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Genetic tests for medication use

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https://www.readbyqxmd.com/read/29230699/predictive-psychiatric-genetic-testing-in-minors-an-exploration-of-the-non-medical-benefits
#1
Arianna Manzini, Danya F Vears
Predictive genetic testing for susceptibility to psychiatric conditions is likely to become part of standard practice. Because the onset of most psychiatric diseases is in late adolescence or early adulthood, testing minors could lead to early identification that may prevent or delay the development of these disorders. However, due to their complex aetiology, psychiatric genetic testing does not provide the immediate medical benefits that current guidelines require for testing minors. While several authors have argued non-medical benefits may play a crucial role in favour of predictive testing for other conditions, little research has explored such a role in psychiatric disorders...
December 11, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/29226640/association-of-paraoxonase-1-polymorphism-and-serum-25-hydroxyvitamin-d-with-the-risk-of-cardiovascular-disease-in-patients-with-rheumatoid-arthritis
#2
Sawsan O Khoja, Yasser El Miedany, Archana P Iyer, Sami M Bahlas, Khadijah S Balamash, Mohamed F Elshal
BACKGROUND: Patients with rheumatoid arthritis (RA) have significantly increased cardiovascular (CV) morbidity and mortality that are not accounted for by traditional risk factors alone. Paraoxonase 1 (PON1) and 25-hydroxyvitamin D have been shown to be involved in the pathogenesis of CV diseases. Objective: This study aimed to investigate PON1 gene polymorphism and serum 25-hydroxyvitamin D concentrations in RA patients, and to determine their association with CV risk in RA. METHODS: Serum samples from 46 RA patients and 45 healthy controls were tested for PON1 R192Q genotypes and serum vitamin D concentrations...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29211835/massive-iatrogenic-outbreak-of-human-immunodeficiency-virus-type-1-in-rural-cambodia-2014-2015
#3
François Rouet, Janin Nouhin, Du-Ping Zheng, Benjamin Roche, Allison Black, Sophearot Prak, Marie Leoz, Catherine Gaudy-Graffin, Laurent Ferradini, Chandara Mom, Sovatha Mam, Charlotte Gautier, Gérard Lesage, Sreymom Ken, Kerya Phon, Alexandra Kerleguer, Chunfu Yang, William Killam, Masami Fujita, Chhivun Mean, Didier Fontenille, Francis Barin, Jean-Christophe Plantier, Trevor Bedford, Artur Ramos, Vonthanak Saphonn
Background: In 2014-2015, 242 individuals aged 2-89 were newly HIV-1 diagnosed in Roka, a rural commune in Cambodia. A case-control study attributed the outbreak to unsafe injections. We aimed to reconstruct the likely transmission history of the outbreak. Methods: We assessed in 209 (86.4%) HIV-infected cases the presence of hepatitis C and B viruses (HCV, HBV). We identified recent infections using antibody (Ab) avidity testing for HIV and HCV, and HBcIgM Ab for HBV...
December 4, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29204811/impact-of-a-patient-facing-enhanced-genomic-results-report-to-improve-understanding-engagement-and-communication
#4
Janet L Williams, Alanna Kulchak Rahm, Doris T Zallen, Heather Stuckey, Kara Fultz, Audrey L Fan, Michele Bonhag, Lynn Feldman, Michael M Segal, Marc S Williams
"The objective of this study was to" test the effectiveness of an enhanced genomic report on patient-centered outcome domains including communication, engagement and satisfaction. "Study design utilized" a prospective, randomized, mixed-methods desctiptive study of a whole genome sequencing results report, GenomeCOMPASS™, that was accessed by providers through the electronic health record and by patients through the associated patient portal. "The study was set in" an integrated healthcare delivery system in central Pennsylvania...
December 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29202594/diagnosing-and-managing-patients-with-drug-hypersensitivity
#5
Javier Fernandez, Inmaculada Doña
Diagnosing and managing drug hypersensitivity is challenging because there are no clear limits between different types of drug reactions. Distinguishing between type A (predictable) and type B (hypersensitivity) reactions when a drug is introduced on the market is not easy. When many people use a drug, adverse reactions can occur, conditioned by diverse genetic profiles, viral infections or concomitant therapy. Occasionally the only tool clinicians have on which to base the diagnosis is the clinical history...
December 4, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29197426/phenotypic-and-genotypic-monitoring-of-schistosoma-mansoni-in-tanzanian-schoolchildren-five-years-into-a-preventative-chemotherapy-national-control-programme
#6
Charlotte M Gower, Florian Gehre, Sara R Marques, Poppy H L Lamberton, Nicholas J Lwambo, Joanne P Webster
BACKGROUND: Schistosoma mansoni is a parasite of profound medical importance. Current control focusses on mass praziquantel (PZQ) treatment of populations in endemic areas, termed Preventative Chemotherapy (PC). Large-scale PC programmes exert prolonged selection pressures on parasites with the potential for, direct and/or indirect, emergence of drug resistance. Molecular methods can help monitor genetic changes of schistosome populations over time and in response to drug treatment, as well as estimate adult worm burdens through parentage analysis...
December 2, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29197036/cancer-genetic-counseling-communication-with-low-income-chinese-immigrants
#7
Janice Ka Yan Cheng, Claudia Guerra, Rena J Pasick, Dean Schillinger, Judith Luce, Galen Joseph
As genetics and genomics become part of mainstream medicine, these advances have the potential to either reduce or exacerbate health disparities. Relatively, little research has explored the quality of genetic counseling communication experienced by limited English proficiency patients, especially Chinese Americans. We observed and audio recorded genetic counseling appointments (n = 40) of low-income, limited English-proficient Chinese patients (n = 25) and conducted post-visit interviews (n = 17) using stimulated recall to examine patient understanding of the communication...
December 1, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29188632/-advance-in-clinical-application-of-non-invasive-prenatal-screening-using-cell-free-fetal-dna
#8
Jilin Hu, Baosheng Zhu
Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29184627/medical-sequencing-of-de-novo-ectodermal-dysplasia-in-identical-twins-and-evaluation-of-the-potential-eligibility-for-recombinant-eda-therapy
#9
Adriana Modesto, Catherine Ventura, Kathleen Deeley, Deborah Studen-Pavlovich, Alexandre R Vieira
The purpose of this study was to test two 8-year-old identical twins with ectodermal dysplasia (ED) and their unaffected parents for the presence of mutations in the EDA gene with the hypothesis that they might be carrying a de novo mutation in EDA and potentially eligible for recombinant EDA therapy. DNA was extracted using saliva samples obtained from the identical twin girls and both parents. PCR products of Ectodyplasin A (EDA), Ectodysplasin Receptor (EDAR), Ectodysplasin Receptor Associated Death Domain (EDARADD), and Connexin-30 (GJB6) were sequenced by the Sanger method and the results analyzed using a reference sequence...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/29182730/genetic-variation-in-slc8a1-gene-involved-in-blood-pressure-responses-to-acute-salt-loading
#10
Kuo Liu, Zheng Liu, Han Qi, Bin Liu, Jingjing Wu, Yezhou Liu, Jie Zhang, Han Cao, Yuxiang Yan, Yan He, Ling Zhang
BACKGROUND: Salt sensitivity of blood pressure (SSBP) increases the risk of cardiovascular complications, and the heritability of SSBP is about 50% in Chinese population. However, studies identifying genes involved in BP responses to acute sodium loading and diuresis shrinkage are still limited. METHOD: A total of 342 essential hypertensives from Beijing were recruited in our study. A modified Sullivan's acute oral saline load and diuresis shrinkage test was conducted to each individual...
November 22, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/29181379/molecular-autopsy-for-sudden-death-in-the-young-is-data-aggregation-the-key
#11
Manuel Rueda, Jennifer L Wagner, Tierney C Phillips, Sarah E Topol, Evan D Muse, Jonathan R Lucas, Glenn N Wagner, Eric J Topol, Ali Torkamani
The Scripps molecular autopsy study seeks to incorporate genetic testing into the postmortem examination of cases of sudden death in the young (<45 years old). Here, we describe the results from the first 2 years of the study, which consisted of whole exome sequencing (WES) of a cohort of 50 cases predominantly from San Diego County. Apart from the individual description of cases, we analyzed the data at the cohort-level, which brought new perspectives on the genetic causes of sudden death. We investigated the advantages and disadvantages of using WES compared to a gene panel for cardiac disease (usually the first genetic test used by medical examiners)...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29173193/polygenic-prediction-of-the-phenome-across-ancestry-in-emerging-adulthood
#12
Anna R Docherty, Arden Moscati, Danielle Dick, Jeanne E Savage, Jessica E Salvatore, Megan Cooke, Fazil Aliev, Ashlee A Moore, Alexis C Edwards, Brien P Riley, Daniel E Adkins, Roseann Peterson, Bradley T Webb, Silviu A Bacanu, Kenneth S Kendler
BACKGROUND: Identifying genetic relationships between complex traits in emerging adulthood can provide useful etiological insights into risk for psychopathology. College-age individuals are under-represented in genomic analyses thus far, and the majority of work has focused on the clinical disorder or cognitive abilities rather than normal-range behavioral outcomes. METHODS: This study examined a sample of emerging adults 18-22 years of age (N = 5947) to construct an atlas of polygenic risk for 33 traits predicting relevant phenotypic outcomes...
November 27, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/29167740/prenatal-maternal-plasma-dna-screening-for-cystic-fibrosis-a-computer-modelling-study-of-screening-performance
#13
Robert W Old, Jonathan P Bestwick, Nicholas J Wald
Background: Prenatal cystic fibrosis (CF) screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method relies on the quantitative amplification of the CF gene to determine the percentage of DNA fragments in maternal plasma at targeted CF mutation sites that carry a CF mutation. Computer modelling was carried out to estimate the distributions of these percentages in pregnancies with and without a fetus affected with CF...
2017: F1000Research
https://www.readbyqxmd.com/read/29162372/genetics-environment-and-asthma-associated-with-celiac-disease-in-the-extended-family-of-an-affected-child
#14
R Sigala-Robles, S V Aguayo-Patrón, A M Calderón de la Barca
INTRODUCTION: Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion. In extended families of celiac patients that live in close proximity of one another, shared genetic and environmental factors can predispose them to CD. AIM: The aim of this study was to provide evidence about the genetic and environmental factors involved in the development of CD in the extended family of a pediatric patient. METHODS: The medical history, environmental conditions, and participant weight, height, and peripheral blood samples were evaluated...
November 18, 2017: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29157945/food-allergy-a-review-and-update-on-epidemiology-pathogenesis-diagnosis-prevention-and-management
#15
Scott H Sicherer, Hugh A Sampson
This review provides general information to serve as a primer for those embarking on understanding food allergy and also details advances and updates in epidemiology, pathogenesis, diagnosis and treatment that have occurred over the four years since our last comprehensive review. Although firm prevalence data are lacking, there is a strong impression that food allergy has increased, and rates as high as ∼10% have been documented. Genetic, epigenetic and environmental risk factors are being increasingly elucidated, opening the potential for improved prevention and treatment strategies targeted to those at risk...
November 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29149126/pharmacogenomics-principles-and-relevance-to-oncology-nursing%C3%A2
#16
Crystal H Dodson
BACKGROUND: Pharmacogenomics is the fastest growing field in precision medicine. Based on current use, oncology encompasses the largest share of the precision medicine market, necessitating that oncology nurses understand the principles of pharmacogenomics and how it affects clinical practice.
. OBJECTIVES: This article will define precision medicine and pharmacogenomics and will provide examples of pharmacogenomic tests, including those associated with tumor markers, and nursing implications...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29146387/dilemmas-in-genetic-counseling-for-low-penetrance-neuro-susceptibility-loci-detected-on-prenatal-chromosomal-microarray-analysis
#17
Dana Brabbing-Goldstein, Adi Reches, Ran Svirsky, Anat Bar-Shira, Yuval Yaron
BACKGROUND: Chromosomal microarray analysis is standard of care in fetuses with malformations, detecting clinically significant copy number variants in 5-7% of cases over conventional karyotyping. However, it also detects variants of uncertain significance in 1.6% - 4.2% of the cases, some of which are low-penetrance neuro-susceptibility loci. The interpretation of these variants in pregnancy is particularly challenging, because the significance is often unclear and the clinical implications may be difficult to predict...
November 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#18
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29131714/understanding-variations-in-secondary-findings-reporting-practices-across-u-s-genome-sequencing-laboratories
#19
Sara Ackerman, Barbara Koenig
BACKGROUND: Increasingly used for clinical purposes, genome and exome sequencing can generate clinically relevant information that is not directly related to the reason for testing (incidental or secondary findings). Debates about the ethical implications of secondary findings were sparked by the American College of Medical Genetics (ACMG)'s 2013 policy statement, which recommended that laboratories report pathogenic alterations in 56 genes. Although wide variation in laboratories' secondary findings policies has been reported, little is known about its causes...
November 13, 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29130143/incorporating-social-media-into-your-support-tool-box-points-to-consider-from-genetics-based-communities
#20
Heather Mae Rocha, Juliann M Savatt, Erin Rooney Riggs, Jennifer K Wagner, W Andrew Faucett, Christa Lese Martin
Patients with newly-described or rare genetic findings are turning to social media to find and connect with others. Blogs, Facebook groups, and Twitter have all been reported as tools for patients to connect with one another. However, the preferences for social media use and privacy among patients, their families, and these communities have not been well characterized. To explore preferences about privacy and membership guidelines, an online survey was administered to two web-based patient registries, Simons Variation in Individuals Project ( www...
November 13, 2017: Journal of Genetic Counseling
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