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Pharmacogenetics

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https://www.readbyqxmd.com/read/28323671/codeine-and-opioid-metabolism-implications-and-alternatives-for-pediatric-pain-management
#1
Vidya Chidambaran, Senthilkumar Sadhasivam, Mohamed Mahmoud
PURPOSE OF REVIEW: Use of perioperative opioids for surgical pain management of children presents clinical challenges because of concerns of serious adverse effects including life-threatening respiratory depression. This is especially true for children with history of obstructive sleep apnea. This review will explore current knowledge of clinically relevant factors and genetic polymorphisms that affect opioid metabolism and postoperative outcomes in children. RECENT FINDINGS: Within the past several years, an increasing number of case reports have illustrated clinically important respiratory depression, anoxic brain injuries and even death among children receiving appropriate weight-based dosages of codeine and other opioids for analgesia at home setting particularly following tonsillectomy...
March 18, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28318610/pharmacogenetics-of-immunosuppressants-state-of-the-art-and-clinical-implementation%C3%A2-%C3%A2-recommendations-from-the-french-national-network-of-pharmacogenetics-rnpgx
#2
Jean-Baptiste Woillard, Laurent Chouchana, Nicolas Picard, Marie-Anne Loriot
Therapeutic drug monitoring is already widely used for immunosuppressive drugs due to their narrow therapeutic index. This article summarizes evidence reported in the literature regarding the pharmacogenetics of (i) immunosuppressive drugs used in transplantation and (ii) azathioprine used in chronic inflammatory bowel disease. The conditions of use of currently available major pharmacogenetic tests are detailed and recommendations are provided based on a scale established by the RNPGx scoring tests as "essential", "advisable" and "potentially useful"...
January 30, 2017: Thérapie
https://www.readbyqxmd.com/read/28317081/pharmacogenetic-predictors-of-treatment-related-toxicity-among-children-with-acute-lymphoblastic-leukemia
#3
REVIEW
Rochelle R Maxwell, Peter D Cole
PURPOSE OF REVIEW: The aim of this review is to summarize the most recent and most robust pharmacogenetic predictors of treatment-related toxicity (TRT) in childhood acute lymphoblastic leukemia (ALL). RECENT FINDINGS: Multiple studies have examined the toxicities of the primary chemotherapeutic agents used to treat childhood ALL in relation to host genetic factors. However, few results have been replicated independently, largely due to cohort differences in ancestry, chemotherapy treatment protocols, and definitions of toxicities...
March 20, 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28316087/influence-of-abcc2-cyp2c8-and-cyp2j2-polymorphisms-on-tacrolimus-and-mycophenolate-sodium-based-treatment-in-brazilian-kidney-transplant-recipients
#4
Fabiana D V Genvigir, Alvaro M Nishikawa, Claudia R Felipe, Helio Tedesco-Silva, Nagilla Oliveira, Antony B C Salazar, Jose O Medina-Pestana, Sonia Q Doi, Mario H Hirata, Rosario D C Hirata
STUDY OBJECTIVE: To investigate the influence of single nucleotide polymorphisms (SNPs) in genes encoding metabolizing enzymes (CYP2C8, CYP2J2, and UGT2B7) and transporters (ABCC2 and ABCG2) on dose and/or dose-adjusted trough blood concentrations (C/D ratio), clinical outcomes, and occurrence of adverse events of tacrolimus and mycophenolate sodium in Brazilian kidney transplant recipients. DESIGN: Pharmacogenetic analysis of patients enrolled in a previously published study...
March 17, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28315856/an-update-on-hla-alleles-associated-with-adverse-drug-reactions
#5
Ingrid Fricke-Galindo, Adrián LLerena, Marisol López-López
Adverse drug reactions (ADRs) are considered as an important cause of morbidity and mortality. The hypersensitivity reactions are immune-mediated ADRs, which are dose-independent, unpredictable and have been associated with several HLA alleles. The present review aimed to describe HLA alleles that have been associated with different ADRs in populations worldwide, the recommendations of regulatory agencies and pharmacoeconomic information and databases for the study of HLA alleles in pharmacogenetics. A systematic search was performed in June 2016 of articles relevant to this issue in indexed journals and in scientific databases (PubMed and PharmGKB)...
March 18, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28315743/treatment-with-peg-ifn-and-ribavirin-in-patients-with-chronic-hepatitis-c-low-grade-of-hepatic-fibrosis-genotype-1-and-4-and-favorable-ifnl3-genotype-a-pharmacogenetic-prospective-study
#6
Lucio Boglione, Chiara Simona Cardellino, Jessica Cusato, Amedeo De Nicolò, Giuseppe Cariti, Giovanni Di Perri, Antonio D'Avolio
The new direct-acting antivirals agents (DAAs) rapidly changed the treatment approach in chronic hepatitis C (CHC); however, the interferon (IFN)-free therapies availability is currently different in some countries, due to higher costs of these drugs. Naïve treated patients, who are not eligible for IFN-free therapies, could be selected for standard dual treatment with pegylated (PEG)-IFN and ribavirin (RBV), through IFN lambda 3 gene polymorphisms and fibrosis stage evaluation. Inclusion criteria were: naïve treated CHC patients with GT1 or GT4, without major contraindication to PEG-IFN or RBV, with fibrosis stage F0-F2 and IFNL3 rs8099917/rs12979860 TT/CC genotypes...
March 15, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28314093/clinical-impact-of-pharmacogenetic-guided-treatment-for-patients-exhibiting-neuropsychiatric-disorders-a-randomized-controlled-trial
#7
Marilyn C Olson, Alejandra Maciel, Jean Francois Gariepy, Ali Cullors, Juan-Sebastian Saldivar, David Taylor, Joel Centeno, Jorge A Garces, Sandeep Vaishnavi
Objective: Pharmacogenetic testing holds promise as a personalized medicine tool by permitting individualization of pharmacotherapy in accordance with genes influencing therapeutic response, side effects, and adverse events. The authors evaluated the effect on outcomes for patients diagnosed with neuropsychiatric disorders of pharmacogenetics (PGx)-guided treatment compared to usual standard of care. Methods: This was a prospective, randomized study of 237 patients at an outpatient community-based psychiatric practice conducted between April 2015 and October 2015...
March 16, 2017: Primary Care Companion to CNS Disorders
https://www.readbyqxmd.com/read/28299396/no-correlation-between-mthfr-c-677-c%C3%A2-%C3%A2-t-mthfr-c-1298-a%C3%A2-%C3%A2-c-and-abcb1-c-3435-c%C3%A2-%C3%A2-t-polymorphisms-and-methotrexate-therapeutic-outcome-of-rheumatoid-arthritis-in-west-algerian-population
#8
Wefa Boughrara, Ahmed Benzaoui, Meriem Aberkane, Fatima Zohra Moghtit, Samia Dorgham, Aicha Sarah Lardjam-Hetraf, Hadjer Ouhaibi-Djellouli, Elisabeth Petit Teixeira, Abdallah Boudjema
CONTEXT: The c.677 C > T and c.1298 A > C polymorphisms of methylenetatrahydrofolate reductase (MTHFR) gene and c.3435 C > T polymorphism of ATP-Binding cassette B1 (ABCB1) gene are reported as pharmacogenetic markers, influencing the methotrexate (MTX) therapeutic outcome in rheumatoid arthritis (RA) patients. OBJECTIVES: The aims of this study were to determine the relationship between these polymorphisms and clinical response and/or adverse drug reaction (ADRs) to MTX treatment...
March 15, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28296649/a-nomogram-to-predict-5-fluorouracil-toxicity-when-pharmacogenomics-meets-the-patient
#9
Andrea Botticelli, Concetta E Onesti, Lidia Strigari, Mario Occhipinti, Francesca R Di Pietro, Bruna Cerbelli, Antonella Petremolo, Elisabetta Anselmi, Serena Macrini, Michela Roberto, Rosa Falcone, Luana Lionetto, Marina Borro, Annalisa Milano, Giovanna Gentile, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
Fluoropyrimidines combined with other agents are commonly used for gastrointestinal cancer treatment. Considering that severe toxicities occur in 30% of patients, we aimed to structure a nomogram to predict toxicity, based on metabolic parameter and patients' characteristics. We retrospectively enrolled patients affected by gastrointestinal tract cancers. Pretreatment 5-fluorouracil (5-FU) degradation rate and DPYD, TSER, MTHFR A1298T, and C677T gene polymorphisms were characterized. Data on toxicities were collected according to CTCAE v3...
March 14, 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28294551/the-ignite-pharmacogenetics-working-group-an-opportunity-for-building-evidence-with-pharmacogenetic-implementation-in-a-real-world-setting
#10
REVIEW
L H Cavallari, A L Beitelshees, K V Blake, L G Dressler, J D Duarte, A Elsey, J N Eichmeyer, P E Empey, J P Franciosi, J K Hicks, A M Holmes, Ljb Jeng, C R Lee, J J Lima, N A Limdi, J Modlin, A O Obeng, N Petry, V M Pratt, T C Skaar, S Tuteja, D Voora, M Wagner, K W Weitzel, R A Wilke, J F Peterson, J A Johnson
No abstract text is available yet for this article.
March 14, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28293925/genetic-signatures-of-asthma-exacerbation
#11
REVIEW
Heung Woo Park, Kelan G Tantisira
Asthma exacerbation (AE) usually denotes worsening of asthma symptoms that requires intense management to prevent further deterioration. AE has been reported to correlate with clinical and demographic factors, such as race, gender, and treatment compliance as well as environmental factors, such as viral infection, smoking, and air pollution. In addition, recent observations suggest that there are likely to be genetic factors specific to AE. Understanding genetic factors specific to AE is essential to develop therapy tailored for exacerbation-prone asthma...
May 2017: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/28291238/polymorphisms-of-5-htt-lpr-and-gn%C3%AE-3-825c-t-and-response-to-antidepressant-treatment-in-functional-dyspepsia-a-study-from-the-functional-dyspepsia-treatment-trial
#12
Yuri A Saito, G Richard Locke, Ann E Almazar, Ernest P Bouras, Colin W Howden, Brian E Lacy, John K DiBaise, Charlene M Prather, Bincy P Abraham, Hashem B El-Serag, Paul Moayyedi, Linda M Herrick, Lawrence A Szarka, Michael Camilleri, Frank A Hamilton, Cathy D Schleck, Katherine E Tilkes, Alan R Zinsmeister, Nicholas J Talley
OBJECTIVES: The Functional Dyspepsia Treatment Trial reported that amitriptyline (AMI) was associated with adequate relief of functional dyspepsia (FD) symptoms, but the pharmacogenetics of antidepressant response in FD are not known. GNβ3 825C>T CC genotype has been previously linked to FD and TT genotype to antidepressant response in depression. The ss genotype of the 5-HTT LPR variant of the serotonin transporter gene (SLC6A4) has been linked to selective serotonin reuptake inhibitor (SSRI) response...
March 14, 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28289867/association-of-the-hoct1-abcb1-genotype-with-efficacy-and-tolerability-of-imatinib-in-patients-affected-by-chronic-myeloid-leukemia
#13
Laura Galeotti, Francesco Ceccherini, Dario Domingo, Marco Laurino, Marialuisa Polillo, Antonello Di Paolo, Claudia Baratè, Carmen Fava, Antonio D'Avolio, Giulia Cervetti, Francesca Guerrini, Giulia Fontanelli, Elena Ciabatti, Susanna Grassi, Elena Arrigoni, Romano Danesi, Mario Petrini, Fulvio Cornolti, Giuseppe Saglio, Sara Galimberti
PURPOSE: The present study was aimed at investigating whether imatinib pharmacogenetics is related to its pharmacodynamics in patients affected by chronic myeloid leukemia. METHODS: Through a procedure based on a sequence of classical statistics methods, we investigated the possible relationships between treatment efficacy/tolerability and combinations of time-independent variables as gender and genetic covariates in the form of single nucleotide polymorphisms (SNPs) or combinations thereof...
March 13, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28288198/risk-for-molecular-contamination-of-tissue-samples-evaluated-for-targeted-anti-cancer-therapy
#14
Eyal Asor, Michael Y Stav, Einav Simon, Ibrahim Fahoum, Edmond Sabo, Ofer Ben-Izhak, Dov Hershkovitz
With the increasing usage of sensitive PCR technology for pharmacogenetics, cross contamination becomes a significant concern. Researchers employed techniques which basically include replacing laboratory equipment after each sample preparation; however, there are no recommended guidelines. In the present work we wanted to evaluate the risk of cross contamination during tissue processing using the routine precaution measures. Twenty-one surgical samples of lung adenocarcinoma were used, of which 7 contained EGFR exon 19 mutation, 7 contained EGFR exon 21 mutation (p...
2017: PloS One
https://www.readbyqxmd.com/read/28287671/genetic-testing-for-psychopharmacology-is-it-ready-for-prime-time
#15
Laura G Leahy
Genetic testing in psychiatric practice may be a beneficial adjunct to the nursing toolbox of considerations used to improve patient outcomes. Since 2004, the psychiatric community has used genotyping to personalize medication options for their patients. Although not a definitive or exact science, pharmacogenetic testing for psychopharmacological treatment options offers nurses and their patients insights into potential treatments that will reduce the current trial-and-error prescribing practices and more quickly improve patients' quality of life...
March 1, 2017: Journal of Psychosocial Nursing and Mental Health Services
https://www.readbyqxmd.com/read/28283692/pharmacokinetics-and-pharmacogenetics-of-the-mek1-2-inhibitor-selumetinib-in-asian-and-western-healthy-subjects-a-pooled-analysis
#16
Angela W Dymond, Cathy Elks, Paul Martin, David J Carlile, Gabriella Mariani, Susan Lovick, Yifan Huang, Ulrike Lorch, Helen Brown, Karen So
PURPOSE: Emerging data on selumetinib, a MEK1/2 inhibitor in clinical development, suggest a possible difference in pharmacokinetics (PK) between Japanese and Western patients. This pooled analysis sought to assess the effect of ethnicity on selumetinib exposure in healthy Western and Asian subjects, and to identify any association between genetic variants in the UGT1A1, CYP2C19 and ABCG2 genes and observed differences in selumetinib PK. METHODS: A pooled analysis of data from ten Phase I studies, one in Asian subjects (encompassing Japanese, non-Japanese Asian and Indian Asian subjects) and nine in Western subjects, was conducted...
March 10, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28283684/pharmacogenetics-in-type-2-diabetes-precision-medicine-or-discovery-tool
#17
REVIEW
Jose C Florez
In recent years, technological and analytical advances have led to an explosion in the discovery of genetic loci associated with type 2 diabetes. However, their ability to improve prediction of disease outcomes beyond standard clinical risk factors has been limited. On the other hand, genetic effects on drug response may be stronger than those commonly seen for disease incidence. Pharmacogenetic findings may aid in identifying new drug targets, elucidate pathophysiology, unravel disease heterogeneity, help prioritise specific genes in regions of genetic association, and contribute to personalised or precision treatment...
March 10, 2017: Diabetologia
https://www.readbyqxmd.com/read/28283541/comprehensive-pharmacogenetic-profiling-of-the-epidermal-growth-factor-receptor-pathway-for-biomarkers-of-response-to-and-toxicity-from-cetuximab
#18
Ayman Madi, David Fisher, Timothy S Maughan, James P Colley, Angela M Meade, Sabine Tejpar, Ben Van den Bosch, Julie Maynard, Vikki Humphreys, Harpreet Wasan, Richard A Adams, Shelley Idziaszczyk, Rebecca Harris, Richard S Kaplan, Jeremy P Cheadle
BACKGROUND: Somatic mutations in the epidermal growth factor receptor (EGFR) intracellular signalling pathways predict non-response to cetuximab in the treatment of advanced colorectal cancer (aCRC). We hypothesised that common germline variants within these pathways may also play similar roles. METHODS: We analysed 54 potentially functional, common, inherited EGFR pathway variants in 815 patients with aCRC treated with oxaliplatin-fluoropyrimidine chemotherapy plus cetuximab...
March 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28282720/precision-medicine-approach-to-anaplastic-thyroid-cancer-advances-in-targeted-drug-therapy-based-on-specific-signaling-pathways
#19
Hilda Samimi, Parviz Fallah, Alireza Naderi Sohi, Rezvan Tavakoli, Mahmood Naderi, Masoud Soleimani, Bagher Larijani, Vahid Haghpanah
Personalized medicine is a set of diagnostic, prognostic and therapeutic approaches in which medical interventions are carried out based on individual patient characteristics. As life expectancy increases in developed and developing countries, the incidence of diseases such as cancer goes up among people in the community. Cancer is a disease that the response to treatment varies from one person to another and also it is costly for individuals, families, and society. Among thyroid cancers, anaplastic thyroid carcinoma (ATC) is the most aggressive, lethal and unresponsive form of the disease...
March 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28282719/pharmacogenetics-and-personalized-medicine-in-pancreatic-cancer
#20
Ali Hosseini Bereshneh, Fatemeh Morshedi, Mahsa Hematyar, Arastoo Kaki, Masoud Garshasbi
 Pancreatic cancer (PC) is a progressive, fatal disease with a high degree of malignancy. More than 40000 peoplediefrom this cancer annually in the United States. As a multifactorial condition, PC has a complex nature, and there are several genes and signalingpathwaysimplicated in PC pathogenesis and progression. There are diffèrent mutations in master genesincludingtumorsuppressors and oncogenesthat lead to Pancreaticintraepithelialneoplasia (PanIN) whichis the mostcommon non-invasive precursorlesion of pancreatic cancer...
March 2017: Acta Medica Iranica
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