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https://www.readbyqxmd.com/read/28522734/voluntary-control-of-epileptiform-spike-wave-discharges-in-awake-rats
#1
Jeremy A Taylor, Krista M Rodgers, Florencia M Bercum, Carmen J Booth, F Edward Dudek, Daniel S Barth
Genetically inherited absence epilepsy in humans is typically characterized by brief (seconds) spontaneous seizures, which involve spike-wave discharges (SWDs) in the EEG and interruption of consciousness and ongoing behavior. Genetic (inbred) models of this disorder in rats have been used to examine mechanisms, comorbidities and anti-absence drugs. SWDs have also been proposed as models of complex partial seizures (CPSs) following traumatic brain injury (post-traumatic epilepsy; PTE). However, the ictal characteristics of these rat models, including SWDs and associated immobility, are also prevalent in healthy outbred laboratory rats...
May 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28521703/recent-advances-in-antiepileptic-herbal-medicine
#2
Stephen M Manchishi
Epilepsy is one of the most common neurological disorders worldwide, with about 80 percent of cases thought to be in developing nations where it is mostly linked to superstition. Most cases of epilepsy are idiopathic, though brain injury, brain tumor, severe systemic infection and genetic mutations have been implicated in some cases. Anti-epileptic drugs (AEDs) currently in existence are not sufficient to contain the disorder. This is not only because of their limited availability and cost, but also their adverse side effects...
May 18, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28518218/comparison-and-optimization-of-in-silico-algorithms-for-predicting-the-pathogenicity-of-sodium-channel-variants-in-epilepsy
#3
Katherine D Holland, Thomas M Bouley, Paul S Horn
OBJECTIVE: Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases...
May 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28515940/nivolumab-induced-autoimmune-diabetes-mellitus-presenting-as-diabetic-ketoacidosis-in-a-patient-with-metastatic-lung-cancer
#4
James Luke Godwin, Shuchie Jaggi, Imali Sirisena, Pankaj Sharda, Ajay D Rao, Ranee Mehra, Colleen Veloski
BACKGROUND: Advances in cancer immunotherapy have generated encouraging results in multiple malignancies refractory to standard chemotherapies. As the use of immune checkpoint inhibitors (ICI) proliferates, the incidence of autoimmune side effects associated with these agents, termed immune related adverse events (irAE), is expected to increase. The frequency of significant irAE in ICI treated patients is about 10-20% and early recognition is critical to prevent serious morbidity and even mortality...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28515818/pharmacogenomic-testing-for-psychotropic-medication-selection-a-systematic-review-of-the-assurex-genesight-psychotropic-test
#5
(no author information available yet)
BACKGROUND: A large proportion of the Ontario population lives with a diagnosed mental illness. Nearly 5% of Ontarians have major depressive disorder, and another 5% have another type of depressive disorder, bipolar disorder, schizophrenia, anxiety, or some other disorder not otherwise specified. Medications are commonly used to treat mental illness, but choosing the right medication for each patient is challenging, and more than 40% of patients discontinue their medication within 90 days because of adverse effects or lack of response...
2017: Ontario Health Technology Assessment Series
https://www.readbyqxmd.com/read/28511379/malassezia-yeast-and-cytokine-gene-polymorphism-in-atopic-dermatitis
#6
Charu Jain, Shukla Das, V G Ramachandran, Rumpa Saha, S N Bhattacharya, Sajad Dar
INTRODUCTION: Atopic Dermatitis (AD) is a recurrent chronic condition associated with microorganism and their interaction with the susceptible host. Malassezia yeast is a known commensal which is thought to provoke the recurrent episodes of symptoms in atopic dermatitis patients. Malassezia immunomodulatory properties along with defective skin barrier in such host, results in disease manifestation. Here, we studied Single Nucleotide Polymorphism (SNP) in IL10 and IFN γ genes of the host and its relation with susceptibility to Malassezia infection...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28502252/differential-analysis-of-mutations-in-the-jewish-population-and-their-implications-for-diseases
#7
Yaron Einhorn, Daphna Weissglas-Volkov, Shai Carmi, Harry Ostrer, Eitan Friedman, Noam Shomron
Sequencing large cohorts of ethnically homogeneous individuals yields genetic insights with implications for the entire population rather than a single individual. In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian)...
May 15, 2017: Genetics Research
https://www.readbyqxmd.com/read/28498350/comparison-of-direct-sequencing-real-time-pcr-high-resolution-melt-pcr-hrm-and-pcr-restriction-fragment-length-polymorphism-pcr-rflp-analysis-for-genotyping-of-common-thiopurine-intolerant-variant-alleles-nudt15-c-415c-t-and-tpmt-c-719a-g-tpmt-3c
#8
Wai-Ying Fong, Chi-Chun Ho, Wing-Tat Poon
Thiopurine intolerance and treatment-related toxicity, such as fatal myelosuppression, is related to non-function genetic variants encoding thiopurine S-methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15). Genetic testing of the common variants NUDT15:NM_018283.2:c.415C>T (Arg139Cys, dbSNP rs116855232 T allele) and TPMT: NM_000367.4:c.719A>G (TPMT*3C, dbSNP rs1142345 G allele) in East Asians including Chinese can potentially prevent treatment-related complications. Two complementary genotyping approaches, real-time PCR-high resolution melt (PCR-HRM) and PCR-restriction fragment length morphism (PCR-RFLP) analysis were evaluated using conventional PCR and Sanger sequencing genotyping as the gold standard...
May 12, 2017: Diagnostics
https://www.readbyqxmd.com/read/28490920/the-role-of-family-physicians-in-cancer-care-perspectives-of-primary-and-specialty-care-providers
#9
J Easley, B Miedema, M A O'Brien, J Carroll, D Manca, F Webster, E Grunfeld
BACKGROUND: Currently, the specific role of family physicians (fps) in the care of people with cancer is not well defined. Our goal was to explore physician perspectives and contextual factors related to the coordination of cancer care and the role of fps. METHODS: Using a constructivist grounded theory approach, we conducted telephone interviews with 58 primary and cancer specialist health care providers from across Canada. RESULTS: The participants-21 fps, 15 surgeons, 12 medical oncologists, 6 radiation oncologists, and 4 general practitioners in oncology-were asked to describe both the role that fps currently play and the role that, in their opinion, fps should play in the future care of cancer patients across the cancer continuum...
April 2017: Current Oncology
https://www.readbyqxmd.com/read/28490744/precision-radiology-predicting-longevity-using-feature-engineering-and-deep-learning-methods-in-a-radiomics-framework
#10
Luke Oakden-Rayner, Gustavo Carneiro, Taryn Bessen, Jacinto C Nascimento, Andrew P Bradley, Lyle J Palmer
Precision medicine approaches rely on obtaining precise knowledge of the true state of health of an individual patient, which results from a combination of their genetic risks and environmental exposures. This approach is currently limited by the lack of effective and efficient non-invasive medical tests to define the full range of phenotypic variation associated with individual health. Such knowledge is critical for improved early intervention, for better treatment decisions, and for ameliorating the steadily worsening epidemic of chronic disease...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28488422/benchmarking-outcomes-in-the-neonatal-intensive-care-unit-cytogenetic-and-molecular-diagnostic-rates-in-a-retrospective-cohort
#11
Faheem Malam, Taila Hartley, Meredith K Gillespie, Christine M Armour, Erika Bariciak, Gail E Graham, Sarah M Nikkel, Julie Richer, Sarah L Sawyer, Kym M Boycott, David A Dyment
Genetic disease and congenital anomalies continue to be a leading cause of neonate mortality and morbidity. A genetic diagnosis in the neonatal intensive care unit (NICU) can be a challenge given the associated genetic heterogeneity and early stage of a disease. We set out to evaluate the outcomes of Medical Genetics consultation in the NICU in terms of cytogenetic and molecular diagnostic rates and impact on management. We retrospectively reviewed 132 charts from patients admitted to the NICU who received a Medical Genetics diagnostic evaluation over a 2 year period...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28485722/how-the-discovery-of-iss-n1-led-to-the-first-medical-therapy-for-spinal-muscular-atrophy
#12
REVIEW
N N Singh, M D Howell, E J Androphy, R N Singh
Spinal muscular atrophy (SMA), a prominent genetic disease of infant mortality, is caused by low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the SMN1 gene. SMN2, a nearly identical copy of SMN1 present in humans, cannot compensate for the loss of SMN1 due to predominant skipping of exon 7 during pre-mRNA splicing. With the recent FDA approval of nusinersen (Spinraza™), the potential for correction of SMN2 exon 7 splicing as a SMA therapy has been affirmed. Nusinersen is an antisense oligonucleotide that targets intronic splicing silencer N1 (ISS-N1) discovered in 2004 at the University of Massachusetts Medical School...
May 9, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28484056/research-on-clinical-decisions-made-daily-in-family-medicine
#13
EDITORIAL
Marjorie A Bowman, Anne Victoria Neale, Dean A Seehusen
This issue presents research on the types of decisions that are required daily in family medicine. Patients often make these health decisions, and family physicians help patients with these decisions daily. Patients and their family physicians discuss when to quit screening for colon cancer, which treatment to choose for localized prostate cancer, when to test for pertussis when a cough is present, whether to take prescribed medications, how to complete more preventive services, and how to understand the "new genetics", and family physician use of telehealth...
May 2017: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/28470797/screening-for-mismatch-repair-deficiency-in-colorectal-cancer-data-from-three-academic-medical-centers
#14
Grainne M O'Kane, Éanna Ryan, Terri P McVeigh, Ben Creavin, John Mp Hyland, Diarmuid P O'Donoghue, Denise Keegan, Robert Geraghty, Delia Flannery, Carmel Nolan, Emily Donovan, Brian J Mehigan, Paul McCormick, Cian Muldoon, Michael Farrell, Conor Shields, Niall Mulligan, Michael John Kennedy, Andrew J Green, Desmond C Winter, Padraic MacMathuna, Kieran Sheahan, David J Gallagher
Reflex immunohistochemistry (rIHC) for mismatch repair (MMR) protein expression can be used as a screening tool to detect Lynch Syndrome (LS). Increasingly the mismatch repair-deficient (dMMR) phenotype has therapeutic implications. We investigated the pattern and consequence of testing for dMMR in three Irish Cancer Centres (CCs). CRC databases were analyzed from January 2005-December 2013. CC1 performs IHC upon physician request, CC2 implemented rIHC in November 2008, and CC3 has been performing rIHC since 2004...
May 3, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28459826/validation-of-standard-operating-procedures-in-a-multicenter-retrospective-study-to-identify-omics-biomarkers-for-chronic-low-back-pain
#15
Concetta Dagostino, Manuela De Gregori, Christian Gieger, Judith Manz, Ivan Gudelj, Gordan Lauc, Laura Divizia, Wei Wang, Moira Sim, Iain K Pemberton, Jane MacDougall, Frances Williams, Jan Van Zundert, Dragan Primorac, Yurii Aulchenko, Leonardo Kapural, Massimo Allegri
Chronic low back pain (CLBP) is one of the most common medical conditions, ranking as the greatest contributor to global disability and accounting for huge societal costs based on the Global Burden of Disease 2010 study. Large genetic and -omics studies provide a promising avenue for the screening, development and validation of biomarkers useful for personalized diagnosis and treatment (precision medicine). Multicentre studies are needed for such an effort, and a standardized and homogeneous approach is vital for recruitment of large numbers of participants among different centres (clinical and laboratories) to obtain robust and reproducible results...
2017: PloS One
https://www.readbyqxmd.com/read/28458892/diagnosis-and-treatment-challenges-of-parathyroid-carcinoma-in-a-27-year-old-woman-with-multiple-lung-metastases
#16
Liudmila Rozhinskaya, Ekaterina Pigarova, Ekaterina Sabanova, Elizaveta Mamedova, Iya Voronkova, Julia Krupinova, Larisa Dzeranova, Anatoly Tiulpakov, Vera Gorbunova, Nadezhda Orel, Artur Zalian, Galina Melnichenko, Ivan Dedov
SUMMARY: Parathyroid carcinoma is an extremely rare disorder with little treatment options. It could be misdiagnosed in medical centers with little experience in management of such cases. Our clinical case shows that the initial misdiagnosis of a parathyroid carcinoma in a young woman has led to the development of multiple lung metastases, thus making its treatment hardly possible. Initiation of treatment with sorafenib - a multi-kinase inhibitor approved for treatment of different types of cancer but not parathyroid carcinoma - has led to a significant decrease in the size of lung metastases and has prevented the progression of hyperparathyroidism, which is usually severe in cases of parathyroid carcinoma...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28456840/rapid-evidence-review-of-the-comparative-effectiveness-harms-and-cost-effectiveness-of-pharmacogenomics-guided-antidepressant-treatment-versus-usual-care-for-major-depressive-disorder
#17
REVIEW
Kimberly Peterson, Eric Dieperink, Johanna Anderson, Erin Boundy, Lauren Ferguson, Mark Helfand
OBJECTIVE: This study aims to conduct an evidence review of the effectiveness, harms, and cost-effectiveness of pharmacogenomics-guided antidepressant treatment for major depressive disorder. METHODS: We searched MEDLINE®, the Cochrane Central Registry of Controlled Trials, and PsycINFO through February 2017. We used prespecified criteria to select studies, abstract data, and rate internal validity and strength of the evidence (PROSPERO number CRD42016036358). RESULTS: We included two randomized trials (RCT), five controlled cohort studies, and six modeling studies of mostly women in their mid-40s with few comorbidities...
April 29, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/28455364/role-of-advanced-neuroimaging-fluid-biomarkers-and-genetic-testing-in-the-assessment-of-sport-related-concussion-a-systematic-review
#18
REVIEW
Michael McCrea, Timothy Meier, Daniel Huber, Alain Ptito, Erin Bigler, Chantel T Debert, Geoff Manley, David Menon, Jen-Kai Chen, Rachel Wall, Kathryn J Schneider, Thomas McAllister
OBJECTIVE: To conduct a systematic review of published literature on advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion (SRC). DATA SOURCES: Computerised searches of Medline, PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO, Scopus and Cochrane Library from 1 January 2000 to 31 December 2016 were done. There were 3222 articles identified. STUDY SELECTION: In addition to medical subject heading terms, a study was included if (1) published in English, (2) represented original research, (3) involved human research, (4) pertained to SRC and (5) involved data from neuroimaging, fluid biomarkers or genetic testing collected within 6 months of injury...
April 28, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28449774/utility-of-post-mortem-genetic-testing-in-cases-of-sudden-arrhythmic-death-syndrome
#19
Najim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, Efstathios Papatheodorou, James S Ware, Michael Papadakis, Rafik Tadros, Della Cole, Jonathan R Skinner, Jackie Crawford, Donald R Love, Chee J Pua, Bee Y Soh, Jaydutt D Bhalshankar, Risha Govind, Jacob Tfelt-Hansen, Bo G Winkel, Christian van der Werf, Yanushi D Wijeyeratne, Greg Mellor, Jan Till, Marta C Cohen, Maria Tome-Esteban, Sanjay Sharma, Arthur A M Wilde, Stuart A Cook, Connie R Bezzina, Mary N Sheppard, Elijah R Behr
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes...
May 2, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28449382/current-use-of-chromosomal-microarray-by-australian-paediatricians-and-implications-for-the-implementation-of-next-generation-sequencing
#20
Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin
AIM: Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA. METHODS: Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings...
April 27, 2017: Journal of Paediatrics and Child Health
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