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Precision medicine

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https://www.readbyqxmd.com/read/28106607/individualized-venous-thromboembolism-risk-stratification-using-the-2005-caprini-score-to-identify-the-benefits-and-harms-of-chemoprophylaxis-in-surgical-patients-a-meta-analysis
#1
Christopher J Pannucci, Lukasz Swistun, John K MacDonald, Peter K Henke, Benjamin S Brooke
OBJECTIVE: We performed a meta-analysis to investigate benefits and harms of chemoprophylaxis among surgical patients individually risk stratified for venous thromboembolism (VTE) using Caprini scores. SUMMARY OF BACKGROUND DATA: Individualized VTE risk stratification may identify high risk surgical patients who benefit from peri-operative chemoprophylaxis. METHODS: MEDLINE, EMBASE, and the Cochrane Library (CENTRAL) databases were queried...
January 19, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28106333/translating-precision
#2
EDITORIAL
Michael A Pacanowski
Precision medicine is based on a simple precept that deep information about an individual patient can be used to guide his or her health care. In the not-too-distant future, clinicians may have point-of-care access to an individual's entire genome, dense data captured from wearable devices, and informatics tools that aggregate data from clinical experience to allow for real-time decision support. The innovative technologies being developed in pursuit of precision medicine afford researchers and clinicians the opportunity to generate and consume information at an unprecedented scale...
January 20, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28106064/precision-medicine-for-disease-modification-in-parkinson-disease
#3
REVIEW
Alberto J Espay, Patrik Brundin, Anthony E Lang
No abstract text is available yet for this article.
January 20, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28105795/the-missing-omes-proposing-social-and-environmental-nomenclature-in-precision-medicine
#4
Matthew M Davis, Thomas P Shanley
In principle, precision medicine incorporates disease prevention and treatment that takes into account individual differences in people's genes, environments, and lifestyles. In practice, research regarding genes attracts more attention and resources than research focused on environments and lifestyles. Such progress-hindering asymmetry may be related to dissimilar naming conventions across scientific domains. We propose a novel "-ome"-based nomenclature that incorporates known social and environmental determinants of human health, and thereby reflects evidence across the full spectrum of scientific endeavors in precision medicine...
January 19, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28105615/-improvement-of-prognostic-and-predictive-network-of-colorectal-cancer-based-upon-the-8th-edition-of-ajcc-colorectal-cancer-staging-system
#5
Hongwei Yao, Hongwei Wu, Yinhua Liu
The 8th edition of AJCC cancer staging system will be launched all over the world in January 1, 2018. The major advances in the 8th edition are the introduction of non-anatomic prognostic and predictive factors supported by I(-II( grade evidence based on histopathology and molecular biology, and the improvement of prognostic assessment system based on these factors, including CEA level, cancer retraction score, circumference margin, lymphatic invasion, peripheral nerve invasion, microsatellite instability, KRAS/NRAS gene mutation and BRAF gene mutation...
January 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28105082/genetic-diagnosis-and-treatment-of-a-chinese-ketosis-prone-mody-3-family-with-depression
#6
Jun Tang, Chen-Yi Tang, Fang Wang, Yue Guo, Hao-Neng Tang, Ci-La Zhou, Shu-Wen Tan, Shi-Ping Liu, Zhi-Guang Zhou, Hou-De Zhou
BACKGROUND: To analyze the gene mutation and mental disorder of a Chinese ketosis-prone diabetes (KPD) family, and to make a precise diagnosis and give a treatment for them. METHODS: We studied a Chinese family with a clinical diagnosis of maturity-onset diabetes of the young (MODY). The clinical data and the blood samples were collected. The promotor and coding regions inclusive intron exon boundaries of the HNF1A, HNF4A were detected by polymerase chain reaction (PCR) and direct sequencing...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28104906/interrogating-open-issues-in-cancer-precision-medicine-with-patient-derived-xenografts
#7
Annette T Byrne, Denis G Alférez, Frédéric Amant, Daniela Annibali, Joaquín Arribas, Andrew V Biankin, Alejandra Bruna, Eva Budinská, Carlos Caldas, David K Chang, Robert B Clarke, Hans Clevers, George Coukos, Virginie Dangles-Marie, S Gail Eckhardt, Eva Gonzalez-Suarez, Els Hermans, Manuel Hidalgo, Monika A Jarzabek, Steven de Jong, Jos Jonkers, Kristel Kemper, Luisa Lanfrancone, Gunhild Mari Mælandsmo, Elisabetta Marangoni, Jean-Christophe Marine, Enzo Medico, Jens Henrik Norum, Héctor G Palmer, Daniel S Peeper, Pier Giuseppe Pelicci, Alejandro Piris-Gimenez, Sergio Roman-Roman, Oscar M Rueda, Joan Seoane, Violeta Serra, Laura Soucek, Dominique Vanhecke, Alberto Villanueva, Emilie Vinolo, Andrea Bertotti, Livio Trusolino
Patient-derived xenografts (PDXs) have emerged as an important platform to elucidate new treatments and biomarkers in oncology. PDX models are used to address clinically relevant questions, including the contribution of tumour heterogeneity to therapeutic responsiveness, the patterns of cancer evolutionary dynamics during tumour progression and under drug pressure, and the mechanisms of resistance to treatment. The ability of PDX models to predict clinical outcomes is being improved through mouse humanization strategies and the implementation of co-clinical trials, within which patients and PDXs reciprocally inform therapeutic decisions...
January 20, 2017: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/28104841/human-tissues-in-a-dish-the-research-and-ethical-implications-of-organoid-technology
#8
REVIEW
Annelien L Bredenoord, Hans Clevers, Juergen A Knoblich
The ability to generate human tissues in vitro from stem cells has raised enormous expectations among the biomedical research community, patients, and the general public. These organoids enable studies of normal development and disease and allow the testing of compounds directly on human tissue. Organoids hold the promise to influence the entire innovation cycle in biomedical research. They affect fields that have been subjects of intense ethical debate, ranging from animal experiments and the use of embryonic or fetal human tissues to precision medicine, organoid transplantation, and gene therapy...
January 20, 2017: Science
https://www.readbyqxmd.com/read/28104717/clinical-targeted-exome-based-sequencing-in-combination-with-genome-wide-copy-number-profiling-precision-medicine-analysis-of-203-pediatric-brain-tumors
#9
Shakti H Ramkissoon, Pratiti Bandopadhayay, Jaeho Hwang, Lori A Ramkissoon, Noah F Greenwald, Steven E Schumacher, Ryan O'Rourke, Nathan Pinches, Patricia Ho, Hayley Malkin, Claire Sinai, Mariella Filbin, Ashley Plant, Wenya Linda Bi, Michael S Chang, Edward Yang, Karen D Wright, Peter E Manley, Matthew Ducar, Sanda Alexandrescu, Hart Lidov, Ivana Delalle, Liliana C Goumnerova, Alanna J Church, Katherine A Janeway, Marian H Harris, Laura E MacConaill, Rebecca D Folkerth, Neal I Lindeman, Charles D Stiles, Mark W Kieran, Azra H Ligon, Sandro Santagata, Adrian M Dubuc, Susan N Chi, Rameen Beroukhim, Keith L Ligon
BACKGROUND: Clinical genomics platforms are needed to identify targetable alterations, but implementation of these technologies and best practices in routine clinical pediatric oncology practice are not yet well established. METHODS: Profile is an institution-wide prospective clinical research initiative that uses targeted sequencing to identify targetable alterations in tumors. OncoPanel, a multiplexed targeted exome-sequencing platform that includes 300 cancer-causing genes, was used to assess single nucleotide variants and rearrangements/indels...
January 19, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28104618/hysa-a-hybrid-structural-variant-assembly-approach-using-next-generation-and-single-molecule-sequencing-technologies
#10
Xian Fan, Mark Chaisson, Luay Nakhleh, Ken Chen
Achieving complete, accurate and cost-effective assembly of human genomes is of great importance for realizing the promise of precision medicine. The abundance of repeats and genetic variations in human genomes and the limitations of existing sequencing technologies call for the development of novel assembly methods that can leverage the complementary strengths of multiple technologies. We propose a hybrid structural variant assembly (HySA) approach that integrates sequencing reads from next-generation sequencing and single-molecule sequencing technologies to accurately assemble and detect structural variations in human genomes...
January 19, 2017: Genome Research
https://www.readbyqxmd.com/read/28103986/-holistic-integrative-medicine-the-road-to-the-future-of-the-development-of-burn-medicine
#11
D M Fan
Holistic integrative medicine is the road to the future of the development of burn medicine. Not only burn medicine, but also human medicine gradually enters the era of holistic integrative medicine. Holistic integrative medicine is different from translational medicine, evidence-based medicine or precision medicine, which integrates the most advanced knowledge and theories in medicine fields with the most effective practices and experiences in clinical specialties to form a new medical system.
January 20, 2017: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
https://www.readbyqxmd.com/read/28103932/biomarkers-of-extracellular-matrix-turnover-are-associated-with-emphysema-and-eosinophilic-bronchitis-in-copd
#12
Asger Reinstrup Bihlet, Morten Asser Karsdal, Jannie Marie Bülow Sand, Diana Julie Leeming, Mustimbo Roberts, Wendy White, Russell Bowler
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by airflow obstruction and loss of lung tissue mainly consisting of extracellular matrix (ECM). Three of the main ECM components are type I collagen, the main constituent in the interstitial matrix, type VI collagen, and elastin, the signature protein of the lungs. During pathological remodeling driven by inflammatory cells and proteases, fragments of these proteins are released into the bloodstream, where they may serve as biomarkers for disease phenotypes...
January 19, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28103873/masquelier-s-grape-seed-extract-from-basic-flavonoid-research-to-a-well-characterized-food-supplement-with-health-benefits
#13
REVIEW
Antje R Weseler, Aalt Bast
Careful characterization and standardization of the composition of plant-derived food supplements is essential to establish a cause-effect relationship between the intake of that product and its health effect. In this review we follow a specific grape seed extract containing monomeric and oligomeric flavan-3-ols from its creation by Jack Masquelier in 1947 towards a botanical remedy and nutraceutical with proven health benefits. The preparation's research history parallels the advancing insights in the fields of molecular biology, medicine, plant and nutritional sciences during the last 70 years...
January 19, 2017: Nutrition Journal
https://www.readbyqxmd.com/read/28103826/tracking-the-origin-of-simultaneous-endometrial-and-ovarian-cancer-by-next-generation-sequencing-a-case-report
#14
Nadejda Valtcheva, Franziska M Lang, Aurelia Noske, Eleftherios P Samartzis, Anna-Maria Schmidt, Elisa Bellini, Daniel Fink, Holger Moch, Markus Rechsteiner, Konstantin J Dedes, Peter J Wild
BACKGROUND: Endometrioid adenocarcinoma of the uterus and ovarian endometrioid carcinoma share many morphological and molecular features. Differentiation between simultaneous primary carcinomas and ovarian metastases of an endometrial cancer may be very challenging but is essential for prognostic and therapeutic considerations. CASE PRESENTATION: In the present case study of a 33 year-old patient we used targeted amplicon next-generation re-sequencing for clarifying the origin of synchronous endometrioid cancer of the corpus uteri and the left ovary...
January 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28102973/precision-medicine-in-copd-are-we-making-it-too-difficult
#15
EDITORIAL
Pim A de Jong, Firdaus Mohamed Hoesein
No abstract text is available yet for this article.
February 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28102861/clinical-utility-of-next-generation-sequencing-for-inherited-bone-marrow-failure-syndromes
#16
Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo Harigae, Shinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima
PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102490/genome-engineering-of-stem-cell-organoids-for-disease-modeling
#17
REVIEW
Yingmin Sun, Qiurong Ding
Precision medicine emerges as a new approach that takes into account individual variability. Successful realization of precision medicine requires disease models that are able to incorporate personalized disease information and recapitulate disease development processes at the molecular, cellular and organ levels. With recent development in stem cell field, a variety of tissue organoids can be derived from patient specific pluripotent stem cells and adult stem cells. In combination with the state-of-the-art genome editing tools, organoids can be further engineered to mimic disease-relevant genetic and epigenetic status of a patient...
January 19, 2017: Protein & Cell
https://www.readbyqxmd.com/read/28102150/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing-study
#18
(no author information available yet)
BACKGROUND: Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS: We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy...
February 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28101128/simultaneous-determination-of-newly-developed-antiviral-agents-in-pharmaceutical-formulations-by-hplc-dad
#19
Nourah Zoman Al-Zoman, Hadir Mohamed Maher, Amal Al-Subaie
BACKGROUND: Ombitasvir/paritaprevir/ritonavir/dasabuvir (Viekira Pak(®)) are the newest medicines approved for use in the treatment of hepatitis C virus (HCV) and are available in tablet form as an oral combination. Specifically, these agents are indicated in the treatment of HCV in patients with genotype 1 infection. Due to the therapeutic importance and increased use of Viekira Pak, proper methods for its determination in bulk and pharmaceutical formulations must be developed. RESULTS: The present study describes the development and validation of a simple, rapid, selective and economical reverse phase high performance liquid chromatography-diode array detection (HPLC-DAD) method for the simultaneous determination of paritaprevir (PAR), ombitasvir (OMB), dasabuvir(DAS) and ritonavir (RIT) in bulk and pharmaceutical preparations...
2017: Chemistry Central Journal
https://www.readbyqxmd.com/read/28100368/-progress-in-precision-medicine-a-scientific-perspective
#20
B Wang, L M Li
Precision medicine is a new strategy for disease prevention and treatment by taking into account differences in genetics, environment and lifestyles among individuals and making precise diseases classification and diagnosis, which can provide patients with personalized, targeted prevention and treatment. Large-scale population cohort studies are fundamental for precision medicine research, and could produce best evidence for precision medicine practices. Current criticisms on precision medicine mainly focus on the very small proportion of benefited patients, the neglect of social determinants for health, and the possible waste of limited medical resources...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
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