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Pharmacogenomics and Personalized Medicine

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https://www.readbyqxmd.com/read/29731659/meta-analysis-of-the-association-of-the-haptoglobin-genotype-with-cardiovascular-outcomes-and-the-pharmacogenomic-interactions-with-vitamin-e-supplementation
#1
Rabea Asleh, Alexandros Briasoulis, Elliot M Berinstein, Joshua B Wiener, Mohan Palla, Sudhir S Kushwaha, Andrew P Levy
Objectives: The objectives of the study were to compile and summarize the data from all of the clinical trials designed to examine the association between haptoglobin (Hp) genotype and incidence of cardiovascular (CV) events in patients with diabetes mellitus (DM) and to assess the impact of vitamin E treatment on CV outcomes according to the Hp genotype. Background: The Hp genotype could serve as a predictive biomarker to DM patients who may benefit from vitamin E therapy...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29731658/budget-impact-model-for-oncopharmacogenetics-from-the-perspective-of-mandatory-basic-health-insurance-in-switzerland-using-the-example-of-breast-cancer
#2
Thomas D Szucs, Kevin P Szillat, Eva Blozik
Single-nucleotide polymorphisms (SNPs) can severely impact individual drug response and health outcomes in cancer patients. Genetic tests to screen for marker SNPs are available to adjust the drug dose of oncologicals to the patient's needs. However, it is unclear whether the positive effects outbalance the increased costs or even lead to an overall cost reduction. This very pragmatic analysis used three frequently used oncologicals for the treatment of breast cancer to evaluate whether preemptive pharmacogenetic testing may have a cost-reducing impact on health care spending in the Swiss health care system...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29692621/h3africa-current-perspectives
#3
REVIEW
Nicola Mulder, Alash'le Abimiku, Sally N Adebamowo, Jantina de Vries, Alice Matimba, Paul Olowoyo, Michele Ramsay, Michelle Skelton, Dan J Stein
Precision medicine is being enabled in high-income countries by the growing availability of health data, increasing knowledge of the genetic determinants of disease and variation in response to treatment (pharmacogenomics), and the decreasing costs of data generation, which promote routine application of genomic technologies in the health sector. However, there is uncertainty about the feasibility of applying precision medicine approaches in low- and middle-income countries, due to the lack of population-specific knowledge, skills, and resources...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29636628/cyp2c9-polymorphisms-in-epilepsy-influence-on-phenytoin-treatment
#4
REVIEW
Carlos Eduardo Silvado, Vera Cristina Terra, Carlos Alexandre Twardowschy
Phenytoin (PHT) is an antiepileptic drug widely used in the treatment of focal epilepsy and status epilepticus, and effective in controlling focal seizures with and without tonic-clonic generalization and status epilepticus. The metabolization of PHT is carried out by two oxidative cytochrome P450 enzymes CYP2C9 and CYP2C19; 90% of this metabolization is done by CYP2C9 and the remaining 10% by CYP2C19. Genetic polymorphism of CYP2C9 may reduce the metabolism of PHT by 25-50% in patients with variants *2 and *3 compared to those with wild-type variant *1...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29606886/influence-of-abcb1-and-cyp3a5-gene-polymorphisms-on-pharmacokinetics-of-apixaban-in-patients-with-atrial-fibrillation-and-acute-stroke
#5
Alexander Valerevich Kryukov, Dmitry Alekseevich Sychev, Denis Anatolevich Andreev, Kristina Anatolievna Ryzhikova, Elena Anatolievna Grishina, Anastasia Vladislavovna Ryabova, Mark Alekseevich Loskutnikov, Valeriy Valerevich Smirnov, Olga Dmitrievna Konova, Irina Andreevna Matsneva, Pavel Olegovich Bochkov
Introduction: Difficulties in non-vitamin K anticoagulant (NOAC) administration in acute stroke can be associated with changes in pharmacokinetic parameters of NOAC such as biotransformation, distribution, and excretion. Therefore, obtaining data on pharmacokinetics of NOAC and factors that affect it may help develop algorithms for personalized use of this drug class in patients with acute cardioembolic stroke. Patients and methods: Pharmacokinetics of apixaban in patients with acute stroke was studied earlier by Kryukov et al...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29588611/the-utility-of-pharmacogenetic-testing-to-support-the-treatment-of-bipolar-disorder
#6
Marta Ielmini, Nicola Poloni, Ivano Caselli, Jordi Espadaler, Miquel Tuson, Alessandro Grecchi, Camilla Callegari
Background: Bipolar disorder (BD) is a frequent cause of disability, health care costs, and risk of suicide. Pharmacogenetic tests (PGTs) could help clinicians to identify those patients predisposed to the occurrence of adverse events (AEs) improving the understanding of the correlation between genetic variants and drug response. Materials and methods: The study evaluated 30 patients affected by BD type I or II (according to Diagnostic and Statistical Manual of Mental Disorders, version 5 ) who underwent the PGT Neurofarmagen® (AB-BIOTICS SA, Barcelona, Spain) between March 2016 and March 2017...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29563827/cyp3a5-polymorphisms-in-renal-transplant-recipients-influence-on-tacrolimus-treatment
#7
REVIEW
Lucy Chen, G V Ramesh Prasad
Tacrolimus is a commonly used immunosuppressant after kidney transplantation. It has a narrow therapeutic range and demonstrates wide interindividual variability in pharmacokinetics, leading to potential underimmunosuppression or toxicity. Genetic polymorphism in CYP3A5 enzyme expression contributes to differences in tacrolimus bioavailability between individuals. Individuals carrying one or more copies of the wild-type allele *1 express CYP3A5, which increases tacrolimus clearance. CYP3A5 expressers require 1...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29497326/which-attributes-of-whole-genome-sequencing-tests-are-most-important-to-the-general-population-results-from-a-german-preference-study
#8
Marika Plöthner, Katharina Schmidt, Clarissa Schips, Kathrin Damm
Objective: The aim of this study was to identify the preferences for whole genome sequencing (WGS) tests without genetic counseling. Methods: A discrete choice experiment was conducted where participants chose between two hypothetical alternatives consisting of the following attributes: test accuracy, test costs, identified diseases, probability of disease occurrence, and data access. People from the general German population aged ≥18 years were eligible to participate in the survey...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29343979/the-influence-of-cyp3a5-polymorphisms-on-haloperidol-treatment-in-patients-with-alcohol-addiction
#9
Mikhail Sergeevich Zastrozhin, Elena Anatolievna Grishina, Kristina Anatolievna Ryzhikova, Valery Valerievich Smirnov, Ludmila Mikhailovna Savchenko, Evgeny Alekseevich Bryun, Dmitry Alekseevich Sychev
Background: Isoenzymes CYP2D6 and CYP3A4, the activity of which varies widely, are involved in metabolism of haloperidol and may influence its profile of efficacy and safety. Objective: The primary aim of this study was to estimate the relationship between CYP3A5 gene polymorphism, activity of the CYP3A isoenzyme, and the risk of development of adverse drug reactions by haloperidol in patients with alcohol abuse. Methods: Sixty-six male alcohol-addicted patients participated in the study...
2018: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29255371/ethiopian-health-care-professionals-knowledge-attitude-and-interests-toward-pharmacogenomics
#10
Ousman Abubeker Abdela, Akshaya Srikanth Bhagavathula, Eyob Alemayehu Gebreyohannes, Henok Getachew Tegegn
Background: Pharmacogenomics is a field of science which studies the impact of inheritance on individual variation in medication therapy response. Aim: We assessed healthcare professionals' knowledge, attitude, and interest toward pharmacogenomics. Methods: A cross-sectional survey was conducted using a 32-item questionnaire among physicians, nurses, and pharmacists who were working at the University of Gondar Referral and Teaching Hospital in northwest Ethiopia...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29184431/update-on-the-clinical-utility-of-an-rna-interference-based-treatment-focus-on-patisiran
#11
REVIEW
Malak Rizk, Şükrü Tüzmen
RNA interference (RNAi) is a naturally existing endogenous mechanism for post-transcriptional gene regulation, nowadays commonly utilized for functional characterization of genes and development of potential treatment strategies for diseases. RNAi-based studies for therapy, after being examined for over a decade, are finally in the pipeline for developing a potential treatment for the mutated transthyretin (TTR) gene, which gives rise to a dysfunctional TTR protein. This dysfunctional protein causes TTR amyloidosis (ATTR), an inherited, progressively incapacitating, and often fatal genetic disorder...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29089781/pharmacogenomics-of-sickle-cell-disease-steps-toward-personalized-medicine
#12
REVIEW
Marium Husain, Amber D Hartman, Payal Desai
Sickle cell disease (SCD) is a monogenetic disease but has a wide range of phenotypic expressions. Some of these differences in phenotype can be explained by genetic polymorphisms in the human globin gene. These polymorphisms can result in different responses to typical treatment, sometimes leading to inadequate therapeutics. Research is revealing more polymorphisms, and therefore, new targets for intervention to improve outcomes in SCD. This area of pharmacogenomics is continuing to develop. We provide a brief review of the current literature on pharmacogenomics in SCD and possible targets for intervention...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29075133/do-cyp2c19-and-abcb1-gene-polymorphisms-and-low-cyp3a4-isoenzyme-activity-have-an-impact-on-stent-implantation-complications-in-acute-coronary-syndrome-patients
#13
Eric Rytkin, Karin B Mirzaev, Elena A Grishina, Valeriy V Smirnov, Kristina A Ryzhikova, Zhannet A Sozaeva, Michael Iu Giliarov, Denis A Andreev, Dmitriy A Sychev
AIM: The aim of this study was to determine the impact of CYP2C19 and ABCB1 gene polymorphisms and CYP3A4 isoenzyme activity on stent implantation complications among patients with an acute coronary syndrome (ACS) who underwent percutaneous coronary intervention (PCI). PATIENTS AND METHODS: Seventy-six patients (median age 63, range 37-91 years) with an ACS who underwent PCI were screened for CYP2C19 and ABCB1 gene polymorphisms with real-time polymerase chain reaction: CYP2C19*2 , CYP2C19*17 , and ABCB1 3435 ...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29033601/urine-metabolic-ratio-of-omeprazole-in-relation-to-cyp2c19-polymorphisms-in-russian-peptic-ulcer-patients
#14
Natalia P Denisenko, Dmitriy A Sychev, Zhanna M Sizova, Valeriy V Smirnov, Kristina A Ryzhikova, Zhannet A Sozaeva, Elena A Grishina
BACKGROUND: CYP2C19 is known to be the main enzyme of biotransformation of proton pump inhibitors (PPIs), whereas the CYP2C19 gene is highly polymorphic. Genotyping and phenotyping together represent more reliable data about patient's CYP2C19 activity. PURPOSE: The aim of the study was to investigate the applicability of urine metabolic ratio of omeprazole for CYP2C19 phenotyping in Russian peptic ulcer patients with different CYP2C19 genotypes. PATIENTS AND METHODS: A total of 59 patients (19 men and 40 women) aged 18-91 years (mean age 53...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/29026329/pharmacogenomic-testing-aiding-in-the-management-of-psychotropic-therapy-for-adolescents-with-autism-spectrum-disorders
#15
Seuli Bose-Brill, Jinming Xing, Debra J Barnette, Christopher Hanks
Adolescents with autism have higher rates of anxiety than the general adolescent population. They often struggle to express psychological symptoms verbally where their symptoms may manifest as withdrawal and agitation. Adolescent patients with autism have higher rates of polypharmacy and high-risk psychiatric medication use (eg, atypical antipsychotics) than other patients with psychiatric illness. Primary care pediatricians are at the front lines of psychiatric management for patients with autism. Yet, they have inadequate access to pediatric psychiatry for complex medication management...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28919802/abcb1-and-abcc1-single-nucleotide-polymorphisms-in-patients-treated-with-clozapine
#16
Irina Piatkov, Dorgival Caetano, Yolinda Assur, Sue Lynn Lau, Trudi Jones, Steven C Boyages, Mark McLean
Clozapine (CZ) has superior efficacy to other antipsychotic agents in the treatment of schizophrenia and has been extensively used in clinical practice. ATP-binding cassette (ABC) transporter proteins are responsible for the distribution of various molecules as well as drugs across extracellular and intracellular membranes, including the blood-brain barrier. Genetic variations in these proteins can account for differences in treatment response. We investigated the influence of ABCB1 rs1045642 and ABCC1 rs212090 single-nucleotide polymorphisms (SNPs) on CZ serum level, clinical outcome, and changes in body mass index (BMI) in the first year of CZ treatment...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28883739/hyperbilirubinemia-in-atazanavir-treated-human-immunodeficiency-virus-infected-patients-the-impact-of-the-ugt1a1-28-allele
#17
COMMENT
Anushka Naidoo, Kogieleum Naidoo, Veron Ramsuran, Millidhashni Reddy, Nesri Padayatchi
No abstract text is available yet for this article.
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28860839/updating-the-landscape-of-direct-to-consumer-pharmacogenomic-testing
#18
REVIEW
Kelly K Filipski, John D Murphy, Kathy J Helzlsouer
Pharmacogenomics has identified important drug-gene interactions that affect the safety and efficacy of medications. Direct-to-consumer genetic testing, when first introduced, included some pharmacogenomic-related genes. The current landscape of pharmacogenomic direct-to-consumer testing is reviewed. Prior published reviews of the literature were updated through February 2017 and a scan of the current availability of direct-to-consumer genomic testing by companies was conducted. Results of the review demonstrate a shift toward physician-approved ordering...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28790862/hyperbilirubinemia-in-atazanavir-treated-hiv-infected-patients-the-impact-of-the-ugt1a1-28-allele
#19
REVIEW
Periklis Panagopoulos, Efstathios Maltezos, Angelos Hatzakis, Dimitrios Paraskevis
Combination antiretroviral treatment (cART) has significantly improved the life expectancy of people living with HIV. The life-long nature of cART increases the risk of side effects, which in some cases may have been caused by specific genetic characteristics. Patients treated with atazanavir (ATV) boosted with ritonavir (rit), which is a protease inhibitor used for the treatment of HIV, present with elevated bilirubin levels, at high proportions. ATV/rit-related hyperbilirubinemia has been previously associated with genetic characteristics in uridine diphosphate glucuronosyltransferase (UGT) enzyme...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28769582/cyp2d6-phenotypes-are-associated-with-adverse-outcomes-related-to-opioid-medications
#20
Jennifer L St Sauver, Janet E Olson, Veronique L Roger, Wayne T Nicholson, John L Black, Paul Y Takahashi, Pedro J Caraballo, Elizabeth J Bell, Debra J Jacobson, Nicholas B Larson, Suzette J Bielinski
BACKGROUND: Variation in the CYP2D6 gene may affect response to opioids in both poor and ultrarapid metabolizers, but data demonstrating such associations have been mixed, and the impact of variants on toxicity-related symptoms (e.g., nausea) is unclear. Therefore, we examined the association between CYP2D6 phenotype and poor pain control or other adverse symptoms related to the use of opioids in a sample of primary care patients. MATERIALS AND METHODS: We identified all patients in the Mayo Clinic RIGHT Protocol who were prescribed an opioid medication between July 01, 2013 and June 30, 2015, and categorized patients into three phenotypes: poor, intermediate to extensive, or ultrarapid CYP2D6 metabolizers...
2017: Pharmacogenomics and Personalized Medicine
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