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Personalised medicine

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https://www.readbyqxmd.com/read/28812535/associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28733906/the-advanced-diarem-score-improves-prediction-of-diabetes-remission-1%C3%A2-year-post-roux-en-y-gastric-bypass
#8
Judith Aron-Wisnewsky, Nataliya Sokolovska, Yuejun Liu, Doron S Comaneshter, Shlomo Vinker, Tal Pecht, Christine Poitou, Jean-Michel Oppert, Jean-Luc Bouillot, Laurent Genser, Dror Dicker, Jean-Daniel Zucker, Assaf Rudich, Karine Clément
AIMS/HYPOTHESIS: Not all people with type 2 diabetes who undergo bariatric surgery achieve diabetes remission. Thus it is critical to develop methods for predicting outcomes that are applicable for clinical practice. The DiaRem score is relevant for predicting diabetes remission post-Roux-en-Y gastric bypass (RYGB), but it is not accurate for all individuals across the entire spectrum of scores. We aimed to develop an improved scoring system for predicting diabetes remission following RYGB (the Advanced-DiaRem [Ad-DiaRem])...
July 21, 2017: Diabetologia
https://www.readbyqxmd.com/read/28732477/a-web-based-clinical-decision-tool-to-support-treatment-decision-making-in-psychiatry-a-pilot-focus-group-study-with-clinicians-patients-and-carers
#9
Catherine Henshall, Lisa Marzano, Katharine Smith, Mary-Jane Attenburrow, Stephen Puntis, Jakov Zlodre, Kathleen Kelly, Matthew R Broome, Susan Shaw, Alvaro Barrera, Andrew Molodynski, Alastair Reid, John R Geddes, Andrea Cipriani
BACKGROUND: Treatment decision tools have been developed in many fields of medicine, including psychiatry, however benefits for patients have not been sustained once the support is withdrawn. We have developed a web-based computerised clinical decision support tool (CDST), which can provide patients and clinicians with continuous, up-to-date, personalised information about the efficacy and tolerability of competing interventions. To test the feasibility and acceptability of the CDST we conducted a focus group study, aimed to explore the views of clinicians, patients and carers...
July 21, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28723506/biomarkers-for-metastatic-castration-resistant-prostate-cancer-mcrpc-yes-or-no-predictive-and-response-biomarkers-towards-precision-medicine-in-mcrpc
#10
Joaquin Mateo
Advances in drug development and molecular studies for castration-resistant prostate cancer (CRPC) render the possibility of more efficient and precise patient care through the use of predictive, response, and resistance biomarkers. Thorough scrutiny of assay validation and clinical qualification processes for biomarkers in development, ideally in parallel with clinical trials, is critical for the success of personalised medicine in CRPC management.
December 2016: European Urology Focus
https://www.readbyqxmd.com/read/28691371/approaches-to-identify-kinase-dependencies-in-cancer-signalling-networks
#11
REVIEW
Maria Dermit, Arran Dokal, Pedro R Cutillas
Cells integrate extracellular signals into appropriate responses through a complex network of biochemical reactions driven by the activity of protein and lipid kinases, among other proteins. In order to understand this complexity, new approaches, both experimental and computational, have recently been developed with the aim to identify regulatory kinases and infer their activation status in the context of their signalling network. Here, we review such approaches with particular focus on those based on phosphoproteomics...
July 10, 2017: FEBS Letters
https://www.readbyqxmd.com/read/28668378/3d-inkjet-printing-of-tablets-exploiting-bespoke-complex-geometries-for-controlled-and-tuneable-drug-release
#12
Mary Kyobula, Aremu Adedeji, Morgan R Alexander, Ehab Saleh, Ricky Wildman, Ian Ashcroft, Paul R Gellert, Clive J Roberts
A hot melt 3D inkjet printing method with the potential to manufacture formulations in complex and adaptable geometries for the controlled loading and release of medicines is presented. This first use of a precisely controlled solvent free inkjet printing to produce drug loaded solid dosage forms is demonstrated using a naturally derived FDA approved material (beeswax) as the drug carrier and fenofibrate as the drug. Tablets with bespoke geometries (honeycomb architecture) were fabricated. The honeycomb architecture was modified by control of the honeycomb cell size, and hence surface area to enable control of drug release profiles without the need to alter the formulation...
September 10, 2017: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/28650209/the-intestinal-barrier-a-fundamental-role-in-health-and-disease
#13
Maaike Vancamelbeke, Séverine Vermeire
The gastrointestinal mucosa constitutes a critical barrier where millions of microbes and environmental antigens come in close contact with the host immune system. Intestinal barrier defects have been associated with a broad range of diseases and therefore denote a new therapeutic target. Areas covered: This review is based on an extensive literature search in PubMed of how the intestinal barrier contributes to health and as a trigger for disease. It discusses the anatomy of the intestinal barrier and explains the available methods to evaluate its function...
June 26, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28648701/universal-genomic-testing-the-next-step-in-oncological-decision-making-or-a-dead-end-street
#14
Julian Walter Holch, Klaus Hans Metzeler, Andreas Jung, Kristina Riedmann, Philipp Jakob Jost, Wilko Weichert, Thomas Kirchner, Volker Heinemann, Christoph Benedikt Westphalen
The concept of 'personalised medicine' aims at allocating patients to different treatment options based on individual characteristics to optimise treatment benefit and side effects. In oncology, personalised treatments coupled to biomarkers have led to the approval of targeted agents with high anti-tumour activity. However, these therapies are often limited to narrow, molecularly defined subsets of patients with a specific morphomolecular tumour profile. Recently, it became obvious that the same molecular alteration might drive oncogenesis in many different tumours, and it might be beneficial to target the alteration in a histology informed but entity-overarching way...
September 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28642172/egfr-t790m-ctdna-testing-platforms-and-their-role-as-companion-diagnostics-correlation-with-clinical-outcomes-to-egfr-tkis
#15
Zhiyong Liang, Ying Cheng, Yuan Chen, Yanping Hu, Wei-Ping Liu, You Lu, Jie Wang, Ye Wang, Gang Wu, Jian-Ming Ying, He-Long Zhang, Xu-Chao Zhang, Yi-Long Wu
Somatic mutation in the epidermal growth factor receptor (EGFR) predict clinical response to EGFR tyrosine kinase inhibitors in non-small cell lung cancer (NSCLC) and is a promising target for personalised medicine. EGFR mutations have prognostic value. Initially patients respond well to tyrosine kinase inhibitors but finally they would develop resistance and about 50% of this resistance can be attributed to the emergence of EGFR resistant mutation, T790M. This necessitates the need for genetic testing for clinical management of patients...
September 10, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28639146/in-vivo-visualisation-and-quantification-of-bone-resorption-and-bone-formation-from-time-lapse-imaging
#16
REVIEW
Patrik Christen, Ralph Müller
PURPOSE OF REVIEW: Mechanoregulation of bone cells was proposed over a century ago, but only now can we visualise and quantify bone resorption and bone formation and its mechanoregulation. In this review, we show how the newest advances in imaging and computational methods paved the way for this breakthrough. RECENT FINDINGS: Non-invasive in vivo assessment of bone resorption and bone formation was demonstrated by time-lapse micro-computed tomography in animals, and by high-resolution peripheral quantitative computed tomography in humans...
August 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28620441/impaired-wound-healing-facts-and-hypotheses-for-multi-professional-considerations-in-predictive-preventive-and-personalised-medicine
#17
REVIEW
Eden Avishai, Kristina Yeghiazaryan, Olga Golubnitschaja
Whereas the physiologic wound healing (WH) successfully proceeds through the clearly defined sequence of the individual phases of wound healing, chronic non-healing wounds/ulcers fail to complete the individual stages and the entire healing process. There are many risk factors both modifiable (such as stress, smoking, inappropriate alcohol consumption, malnutrition, obesity, diabetes, cardio-vascular disease, etc.) and non-modifiable (such as genetic diseases and ageing) strongly contributing to the impaired WH...
March 2017: EPMA Journal
https://www.readbyqxmd.com/read/28619004/albumin-nanocarriers-%C3%AE-irradiated-crosslinked-combined-with-therapeutic-drugs-for-cancer-therapy
#18
Macarena Siri, Estefanía Achilli, Mariano Grasselli, Silvia Del V Alonso
Albumin polymeric Nanoparticles (NPs) have opened a great expectancy as for controlled drug delivery due to their therapeutic potency. Concomitantly biodegradable NPs technologies with target linked structures to pave the way of personalised medicine are becoming increasingly important in sight of a therapeutically effective research technology. This is particularly attractive for nanoparticle-based cancer delivery systems, based on the known limitations and efforts to overcome. This new group of gamma irradiated-NPs inherited both the protein delivery properties and robustness of polymer forming structures, and gamma irradiation techniques that leave clean, innocuous and biodegradable NPs...
June 15, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28588112/the-hoorn-diabetes-care-system-dcs-cohort-a-prospective-cohort-of-persons-with-type-2-diabetes-treated-in-primary-care-in-the-netherlands
#19
Amber Awa van der Heijden, Simone P Rauh, Jacqueline M Dekker, Joline W Beulens, Petra Elders, Leen M 't Hart, Femke Rutters, Nienke van Leeuwen, Giel Nijpels
PURPOSE: People with type 2 diabetes (T2D) have a doubled morbidity and mortality risk compared with persons with normal glucose tolerance. Despite treatment, clinical targets for cardiovascular risk factors are not achieved. The Hoorn Diabetes Care System cohort (DCS) is a prospective cohort representing a comprehensive dataset on the natural course of T2D, with repeated clinical measures and outcomes. In this paper, we describe the design of the DCS cohort. PARTICIPANTS: The DCS consists of persons with T2D in primary care from the West-Friesland region of the Netherlands...
June 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28566086/the-genetics-of-gout-towards-personalised-medicine
#20
REVIEW
Nicola Dalbeth, Lisa K Stamp, Tony R Merriman
Over the last decade, there have been major advances in the understanding of the genetic basis of hyperuricaemia and gout as well as of the pharmacogenetics of urate-lowering therapy. Key findings include the reporting of 28 urate-associated loci, the discovery that ABCG2 plays a central role on extra-renal uric acid excretion, the identification of genes associated with development of gout in the context of hyperuricaemia, recognition that ABCG2 variants influence allopurinol response, and the impact of HLA-B*5801 testing in reducing the prevalence of allopurinol hypersensitivity in high-risk populations...
May 31, 2017: BMC Medicine
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