus, Harvey A Risch, Mary Anne Rossing, Helga B Salvesen, Joellen M Schildkraut, Thomas A Sellers, Mark Sherman, Nadeem Siddiqui, Weiva Sieh, Honglin Song, Melissa Southey, Kathryn L Terry, Shelley S Tworoger, Christine Walsh, Nicolas Wentzensen, Alice S Whittemore, Anna H Wu, Hannah Yang, Wei Zheng, Argyrios Ziogas, Matthew L Freedman, Simon A Gayther, Paul D P Pharoah, Kate Lawrenson
BACKGROUND: Genome-wide association studies (GWAS) have identified 18 loci associated with serous ovarian cancer (SOC) susceptibility but the biological mechanisms driving these findings remain poorly characterised. Germline cancer risk loci may be enriched for target genes of transcription factors (TFs) critical to somatic tumorigenesis. METHODS: All 615 TF-target sets from the Molecular Signatures Database were evaluated using gene set enrichment analysis (GSEA) and three GWAS for SOC risk: discovery (2196 cases/4396 controls), replication (7035 cases/21 693 controls; independent from discovery), and combined (9627 cases/30 845 controls; including additional individuals)...
January 19, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28103613/tissue-based-next-generation-sequencing-application-in-a-universal-healthcare-system
#7
REVIEW
Seán O Hynes, Brendan Pang, Jacqueline A James, Perry Maxwell, Manuel Salto-Tellez
In the context of solid tumours, the evolution of cancer therapies to more targeted and nuanced approaches has led to the impetus for personalised medicine. The targets for these therapies are largely based on the driving genetic mutations of the tumours. To track these multiple driving mutations the use of next generation sequencing (NGS) coupled with a morphomolecular approach to tumours, has the potential to deliver on the promises of personalised medicine. A review of NGS and its application in a universal healthcare (UHC) setting is undertaken as the technology has a wide appeal and utility in diagnostic, clinical trial and research paradigms...
January 19, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28103612/a-phase-iii-randomised-controlled-trial-of-erlotinib-vs-gefitinib-in-advanced-non-small-cell-lung-cancer-with-egfr-mutations
#8
J J Yang, Q Zhou, H H Yan, X C Zhang, H J Chen, H Y Tu, Z Wang, C R Xu, J Su, B C Wang, B Y Jiang, X Y Bai, W Z Zhong, X N Yang, Y L Wu
BACKGROUND: A phase III trial was conducted to compare the safety and efficacy of erlotinib with that of gefitinib in advanced non-small cell lung cancer harbouring epidermal growth factor receptor mutations in exon 19 or 21. METHODS: Eligible patients were randomised to receive erlotinib (150 mg per day) or gefitinib (250 mg per day) orally until disease progression or unacceptable toxicity. We aimed to determine whether erlotinib is superior to gefitinib in efficacy...
January 19, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28103611/phase-ii-randomised-discontinuation-trial-of-the-met-vegf-receptor-inhibitor-cabozantinib-in-metastatic-melanoma
#9
Adil Daud, Harriet M Kluger, Razelle Kurzrock, Frauke Schimmoller, Aaron L Weitzman, Thomas A Samuel, Ali H Moussa, Michael S Gordon, Geoffrey I Shapiro
BACKGROUND: A phase II randomised discontinuation trial assessed cabozantinib (XL184), an orally bioavailable inhibitor of tyrosine kinases including VEGF receptors, MET, and AXL, in a cohort of patients with metastatic melanoma. METHODS: Patients received cabozantinib 100 mg daily during a 12-week lead-in. Patients with stable disease (SD) per Response Evaluation Criteria in Solid Tumours (RECIST) at week 12 were randomised to cabozantinib or placebo. Primary endpoints were objective response rate (ORR) at week 12 and postrandomisation progression-free survival (PFS)...
January 19, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28100627/inflammatory-biomarkers-predict-heart-failure-severity-and-prognosis-in-patients-with-heart-failure-with-preserved-ejection-fraction-a-holistic-proteomic-approach
#10
Camilla Hage, Erik Michaëlsson, Cecilia Linde, Erwan Donal, Jean-Claude Daubert, Li-Ming Gan, Lars H Lund
BACKGROUND: Underlying mechanisms in heart failure (HF) with preserved ejection fraction remain unknown. We investigated cardiovascular plasma biomarkers in HF with preserved ejection fraction and their correlation to diastolic dysfunction, functional class, pathophysiological processes, and prognosis. METHODS AND RESULTS: In 86 stable patients with HF and EF ≥45% in the Karolinska Rennes (KaRen) biomarker substudy, biomarkers were quantified by a multiplex immunoassay...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28100441/assessing-the-efficacy-of-an-app-based-method-of-family-planning-the-dot-study-protocol
#11
Rebecca G Simmons, Dominick C Shattuck, Victoria H Jennings
BACKGROUND: Some 222 million women worldwide have unmet needs for contraception; they want to avoid pregnancy, but are not using a contraceptive method, primarily because of concerns about side effects associated with most available methods. Expanding contraceptive options-particularly fertility awareness options that provide women with information about which days during their menstrual cycles they are likely to become pregnant if they have unprotected intercourse-has the potential to reduce unmet need...
January 18, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28099838/osteoarthritis-year-in-review-2016-biomarkers-biochemical-markers
#12
REVIEW
A Mobasheri, A-C Bay-Jensen, W E van Spil, J Larkin, M C Levesque
PURPOSE: The aim of this "Year in Review" article is to summarize and discuss the implications of biochemical marker related articles published between the Osteoarthritis Research Society International (OARSI) 2015 Congress in Seattle and the OARSI 2016 Congress in Amsterdam. METHODS: The PubMed/MEDLINE bibliographic database was searched using the combined keywords: 'biomarker' and 'osteoarthritis'. The PubMed/MEDLINE literature search was conducted using the Advanced Search Builder function (http://www...
January 2, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28099516/clinical-practice-guidelines-for-rare-diseases-the-orphanet-database
#13
Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, Sophie Höhn, Valérie Lanneau, Ana Rath
Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs...
2017: PloS One
https://www.readbyqxmd.com/read/28099277/benefits-of-comprehensive-rehabilitation-therapy-in-thymectomy-for-myasthenia-gravis-a-propensity-score-matching-analysis
#14
Vincenzo Ambrogi, Tommaso Claudio Mineo
OBJECTIVE: To demonstrate the effectiveness of a comprehensive program of rehabilitation therapy in patients undergoing thymectomy for myasthenia gravis (MG). DESIGN: From 2005 to 2010, 46 consecutive patients affected by MG underwent a rehabilitation program both before and after thymectomy. We matched each patient with a "control patient" who underwent thymectomy within the period 1999 to 2004 with no preoperative rehabilitation, who had the closest propensity score matching...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28098792/acknowledgement-to-reviewers-of-genes-in-2016
#15
EDITORIAL
Genes Editorial Office
The editors of Genes would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2016. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next MDPI publication and can download a certificate of recognition directly from our submission system...
January 13, 2017: Genes
https://www.readbyqxmd.com/read/28097215/an-ambiguity-principle-for-assigning-protein-structural-domains
#16
Guillaume Postic, Yassine Ghouzam, Romain Chebrek, Jean-Christophe Gelly
Ambiguity is the quality of being open to several interpretations. For an image, it arises when the contained elements can be delimited in two or more distinct ways, which may cause confusion. We postulate that it also applies to the analysis of protein three-dimensional structure, which consists in dividing the molecule into subunits called domains. Because different definitions of what constitutes a domain can be used to partition a given structure, the same protein may have different but equally valid domain annotations...
January 2017: Science Advances
https://www.readbyqxmd.com/read/28097046/molecular-classification-of-tissue-from-a-transformed-non-hogkin-s-lymphoma-case-with-unexpected-long-time-remission
#17
Julie Støve Bødker, Marianne Tang Severinsen, Tarec Christoffer El-Galaly, Rasmus Froberg Brøndum, Maria Bach Laursen, Steffen Falgreen, Mette Nyegaard, Alexander Schmitz, Lasse Hjort Jakobsen, Anna Amanda Schönherz, Hanne Due, Linn Reinholdt, Martin Bøgsted, Karen Dybkær, Hans Erik Johnsen
BACKGROUND: The concept of precision medicine in cancer includes individual molecular studies to predict clinical outcomes. In the present N = 1 case we retrospectively have analysed lymphoma tissue by exome sequencing and global gene expression in a patient with unexpected long-term remission following relaps. The goals were to phenotype the diagnostic and relapsed lymphoma tissue and evaluate its pattern. Furthermore, to identify mutations available for targeted therapy and expression of genes to predict specific drug effects by resistance gene signatures (REGS) for R-CHOP as described at http://www...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28096957/cinnamon-effects-on-metabolic-syndrome-a-review-based-on-its-mechanisms
#18
REVIEW
Hamid Mollazadeh, Hossein Hosseinzadeh
OBJECTIVES: Nowadays, cardiovascular diseases (CVDs) are the major risk factors of death globally. One of the most undeniable reasons of CVDs is metabolic syndrome (MetS). MetS is defined as a complex of diseases including insulin resistance, hyperglycemia, obesity, high blood pressure and dyslipidemia. The use of complementary medicine such as traditional herbal species can be effective in treatment of MetS's complications. Cinnamomum verum (family Lauraceae) is a medicinal global plant which has been used daily by people all over the world...
December 2016: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28096100/efficacy-and-safety-of-apixaban-compared-with-warfarin-in-patients-with-atrial-fibrillation-and-peripheral-artery-disease-insights-from-the-aristotle-trial
#19
Peter T Hu, Renato D Lopes, Susanna R Stevens, Lars Wallentin, Laine Thomas, John H Alexander, Michael Hanna, Basil S Lewis, Freek W A Verheugt, Christopher B Granger, W Schuyler Jones
BACKGROUND: We studied (1) the rates of stroke or systemic embolism and bleeding in patients with atrial fibrillation and peripheral artery disease (PAD) and (2) the efficacy and safety of apixaban versus warfarin in patients with atrial fibrillation with and without PAD. METHODS AND RESULTS: The Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation (ARISTOTLE) trial randomized 18 201 patients with atrial fibrillation to apixaban or warfarin for stroke/systemic embolism prevention; 884 (4...
January 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28096099/high-saturated-fat-diet-increases-circulating-angiotensin-converting-enzyme-which-is-enhanced-by-the-rs4343-polymorphism-defining-persons-at-risk-of-nutrient-dependent-increases-of-blood-pressure
#20
Rita Schüler, Martin A Osterhoff, Turid Frahnow, Anne-Cathrin Seltmann, Andreas Busjahn, Stefan Kabisch, Li Xu, Alexander S Mosig, Joachim Spranger, Matthias Möhlig, Silke Hornemann, Michael Kruse, Andreas F H Pfeiffer
BACKGROUND: Angiotensin-converting enzyme (ACE) plays a major role in blood pressure regulation and cardiovascular homeostasis. Contrary to the assumption that ACE levels are stable, circulating ACE has been shown to be altered in obesity and weight loss. We sought to examine effects of a high-saturated-fat (HF) diet on ACE within the NUtriGenomic Analysis in Twins (NUGAT) study. METHODS AND RESULTS: Forty-six healthy and nonobese twin pairs initially consumed a carbohydrate-rich, low-fat diet over a period of 6 weeks to standardize for nutritional behavior prior to the study, followed by 6 weeks of HF diet under isocaloric conditions...
January 17, 2017: Journal of the American Heart Association
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