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Genetic tests for medication use

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https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#1
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28076455/decreased-platelet-responsiveness-to-clopidogrel-correlates-with-cyp2c19-and-pon1-polymorphisms-in-atherosclerotic-patients
#2
J F M Marchini, M R Pinto, G C Novaes, A V Badran, R B Pavão, G L Figueiredo, I M Lago, M O Lima-Filho, D C Lemos, M Tonani, C M Antloga, L Oliveira, J C Lorenzi, J A Marin-Neto
Clopidogrel and aspirin are the most commonly used medications worldwide for dual antiplatelet therapy after percutaneous coronary intervention. However, clopidogrel hyporesponsiveness related to gene polymorphisms is a concern. Populations with higher degrees of genetic admixture may have increased prevalence of clopidogrel hyporesponsiveness. To assess this, we genotyped CYP2C19, ABCB1, and PON1 in 187 patients who underwent percutaneous coronary intervention. Race was self-defined by patients. We also performed light transmission aggregometry with adenosine diphosphate (ADP) and arachidonic acid during dual antiplatelet therapy...
January 9, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28065684/ighmbp2-related-clinical-and-genetic-features-in-a-cohort-of-chinese-charcot-marie-tooth-disease-type-2-patients
#3
Lei Liu, Xiaobo Li, Zhengmao Hu, Xiao Mao, Xiaohong Zi, Kun Xia, Beisha Tang, Ruxu Zhang
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We detected IGHMBP2 mutations in a cohort of Chinese CMT2 patients using genes panel testing, polymerase chain reaction and Sanger sequencing. We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28059100/a-tailored-approach-to-braf-and-mlh1-methylation-testing-in-a-universal-screening-program-for-lynch-syndrome
#4
Tomer Adar, Linda H Rodgers, Kristen M Shannon, Makoto Yoshida, Tianle Ma, Anthony Mattia, Gregory Y Lauwers, Anthony J Iafrate, Daniel C Chung
To determine the correlation between BRAF genotype and MLH1 promoter methylation in a screening program for Lynch syndrome (LS), a universal screening program for LS was established in two medical centers. Tumors with abnormal MLH1 staining were evaluated for both BRAF V600E genotype and MLH1 promoter methylation. Tumors positive for both were considered sporadic, and genetic testing was recommended for all others. A total 1011 colorectal cancer cases were screened for Lynch syndrome, and 148 (14.6%) exhibited absent MLH1 immunostaining...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28055022/laboratory-diagnosis-of-creatine-deficiency-syndromes-a-technical-standard-and-guideline-of-the-american-college-of-medical-genetics-and-genomics
#5
J Daniel Sharer, Olaf Bodamer, Nicola Longo, Silvia Tortorelli, Mirjam M C Wamelink, Sarah Young
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...
January 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28055020/participant-perceived-understanding-and-perspectives-on-pharmacogenomics-the-mayo-clinic-right-protocol-right-drug-right-dose-right-time
#6
Janet E Olson, Carolyn R Rohrer Vitek, Elizabeth J Bell, Michaela E McGree, Debra J Jacobson, Jennifer L St Sauver, Pedro J Caraballo, Joan M Griffin, Veronique L Roger, Suzette J Bielinski
PURPOSE: To examine predictors of understanding preemptive CYP2D6 pharmacogenomics test results and to identify key features required to improve future educational efforts of preemptive pharmacogenomics testing. METHODS: One thousand ten participants were surveyed after receiving preemptive CYP2D6 pharmacogenomics test results. RESULTS: Eighty-six percent (n = 869) of patients responded. Of the responders, 98% were white and 55% were female; 57% had 4 years or more of post-secondary education and an average age of 58...
January 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28050887/assessment-of-in-silico-protein-sequence-analysis-in-the-clinical-classification-of-variants-in-cancer-risk-genes
#7
Iain D Kerr, Hannah C Cox, Kelsey Moyes, Brent Evans, Brianna C Burdett, Aric van Kan, Heather McElroy, Paris J Vail, Krystal L Brown, Dechie B Sumampong, Nicholas J Monteferrante, Kennedy L Hardman, Aaron Theisen, Erin Mundt, Richard J Wenstrup, Julie M Eggington
Missense variants represent a significant proportion of variants identified in clinical genetic testing. In the absence of strong clinical or functional evidence, the American College of Medical Genetics recommends that these findings be classified as variants of uncertain significance (VUS). VUSs may be reclassified to better inform patient care when new evidence is available. It is critical that the methods used for reclassification are robust in order to prevent inappropriate medical management strategies and unnecessary, life-altering surgeries...
January 3, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28045622/use-of-minimal-residual-disease-assessment-to-redefine-induction-failure-in-pediatric-acute-lymphoblastic-leukemia
#8
David O'Connor, Anthony V Moorman, Rachel Wade, Jeremy Hancock, Ronald M R Tan, Jack Bartram, John Moppett, Claire Schwab, Katharine Patrick, Christine J Harrison, Rachael Hough, Nick Goulden, Ajay Vora, Sujith Samarasinghe
Purpose Our aim was to determine the role of end-of-induction (EOI) minimal residual disease (MRD) assessment in the identification and stratification of induction failure in patients with pediatric acute lymphoblastic leukemia (ALL) and to identify genetic abnormalities that drive disease in these patients. Patients and Methods Analysis included 3,113 patients who were treated in the Medical Research Council UKALL2003 multicenter randomized trial (NCT00222612) between 2003 and 2011. MRD was measured by using standardized real-time quantitative PCR...
January 3, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28043897/natural-products-against-alzheimer-s-disease-pharmaco-therapeutics-and-biotechnological-interventions
#9
REVIEW
Abhijit Dey, Raktim Bhattacharya, Anuradha Mukherjee, Devendra Kumar Pandey
Alzheimer's disease (AD) is a severe, chronic and progressive neurodegenerative disease associated with memory and cognition impairment ultimately leading to death. It is the commonest reason of dementia in elderly populations mostly affecting beyond the age of 65. The pathogenesis is indicated by accumulation of the amyloid-beta (Aβ) plaques and neurofibrillary tangles (NFT) in brain tissues and hyperphosphorylation of tau protein in neurons. The main cause is considered to be the formation of reactive oxygen species (ROS) due to oxidative stress...
December 30, 2016: Biotechnology Advances
https://www.readbyqxmd.com/read/28033491/evaluation-of-carbohydrate-cysteamine-thiazolidines-as-pro-drugs-for-the-treatment-of-cystinosis
#10
Yasaman Ramazani, Elena N Levtchenko, Lambertus Van Den Heuvel, Ann Van Schepdael, Prasanta Paul, Ekaterina A Ivanova, Anna Pastore, Trina M Hartman, Neil P J Price
Cystinosis is a genetic disorder caused by malfunction of cystinosin and is characterized by accumulation of cystine. Cysteamine, the medication used in cystinosis, causes halitosis resulting in poor patient compliance. Halitosis is mainly caused by the formation of dimethylsulfide as the final product in the cysteamine metabolism pathway. We have synthesized carbohydrate-cysteamine thiazolidines, and hypothesized that the hydrolytic breakdown of cysteamine-thiazolidines can result in free cysteamine being released in target organs...
December 18, 2016: Carbohydrate Research
https://www.readbyqxmd.com/read/28033448/second-opinions-from-medical-oncologists-for-early-stage-breast-cancer-prevalence-correlates-and-consequences
#11
Allison W Kurian, Christopher R Friese, Irina Bondarenko, Reshma Jagsi, Yun Li, Ann S Hamilton, Kevin C Ward, Steven J Katz
Importance: Advances in the evaluation and treatment of breast cancer have made the clinical decision-making context much more complex. A second opinion from a medical oncologist may facilitate decision making for women with breast cancer, yet little is known about second opinion use. Objective: To investigate the patterns and correlates of second opinion use and the effect on chemotherapy decisions. Design, Setting, and Participants: A total of 1901 women newly diagnosed with stages 0 to II breast cancer between July 2013 and September 2014 (response rate, 71...
December 29, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/28030616/rare-cnvs-in-suicide-attempt-include-schizophrenia-associated-loci-and-neurodevelopmental-genes-a-pilot-genome-wide-and-family-based-study
#12
Marcus Sokolowski, Jerzy Wasserman, Danuta Wasserman
Suicidal behavior (SB) has a complex etiology involving genes and environment. One of the genetic components in SB could be copy number variations (CNVs), as CNVs are implicated in neurodevelopmental disorders. However, a recently published genome-wide and case-control study did not observe any significant role of CNVs in SB. Here we complemented these initial observations by instead using a family-based trio-sample that is robust to control biases, having severe suicide attempt (SA) in offspring as main outcome (n = 660 trios)...
2016: PloS One
https://www.readbyqxmd.com/read/28026806/-determination-of-egfr-gene-somatic-mutations-in-tissues-and-plasma-of-patients-with-advanced-non-small-cell-lung-cancer
#13
O I Brovkina, M G Gordiev, A N Toropovskiy, D S Khodyrev, R F Enikeev, O A Gusev, L H Shigapova, A G Nikitin
The presence of activating mutations in the EGFR gene influences cell proliferation, angiogenesis, and increases metastatic ability; it has a significant impact on the choice of medical therapy of non-small cell lung cancer (NSCLC). The use of targeted therapy with tyrosine kinase inhibitors requires performance of appropriate genetic tests. The aim of this study was to design a real-time PCR-based diagnostic kit for fast and cheap of EGFR mutations testing in paraffin blocks and plasma, and kit validation using samples from patients with NSCLC, and also comparative estimation of diagnostic features of real-time PCR with wild type blocking and digital PCR for mutation testing in blood plasma...
November 2016: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
https://www.readbyqxmd.com/read/28007021/implementation-of-next-generation-sequencing-into-pediatric-hematology-oncology-practice-moving-beyond-actionable-alterations
#14
Jennifer A Oberg, Julia L Glade Bender, Maria Luisa Sulis, Danielle Pendrick, Anthony N Sireci, Susan J Hsiao, Andrew T Turk, Filemon S Dela Cruz, Hanina Hibshoosh, Helen Remotti, Rebecca J Zylber, Jiuhong Pang, Daniel Diolaiti, Carrie Koval, Stuart J Andrews, James H Garvin, Darrell J Yamashiro, Wendy K Chung, Stephen G Emerson, Peter L Nagy, Mahesh M Mansukhani, Andrew L Kung
BACKGROUND: Molecular characterization has the potential to advance the management of pediatric cancer and high-risk hematologic disease. The clinical integration of genome sequencing into standard clinical practice has been limited and the potential utility of genome sequencing to identify clinically impactful information beyond targetable alterations has been underestimated. METHODS: The Precision in Pediatric Sequencing (PIPseq) Program at Columbia University Medical Center instituted prospective clinical next generation sequencing (NGS) for pediatric cancer and hematologic disorders at risk for treatment failure...
December 23, 2016: Genome Medicine
https://www.readbyqxmd.com/read/28002544/the-genetic-architecture-of-major-depressive-disorder-in-han-chinese-women
#15
Roseann E Peterson, Na Cai, Tim B Bigdeli, Yihan Li, Mark Reimers, Anna Nikulova, Bradley T Webb, Silviu-Alin Bacanu, Brien P Riley, Jonathan Flint, Kenneth S Kendler
Importance: Despite the moderate, well-demonstrated heritability of major depressive disorder (MDD), there has been limited success in identifying replicable genetic risk loci, suggesting a complex genetic architecture. Research is needed to quantify the relative contribution of classes of genetic variation across the genome to inform future genetic studies of MDD. Objectives: To apply aggregate genetic risk methods to clarify the genetic architecture of MDD by estimating and partitioning heritability by chromosome, minor allele frequency, and functional annotations and to test for enrichment of rare deleterious variants...
December 21, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27996923/a-framework-for-unrestricted-prenatal-whole-genome-sequencing-respecting-and-enhancing-the-autonomy-of-prospective-parents
#16
Stephanie C Chen, David T Wasserman
Noninvasive, prenatal whole genome sequencing (NIPW) may be a technological reality in the near future, making available a vast array of genetic information early in pregnancy at no risk to the fetus or mother. Many worry that the timing, safety, and ease of the test will lead to informational overload and reproductive consumerism. The prevailing response among commentators has been to restrict conditions eligible for testing based on medical severity, which imposes disputed value judgments and devalues those living with eligible conditions...
January 2017: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/27991432/the-effect-of-proton-pump-inhibitors-on-the-cyp2c19-enzyme-activity-evaluated-by-the-pantoprazole-13-c-breath-test-in-gerd-patients-clinical-relevance-for-personalized-medicine
#17
Anil S Modak, Iryna Klyarytska, Valerij Kriviy, Tatjana Tsapyak, Yliya Rabotyagova
Patients with gastroesophageal reflux disease (GERD) are routinely prescribed one of the six FDA approved proton pump inhibitors (PPI). All of these PPI are inhibitors of CYP2C19 enzyme to varying degrees. The phenotype pantoprazole-(13)C breath test (Ptz-BT) was used to identify patients who are poor metabolizers (PM) and the extent of phenoconversion of CYP2C19 enzyme activity caused by four PPI (omeprazole, esomprazole pantoprazole and rabeprazole) in 54 newly diagnosed GERD patients prior to initiating randomly selected PPI therapy and 30 d after PPI therapy...
December 17, 2016: Journal of Breath Research
https://www.readbyqxmd.com/read/27989553/cerebrovascular-function-in-presymptomatic-and-symptomatic-individuals-with-hereditary-cerebral-amyloid-angiopathy-a-case-control-study
#18
Anna M van Opstal, Sanneke van Rooden, Thijs van Harten, Eidrees Ghariq, Gerda Labadie, Panagiotis Fotiadis, M Edip Gurol, Gisela M Terwindt, Marieke J H Wermer, Mark A van Buchem, Steven M Greenberg, Jeroen van der Grond
BACKGROUND: Previous work suggests that impairments of cerebrovascular flow or reactivity might be early markers of cerebral amyloid angiopathy (CAA). Hereditary cerebral haemorrhage with amyloidosis-Dutch type (HCHWA-D) is a genetic form of CAA that can be diagnosed before the onset of clinical symptoms by DNA testing. We aimed to investigate whether haemodynamic measures are decreased in presymptomatic and symptomatic HCHWA-D mutation carriers compared with healthy controls. METHODS: In this case-control study, we included presymptomatic and symptomatic HCHWA-D mutation carriers diagnosed through genetic testing and recruited through the HCHWA-D patient association (Katwijk, Netherlands) and the outpatient clinic of the Department of Neurology of the Leiden University Medical Center (Leiden, Netherlands), and healthy controls...
December 15, 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27986496/medical-diagnostics-for-indoor-mold-exposure
#19
REVIEW
Julia Hurraß, 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, Gerhard A Wiesmüller
In April 2016, the German Society of Hygiene, Environmental Medicine and Preventative Medicine (Gesellschaft für Hygiene, Umweltmedizin und Präventivmedizin (GHUP)) together with other scientific medical societies, German and Austrian medical societies, physician unions and experts has provided an AWMF (Association of the Scientific Medical Societies) guideline 'Medical diagnostics for indoor mold exposure'. This guideline shall help physicians to advise and treat patients exposed indoors to mold. Indoor mold growth is a potential health risk, even without a quantitative and/or causal association between the occurrence of individual mold species and health effects...
December 5, 2016: International Journal of Hygiene and Environmental Health
https://www.readbyqxmd.com/read/27978792/predicting-stability-of-mild-cognitive-impairment-mci-findings-of-a-community-based-sample
#20
Sinika Ellendt, Bianca Voß, Nils Kohn, Lisa Wagels, Katharina Goerlich, Eva Drexler, Frank Schneider, Ute Habel
BACKGROUND: Mild Cognitive Impairment (MCI) is a risk factor for Alzheimer's disease (AD) and other forms of dementia. However, much heterogeneity concerning neuropsychological measures, prevalence and progression rates impedes distinct diagnosis and treatment implications. OBJECTIVE: Aim of the present study was the identification of specific tests providing a high certainty for stable MCI and factors that precipitate instability of MCI in a community based sample examined at three measurement points...
December 13, 2016: Current Alzheimer Research
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