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Precision medicine population

Luke Mease, Reema Sikka, Randall Rhees
Introduction: To analyze the effectiveness and suitability of pupillometer use in military and occupational medicine, specifically when pupil size is measured as part of medical surveillance. Pupil size is the most sensitive physical exam finding in vapor exposure to substances that inhibit acetylcholinesterase, such as nerve agent (chemical warfare) and organophosphates (used in agriculture). Pupillometer use permits real-time, accurate pupil measurements, which are of significant value in occupational setting where exposure to organophosphates is suspected and in dynamic military settings where it may be unclear if service members were exposed to nerve agent or not...
March 14, 2018: Military Medicine
W Gregory Feero, Catherine A Wicklund, David Veenstra
No abstract text is available yet for this article.
March 16, 2018: JAMA: the Journal of the American Medical Association
Elizabeth B Burgener, Richard B Moss
PURPOSE OF REVIEW: The aim of this study was to describe the newest development in cystic fibrosis (CF) care, CF transmembrane conductance regulator (CFTR) modulator therapies. RECENT FINDINGS: Phase II results showing CFTR modulator triple therapies are more effective than current CFTR modulators. SUMMARY: CFTR modulator therapy targets the protein defective in CF and boosts its function, but the drug must match mutation pathobiology. Ivacaftor, a CFTR potentiator, was the first modulator approved in 2012, with impressive improvement in lung function and other measures of disease in patients with gating and other residual function mutations (∼10% of CF patients)...
March 13, 2018: Current Opinion in Pediatrics
Xiang-Tian Yu, Tao Zeng
The diversity and huge omics data take biology and biomedicine research and application into a big data era, just like that popular in human society a decade ago. They are opening a new challenge from horizontal data ensemble (e.g., the similar types of data collected from different labs or companies) to vertical data ensemble (e.g., the different types of data collected for a group of person with match information), which requires the integrative analysis in biology and biomedicine and also asks for emergent development of data integration to address the great changes from previous population-guided to newly individual-guided investigations...
2018: Methods in Molecular Biology
Lauren H Supplee, Jenita Parekh, Makedah Johnson
Precision medicine and precision public health focus on identifying and providing the right intervention to the right population at the right time. Expanding on the concept, precision prevention science could allow the field to examine prevention programs to identify ways to make them more efficient and effective at scale, including addressing issues related to engagement and retention of participants. Research to date on engagement and retention has often focused on demographics and risk factors. The current paper proposes using McCurdy and Daro (Family Relations, 50, 113-121, 2001) model that posits a complex mixture of individual, provider, program, and community-level factors synergistically affect enrollment, engagement, and retention...
March 12, 2018: Prevention Science: the Official Journal of the Society for Prevention Research
Rebecca L King, Grzegorz S Nowakowski, Thomas E Witzig, David W Scott, Richard F Little, Fangxin Hong, Randy D Gascoyne, Brad S Kahl, William R Macon
ECOG/ACRIN 1412 (E1412) is a randomized, phase II open-label study of lenalidomide/RCHOP vs. RCHOP alone in adults with newly diagnosed de novo diffuse large B-cell lymphoma (DLBCL) and requires NanoString gene expression profiling (GEP) for cell-of-origin testing. Because of high ineligibility rate on retrospective expert central pathology review (ECPR), real-time (RT) ECPR was instituted to confirm diagnosis and ensure adequate tissue for GEP prior to study enrollment. Goal was notification of eligibility within 2 working days (WD)...
February 28, 2018: Blood Cancer Journal
Stephanie A Kraft, Megan Doerr
The lack of diversity of populations included in genomics databases is an important inhibitor of genomic discovery from bench to bedside. One way to increase the diversity of participants is to ensure that informed consent processes are designed for cultural and linguistic concordance for non-majority populations. This article describes two case studies of genomics research studies that are using novel approaches to informed consent to increase recruitment and retention of participants from traditionally underrepresented populations: The Cancer Health Assessments Reaching Many (CHARM) study, part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, and the All of Us Research Program, part of the Precision Medicine Initiative...
March 7, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Angel Cy Mak, Marquitta J White, Walter L Eckalbar, Zachary A Szpiech, Sam S Oh, Maria Pino-Yanes, Donglei Hu, Pagé Goddard, Scott Huntsman, Joshua Galanter, Ann Chen Wu, Blanca E Himes, Soren Germer, Julia M Vogel, Karen L Bunting, Celeste Eng, Sandra Salazar, Kevin L Keys, Jennifer Liberto, Thomas J Nuckton, Thomas A Nguyen, Dara G Torgerson, Pui-Yan Kwok, Albert M Levin, Juan C Celedón, Erick Forno, Hakon Hakonarson, Patrick M Sleiman, Amber Dahlin, Kelan G Tantisira, Scott T Weiss, Denise Serebrisky, Emerita Brigino-Buenaventura, Harold J Farber, Kelley Meade, Michael A Lenoir, Pedro C Avila, Saunak Sen, Shannon M Thyne, William Rodriguez-Cintron, Cheryl A Winkler, Andrés Moreno-Estrada, Karla Sandoval, Jose R Rodriguez-Santana, Rajesh Kumar, L Keoki Williams, Nadav Ahituv, Elad Ziv, Max A Seibold, Robert B Darnell, Noah Zaitlen, Ryan D Hernandez, Esteban G Burchard
Rationale Albuterol, a bronchodilator medication, is the first-line therapy for asthma worldwide. There are significant racial/ethnic differences in albuterol drug response. Objective To identify genetic variants important for bronchodilator drug response (BDR) in racially diverse children. Methods We performed the first whole genome sequencing (WGS) pharmacogenetics study from 1,441 children with asthma from the tails of the BDR distribution to identify genetic association with BDR. Measurements and Main Results We identified population-specific and shared genetic variants associated with BDR, including genome-wide significant (p < 3...
March 6, 2018: American Journal of Respiratory and Critical Care Medicine
L D Rock, M P Rosin, L Zhang, B Chan, B Shariati, D M Laronde
OBJECTIVES: Tobacco usage is the strongest risk factor in the development of oral squamous cell carcinoma (OSCC), which mandates careful screening for oral cancers in smokers. However, there are indications that oral potentially malignant lesions, such as oral epithelial dysplasia (OED), in non-smokers (NS) have a higher cancer risk than those in smokers. Without tobacco as an etiology, the development of these lesions in NS may suggest genetic susceptibility. The increasing incidence of OSCC in NS calls for a better understanding of the natural history of OED in NS as compared to that of smokers...
March 2018: Oral Oncology
Niloufar Farzan, Susanne J Vijverberg, Michael Kabesch, Peter J Sterk, Anke H Maitland-van der Zee
Asthma is a complex multifactorial disease and it is the most common chronic disease in children. There is a high variability in response to asthma treatment, even in patients with good adherence to maintenance treatment, and a correct inhalation technique. Distinct underlying disease mechanisms in childhood asthma might be the reason of this heterogeneity. A deeper knowledge of the underlying molecular mechanisms of asthma has led to the recent development of advanced and mechanism-based treatments such as biologicals...
March 1, 2018: Pediatric Pulmonology
Michael Lam, Jonathan M Loree, Allan Anderson Pereira Lima, Yun Shin Chun, Scott Kopetz
Current trial design is challenged by the advancement of technologies that have enabled deeper understanding of the molecular drivers of colorectal cancer (CRC). The speed of trial testing and the ability to test larger volumes of promising novel agents in the face of smaller populations identified by molecular profiling are challenges posed to clinical studies. Master protocols that utilize umbrella designs are equipped to deal with potential biomarker and matched treatments simultaneously. Although complex in nature, they increase trial efficiency by utilizing shared screening platforms, test multiple treatments together, and simplify regulatory submission and reporting under a common protocol...
February 27, 2018: Current Treatment Options in Oncology
Alyssa M Merbler, Breanne J Byiers, John J Garcia, Timothy J Feyma, Frank J Symons
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Sleep problems are reported by the majority of caregivers of individuals with RTT. METHODS: The present study aimed to replicate and extend previous work about the feasibility of measuring sleep with an actigraph device in a sample of girls with clinically diagnosed RTT (N = 13, mean age = 9 years, 5 months). Participants wore an actigraph device day and night for seven consecutive days...
February 27, 2018: Journal of Neurodevelopmental Disorders
Anuli Christiana Uzozie, Ruedi Aebersold
Remarkable advances in quantitative mass spectrometry have shifted the focus of proteomics from the characterization of protein expression profiles to detailed investigations on the spatial and temporal organization of the proteome. Demands for precision therapy and personalized medicine are challenged by heterogeneity in the larger population, which have led to drawbacks in biomarker performance and therapeutic efficacy. The consistent adaptation of the cellular proteome in response to distinctive signals defines a phenotype...
February 21, 2018: Journal of Proteomics
John P A Ioannidis, Muin J Khoury
Genomic and other related big data (Big Genomic Data, BGD for short) are ushering a new era of precision medicine. This overview discusses whether principles of evidence-based medicine (EBM) hold true for BGD and how they should be operationalized in the current era. Major EBM principles include the systematic identification, description and analysis of the validity and utility of BGD, the combination of individual clinical expertise with individual patient needs and preferences, and the focus on obtaining experimental evidence, whenever possible...
February 20, 2018: Human Molecular Genetics
Jennifer J Gao, Sandra M Swain
PURPOSE: Chemotherapy has been the historical mainstay of treatment for patients with breast cancer, with immunohistochemical markers and tumor characteristics driving treatment decisions. The discovery of different intrinsic subtypes of breast cancer has advanced the understanding of breast cancer, with gene-based assays shedding further light on tumor behavior and response to treatment. DESIGN: This review focuses on the landscape of the luminal A subtype, its definition based on immunohistochemistry (IHC) and gene assays, the prognostic and predictive value of these assays, guideline recommendations, and treatment implications...
February 22, 2018: Oncologist
Joseph F Petrosino
Novel associations between the human microbiome and health and disease are routinely emerging, and important host-microbiome interactions are targets for new diagnostics and therapeutics. Understanding how broadly host-microbe associations are maintained across populations is revealing individualized host-microbiome phenotypes that can be integrated with other 'omics' data sets to enhance precision medicine.
February 22, 2018: Genome Medicine
Fatemeh Mokhtari, W Jack Rejeski, Yingying Zhu, Guorong Wu, Sean L Simpson, Jonathan H Burdette, Paul J Laurienti
More than one-third of adults in the United States are obese, with a higher prevalence among older adults. Obesity among older adults is a major cause of physical dysfunction, hypertension, diabetes, and coronary heart diseases. Many people who engage in lifestyle weight loss interventions fail to reach targeted goals for weight loss, and most will regain what was lost within 1-2 years following cessation of treatment. This variability in treatment efficacy suggests that there are important phenotypes predictive of success with intentional weight loss that could lead to tailored treatment regimen, an idea that is consistent with the concept of precision-based medicine...
February 19, 2018: NeuroImage
Eric B Laber, Fan Wu, Catherine Munera, Ilya Lipkovich, Salvatore Colucci, Steve Ripa
There is growing interest and investment in precision medicine as a means to provide the best possible health care. A treatment regime formalizes precision medicine as a sequence of decision rules, one per clinical intervention period, that specify if, when and how current treatment should be adjusted in response to a patient's evolving health status. It is standard to define a regime as optimal if, when applied to a population of interest, it maximizes the mean of some desirable clinical outcome, such as efficacy...
February 21, 2018: Statistics in Medicine
Sadia Saeed, Muhammad Arslan, Philippe Froguel
OBJECTIVE: Consanguinity has been instrumental in the elucidation of many Mendelian genetic diseases. Here, the unique advantage of consanguineous populations was considered in the quest for genes causing obesity. METHODS: PubMed was searched for articles relevant to consanguinity and obesity published between 1995 and 2016. Some earlier articles of interest were also consulted. RESULTS: Although obesity is the most heritable disorder, even in outbred populations, only 2% to 5% of severe obesity cases have so far been proven to be caused by single gene mutations...
March 2018: Obesity
Satoshi Ueshima, Daiki Hira, Yuuma Kimura, Ryo Fujii, Chiho Tomitsuka, Takuya Yamane, Yohei Tabuchi, Tomoya Ozawa, Hideki Itoh, Seiko Ohno, Minoru Horie, Tomohiro Terada, Toshiya Katsura
AIMS: This study aimed to analyse the effects of genetic polymorphisms in drug transporters and metabolising enzymes, and clinical laboratory data on the pharmacokinetic parameters of apixaban. METHODS: Data were collected from 81 Japanese patients with atrial fibrillation. Pharmacogenomic data were stratified by ABCB1, ABCG2, and CYP3A5 polymorphisms. The pharmacokinetic profile of apixaban was described by a one-compartment model with first-order absorption. Population pharmacokinetic analysis was conducted using non-linear mixed effect modelling (NONMEM™) program...
February 19, 2018: British Journal of Clinical Pharmacology
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