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“Precision medicine”

Hannah Kim, So Yoon Kim, Yann Joly
With rapid developments in genomic and digital technologies, genomic data sharing has become a key issue for the achievement of precision medicine in South Korea. The legal and administrative framework for data sharing and protection in this country is currently under intense scrutiny from national and international stakeholders. Policymakers are assessing the relevance of specific restrictions in national laws and guidelines for better alignment with international approaches. This manuscript will consider key issues in international genome data sharing in South Korea, including consent, privacy, security measures, compatible adequacy and oversight, and map out an approach to genomic data sharing that recognizes the importance of patient engagement and responsible use of data in South Korea...
August 18, 2018: Human Genetics
Patrick M Brunner, Ana B Pavel, Saakshi Khattri, Alexandra Leonard, Kunal Malik, Sharon Rose, Shelbi Jim On, Anjali S Vekaria, Claudia Traidl-Hoffmann, Giselle K Singer, Danielle Baum, Patricia Gilleaudeau, Mary Sullivan-Whalen, Judilyn Fuentes-Duculan, Xuan Li, Xiuzhong Zheng, Yeriel Estrada, Sandra Garcet, Huei-Chi Wen, Juana Gonzalez, Israel Coats, Inna Cueto, Avidan U Neumann, Mark G Lebwohl, James G Krueger, Emma Guttman-Yassky
BACKGROUND: IL-22 is potentially a pathogenic cytokine in AD, but molecular effects of IL-22 antagonism have not been defined in humans. OBJECTIVE: We sought to evaluate cellular and molecular effects of IL-22 blockade in tissues from moderate-to-severe AD patients. METHODS: We assessed lesional and non-lesional skin from 59 moderate-to-severe AD patients treated with anti-IL-22 (fezakinumab) vs. placebo (2:1), using transcriptomic and immunohistochemistry analyses...
August 16, 2018: Journal of Allergy and Clinical Immunology
Norbert Maggi, Roberta Gazzarata, Carmelina Ruggiero, Claudio Lombardo, Mauro Giacomini
INTRODUCTION: This article focuses on the integration of omics data in electronic health records and on interoperability aspects relating to big data analysis for precision medicine. METHODS: Omics data integration methods for electronic health record and for systems interoperability are considered, with special reference to the high number of specific software tools used to manage different aspects of patient treatment. This is an important barrier against the use of this integrated approach in daily clinical routine...
August 17, 2018: Tumori
Gabrielle King, Kathryn D Baker, Madelyne A Bisby, Diana Chan, Caitlin S M Cowan, Anthea A Stylianakis, Kelsey S Zimmermann, Rick Richardson
There is a pressing need to improve treatments for anxiety. Although exposure-based therapy is currently the gold-standard treatment, many people either do not respond to this therapy or experience a relapse of symptoms after treatment has ceased. In recent years, there have been many novel pharmacological agents identified in preclinical research that have potential as adjuncts for exposure therapy, yet very few of these are regularly integrated into clinical practice. Unfortunately, the robust effects observed in the laboratory animal often do not translate to a clinical population...
August 16, 2018: Psychopharmacology
Sun-Young Lee, Sery Lim, Dong-Hyu Cho
A 16-year-old female with Ewing sarcoma, a very rare disease with poor prognosis in women, was admitted to the hospital with abdominal pain. Diagnostic laparotomy revealed the Ewing sarcoma originating from the extramural uterus. Histological examination yielded positive test results for CD99, vimentin, S-100, eosin 5-maleimide and periodic acid-Shiff. EWS-FLI1 type 1 translocation was confirmed. Fibroblast growth factor receptor (FGFR) 4 (c.1162G> A) and HRas proto-oncogene (HRAS; c.182A> G) mutations were also detected...
August 2018: Experimental and Therapeutic Medicine
Stephen P Robertson, Jennie Harre Hindmarsh, Sarah Berry, Vicky A Cameron, Murray P Cox, Ofa Dewes, Robert N Doughty, George Gray, Jessie C Jacobsen, Albert Laurence, Elizabeth Matisoo-Smith, Susan Morton, Andrew N Shelling, Dianne Sika-Paotonu, Anna Rolleston, Jonathan R Skinner, Russell G Snell, Andrew Sporle, Cristin Print, Tony R Merriman, Maui Hudson, Philip Wilcox
Precision medicine seeks to draw on data from both individuals and populations across disparate domains to influence and support diagnosis, management and prevention in healthcare at the level of the individual patient and their family/whānau. Central to this initiative is incorporating the effects of the inherent variation that lies within genomes and can influence health outcomes. Identifying and interpreting such variation requires an accurate, valid and representative dataset to firstly define what variants are present and then assess the potential relevance for the health of a person, their family/whānau and the wider community to which they belong...
August 17, 2018: New Zealand Medical Journal
Barbara L Parsons
An accurate understanding of the clonal origins of tumors is critical for designing effective strategies to treat or prevent cancer and for guiding the field of cancer risk assessment. The intent of this review is to summarize evidence of multiclonal tumor origin and, thereby, contest the commonly held assumption of monoclonal tumor origin. This review describes relevant studies of X chromosome inactivation, analyses of tumor heterogeneity using other markers, single cell sequencing, and lineage tracing studies in aggregation chimeras and engineered rodent models...
July 2018: Mutation Research
Jian-Wei Dong, Xue-Jiao Li, Le Cai, Jun-You Shi, Yu-Feng Li, Cui Yang, Zhen-Jie Li
Stephania epigaea Lo is an important herbal medicine used as antiphlogistic and analgesic drugs. Its major components are dicentrine (1) and sinomenine (2). In the present study, a rapid, accurate, and precise method for simultaneous quantitation of dicentrine (1) and sinomenine (2) in S. epigeae using 1 H NMR spectra was developed. The deuterated solvent of DMSO-d6 enabled satisfactory separation of the signals to be integrated in 1 H NMR spectrum and dimethyl terephthalate was selected as an internal standard...
August 6, 2018: Journal of Pharmaceutical and Biomedical Analysis
Juliane Lippert, Silke Appenzeller, Raimunde Liang, Silviu Sbiera, Stefan Kircher, Barbara Altieri, Indrajit Nanda, Isabel Weigand, Andrea Gehrig, Sonja Steinhauer, Renzo J M Riemens, Andreas Rosenwald, Clemens R Müller, Matthias Kroiss, Simone Rost, Martin Fassnacht, Cristina L Ronchi
Context: Adrenocortical carcinoma (ACC) has a heterogeneous prognosis and current medical therapies have limited efficacy in its advanced stages. Genome-wide multi-omics-studies identified molecular patterns associated with clinical outcome. Objective: Here, we aimed at identifying a molecular signature useful for both personalized prognostic stratification and druggable targets, using methods applicable in clinical routine. Design: 117 tumor samples from 107 ACC patients were analyzed...
August 2, 2018: Journal of Clinical Endocrinology and Metabolism
Wei Zhan, Celeste A Shelton, Phil J Greer, Randall E Brand, David C Whitcomb
Pancreatic cancer requires many genetic mutations. Combinations of underlying germline variants and environmental factors may increase the risk of cancer and accelerate the oncogenic process. We systematically reviewed, annotated, and classified previously reported pancreatic cancer-associated germline variants in established risk genes. Variants were scored using multiple criteria and binned by evidence for pathogenicity, then annotated with published functional studies and associated biological systems/pathways...
September 2018: Pancreas
E F Gaffney, P H Riegman, W E Grizzle, P H Watson
The decision to use 10% neutral buffered formalin fixed, paraffin embedded (FFPE) archival pathology material may be dictated by the cancer research question or analytical technique, or may be governed by national ethical, legal and social implications (ELSI), biobank, and sample availability and access policy. Biobanked samples of common tumors are likely to be available, but not all samples will be annotated with treatment and outcomes data and this may limit their application. Tumors that are rare or very small exist mostly in FFPE pathology archives...
August 16, 2018: Biotechnic & Histochemistry: Official Publication of the Biological Stain Commission
Eliza Gordon-Lipkin, Ali Fatemi
Leukodystrophies are a heterogeneous class of genetic diseases affecting the white matter in the central nervous system with a broad range of clinical manifestations and a frequently progressive course. An interest in precision medicine has emerged over the last several decades, and biomedical research in leukodystrophies has made exciting advances along this front through therapeutic target discovery and novel disease model systems. In this review, we discuss current and emerging therapeutic approaches in leukodystrophies, including gene therapy, antisense oligonucleotide therapy, CRISPR/CAS-based gene editing, and cell and stem cell based therapies...
August 16, 2018: Journal of Child Neurology
Jorge I Vélez, Francisco Lopera, Penelope K Creagh, Laura B Piñeros, Debjani Das, Martha L Cervantes-Henríquez, Johan E Acosta-López, Mario A Isaza-Ruget, Lady G Espinosa, Simon Easteal, Gustavo A Quintero, Claudia Tamar Silva, Claudio A Mastronardi, Mauricio Arcos-Burgos
The identification of novel genetic variants contributing to the widespread in the age of onset (AOO) of Alzheimer's disease (AD) could aid in the prognosis and/or development of new therapeutic strategies focused on early interventions. We recruited 78 individuals with AD from the Paisa genetic isolate in Antioquia, Colombia. These individuals belong to the world largest multigenerational and extended pedigree segregating AD as a consequence of a dominant fully penetrant mutation in the PSEN1 gene and exhibit an AOO ranging from the early 1930s to the late 1970s...
August 15, 2018: Molecular Neurobiology
Ying Nie, Weifeng Yao
The quantitative analysis of multiple indexes remains an important quality evaluation method of traditional Chinese medicine (TCM) herbal formulas. The Chinese Pharmacopoeia 2015 only stipulates the content of a single component, specnuezhenide, in Erzhiwan composed of the Fructus Ligustri Lucidi (FLL) powder and aqueous extracts of Herba Ecliptae (HE). To generalize the intrinsic quality of Erzhiwan, a novel C30 -HPLC method with good precision, accuracy, and reproducibility was developed for the simultaneous determination of six compounds, including two isomers, and then an analytic hierarchy process was further applied to integrate and discriminate the quality of four samples prepared via different methods...
August 15, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Kuo Liu, Wei Yu, Muxue Tang, Juan Tang, Xiuxiu Liu, Qiaozhen Liu, Yan Li, Lingjuan He, Libo Zhang, Sylvia M Evans, Xueying Tian, Kathy O Lui, Bin Zhou
In vivo genomic engineering is instrumental for studying developmental biology and regenerative medicine. Development of novel systems with more site-specific recombinases (SSRs) that complement with the commonly used Cre-loxP would be valuable for more precise lineage tracing and genome editing. Here we introduce a new SSR system via Nigri-nox. By generating tissue-specific Nigri knock-in and its responding nox reporter mice, we show that Nigri-nox system works efficiently in vivo by targeting specific tissues...
August 15, 2018: Development
Jordan E Bisanz, Peter Spanogiannopoulos, Lindsey M Pieper, Annamarie E Bustion, Peter J Turnbaugh
With a paradigm shift occurring in health care towards personalized and precision medicine, understanding the numerous environmental factors that impact drug disposition is of paramount importance. The highly diverse and variant nature of the human microbiome is now recognized as a factor driving inter-individual variation in therapeutic outcomes. The purpose of this review is to provide a practical guide on methodology that can be applied to study the effects of microbes on the absorption, distribution, metabolism, and excretion of drugs...
August 15, 2018: Drug Metabolism and Disposition: the Biological Fate of Chemicals
Yan-Bin Pang, Ping Wu, Luo-Ming Hua, Xin DU, Jing Wang
The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal myeloid disorders characterized by ineffective hematopoiesis and increased risk of transformation to acute myelogenous leukemia (AML). The treatment of MDS is highly dependent on the reliability of the prognostic evaluation model. Current clinical prognostic scoring systems are comprised of morphology, pivotal clinical trials and cytogenetic findings. However, none of the available prognostic systems incorporates disease-related molecular abnormalities, such as somatic mutations...
August 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Wen-Tian Su, Yue-Jun Liu, Yan-Feng Jiang, Jian-Qiu Xie, Xin-He Pan, Jing-Jing Liu, Jin-Ping Si
Field surveys and literatures show that Polygonati Rhizome (Huangjing) was firstly recorded in Shen Nong&s Herbal Classic, and widely used as a medicinal and edible plant. It has a long history of cultivation, and the researches on chemistry have made some progress. The future development is prospected on health market. But the Polygonati Rhizome industry has faced a lot of problems, including the resource depletion, unstable quality, low-tech in cultivation and germplasm confusion, unclear of functional composition, decentralized, small scaled and primary processing products...
July 2018: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
Ya-Dong Hao, Dong-Hui Li, Jian-Nong Wang
Standard decoction of traditional Chinese medicine (TCM) is prepared by standardized process, and can be used as references to evaluate the quality of dosage forms such as decoction and dispensing granules. In order to determine the quality evaluation method for standard decoction of Chrysanthemi Flos and investigate its application, 10 batches of white chrysanthemum of Hangzhou were collected to prepare the standard decoction of white chrysanthemum of Hangzhou with standardized process parameters. Parameters such as traits, relative density, pH value, extraction ratio, transfer rate and fingerprint were selected as the indexes for quality evaluation...
July 2018: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
Yifei Dai, Liang Sun, Weijie Qiang
Currently, cancer has become one of the major refractory diseases threatening human health. Complementary and alternative medicine (CAM) has gradually become an alternative choice for patients, which can be attributed to the high cost of leading cancer treatments (including surgery, radiotherapy, and chemotherapy) and the severe related adverse effects. As a critical component of CAM, traditional Chinese medicine (TCM) has increasing application in preventing and treating cancer over the past few decades. Huanglian Jiedu Decoction (HJD), a classical Chinese compound formula, has been recognized to exert a beneficial effect on cancer treatment, with few adverse effects reported...
2018: Evidence-based Complementary and Alternative Medicine: ECAM
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