23,483 results match your criteria Pharmacogenomics and Personalized Medicine [Journal]
Pharmacogenomics 2018 Dec 12. Epub 2018 Dec 12.
Department of Oncology, Faculty of Medicine & Dentistry, Palacky University Olomouc, University Hospital Olomouc, Czech Republic.
Pancreatic carcinoma is usually diagnosed late when treatment options are limited and is considered a chemo-resistant malignancy. However, early stage, good performance status and specific patient subgroup are thought to have a more favorable prognosis. Search for novel molecular biomarkers, which could predict treatment resistance, represents a major opportunity, but also a challenge in further research. Read More
Pathol Oncol Res 2018 Dec 11. Epub 2018 Dec 11.
Department of General Surgery, Department of Hepatopancreatobiliary Surgery, Zhengzhou Central Hospital Affiliated to Zhengzhou University, Tongbai Road #195, Zhengzhou, 450007, Henan, China.
APTR has been employed as a potential biomarker attributing to it was involved in carcinogenesis and malignancy's progression. However, the roles of APTR in papillary thyroid cancer (PTC) and anaplastic thyroid cancer (ATC) are unclear. In the present study, we aimed to explore the relative expression of APTR in PTC and ATC tissues and the relation between APTR expression and PTC clinicopathological features. Read More
J Pharmacol Sci 2018 Nov 25. Epub 2018 Nov 25.
Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha, Hunan, China; Hunan Key Laboratory of Pharmacogenetics, Changsha, Hunan, China. Electronic address:
Metformin is the most widely used drug among type 2 diabetes mellitus patients. However, drug interaction on metformin will influence its glucose-lowering effect or increase its side effect of lactic acidosis. In this study, a randomized, two-stage, crossover study was conducted to unveil the potential drug interaction between metformin and the anti-hypertension drug, telmisartan. Read More
J Chromatogr B Analyt Technol Biomed Life Sci 2018 Dec 4;1104:249-255. Epub 2018 Dec 4.
Pharmacogenomics Laboratory, Centre Hospitalier Universitaire (CHU) de Qu├ębec, - Universit├ę Laval Research Center and Faculty of Pharmacy, Laval University, Qu├ębec city, QC, Canada; Canada Research Chair in Pharmacogenomics, Canada. Electronic address:
Abiraterone acetate (AA) is a prodrug of abiraterone, a selective and potent steroidal cytochrome P450 17alpha- hydroxylase-17,20-lyase (CYP17A1) blocking androgen synthesis in the treatment of advanced prostate cancer. Abiraterone (Abi) is metabolized to D(4)-abiraterone (D4A) directly blocking CYP17A1 and other steroidogenic enzymes and antagonizing the androgen receptor (AR). D4A is converted by 5╬▒-reductase to 3-keto-5╬▒-abiraterone (5╬▒-Abi), an AR agonist. Read More
Clin Exp Allergy 2018 Dec 8. Epub 2018 Dec 8.
Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Angioedema is a rare adverse effect of the commonly used angiotensin converting enzyme inhibitors (ACEi) and is reported to occur with a prevalence of 0.1 - 0.7%. Read More
Br J Clin Pharmacol 2018 Dec 9. Epub 2018 Dec 9.
Discipline of Pharmacology, Adelaide Medical School, University of Adelaide, Adelaide, Australia.
J Antimicrob Chemother 2018 Dec 10. Epub 2018 Dec 10.
Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa.
Background: There are limited data on the pharmacogenetics and pharmacokinetics of the CNS penetration of efavirenz.
Objectives: We investigated genetic polymorphisms associated with CSF concentrations of efavirenz and its metabolites and explored the relationships with neurocognitive performance.
Methods: We included 47 HIV-infected South African black adults with and without HIV-associated neurocognitive disorder on efavirenz/tenofovir/emtricitabine and collected paired plasma-CSF samples. Read More
Front Oncol 2018 23;8:541. Epub 2018 Nov 23.
Pediatric Oncology Department, Children Cancer Hospital Egypt and National Cancer Institute Cairo University, Cairo, Egypt.
Osteonecrosis is a significant toxicity resulting from the treatment of pediatric Acute Lymphoblastic Leukemia (ALL). This study aimed to investigate the relationship between vitamin D receptor fok1 (VDR fok1) and thymidylate synthase (TYMS) gene polymorphisms with the glucocorticoid (GC) induced osteonecrosis (ON) in Egyptian pediatric ALL patients. In addition, to identify the possible association of genetic polymorphisms with other factors such as gender and ALL subtypes. Read More
Sci Data 2018 Dec 11;5:180284. Epub 2018 Dec 11.
Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, P. R. China.
Gene-gene (GXG) and gene-environment (GXE) interactions play important roles in pharmacogenetics study. Simultaneously incorporating multiple single nucleotide polymorphisms (SNPs) and clinical factors is needed to explore the association of their interactions with drug response and toxicity phenotypes. We genotyped 504 SNPs in a total of 490 Chinese non-small cell lung cancer (NSCLC) patients, and the correlation of GXG and GXE interactions with platinum-based chemotherapeutic efficacy and safety were analyzed. Read More
J Cardiovasc Med (Hagerstown) 2019 Jan;20(1):46-48
Centre of Research in Medical Pharmacology.
Pharmacogenet Genomics 2018 Dec 6. Epub 2018 Dec 6.
Center for Personalized Therapeutics.
Introduction: In-hospital adverse medication events result in increased morbidity and mortality. Many implicated drugs carry pharmacogenomic information. We hypothesized that comprehensive pre-emptive pharmacogenomic profiling could have high relevance for in-hospital prescribing. Read More
Pharmacogenet Genomics 2018 Dec 6. Epub 2018 Dec 6.
Center for Personalized Therapeutics.
Objective: The objective of this study was to study provider attitudes of and perceived barriers to the clinical use of pharmacogenomics before and during participation in an implementation program.
Participants And Methods: From 2012 to 2017, providers were recruited. After completing semistructured interviews (SSIs) about pharmacogenomics, providers received training on and access to a clinical decision support tool housing patient-specific pharmacogenomic results. Read More
Ther Drug Monit 2018 Dec 10. Epub 2018 Dec 10.
CHU Limoges, Universit├ę de Limoges, Inserm, IPPRITT, U1248, F-87000 Limoges, France.
Conventional TDM refers to the individualization of drug dosage by maintaining plasma or blood drug concentrations within a targeted therapeutic range. Accordingly, an individualized dose is proposed to the clinician according to the drug plasma or blood concentration using an a posteriori approach. Pharmacogenetics (PGx) has recently emerged as an additional tool to refine dose selection or, more interestingly to select, a priori, the first dose to administer. Read More
Neural Regen Res 2019 Jan;14(1):75-76
Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome Tor Vergata, Rome, Italy.
J Biol Chem 2018 Dec 10. Epub 2018 Dec 10.
Laboratory of Clinical Pharmacy and Adverse Drug Reaction, China.
Sirt6 is nicotinamide adenine dinucleotide (NAD+)-dependent deacetylase with a critical role of hepatic lipid metabolism. Ketogenesis is controlled by a signaling network of hepatic lipid metabolism. However, how Sirt6 functions in ketogenesis remains unclear. Read More
Biochimie 2018 Dec 6. Epub 2018 Dec 6.
Department of Orthopedics, The 306th Hospital of PLA, Beijing, 100101, China. Electronic address:
Osteosarcoma is one of the most malignant cancer adolescents and young adults and metastatic osteosarcoma is a huge life threat with a 5-year survival lower than 20%. However, the mechanisms through which localized osteosarcoma turned metastatic are not fully understood. Here, we studied the role of miR-204-5p in osteosarcoma and found that miR-204-5p is downregulated in both osteosarcoma patients and osteosarcoma cell lines. Read More
Ther Drug Monit 2018 Dec 4. Epub 2018 Dec 4.
Department of Pharmacy, Shanghai Changhai Hospital, Second Military Medical University, Shanghai (200433), China.
Background: Kidney transplant recipients on long-term cyclosporine (CsA) therapy may develop multiple adverse drug events, and immunosuppression conversion from CsA to tacrolimus (Tac) is an option. Genetic variations, especially cytochrome P450 (CYP) 3A5*3 affects Tac dosing. However, little information is available to guide the conversion with regards to patients' pharmacogenomics. Read More
Pharmacogenet Genomics 2018 Nov 28. Epub 2018 Nov 28.
Department of Cancer Biology and Genetics, Center for Pharmacogenomics, College of Medicine, The Ohio State University, Columbus, Ohio.
Introduction: CYP2D6 metabolizes Ôł╝25% of all clinically used drugs, with numerous genetic polymorphisms affecting enzyme activity and drug response. Clinical utility of current CYP2D6 genotyping is partially compromised the unresolved complex haplotype structure of the CYP2D6 locus. We have identified a distal enhancer single-nucleotide polymorphism rs5758550 that robustly increases CYP2D6 expression, whereas rs16947 (CYP2D6*2), previously considered inert, reduces correct mRNA splicing and expression, thereby affecting presumed activity of other alleles on the *2 haplotype. Read More
Analyst 2018 Dec 6. Epub 2018 Dec 6.
Departamento de Qu├şmica, Universitat Polit├Ęcnica de Val├Ęncia, Camino de Vera s/n, E46022, Valencia, Spain. and Instituto Interuniversitario de Investigaci├│n de Reconocimiento Molecular y Desarrollo Tecnol├│gico (IDM), Universitat Polit├Ęcnica de Val├Ęncia-Universitat de Val├Ęncia, Valencia, Spain and Unidad Mixta UPV-La Fe, Nanomedicine and Sensors, IIS La Fe, Valencia, Spain.
The development of a high-performance assay readout using integrated detectors is a current challenge in the implementation of DNA tests in diagnostic laboratories, particularly for supporting pharmacogenetic tests. A method for allelic discrimination, associated with single nucleotide polymorphisms (SNPs), is presented. Genomic DNA is extracted from blood and buccal swab samples. Read More
Pharmacogenomics 2019 Jan 6;20(1):37-47. Epub 2018 Dec 6.
Department of Psychiatry & Behavioral Sciences, Emory University School of Medicine, Atlanta, GA 30322, USA.
Aim: To conducted a systematic review and meta-analysis of prospective, randomized controlled trials (RCTs) that examined pharmacogenetic-guided decision support tools (DSTs) relevant to depressive symptom remission in major depressive disorder (MDD).
Patients & Methods: Random-effects meta-analysis was performed on RCTs that examined the effect of DSTs on remission rates in MDD. RCT quality was assessed using the Cochrane Collaboration Criteria. Read More
Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.
Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Purpose: Although clopidogrel is the most widely used oral P2Y12 receptor antagonist, up to 10% of acute coronary syndrome patients treated with clopidogrel will experience a recurrent myocardial infarction and 2-3% will experience stent thrombosis within 1 year. The purpose of this research is to describe the prevalence of pharmacogene variants associated with clopidogrel responsiveness (CYP2C19, B4GALT2, ABCB1, PON1, CES1┬áand P2RY12) in Hispanic/Latino patients of diverse backgrounds.
Methods: Minor allele frequencies of nine variants from participants of Hispanic Community Health Study/Study of Latinos were compared between subpopulations as well as to continental ancestry references using z-test for independent proportions. Read More
Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.
Department of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, MI┬á48109, USA.
Aim: ┬áFirst, evaluate if patients carrying putatively diminished activity CYP2C8 genotype have longer paclitaxel exposure (e.g., time above threshold concentration of 0. Read More
Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.
Department of Pediatrics, USF Health South Tampa Center for Advanced Healthcare, Tampa, FL 33606, USA.
Clonazepam undergoes nitroreduction to 7-amino-clonazepam via CYP3A4/5, followed by acetylation to 7-acetamido-clonazepam via N-acetyltransferase-2 (NAT2) enzyme. While no pharmacological activity is attributed to the metabolites of clonazepam, 7-amino-clonazepam has some affinity for the benzodiazepine receptor as a partial agonist for the gamma aminobutyric acid-A receptor and can compete with clonazepam. Interindividual variability in the incidence of adverse events in patients may, in part, be attributable to differences in clonazepam metabolism. Read More
Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.
Unit of Clinical Pharmacology & Pharmacogenetics, Department of Clinical & Experimental Medicine, University of Pisa, Italy.
Circulating tumor DNA, circulating tumor cells and tumor-related exosomes may offer new opportunities to provide insights into the biological and clinical characteristics of a neoplastic disease. They represent alternative routes for diagnostic and prognostic purposes, and for predicting and longitudinally monitoring response to treatment and disease progression. Hence, circulating biomarkers represent promising noninvasive tools in the scenario of pancreatic cancer, where neither molecular nor clinical predictors of treatment benefit have been identified yet. Read More
Clin Pharmacol Ther 2018 Dec 5. Epub 2018 Dec 5.
1Center for Individualized Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Although pharmacogenomics (PGx) offers the promise of ensuring the right patient receives the right medication at the right dose the first time, gene-drug interaction data have yet to be seamlessly integrated into patients' health records. PGx testing that is preemptive, adaptable, current, and executable (PACE) overcomes the human and technological barriers to successful implementation, thus capitalizing on the affordable cost of such testing and clinical practice guidelines at the point of prescription ordering. Read More
Methods Mol Biol 2019 ;1888:233-254
Chemical Biology and Therapeutics Science Program, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
We recently pioneered several analyses of small-molecule sensitivity data collected from large-scale perturbation of hundreds of cancer cell lines with hundreds of small molecules, with cell viability measured as a readout of compound sensitivity. We performed these studies using cancer cell lines previously annotated with cellular, genomic, and basal gene-expression features. By combining small-molecule sensitivity data with these other datasets, we identified new candidate biomarkers of sensitivity, gained insights into small-molecule mechanisms of action, and proposed candidate hypotheses for cancer dependencies (including candidate combination therapies). Read More
J Pain Res 2018 8;11:2729-2739. Epub 2018 Nov 8.
Department of Anesthesia, Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA,
Genetic variations and gender contribute significantly to the large interpatient variations in opioid-related serious adverse effects and differences in pain relief with other analgesics. Opioids are the most commonly used analgesics to relieve moderate-to-severe postoperative pain. Narrow therapeutic index and unexplained large interpatient variations in opioid-related serious adverse effects and analgesia negatively affect optimal perioperative outcomes. Read More
Pharmacogenomics 2018 Dec 6. Epub 2018 Dec 6.
Department of Pharmaceutical Sciences, School of Pharmacy, Medical Sciences Campus, University of Puerto Rico, San Juan, PR 00936, Puerto Rico.
Warfarin continues to be the mainstay therapy for preventing thrombus formation. Although pharmacogenetic algorithms have shown higher predictability of the optimal warfarin dose and lower occurrence of bleeding episodes, they often do not include ethno-specific genetic variants relevant to non-Europeans. This case report describes a rare missense variant at exon 9 of CYP2C9 (rs202201137; c. Read More
Int J Mol Sci 2018 Dec 4;19(12). Epub 2018 Dec 4.
First Department of Obstetrics and Gynecology, The Center of Postgraduate Medical Education, 01-004 Warsaw, Poland.
Uterine fibroids (UFs) are the most common benign tumors of the female genital tract. The incidence of UFs has been estimated at 25Ôü╗80% depending on selected population. The pathophysiology of UFs remains poorly understood. Read More
Clin Pharmacol Ther 2018 Dec 2. Epub 2018 Dec 2.
General Medicine and Hypertension Unit, Department of Medicine, University of Verona, Italy.
The CYP4F2 gene is known to influence mean coumarin dose. The aim of the present study was to undertake a meta-analysis at individual patients' level to capture the possible effect of ethnicity, gene-gene interaction or other drugs on the association and to verify if inclusion of CYP4F2*3 variant into dosing algorithms improves the prediction of mean coumarin dose. We asked the authors of our previous meta-analysis (30 articles) and of 38 new articles retrieved by a systematic review to send us individual patients' data. Read More
Clin Pharmacol Ther 2018 Dec 1. Epub 2018 Dec 1.
Department of Biomedical Data Science, Stanford University, Stanford, CA, 94305, USA.
The varying frequencies of pharmacogenetic alleles between populations have important implications for the impact of these alleles in different populations. Current population grouping methods to communicate these patterns are insufficient as they are inconsistent and fail to reflect the global distribution of genetic variability. To facilitate and standardize the reporting of variability in pharmacogenetic allele frequencies, we present seven geographically-defined groups: American, Central/South Asian, East Asian, European, Near Eastern, Oceanian, and Sub-Saharan African, and two admixed groups: African American/Afro-Caribbean and Latino. Read More
Blood Cells Mol Dis 2018 Nov 16;75:1-10. Epub 2018 Nov 16.
Institut Curie, Site Saint-Cloud Hematology, Saint-Cloud, France. Electronic address:
Primary CNS lymphomas (PCNSL) are rare and poor prognosis diffuse large B-cell lymphomas. Because of the brain tumor environment and the restricted distribution of drugs in the CNS, specific PCNSL patient-derived orthotopic xenograft (PDOX) models are needed for preclinical research to improve the prognosis of PCNSL patients. PCNSL patient specimens (nÔÇ»=ÔÇ»6) were grafted in the caudate nucleus of immunodeficient nude mice with a 83% rate of success, while subcutaneous implantation in nude mice of human PCNSL sample did not generate lymphoma, supporting the role of the brain microenvironment in the PCNSL physiopathology. Read More
Drug Metab Rev 2018 Dec 2:1-27. Epub 2018 Dec 2.
b Center for Pharmacogenetics and Department of Pharmaceutical Sciences , University of Pittsburgh , Pittsburgh , PA 15261 , USA.
Nuclear receptors (NRs) belong to a family of ligand dependent transcription factors. The target genes of NRs include many drug metabolizing enzymes and transporters. The central nervous system (CNS) bears the expression of NRs, drug metabolizing enzymes and transporters. Read More
Diabetes Metab Res Rev 2018 Dec 4:e3109. Epub 2018 Dec 4.
Department of Medical and Surgical Sciences, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Type 2 diabetes mellitus (T2DM) is a chronic disease that has reached the levels of a global epidemic. In order to achieve optimal glucose control it is often necessary to rely on combination therapy of multiple drugs or insulin, because uncontrolled glucose levels result in T2DM progression and enhanced risk of complications and mortality. Several anti-hyperglycemic agents have been developed over time, and T2DM pharmacotherapy should be prescribed based on suitability for the individual patient's characteristics. Read More
Virchows Arch 2018 Dec 4. Epub 2018 Dec 4.
Department of Pathology, University of New Mexico, MSC08 4640, Reginald Heber Fitz Hall, Room 335, 1 University of New Mexico, 87131, Albuquerque, NM, Mexico.
The human leukocyte antigen (HLA) system is a highly polymorphic family of genes involved in immunity and responsible for identifying self versus non-self. HLA typing is essential for solid organ and bone marrow transplantation as well as in non-transplant settings such as disease association and pharmacogenomics. Typing of HLA genes differs from most molecular testing as, rather than evaluating differences from an accepted "wild-type" gene, it must distinguish between thousands of similar, but distinct alleles. Read More
Front Pharmacol 2018 20;9:1312. Epub 2018 Nov 20.
Institute of Life Sciences, Chongqing Medical University, Chongqing, China.
Gefitinib, an epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (EGFR-TKI), is used clinically as first-line therapy in patients with advanced non-small cell lung cancer (NSCLC) with EGFR activating mutations, but the inevitable development of acquired resistance limits its efficacy. In up to 30-40% of NSCLC cases, the mechanism underlying acquired resistance remains unknown. ATP-binding cassette (ABC) transporters are a family of membrane proteins that can significantly influence the bioavailability of numerous drugs, and have confirmed to play an essential role in multidrug resistance (MDR) in cancer chemotherapy. Read More
Clin Cancer Res 2018 Dec 4. Epub 2018 Dec 4.
Department of Medicine, Committee on Clinical Pharmacology and Pharmacogenomics, Cancer Research Center, University of Chicago
The concept of complete molecular profiling to select investigational treatment options is appealing; theoretically allowing the matching of patients to investigational drugs specifically targeted to molecular features of each patient's cancer. While some patients do benefit from such a strategy, the vast majority do not. Read More
Tuberculosis (Edinb) 2018 Dec 1;113:153-162. Epub 2018 Oct 1.
FHI 360 and Duke University, Durham, NC, USA. Electronic address:
RePORT International is a global network of research sites in India, Brazil, Indonesia, South Africa, China, and the Philippines dedicated to collaborative tuberculosis research in the context of HIV. A standardized research protocol (the Common Protocol) guides the enrollment of participants with active pulmonary tuberculosis and contacts into observational cohorts. The establishment of harmonized clinical data and bio-repositories will allow cutting-edge, large-scale advances in the understanding of tuberculosis, including identification of novel biomarkers for progression to active tuberculosis and relapse after treatment. Read More
Tumori 2018 Dec 5:300891618811283. Epub 2018 Dec 5.
1 Charles University, Faculty of Medicine in Hradec Kr├ílov├ę, University Hospital Hradec Kr├ílov├ę, Department of Oncology and Radiotherapy, Czech Republic.
Colorectal cancer, one of the most frequent types of cancer worldwide, has a high mortality rate. Irinotecan (CPT-11) has been approved for the treatment of advanced or metastatic disease either as a single agent or, more commonly, as part of combined chemotherapeutic regimens. Treatment with irinotecan is often accompanied by severe toxicity (e. Read More
Curr Ther Res Clin Exp 2019 31;90:1-7. Epub 2018 Oct 31.
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Objective: Fluoropyrimidine treatment can be optimized based on dihydropyrimidine dehydrogenase (DPD) activity. DPD dysfunction leads to increased exposure to active metabolites, which can result in severe or even fatal toxicity.
Methods: We provide an overview of 8 years of DPD diagnostic testing (nÔÇ»=ÔÇ»1194). Read More
Antimicrob Agents Chemother 2018 Dec 3. Epub 2018 Dec 3.
Department of Clinical Pharmacy, School of Pharmaceutical Sciences, Shandong University, Jinan 250014, China
Amoxicillin is widely used to treat bacterial infections in neonates. However, considerable inter-center variability in dosage regimens of antibiotic exist in clinical practice. Pharmacokinetics of amoxicillin has been described in only a few preterm neonates. Read More
Respir Med 2018 Dec 10;145:212-216. Epub 2018 Nov 10.
Department of International Health, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, USA; Division of Pulmonary and Critical Care, School of Medicine, Johns Hopkins University, Baltimore, USA; Biomedical Research Unit, A.B. PRISMA, Lima, Peru. Electronic address:
Background: Asthma prevalence continues to increase in low and middle-income countries, presenting challenges in assessing asthma control in resource-poor settings. Previous studies suggest that exhaled carbon monoxide (eCO) is higher with asthma severity and lower with treatment. We hypothesized that eCO levels may be elevated in children with asthma, particularly in children with partially controlled or uncontrolled asthma in a low-resource setting in Lima, Peru. Read More
Pain Physician 2018 Nov;21(6):E611-E621
Genomas Inc., Hartford, CT.
Background: A major challenge for effective pharmacotherapy in pain management is to provide the drug best suited to the patient's innate characteristics.
Objective: The article illustrates pharmacogenetic principles to optimize treatments for patients and increase the likelihood of pain relief without dependence. Genetic variances are particularly relevant to opioid drugs used in pain control, and can now be harvested for predictive clinical decision support. Read More
Clin Pharmacol Ther 2018 Nov 30. Epub 2018 Nov 30.
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
The identification in a patient of one of the 50 variants in the RYR1 or CACNA1S genes reviewed here should lead to a presumption of malignant hyperthermia susceptibility. Malignant hyperthermia susceptibility can lead to life-threatening reactions to potent volatile anesthetic agents or succinylcholine. We summarize evidence from the literature supporting this association and provide therapeutic recommendations for the use of these agents in patients with these RYR1 or CACNA1S variants (updates at https://cpicpgx. Read More
Front Pharmacol 2018 15;9:1309. Epub 2018 Nov 15.
Department of Hematology and Oncology, Mayo Clinic, Jacksonville, FL, United States.
Pharmacogenomic testing may have clinical value in the treatment of patients with gastrointestinal malignancies such as colorectal and pancreatic cancer. These types of cancer are often treated with combination chemotherapy regimens. These regimens can lead to severe adverse effects in patients with diminished drug tolerability potentially due to certain genetic variants in the enzymes involved in the metabolism of the chemotherapies. Read More
Singapore Med J 2018 Nov 29. Epub 2018 Nov 29.
Department of Gastroenterology and Hepatology, Changi General Hospital, Singapore.
Introduction: The objectives of this study were to examine the effects of ethnicity, gender, and a proton pump inhibitor (PPI), omeprazole, on the human gut microbiome. PPIs are commonly used for the treatment of acid-related disorders. We hypothesised that PPI therapy might perturb microbial communities and alter the gut microbiome. Read More
Front Pharmacol 2018 14;9:1296. Epub 2018 Nov 14.
School of Pharmaceutical Sciences, University of S├úo Paulo, S├úo Paulo, Brazil.
Monitoring of immunosuppressive drugs, such as calcineurin and mTOR inhibitors, is essential to avoid undesirable kidney transplant outcomes. Polymorphisms in pharmacokinetics-related genes have been associated with variability in blood levels of immunosuppressive drugs and adverse effects, but influence of pharmacodynamics-related genes remains to be elucidated. The influence of polymorphisms in genes of the mTOR and calcineurin signaling pathways on long-term clinical outcomes was investigated in Brazilian kidney transplant recipients within the 1-year post-transplant. Read More
Genes (Basel) 2018 Nov 28;9(12). Epub 2018 Nov 28.
Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
genotyping prior to fluoropyrimidine treatment is increasingly implemented in clinical care. Without phasing information (i.e. Read More
Diabetes 2018 Nov 28. Epub 2018 Nov 28.
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA
To identify genetic variants associated with diabetic retinopathy (DR), we performed a large, multiethnic genome-wide association study (GWAS). Discovery included eight European cohorts (n = 3,246) and seven African American cohorts (n = 2,611). We meta-analyzed across cohorts using inverse-variance weighting, with and without liability threshold modeling of glycemic control and duration of diabetes. Read More
BMJ 2018 Nov 28;363:k4679. Epub 2018 Nov 28.
Division of Dermatology, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital; Seattle, WA, USA