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Precision medicine risk prediction

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https://www.readbyqxmd.com/read/29162092/applying-systems-biology-to-biomedical-research-and-health-care-a-pr%C3%A3-cising-definition-of-systems-medicine
#1
Sebastian Schleidgen, Sandra Fernau, Henrike Fleischer, Christoph Schickhardt, Ann-Kristin Oßa, Eva C Winkler
BACKGROUND: Systems medicine has become a key word in biomedical research. Although it is often referred to as P4-(predictive, preventive, personalized and participatory)-medicine, it still lacks a clear definition and is open to interpretation. This conceptual lack of clarity complicates the scientific and public discourse on chances, risks and limits of Systems Medicine and may lead to unfounded hopes. Against this background, our goal was to develop a sufficiently precise and widely acceptable definition of Systems Medicine...
November 21, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/29138271/addressing-the-perfect-storm-biomarkers-in-obesity-and-pathophysiology-of-cardiometabolic-risk
#2
REVIEW
Krasimira Aleksandrova, Dariush Mozaffarian, Tobias Pischon
BACKGROUND: The worldwide rise of obesity has provoked intensified research to better understand its pathophysiology as a means for disease prevention. Several biomarkers that may reflect various pathophysiological pathways that link obesity and cardiometabolic diseases have been identified over the past decades. CONTENT: We summarize research evidence regarding the role of established and novel obesity-related biomarkers, focusing on recent epidemiological evidence for detrimental associations with cardiometabolic diseases including obesity-related cancer...
November 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/29120458/precision-newborn-screening-for-lysosomal-disorders
#3
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck, Stephanie L Nett, Jason S Eckerman, Jean M Lacey, Coleman T Turgeon, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, Dietrich Matern, Lars Mørkrid, Piero Rinaldo
PurposeThe implementation of newborn screening for lysosomal disorders has uncovered overall poor specificity, psychosocial harm experienced by caregivers, and costly follow-up testing of false-positive cases. We report an informatics solution proven to minimize these issues.MethodsThe Kentucky Department for Public Health outsourced testing for mucopolysaccharidosis type I (MPS I) and Pompe disease, conditions recently added to the recommended uniform screening panel, plus Krabbe disease, which was added by legislative mandate...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29114859/antiepileptic-drug-behavioral-side-effects-and-baseline-hyperactivity-in-children-and-adolescents-with-new-onset-epilepsy
#4
Shanna M Guilfoyle, Katherine Follansbee-Junger, Aimee W Smith, Angela Combs, Shannon Ollier, Brooke Hater, Avani C Modi
OBJECTIVE: To examine baseline psychological functioning and antiepileptic drug (AED) behavioral side effects in new onset epilepsy and determine, by age, whether baseline psychological functioning predicts AED behavioral side effects 1 month following AED initiation. METHODS: A retrospective chart review was conducted between July 2011 and December 2014 that included youths with new onset epilepsy. As part of routine interdisciplinary care, caregivers completed the Behavior Assessment System for Children, 2nd Edition: Parent Rating Scale to report on baseline psychological functioning at the diagnostic visit and the Pediatric Epilepsy Side Effects Questionnaire to identify AED behavioral side effects at the 1-month follow-up clinic visit following AED initiation...
November 8, 2017: Epilepsia
https://www.readbyqxmd.com/read/29103068/antiplatelet-therapy-for-secondary-prevention-of-vascular-disease-complications
#5
REVIEW
Rahul R Goli, Mayur M Contractor, Ashwin Nathan, Sony Tuteja, Taisei Kobayashi, Jay Giri
PURPOSE OF REVIEW: Platelets are activated upon interaction with injured vascular endothelium to form a primary hemostatic plug. Pathogenic thrombosis driven by platelet aggregation can occur in the setting of vascular disease leading to ischemic events. The use of antiplatelet agents has become a mainstay for prevention of the secondary complications of vascular disease. This review summarizes seminal and recent literature related to this area. RECENT FINDINGS: Aspirin is a cornerstone of antiplatelet therapy for coronary artery disease and cerebrovascular disease for prevention of myocardial infarction, stroke, and vascular death...
November 4, 2017: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29097511/precision-medicine-in-obesity-and-type-2-diabetes-the-relevance-of-early-life-exposures
#6
REVIEW
Angela C Estampador, Paul W Franks
BACKGROUND: Type 2 diabetes is highly prevalent and devastating. Obesity is a diabetogenic factor, driving insulin resistance and a compensatory demand for increased insulin secretion from the pancreatic β cells; a failure to address this demand results in diabetes. Accordingly, primary and secondary prevention of obesity are at the core of diabetes prevention programs. The development of obesity and decline in β-cell function often span many years or decades before diabetes is clinically manifest...
November 2, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/29062613/emerging-and-investigational-therapies-for-neuroblastoma
#7
Mark A Applebaum, Ami V Desai, Julia L Glade Bender, Susan L Cohn
INTRODUCTION: Treatment for children with clinically aggressive, high-risk neuroblastoma remains challenging. Less than 50% of patients with high-risk neuroblastoma will survive long-term with current therapies, and survivors are at risk for serious treatment-related late toxicities. Here, we review new and evolving treatments that may ultimately improve outcome for children with high-risk neuroblastoma with decreased potential for late adverse events. AREAS COVERED: New strategies for treating high-risk neuroblastoma are reviewed including: radiotherapy, targeted cytotoxics, biologics, immunotherapy, and molecularly targeted agents...
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/29058221/systems-health-a-transition-from-disease-management-toward-health-promotion
#8
Li Shen, Benchen Ye, Huimin Sun, Yuxin Lin, Herman van Wietmarschen, Bairong Shen
To date, most of the chronic diseases such as cancer, cardiovascular disease, and diabetes, are the leading cause of death. Current strategies toward disease treatment, e.g., risk prediction and target therapy, still have limitations for precision medicine due to the dynamic and complex nature of health. Interactions among genetics, lifestyle, and surrounding environments have nonnegligible effects on disease evolution. Thus a transition in health-care area is urgently needed to address the hysteresis of diagnosis and stabilize the increasing health-care costs...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29052902/towards-the-use-of-precision-medicine-in-predicting-cutaneous-squamous-cell-carcinoma-risk-among-solid-organ-transplant-recipients
#9
COMMENT
M O Nguyen, H T Nguyen, M M Asgari
No abstract text is available yet for this article.
October 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29050696/pharmacogenomics-in-acute-lymphoblastic-leukemia
#10
REVIEW
Shawn H R Lee, Jun J Yang
Pharmacogenomics is a fast-growing field of personalized medicine using a patient's genomic profile to determine drug disposition or response to drug therapy, in order to develop safer and more effective pharmacotherapy. Childhood acute lymphoblastic leukemia (ALL), being the most common malignancy in childhood, which is treated with uniform and standardized clinical trials, is remarkably poised for pharmacogenomic studies. In the last decade, unbiased genome-wide association studies have identified multiple germline risk factors that strongly modify host response to drug therapy...
September 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29049734/a-computational-approach-from-gene-to-structure-analysis-of-the-human-abca4-transporter-involved-in-genetic-retinal-diseases
#11
Alfonso Trezza, Andrea Bernini, Andrea Langella, David B Ascher, Douglas E V Pires, Andrea Sodi, Ilaria Passerini, Elisabetta Pelo, Stanislao Rizzo, Neri Niccolai, Ottavia Spiga
Purpose: The aim of this article is to report the investigation of the structural features of ABCA4, a protein associated with a genetic retinal disease. A new database collecting knowledge of ABCA4 structure may facilitate predictions about the possible functional consequences of gene mutations observed in clinical practice. Methods: In order to correlate structural and functional effects of the observed mutations, the structure of mouse P-glycoprotein was used as a template for homology modeling...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28989095/risk-factors-and-prevention-of-hepatocellular-carcinoma-in-the-era-of-precision-medicine
#12
REVIEW
Naoto Fujiwara, Scott L Friedman, Nicolas Goossens, Yujin Hoshida
Chronic fibrotic liver disease caused by viral or metabolic etiologies is a high-risk condition for developing hepatocellular carcinoma (HCC). Even after complete HCC tumor resection or ablation, the carcinogenic tissue microenvironment in the remnant liver can give rise to recurrent de novo HCC tumors, which progress into incurable, advanced-stage disease in the majority of patients. Thus, early detection and prevention of HCC development is, in principle, the most impactful strategy to improve patient prognosis...
October 5, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28944295/towards-precision-medicine-in-alzheimer-s-disease-deciphering-genetic-data-to-establish-informative-biomarkers
#13
Ornit Chiba-Falek, Michael W Lutz
INTRODUCTION: Developing biomarker tools for identification of individuals at high-risk for late-onset Alzheimer's disease (LOAD) is important for prognosis and early treatment. This review focuses on genetic factors and their potential role for precision medicine in LOAD. AREAS COVERED: APOEe4 is the strongest genetic risk factor for non-Mendelian LOAD, and the APOE-linkage disequilibrium (LD) region has produced the most significant association signal in multi-center genome-wide-association-studies (GWAS)...
2017: Expert Review of Precision Medicine and Drug Development
https://www.readbyqxmd.com/read/28926426/epigenetics-and-precision-oncology
#14
Rachael J Werner, Andrew D Kelly, Jean-Pierre J Issa
Epigenetic alterations such as DNA methylation defects and aberrant covalent histone modifications occur within all cancers and are selected for throughout the natural history of tumor formation, with changes being detectable in early onset, progression, and ultimately recurrence and metastasis. The ascertainment and use of these marks to identify at-risk patient populations, refine diagnostic criteria, and provide prognostic and predictive factors to guide treatment decisions are of growing clinical relevance...
September 2017: Cancer Journal
https://www.readbyqxmd.com/read/28916927/genetic-test-risk-prediction-and-counseling
#15
Maggie Haitian Wang, Haoyi Weng
Advancement in technology has nurtured the new era of genetic tests for personalized medicine. In this chapter, we will introduce the current development, challenges, and the outlook of genetic test, disease risk prediction, and genetic counseling. In the first section, we will present the success cases in the areas of molecular classification of tumors, pharmacogenomics, and Mendelian disorders, and the challenges of genetic tests implementations. In the second section, common methods for genetic risk prediction models and evaluation measures will be introduced, as well as challenges in feature reliability, risk model stability, and clinical utility...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28877177/an-in-vitro-diagnostic-certified-point-of-care-single-nucleotide-test-for-il28b-polymorphisms
#16
Darragh Duffy, Estelle Mottez, Shaun Ainsworth, Tan-Phuc Buivan, Aurelie Baudin, Muriel Vray, Ben Reed, Arnaud Fontanet, Alexandra Rohel, Ventzislava Petrov-Sanchez, Laurent Abel, Ioannis Theodorou, Gino Miele, Stanislas Pol, Matthew L Albert
Numerous genetic polymorphisms have been identified as associated with disease or treatment outcome, but the routine implementation of genotyping into actionable medical care remains limited. Point-of-care (PoC) technologies enable rapid and real-time treatment decisions, with great potential for extending molecular diagnostic approaches to settings with limited medical infrastructure (e.g., CLIA certified diagnostic laboratories). With respect to resource-limited settings, there is a need for simple devices to implement biomarker guided treatment strategies...
2017: PloS One
https://www.readbyqxmd.com/read/28874244/the-interplay-between-fasting-glucose-echocardiography-and-biomarkers-pathophysiological-considerations-and-prognostic-implications
#17
Manan Pareek
BACKGROUND: Traditional cardiovascular risk stratification tools that employ clinical risk factors are limited by their modest discriminative abilities. As such, robust cardiovascular risk assessment, including our understanding of the complex interplay between risk factors, in the primary preventive setting, remains incomplete. Phenotypical heterogeneity may be even greater among subjects with hyperglycemic conditions, i.e., prediabetes and diabetes, which is worrisome, given the dramatic global rise in mean fasting glucose levels, and the strong association with adverse cardiovascular outcomes...
September 2017: Danish Medical Journal
https://www.readbyqxmd.com/read/28863391/a-precision-medicine-approach-for-psychiatric-disease-based-on-repeated-symptom-scores
#18
Anthony T Fojo, Katherine L Musliner, Peter P Zandi, Scott L Zeger
For psychiatric diseases, rich information exists in the serial measurement of mental health symptom scores. We present a precision medicine framework for using the trajectories of multiple symptoms to make personalized predictions about future symptoms and related psychiatric events. Our approach fits a Bayesian hierarchical model that estimates a population-average trajectory for all symptoms and individual deviations from the average trajectory, then fits a second model that uses individual symptom trajectories to estimate the risk of experiencing an event...
December 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28860053/blood-brain-barrier-adapted-precision-medicine-therapy-for-pediatric-brain-tumors
#19
Bernard L Marini, Lydia L Benitez, Andrew H Zureick, Ralph Salloum, Angela C Gauthier, Julia Brown, Yi-Mi Wu, Dan R Robinson, Chandan Kumar, Robert Lonigro, Pankaj Vats, Xuhong Cao, Katayoon Kasaian, Bailey Anderson, Brendan Mullan, Benjamin Chandler, Joseph R Linzey, Sandra I Camelo-Piragua, Sriram Venneti, Paul E McKeever, Kathryn A McFadden, Andrew P Lieberman, Noah Brown, Lina Shao, Marcia A S Leonard, Larry Junck, Erin McKean, Cormac O Maher, Hugh J L Garton, Karin M Muraszko, Shawn Hervey-Jumper, Jean M Mulcahy-Levy, Adam Green, Lindsey M Hoffman, Katie Dorris, Nicholas A Vitanza, Joanne Wang, Jonathan Schwartz, Rishi Lulla, Natasha Pillay Smiley, Miriam Bornhorst, Daphne A Haas-Kogan, Patricia L Robertson, Arul M Chinnaiyan, Rajen Mody, Carl Koschmann
Targeted chemotherapeutics provide a promising new treatment option in neuro-oncology. The ability of these compounds to penetrate the blood-brain barrier is crucial for their successful incorporation into patient care. "CNS Targeted Agent Prediction" (CNS-TAP) is a multi-institutional and multidisciplinary translational program established at the University of Michigan for evaluating the central nervous system (CNS) activity of targeted therapies in neuro-oncology. In this report, we present the methodology of CNS-TAP in a series of pediatric and adolescent patients with high-risk brain tumors, for which molecular profiling (academic and commercial) was sought and targeted agents were incorporated...
October 2017: Translational Research: the Journal of Laboratory and Clinical Medicine
https://www.readbyqxmd.com/read/28838408/crohn-s-disease-genetics-update
#20
REVIEW
Ming-Hsi Wang, Michael F Picco
Since the discovery of the first Crohn's disease (CD) gene NOD2 in 2001, 140 genetic loci have been found in whites using high-throughput genome-wide association studies. Several genes influence the CD subphenotypes and treatment response. With the observations of increasing prevalence in Asia and developing countries and the incomplete explanation of CD variance, other underexplored areas need to be integrated through novel methodologies. Algorithms that incorporate specific genetic risk alleles with other biomarkers will be developed and used to predict CD disease course, complications, and response to specific therapies, allowing precision medicine to become real in CD...
September 2017: Gastroenterology Clinics of North America
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