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Genetic tests for medication use

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https://www.readbyqxmd.com/read/28727628/replication-confirms-the-association-of-loci-in-foxe1-pde8b-capzb-and-pde10a-with-thyroid-traits-a-genetics-of-diabetes-audit-and-research-tayside-study
#1
Enrique Soto-Pedre, Moneeza K Siddiqui, Alex S Doney, Colin N A Palmer, Ewan R Pearson, Graham P Leese
OBJECTIVE: Replication of associations in genome-wide association studies is desirable to ensure that such signals are potentially clinically meaningful. This study aimed to replicate associations of selected single-nucleotide polymorphisms (SNPs) with hypothyroidism and serum thyroid-stimulating hormone (TSH) using electronic medical records (EMRs). PATIENTS AND METHODS: A cross-sectional study was carried out among patients of European Caucasian ethnicity from the Genetics of Diabetes Audit and Research Tayside recruited in Tayside (Scotland, UK)...
July 19, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28726804/diagnostic-cytogenetic-testing-following-positive-noninvasive-prenatal-screening-results-a-clinical-laboratory-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#2
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Sarah T South, James H Tepperberg, Jeanne M Meck
Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily as an educational tool for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these practice resources is voluntary and does not necessarily assure a successful medical outcome. This Clinical Laboratory Practice Resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28724792/pediatric-and-adult-dilated-cardiomyopathy-represent-distinct-pathological-entities
#3
Meghna D Patel, Jayaram Mohan, Caralin Schneider, Geetika Bajpai, Enkhsaikhan Purevjav, Charles E Canter, Jeffrey Towbin, Andrea Bredemeyer, Kory J Lavine
Pediatric dilated cardiomyopathy (DCM) is the most common indication for heart transplantation in children. Despite similar genetic etiologies, medications routinely used in adult heart failure patients do not improve outcomes in the pediatric population. The mechanistic basis for these observations is unknown. We hypothesized that pediatric and adult DCM comprise distinct pathological entities, in that children do not undergo adverse remodeling, the target of adult heart failure therapies. To test this hypothesis, we examined LV specimens obtained from pediatric and adult donor controls and DCM patients...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28717669/pitfalls-in-genetic-testing-a-case-of-a-snp-in-primer-annealing-region-leading-to-allele-dropout-in-brca1
#4
Felipe Carneiro Silva, Giovana Tardin Torrezan, Rafael Canfield Brianese, Raquel Stabellini, Dirce Maria Carraro
BACKGROUND: Hereditary breast and ovarian cancer is characterized by mutations in BRCA1 or BRCA2 genes and PCR-based screening techniques, such as capillary sequencing and next-generation sequencing (NGS), are considered gold standard methods for detection of pathogenic mutations in these genes. Single-nucleotide polymorphisms (SNPs) constitute a vast source of variation in the human genome and represent a risk for misdiagnosis in genetic testing, since the presence of a SNP in primer-annealing sites may cause false negative results due to allele dropout...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716792/influence-of-family-history-on-the-willingness-of-outpatients-to-undergo-genetic-testing-for-salt-sensitive-hypertension-a-cross-sectional-study
#5
Taro Takeshima, Masanobu Okayama, Ryusuke Ae, Masanori Harada, Eiji Kajii
OBJECTIVES: It is unclear whether family medical history influences the willingness to undergo genetic testing. This study aimed to determine how family history affected the willingness to undergo genetic testing for salt-sensitive hypertension in patients with and without hypertension. DESIGN: Cross-sectional study using a self-administered questionnaire. SETTING: Six primary care clinics and hospitals in Japan. PARTICIPANTS: Consecutive 1705 outpatients aged >20 years, 578 of whom had hypertension...
July 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28716744/a-heterozygous-mutation-in-got1-is-associated-with-familial-macro-aspartate-aminotransferase
#6
Maria Kulecka, Aldona Wierzbicka, Agnieszka Paziewska, Michal Mikula, Andrzej Habior, Wojciech Janczyk, Michalina Dabrowska, Jakub Karczmarski, Michal Lazniewski, Krzysztof Ginalski, Anna Czlonkowska, Piotr Socha, Jerzy Ostrowski
BACKGROUND & AIMS: Macro-aspartate aminotransferase (macro-AST) manifests as persistent elevation of AST levels, due to association of the protein with immunoglobulins in the circulation macro-AST is a rare, benign condition without a previously confirmed genetic basis. METHODS: Whole exome sequencing (WES)-based screening was performed on 32 participants with suspected familial macro-AST, while variants validation was performed on an extended cohort of 90 probands and 1644 healthy controls using Taqman genotyping...
July 14, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28710364/gene-wide-association-study-reveals-rnf122-ubiquitin-ligase-as-a-novel-susceptibility-gene-for-attention-deficit-hyperactivity-disorder
#7
Iris Garcia-Martínez, Cristina Sánchez-Mora, María Soler Artigas, Paula Rovira, Mireia Pagerols, Montse Corrales, Eva Calvo-Sánchez, Vanesa Richarte, Mariona Bustamante, Jordi Sunyer, Bru Cormand, Miquel Casas, Josep Antoni Ramos-Quiroga, Marta Ribasés
Attention Deficit Hyperactivity Disorder (ADHD) is a common childhood-onset neurodevelopmental condition characterized by pervasive impairment of attention, hyperactivity, and/or impulsivity that can persist into adulthood. The aetiology of ADHD is complex and multifactorial and, despite the wealth of evidence for its high heritability, genetic studies have provided modest evidence for the involvement of specific genes and have failed to identify consistent and replicable results. Due to the lack of robust findings, we performed gene-wide and pathway enrichment analyses using pre-existing GWAS data from 607 persistent ADHD subjects and 584 controls, produced by our group...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28704896/long-term-speech-perception-outcomes-of-cochlear-implantation-in-gap-junction-protein-beta-2-related-hearing-loss
#8
Sung Hee Kim, Rajendra Nepali, Myung Hoon Yoo, Kwang-Sun Lee, Jong Woo Chung
BACKGROUND AND OBJECTIVES: The mutation of the gap junction protein beta 2 (GJB2) gene is the predominant cause of autosomal recessive non-syndromic hearing loss. The purpose of this study was to evaluate the speech perception outcome after cochlear implantation according to the presence of a GJB2 mutation. SUBJECTS AND METHODS: During the period from March 2004 to February 2005, 38 patients underwent cochlear implantation at Asan Medical Center. Genetic factors and speech perception were evaluated in all subjects, and the patients were grouped according to the presence of a GJB2 mutation...
July 2017: Journal of Audiology & Otology
https://www.readbyqxmd.com/read/28697118/finding-middle-ground-in-constructing-a-clinically-useful-expanded-carrier-screening-panel
#9
Blair Stevens, Nevena Krstic, Malorie Jones, Lauren Murphy, Jennifer Hoskovec
Expanded carrier screening for autosomal-recessive conditions effectively identifies more carrier couples than traditional guideline-based carrier screening. However, clinically available expanded carrier screening panels include numerous conditions, some of which have questionable clinical utility as a result of very low carrier frequency, low or unknown testing sensitivity, and mild or incompletely penetrant phenotypes. Using the 2013 American College of Medical Genetics and Genomics Position Statement on Prenatal and Preconception Expanded Carrier Screening and the 2017 American College of Obstetricians and Gynecologists' Committee Opinion on Carrier Screening in the Age of Genomic Medicine as guidance, we propose specific criteria for the development of expanded carrier screening panels that will maximize clinical utility and minimize patient stress, unnecessary cost of follow-up testing, and clinician time spent facilitating and performing follow-up counseling and testing...
July 7, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28691468/bacterial-colonization-of-the-implant-abutment-interface-of-conical-connection-with-an-internal-octagon-an-in-vitro-study-using-real-time-pcr
#10
A Baj, G A Beltramini, A Bolzoni, F Cura, A Palmieri, A Scarano, L Ottria, A B Giannì
Bacterial leakage at the implant-abutment connection of a two-piece implant system is considered the main cause of peri-implantitis. Prevention of bacterial leakage at the implant-abutment connection is mandatory for reducing inflammation process around implant neck and achieving bone stability. Micro-cavities at implant-abutment connection level can favour bacterial leakage, even in modern two-piece implant systems. The conical connection with an internal octagon (CCIO) is considered to be more stable mechanically and allows a more tight link between implant and abutment...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28689706/the-innovative-canadian-pharmacogenomic-screening-initiative-in-community-pharmacy-icanpic-study
#11
John Papastergiou, Peter Tolios, Wilson Li, Jane Li
OBJECTIVES: The safety and efficacy of medications can vary significantly between patients as a result of genetic variability. As genomic screening technologies become more widely available, pharmacists are ideally suited to use such tools to optimize medication therapy management. The objective of this study was to evaluate the feasibility of implementing personalized medication services into community pharmacy practice and to assess the number of drug therapy problems identified as a result of pharmacogenomic screening...
July 6, 2017: Journal of the American Pharmacists Association: JAPhA
https://www.readbyqxmd.com/read/28689263/variation-among-consent-forms-for-clinical-whole-exome-sequencing
#12
Sara A Fowler, Carol J Saunders, Mark A Hoffman
The goal of this study was to explore variation among informed consent documents for clinical whole exome sequencing (WES) in order to identify the level of consistency with the recommendations from the American College of Medical Genetics and Genomics (ACMG) and the Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) regarding informed consent for clinical WES. Recommendations were organized into a framework of key points for analysis. Content analysis was conducted on a sample of informed consent documents for clinical WES downloaded from 18 laboratory websites...
July 8, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28688743/-detection-of-ras-genes-mutation-using-the-cobas-%C3%A2-method-in-a-private-laboratory-of-pathology-medical-and-economical-study-in-comparison-to-a-public-platform-of-molecular-biology-of-cancer
#13
Anne-Flore Albertini, Delphine Raoux, Frédéric Neumann, Stéphane Rossat, Farid Tabet, Florence Pedeutour, Valérie Duranton-Tanneur, Valérie Kubiniek, Olivier Vire, Nicolas Weinbreck
In France, determination of the mutation status of RAS genes for predictive response to anti-EGFR targeted treatments is carried out by public platforms of molecular biology of cancer created by the French National Cancer Institute. This study aims to demonstrate the feasibility of these analyses by a private pathology laboratory (MEDIPATH) as per the requirements of accreditation. We retrospectively studied the mutation status of KRAS and NRAS genes in 163 cases of colorectal metastatic cancer using the Cobas(®) technique...
July 5, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28688606/a-clinical-and-neurophysiological-motor-signature-of-unverricht-lundborg-disease
#14
E Hainque, A Blancher, V Mesnage, S Rivaud-Pechoux, A Bertrand, S Dupont, V Navarro, E Roze, I Gourfinkel-An, E Apartis
OBJECTIVES: Unverricht-Lundborg disease (ULD) is the most common form of progressive myoclonus epilepsy. Cerebellar dysfunction may appear over time, contributing along with myoclonus to motor disability. The purpose of the present work was to clarify the motor and neurophysiological characteristics of ULD patients. METHODS: Nine patients with genetically proven ULD were evaluated clinically (medical history collected from patient charts, the Scale for the Assessment and Rating of Ataxia and Unified Myoclonus Rating Scale)...
July 5, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28682309/laboratory-diagnosis-of-biotinidase-deficiency-2017-update-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#15
Erin T Strovel, Tina M Cowan, Anna I Scott, Barry Wolf
Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these Standards and Guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen...
July 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28673279/pharmacogenetic-evaluation-to-assess-breakthrough-psychosis-with-aripiprazole-long-acting-injection-a-case-report
#16
Seenae Eum, Mark E Schneiderhan, Jacob T Brown, Adam M Lee, Jeffrey R Bishop
BACKGROUND: Given the complex nature of symptom presentation and medication regimens, psychiatric clinics may benefit from additional tools to personalize treatments. Utilizing pharmacogenetic information may be helpful in assessing unique responses to therapy. We report herein a case of wearing-off phenomena during treatment with aripiprazole long-acting injectable (LAI) and a proof of concept strategy of how pharmacogenetic information may be used to assess possible genetic factors and also hypothesize potential mechanisms for further study...
July 3, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28669061/male-patients-affected-by-mosaic-pcdh19-mutations-five-new-cases
#17
I M de Lange, P Rump, R F Neuteboom, P B Augustijn, K Hodges, A I Kistemaker, O F Brouwer, G M S Mancini, H A Newman, Y J Vos, K L Helbig, C Peeters-Scholte, M Kriek, N V Knoers, D Lindhout, B P C Koeleman, M J A van Kempen, E H Brilstra
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy...
July 1, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28667702/tuberous-sclerosis-complex-recent-advances-in-manifestations-and-therapy
#18
REVIEW
Mari Wataya-Kaneda, Motohide Uemura, Kazutoshi Fujita, Haruhiko Hirata, Keigo Osuga, Kuriko Kagitani-Shimono, Norio Nonomura
Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions...
July 1, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28665508/a-polymorphism-in-the-cyp17a1-gene-influences-the-therapeutic-response-to-steroidogenesis-inhibitors-in-cushing-s-syndrome
#19
Elena Valassi, Anna Aulinas, Camilla Am Glad, Gudmundur Johannsson, Oskar Ragnarsson, Susan M Webb
CONTEXT: Steroidogenesis inhibitors, such as ketoconazole (KTZ) and metyrapone (MTP) are used to lower hypercortisolism in patients with Cushing's syndrome (CS). Cortisol normalization is not reached in all patients taking these medications. OBJECTIVE: To test the hypothesis that variants in genes affecting steroidogenesis contribute to different responses to KTZ and/or MTP in patients with CS. PATIENTS AND METHODS: Fifty-four CS patients [46 women; mean (±SD) age, 39...
June 30, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28660599/exploring-asian-indian-and-pakistani-views-about-cancer-and-participation-in-cancer-genetics-research-toward-the-development-of-a-community-genetics-intervention
#20
Amy E Leader, Salini Mohanty, Preethi Selvan, Ray Lum, Veda N Giri
Cancer is a leading cause of mortality among the three million Asian Indian/Pakistanis (AIPs) in the USA. AIPs have traditionally been underrepresented in cancer-related research, although reasons remain largely unexplored. We sought to understand AIP's awareness and perceptions of cancer to improve their participation in risk assessment and cancer genetics research. Four focus groups, stratified by gender and birthplace (US-born vs. foreign-born), were held at an AIP cultural center. Discussions focused on knowledge and awareness of cancer risk; how AIP culture influences cancer perceptions; access to health care services for cancer screening, diagnosis, or treatment; and willingness to or experiences with participating in cancer genetics research...
June 28, 2017: Journal of Community Genetics
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