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Mestroni Luisa L University of Colorado Cardiovascular Institute and Adult Medical Genetics Program, Aurora, Colorado, - - 2014
Novel medical approaches and personalized medicine seek to use genetic information to 'individualize' and improve diagnosis, prevention, and therapy. The personalized management of cardiovascular disease involves a large spectrum of potential applications, from diagnostics of monogenic disorders, to prevention and management strategies based on modifier genes, to pharmacogenetics, in which ...
Donker Albertine E AE Pediatric hemato-oncologist/PhD student, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, - - 2014
During recent years our understanding of the pathogenesis of microcytic inherited anemias has gained from the identification of several genes and proteins involved in systemic and cellular iron metabolism and heme syntheses. Numerous case reports illustrate that the implementation of these novel molecular discoveries in clinical practice has increased our ...
Olson J E JE Department of Health Sciences Research, Mayo Clinic, Rochester, MN, - - 2014
We provide a mini-review of how biobanks can support clinical genetics in the era of personalized medicine. We discuss types of biobanks, including disease specific and general biobanks not focused on one disease. We present considerations in setting up a biobank, including consenting and governance, biospecimens, risk factor and related ...
Lamoril Jérôme J Département de génétique moléculaire, Hôpital Bichat, Hôpitaux Universitaires Paris Nord Val de Seine, Paris, - - 2014
New sequencing techniques are revolutionizing medical practice as its applications are numerous and considerable. We are living a technological turning point in molecular medicine. Indeed, thanks to these new machines, this technological leap allowed us to analyse the human genome with an elarged or even a total view. Genome analysis ...
Weissman Ariel A IVF Unit, Department of Obstetrics and Gynecology, Edith Wolfson Medical Center, Holon, Sackler Faculty of Medicine, Tel Aviv University, Israel. Electronic address: - - 2014
Although oocyte donation is widely practised, few interventions in this field are evidence based. The objective of this study was to describe the current practices for evaluation and treatment of oocyte donors and recipients worldwide. Through an IVF-focused website, an internet-based survey was addressed to physicians in IVF units worldwide. ...
Brezina Paul R PR Reproductive Endocrinology and Infertility, Fertility Associates of Memphis, 80 Humphreys Center, Suite 307, Memphis, TN 38120, USA; Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, B-1100 Medical Center North, Nashville, TN 37232, USA; Department of Surgery, MS133, Room B3019, St. Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105-3678, USA. Electronic address: - - 2014
As medicine has evolved over the last century, medical genetics has grown from nonexistence to one of the most visible aspects of how we understand and treat disease. This increased role of genetics within medicine will only increase in the coming years, and its role in reproductive medicine will be ...
Rehemtulla Alnawaz A Departments of Radiation Oncology and Radiology, University of Michigan, Ann Arbor, - - 2013
The future of personalized oncological therapy will likely rely on evidence-based medicine to integrate all of the available evidence to delineate the most efficacious treatment option for the patient. To undertake evidence-based medicine through use of targeted therapy regimens, identification of the specific underlying causative mutation(s) driving growth and progression ...
Beim Piraye Yurttas - - 2013
Significant progress has been made in several fields of medicine towards personalizing treatment recommendations based on individual patient genotype. As the number of clinical and genetic biomarkers available to physicians has increased, predictive models able to integrate the contributions of multiple variables simultaneously have become valuable tools for medical decision ...
Lesko Lawrence J - - 2013
Heterogeneity of treatment effects in unselected patient populations has stimulated various strategic approaches to reduce variability and uncertainty and improve individualization of drug selection and dosing. The rapid growth of DNA sequencing and related technologies has ramped up progress in interpreting germline and somatic mutations and has begun to re-shape ...
Alharbi Khalid Khalaf KK Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, Riyadh 11433, Saudi - - 2014
Nanodiagnostics is the term used for the application of nanobiotechnology in molecular diagnosis, which is important for developing personalized cancer therapy. It is usually based on pharmacogenetics, pharmacogenomics, and pharmacoproteomic information but also takes into consideration environmental factors that influence response to therapy. Nanotechnology in medicine involves applications of nanoparticles ...
Pascual-Ruiz S - - 2013
Tetranychus urticae Koch is a cosmopolitan mite considered as the most polyphagous species among spider mites. This mite is a key pest of clementine mandarins in Eastern Spain, where Spanish clementine production concentrates. Crop management practices can affect the population dynamics of this mite and, consequently, its impact on the ...
Crawford Gillian - - 2013
Purpose:The aim of this study was to explore the clinical management of incidental findings. Advances in the speed and sensitivity of genetic technologies have not only improved the diagnostic rate but also result in an increase in unanticipated diagnoses. Recent debate on such "incidental findings" has considered whether or not ...
Brice Philippa - - 2013
The recent European Atherosclerosis Society (EAS) guidelines for the management of familial hypercholesterolaemia (FH) succinctly reiterate the under-diagnosis and poor management of this common genetic disorder, which is associated with greatly increased mortality from coronary heart disease (CHD), especially in young people. The prevalence of FH is thought to be ...
Ferrier Raechel Ann - - 2013
Numerous groups of health professionals have undertaken the task of defining core competencies for their profession. The goal of establishing core competencies is to have a defined standard for such professional needs as practice guidelines, training curricula, certification, continuing competency and re-entry to practice. In 2006, the Canadian Association of ...
Langfelder-Schwind Elinor - - 2013
To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic ...
Zorov D B - - 2013
Mitochondrial medicine was established more than 50 years ago after discovery of the very first pathology caused by impaired mitochondria. Since then, more than 100 mitochondrial pathologies have been discovered. However, the number may be significantly higher if we interpret the term "mitochondrial medicine" more widely and include in these ...
Green David W - - 2013
To investigate public perceptions of the benefits, risks and use of a natural remedy, a pharmaceutical medicine and a personalised medicine, tailored to a person's genetic-makeup, to treat illness. In a case-based scenario, groups of participants individually rated the three different treatments of an illness in terms of their perceived ...
Nowaczyk MaƂgorzata J M - - 2013
An call for papers on the topic of narrative medicine as it pertains to the practice of clinical genetics, this article briefly reviews the tenets of narrative medicine and the ethical issues associated with publishing patients' and doctors' stories. It is an invitation to the readership of the American Journal ...
Komatsu Hiroko H Faculty of Nursing and Medical Care, Keio University, Tokyo, - - 2014
Personalized medicine, the tailoring of prevention and treatment, is the future of routine clinical practice. This approach has started to appear in genetic testing for predisposition to hereditary breast and ovarian cancer (HBOC). We explored how breast-care providers perceived HBOC risk management, using grounded theory. This study found that the ...
Hentgen Véronique - - 2013
AIM: Familial Mediterranean Fever (FMF) is the most common recurrent autoinflammatory fever syndrome. Still, many issues-e.g.: colchicine dosage adjustment, maximum dosage of colchicine in children and adults, definition of colchicine resistance, alternative treatment solutions in colchicine-resistant patients, and genetic screening for asymptomatic siblings-have not yet been standardized. The current paper ...
Martin Claire A CA Physiological Laboratory, University of Cambridge, Downing Site, Cambridge CB2 3EG, UK. - - 2013
Sudden cardiac death (SCD) following ventricular tachyarrhythmias constitutes an important clinical cause of mortality; 4% of cases may involve ion channel-mediated cellular excitation in structurally normal hearts. Alterations in such processes could disturb action potential conduction, depolarization/ repolarization gradients, or Ca(2+) homeostasis with potential arrhythmogenic consequences. Although SCD may be ...
Ozcan Mehmet A - - 2013
Myelodysplastic syndromes (MDS) are a poorly understood group of disorders caused by one or more genetic aberrations in the bone marrow-derived cell line responsible for hematopoiesis. Recent advances in genetic medicine have offered new insights into the epigenesis as well as the prognosis of MDS, but have not resulted in ...
Predazzi Irene M - - 2013
In the coming years, genomics will impact clinical practice in multiple ways. However, one of the most important applications will be in the determination of the best treatments in personalized medicine. This is, in fact, one of the fields in which genetic variants have already been most successful and useful ...
Chalmers Don - - 2013
The "Genome Era", a term that has been used to describe the period following the sequencing of the human genome, has heralded significant changes in biomedical research and clinical practice. Personalised medicine aims to use this increased genetic knowledge base to identify predisposition to disease and to tailor treatment to ...
Najafzadeh Mehdi - - 2013
Personalized medicine-tailoring interventions based on individual's genetic information-will likely change routine clinical practice in the future. Yet, how practitioners plan to apply genetic information to inform medical decision making remains unclear. We aimed to investigate physician's perception about the future role of personalized medicine, and to identify the factors that ...
Buchanan James W - - 2013
Throughout civilization, animals have played a pivotal role in the advancement of science and medicine. From as early as 400 BC when Hippocrates recognized that diseases had natural causes, the steadfast advances made by biologists, scientists, physicians and scholars were fueled by timely and important facts and information- much of ...
Denecke Kerstin - - 2013
Advances in genomics and human genetics have enabled a more detailed understanding of the impact of genetics in a disease and its treatment. In addition to a patient's clinical signs and symptoms, physicians can now or in near future consider genetic data for their diagnosis and treatment decisions. This new ...
Zhang Hucai - - 2013
The domestication of cattle is generally accepted to have taken place in two independent centres: around 10,500 years ago in the Near East, giving rise to modern taurine cattle, and two millennia later in southern Asia, giving rise to zebu cattle. Here we provide firmly dated morphological and genetic evidence ...
Doucet Brian Percy - - 2013
A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, ...
Lava Sebastiano A G SA Department of Pediatrics, Bellinzona and Mendrisio, and University of Bern, Bern, - - 2013
In symptomatic fever management, there is often a gap between everyday clinical practice and current evidence. We were interested to see whether the three linguistic regions of Switzerland differ in the management of fever. A close-ended questionnaire, sent to 900 Swiss paediatricians, was answered by 322 paediatricians. Two hundred and ...
Surani M Azim MA Wellcome Trust Cancer Research UK Gurdon Institute, University of Cambridge, Cambridge CB2 1QN, UK. - - 2012
The discovery that phenotypic diversity among differentiated cells results from epigenetic and not genetic differences, and can be reset to restore pluripotency, promises revolutionary advances in medicine. I discuss how this and related seminal discoveries have brought us to an exciting future.
Kahn Jonathan - - 2012
This article is concerned about what may be happening to race and medicine in the "meantime" between today's clinical realities and the promised land of pharmacogenomics where the need for using race in medicine is supposed to fade away. It argues that previous debates over the use of race in ...
Mathieu Thierry - - 2012
After human genome mapping, omics revolution and empowering sequencing technologies developed at the turn of the century, new deals are to switch from population medicine to individual therapies, from curing the disease to preventing it. This review by the pharmacogenetics and predictive medicine working group of the French clinical biology ...
Venegas Karen Rojo - - 2012
Abstract Osteoporosis is a complex multifactorial bone disorder with a strong genetic basis. It is the most common, severe, progressive skeletal illness that has been increasing, particularly in developed countries. Osteoporosis will no doubt constitute a serious clinical burden in healthcare management in the coming decades. The genetics of osteoporosis ...
Nattestad Anders - - 2012
Knowledge management systems utilize information technology to manage knowledge in organizations with the purpose of creating, supporting, storing and disseminating information. These systems have been around for decades, but have significantly changed over time in complexity and features with the evolution of information technology and the Internet. With the development ...
Burton H - - 2012
Medicine has always striven to personalise or stratify approaches towards individual patients, but recently these terms have been applied particularly to denote improved disease sub-classification achieved through new genetic and genomic technologies. Techniques to analyse a person's genetic code have improved in sensitivity exponentially over recent years and at the ...
Caplan A L - - 2012
Discovering the genetic variations that create profiles of risk and drive individual responses to drugs and vaccines has proven more difficult than many initially presupposed. Rhetoric about the prospect of personalized medicine has exceeded the ability to deliver on that vision. There also remain significant ethical and policy obstacles that ...
McCourt Clare Margaret - - 2013
Immunohistochemistry (IHC) plays a central role in the histopathological classification of diseases, including cancer. More recently, the importance of immunohistochemical staining is increasing. IHC usage in diagnostics is invaluable; however, the genetic and therapeutic significance of biomarker immunostaining has become equally relevant. In this article, we would like to analyse ...
Turner E Jane H - - 2012
Acute upper limb ischaemia (AULI) can be managed surgically, via interventional radiology, and conservatively, but no real guidelines exist for when a conservative approach is appropriate. A systematic review of the literature is presented of the surgical, radiological and conservative management of AULI. A search was performed using the electronic ...
El-Deeb Mohammed H - - 2012
Although current practice guidelines provide an evidence-based approach to the management of acute coronary syndromes, application of the evidence by individual physicians has been suboptimal. This gap between comprehensive guidelines and actual practice stimulated Oman Heart Association to issue a simplified series for the management of the common cardiac abnormalities ...
Newman W G - - 2012
This review is based on a presentation given by Dr Newman at the RCPE Genetics Symposium on 20 April 2012.
Dodson Thomas B - - 2012
The purpose of the present report was to define and advocate active surveillance compared with follow-up as needed (prn follow-up), as the preferred management strategy for patients who elect to retain their third molars (M3s). Active surveillance, a nonoperative management strategy for retained M3s, is characterized as a prescribed, regularly ...
Sawhney Vinit - - 2012
Cardiovascular disease (CVD) is a heterogeneous, complex trait that has a major impact on human morbidity and mortality. Common genetic variation may predispose to common forms of CVD in the community, and rare genetic conditions provide unique pathogenetic insights into these diseases. With the advent of the Human Genome Project ...
Koumaras George M - - 2012
PURPOSE: The purpose of this study was to estimate the treatment costs directly related to operative and nonoperative management of asymptomatic, disease-free, third molar (M3) teeth. MATERIALS AND METHODS: The data reviewed were limited to claims submitted by oral and maxillofacial surgeons. The data collected included charges for consultations, radiographs, ...
Powell Suzanne K - - 2012
Case management has evolved from a grassroots method to assist patients and facilities to navigate changes in the healthcare system, to a fully fledged profession with core competencies, Standards of Practice, and an evidence-based peer review journal. With the latest healthcare reform, it is clear that case management leads to ...
Cook Paul F - - 2012
When a construct such as patients' "transition to self-management" of chronic illness is studied by researchers across multiple disciplines, the meaning of key terms can become confused. This results from inherent problems in language where a term can have multiple meanings (polysemy) and different words can mean the same thing ...
Turner Dan D Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Israel. - - 2012
Pediatric ulcerative colitis (UC) shares many features with adult-onset disease but there are some unique considerations; therefore, therapeutic approaches have to be adapted to these particular needs. We aimed to formulate guidelines for managing UC in children based on a systematic review (SR) of the literature and a robust consensus ...
Ritchie Marylyn D MD Department of Biochemistry and Molecular Biology, The Huck Institutes of the Life Sciences, Center for Systems Genomics, Eberly College of Science, The Pennsylvania State University, University Park, PA 16802, USA. - - 2012
Pharmacogenomics is emerging as a popular type of study for human genetics in recent years. This is primarily due to the many success stories and high potential for translation to clinical practice. In this review, the strengths and limitations of pharmacogenomics are discussed as well as the primary epidemiologic, clinical ...
Husain J - - 2012
This review summarises updated clinical guidelines produced by the Clinical Standards Committee of the Faculty of Dental Surgery, Royal College of Surgeons of England (FDSRCS). This guideline on the management of the palatally ectopic maxillary canine illustrates the information contained in the recently updated online version. The timely recognition of ...
Whitfield John B - - 2012
Abstract The past 50 years have seen many changes in laboratory medicine, either as causes or consequences of increases in productivity and expansion of the range of information which can be provided. The drivers and facilitators of change in relation to clinical applications of molecular biology included the need for ...
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