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Personalised medicine

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https://www.readbyqxmd.com/read/28898251/hba1c-for-type-2-diabetes-diagnosis-in-africans-and-african-americans-personalized-medicine-now
#1
Andrew D Paterson
Andrew Paterson discusses findings from a new study that shows HbA1c screening for diabetes will leave 2% of African Americans undiagnosed and how personalised medicine is needed.
September 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28892404/mechanisms-underlying-metabolic-disturbances-associated-with-psychosis-and-antipsychotic-drug-treatment
#2
Gavin P Reynolds, Olga O McGowan
The increase in cardiovascular disease and reduced life expectancy in schizophrenia likely relate to an increased prevalence of metabolic disturbances. Such metabolic risk factors in schizophrenia may result from both symptom-related effects and aetiological factors. However, a major contributory factor is that of treatment with antipsychotic drugs. These drugs differ in effects on body weight; the underlying mechanisms are not fully understood and may vary between drugs, but may include actions at receptors associated with the hypothalamic control of food intake...
August 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28889086/the-notch-3-receptor-a-molecular-switch-to-tumorigenesis
#3
REVIEW
Shakeel Inder, Sinead O'Rourke, Niamh McDermott, Rustom Manecksha, Stephen Finn, Thomas Lynch, Laure Marignol
The Notch pathway is a highly conserved pathway increasingly implicated with the progression of human cancers. Of the four existing receptors associated with the pathway, the deregulation in the expression of the Notch-3 receptor is associated with more aggressive disease and poor prognosis. Selective targeting of this receptor has the potential to enhance current anti-cancer treatments. Molecular profiling strategies are increasingly incorporated into clinical decision making. This review aims to evaluate the clinical potential of Notch-3 within this new era of personalised medicine...
September 1, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/28865260/societal-challenges-of-precision-medicine-bringing-order-to-chaos
#4
Roberto Salgado, Helen Moore, John W M Martens, Tracy Lively, Shakun Malik, Ultan McDermott, Stefan Michiels, Jeffrey A Moscow, Sabine Tejpar, Tawnya McKee, Denis Lacombe
The increasing number of drugs targeting specific proteins implicated in tumourigenesis and the commercial promotion of relatively affordable genome-wide analyses has led to an increasing expectation among patients with cancer that they can now receive effective personalised treatment based on the often complex genomic signature of their tumour. For such approaches to work in routine practice, the development of correspondingly complex biomarker assays through an appropriate and rigorous regulatory framework will be required...
August 30, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28864056/classification-of-patients-with-sepsis-according-to-blood-genomic-endotype-a-prospective-cohort-study
#5
Brendon P Scicluna, Lonneke A van Vught, Aeilko H Zwinderman, Maryse A Wiewel, Emma E Davenport, Katie L Burnham, Peter Nürnberg, Marcus J Schultz, Janneke Horn, Olaf L Cremer, Marc J Bonten, Charles J Hinds, Hector R Wong, Julian C Knight, Tom van der Poll
BACKGROUND: Host responses during sepsis are highly heterogeneous, which hampers the identification of patients at high risk of mortality and their selection for targeted therapies. In this study, we aimed to identify biologically relevant molecular endotypes in patients with sepsis. METHODS: This was a prospective observational cohort study that included consecutive patients admitted for sepsis to two intensive care units (ICUs) in the Netherlands between Jan 1, 2011, and July 20, 2012 (discovery and first validation cohorts) and patients admitted with sepsis due to community-acquired pneumonia to 29 ICUs in the UK (second validation cohort)...
August 29, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28856081/genetic-factors-influencing-drug-induced-liver-injury-do-they-have-a-role-in-prevention-and-diagnosis
#6
REVIEW
Kathleen E Clare, Michael H Miller, John F Dillon
PURPOSE OF REVIEW: The pathogenesis of DILI is currently unknown; however, research has shown strong genetic associations with some DILIs. This paper describes the variant alleles uncovered by GWAS and discusses their potential role as susceptibility biomarkers. RECENT FINDINGS: An association with HLADRB1*15:01 and amoxicillin/clavulanate DILI has been shown by a number of research groups. The presence of the HLA-B*57:01 allele has been associated with an 81-fold increased risk of flucloxacillin DILI...
2017: Current Hepatology Reports
https://www.readbyqxmd.com/read/28855099/epigenetics-in-chronic-liver-disease
#7
REVIEW
Marie Boyle, Jelena Mann
Elucidation of the fundamental epigenetic mechanisms governing gene expression and cellular phenotype in the past decade has provided novel insights into the epigenetic modulation of chronic liver disease. While genetic factors are undoubtedly important, the opportunity afforded by exploitation of the "fine-tuning" epigenetic mechanisms promises to drive forward an unprecedented advance in precision medicine within hepatology. The current challenges remain to improve diagnostics, prognostics and develop personalised therapy...
August 27, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28846956/hypermutated-tumours-in-the-era-of-immunotherapy-the-paradigm-of-personalised-medicine
#8
REVIEW
Laetitia Nebot-Bral, David Brandao, Loic Verlingue, Etienne Rouleau, Olivier Caron, Emmanuelle Despras, Yolla El-Dakdouki, Stéphane Champiat, Said Aoufouchi, Alexandra Leary, Aurélien Marabelle, David Malka, Nathalie Chaput, Patricia L Kannouche
Immune checkpoint inhibitors have demonstrated unprecedented clinical activity in a wide range of cancers. Significant therapeutic responses have recently been observed in patients presenting mismatch repair-deficient (MMRD) tumours. MMRD cancers exhibit a remarkably high rate of mutations, which can result in the formation of neoantigens, hypothesised to enhance the antitumour immune response. In addition to MMRD tumours, cancers mutated in the exonuclease domain of the catalytic subunit of the DNA polymerase epsilon (POLE) also exhibit an ultramutated genome and are thus likely to benefit from immunotherapy...
August 24, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28841542/high-depth-sequencing-of-paired-primary-and-metastatic-tumours-implications-for-personalised-medicine
#9
T Grellety, C Lucchesi, I Hostein, C Auzanneau, E Khalifa, I Soubeyran, A Italiano
BACKGROUND: Next-generation sequencing of large panel of genes had been associated with clinical benefit in a significant proportion of patients with advanced cancer. However, the molecular profile of the primary tumour from the initial surgical specimen might significantly differ from the molecular profile in a tumour sample obtained from a biopsy of a metastatic site. PATIENTS AND METHODS: We compare the genetic profile of primary tumours and paired metastases by using a large panel of cancer genes...
August 22, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28840558/the-power-of-zebrafish-in-personalised-medicine
#10
Sarah Baxendale, Freek van Eeden, Robert Wilkinson
The goal of personalised medicine is to develop tailor-made therapies for patients in whom currently available therapeutics fail. This approach requires correlating individual patient genotype data to specific disease phenotype data and using these stratified data sets to identify bespoke therapeutics. Applications for personalised medicine include common complex diseases which may have multiple targets, as well as rare monogenic disorders, for which the target may be unknown. In both cases, whole genome sequence analysis (WGS) is discovering large numbers of disease associated mutations in new candidate genes and potential modifier genes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28840557/personalised-medicine-genome-maintenance-lessons-learned-from-studies-in-yeast-as-a-model-organism
#11
Arwa A Abugable, Dahlia A Awwad, Dalia Fleifel, Mohamed M Ali, Sherif El-Khamisy, Menattallah Elserafy
Yeast research has been tremendously contributing to the understanding of a variety of molecular pathways due to the ease of its genetic manipulation, fast doubling time as well as being cost-effective. The understanding of these pathways did not only help scientists learn more about the cellular functions but also assisted in deciphering the genetic and cellular defects behind multiple diseases. Hence, yeast research not only opened the doors for transforming basic research into applied research, but also paved the roads for improving diagnosis and innovating personalized therapy of different diseases...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28840549/approaches-for-identifying-novel-targets-in-precision-medicine-lessons-from-dna-repair
#12
Dean T Williams, Christopher J Staples
Genome stability is maintained by a number of elegant mechanisms, which sense and repair damaged DNA. Germline defects that compromise genomic integrity result in cancer predisposition, exemplified by rare syndromes caused by mutations in certain DNA repair genes. These individuals often exhibit other symptoms including progeria and neurodegeneration. Paradoxically, some of these deleterious genetic alterations provide novel therapeutic opportunities to target cancer cells; an excellent example of such an approach being the recent development of poly (ADP-ribose) polymerase inhibitors as the first 'synthetic lethal' medicine for patients with BRCA-mutant cancers...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28820484/platelet-aggregometry-testing-molecular-mechanisms-techniques-and-clinical-implications
#13
REVIEW
Katalin Koltai, Gabor Kesmarky, Gergely Feher, Antal Tibold, Kalman Toth
Platelets play a fundamental role in normal hemostasis, while their inherited or acquired dysfunctions are involved in a variety of bleeding disorders or thrombotic events. Several laboratory methodologies or point-of-care testing methods are currently available for clinical and experimental settings. These methods describe different aspects of platelet function based on platelet aggregation, platelet adhesion, the viscoelastic properties during clot formation, the evaluation of thromboxane metabolism or certain flow cytometry techniques...
August 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28812535/associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#14
Henry J Martell, Kathie A Wong, Juan F Martin, Ziyan Kassam, Kay Thomas, Mark N Wass
BACKGROUND: Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the disease disrupt amino acid transport across the cell membrane, leading to the build-up of relatively insoluble cystine, resulting in formation of stones. Assessing the effects of each mutation is critical in order to provide tailored treatment options for patients...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28807350/one-strategy-does-not-fit-all-the-era-of-personalised-medicine-for-the-treatment-of-male-lower-urinary-tract-symptoms-is-upon-us
#15
EDITORIAL
Rebecca L Tregunna, Paul Cathcart, Matthew F Bultitude
No abstract text is available yet for this article.
August 11, 2017: European Urology
https://www.readbyqxmd.com/read/28805797/human-genomics-projects-and-precision-medicine
#16
REVIEW
F Carrasco-Ramiro, R Peiró-Pastor, B Aguado
The completion of the Human Genome Project (HGP) in 2001 opened the floodgates to a deeper understanding of medicine. There are dozens of HGP-like projects which involve from a few tens to several million genomes currently in progress, which vary from having specialised goals or a more general approach. However, data generation, storage, management and analysis in public and private cloud computing platforms have raised concerns about privacy and security. The knowledge gained from further research has changed the field of genomics and is now slowly permeating into clinical medicine...
August 14, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28798813/personalising-your-health-an-eu-imperative
#17
EDITORIAL
Denis Horgan
In the fast-moving world of personalised medicine there are many issues and barriers-not least when it comes to getting novel drugs and treatments swiftly to where they are really needed. Slow bench-to-bedside rates do not help the 500 million potential patients across the EU's current 28 Member States, and the timings are affected by several elements during the development and licensing phases. As we all know, personalised medicine starts with the patient. It holds huge potential for improving the health of many patients and ensuring better outcomes for health systems' efficiency and transparency...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28793377/are-characteristics-of-team-members-important-for-quality-management-of-chronic-patients-at-primary-care-level
#18
Zalika Klemenc-Ketis, Antonija Poplas-Susič
AIMS AND OBJECTIVES: We wanted to determine the possible associations between higher levels of selected quality indicators and the characteristics of providers. BACKGROUND: In 2011, an ongoing project on a new model of family medicine practice was launched in Slovenia; the a family physicians' working team (a family physician and a practice nurse), was extended by a nurse practitioner working 0.5 full-time equivalents. This was an example of a personalised team approach to managing chronic patients...
August 9, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28756429/interacting-with-genomic-data-clinician-requirements-and-prototype-structure
#19
Dana Bradford, Shlomo Berkovsky, Melissa Martyn, Tim Bakkar, Martin Krahnert, Michelle Rodriguez, Denis Bauer, Derek Ireland, Clara Gaff
Healthcare is currently being transformed by the introduction of genomic sequencing - a major advancement in personalised medicine. This advent provides new opportunities for clinicians to use genomic data in decision making about patient diagnosis and treatment, but this can only be achieved through access to data and support in its use. Engaging with clinicians in the development of decision support tools will optimise relevance and adoption of genomic sequencing in healthcare. In this study, existing data from clinician workshops and interviews together with horizon scanning of relevant technologies were used to define clinician portal specifications...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28750894/patient-acceptability-of-3d-printed-medicines
#20
Alvaro Goyanes, Mariagiovanna Scarpa, Michael Kamlow, Simon Gaisford, Abdul W Basit, Mine Orlu
Patient-centric medicine is a derivative term for personalised medicine, whereby the pharmaceutical product provides the best overall benefit by meeting the comprehensive needs of the individual; considering the end-user from the beginning of the formulation design process right through development to an end product is a must. One way in which to obtain personalised medicines, on-site and on-demand is by three-dimensional printing (3DP). The aim of this study was to investigate the influence of the shape, size and colour of different placebo 3D printed tablets (Printlets™) manufactured by fused deposition modelling (FDM) 3DP on end-user acceptability regarding picking and swallowing...
July 24, 2017: International Journal of Pharmaceutics
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