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Personalised medicine

Wolfgang Kuchinke, Christian Krauth, René Bergmann, Töresin Karakoyun, Astrid Woollard, Irene Schluender, Benjamin Braasch, Martin Eckert, Christian Ohmann
BACKGROUND: In an unprecedented rate data in the life sciences is generated and stored in many different databases. An ever increasing part of this data is human health data and therefore falls under data protected by legal regulations. As part of the BioMedBridges project, which created infrastructures that connect more than 10 ESFRI research infrastructures (RI), the legal and ethical prerequisites of data sharing were examined employing a novel and pragmatic approach. METHODS: We employed concepts from computer science to create legal requirement clusters that enable legal interoperability between databases for the areas of data protection, data security, Intellectual Property (IP) and security of biosample data...
July 7, 2016: BMC Medical Informatics and Decision Making
Tahseen A Chowdhury, Paul Grant
Optimal management of diabetes involves a multidisciplinary approach. Prioritisation of lifestyle change, blood pressure and lipid control, and regular screening for complications are advocated in most international guidelines. Good glucose control, however, remains an important aim of treatment, although it is increasingly recognised that glucose targets should be individualised, with less stringent targets for older patients with significant comorbidities.In recent years, a number of newer therapies for hyperglycaemia have become available...
October 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
Lesley Henderson, Simon Carter
There has been considerable interest in images of medicine in popular science fiction and in representations of doctors in television fiction. Surprisingly little attention has been paid to doctors administering space medicine in science fiction. This article redresses this gap. We analyse the evolving figure of 'the doctor' in different popular science fiction television series. Building upon debates within Medical Sociology, Cultural Studies and Media Studies we argue that the figure of 'the doctor' is discursively deployed to act as the moral compass at the centre of the programme narrative...
September 30, 2016: Medical Humanities
D R J Singer
No abstract text is available yet for this article.
October 6, 2016: Clinical Therapeutics
Arie Gafson, Matt J Craner, Paul M Matthews
Treatments with a range of efficacy and risk of adverse events have become available for the management of multiple sclerosis (MS). However, now the heterogeneity of clinical expression and responses to treatment pose major challenges to improving patient care. Selecting and managing the drug best balancing benefit and risk demands a new focus on the individual patient. Personalised medicine for MS is based on improving the precision of diagnosis for each patient in order to capture prognosis and provide an evidence-based framework for predicting treatment response and personalising patient monitoring...
September 26, 2016: Multiple Sclerosis: Clinical and Laboratory Research
Sara J Brown
Atopic eczema (synonymous with atopic dermatitis and eczema) is a common heterogeneous phenotype with a wide spectrum of severity from mild transient disease to a severe chronic disorder with atopic and non-atopic co-morbidities. Eczema is a complex trait, resulting from the interaction of multiple genetic and environmental factors. The skin, as an organ that can be biopsied easily, provides opportunities for detailed molecular genetic analysis. Strategies applied to the investigation of atopic eczema include candidate gene and genome-wide studies, extreme phenotypes and comparative analysis of inflammatory skin diseases...
September 23, 2016: Journal of Pathology
Marianne Pavel, Christine Sers
Neuroendocrine tumors (NET) are a group of heterogenous neoplasms. Evidence-based treatment options for antiproliferative therapy include somatostatin analogs, the mTOR inhibitor everolimus, the multiple tyrosine kinase inhibitor sunitinib and peptide receptor radionuclide therapy with 177-Lu-octreotate. In the absence of definite predictive markers therapeutic decision making follows clinical and pathological criteria. Since objective reponse rates with targeted drugs are rather low, and response duration is limited in most patients, numerous combination therapies targeting multiple pathways have been explored in the field...
September 20, 2016: Endocrine-related Cancer
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
Vid Mlakar, Patricia Huezo-Diaz Curtis, Chakradhara Rao Satyanarayana Uppugunduri, Maja Krajinovic, Marc Ansari
During the 3rd congress of the European Society of Pharmacogenomics and Personalised Therapy (ESPT) in Budapest in 2015, a preliminary meeting was held aimed at establishing a pediatric individualized treatment in oncology and hematology committees. The main purpose was to facilitate the transfer and harmonization of pharmacogenetic testing from research into clinics, to bring together basic and translational research and to educate health professionals throughout Europe. The objective of this review was to provide the attendees of the meeting as well as the larger scientific community an insight into the compiled evidence regarding current pharmacogenomics knowledge in pediatric oncology...
2016: International Journal of Molecular Sciences
Nicola Nicolai, Annalisa Trama
No abstract text is available yet for this article.
September 7, 2016: European Urology
Deborah L Clarke, Lynne A Murray, Bruno Crestani, Matthew A Sleeman
Idiopathic pulmonary fibrosis (IPF) is a chronic fibrosing interstitial pneumonia of unknown cause, characterised by progressive worsening in lung function and dyspnoea with an associated prognosis similar to or worse than many cancers. As a better understanding emerges around the pathogenesis and mechanisms driving disease pathology, a host of novel agents are being tested both pre-clinically and clinically. However even with this deeper understanding and positive pre-clinical supportive data, negative trial outcomes are frequently reported, highlighting the problems faced in treating such a heterogeneous disease with a varied clinical course...
September 13, 2016: Pharmacology & Therapeutics
Richard Schilsky, Will Davies
The Worldwide Innovative Networking (WIN) consortium is an alliance of academic institutions, pharmaceutical partners, representatives from technology companies and charitable/health payer organisations from across the globe. For the last six years, the consortium's aims have been to foster communication and collaboration between members, encourage dialogue in an open forum, and deliver clinical trial results that improve the care and outcomes of patients with cancer using the latest advances in genomic-based medicine...
2016: Ecancermedicalscience
Tess Pallister, Tim D Spector
Filling in the knowledge gaps between what we eat and the diseases we develop may lie in our guts, literally. The human large intestine houses the largest reservoir of microorganisms in or on the human body. With a 100-fold greater gene count than humans, the gut microbiome has huge potential to place a large metabolic burden (or advantage) on its host. The number of diverse gut microbial species is diminished in nearly all modern chronic conditions studied. The 'Western diet', rich in animal protein, fats and artificial additives, and lacking in fibre, beneficial microbes, plant phytochemicals, vitamins and minerals, is thought to drive these conditions by encouraging gut dysbiosis...
September 2016: Journal of the Royal Society of Medicine
Hallam Stevens
BACKGROUND: The nineteenth century saw the rise of what historians of medicine have termed the 'medical gaze'. Physicians used instrumentation and trained senses to locate the site of disease within the patient's body. This change in practice went alongside changes in the physician's power and how diseases were understood. In the twenty-first century, the rise of high-throughput biomedical experiments, especially in genomics, is leading to equally dramatic shifts in medicine. Increasingly, clinical decisions may be made on the basis of data and statistical associations rather than the particularities of the case at hand...
September 2016: Australian Family Physician
John L Moran, Patricia J Solomon
Recent viewpoints on critical care have expressed frustration at the slow development of new therapeutic agents and the failure of investigator-initiated trials. Several new directions have been proposed: personalised medicine and the embracing of "omic" technologies, resolving the heterogeneity of treatment effects, and adaptive trial designs. We examine these approaches in the context of analysis of randomised controlled trials (RCTs). The curse of treatment effect heterogeneity is found not only in critical care but also in cancer oncology...
September 2016: Critical Care and Resuscitation: Journal of the Australasian Academy of Critical Care Medicine
C Heydt, A Kostenko, S Merkelbach-Bruse, J Wolf, R Büttner
Comprehensive molecular genotyping of lung cancers has become a key requirement for guiding therapeutic decisions. As a paradigm model of implementing next-generation comprehensive diagnostics, Network Genomic Medicine (NGM) has established central diagnostic and clinical trial platforms for centralised testing and decentralised personalised treatment in clinical practice. Here, we describe the structures of the NGM network and give a summary of technologies to identify patients with anaplastic lymphoma kinase (ALK) fusion-positive lung adenocarcinomas...
September 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
K M Kerr, F López-Ríos
The evolution of personalised medicine in lung cancer has dramatically impacted diagnostic pathology. Current challenges centre on the growing demands placed on small tissue samples by molecular diagnostic techniques. In this review, expert recommendations are provided regarding successful identification of anaplastic lymphoma kinase (ALK)-rearranged non-small-cell lung cancer (NSCLC). Steps to correctly process and conserve tumour tissue during diagnostic testing are essential to ensure tissue availability...
September 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Joseph F Standing
Understanding the dose-concentration-effect relationship is a fundamental component of clinical pharmacology. Interpreting data arising from observations of this relationship requires the use of mathematical models; that is pharmacokinetic (PK) models to describe the relationship between dose and concentration and pharmacodynamic (PD) models describing the relationship between concentration and effect. Drug development requires several iterations of pharmacometric model-informed learning and confirming. This includes modelling to understand the dose-response in pre-clinical studies, deriving a safe dose for first-in-man, and the overall analysis of Phase I/II data to optimise the dose for safety and efficacy in Phase III pivotal trials...
August 27, 2016: British Journal of Clinical Pharmacology
Alessandra Gorini, Ketti Mazzocco, Haridimos Kondylakis, Gordon McVie, Gabriella Pravettoni
The uniqueness of a patient as determined by the integration of clinical data and psychological aspects should be the aspired aim of a personalized medicine approach. Nevertheless, given the time constraints usually imposed by the clinical setting, it is not easy for physicians to collect information about the patient's unique mental dimensions and needs related to her illness. Such information may be useful in tailoring patient-physician communication, improving the patient's understanding of provided information, her involvement in the treatment process, and in general her empowerment during and after the therapeutic journey...
2016: Ecancermedicalscience
A M Saracino, C P Denton, C H Orteu
A number of immunoinflammatory and profibrotic mechanisms are recognised in the pathogenesis of broad sclerotic skin processes, and more specifically, morphoea. However, precise aetiopathogenesis is complex and remains unclear. Morphoea is clinically heterogeneous, with variable anatomical patterning, depth of tissue involvement, and sclerotic, inflammatory, atrophic and dyspigmented morphology. Underlying mechanisms determining these reproducible clinical subsets are poorly understood, but of great clinical and therapeutic relevance...
August 24, 2016: British Journal of Dermatology
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