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https://www.readbyqxmd.com/read/29779613/facial-plastic-surgery-in-the-geriatric-population
#1
REVIEW
Ian Newberry, Eric W Cerrati, J Regan Thomas
Greater life expectancy with advancements in technology and medicine has led to an increasing interest in facial rejuvenation. Facial aging is an inevitable process that largely results from soft tissue descent and volumetric deflation. However, a comprehensive knowledge of the aging process and precise assessment of the exact pathologies yielding the patient's senescent appearance is essential to produce the best cosmetic outcome. The surgeon must evaluate each region independently and the aging face as a whole to ensure a pleasing, natural appearance...
May 17, 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29777253/translation-inhibition-corrects-aberrant-localization-of-mutant-alanine-glyoxylate-aminotransferase-possible-therapeutic-approach-for-hyperoxaluria
#2
Ruth Belostotsky, Roman Lyakhovetsky, Michael Y Sherman, Fanny Shkedy, Shimrit Tzvi-Behr, Roi Bar, Bernd Hoppe, Björn Reusch, Bodo B Beck, Yaacov Frishberg
Primary hyperoxaluria type 1 is a severe kidney stone disease caused by abnormalities of the peroxisomal alanine-glyoxylate aminotransferase (AGT). The most frequent mutation G170R results in aberrant mitochondrial localization of the active enzyme. To evaluate the population of peroxisome-localized AGT, we developed a quantitative Glow-AGT assay based on the self-assembly split-GFP approach and used it to identify drugs that can correct mislocalization of the mutant protein. In line with previous reports, the Glow-AGT assay showed that mitochondrial transport inhibitors DECA and monensin increased peroxisomal localization of the mutant...
May 18, 2018: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29774312/breast-cancer-prevention-current-approaches-and-future-directions
#3
REVIEW
Edward R Sauter
The topic of breast cancer prevention is very broad. All aspects of the topic, therefore, cannot be adequately covered in a single review. The objective of this review is to discuss strategies in current use to prevent breast cancer, as well as potential approaches that could be used in the future. This review does not discuss early detection strategies for breast cancer, including breast cancer screening. The breast is the most common site among women worldwide of noncutaneous cancer. Many clinical and genetic factors have been found to increase a woman's risk of developing the disease...
April 2018: European journal of breast health
https://www.readbyqxmd.com/read/29773999/fitts-law-in-the-control-of-isometric-grip-force-with-naturalistic-targets
#4
Zachary C Thumser, Andrew B Slifkin, Dylan T Beckler, Paul D Marasco
Fitts' law models the relationship between amplitude, precision, and speed of rapid movements. It is widely used to quantify performance in pointing tasks, study human-computer interaction, and generally to understand perceptual-motor information processes, including research to model performance in isometric force production tasks. Applying Fitts' law to an isometric grip force task would allow for quantifying grasp performance in rehabilitative medicine and may aid research on prosthetic control and design...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29773873/therapeutic-nanoparticles-penetrate-leaves-and-deliver-nutrients-to-agricultural-crops
#5
Avishai Karny, Assaf Zinger, Ashima Kajal, Janna Shainsky-Roitman, Avi Schroeder
As the world population grows, there is a need for efficient agricultural technologies to provide global food requirements and reduce environmental toll. In medicine, nanoscale drug delivery systems grant improved therapeutic precision by overcoming biological barriers and enhancing drug targeting to diseased tissues. Here, we loaded nanoscale drug-delivery systems with agricultural nutrients, and applied them to the leaves of tomato plants. We show that the nanoparticles - liposomes composed of plant-derived lipids, penetrate the leaf and translocate in a bidirectional manner, distributing to other leaves and to the roots...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29764494/precision-medicine-becomes-reality-tumor-type-agnostic-therapy
#6
REVIEW
Li Yan, Wei Zhang
Precision medicine just witnessed two breakthroughs in oncology in 2017. Pembrolizumab (Keytruda), Merck's anti-programmed cell death-1 (PD-1) monoclonal antibody (mAb), received accelerated approval in May 2017 by the US Food and Drug Administration for the treatment of adult and pediatric patients with unresectable or metastatic solid tumors that have been identified as having microsatellite instability-high (MSI-H) or deficient DNA mismatch repair (dMMR). Shortly after, nivolumab (Opdivo), Bristol-Myers Squibb's anti-PD-1 mAb, gained an accelerated approval in August 2017 for adult and pediatric patients with MSI-H or dMMR metastatic colorectal cancer that has progressed after standard chemotherapy...
March 31, 2018: Cancer communications
https://www.readbyqxmd.com/read/29758342/next-generation-sequencing-in-drug-development-target-identification-and-genetically-stratified-clinical-trials
#7
REVIEW
Abolfazl Doostparast Torshizi, Kai Wang
Next-generation sequencing (NGS) enabled high-throughput analysis of genotype-phenotype relationships on human populations, ushering in a new era of genetics-informed drug development. The year 2017 was remarkable, with the first FDA-approved gene therapy for cancer (Kymriah™) and for inherited diseases (LUXTURNA™), the first multiplex NGS panel for companion diagnostics (MSK-IMPACT™) and the first drug targeting a genetic signature rather than a disease (Keytruda® ). We envision that population-scale NGS with paired electronic health records (EHRs) will become a routine measure in the drug development process for the identification of novel drug targets, and that genetically stratified clinical trials could be widely adopted to improve power in precision-medicine-guided drug development...
May 11, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29754960/high-level-precise-knockin-of-ipscs-by-simultaneous-reprogramming-and-genome-editing-of-human-peripheral-blood-mononuclear-cells
#8
Wei Wen, Xinxin Cheng, Yawen Fu, Feiying Meng, Jian-Ping Zhang, Lu Zhang, Xiao-Lan Li, Zhixue Yang, Jing Xu, Feng Zhang, Gary D Botimer, Weiping Yuan, Changkai Sun, Tao Cheng, Xiao-Bing Zhang
We have developed an improved episomal vector system for efficient generation of integration-free induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells. More recently, we reported that the use of an optimized CRISPR-Cas9 system together with a double-cut donor increases homology-directed repair-mediated precise gene knockin efficiency by 5- to 10-fold. Here, we report the integration of blood cell reprogramming and genome editing in a single step. We found that expression of Cas9 and KLF4 using a single vector significantly increases genome editing efficiency, and addition of SV40LT further enhances knockin efficiency...
May 4, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#9
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29744858/heterogeneity-in-risk-of-prostate-cancer-a-swedish-population-based-cohort-study-of-competing-risks-and-type-2-diabetes-mellitus
#10
Christel Häggström, Mieke Van Hemelrijck, Hans Garmo, David Robinson, Pär Stattin, Mark Rowley, Anthony C C Coolen, Lars Holmberg
Most previous studies of prostate cancer have not taken into account that men in the studied populations are also at risk of competing event, and that these men may have different susceptibility to prostate cancer risk. The aim of this study was to investigate heterogeneity in risk of prostate cancer, using a recently developed latent class regression method for competing risks. We further aimed to elucidate the association between type 2 diabetes mellitus (T2DM) and prostate cancer risk, and to compare the results with conventional methods for survival analysis...
May 9, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29740579/the-role-of-genetics-in-advancing-precision-medicine-for-alzheimer-s-disease-a-narrative-review
#11
REVIEW
Yun Freudenberg-Hua, Wentian Li, Peter Davies
Alzheimer's disease (AD) is the most common type of dementia, which has a substantial genetic component. AD affects predominantly older people. Accordingly, the prevalence of dementia has been rising as the population ages. To date, there are no effective interventions that can cure or halt the progression of AD. The only available treatments are the management of certain symptoms and consequences of dementia. The current state-of-the-art medical care for AD comprises three simple principles: prevent the preventable, achieve early diagnosis, and manage the manageable symptoms...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29735690/precise-detection-of-de-novo-single-nucleotide-variants-in-human-genomes
#12
Laura Gómez-Romero, Kim Palacios-Flores, José Reyes, Delfino García, Margareta Boege, Guillermo Dávila, Margarita Flores, Michael C Schatz, Rafael Palacios
The precise determination of de novo genetic variants has enormous implications across different fields of biology and medicine, particularly personalized medicine. Currently, de novo variations are identified by mapping sample reads from a parent-offspring trio to a reference genome, allowing for a certain degree of differences. While widely used, this approach often introduces false-positive (FP) results due to misaligned reads and mischaracterized sequencing errors. In a previous study, we developed an alternative approach to accurately identify single nucleotide variants (SNVs) using only perfect matches...
May 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29733733/characteristics-of-likely-precision-medicine-initiative-participants-drawn-from-a-large-blood-donor-population
#13
Cinnamon S Bloss, Justin Stoler, Cynthia E Schairer, Sara B Rosenthal, Cynthia Cheung, Holly M Rus, Jessica L Block, Jiue-An Jay Yang, Doug Morton, Helen Bixenman, David Wellis
A goal of the Precision Medicine Initiative All of Us Research Program (AoURP) is recruitment of participants who reflect the diversity of the US. Recruitment from among blood bank donors, which may better reflect the demographic makeup of local communities, is one proposed strategy. We evaluated this strategy by analyzing the results of a survey of San Diego Blood Bank donors conducted in November 2015. Whites were more likely than nonwhites to respond to the survey (7.1 percent versus 3.9 percent). However, race was not a significant predictor of interest in participating in precision medicine research...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29733732/lack-of-diversity-in-genomic-databases-is-a-barrier-to-translating-precision-medicine-research-into-practice
#14
Latrice G Landry, Nadya Ali, David R Williams, Heidi L Rehm, Vence L Bonham
Precision medicine is predicted to revolutionize the clinical practice of medicine, in part by using molecular biomarkers to assess patients' risk, prognosis, and therapeutic response more precisely. However, reliance on biomarkers could present challenges for diverse populations that are not equitably represented in precision medicine research. We examined the populations included in genomic studies whose data were available in the following two public databases: the Genome-Wide Association Study Catalog and the database of Genotypes and Phenotypes...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29733723/real-world-evidence-in-support-of-precision-medicine-clinico-genomic-cancer-data-as-a-case-study
#15
Vineeta Agarwala, Sean Khozin, Gaurav Singal, Claire O'Connell, Deborah Kuk, Gerald Li, Anala Gossai, Vincent Miller, Amy P Abernethy
The majority of US adult cancer patients today are diagnosed and treated outside the context of any clinical trial (that is, in the real world). Although these patients are not part of a research study, their clinical data are still recorded. Indeed, data captured in electronic health records form an ever-growing, rich digital repository of longitudinal patient experiences, treatments, and outcomes. Likewise, genomic data from tumor molecular profiling are increasingly guiding oncology care. Linking real-world clinical and genomic data, as well as information from other co-occurring data sets, could create study populations that provide generalizable evidence for precision medicine interventions...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29733722/patient-centered-precision-health-in-a-learning-health-care-system-geisinger-s-genomic-medicine-experience
#16
Marc S Williams, Adam H Buchanan, F Daniel Davis, W Andrew Faucett, Miranda L G Hallquist, Joseph B Leader, Christa L Martin, Cara Z McCormick, Michelle N Meyer, Michael F Murray, Alanna K Rahm, Marci L B Schwartz, Amy C Sturm, Jennifer K Wagner, Janet L Williams, Huntington F Willard, David H Ledbetter
Health care delivery is increasingly influenced by the emerging concepts of precision health and the learning health care system. Although not synonymous with precision health, genomics is a key enabler of individualized care. Delivering patient-centered, genomics-informed care based on individual-level data in the current national landscape of health care delivery is a daunting challenge. Problems to overcome include data generation, analysis, storage, and transfer; knowledge management and representation for patients and providers at the point of care; process management; and outcomes definition, collection, and analysis...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29733717/precision-medicines-have-faster-approvals-based-on-fewer-and-smaller-trials-than-other-medicines
#17
Lisette Pregelj, Thomas J Hwang, Damian C Hine, Evan B Siegel, Ross T Barnard, Jonathan J Darrow, Aaron S Kesselheim
Precision medicines can benefit patients by increasing the probability of a successful treatment response in selected patient populations. The potential for more immediate signals of efficacy during clinical trials suggests such medicines will reach the market more rapidly than traditional drugs will. Using data from the Food and Drug Administration (FDA), we examined the regulatory review and pivotal trial characteristics of precision medicines. We found that in the period January 2013-June 2017, precision medicines were developed and reviewed almost two years faster than nonprecision medicines...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29730761/clinical-pharmacokinetics-and-pharmacodynamics-of-dalcetrapib
#18
REVIEW
Donald M Black, Darren Bentley, Sunny Chapel, Jongtae Lee, Emily Briggs, Therese Heinonen
The cholesterol ester transfer protein (CETP) inhibitor dalcetrapib has been under evaluation for its potential to prevent cardiovascular (CV) events for almost two decades. The current clinical development program, representing new advances in precision medicine and focused on a genetically defined population with acute coronary syndrome (ACS), is supported by a large body of pharmacokinetic and pharmacodynamic data as well as substantial clinical experience in over 13,000 patients and volunteers. Dalcetrapib treatment of 600 mg/day produces significant inhibition of CETP activity, and has been utilized in phase II and III studies, including CV endpoint trials...
May 5, 2018: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/29727688/profiling-and-leveraging-relatedness-in-a-precision-medicine-cohort-of-92-455-exomes
#19
Jeffrey Staples, Evan K Maxwell, Nehal Gosalia, Claudia Gonzaga-Jauregui, Christopher Snyder, Alicia Hawes, John Penn, Ricardo Ulloa, Xiaodong Bai, Alexander E Lopez, Cristopher V Van Hout, Colm O'Dushlaine, Tanya M Teslovich, Shane E McCarthy, Suganthi Balasubramanian, H Lester Kirchner, Joseph B Leader, Michael F Murray, David H Ledbetter, Alan R Shuldiner, George D Yancoupolos, Frederick E Dewey, David J Carey, John D Overton, Aris Baras, Lukas Habegger, Jeffrey G Reid
Large-scale human genetics studies are ascertaining increasing proportions of populations as they continue growing in both number and scale. As a result, the amount of cryptic relatedness within these study cohorts is growing rapidly and has significant implications on downstream analyses. We demonstrate this growth empirically among the first 92,455 exomes from the DiscovEHR cohort and, via a custom simulation framework we developed called SimProgeny, show that these measures are in line with expectations given the underlying population and ascertainment approach...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29727589/genome-sequencing-in-the-clinic-the-past-present-and-future-of-genomic-medicine
#20
Jeremy W Prokop, Thomas May, Kim Strong, Stephanie M Bilinovich, Caleb Bupp, Surender Rajasekaran, Elizabeth A Worthey, Jozef Lazar
Genomic sequencing has undergone massive expansion in the past ten years, opening the door from being a rarely used research tool into an approach that has broad applications in a clinical setting. From rare disease to cancer, genomics is transforming our knowledge of biology. The transition from targeted gene sequencing, to whole exome sequencing, to whole genome sequencing has only been made possible due to rapid advancements in technologies and informatics that have plummeted the cost per base of DNA sequencing and analysis...
May 4, 2018: Physiological Genomics
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