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https://www.readbyqxmd.com/read/28339912/pharmacogenomics-and-patient-treatment-parameters-to-opioid-treatment-in-chronic-pain-a-focus-on-morphine-oxycodone-tramadol-and-fentanyl
#1
Renae A Lloyd, Elizabeth Hotham, Catherine Hall, Marie Williams, Vijayaprakash Suppiah
Objective. : Opioids are one of the most commonly prescribed medicines for chronic pain. However, their use for chronic pain has been controversial. The objective of this literature review was to identify the role of genetic polymorphisms on patient treatment parameters (opioid dose requirements, response, and adverse effects) for opioids used in malignant and nonmalignant chronic pain. The opioids that this review focuses on are codeine, morphine, oxycodone, tramadol, and fentanyl...
February 24, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#2
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28339300/genetic-manipulation-by-zinc-finger-nucleases-in-rat-induced-pluripotent-stem-cells
#3
Sheng Yang, Shufang Ding, Qianhua Xu, Xiong Li, Qiong Xiong
Induced pluripotent stem cells (iPSCs) have an extensive application in regenerative medicine, pharmaceutical discovery, and basic research. With the recent derivation of rat iPSCs, it is now feasible to apply genetic manipulation in this species. But such tools do not yet exist for many rat strains, especially for disease model rat. The Sprague Dawley (SD) rat is an inbred disease model for hypertension, nephropathy, pulmonary hypertension, depression, and alcohol consumption. In this study, the SD rat iPSCs were generated using lentiviral method...
March 24, 2017: Cellular Reprogramming
https://www.readbyqxmd.com/read/28337931/utilizing-nutritional-genomics-to-tailor-diets-for-the-prevention-of-cardiovascular-disease-a-guide-for-upcoming-studies-and-implementations
#4
Dolores Corella, Oscar Coltell, George Mattingley, José V Sorlí, Jose M Ordovas
Personalized diets based on an individual's genome to optimize the success of dietary intervention and reduce genetic cardiovascular disease (CVD) risk, is one of the challenges most frequently discussed in the scientific community. Areas covered: The authors gathered literature-based evidence on nutritional genomics and CVD phenotypes, our own results and research experience to provide a critical overview of the current situation of using nutritional genomics to tailor diets for CVD prevention and to propose guidelines for future studies and implementations...
March 24, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#5
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28337437/bioengineering-approaches-to-mature-human-pluripotent-stem-cell-derived-cardiomyocytes
#6
REVIEW
Xuetao Sun, Sara S Nunes
Human pluripotent stem cell-derived cardiomyocytes (hPSC-CM) represent a potential unlimited cell supply for cardiac tissue engineering and possibly regenerative medicine applications. However, hPSC-CMs produced by current protocols are not representative of native adult human cardiomyocytes as they display immature gene expression profile, structure and function. In order to improve hPSC-CM maturity and function, various approaches have been developed, including genetic manipulations to induce gene expression, delivery of biochemical factors, such as triiodothyronine and alpha-adrenergic agonist phenylephrine, induction of cell alignment in 3D tissues, mechanical stress as a mimic of cardiac load and electrical stimulation/pacing or a combination of these...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28337389/development-of-microsatellite-markers-using-illumina-miseq-sequencing-to-characterize-ephedra-gerardiana-ephedraceae
#7
Ji De, Weidong Zhu, Tianmeng Liu, Zhe Wang, Yang Zhong
PREMISE OF THE STUDY: Ephedragerardiana (Ephedraceae), occurring in the Himalayan ranges, is an important plant species used in Tibetan medicine. Due to the lack of molecular markers to characterize genetic diversity, knowledge for conservation and uses of E. gerardiana resources is limited; we therefore developed microsatellite markers for use in this species. METHODS AND RESULTS: Using Illumina MiSeq sequencing technology, we developed 29 polymorphic microsatellite loci suitable for E...
March 2017: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28334154/ethical-issues-of-crispr-technology-and-gene-editing-through-the-lens-of-solidarity
#8
John J Mulvihill, Benjamin Capps, Yann Joly, Tamra Lysaght, Hub A E Zwart, Ruth Chadwick
Background: The avalanche of commentaries on CRISPR-Cas9 technology, a bacterial immune system modified to recognize any short DNA sequence, cut it out, and insert a new one, has rekindled hopes for gene therapy and other applications and raised criticisms of engineering genes in future generations. Sources of data: This discussion draws on articles that emphasize ethics, identified partly through PubMed and Google, 2014-2016. Areas of agreement: CRISPR-Cas9 has taken the pace and prospects for genetic discovery and applications to a high level, stoking anticipation for somatic gene engineering to help patients...
February 23, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28333919/exome-sequencing-based-molecular-autopsy-of-formalin-fixed-paraffin-embedded-tissue-after-sudden-death
#9
Richard D Bagnall, Jodie Ingles, Laura Yeates, Samuel F Berkovic, Christopher Semsarian
PURPOSE: Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome sequencing-based molecular autopsy after sudden death in the young. METHODS: We collected clinical and postmortem information from patients with sudden death...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28333918/21-gene-recurrence-score-testing-among-medicare-beneficiaries-with-breast-cancer-in-2010-2013
#10
Julie A Lynch, Brygida Berse, Nicole Coomer, John Kautter
PURPOSE: We evaluated national patient-level utilization of the 21-gene recurrence score (21-gene RS) test among Medicare beneficiaries with breast cancer. We analyzed clinical, demographic, and regional factors that predict testing. METHODS: Using 2010-2013 Medicare claims, we conducted a retrospective study of breast cancer patients. The outcome variable was whether the patient underwent testing. Independent variables expected to predict testing were age, gender, race, Medicaid status, clinical characteristics, and hospital referral region (HRR)...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28333917/a-clinical-utility-study-of-exome-sequencing-versus-conventional-genetic-testing-in-pediatric-neurology
#11
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner, Simone van der Burg, Janneke Grutters, Joris A Veltman, Michèl A A P Willemsen
PURPOSE: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. METHODS: We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28333916/genetic-susceptibility-to-bilateral-tinnitus-in-a-swedish-twin-cohort
#12
Iris Lianne Maas, Petra Brüggemann, Teresa Requena, Jan Bulla, Niklas K Edvall, Jacob V B Hjelmborg, Agnieszka J Szczepek, Barbara Canlon, Birgit Mazurek, Jose A Lopez-Escamez, Christopher R Cederroth
PURPOSE: Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). METHODS: Cross-sectional data from the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total variance attributable to genetic factors) were calculated using biometrical model fitting procedures...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28333867/determining-risk-of-severe-gastrointestinal-toxicity-based-on-pretreatment-gut-microbial-community-in-patients-receiving-cancer-treatment-a-new-predictive-strategy-in-the-quest-for-personalized-cancer-medicine
#13
Hannah R Wardill, Wim J E Tissing
PURPOSE OF REVIEW: Currently, our ability to accurately predict a patient's risk of developing severe gastrointestinal toxicity from their cancer treatment is limited. Risk stratification continues to rely on traditional patient-related and treatment-related factors including age, ethnicity, sex, comorbidities, genetics, agent, dose and schedule. Although informative, these crude measures continue to underestimate toxicity risk, and hence alternative methods of risk prediction must be investigated...
March 22, 2017: Current Opinion in Supportive and Palliative Care
https://www.readbyqxmd.com/read/28332883/precision-medicine-an-update-on-genotype-biochemical-phenotype-relationships-in-pheochromocytoma-paraganglioma-patients
#14
Garima Gupta, Karel Pacak
Pheochromocytomas and paragangliomas are rare neuroendocrine tumors known to produce and secrete high levels of circulating catecholamines and their metabolites. The biochemical characteristics of these tumors can be used to divide them into three major phenotypes. The adrenergic phenotype comprises of tumors with predominant elevations in epinephrine and metanephrine levels whereas the noradrenergic phenotype is composed of tumors with predominant elevations in norepinephrine and normetanephrine levels. The dopaminergic phenotype is a third rare group composed of tumors mainly secreting dopamine and 3-methoxytyramine...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28332880/precision-medicine-in-adrenal-disorders-the-next-generation
#15
Hans K Ghayee, Aaron I Vinik, Karel Pacak
Exciting new research in the area of adrenal disorders has emerged in the last few years. Advances in genetics, biochemical diagnosis, and imaging modalities have set new standards for diagnosis and treatment. In this brief review, we highlight new developments in adrenal diseases to give clinicians a fresh perspective of this evolving field. We believe that the tremendous knowledge gained thus far sets the stage for not only new precision treatment modalities for individualized care, but also for prevention...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28331464/when-should-genetic-testing-be-performed-in-epilepsy-patients
#16
Annapurna Poduri
This review is a summary of a talk presented at the 2015 American Epilepsy Society Annual Meeting. Its purposes are 1) to review developments in epilepsy genetics, 2) to discuss which groups of patients with epilepsy might benefit from genetic testing, and 3) to present a rational approach to genetic testing in epilepsy in the rapidly evolving era of genomic medicine.
January 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/28330725/a-botanical-phytochemical-and-ethnomedicinal-review-of-the-genus-mitragyna-korth-implications-for-products-sold-as-kratom
#17
REVIEW
Paula N Brown, Jensen A Lund, Susan J Murch
ETHNOPHARMACOLOGICAL RELEVANCE: The genus Mitragyna (Rubiacaeae) has been traditionally used in parts of Africa, Asia and Oceania. In recent years, there has been increased interest in species of Mitragyna with the introduction of products to western markets and regulatory uncertainty. AIM OF THE STUDY: This paper reviewed the traditional ethnomedicinal uses of leaves for species belonging to the genus Mitragyna with reference to the botany and known chemistry in order to highlight areas of interest for products currently being sold as kratom...
March 18, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28330254/enhanced-production-of-an-anti-malarial-compound-artesunate-by-hairy-root-cultures-and-phytochemical-analysis-of-artemisia-pallens-wall
#18
Zarna Pala, Vishnu Shukla, Anshu Alok, Subhash Kudale, Neetin Desai
Artemisinin and its derivatives are still one of the most effective drugs for the treatment of malaria. Artemisia pallens commonly known as Dhavanam, is an aromatic herb belonging to the family Asteraceae. Increasing the artemisinin content of A. pallens by genetic engineering would improve the availability of this much needed drug. In the present study, Agrobacterium rhizogenes (strain NCIM 5140) mediated genetic transformation of Artemisia pallens were carried out for hairy root induction. The effect of different media (Half MS, MS, MS along with BAP 0...
December 2016: 3 Biotech
https://www.readbyqxmd.com/read/28328967/phenotypic-and-molecular-characterization-of-antimicrobial-resistance-in-enterobacter-spp-isolates-from-companion-animals-in-japan
#19
Kazuki Harada, Takae Shimizu, Yujiro Mukai, Ken Kuwajima, Tomomi Sato, Akari Kajino, Masaru Usui, Yutaka Tamura, Yui Kimura, Tadashi Miyamoto, Yuzo Tsuyuki, Asami Ohki, Yasushi Kataoka
The emergence of antimicrobial resistance among Enterobacter spp., including resistance to extended-spectrum cephalosporins (ESC), is of great concern in both human and veterinary medicine. In this study, we investigated the prevalence of antimicrobial resistance among 60 isolates of Enterobacter spp., including E. cloacae (n = 44), E. aerogenes (n = 10), and E. asburiae (n = 6), from clinical specimens of dogs and cats from 15 prefectures in Japan. Furthermore, we characterized the resistance mechanisms harbored by these isolates, including extended-spectrum β-lactamases (ESBLs) and plasmid-mediated quinolone resistance (PMQR); and assessed the genetic relatedness of ESC-resistant Enterobacter spp...
2017: PloS One
https://www.readbyqxmd.com/read/28328372/psychiatric-genomics-and-mental-health-treatment-setting-the-ethical-agenda
#20
Camillia Kong, Michael Dunn, Michael Parker
Realizing the benefits of translating psychiatric genomics research into mental health care is not straightforward. The translation process gives rise to ethical challenges that are distinctive from challenges posed within psychiatric genomics research itself, or that form part of the delivery of clinical psychiatric genetics services. This article outlines and considers three distinct ethical concerns posed by the process of translating genomic research into frontline psychiatric practice and policy making...
April 2017: American Journal of Bioethics: AJOB
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