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Precision medicine

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https://www.readbyqxmd.com/read/28921651/somatic-mutation-analysis-of-human-cancers-challenges-in-clinical-practice
#1
Gregory J Tsongalis, William B Coleman
Somatic mutation analysis of human cancers has become the standard of practice. Whether screening for single gene variants or sequencing hundreds of cancer-related genes, this genomic information is the basis for precision medicine initiatives in oncology. Genomic profiling results in information that allows oncologists to make a more educated selection of appropriate therapeutic strategies that more often combine traditional cytotoxic chemotherapy and radiation with novel targeted therapies. Here we discuss the nuances of implementing somatic mutation testing in a clinical setting...
October 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28921643/bridging-adult-experience-to-pediatrics-in-oncology-drug-development
#2
Ruby Leong, Hong Zhao, Gregory Reaman, Qi Liu, Yaning Wang, Clinton F Stewart, Gilbert Burckart
Pediatric drug development in the United States has grown under the current regulations made permanent by the Food and Drug Administration Safety and Innovation Act of 2012. Over 1200 pediatric studies have now been submitted to the US FDA, but there is still a high rate of failure to obtain pediatric labeling for the indication pursued. Pediatric oncology represents special problems in that the disease is most often dissimilar to any cancer found in the adult population. Therefore, the development of drug dosing in pediatric oncology patients represents a special challenge...
October 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28921639/standing-in-the-shifting-sands-of-molecular-targeting-and-precision-medicine-is-the-oasis-of-21st-century-oncology-therapeutics
#3
Lucy Lee, Lionel D Lewis
No abstract text is available yet for this article.
October 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28921531/a-naive-bayes-algorithm-for-tissue-origin-diagnosis-tod-bayes-of-synchronous-multifocal-tumors-in-the-hepatobiliary-and-pancreatic-system
#4
Weiqin Jiang, Yifei Shen, Yongfeng Ding, Chuyu Ye, Yi Zheng, Peng Zhao, Lulu Liu, Zhou Tong, Linfu Zhou, Shuo Sun, Xingchen Zhang, Lisong Teng, Michael P Timko, Longjiang Fan, Weijia Fang
Synchronous multifocal tumors are common in the hepatobiliary and pancreatic system but because of similarities in their histological features, oncologists have difficulty in identifying their precise tissue clonal origin through routine histopathological methods. To address this problem and assist in more precise diagnosis, we developed a computational approach for tissue origin diagnosis based on naive Bayes algorithm (TOD-Bayes) using ubiquitous RNA-Seq data. Massive tissue-specific RNA-Seq data sets were first obtained from The Cancer Genome Atlas (TCGA) and ∼1,000 feature genes were used to train and validate the TOD-Bayes algorithm...
September 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28919879/automated-online-quantification-method-for-18-f-fdg-positron-emission-tomography-ct-improves-detection-of-the-epileptogenic-zone-in-patients-with-pharmacoresistant-epilepsy
#5
Vanessa Cristina Mendes Coelho, Marcia E Morita, Barbara J Amorim, Celso Darío Ramos, Clarissa L Yasuda, Helder Tedeschi, Enrico Ghizoni, Fernando Cendes
AIMS: To assess the validity of an online method to quantitatively evaluate cerebral hypometabolism in patients with pharmacoresistant focal epilepsy as a complement to the visual analysis of the (18)F-FDG positron emission tomography (PET)/CT exam. METHODS: A total of 39 patients with pharmacoresistant epilepsy and probable focal cortical dysplasia [22 patients with frontal lobe epilepsy (FLE) and 17 with temporal lobe epilepsy (TLE)] underwent a presurgical evaluation including EEG, video-EEG, MRI, and (18)F-FDG PET/CT...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28919861/lactobacillus-rhamnosus-gg-an-overview-to-explore-the-rationale-of-its-use-in-cancer
#6
REVIEW
Giuseppe L Banna, Francesco Torino, Francesco Marletta, Maria Santagati, Rossella Salemi, Elisa Cannarozzo, Luca Falzone, Francesco Ferraù, Massimo Libra
Cancer is the second leading cause of death in the western world. In the era of precision medicine, a significant number of cancer patients can be cured with several anti-cancer therapeutic regimens. However, therapy failure may be caused by treatment side effects, such as diarrhea, especially occurring in patients with gastrointestinal or pelvic malignancies. In particular, diarrhea is one of the most frequent gastrointestinal toxicity during cancer treatment and it can result from nearly bot chemo- and radio-therapeutic strategies currently used...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28919063/precision-medicine-diagnosis-and-management-of-obesity
#7
Gema Frühbeck, Dimitrios N Kiortsis, Victoria Catalán
No abstract text is available yet for this article.
September 14, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28918044/targeted-disruption-of-v600e-mutant-braf-gene-by-crispr-cpf1
#8
Meijia Yang, Heng Wei, Yuelong Wang, Jiaojiao Deng, Yani Tang, Liangxue Zhou, Gang Guo, Aiping Tong
BRAF-V600E (1799T > A) is one of the most frequently reported driver mutations in multiple types of cancers, and patients with such mutations could benefit from selectively inactivating the mutant allele. Near this mutation site, there are two TTTN and one NGG protospacer-adjacent motifs (PAMs) for Cpf1 and Cas9 CRISPR nucleases, respectively. The 1799T > A substitution also leads to the occurrence of a novel NGNG PAM for the EQR variant of Cas9. We examined the editing efficacy and selectivity of Cpf1, Cas9, and EQR variant to this mutation site...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917762/full-validation-of-a-method-for-the-determination-of-drugs-of-abuse-in-non-mineralized-dental-biofilm-using-liquid-chromatography-tandem-mass-spectrometry-and-application-to-postmortem-samples
#9
Kerstin Henkel, Markus J Altenburger, Volker Auwärter, Merja A Neukamm
Alternative matrices play a major role in postmortem forensic toxicology, especially if common matrices (like body fluids or hair) are not available. Incorporation of illicit and medicinal drugs into non-mineralized dental biofilm (plaque) seems likely but has not been investigated so far. Analysis of plaque could therefore extend the spectrum of potentially used matrices in postmortem toxicology. For this reason, a rapid, simple and sensitive method for the extraction, determination and quantification of ten drugs of abuse from plaque using liquid chromatography-tandem mass spectrometry (LC-MS/MS) was developed and fully validated...
January 1, 2018: Talanta
https://www.readbyqxmd.com/read/28917263/fourier-transform-infrared-ftir-spectrophotometry-an-ecofriendly-method-for-the-analysis-of-injectable-daptomycin
#10
Eliane Gandolpho Tótoli, Hérida Regina Nunes Salgado
Daptomycin (DPT) is an important antimicrobial agent used in clinical practice because it is very active against several types of medicinally challenging Gram-positive bacteria, such as methicillin-resistant Staphylococcus aureus and vancomycin-resistant Enterococci. In addition to concerns about the quality of the analytical methods used in the QC of drugs, there is also concern about the impact of these methods on the environment. The trend toward sustainable consumption is increasingly evident and has forced the pharmaceutical industry to reduce the generation of toxic waste...
September 1, 2017: Journal of AOAC International
https://www.readbyqxmd.com/read/28917221/determining-the-predictive-equation-for-height-from-ulnar-length-in-the-vietnamese-population
#11
Ana Bonell, Nguyen Nguyen Huyen, Vu Dinh Phu, Heiman Wertheim, Behzad Nadjm
BACKGROUND AND OBJECTIVES: Height is an essential measurement in clinical medicine. It allows the calculation of body mass index, ideal body weight, basic energy requirements and tidal volumes. In many patient groups, such as the critically ill, height cannot be measured easily and surrogate anthropometric measures are used. Regression equations estimating height are specific to ethnicity. We aimed to develop the regression equation for Vietnamese men and women to predict height from ulna length and so improve prescription of life-saving treatment in the intensive care units...
2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28916933/interactions-between-genetics-lifestyle-and-environmental-factors-for-healthcare
#12
Yuxin Lin, Jiajia Chen, Bairong Shen
The occurrence and progression of diseases are strongly associated with a combination of genetic, lifestyle, and environmental factors. Understanding the interplay between genetic and nongenetic components provides deep insights into disease pathogenesis and promotes personalized strategies for people healthcare. Recently, the paradigm of systems medicine, which integrates biomedical data and knowledge at multidimensional levels, is considered to be an optimal way for disease management and clinical decision-making in the era of precision medicine...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28916928/newborn-screening-in-the-era-of-precision-medicine
#13
Lan Yang, Jiajia Chen, Bairong Shen
As newborn screening success stories gained general confirmation during the past 50 years, scientists quickly discovered diagnostic tests for a host of genetic disorders that could be treated at birth. Outstanding progress in sequencing technologies over the last two decades has made it possible to comprehensively profile newborn screening (NBS) and identify clinically relevant genomic alterations. With the rapid developments in whole-genome sequencing (WGS) and whole-exome sequencing (WES) recently, we can detect newborns at the genomic level and be able to direct the appropriate diagnosis to the different individuals at the appropriate time, which is also encompassed in the concept of precision medicine...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28916927/genetic-test-risk-prediction-and-counseling
#14
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/28916926/informatics-for-precision-medicine-and-healthcare
#15
Jiajia Chen, Yuxin Lin, Bairong Shen
The past decade has witnessed great advances in biomedical informatics. Biomedical informatics is an emerging field of healthcare that aims to translate the laboratory observation into clinical practice. Smart healthcare has also developed rapidly with ubiquitous sensor and communication technologies. It is able to capture the online patient-centric phenotypic variables, thus providing a rich information base for translational biomedical informatics. Biomedical informatics and smart healthcare represent two interrelated disciplines...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28916734/fishing-for-answers-in-precision-cancer-medicine
#16
Maurizio Fazio, Leonard I Zon
No abstract text is available yet for this article.
September 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28916653/yap-suppresses-lung-squamous-cell-carcinoma-progression-via-deregulation-of-the-dnp63-gpx2-axis-and-ros-accumulation
#17
Hsinyi Huang, Wenjing Zhang, Yafang Pan, Yijun Gao, Lei Deng, Fuming Li, Fei Li, Xueyan Ma, Shenda Hou, Jing Xu, Peixue Li, Xiaoxun Li, Guohong Hu, Cheng Li, Haiquan Chen, Lei Zhang, Hongbin Ji
Lung squamous cell carcinoma (SCC), accounting for approximately 30% of non-small cell lung cancer, is often refractory to therapy. Screening a small molecule library, we identified digitoxin as a high potency compound for suppressing human lung SCC growth in vitro and in vivo. Mechanistic investigations revealed that digitoxin attenuated YAP phosphorylation and promoted YAP nuclear sequestration. YAP activation led to excessive accumulation of reactive oxygen species (ROS) by downregulating the antioxidant enzyme GPX2 in a manner related to p63 blockade...
September 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28915942/development-of-a-validated-lc-ms-ms-method-for-the-quantification-of-19-endogenous-asthma-copd-potential-urinary-biomarkers
#18
Mona M Khamis, Darryl J Adamko, Anas El-Aneed
Obstructive airways inflammatory diseases sometimes show overlapping symptoms that hinder their early and correct diagnosis. Current clinical tests are tedious and are of inadequate specificity in special population such as the elderly and children. Therefore, we are developing tandem mass spectrometric (MS/MS) methods for targeted analysis of urine biomarkers. Recently, proton-nuclear magnetic resonance ((1)H-NMR) analysis proposed 50 urinary metabolites as potential diagnostic biomarkers among asthma and chronic obstructive pulmonary disease (COPD) patients...
October 9, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28915716/implementation-and-utilization-of-the-molecular-tumor-board-to-guide-precision-medicine
#19
REVIEW
Shuko Harada, Rebecca Arend, Qian Dai, Jessica A Levesque, Thomas S Winokur, Rongjun Guo, Martin J Heslin, Lisle Nabell, L Burt Nabors, Nita A Limdi, Kevin A Roth, Edward E Partridge, Gene P Siegal, Eddy S Yang
BACKGROUND: With rapid advances in genomic medicine, the complexity of delivering precision medicine to oncology patients across a university health system demanded the creation of a Molecular Tumor Board (MTB) for patient selection and assessment of treatment options. The objective of this report is to analyze our progress to date and discuss the importance of the MTB in the implementation of personalized medicine. MATERIALS AND METHODS: Patients were reviewed in the MTB for appropriateness for comprehensive next generation sequencing (NGS) cancer gene set testing based on set criteria that were in place...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28913985/asthma-biomarkers-do-they-bring-precision-medicine-closer-to-the-clinic
#20
REVIEW
Ioana Agache, Liliana Rogozea
Measurement of biomarkers has been incorporated within clinical research of asthma to characterize the population and to associate the disease with environmental and therapeutic effects. Regrettably, at present, there are no specific biomarkers, none is validated or qualified, and endotype-driven choices overlap. Biomarkers have not yet reached clinical practice and are not included in current asthma guidelines. Last but not least, the choice of the outcome upholding the value of the biomarkers is extremely difficult, since it has to reflect the mechanistic intervention while being relevant to both the disease and the particular person...
November 2017: Allergy, Asthma & Immunology Research
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