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Genetic tests for medication use

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https://www.readbyqxmd.com/read/28449382/current-use-of-chromosomal-microarray-by-australian-paediatricians-and-implications-for-the-implementation-of-next-generation-sequencing
#1
Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin
AIM: Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA. METHODS: Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings...
April 27, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28445878/differential-allelic-expression-of-htr1b-in-suicide-victims-genetic-and-epigenetic-effect-of-the-cis-acting-variants
#2
Ali Bani-Fatemi, Aaron Howe, Clement Zai, James L Kennedy, John Vincent, John Strauss, Albert Wong, Vincenzo De Luca
OBJECTIVES: In the present study, we tested the allelic imbalance of the C861G single nucleotide polymorphism (SNP) of HTR1B in the frontal cortex of suicide victims. METHODS: The study was conducted using 3 sets of samples. First, C861G allele-specific mRNA levels in the frontal cortex were compared between suicide (n = 13) and nonsuicide controls (n = 13) from the Stanley Medical Research postmortem brain collection. Second, we tested common variants in the HTR1B promoter for linkage disequilibrium (LD) with the C861G variant in an unrelated sample of suicide attempters (SA; n = 38) and non-SA (NSA; n = 42)...
April 27, 2017: Neuropsychobiology
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#3
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28439751/development-of-a-streamlined-work-flow-for-handling-patients-genetic-testing-insurance-authorizations
#4
Wendy R Uhlmann, Katie Schwalm, Victoria M Raymond
Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data...
April 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28438126/prevalence-of-and-factors-associated-with-myopia-in-inner-mongolia-medical-students-in-china-a-cross-sectional-study
#5
Lan Wang, Maolin Du, He Yi, Shengyun Duan, Wenfang Guo, Peng Qin, Zhihui Hao, Juan Sun
BACKGROUND: To further explore characteristics of myopia and changes in factors associated with myopia among students at Inner Mongolia Medical University. METHODS: Two cross-sectional censuses were conducted in 2011 and 2013. Participants were medical students residing on campus in 2011 and 2013. Logistic regression analysis was performed to ascertain associations with basic information, genetic factors, environmental factors. The χ(2) test was used to test for differences in prevalence between 2011 and 2013...
April 24, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28429832/a-genetic-risk-score-that-includes-common-type-2-diabetes-risk-variants-is-associated-with-gestational-diabetes
#6
Vivian K Kawai, Rebecca T Levinson, Abiodun Adefurin, Daniel Kurnik, Sarah P Collier, Douglas Conway, C Michael Stein
OBJECTIVE: Gestational diabetes (GDM) is characterized by maternal glucose intolerance that manifests during pregnancy. Because GDM resembles type 2 diabetes (T2DM), shared genetic predisposition is likely but has not been established. We tested the hypothesis that a genetic risk score (GRS) that included variants known to be associated with T2DM is associated with GDM. STUDY DESIGN: We conducted a case-control study using the Vanderbilt Medical Center biobank (BioVU), and calculated a simple-count GRS using 34 variants previously associated with T2DM or fasting glucose in the general population, or with GDM or glucose intolerance in pregnancy...
April 21, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28429460/automated-t-wave-analysis-can-differentiate-acquired-qt-prolongation-from-congenital-long-qt-syndrome
#7
Alan Sugrue, Peter A Noseworthy, Vaclav Kremen, J Martijn Bos, Bo Qiang, Ram K Rohatgi, Yehu Sapir, Zachi I Attia, Peter Brady, Pedro J Caraballo, Samuel J Asirvatham, Paul A Friedman, Michael J Ackerman
BACKGROUND: Prolongation of the QT on the surface electrocardiogram can be due to either genetic or acquired causes. Distinguishing congenital long QT syndrome (LQTS) from acquired QT prolongation has important prognostic and management implications. We aimed to investigate if quantitative T-wave analysis could provide a tool for the physician to differentiate between congenital and acquired QT prolongation. METHODS: Patients were identified through an institution-wide computer-based QT screening system which alerts the physician if the QTc ≥ 500 ms...
April 21, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/28419427/how-i-manage-children-with-neutropenia
#8
REVIEW
David C Dale
Neutropenia, usually defined as a blood neutrophil count <1·5 × 10(9) /l, is a common medical problem for children and adults. There are many causes for neutropenia, and at each stage in life the clinical pattern of causes and consequences differs significantly. I recommend utilizing the age of the child and clinical observations for the preliminary diagnosis and primary management. In premature infants, neutropenia is quite common and contributes to the risk of sepsis with necrotizing enterocolitis...
April 17, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28417200/hpv-related-carcinomas-of-the-head-and-neck-morphologic-features-variants-and-practical-considerations-for-the-surgical-pathologist
#9
REVIEW
Todd M Stevens, Justin A Bishop
Human papillomavirus (HPV)-related oropharyngeal squamous cell carcinoma is a distinct tumor entity with clinical, epidemiologic, genetic, histologic, prognostic, and treatment differences from smoking- and alcohol-related head and neck squamous cell carcinoma. This is now well known by the pathology and medical community. What is not yet widely known is that several emerging variants of HPV-related carcinoma of the head and neck exist apart from the prototypical non-keratinizing morphology. Further, there is currently considerable variation in methodologies used and clinical scenarios in which to test for HPV-related head and neck squamous cell carcinoma, and no standard approach has emerged...
April 17, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28413930/relationship-of-genetic-variants-with-procedural-pain-anxiety-and-distress-in-children
#10
Anne L Ersig, Debra L Schutte, Jennifer Standley, Elizabeth Leslie, Bridget Zimmerman, Charmaine Kleiber, Kirsten Hanrahan, Jeffrey C Murray, Ann Marie McCarthy
OBJECTIVE: This study used a candidate gene approach to examine genomic variation associated with pain, anxiety, and distress in children undergoing a medical procedure. STUDY DESIGN: Children aged 4-10 years having an IV catheter insertion were recruited from three Midwestern children's hospitals. Self-report measures of pain, anxiety, and distress were obtained as well as an observed measure of distress. Samples were collected from children and biological parents for analysis of genomic variation...
May 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28410062/role-of-imaging-in-the-evaluation-of-male-infertility
#11
Pardeep K Mittal, Brent Little, Peter A Harri, Frank H Miller, Lauren F Alexander, Bobby Kalb, Juan C Camacho, Viraj Master, Matthew Hartman, Courtney C Moreno
Infertility is defined herein as the inability to achieve pregnancy after frequently engaging in unprotected sexual intercourse for 1 year. Among infertile couples, the cause of infertility involves the male partner in approximately 50% of cases. Male infertility is usually caused by conditions affecting sperm production, sperm function, or both, or blockages that prevent the delivery of sperm. Chronic health problems, injuries, lifestyle choices, anatomic problems, hormonal imbalances, and genetic defects can have a role in male infertility...
April 14, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28409564/predictors-of-naltrexone-response-in-a-randomized-trial-reward-related-brain-activation-oprm1-genotype-and-smoking-status
#12
Joseph P Schacht, Patrick K Randall, Patricia K Latham, Konstantin E Voronin, Sarah W Book, Hugh Myrick, Raymond F Anton
Naltrexone reduces drinking among individuals with alcohol use disorders (AUDs), but is not effective for everyone. Variability in its effects on reward-related brain activation, genetic variation, and/or cigarette smoking may account for this mixed response profile. This randomized clinical trial tested naltrexone's effects on drinking and alcohol cue-elicited brain activation, evaluated whether OPRM1 A118G genotype or smoking moderated these effects, and explored whether medication effects on cue-elicited activation predicted subsequent drinking...
April 14, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28409480/genetic-testing-for-opioid-pain-management-a-primer
#13
Deepti Agarwal, Mercy A Udoji, Andrea Trescot
Patients see their primary care physicians (PCPs) for a variety of medical conditions, chronic pain being one of the most common. An increased use of prescription medications (especially opioids) has led to an increase in adverse drug reactions and has heightened our awareness of the variability in response to medications. Opioids and other pain adjuvants are widely used, and drug-drug interactions involving these analgesics can be problematic and potentially lethal. Pharmacogenetics has improved our understanding of drug efficacy and response, opened doors to individual tailoring of medical management, and created a series of ethical and economic considerations...
April 13, 2017: Pain and Therapy
https://www.readbyqxmd.com/read/28408614/clinical-variant-classification-a-comparison-of-public-databases-and-a-commercial-testing-laboratory
#14
William Gradishar, KariAnne Johnson, Krystal Brown, Erin Mundt, Susan Manley
BACKGROUND: There is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, the well-documented limitations of these databases call into question how often clinicians will encounter discordant variant classifications that may introduce uncertainty into patient management. Here, we evaluate discordance in BRCA1 and BRCA2 variant classifications between a single commercial testing laboratory and a public database commonly consulted in clinical practice...
April 13, 2017: Oncologist
https://www.readbyqxmd.com/read/28408121/effectiveness-of-live-attenuated-influenza-vaccine-and-inactivated-influenza-vaccine-in-children-during-the-2014-2015-season
#15
Huong Q McLean, Herve Caspard, Marie R Griffin, Katherine A Poehling, Manjusha Gaglani, Edward A Belongia, H Keipp Talbot, Timothy R Peters, Kempapura Murthy, Christopher S Ambrose
BACKGROUND: A clinical study found that live attenuated influenza vaccine (LAIV) was superior to inactivated influenza vaccine (IIV) against drifted A(H3N2) viruses in children. During the 2014-2015 influenza season, widespread circulation of antigenically and genetically drifted A(H3N2) viruses provided an opportunity to evaluate subtype-specific vaccine effectiveness (VE) of quadrivalent LAIV (LAIV4) and IIV in children. METHODS: Children (2-17years) with febrile acute respiratory illness <5days' duration were enrolled at 4 outpatient sites in the United States during the 2014-2015 influenza season...
May 9, 2017: Vaccine
https://www.readbyqxmd.com/read/28399813/the-netherlands-chlamydia-cohort-study-neccst-protocol-to-assess-the-risk-of-late-complications-following-chlamydia-trachomatis-infection-in-women
#16
B M Hoenderboom, A A M van Oeffelen, B H B van Benthem, J E A M van Bergen, N H T M Dukers-Muijrers, H M Götz, C J P A Hoebe, A A Hogewoning, F R M van der Klis, D van Baarle, J A Land, M A B van der Sande, M G van Veen, F de Vries, S A Morré, I V F van den Broek
BACKGROUND: Chlamydia trachomatis (CT), the most common bacterial sexually transmitted infection (STI) among young women, can result in serious sequelae. Although the course of infection is often asymptomatic, CT may cause pelvic inflammatory disease (PID), leading to severe complications, such as prolonged time to pregnancy, ectopic pregnancy, and tubal factor subfertility. The risk of and risk factors for complications following CT-infection have not been assessed in a long-term prospective cohort study, the preferred design to define infections and complications adequately...
April 11, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28391405/postmortem-genetic-testing-should-be-recommended-in-sudden-cardiac-death-cases-due-to-thoracic-aortic-dissection
#17
Marina Gago-Díaz, Eva Ramos-Luis, Silvia Zoppis, Esther Zorio, Pilar Molina, Aitana Braza-Boïls, Juan Giner, Beatriz Sobrino, Jorge Amigo, Alejandro Blanco-Verea, Ángel Carracedo, María Brion
BACKGROUND: Acute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases...
April 8, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28385363/-when-information-is-not-enough-a-model-for-understanding-brca-positive-previvors-information-needs-regarding-hereditary-breast-and-ovarian-cancer-risk
#18
Marleah Dean, Courtney L Scherr, Meredith Clements, Rachel Koruo, Jennifer Martinez, Amy Ross
OBJECTIVE: To investigate BRCA-positive, unaffected patients' - referred to as previvors - information needs after testing positive for a deleterious BRCA genetic mutation. METHODS: 25 qualitative interviews were conducted with previvors. Data were analyzed using the constant comparison method of grounded theory. RESULTS: Analysis revealed a theoretical model of previvors' information needs related to the stage of their health journey. Specifically, a four-stage model was developed based on the data: (1) pre-testing information needs, (2) post-testing information needs, (3) pre-management information needs, and (4) post-management information needs...
March 10, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28384392/missed-opportunities-unidentified-genetic-risk-factors-in-prenatal-care
#19
Trissa McClatchey, Erica Lay, Melissa Strassberg, Ignatia B Van den Veyver
OBJECTIVE: Prenatal and preconception care guidelines recommend obtaining family history to screen for reproductive genetic risk. The effectiveness of this screening and subsequent referral for genetic counseling is not well established. This study describes how often pregnant women with reproductive genetic risks were not referred for prenatal genetic counseling and the indications frequently missed. METHOD: We retrospectively reviewed genetic consultation medical records for first-trimester screen pretest counseling...
April 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28377322/caution-in-interpretation-of-disease-causality-for-heterozygous-loss-of-function-variants-in-the-myh8-gene-associated-with-autosomal-dominant-disorder
#20
Zunyan Dai, Zachary Whitt, Lindsey C Mighion, Alessandro Pontoglio, Lora J H Bean, Roberto Colombo, Madhuri Hegde
To date, the NM_002472.2(MYH8):c.2021G>A (p.Arg674Gln) missense variant in the MYH8 gene is the only known genetic change in individuals with autosomal dominant trismus-pseudocamptodactyly syndrome with unknown molecular mechanism. Next-generation sequencing (NGS), including targeted gene panels and whole-exome sequencing, is routinely performed in many clinical diagnostic laboratories as standard-of-care testing aimed at identifying disease-causing genomic variants. Whole-exome sequencing has revealed loss-of-function variants in the MYH8 gene...
April 1, 2017: European Journal of Medical Genetics
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