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Genetic tests for medication use

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https://www.readbyqxmd.com/read/28819253/majority-of-human-traits-do-not-show-evidence-for-sex-specific-genetic-and-environmental-effects
#1
Sven Stringer, Tinca Polderman, Danielle Posthuma
Sex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require sex-stratified analysis, and in clinical practice sex-specific treatments would be warranted. Here, we present a study of 2,335,920 twin pairs, in which we tested sex differences in genetic and environmental contributions to variation in 2,608 reported human traits, clustered in 50 trait categories...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818315/screening-for-familial-cancer-risk-focus-on-breast-cancer
#2
REVIEW
Christine Rousset-Jablonski, Anne Gompel
A breast or an ovarian cancer occurring at a young age and/or in a family where other cases preexist suggests that those patients should be candidates for screening for mutations. Despite decades of medical research, less than 30% of cases with a suggestive personal and/or family history of hereditary breast cancer have an identified causative gene mutation. The vast majority of these cases are due to a mutation in one of the highly penetrant breast cancer genes (BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11) and various guidelines direct the management of these patients...
August 7, 2017: Maturitas
https://www.readbyqxmd.com/read/28818065/case-reports-of-two-pedigrees-with-recessive-arrhythmogenic-right-ventricular-cardiomyopathy-associated-with-homozygous-thr335ala-variant-in-dsg2
#3
Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W Koskenvuo
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. CASE PRESENTATION: We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c...
August 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28814541/assessing-the-fragile-x-syndrome-newborn-screening-landscape
#4
Catharine Riley, Anne Wheeler
BACKGROUND: Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification. METHODS: A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28809644/-endoprosthesis-infections-guidelines-for-antibiotic-therapy-common-guidelines-of-the-czech-society-for-orthopaedics-and-traumatology-and-the-society-for-infectious-diseases-of-the-czech-medical-association-of-j-e-purkyn%C3%A4
#5
D Musil, M Balejová, M Horníková, A Chrdle, N Mallátová, O Nyč, V Chmelík, J Gallo, D Jahoda, J Stehlík
PURPOSE OF THE STUDY This study aims to articulate regional guidelines for curative and suppressive antibiotic therapy of total joint replacement infections. MATERIAL AND METHODS When developing the standard, used as source materials were the published foreign guidelines for antibiotic therapy of prosthetic joint infections, the analysis of resistance of bacterial strains conducted in the Hospital in České Budějovice, a.s. and the assessment of strain resistance for the Czech Republic published by the European Antimicrobial Resistance Surveillance Network (EARS-Net)...
2017: Acta Chirurgiae Orthopaedicae et Traumatologiae Cechoslovaca
https://www.readbyqxmd.com/read/28809467/multidimensional-control-of-cas9-by-evolved-rna-polymerase-based-biosensors
#6
Jinyue Pu, Kaitlin Kentala, Bryan C Dickinson
Systems to control Cas9 with spatial and temporal precision offer opportunities to decrease side effects, protect sensitive tissues, and create gene therapies that are only activated at defined times and places. Here, we present the design of new Cas9 controllers based on RNA polymerase (RNAP)-based biosensors that produce gRNAs, thereby regulating target knockout. After development and validation of a new abscisic acid-inducible biosensor to control Cas9, we lowered the background of the system using continuous evolution...
August 15, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28808384/molecular-authentication-of-the-traditional-medicinal-plant-lakshman-booti-smithia-conferta-sm-and-its-adulterants-through-dna-barcoding
#7
Suraj D Umdale, Parthraj R Kshirsagar, Manoj M Lekhak, Nikhil B Gaikwad
BACKGROUND: Smithia conferta Sm. is an annual herb widely used in Indian traditional medical practice and commonly known as "Lakshman booti" in Sanskrit. Morphological resemblance among the species of genus Smithia Aiton. leads to inaccurate identification and adulteration. This causes inconsistent therapeutic effects and also affects the quality of herbal medicine. AIM: This study aimed to generate potential barcode for authentication of S. conferta and its adulterants through DNA barcoding technique...
July 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/28807864/reducing-diagnostic-turnaround-times-of-exome-sequencing-for-families-requiring-timely-diagnoses
#8
Aurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, Ange-Line Bruel, Alice Masurel-Paulet, Nolwenn Jean, Sophie Nambot, Marjorie Willems, Laetitia Lambert, Salima El Chehadeh-Djebbar, Elise Schaefer, Aurélia Jaquette, Judith St-Onge, Charlotte Poe, Thibaud Jouan, Martin Chevarin, Patrick Callier, Anne-Laure Mosca-Boidron, Nicole Laurent, Mathilde Lefebvre, Frédéric Huet, Nada Houcinat, Sébastien Moutton, Christophe Philippe, Frédéric Tran-Mau-Them, Antonio Vitobello, Paul Kuentz, Yannis Duffourd, Jean-Baptiste Rivière, Julien Thevenon, Laurence Faivre
BACKGROUND AND OBJECTIVE: Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28806639/a-developmental-etiological-model-for-drug-abuse-in-men
#9
Kenneth S Kendler, Henrik Ohlsson, Alexis C Edwards, Jan Sundquist, Kristina Sundquist
BACKGROUND: We attempt to develop a relatively comprehensive structural model of risk factors for drug abuse (DA) in Swedish men that illustrates developmental and mediational processes. METHODS: We examined 20 risk factors for DA in 48,369 men undergoing conscription examinations in 1969-70 followed until 2011 when 2.34% (n=1134) of them had DA ascertained in medical, criminal and pharmacy registries. Risk factors were organized into four developmental tiers reflecting i) birth, ii) childhood/early adolescence, iii) late adolescence, and iv) young adulthood...
July 29, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28804700/abridged-version-of-the-awmf-guideline-for-the-medical-clinical-diagnostics-of-indoor-mould-exposure-s2k-guideline-of-the-german-society-of-hygiene-environmental-medicine-and-preventive-medicine-ghup-in-collaboration-with-the-german-association-of-allergists
#10
Gerhard A Wiesmüller, Birger Heinzow, Ute Aurbach, Karl-Christian Bergmann, Albrecht Bufe, Walter Buzina, Oliver A Cornely, Steffen Engelhart, Guido Fischer, Thomas Gabrio, Werner Heinz, Caroline E W Herr, Jörg Kleine-Tebbe, Ludger Klimek, Martin Köberle, Herbert Lichtnecker, Thomas Lob-Corzilius, Rolf Merget, Norbert Mülleneisen, Dennis Nowak, Uta Rabe, Monika Raulf, Hans Peter Seidl, Jens-Oliver Steiß, Regine Szewszyk, Peter Thomas, Kerttu Valtanen, Julia Hurraß
This article is an abridged version of the AWMF mould guideline "Medical clinical diagnostics of indoor mould exposure" presented in April 2016 by the German Society of Hygiene, Environmental Medicine and Preventive Medicine (Gesellschaft für Hygiene, Umweltmedizin und Präventivmedizin, GHUP), in collaboration with the above-mentioned scientific medical societies, German and Austrian societies, medical associations and experts. Indoor mould growth is a potential health risk, even if a quantitative and/or causal relationship between the occurrence of individual mould species and health problems has yet to be established...
2017: Allergo Journal International
https://www.readbyqxmd.com/read/28795095/quantitative-exploration-of-factors-influencing-psychotic-disorder-ailments-in-nigeria
#11
Adebowale O Adejumo, Nehemiah A Ikoba, Esivue A Suleiman, Hilary I Okagbue, Pelumi E Oguntunde, Oluwole A Odetunmibi, Obalowu Job
In this data article, records on demographic data, family problem issues, as well as results of medical tests from five major classes of psychotic disorder namely: bipolar; vascular dementia, minimal brain dysfunction; insomnia; and schizophrenia, were collected on 500 psychotic patients carefully selected from the pool of medical records of Yaba Psychiatric Hospital, Lagos, Nigeria, for the period of 5 years, between January 2010 and December 2014, were examined. X-squared Statistic was used to examine each of psychotic disorders to identify demographic (age, gender, religion, marital status, and occupation) and family issues (loss of parent, history of such ailment in the family (family status), divorce, head injury, and heredity of such ailment (genetic) factors that influence them...
October 2017: Data in Brief
https://www.readbyqxmd.com/read/28794693/human-genetics-in-troubled-times-and-places
#12
REVIEW
Peter S Harper
The development of human genetics world-wide during the twentieth century, especially across Europe, has occurred against a background of repeated catastrophes, including two world wars and the ideological problems and repression posed by Nazism and Communism. The published scientific literature gives few hints of these problems and there is a danger that they will be forgotten. The First World War was largely indiscriminate in its carnage, but World War 2 and the preceding years of fascism were associated with widespread migration, especially of Jewish workers expelled from Germany, and of their children, a number of whom would become major contributors to the post-war generation of human and medical geneticists in Britain and America...
2018: Hereditas
https://www.readbyqxmd.com/read/28794501/population-based-biobank-participants-preferences-for-receiving-genetic-test-results
#13
Kayono Yamamoto, Tsuyoshi Hachiya, Akimune Fukushima, Naoki Nakaya, Akira Okayama, Kozo Tanno, Fumie Aizawa, Tomoharu Tokutomi, Atsushi Hozawa, Atsushi Shimizu
There are ongoing debates on issues relating to returning individual research results (IRRs) and incidental findings (IFs) generated by genetic research in population-based biobanks. To understand how to appropriately return genetic results from biobank studies, we surveyed preferences for returning IRRs and IFs among participants of the Tohoku Medical Megabank Project (TMM). We mailed a questionnaire to individuals enrolled in the TMM cohort study (Group 1; n=1031) and a group of Tohoku region residents (Group 2; n=2314)...
August 10, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28793914/performance-of-gout-definitions-for-genetic-epidemiological-studies-analysis-of-uk-biobank
#14
Murray Cadzow, Tony R Merriman, Nicola Dalbeth
BACKGROUND: Many different combinations of available data have been used to identify gout cases in large genetic studies. The aim of this study was to determine the performance of case definitions of gout using the limited items available in multipurpose cohorts for population-based genetic studies. METHODS: This research was conducted using the UK Biobank Resource. Data, including genome-wide genotypes, were available for 105,421 European participants aged 40-69 years without kidney disease...
August 9, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28792153/clinical-characteristics-of-spinal-muscular-atrophy-in-korea-confirmed-by-genetic-analysis
#15
Heewon Hwang, Jung Hwan Lee, Young Chul Choi
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28791541/cancer-counseling-of-low-income-limited-english-proficient-latina-women-using-medical-interpreters-implications-for-shared-decision-making
#16
Daniella Kamara, Jon Weil, Janey Youngblom, Claudia Guerra, Galen Joseph
In cancer genetic counseling (CGC), communication across language and culture challenges the model of practice based on shared decision-making. To date, little research has examined the decision-making process of low-income, limited English proficiency (LEP) patients in CGC. This study identified communication patterns in CGC sessions with this population and assessed how these patterns facilitate or inhibit the decision-making process during the sessions. We analyzed 24 audio recordings of CGC sessions conducted in Spanish via telephone interpreters at two public hospitals...
August 9, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28790208/pathogenicity-locus-core-genome-and-accessory-gene-contributions-to-clostridium-difficile-virulence
#17
Brittany B Lewis, Rebecca A Carter, Lilan Ling, Ingrid Leiner, Ying Taur, Mini Kamboj, Erik R Dubberke, Joao Xavier, Eric G Pamer
Clostridium difficile is a spore-forming anaerobic bacterium that causes colitis in patients with disrupted colonic microbiota. While some individuals are asymptomatic C. difficile carriers, symptomatic disease ranges from mild diarrhea to potentially lethal toxic megacolon. The wide disease spectrum has been attributed to the infected host's age, underlying diseases, immune status, and microbiome composition. However, strain-specific differences in C. difficile virulence have also been implicated in determining colitis severity...
August 8, 2017: MBio
https://www.readbyqxmd.com/read/28768476/pan-genome-and-phylogeny-of-bacillus-cereus-sensu-lato
#18
Adam L Bazinet
BACKGROUND: Bacillus cereus sensu lato (s. l.) is an ecologically diverse bacterial group of medical and agricultural significance. In this study, I use publicly available genomes and novel bioinformatic workflows to characterize the B. cereus s. l. pan-genome and perform the largest phylogenetic and population genetic analyses of this group to date in terms of the number of genes and taxa included. With these fundamental data in hand, I identify genes associated with particular phenotypic traits (i...
August 2, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28761069/evidence-for-treatment-by-biomarker-interaction-for-fda-approved-oncology-drugs-with-required-pharmacogenomic-biomarker-testing
#19
Alexandre Vivot, Isabelle Boutron, Geoffroy Béraud-Chaulet, Jean-David Zeitoun, Philippe Ravaud, Raphaël Porcher
For oncology drugs that were approved by the US Food and Drug Administration (FDA) and required pharmacogenomic biomarker testing, we describe 1) the use of enrichment (biomarker-positive patients) and a randomized controlled design by pre-approval trials and 2) the treatment-by-biomarker interaction. From the 137 drugs included in the FDA table, we selected the 22 oncology drugs with required genetic testing in their labels. These drugs corresponded to 35 approvals supported by 80 clinical studies included in the FDA medical officer reviews of efficacy...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28758104/liquid-biopsies-in-lung-cancer-time-to-implement-research-technologies-in-routine-care
#20
REVIEW
Linda Köhn, Mikael Johansson, Kjell Grankvist, Jonas Nilsson
Lung cancer is the leading cause of cancer mortality. A substantial progress in the understanding of lung cancer biology has resulted in several promising targeted therapies for advanced disease. Druggable targets today include point mutations such as EGFR, BRAF and re-arrangements in genes such as ALK and ROS1. Liquid biopsies collecting e.g., circulating tumor DNA (ctDNA) reflects overall tumor information and is not biased by analyzing of only a small fraction of the tumor and is always accessible in contrast to the lung cancer tissue...
July 2017: Annals of Translational Medicine
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