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“Precision medicine”

Shingo Kato, Takuo Hayashi, Yoshiyuki Suehara, Haruka Hamanoue, Shoji Yamanaka, Yasushi Ichikawa, Takuma Higurashi, Kenichi Ohashi, Shigeo Yamaguchi, Yumi Nozaki, Yasuhisa Terao, Tsuyoshi Saito
Background: Application of next-generation DNA sequencing (NGS) has recently become increasingly common in the field of clinical oncology in several countries around the world. In Japan also, a system for applying NGS to routine clinical practice is gradually being established. During this process, we introduced in Japan the tumor-profiling MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) assay. Methods: We present here our initial experience with the use of MSK-IMPACT in 68 patients selected from two institutions in Japan between June 2016 and October 2017...
December 12, 2018: Japanese Journal of Clinical Oncology
Usha Menon, Kimlin Ashing, Mei Wei Chang, Shannon M Christy, Katarina Friberg-Felsted, Virginia Gil Rivas, Clement K Gwede, Qian Lu, Cathy D Meade, Jamila Sly, Monica Wang, Betina Yanez, Karen Yeary, Jean C Yi, Kassandra I Alcaraz
BACKGROUND: An emphasis on precision health (PH) has stimulated precision medicine studies to focus on the interplay of biological, behavioral, and environmental factors with disease risks, treatments, prognoses, and outcomes affecting health disparities. It is imperative, as well, that improving health equity among underserved populations remains central to the efforts and aims of PH. OBJECTIVES: Apply the transdisciplinary ConNECT Framework: A model for advancing behavioral medicine science and practice to foster health equity to PH by integrating a population health agenda for reducing health disparities...
December 12, 2018: Nursing Research
Valerie A Arboleda, Rena R Xian
The development of rapid parallel sequencing in the last 20 years has begun a revolution in the field of genetics that is changing nearly all disciplines within biology and medicine. Genomic sequencing has become crucial to the diagnosis and clinical management of patients with constitutional diseases and cancer and has quickly become an integral part of the new era of personalized and precision medicine. The precision medicine initiative, released by the NIH in 2015, has catapulted genomic technologies to the forefront of the practice of medicine and biomedical research...
2019: Methods in Molecular Biology
Maya Sabatello
Cultural competence is increasingly viewed as key for the inclusion of diverse populations in precision medicine research (PMR) in the USA. Precision medicine researchers and personnel are thus increasingly expected to undergo cultural competency trainings and to engage with relevant racial/ethnic communities to ensure that all research components are culturally and linguistically sensitive to these communities. However, the need for PMR enterprises to ensure competence with and understanding of disability rights, history, and needs (hereinafter disability culture competency) have not received attention...
December 12, 2018: Journal of Community Genetics
Cesar Mauricio Rodríguez Barrero, Lyle Alberto Romero Gabalan, Edgar Eduardo Roa Guerrero
In the field of medicine, the analysis of blood is one of the most important exams to determine the physiological state of a patient. In the analysis of the blood sample, an important process is the counting and classification of white blood cells, which is done manually, being an exhaustive, subjective, and error-prone activity due to the physical fatigue that generates the professional because it is a method that consumes long laxes of time. The purpose of the research was to develop a system to identify and classify blood cells, by the implementation of the networks of Gaussian radial base functions (RBFN) for the extraction of its nucleus and subsequently their classification through the morphological characteristics, its color, and the distance between objects...
2018: Advances in Hematology
Inkyong Hur, Yong Kyu Lee, Kamyar Kalantar-Zadeh, Yoshitsugu Obi
BACKGROUND: Residual kidney function (RKF) is often expected to inevitably and rapidly decline among hemodialysis patients and, hence, has been inadvertently ignored in clinical practice. The importance of RKF has been revisited in some recent studies. Given that patients with end-stage renal disease now tend to initiate maintenance hemodialysis therapy with higher RKF levels, there seem to be important opportunities for incremental hemo-dialysis by individualizing the dose and frequency according to their RKF levels...
December 11, 2018: Cardiorenal Medicine
Junjing Lin, Margaret Gamalo-Siebers, Ram Tiwari
Drug developers are required to demonstrate substantial evidence of effectiveness through the conduct of adequate and well-controlled (A&WC) studies to obtain marketing approval of their medicine. What constitutes A&WC is interpreted as the conduct of randomized controlled trials (RCTs). However, these trials are sometimes unfeasible because of their size, duration, and cost. One way to reduce sample size is to leverage information on the control through a prior. One consideration when forming data-driven prior is the consistency of the external and the current data...
December 9, 2018: Pharmaceutical Statistics
Elissa Furutani, Peter E Newburger, Akiko Shimamura
Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic neutropenia disorders informs treatment options, enables risk stratification, cancer surveillance, and attention to associated medical complications. The rapidly expanding genetic testing options for the evaluation of neutropenia have led to exciting advances but also new challenges. This review provides a practical guide to germline genetic testing for neutropenia...
December 8, 2018: American Journal of Hematology
Seung Hoan Choi, Lu-Chen Weng, Carolina Roselli, Honghuang Lin, Christopher M Haggerty, M Benjamin Shoemaker, John Barnard, Dan E Arking, Daniel I Chasman, Christine M Albert, Mark Chaffin, Nathan R Tucker, Jonathan D Smith, Namrata Gupta, Stacey Gabriel, Lauren Margolin, Marisa A Shea, Christian M Shaffer, Zachary T Yoneda, Eric Boerwinkle, Nicholas L Smith, Edwin K Silverman, Susan Redline, Ramachandran S Vasan, Esteban G Burchard, Stephanie M Gogarten, Cecelia Laurie, Thomas W Blackwell, Gonçalo Abecasis, David J Carey, Brandon K Fornwalt, Diane T Smelser, Aris Baras, Frederick E Dewey, Cashell E Jaquish, George J Papanicolaou, Nona Sotoodehnia, David R Van Wagoner, Bruce M Psaty, Sekar Kathiresan, Dawood Darbar, Alvaro Alonso, Susan R Heckbert, Mina K Chung, Dan M Roden, Emelia J Benjamin, Michael F Murray, Kathryn L Lunetta, Steven A Lubitz, Patrick T Ellinor
Importance: Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the population. Young individuals with AF have a strong genetic association with the disease, but the mechanisms remain incompletely understood. Objective: To perform large-scale whole-genome sequencing to identify genetic variants related to AF. Design, Setting, and Participants: The National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine Program includes longitudinal and cohort studies that underwent high-depth whole-genome sequencing between 2014 and 2017 in 18 526 individuals from the United States, Mexico, Puerto Rico, Costa Rica, Barbados, and Samoa...
December 11, 2018: JAMA: the Journal of the American Medical Association
David O Arnar, Runolfur Palsson
No abstract text is available yet for this article.
December 10, 2018: JAMA Internal Medicine
Majid Alfadhel
No abstract text is available yet for this article.
November 2018: International Journal of Health Sciences
Sheng-Yan Xi, Gerald Yosel Minuk
Traditional Chinese Medicines (TCMs) have been employed for centuries in the treatment of patients with hepatocellular carcinoma (HCC). Previous reviews of this topic have focused on certain aspects of TCM treatment rather than an overall assessment of their value and mechanisms of action. Both the Chinese and English medical literatures were reviewed to identify where TCM might be of value in the treatment of HCC and the justification for such treatment. TCM treatment corrects the "internal disequilibriums" thought to be responsible for the development, growth, and spread of the tumor...
November 27, 2018: World Journal of Hepatology
Christian Baumgartner, Verena Spath-Blass, Verena Niederkofler, Katharina Bergmoser, Sonja Langthaler, Alexander Lassnig, Theresa Rienmüller, Daniela Baumgartner, Aarti Asnani, Robert E Gerszten
Metabolic biomarkers may play an important role in the diagnosis, prognostication and assessment of response to pharmacological therapy in complex diseases. The process of discovering new metabolic biomarkers is a non-trivial task which involves a number of bioanalytical processing steps coupled with a computational approach for the search, prioritization and verification of new biomarker candidates. Kinetic analysis provides an additional dimension of complexity in time-series data, allowing for a more precise interpretation of biomarker dynamics in terms of molecular interaction and pathway modulation...
2018: PloS One
Afreen Idris Shariff, Sohail Syed, Rebecca A Shelby, Jeremy Force, Jeffrey Melson Clarke, David D'Alessio, Leonor Corsino
Over the last decade, there has been a shift in the focus of cancer therapy from conventional cytotoxic drugs to therapies more specifically directed to cancer cells. These novel therapies include immunotherapy, targeted therapy and precision medicine, each developed in great part with a goal of limiting collateral destruction of normal tissues, while enhancing tumor destruction. Although this approach is sound in theory, even new, specific therapies have some undesirable, 'off target effects', in great part due to molecular pathways shared by neoplastic and normal cells...
February 1, 2019: Journal of Molecular Endocrinology
Manuel Puig-Domingo, Monica Marazuela
Acromegaly is a chronic disorder usually diagnosed late in the disease evolution, leading to substantial morbidity and mortality related to this long period of undiagnosed state as well as the difficulty in achieving normalization of GH hypersecretion and controlling tumour mass. First generation somatostatin analogues (SSA) are accepted as the first-line medical therapy or as second-line therapy in patients undergoing unsuccessful surgery. However, because a high percentage of patients experience SSA treatment failure, the inclusion of biomarkers associated with a successful or non-successful response to these drug ( as well as to all classes of medical therapy) is necessary to better guide the choice of treatment, potentially allowing for a quicker achievement of disease control...
December 7, 2018: Minerva Endocrinologica
Pratik Sinha, Carolyn S Calfee
PURPOSE OF REVIEW: To provide an overview of the current research in identifying homogeneous subgroups and phenotypes in ARDS. RECENT FINDINGS: In recent years, investigations have used either physiology, clinical data, biomarkers or a combination of these to stratify patients with ARDS into distinct subgroups with divergent clinical outcomes. In some studies, there has also been evidence of differential treatment response within subgroups. Physiologic approaches include stratification based on P/F ratio and ventilatory parameters; stratification based on P/F ratio is already being employed in clinical trials...
December 10, 2018: Current Opinion in Critical Care
Paige I Partain, Jacob White, Paul Hammerness
PURPOSE OF REVIEW: To provide an up-to-date clinical review of U.S. Food and Drug Administration (FDA)-approved stimulant medications for attention-deficit/hyperactivity disorder (ADHD), including a framework for individualized treatment by primary care pediatric providers. RECENT FINDINGS: Stimulant medications are first-line agents for pediatric ADHD. Since 2012, 11 novel stimulant medications have been approved by the FDA for the treatment of ADHD. Because of an expanded formulary of available methylphenidate-based and amphetamine-based stimulants, primary care providers may be unfamiliar with some novel medications outside a select formulary...
December 6, 2018: Current Opinion in Pediatrics
Patrick D Ganzer, Gaurav Sharma
The peripheral nervous system plays a major role in the maintenance of our physiology. Several peripheral nerves intimately regulate the state of the brain, spinal cord, and visceral systems. A new class of therapeutics, called bioelectronic medicines, are being developed to precisely regulate physiology and treat dysfunction using peripheral nerve stimulation. In this review, we first discuss new work using closed-loop bioelectronic medicine to treat upper limb paralysis. In contrast to open-loop bioelectronic medicines, closed-loop approaches trigger 'on demand' peripheral nerve stimulation due to a change in function (e...
January 2019: Neural Regeneration Research
Paulina Kaplonek, Naeem Khan, Katrin Reppe, Benjamin Schumann, Madhu Emmadi, Marilda P Lisboa, Fei-Fei Xu, Adam D J Calow, Sharavathi G Parameswarappa, Martin Witzenrath, Claney L Pereira, Peter H Seeberger
Streptococcus pneumoniae remains a deadly disease in small children and the elderly even though conjugate and polysaccharide vaccines based on isolated capsular polysaccharides (CPS) are successful. The most common serotypes that cause infection are used in vaccines around the world, but differences in geographic and demographic serotype distribution compromises protection by leading vaccines. The medicinal chemistry approach to glycoconjugate vaccine development has helped to improve the stability and immunogenicity of synthetic vaccine candidates for several serotypes leading to the induction of higher levels of specific protective antibodies...
December 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
Adnan Shakoor, Mingyang Xie, Tao Luo, Jundi Hou, Yajing Shen, James K Mills, Dong Sun
Single cell surgery such as manipulation or removal of subcellular components or/and organelles from single cells is increasingly used for the study of diseases and their causes in precision medicine. This paper presents a robotic surgery system to achieve automated organelle biopsy of single cells with dimensions of less than 20 μm in diameter. The complexity of spatial detection of the organelle position is reduced by patterning the cells using a microfluidic chip device. A sliding mode nonlinear controller is developed to enable extraction of organelles, such as the mitochondria and the nucleus, from single cells with high precision...
December 10, 2018: IEEE Transactions on Bio-medical Engineering
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