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https://www.readbyqxmd.com/read/28438193/pathos-a-decision-support-system-for-reporting-high-throughput-sequencing-of-cancers-in-clinical-diagnostic-laboratories
#1
Kenneth D Doig, Andrew Fellowes, Anthony H Bell, Andrei Seleznev, David Ma, Jason Ellul, Jason Li, Maria A Doyle, Ella R Thompson, Amit Kumar, Luis Lara, Ravikiran Vedururu, Gareth Reid, Thomas Conway, Anthony T Papenfuss, Stephen B Fox
BACKGROUND: The increasing affordability of DNA sequencing has allowed it to be widely deployed in pathology laboratories. However, this has exposed many issues with the analysis and reporting of variants for clinical diagnostic use. Implementing a high-throughput sequencing (NGS) clinical reporting system requires a diverse combination of capabilities, statistical methods to identify variants, global variant databases, a validated bioinformatics pipeline, an auditable laboratory workflow, reproducible clinical assays and quality control monitoring throughout...
April 24, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28421338/tailoring-pharmacotherapy-to-specific-eating-behaviours-in-obesity-can-recommendations-for-personalised-therapy-be-made-from-the-current-data
#2
Carl A Roberts, Paul Christiansen, Jason C G Halford
Pharmacotherapy provides an adjunct to behaviour modification in the management of obesity. There are a number of new drug therapies purportedly targeting appetite; liraglutide, and bupropion/naltrexone, which are European Medicines Agency and US Food and Drug Administration (FDA) approved, and lorcaserin and phentermine/topiramate, which have FDA approval only. Each of the six drugs, used singly or in combination, has distinct pharmacological, and presumably distinct behavioural, mechanisms of action, thus the potential to provide defined therapeutic options to personalise the management of obesity...
April 19, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28416025/healthcare-innovation-and-patent-law-s-pharmaceutical-privilege-is-there-a-pharmaceutical-privilege-and-if-so-should-we-remove-it
#3
Graham Dutfield
This article reviews current trends in patent claims regarding personalised, stratified and precision medicine. These trends are not particularly well understood by policymakers, even less by the public, and are quite recent. Consequently, their implications for the public interest have hardly been thought out. Some see personalised and other secondary drug patent claims as promoting better targeted treatment. Others are inclined to see them as \manifestations of 'evergreening' whereby companies are, in some cases quite cynically, trying to extend market monopolies in old products or creating new monopolies based on supposedly improved versions of such earlier drugs...
April 18, 2017: Health Economics, Policy, and Law
https://www.readbyqxmd.com/read/28405691/-customised-early-mobilisation-how-about-a%C3%A2-little-bit-more
#4
S Nessizius
Early mobilisation of patients in intensive care starts in a multiprofessional team with passive techniques continuing with assistive measures and finally going on to active training including mobilisation leading to sitting and standing positions as well as walking. Positive effects regarding these procedures have been proved in numerous studies and can also be found in the revision of the S2e guideline "Positioning and early mobilisation in prophylaxis or therapy of pulmonary disorders". In order to work with regard to the resources of the patient in intensive care, of the multiprofessional team, of the ward-specific structures and of the used equipment it is vital to apply a customised mobilisation concept...
April 12, 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28404137/genetics-of-inflammatory-bowel-disease-beyond-nod2
#5
REVIEW
Maša Umićević Mirkov, Bram Verstockt, Isabelle Cleynen
The study of the genetic underpinnings of inflammatory bowel disease has made great progress since the identification of NOD2 as a major susceptibility gene. Novel genotyping and sequencing technologies have led to the discovery of 242 common susceptibility loci, 45 of which have been fine-mapped to statistically conclusive causal variants; 50 genes associated with very-early-onset inflammatory disease have been identified. The evolving genetic architecture of inflammatory bowel disease has deepened our understanding of its pathogenesis through identification of major disease associated pathways-knowledge that has the potential to indicate novel drug targets or markers for personalised medicine...
March 2017: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#6
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28376771/ehealth-in-the-future-of-medications-management-personalisation-monitoring-and-adherence
#7
EDITORIAL
Josip Car, Woan Shin Tan, Zhilian Huang, Peter Sloot, Bryony Dean Franklin
BACKGROUND: Globally, healthcare systems face major challenges with medicines management and medication adherence. Medication adherence determines medication effectiveness and can be the single most effective intervention for improving health outcomes. In anticipation of growth in eHealth interventions worldwide, we explore the role of eHealth in the patients' medicines management journey in primary care, focusing on personalisation and intelligent monitoring for greater adherence. DISCUSSION: eHealth offers opportunities to transform every step of the patient's medicines management journey...
April 5, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28369064/the-uk-pharmacy-care-plan-service-description-recruitment-and-initial-views-on-a-new-community-pharmacy-intervention
#8
Michael J Twigg, David Wright, Charlotte L Kirkdale, James A Desborough, Tracey Thornley
INTRODUCTION: The UK government advocates person-centred healthcare which is ideal for supporting patients to make appropriate lifestyle choices and to address non-adherence. The Community Pharmacy Future group, a collaboration between community pharmacy companies and independents in the UK, introduced a person-centred service for patients with multiple long-term conditions in 50 pharmacies in Northern England. OBJECTIVE: Describe the initial findings from the set up and delivery of a novel community pharmacy-based person-centred service...
2017: PloS One
https://www.readbyqxmd.com/read/28365182/hopes-and-disappointments-with-antiarrhythmic-drugs
#9
A John Camm
Ventricular arrhythmias such as sustained ventricular tachycardia and ventricular fibrillation account for two thirds of sudden cardiac deaths. Most ventricular tachyarrhythmias have well understood mechanisms such that it is theoretically possible to conceive of an antiarrhythmic drug-based intervention that would prevent arrhythmias that cause sudden cardiac death. Pharmaceutical agents which interfere with ion channel activity are known as antiarrhythmic drugs. Acute experiments showing antiarrhythmic effects in the basic science laboratory have often not translated into clinical effectiveness...
March 16, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28363849/unravelling-the-genetics-of-inherited-retinal-dystrophies-past-present-and-future
#10
REVIEW
Suzanne Broadgate, Jing Yu, Susan M Downes, Stephanie Halford
The identification of the genes underlying monogenic diseases has been of interest to clinicians and scientists for many years. Using inherited retinal dystrophies as an example of monogenic disease we describe the history of molecular genetic techniques that have been pivotal in the discovery of disease causing genes. The methods that were developed in the 1970's and 80's are still in use today but have been refined and improved. These techniques enabled the concept of the Human Genome Project to be envisaged and ultimately realised...
March 29, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28361558/mining-the-fecal-proteome-from-biomarkers-to-personalised-medicine
#11
Ping Jin, Kui Wang, Canhua Huang, Edouard C Nice
Fecal proteomics has gained increased prominence in recent years. It can provide insights into the diagnosis and surveillance of many bowel diseases by both identifying potential biomarkers in stool samples and helping identify disease-related pathways. Fecal proteomics has already shown its potential for the discovery and validation of biomarkers for colorectal cancer screening, and the analysis of fecal microbiota by MALDI-MS for the diagnosis of a range of bowel diseases is gaining clinical acceptance. Areas covered: Based on a comprehensive analysis of the current literature, we introduce the range of sensitive and specific proteomics methods which comprise the current 'Proteomics Toolbox', explain how the integration of fecal proteomics with data processing/bioinformatics has been used for the identification of potential biomarkers for both CRC and other gut-related pathologies and analysis of the fecal microbiome, outline some of the current fecal assays in current clinical practice and introduce the concept of personalised medicine which these technologies will help inform...
April 10, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28361333/in-the-pursuit-of-methotrexate-treatment-response-biomarker-in-juvenile-idiopathic-arthritis-are-we-getting-closer-to-personalised-medicine
#12
REVIEW
Justyna Roszkiewicz, Elzbieta Smolewska
PURPOSE OF REVIEW: Methotrexate (MTX) is the most widely used disease-modifying antirheumatic drug (DMARD) in paediatric rheumatology and the mainstay in the therapy of juvenile idiopathic arthritis (JIA). Despite its common use, about 30% of children fail to respond to this medicine that results in potentially irreversible joint damage. RECENT FINDINGS: No clinical biomarker that would predict the outcome of MTX therapy exists. Results of several studies focused on gene polymorphisms and outcome of this DMARD therapy have been published, but no reliable genetic marker useful to tailor the therapy has been discovered so far...
April 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28351850/paradoxes-and-personalised-medicine-from-preseason-to-post-diagnosis
#13
EDITORIAL
Jane S Thornton
No abstract text is available yet for this article.
April 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28321318/does-the-model-of-additive-effect-in-placebo-research-still-hold-true-a-narrative-review
#14
Katja Boehm, Bettina Berger, Ulrich Weger, Peter Heusser
Personalised and contextualised care has been turned into a major demand by people involved in healthcare suggesting to move toward person-centred medicine. The assessment of person-centred medicine can be most effectively achieved if treatments are investigated using 'with versus without' person-centredness or integrative study designs. However, this assumes that the components of an integrative or person-centred intervention have an additive relationship to produce the total effect. Beecher's model of additivity assumes an additive relation between placebo and drug effects and is thus presenting an arithmetic summation...
March 2017: JRSM Open
https://www.readbyqxmd.com/read/28315634/comparing-mutation-calls-in-fixed-tumour-samples-between-the-affymetrix-oncoscan%C3%A2-array-and-pcr-based-next-generation-sequencing
#15
Henry M Wood, Joseph M Foster, Morag Taylor, Emma Tinkler-Hundal, Fiona S Togneri, Paula Wojtowicz, Assa Oumie, Karen G Spink, Fiona Brew, Philip Quirke
BACKGROUND: The importance of accurate and affordable mutation calling in fixed pathology samples is becoming increasingly important as we move into the era of personalised medicine. The Affymetrix OncoScan® Array platform is designed to produce actionable mutation calls in archival material. METHODS: We compared calls made using the OncoScan platform with calls made using a custom designed PCR panel followed by next-generation sequencing (NGS), in order to benchmark the sensitivity and specificity of the OncoScan calls in a large cohort of fixed tumour samples...
March 18, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28287876/crispr-cas9-from-a-bacterial-immune-system-to-genome-edited-human-cells-in-clinical-trials
#16
Leonhard Kick, Marion Kirchner, Sabine Schneider
The adaptive bacterial immune system CRISPR-Cas is revolutionizing all fields of life science and has opened up new frontiers toward personalised medicine. Since the elucidation of the molecular mechanism of Cas9 from Streptococcus pyogenes in 2012 and its development as a genomic engineering tool, genetic modifications in more than 40 species have been performed, over 290 patents have been filed worldwide and the first clinical trials using CRISPR-Cas-modified T-cells have recently been started in China and in the US...
March 13, 2017: Bioengineered
https://www.readbyqxmd.com/read/28283684/pharmacogenetics-in-type-2-diabetes-precision-medicine-or-discovery-tool
#17
REVIEW
Jose C Florez
In recent years, technological and analytical advances have led to an explosion in the discovery of genetic loci associated with type 2 diabetes. However, their ability to improve prediction of disease outcomes beyond standard clinical risk factors has been limited. On the other hand, genetic effects on drug response may be stronger than those commonly seen for disease incidence. Pharmacogenetic findings may aid in identifying new drug targets, elucidate pathophysiology, unravel disease heterogeneity, help prioritise specific genes in regions of genetic association, and contribute to personalised or precision treatment...
March 10, 2017: Diabetologia
https://www.readbyqxmd.com/read/28266713/personalised-dosing-of-medicines-for-children
#18
REVIEW
Basma Al-Metwali, Hussain Mulla
OBJECTIVES: Doses for most drugs are determined from population-level information, resulting in a standard ?one-size-fits-all' dose range for all individuals. This review explores how doses can be personalised through the use of the individuals' pharmacokinetic (PK)-pharmacodynamic (PD) profile, its particular application in children, and therapy areas where such approaches have made inroads. KEY FINDINGS: The Bayesian forecasting approach, based on population PK/PD models that account for variability in exposure and response, is a potent method for personalising drug therapy...
March 7, 2017: Journal of Pharmacy and Pharmacology
https://www.readbyqxmd.com/read/28266147/intelligence-based-anti-doping-from-an-equine-biological-passport
#19
Adam T Cawley, John Keledjian
The move towards personalized medicine derived from individually focused clinical chemistry measurements has been translated by the human anti-doping movement over the past decade into developing the athlete biological passport. There is considerable potential for animal sports to adapt this model to facilitate an intelligence-based anti-doping system. Copyright © 2017 John Wiley & Sons, Ltd.
March 7, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28261962/an-overview-of-the-therapeutic-potential-of-regenerative-medicine-in-cutaneous-wound-healing
#20
REVIEW
Calver Pang, Amel Ibrahim, Neil W Bulstrode, Patrizia Ferretti
The global burden of disease associated with wounds is an increasingly significant public health concern. Current treatments are often expensive, time-consuming and limited in their efficacy in chronic wounds. The challenge of overcoming current barriers associated with wound care requires innovative management techniques. Regenerative medicine is an emerging field of research that focuses on the repair, replacement or regeneration of cells, tissues or organs to restore impaired function. This article provides an overview of the pathophysiology of wound healing and reviews the latest evidence on the application of the principal components of regenerative medicine (growth factors, stem cell transplantation, biomaterials and tissue engineering) as therapeutic targets...
March 6, 2017: International Wound Journal
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