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Genetic tests for medication use

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https://www.readbyqxmd.com/read/29674966/frequency-of-cyp2d6-alleles-including-structural-variants-in-the-united-states
#1
Andria L Del Tredici, Alka Malhotra, Matthew Dedek, Frank Espin, Dan Roach, Guang-Dan Zhu, Joseph Voland, Tanya A Moreno
The CYP2D6 gene encodes an enzyme important in the metabolism of many commonly used medications. Variation in CYP2D6 is associated with inter-individual differences in medication response, and genetic testing is used to optimize medication therapy. This report describes a retrospective study of CYP2D6 allele frequencies in a large population of 104,509 de-identified patient samples across all regions of the United States (US). Thirty-seven unique CYP2D6 alleles including structural variants were identified...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29671539/evaluation-of-suspected-dementia
#2
Nathan Falk, Ariel Cole, T Jason Meredith
Dementia is a significant and costly health condition that affects 5 million adults and is the fifth leading cause of death among Americans older than 65 years. The prevalence of dementia will likely increase in the future because the number of Americans older than 65 years is expected to double by 2060. Risk factors for dementia include age; family history of dementia; personal history of cardiovascular disease, cerebrovascular disease, diabetes mellitus, or midlife obesity; use of anticholinergic medications; apolipoprotein E4 genotype; and lower education level...
March 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29671504/buprenorphine-therapy-for-opioid-use-disorder
#3
Roger Zoorob, Alicia Kowalchuk, Maria Mejia de Grubb
Opioid misuse, including the use of heroin and the overprescribing, misuse, and diversion of opioid pain medications, has reached epidemic proportions in the United States. As a result, there has been a dramatic increase in opioid use disorder and associated overdoses and deaths. Addiction is a chronic brain disease with a genetic component that affects motivation, inhibition, and cognition. Patient characteristics associated with successful buprenorphine maintenance treatment include stable or controlled medical or psychiatric comorbidities and a safe, substance-free environment...
March 1, 2018: American Family Physician
https://www.readbyqxmd.com/read/29666136/systematic-review-and-meta-analysis-of-diabetes-mellitus-cardiovascular-and-respiratory-condition-epidemiology-in-sexual-minority-women
#4
Catherine Meads, Adam Martin, Jeffrey Grierson, Justin Varney
OBJECTIVE: Sexual minority women (SMW) experience higher chronic disease risk factors than heterosexual counterparts. However, it was unclear if these risks translate into higher physical condition rates. This systematic review evaluates cardiovascular disease (CVD), hypertension, respiratory disease and diabetes mellitus in SMW. METHODS: A protocol was registered with the Prospero database (CRD42016050299). Included were studies reporting mortality, incidence or prevalence of the above-listed conditions in SMW compared with heterosexual women...
April 17, 2018: BMJ Open
https://www.readbyqxmd.com/read/29663329/prophylactic-thyroidectomy-in-children-with-multiple-endocrine-neoplasia-type-2
#5
F P Prete, T Abdel-Aziz, C Morkane, C Brain, T R Kurzawinski
BACKGROUND: In patients with multiple endocrine neoplasia type 2 (MEN2) syndrome, genetic testing offers early diagnosis, stratifies the risk of developing medullary thyroid cancer (MTC) and informs the timing of thyroidectomy. The efficacy of treatment, which depends on timely and safe surgery, is not well established. METHODS: This was a retrospective review of diagnostic and clinicopathological outcomes of prophylactic thyroidectomy in children with MEN2 between 1995 and 2013 in the UK...
April 17, 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29662016/persistent-borrelia-infection-in-patients-with-ongoing-symptoms-of-lyme-disease
#6
Marianne J Middelveen, Eva Sapi, Jennie Burke, Katherine R Filush, Agustin Franco, Melissa C Fesler, Raphael B Stricker
INTRODUCTION: Lyme disease is a tickborne illness that generates controversy among medical providers and researchers. One of the key topics of debate is the existence of persistent infection with the Lyme spirochete, Borrelia burgdorferi , in patients who have been treated with recommended doses of antibiotics yet remain symptomatic. Persistent spirochetal infection despite antibiotic therapy has recently been demonstrated in non-human primates. We present evidence of persistent Borrelia infection despite antibiotic therapy in patients with ongoing Lyme disease symptoms...
April 14, 2018: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/29659858/zaaps-programme-results-for-2016-an-activity-and-spectrum-analysis-of-linezolid-using-clinical-isolates-from-medical-centres-in-42-countries
#7
Rodrigo E Mendes, Lalitagauri Deshpande, Jennifer M Streit, Helio S Sader, Mariana Castanheira, Patricia A Hogan, Robert K Flamm
Objectives: To report the linezolid activity, resistance mechanisms and epidemiological typing of selected isolates observed during the 2016 Zyvox® Annual Appraisal of Potency and Spectrum (ZAAPS) programme. Methods: A total of 8325 organisms were consecutively collected from 76 centres in 42 countries (excluding the USA). Broth microdilution susceptibility testing was performed and isolates displaying linezolid MICs of ≥4 mg/L were molecularly characterized...
April 6, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29659106/individual-treatment-selection-for-patients-with-posttraumatic-stress-disorder
#8
Anne-Katharina Deisenhofer, Jaime Delgadillo, Julian A Rubel, Jan R Böhnke, Dirk Zimmermann, Brian Schwartz, Wolfgang Lutz
BACKGROUND: Trauma-focused cognitive behavioral therapy (Tf-CBT) and eye movement desensitization and reprocessing (EMDR) are two highly effective treatment options for posttraumatic stress disorder (PTSD). Yet, on an individual level, PTSD patients vary substantially in treatment response. The aim of the paper is to test the application of a treatment selection method based on a personalized advantage index (PAI). METHOD: The study used clinical data for patients accessing treatment for PTSD in a primary care mental health service in the north of England...
April 16, 2018: Depression and Anxiety
https://www.readbyqxmd.com/read/29656215/inter-observer-variance-and-the-need-for-standardization-in-the-morphological-classification-of-myelodysplastic-syndrome
#9
Keiko Sasada, Noriko Yamamoto, Hiroki Masuda, Yoko Tanaka, Ayako Ishihara, Yasushi Takamatsu, Yutaka Yatomi, Waichiro Katsuda, Issei Sato, Hirotaka Matsui
In this era of genome medicine, the sub-classification of myeloid neoplasms, including myelodysplastic syndrome (MDS), is now supported by genetic testing in selected cases. However, as the initial suspicion and primary diagnosis of the disease still largely relies on morphological features and numbers of hematopoietic cells, the establishment of a uniform diagnostic basis, especially for cell morphology, is essential. In this study, we collected nearly 100,000 hematopoietic cell images from 499 peripheral blood smear specimens from patients with MDS and used these to evaluate the standardization of morphological classification by medical technologists...
April 9, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29644397/coq2-variants-in-parkinson-s-disease-and-multiple-system-atrophy
#10
Michitaka Mikasa, Kazuaki Kanai, Yuanzhe Li, Hiroyo Yoshino, Kaoru Mogushi, Arisa Hayashida, Aya Ikeda, Sumihiro Kawajiri, Yasuyuki Okuma, Kenichi Kashihara, Tatsuya Sato, Hiroshi Kondo, Manabu Funayama, Kenya Nishioka, Nobutaka Hattori
Coenzyme Q2, polyprenyltransferase (COQ2) variants have been reported to be associated with multiple system atrophy (MSA). However, the relationship between COQ2 variants and familial Parkinson's disease (PD) remains unclear. We investigated the frequency of COQ2 variants and clinical symptoms among familial PD and MSA. We screened COQ2 using the Sanger method in 123 patients with familial PD, 52 patients with sporadic PD, and 39 patients with clinically diagnosed MSA. Clinical information was collected from medical records for the patients with COQ2 variants...
April 11, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29643714/combined-effect-of-acid-sensing-ion-channel-3-and-transient-receptor-potential-vanilloid-1-gene-polymorphisms-on-blood-pressure-variations-in-taiwanese
#11
Leay-Kiaw Er, Ming-Sheng Teng, Semon Wu, Lung-An Hsu, I-Shiang Tzeng, Ching-Feng Cheng, Hsin-I Chang, Hsin-Hua Chou, Yu-Lin Ko
Objectives: Both acid-sensing ion channel acid-sensing ion channel 3 (ASIC3) and transient receptor potential vanilloid 1 (TRPV1) have been proposed to be involved in the pathophysiology of hypertension. Common colocalization of ASIC3 and TRPV1 channels in the same sensory neuron has been reported. We aimed to study the combined ASIC3 and TRPV1 gene polymorphisms in the risk of hypertension. Materials and Methods: To test the statistical association between genetic polymorphisms of the ASIC3 and TRPV1 genes and blood pressure (BP) variations in Taiwanese, 551 unrelated individuals (286 men and 265 women) having routine health examinations were recruited...
January 2018: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
https://www.readbyqxmd.com/read/29624881/study-on-association-of-human-leukocyte-antigen-drb1-alleles-in-rheumatoid-arthritis-within-bangladeshi-population
#12
Maksuma Begum, Humayun Sattar, Syed A Haq, Md Nazrul Islam, Sushanta K Saha, M Masudul Hassan, Ritu Saha, Md Shahriar Kabir
INTRODUCTION: Rheumatoid arthritis (RA) is a chronic, systemic and autoimmune disease affecting 0.5-1% of the world population. Genetic and environmental factors are already established as being involved in the development of RA. Different human leukocyte antigen (HLA)-DRB1 alleles have major pathogenic effects to the development of RA. OBJECTIVE: To determine the HLA-DRB1 allelic frequency of RA in one Bangladeshi tertiary care center. METHODS: This case-control study was conducted at the Microbiology and Rheumatology Department of Bangabandhu Sheikh Mujib Medical University (BSMMU)...
April 6, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29622698/value-of-supportive-care-pharmacogenomics-in-oncology-practice
#13
REVIEW
Jai N Patel, Lauren A Wiebe, Henry M Dunnenberger, Howard L McLeod
Genomic medicine provides opportunities to personalize cancer therapy for an individual patient. Although novel targeted therapies prolong survival, most patients with cancer continue to suffer from burdensome symptoms including pain, depression, neuropathy, nausea and vomiting, and infections, which significantly impair quality of life. Suboptimal management of these symptoms can negatively affect response to cancer treatment and overall prognosis. The effect of genetic variation on drug response-otherwise known as pharmacogenomics-is well documented and directly influences an individual patient's response to antiemetics, opioids, neuromodulators, antidepressants, antifungals, and more...
April 5, 2018: Oncologist
https://www.readbyqxmd.com/read/29622552/clival-malformations-in-charge-syndrome
#14
E S Mahdi, M T Whitehead
BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome...
April 5, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29621814/a-meta-analysis-of-the-associations-between-the-atp-binding-cassette-transporter-abca1-r219k-rs2230806-polymorphism-and-the-risk-of-type-2-diabetes-in-asians
#15
Dongju Jung, Shihua Cao, Meiling Liu, Sunmin Park
Asians have relatively low insulin secretion capacity and readily develop type 2 diabetes mellitus (T2DM) when insulin resistant. For that reason, insufficient insulin secretion is critical factor for Asians at the early stage of T2DM. ATP-binding cassette transporter1 (ABCA1) is a membrane protein responsible for cholesterol efflux and its function is also important for secreting insulin in pancreatic β-cells. Given the importance of its role, different polymorphisms of ABCA1 gene might contribute differently to the development of T2DM...
April 2018: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/29619630/is-migraine-primarily-a-metaboloendocrine-disorder
#16
REVIEW
Innocenzo Rainero, Flora Govone, Annalisa Gai, Alessandro Vacca, Elisa Rubino
PURPOSE OF THE REVIEW: The goals of this review are to evaluate recent studies regarding comorbidity between migraine and different metabolic and endocrine disorders and to discuss the role of insulin resistance as a common pathogenetic mechanism of these diseases. RECENT FINDINGS: Recently, several studies showed that migraine is associated with insulin resistance, a condition in which a normal amount of insulin induces a suboptimal physiological response. All the clinical studies that used the oral glucose tolerance test to examine insulin sensitivity found that, after glucose load, there is in migraine patients a significant increase of both plasmatic insulin and glucose concentrations in comparison with controls...
April 4, 2018: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/29618007/subphenotype-meta-analysis-of-testicular-cancer-genome-wide-association-study-data-suggests-a-role-for-rbfox-family-genes-in-cryptorchidism-susceptibility
#17
Yanping Wang, Dione R Gray, Alan K Robbins, Erin L Crowgey, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Katherine Nathanson, Clare Turnbull, Zhaoming Wang, Marcella Devoto, Julia Spencer Barthold
STUDY QUESTION: Can subphenotype analysis of genome-wide association study (GWAS) data from subjects with testicular germ cell tumor (TGCT) provide insight into cryptorchidism (undescended testis, UDT) susceptibility? SUMMARY ANSWER: Suggestive intragenic GWAS signals common to UDT, TGCT case-case and TGCT case-control analyses occur in genes encoding RBFOX RNA-binding proteins (RBPs) and their neurodevelopmental targets. WHAT IS KNOWN ALREADY: UDT is a strong risk factor for TGCT, but while genetic risk factors for TGCT are well-known, genetic susceptibility to UDT is poorly understood and appears to be more complex...
March 29, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29610831/association-of-hla-a-31-01-screening-with-the-incidence-of-carbamazepine-induced-cutaneous-adverse-reactions-in-a-japanese-population
#18
Taisei Mushiroda, Yukitoshi Takahashi, Teiichi Onuma, Yoshiaki Yamamoto, Tetsumasa Kamei, Tohru Hoshida, Katsuya Takeuchi, Kotaro Otsuka, Mitsutoshi Okazaki, Masako Watanabe, Kosuke Kanemoto, Tomohiro Oshima, Atsushi Watanabe, Shiro Minami, Kayoko Saito, Hisashi Tanii, Yasushi Shimo, Minoru Hara, Shinji Saitoh, Toshihiko Kinoshita, Masaki Kato, Naoto Yamada, Naoki Akamatsu, Toshihiko Fukuchi, Shigenobu Ishida, Shingo Yasumoto, Atsushi Takahashi, Takeshi Ozeki, Takahisa Furuta, Yoshiro Saito, Nobuyuki Izumida, Yoko Kano, Tetsuo Shiohara, Michiaki Kubo
Importance: Carbamazepine, a commonly used antiepileptic drug, is one of the most common causes of cutaneous adverse drug reactions (cADRs) worldwide. The allele HLA-A*31:01 is reportedly associated with carbamazepine-induced cADRs in Japanese and European populations; however, the clinical utility of HLA-A*31:01 has not been evaluated. Objective: To assess the use of HLA-A*31:01 genetic screening to identify Japanese individuals at risk of carbamazepine-induced cADRs...
April 2, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29603523/evaluating-the-use-of-parental-reports-to-estimate-health-care-resource-utilization-in-children-with-suspected-genetic-disorders
#19
Nick Dragojlovic, Ellen Kim, Alison M Elliott, Jan M Friedman, Larry D Lynd
OBJECTIVE: A key step in evaluating the cost-effectiveness of diagnostic genome-wide sequencing (GWS) services is to measure the cost of prior and subsequent diagnosis-related health care resource utilization by patients. The majority of patients using diagnostic GWS services are children, and parental surveys are often used to complement utilization data abstracted from medical records. The objective of this study was to evaluate the validity of parental reports for children with very high levels of resource utilization...
April 2018: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/29603037/adopted-individuals-views-on-the-utility-and-value-of-expanded-carrier-screening
#20
Sara Spencer, Sarah Ewing, Kathryn Calcagno, Suzanne O'Neill
Adoptees may not have family medical history and ethnicity information. Carrier screening assesses reproductive risk. Expanded carrier screening (ECS) screens for many genetic conditions regardless of a patient's knowledge of family history and ethnicity. This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient's reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful...
March 30, 2018: Journal of Genetic Counseling
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