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Genetic tests for medication use

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https://www.readbyqxmd.com/read/29040422/pharmacogenetics-a-general-review-on-progress-to-date
#1
Ann K Daly
Background: Pharmacogenetics is not a new subject area but its relevance to drug prescribing has become clearer in recent years due to developments in gene cloning and DNA genotyping and sequencing. Sources of data: There is a very extensive published literature concerned with a variety of different genes and drugs. Areas of agreement: There is general agreement that pharmacogenetic testing is essential for the safe use of drugs such as the thiopurines and abacavir...
October 11, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/29038723/survey-of-awareness-of-diabetes-mellitus-among-the-arar-population-northern-border-region-of-saudi-arabia
#2
Aseel Menwer Alanazi, Nagah Mohamed Abo El-Fetoh, Hanan Khalid Alotaibi, Khalid Ayed Alanazi, Banan Khalid Alotaibi, Sultan Majed Alshammari, Saud Rteamy Alanazi, Meshari Dalaf Alhazmi, Yousef Talal Alshammari, Zaid Qati Alshammari
BACKGROUND: Diabetes Mellitus (DM) is one of the most widely prevalent diseases in Saudi Arabia. Health education is considered an essential component to improve knowledge and change behavior. People affected by diabetes often have inadequate knowledge about the nature of diabetes, its risk factors and associated complication. OBJECTIVES: The aim of this study was to assess the awareness of the Arar population with various aspects of diabetes mellitus. METHODS: A cross-sectional study was carried out in Arar city, the capital of the Northern Province of Kingdom of Saudi Arabia (KSA)...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/29033824/optical-coherence-tomography-evolution-in-a-case-of-x-linked-juvenile-retinoschisis-15-years-of-follow-up
#3
Irini Chatziralli, George Theodossiadis, Dimitrios Brouzas, Ioannis Emfietzoglou, Panagiotis Theodossiadis
PURPOSE: We present the evolution of X-linked juvenile retinoschisis (XLRS) in a male patient using optical coherence tomography (OCT) with a long-term follow-up time of 15 years. CASE DESCRIPTION: A 10-year-old male patient presented at the Medical Retina Department of our hospital complaining for blurred vision in both eyes. At the initial presentation in 2001, his best corrected visual acuity (BCVA) was 6/12 in both eyes on the Snellen chart. Based on clinical and OCT findings, the diagnosis of XLRS was made, and it was confirmed by genetic testing...
September 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29032069/woman-s-pre-conception-evaluation-genetic-and-fetal-risk-considerations-for-counselling-and-informed-choice
#4
REVIEW
R Douglas Wilson
OBJECTIVE: To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. OPTIONS: This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. OUTCOMES: This information may allow improved risk assessment for pre-conception counselling for individual patients and their families...
October 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#5
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B van den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA (cffDNA) screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, has lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre and post-test counseling, pre/perinatal decision making and medical risk assessment/management...
October 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29031192/growth-and-endocrine-function-in-children-with-dravet-syndrome
#6
Krista Eschbach, Sharon Scarbro, Elizabeth Juarez-Colunga, Victoria Allen, Stephanie Hsu, Kelly Knupp
PURPOSE: Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. In our clinical practice, several patients with Dravet syndrome were noted to have short stature and endocrine dysfunction. This has not been reported in the literature. Our study aim was to describe growth measurements and endocrine abnormalities in children with Dravet syndrome. METHOD: A retrospective chart review was performed at a single institution...
September 29, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28993804/familial-hypercholesterolemia-a-systematic-review-of-guidelines-on-genetic-testing-and-patient-management
#7
Giuseppe Migliara, Valentina Baccolini, Annalisa Rosso, Elvira D'Andrea, Azzurra Massimi, Paolo Villari, Corrado De Vito
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28992526/improved-efficacy-with-targeted-pharmacogenetic-guided-treatment-of-patients-with-depression-and-anxiety-a-randomized-clinical-trial-demonstrating-clinical-utility
#8
Paul Bradley, Michael Shiekh, Vishaal Mehra, Keith Vrbicky, Stacey Layle, Marilyn C Olson, Alejandra Maciel, Ali Cullors, Jorge A Garces, Andrew A Lukowiak
The objective of this study was to evaluate the effect of pharmacogenetics-guided treatment on patients diagnosed with depression and/or anxiety, in a diverse set of clinical settings, as compared to the standard of care. The trial design followed a prospective, randomized, subject- and rater-blinded approach enrolling 685 patients from clinical providers specializing in Psychiatry, Internal Medicine, Obstetrics & Gynecology, and Family Medicine. The NeuroIDgenetix(®) test uses a genetic variant panel of ten genes, along with concomitant medications, to make medication management recommendations based on gene-drug and drug-drug interactions for over 40 medications used in the treatment of depression and anxiety...
September 23, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28990639/pharmacogenomics-and-psychiatric-clinical-care
#9
Russell J Amato, Joseph Boland, Nicole Myer, Lauren Few, Daniel Dowd
Approximately one in five individuals in the United States experiences mental health issues in any given year, and these disorders are consistently among the leading causes of years lived with disability. Unfortunately, many mental illnesses are lifelong conditions that require medication and therapy to improve quality of life, yet clinical trial data show that many patients fail to achieve remission or require several pharmacological interventions prior to remission. These results indicate a need to address the variability among patients in their response to medication, in addition to developing treatment plans tailored to the individual...
October 6, 2017: Journal of Psychosocial Nursing and Mental Health Services
https://www.readbyqxmd.com/read/28987261/wilson-disease-diagnosis-treatment-and-follow-up
#10
REVIEW
Michael L Schilsky
Consideration of a diagnosis of Wilson disease is still the critical factor in testing for and establishing disease diagnosis. In association with other clinical and biochemical tests, liver biopsy results and molecular genetic testing can also be used to generate a score for diagnosing Wilson disease. Medical therapy is effective for most patients; liver transplant can rescue those with acute liver failure or those with advanced liver disease who fail to respond to or discontinue medical therapy. Treatment monitoring must be done at regular intervals and includes clinical evaluation, liver tests and blood counts, and copper metabolic parameters...
November 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28983318/breast-cancer-risk-estimation-and-personal-insurance-a-qualitative-study-presenting-perspectives-from-canadian-patients-and-decision-makers
#11
Gratien Dalpé, Ida Ngueng Feze, Shahad Salman, Yann Joly, Julie Hagan, Emmanuelle Lévesque, Véronique Dorval, Jolyane Blouin-Bougie, Nabil Amara, Michel Dorval, Jacques Simard
Genetic stratification approaches in personalized medicine may considerably improve our ability to predict breast cancer risk for women at higher risk of developing breast cancer. Notwithstanding these advantages, concerns have been raised about the use of the genetic information derived in these processes, outside of the research and medical health care settings, by third parties such as insurers. Indeed, insurance applicants are asked to consent to insurers accessing their medical information (implicitly including genetic) to verify or determine their insurability level, or eligibility to certain insurance products...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28973705/identification-and-management-of-tp53-gene-carriers-detected-through-multigene-panel-testing
#12
Tuya Pal, Jennifer Brzosowicz, Ailyn Valladares, Georgia L Wiesner, Christine Laronga
OBJECTIVES: The increasing use of multigene panel tests may reveal an unexpected pathogenic variant in the tumor protein p53 (TP53) gene among individuals who do not meet clinical criteria for Li-Fraumeni syndrome (LFS). Among a registry-based sample of individuals with a pathogenic (P) or likely pathogenic (LP) variant in TP53, we sought to characterize the original clinical context in which genetic testing was performed, the personal and family history and whether they met clinical LFS criteria, and the follow-up care following diagnosis among those in whom this information was available...
October 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28973083/use-of-exome-sequencing-for-infants-in-intensive-care-units-ascertainment-of-severe-single-gene-disorders-and-effect-on-medical-management
#13
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu, Patricia Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari J Tokita, Teresa Santiago-Sim, Hongzheng Dai, Theodore Chiang, Hadley Smith, Mahshid S Azamian, Laurie Robak, Bret L Bostwick, Christian P Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A Bacino, Neil A Hanchard, Michael F Wangler, Daryl Scott, Chester Brown, Jianhong Hu, John W Belmont, Lindsay C Burrage, Brett H Graham, Vernon Reid Sutton, William J Craigen, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Donna M Muzny, Marcus J Miller, Xia Wang, Magalie S Leduc, Rui Xiao, Pengfei Liu, Chad Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M Eng, Yaping Yang, Seema R Lalani
Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants. Design, Setting, and Participants: Clinical exome sequencing was performed for 278 unrelated infants within the first 100 days of life who were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period between December 2011 and January 2017...
October 2, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28966507/thiopurine-s-methyltransferase-polymorphisms-in-korean-dermatologic-patients
#14
Minseok Lee, Jimyung Seo, Dongsik Bang, Do Young Kim
BACKGROUND: Thiopurine S-methyltransferase (TPMT) is an important enzyme in the metabolism of thiopurines including azathioprine (AZA), 6-mercaptopurine, and 6-thioguanine. TPMT genotyping is widely used for screening of AZA-related toxicity during routine clinical practice in Korea. However, the data of TPMT genotypes and its AZA-related toxicity have not been studied in the field of dermatology. OBJECTIVE: The aim of this study was to evaluate the genetic basis of TPMT polymorphism in Korean dermatologic patients and subsequently to investigate the relationship between mutant TPMT and adverse responses to AZA treatment...
October 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28959441/clonal-diversity-and-detection-of-carbapenem-resistance-encoding-genes-among-multidrug-resistant-acinetobacter-baumannii-isolates-recovered-from-patients-and-environment-in-two-intensive-care-units-in-a-moroccan-hospital
#15
Jean Uwingabiye, Abdelhay Lemnouer, Ignasi Roca, Tarek Alouane, Mohammed Frikh, Bouchra Belefquih, Fatna Bssaibis, Adil Maleb, Yassine Benlahlou, Jalal Kassouati, Nawfal Doghmi, Abdelouahed Bait, Charki Haimeur, Lhoussain Louzi, Azeddine Ibrahimi, Jordi Vila, Mostafa Elouennass
BACKGROUND: Carbapenem-resistant Acinetobacter baumannii has recently been defined by the World Health Organization as a critical pathogen. The aim of this study was to compare clonal diversity and carbapenemase-encoding genes of A. baumannii isolates collected from colonized or infected patients and hospital environment in two intensive care units (ICUs) in Morocco. METHODS: The patient and environmental sampling was carried out in the medical and surgical ICUs of Mohammed V Military teaching hospital from March to August 2015...
2017: Antimicrobial Resistance and Infection Control
https://www.readbyqxmd.com/read/28956226/evolutionary-and-neural-computing-based-decision-support-system-for-disease-diagnosis-from-clinical-data-sets-in-medical-practice
#16
M Sudha
As a recent trend, various computational intelligence and machine learning approaches have been used for mining inferences hidden in the large clinical databases to assist the clinician in strategic decision making. In any target data the irrelevant information may be detrimental, causing confusion for the mining algorithm and degrades the prediction outcome. To address this issue, this study attempts to identify an intelligent approach to assist disease diagnostic procedure using an optimal set of attributes instead of all attributes present in the clinical data set...
September 27, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/28956000/accurate-clinical-genetic-testing-for-autoinflammatory-diseases-using-the-next-generation-sequencing-platform-miseq
#17
Manabu Nakayama, Hirotsugu Oda, Kenji Nakagawa, Takahiro Yasumi, Tomoki Kawai, Kazushi Izawa, Ryuta Nishikomori, Toshio Heike, Osamu Ohara
Autoinflammatory diseases occupy one of a group of primary immunodeficiency diseases that are generally thought to be caused by mutation of genes responsible for innate immunity, rather than by acquired immunity. Mutations related to autoinflammatory diseases occur in 12 genes. For example, low-level somatic mosaic NLRP3 mutations underlie chronic infantile neurologic, cutaneous, articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID). In current clinical practice, clinical genetic testing plays an important role in providing patients with quick, definite diagnoses...
March 2017: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28950901/compound-heterozygous-mutations-in-electron-transfer-flavoprotein-dehydrogenase-identified-in-a-young-chinese-woman-with-late-onset-glutaric-aciduria-type-ii
#18
Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu
BACKGROUND: Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clinical features of late-onset GA II vary widely and pose a great challenge for diagnosis. The aim of the current study is to characterize the clinical phenotypes and genetic basis of a late-onset GAII patient...
September 26, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28944726/paying-for-cures-how-can-we-afford-it-managed-care-pharmacy-stakeholder-perceptions-of-policy-options-to-address-affordability-of-prescription-drugs
#19
Kai Yeung, Kangho Suh, Anirban Basu, Louis P Garrison, Aasthaa Bansal, Josh J Carlson
BACKGROUND: High-priced medications with curative potential, such as the newer hepatitis C therapies, have contributed to the recent growth in pharmaceutical expenditure. Despite the obvious benefits, health care decision makers are just beginning to grapple with questions of how to value and pay for curative therapies that may feature large upfront cost, followed by health benefits that are reaped over a patient's lifespan. Alternative policy options have been proposed to promote high value and financially sustainable use of these therapies...
October 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28944234/the-nextgen-study-patient-motivation-for-participation-in-genome-sequencing-for-carrier-status
#20
Tia L Kauffman, Stephanie A Irving, Michael C Leo, Marian J Gilmore, Patricia Himes, Carmit K McMullen, Elissa Morris, Jennifer Schneider, Benjamin S Wilfond, Katrina A B Goddard
BACKGROUND: While translational genomic sequencing research is increasing, few studies have been limited to healthy individuals; most have focused on patients with a disease or a strong family history of a disorder. The limited studies that have included healthy individuals have focused on the disclosure of medically actionable secondary results, rather than carrier status, to assess reproductive risks. To address this important gap, we conducted the NextGen study, which focuses on carrier status and medically actionable secondary findings in a population of women planning a pregnancy...
September 2017: Molecular Genetics & Genomic Medicine
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