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Pharmacogenetic

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https://www.readbyqxmd.com/read/28647110/success-of-tardive-electroconvulsive-therapy-sessions-after-loxapine-induced-malignant-syndrome-in-the-context-of-very-poor-metabolisation
#1
Juliette Descoeur, Laurent Philibert, Kevin Chalard, Jérôme Attal, Pierre Petit, Kada Klouche, Mathieu Olivier
We report the success of tardive electroconvulsive therapy in a case of loxapine malignant syndrome with catatonia. Loxapine and its metabolites were measured in biological samples by liquid chromatography coupled to tandem mass spectrometry. Genes were studied by sequencing and quantitative polymerase chain reaction (PCR). Plasmatic drug concentrations showed a supratherapeutic concentration of loxapine with a very low 8-hydroxyloxapine/loxapine ratio (range from 0.32 to 0.66, normal value>2 for 100mg) and a very long elimination half-life of loxapine (half-life>140h, normal value from 1 to 4hours)...
May 29, 2017: Thérapie
https://www.readbyqxmd.com/read/28646581/a-systematic-review-of-pharmacogenetic-studies-on-the-response-to-biologics-in-psoriasis-patients
#2
REVIEW
L J van Vugt, J M P A van den Reek, M J H Coenen, E M G J de Jong
Biologics are indicated for treating moderate to severe psoriasis. As the number of biologics registered for psoriasis increases, so does the need for biomarkers to guide personalized therapeutic decisions. Genetic variants might serve as predictors for treatment response, a field of research known as pharmacogenetics. The aim of this systematic review was to assess which genetic variants are associated with the response to biologics in psoriasis patients. A systematic search was performed in EMBASE, MEDLINE, the Cochrane Library and Web of Science...
June 24, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28644183/more-dose-dependent-side-effects-with-mercaptopurine-over-azathioprine-in-ibd-treatment-due-to-relatively-higher-dosing
#3
Mark M T J Broekman, Marieke J H Coenen, Corine J van Marrewijk, Geert J A Wanten, Dennis R Wong, Andre L M Verbeek, Olaf H Klungel, Piet M Hooymans, Henk-Jan Guchelaar, Hans Scheffer, Luc J J Derijks, Dirk J de Jong
BACKGROUND: There are substantial global differences in the preference for mercaptopurine (MP) or its prodrug azathioprine (AZA) as first-choice thiopurine to treat inflammatory bowel diseases. Studies comparing both agents are scarce. Our aim was to compare AZA and MP in thiopurine-naive patients with inflammatory bowel disease for the frequency of side effects and efficacy. METHODS: Post hoc analysis of the "Thiopurine response Optimization by Pharmacogenetic testing in Inflammatory bowel disease Clinics" (TOPIC) trial, in which thiopurine-naive patients with inflammatory bowel disease with an indication for a thiopurine were randomized for a genotype-based dose versus standard of care...
June 20, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28643023/variable-aromatase-inhibitor-plasma-concentrations-do-not-correlate-with-circulating-estrogen-concentrations-in-post-menopausal-breast-cancer-patients
#4
Daniel L Hertz, Kelly A Speth, Kelley M Kidwell, Christina L Gersch, Zeruesenay Desta, Anna Maria Storniolo, Vered Stearns, Todd C Skaar, Daniel F Hayes, N Lynn Henry, James M Rae
PURPOSE: The aromatase inhibitors (AI) exemestane (EXE), letrozole (LET), and anastrozole suppress estrogen biosynthesis, and are effective treatments for estrogen receptor (ER)-positive breast cancer. Prior work suggests that anastrozole blood concentrations are associated with the magnitude of estrogen suppression. The objective of this study was to determine whether the magnitude of estrogen suppression, as determined by plasma estradiol (E2) concentrations, in EXE or LET treated patients is associated with plasma AI concentrations...
June 22, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28642284/excitation-of-gabaergic-neurons-in-the-bed-nucleus-of-the-stria-terminalis-triggers-immediate-transition-from-non-rapid-eye-movement-sleep-to-wakefulness-in-mice
#5
Shota Kodani, Shingo Soya, Takeshi Sakurai
Emotionally salient situations usually trigger arousal along with autonomic and neuroendocrine reactions. To examine whether the extended amygdala plays a role in sleep/wakefulness regulation, we examined the effects of optogenetic and pharmacogenetic excitation of GABAergic neurons in the bed nucleus of the stria terminalis (GABA(BNST) neurons). Acute optogenetic excitation of these cells during non-rapid eye movement (NREM) sleep resulted in immediate state transition to wakefulness, while stimulation during rapid eye movement (REM) sleep showed no effect on sleep/wakefulness states in male mice...
June 22, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28642081/tetrahydrocannabinol-thc-impairs-encoding-but-not-retrieval-of-verbal-information
#6
Mohini Ranganathan, Rajiv Radhakrishnan, Peter H Addy, Ashley Schnakenberg, Ashley Williams, Michelle Carbuto, Jacqueline Elander, Brian Pittman, R Andrew Sewell, Patrick D Skosnik, Deepak Cyril D'Souza
INTRODUCTION: Cannabis and agonists of the brain cannabinoid receptor (CB1R) produce acute memory impairments in humans. However, the extent to which cannabinoids impair encoding and retrieval in humans has not been established. The objective of this analysis was to determine whether the administration of Δ(9)-Tetrahydrocannabinol (THC), the principal psychoactive constituent of cannabis, impairs encoding and/or retrieval of verbal information. MATERIALS AND METHODS: Healthy subjects were recruited from the community...
June 19, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28641556/pharmacogenetic-and-pharmacokinetic-dose-individualization-of-the-taxane-chemotherapeutic-drugs-paclitaxel-and-docetaxel
#7
Natália Bordin Andriguetti, Suziane Raymundo, Marina Venzon Antunes, Magda Susana Perasolo, Simone Gasparin Verza, Edna Sayuri Suyenaga, Rafael Linden
The taxane drugs paclitaxel and docetaxel, widely used on cancer chemotherapy, are currently dosed mainly based on body-surface area. This approach is associated with wide interindividual variability in drug exposure, leading to suboptimal dosing for many patients. We reviewed the available evidence supporting dose individualization strategies for paclitaxel and docetaxel, focusing mainly on the application of therapeutic drug monitoring by a priori pharmacogenetic data or a posteriori drug measurements in biological fluids...
June 22, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28640078/prospective-observational-pharmacogenetic-study-of-side-effects-induced-by-intravenous-morphine-for-postoperative-analgesia
#8
Li-Kuei Chen, Mao-Hsien Wang, Hong-Jyh Yang, Shou-Zen Fan, Shiou-Sheng Chen
Nausea and vomiting are probably the most unpleasant side effects that occur when morphine used. A number of studies have investigated the effect on pain relief of single nucleotide polymorphisms (SNPs) in genes involved in morphine's metabolism, distribution, binding, and cellular action. The mechanism through which morphine causes nausea and vomiting has not been elucidated clearly. We examined all the reported SNPs which are associated with the complications of morphine, including SNPs in genes for phase I and phase II metabolic enzymes, ABC binding cassette drug transporters, κ and δ opioid receptors, and ion channels implicated in the postreceptor action of morphine...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639505/rationale-and-design-of-the-multiethnic-pharmacogenomics-in-childhood-asthma-consortium
#9
Niloufar Farzan, Susanne J Vijverberg, Anand K Andiappan, Lambang Arianto, Vojko Berce, Natalia Blanca-López, Hans Bisgaard, Klaus Bønnelykke, Esteban G Burchard, Paloma Campo, Glorisa Canino, Bruce Carleton, Juan C Celedón, Fook Tim Chew, Wen Chin Chiang, Michelle M Cloutier, Denis Daley, Herman T Den Dekker, Nicole F Dijk, Liesbeth Duijts, Carlos Flores, Erick Forno, Daniel B Hawcutt, Natalia Hernandez-Pacheco, Johan C de Jongste, Michael Kabesch, Gerard H Koppelman, Vangelis G Manolopoulos, Erik Melén, Somnath Mukhopadhyay, Sara Nilsson, Colin N Palmer, Maria Pino-Yanes, Munir Pirmohamed, Uros Potočnki, Jan A Raaijmakers, Katja Repnik, Maximilian Schieck, Yang Yie Sio, Rosalind L Smyth, Csaba Szalai, Kelan G Tantisira, Steve Turner, Marc P van der Schee, Katia M Verhamme, Anke H Maitland-van der Zee
AIM: International collaboration is needed to enable large-scale pharmacogenomics studies in childhood asthma. Here, we describe the design of the Pharmacogenomics in Childhood Asthma (PiCA) consortium. MATERIALS & METHODS: Investigators of each study participating in PiCA provided data on the study characteristics by answering an online questionnaire. RESULTS: A total of 21 studies, including 14,227 children/young persons (58% male), from 12 different countries are currently enrolled in the PiCA consortium...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639501/from-pharmacogenetics-to-imaging-pharmacogenetics-elucidating-mechanisms-of-antidepressant-response
#10
Eva J Brandl, Henrik Walter
No abstract text is available yet for this article.
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28639488/prenatal-exposure-to-serotonin-reuptake-inhibitors-and-congenital-heart-anomalies-an-exploratory-pharmacogenetics-study
#11
Aizati N A Daud, Jorieke E H Bergman, Wilhelmina S Kerstjens-Frederikse, Pieter van der Vlies, Eelko Hak, Rolf M F Berger, Henk Groen, Bob Wilffert
AIM: To explore the role of pharmacogenetics in determining the risk of congenital heart anomalies (CHA) with prenatal use of serotonin reuptake inhibitors. METHODS: We included 33 case-mother dyads and 2 mother-only (child deceased) cases of CHA in a case-only study. Ten genes important in determining fetal exposure to serotonin reuptake inhibitors were examined: CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, SLC6A4, HTR1A, HTR1B, HTR2A and HTR3B. RESULTS: Among the exposed cases, polymorphisms that tended to be associated with an increased risk of CHA were SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 and rs6298 and HTR3B rs1176744, but none reached statistical significance due to our limited sample sizes...
June 22, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28637770/analgesia-and-opioids-a-pharmacogenetics-shortlist-for-implementation-in-clinical-practice
#12
REVIEW
Maja Matic, Saskia N de Wildt, Dick Tibboel, Ron H N van Schaik
BACKGROUND: The use of opioids to alleviate pain is complicated by the risk of severe adverse events and the large variability in dose requirements. Pharmacogenetics (PGx) could possibly be used to tailor pain medication based on an individual's genetic background. Many potential genetic markers have been described, and the importance of genetic predisposition in opioid efficacy and toxicity has been demonstrated in knockout mouse models and human twin studies. Such predictors are especially of value for neonates and young children, in whom the assessment of efficacy or side effects is complicated by the inability of the patient to communicate this properly...
June 21, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28637741/the-closed-trial-clonidine-compared-with-midazolam-for-sedation-of-paediatric-patients-in-the-intensive-care-unit-study-protocol-for-a-multicentre-randomised-controlled-trial
#13
Antje Neubert, Manuel Alberto Baarslag, Monique van Dijk, Joost van Rosmalen, Joseph F Standing, Yucheng Sheng, Wolfgang Rascher, Deborah Roberts, Jackie Winslade, Louise Rawcliffe, Sara M Hanning, Tuuli Metsvaht, Viviana Giannuzzi, Peter Larsson, Pavla Pokorná, Alessandra Simonetti, Dick Tibboel
INTRODUCTION: Sedation is an essential part of paediatric critical care. Midazolam, often in combination with opioids, is the current gold standard drug. However, as it is a far-from-ideal agent, clonidine is increasingly being used in children. This drug is prescribed off-label for this indication, as many drugs in paediatrics are. Therefore, the CLOSED trial aims to provide data on the pharmacokinetics, safety and efficacy of clonidine for the sedation of mechanically ventilated patients in order to obtain a paediatric-use marketing authorisation...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28633577/psychotropic-pharmacogenetics-distraction-or-destiny
#14
Ajeet B Singh, Bernhard T Baune, Amber Hamilton, Pritha Das, Tim Outhred, Grace Morris, Darryl Bassett, Michael Berk, Philip Boyce, Bill Lyndon, Roger Mulder, Gordon Parker, Gin S Malhi
No abstract text is available yet for this article.
July 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/28631723/pharmacogenetic-biomarkers-of-response-in-crohn-s-disease
#15
REVIEW
T M Linares-Pineda, M Cañadas-Garre, A Sánchez-Pozo, M Á Calleja-Hernández
Crohn's disease (CD) is a chronic condition, which affects the immune system. It can also affect any part of the digestive tract and be associated with external manifestations. The causes of the disease remain unknown, although it seems to be the result of a combination of factors, such as genetic predisposition, environment, lifestyle and the composition of the microbiota, among others. The treatment protocol begins with a change in eating and smoking habits, and is continued with different lines of treatment, including corticosteroids, immunomodulators and biologic therapy (infliximab and adalimumab), which have shown differences in response among patients, especially with biologic treatment...
June 20, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28629541/stress-and-loss-of-adult-neurogenesis-differentially-reduce-hippocampal-volume
#16
Timothy J Schoenfeld, Hayley C McCausland, H Douglas Morris, Varun Padmanaban, Heather A Cameron
BACKGROUND: Hippocampal volume loss is a hallmark of clinical depression. Chronic stress produces volume loss in the hippocampus in humans and atrophy of CA3 pyramidal cells and suppression of adult neurogenesis in rodents. METHODS: To investigate the relationship between decreased adult neurogenesis and stress-induced changes in hippocampal structure and volume, we compared the effects of chronic unpredictable restraint stress and inhibition of neurogenesis in a rat pharmacogenetic model...
May 22, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28629370/pharmacogenetic-testing-through-the-direct-to-consumer-genetic-testing-company-23andme
#17
Mengfei Lu, Cathryn M Lewis, Matthew Traylor
BACKGROUND: Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of healthcare professionals. Here, we evaluate the clinical relevance of pharmacogenetic tests reported by 23andMe in their UK tests. METHODS: The research papers listed under each 23andMe report were evaluated, extracting information on effect size, sample size and ethnicity...
June 19, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28625302/pharmacogenetics-in-obstetric-anesthesia
#18
REVIEW
Ruth Landau, Richard Smiley
The 21st century has been billed as the era of "precision/personalized medicine." Genetic investigation of clinical syndromes may guide therapy as well as reveal previously unknown biological or pharmacological pathways that may result in novel drug therapies. Several clinical issues in obstetrics and obstetric anesthesiology have been targets for genetic investigations. These include evaluation of the genetic effects on preterm labor and the progression of labor, spinal anesthesia-induced hypotension and the response to medications used to treat hypotension, and the effect of gene variants on pain and analgesic responses...
March 2017: Best Practice & Research. Clinical Anaesthesiology
https://www.readbyqxmd.com/read/28620445/unusual-gastrointestinal-and-cutaneous-toxicities-by-bleomycin-etoposide-and-cisplatin-a-case-report-with-pharmacogenetic-analysis-to-personalize-treatment
#19
Marzia Del Re, Tiziana Latiano, Leonardo Fidilio, Giuliana Restante, Franco Morelli, Evaristo Maiello, Romano Danesi
The standard treatment of testicular germ cell tumors is based on the combination of bleomycin, etoposide, and cisplatin (PEB). However, this treatment may be associated with severe adverse reactions, such as hematological and non-hematological toxicities. Here, we report a case of a patient suffering from severe PEB-related toxicities, to whom pharmacogenetic analyses were performed, comprising a panel of genes involved in PEB metabolism. The analysis revealed the presence of a complex pattern of polymorphisms in GSTP1, UGT1A1 (TA)6/7, UGT1A7, and ABCB1...
March 2017: EPMA Journal
https://www.readbyqxmd.com/read/28620303/effect-of-genetic-variability-in-the-cyp4f2-cyp4f11-and-cyp4f12-genes-on-liver-mrna-levels-and-warfarin-response
#20
J E Zhang, Kathrin Klein, Andrea L Jorgensen, Ben Francis, Ana Alfirevic, Stephane Bourgeois, Panagiotis Deloukas, Ulrich M Zanger, Munir Pirmohamed
Genetic polymorphisms in the gene encoding cytochrome P450 (CYP) 4F2, a vitamin K oxidase, affect stable warfarin dose requirements and time to therapeutic INR. CYP4F2 is part of the CYP4F gene cluster, which is highly polymorphic and exhibits a high degree of linkage disequilibrium, making it difficult to define causal variants. Our objective was to examine the effect of genetic variability in the CYP4F gene cluster on expression of the individual CYP4F genes and warfarin response. mRNA levels of the CYP4F gene cluster were quantified in human liver samples (n = 149) obtained from a well-characterized liver bank and fine mapping of the CYP4F gene cluster encompassing CYP4F2, CYP4F11, and CYP4F12 was performed...
2017: Frontiers in Pharmacology
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