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Precision medicine risk prediction

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https://www.readbyqxmd.com/read/28078311/common-variant-rs356182-near-snca-defines-a-parkinson-s-disease-endophenotype
#1
Christine A Cooper, Nimansha Jain, Michael D Gallagher, Daniel Weintraub, Sharon X Xie, Yosef Berlyand, Alberto J Espay, Joseph Quinn, Karen L Edwards, Thomas Montine, Vivianna M Van Deerlin, John Trojanowski, Cyrus P Zabetian, Alice S Chen-Plotkin
OBJECTIVE: Parkinson's disease (PD) presents clinically with several motor subtypes that exhibit variable treatment response and prognosis. Here, we investigated genetic variants for their potential association with PD motor phenotype and progression. METHODS: We screened 10 SNPs, previously associated with PD risk, for association with tremor-dominant (TD) versus postural-instability gait disorder (PIGD) motor subtypes. SNPs that correlated with the TD/PIGD ratio in a discovery cohort of 251 PD patients were then evaluated in a multi-site replication cohort of 559 PD patients...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28075351/circulating-nucleosomes-and-nucleosome-modifications-as-biomarkers-in-cancer
#2
REVIEW
Peter McAnena, James A L Brown, Michael J Kerin
Traditionally the stratification of many cancers involves combining tumour and clinicopathological features (e.g., patient age; tumour size, grade, receptor status and location) to inform treatment options and predict recurrence risk and survival. However, current biomarkers often require invasive excision of the tumour for profiling, do not allow monitoring of the response to treatment and stratify patients into broad heterogeneous groups leading to inconsistent treatment responses. Here we explore and describe the benefits of using circulating biomarkers (nucleosomes and/or modifications to nucleosomes) as a non-invasive method for detecting cancer and monitoring response to treatment...
January 8, 2017: Cancers
https://www.readbyqxmd.com/read/28067676/severe-community-acquired-pneumonia-optimal-management
#3
Davide Leoni, Jordi Rello
PURPOSE OF REVIEW: Community-acquired pneumonia (CAP) is the leading cause of mortality among infectious diseases. Several efforts have been implemented to achieve better outcomes, but an important proportion of patients continue dying. This review focuses on the newest research on prognostic factors and diagnostics, opening new perspectives in the management of CAP. RECENT FINDINGS: CAP survival improved in recent years despite an increasing incidence of severe presentations...
January 6, 2017: Current Opinion in Infectious Diseases
https://www.readbyqxmd.com/read/28059156/genetic-screening-in-arterial-hypertension
#4
REVIEW
Gian Paolo Rossi, Giulio Ceolotto, Brasilina Caroccia, Livia Lenzini
Studies involving adoptive families and twins have demonstrated the genetic basis of hypertension and shown that genetic factors account for about 40% of the variance in blood pressure among individuals. Arterial hypertension is genetically complex: multiple genes influence the blood pressure phenotype through allelic effects from single genes and gene-gene interactions. Moreover, environmental factors also modify the blood pressure phenotype. This complexity explains why the identification of the underlying genes has not been as successful in hypertension as in other diseases (such as type 1 and type 2 diabetes mellitus)...
January 6, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28035251/role-of-circulating-free-dna-in-colorectal-cancer
#5
REVIEW
Alexios Matikas, Alexandra Voutsina, Maria Trypaki, Vassilis Georgoulias
The gradual elucidation of the underlying biology of colorectal cancer has provided new insights and therapeutic options for patients with metastatic disease which are selected according to predictive biomarkers. This precision medicine paradigm, however, is incomplete since not all eligible patients respond to these agents and prognostic stratification is largely based on clinicopathologic variants. Importantly, no robust data exist to help properly select patients with localized disease at high risk for recurrence and most likely to benefit from adjuvant chemotherapy...
December 15, 2016: World Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28018236/host-microbiome-interaction-and-cancer-potential-application-in-precision-medicine
#6
REVIEW
Alejandra V Contreras, Benjamin Cocom-Chan, Georgina Hernandez-Montes, Tobias Portillo-Bobadilla, Osbaldo Resendis-Antonio
It has been experimentally shown that host-microbial interaction plays a major role in shaping the wellness or disease of the human body. Microorganisms coexisting in human tissues provide a variety of benefits that contribute to proper functional activity in the host through the modulation of fundamental processes such as signal transduction, immunity and metabolism. The unbalance of this microbial profile, or dysbiosis, has been correlated with the genesis and evolution of complex diseases such as cancer...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27975229/introduction-to-clinical-proteomics
#7
John E Wiktorowicz, Allan R Brasier
Within the context of this section, biomarkers are defined as a panel of proteins and peptides that are predictive of the risk for developing a pathological condition. It is important to note here that the use of the descriptor 'panel' is purposeful in that single "biomarkers" are rarely sufficient to permit accurate prediction of a pathological condition. More specifically, the primary application of a biomarker panel is that it serves as a molecular indicator of the severity of a disease or its early response to treatment...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27965598/defining-precision-medicine-approaches-to-autism-spectrum-disorders-concepts-and-challenges
#8
Eva Loth, Declan G Murphy, Will Spooren
The tremendous clinical and etiological variability between individuals with autism spectrum disorder (ASD) has made precision medicine the most promising treatment approach. It aims to combine new pathophysiologically based treatments with objective tests (stratification biomarkers) to predict which treatment may be beneficial for a particular person. Here we discuss significant advances and current challenges for this approach: rare monogenic forms of ASD have provided a major breakthrough for the identification of treatment targets by providing a means to trace causal links from a gene to specific molecular alterations and biological pathways...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27955861/genomics-of-adverse-drug-reactions
#9
REVIEW
Ana Alfirevic, Munir Pirmohamed
Adverse drug reactions (ADRs) are common, are associated with morbidity and mortality, and are costly to healthcare systems. Genomic factors predispose to ADRs, but these vary depending on the drug, patient, and disease. Genomic testing can not only help to predict and prevent ADRs but can also be used in other ways (diagnosis, closer monitoring of those at risk, pre-emptive genotyping, and understanding of mechanism), all of which will be important in the future to improve the benefit-risk ratio of drugs. In the era of precision medicine, such genomic data will need to be integrated with other forms of data to develop a comprehensive and integrated approach to improve responses to medicines used in patients...
January 2017: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/27915475/how-precisely-can-prostate-cancer-be-managed
#10
REVIEW
Liyan Zhuang, Matthew T Johnson
Progress has been made in applying genetic information to disease management in the postgenomic era, and precision medicine is emerging in prostate cancer management. The prostate health index, the 4-kallikrein (4K) score, and the PCA3, TMPRSS2- ERG, and Prostarix tests have potential for refining prostate cancer screening in conjunction with traditional prostate-specific antigen testing. The Confirm MDx and PCA3 tests have shown promise in identifying men who need be rebiopsied after a primary negative biopsy...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27901647/a-decade-of-age-related-macular-degeneration-risk-models-what-have-we-learned-from-them-and-where-are-we-going
#11
Michael Zhang, Paul N Baird
The genomic revolution has revealed the complexity of multifactorial diseases, making the development of effective diagnostics extremely challenging. In turn, the prospect of precision medicine as applied through targeted therapeutic treatments continues to remain largely elusive. Age-related macular degeneration (AMD) as a complex disease falls under this category, despite it being one of the most well characterized multifactorial diseases. This reflects both the extent of identified genetic components and known environmental risk factors...
November 30, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27899774/-a-review-multigene-assays-for-clinical-utility-in-breast-cancer
#12
Kazuhiro Araki, Yoshinori Ito
Multigene assays that simultaneously measure the expression of various breast cancer genes have been developed to guide the use of adjuvant chemotherapy in early breast cancer. The efficacy of adjuvant therapies depends on the recurrence risk for an individual patient. As a result, accurate prediction of the recurrence risk is vital for precise adjuvant chemotherapy in individual breast cancer patients. The recurrence risk as typically assessed by conventional examination of histological data of immuno-histological biomarkers(ER, PR, HER2, and Ki-67)is not sufficient to select subsets of patients...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/27881558/the-american-heart-association-s-new-institute-for-precision-cardiovascular-medicine
#13
Steven R Houser
No abstract text is available yet for this article.
December 13, 2016: Circulation
https://www.readbyqxmd.com/read/27864403/using-group-data-to-treat-individuals-understanding-heterogeneous-treatment-effects-in-the-age-of-precision-medicine-and-patient-centred-evidence
#14
REVIEW
Issa J Dahabreh, Rodney Hayward, David M Kent
Although often conflated, determining the best treatment for an individual (the task of a doctor) is fundamentally different from determining the average effect of treatment in a population (the purpose of a trial). In this paper, we review concepts of heterogeneity of treatment effects (HTE) essential in providing the evidence base for precision medicine and patient-centred care, and explore some inherent limitations of using group data (e.g. from a randomized trial) to guide treatment decisions for individuals...
November 17, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27819294/big-genomics-and-clinical-data-analytics-strategies-for-precision-cancer-prognosis
#15
Ghim Siong Ow, Vladimir A Kuznetsov
The field of personalized and precise medicine in the era of big data analytics is growing rapidly. Previously, we proposed our model of patient classification termed Prognostic Signature Vector Matching (PSVM) and identified a 37 variable signature comprising 36 let-7b associated prognostic significant mRNAs and the age risk factor that stratified large high-grade serous ovarian cancer patient cohorts into three survival-significant risk groups. Here, we investigated the predictive performance of PSVM via optimization of the prognostic variable weights, which represent the relative importance of one prognostic variable over the others...
November 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27807747/text-mining-for-precision-medicine-bringing-structure-to-ehrs-and-biomedical-literature-to-understand-genes-and-health
#16
Michael Simmons, Ayush Singhal, Zhiyong Lu
The key question of precision medicine is whether it is possible to find clinically actionable granularity in diagnosing disease and classifying patient risk. The advent of next-generation sequencing and the widespread adoption of electronic health records (EHRs) have provided clinicians and researchers a wealth of data and made possible the precise characterization of individual patient genotypes and phenotypes. Unstructured text-found in biomedical publications and clinical notes-is an important component of genotype and phenotype knowledge...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27786179/the-road-to-precision-psychiatry-translating-genetics-into-disease-mechanisms
#17
REVIEW
Michael J Gandal, Virpi Leppa, Hyejung Won, Neelroop N Parikshak, Daniel H Geschwind
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been identified. This success, perhaps paradoxically, has posed challenges for therapeutic development, which are amplified by the highly polygenic and pleiotropic nature of these genetic contributions. Success requires understanding the biological impact of single genetic variants and predicting their effects within an individual. Comprehensive functional genomic annotation of risk loci provides a framework for interpretation of neurobiological impact, requiring experimental validation with in vivo or in vitro model systems...
October 26, 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27768772/de-novo-transcriptomes-of-forsythia-koreana-using-a-novel-assembly-method-insight-into-tissue-and-species-specific-expression-of-lignan-biosynthesis-related-gene
#18
Akira Shiraishi, Jun Murata, Erika Matsumoto, Shin Matsubara, Eiichiro Ono, Honoo Satake
Forsythia spp. are perennial woody plants which are one of the most extensively used medicinal sources of Chinese medicines and functional diets owing to their lignan contents. Lignans have received widespread attention as leading compounds in the development of antitumor drugs and healthy diets for reducing the risks of lifestyle-related diseases. However, the molecular basis of Forsythia has yet to be established. In this study, we have verified de novo deep transcriptome of Forsythia koreana leaf and callus using the Illumina HiSeq 1500 platform...
2016: PloS One
https://www.readbyqxmd.com/read/27765959/machine-learning-and-decision-support-in-critical-care
#19
Alistair E W Johnson, Mohammad M Ghassemi, Shamim Nemati, Katherine E Niehaus, David A Clifton, Gari D Clifford
Clinical data management systems typically provide caregiver teams with useful information, derived from large, sometimes highly heterogeneous, data sources that are often changing dynamically. Over the last decade there has been a significant surge in interest in using these data sources, from simply re-using the standard clinical databases for event prediction or decision support, to including dynamic and patient-specific information into clinical monitoring and prediction problems. However, in most cases, commercial clinical databases have been designed to document clinical activity for reporting, liability and billing reasons, rather than for developing new algorithms...
February 2016: Proceedings of the IEEE
https://www.readbyqxmd.com/read/27746980/translation-from-the-data-of-clinical-trials-to-precision-medicine-limitation-of-the-current-risk-score-for-predicting-coronary-thrombosis-and-major-bleeding
#20
COMMENT
Jong-Hwa Ahn, Jeong Yoon Jang, Young-Hoon Jeong
No abstract text is available yet for this article.
September 2016: Journal of Thoracic Disease
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