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https://www.readbyqxmd.com/read/28524730/recent-advances-in-genetic-testing-for-familial-hypercholesterolemia
#1
Michael A Iacocca, Robert A Hegele
Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. Areas covered: Recent advances have been propelled by an improved understanding of the genetic determinants of FH together with substantially reduced costs of appropriate screening strategies...
May 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28522405/challenges-and-opportunities-for-the-development-of-new-antipsychotic-drugs
#2
REVIEW
Carlos Forray, Raimund Buller
In spite of the significant impact that the serendipitous discovery of drugs with antipsychotic properties had on the care of patients with psychotic disorders, there are significant challenges when aiming at therapeutic goals such as remission, recovery, improved health-related quality of life and functioning. The efficacy and effectiveness of existing antipsychotic drugs fail to address the full spectrum of symptoms and functional deficits that currently prevent patients with psychotic disorders from achieving fulfilling lives...
May 15, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28521703/recent-advances-in-antiepileptic-herbal-medicine
#3
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/28514897/biomaterials-and-bioactive-agents-in-spinal-fusion
#4
Rui M Duarte, Pedro Varanda, Rui L Reis, Ana Rita C Duarte, Jorge Correia-Pinto
Management of degenerative spine pathologies frequently leads to the need for spinal fusion, where bone growth is induced towards stabilization of the interventioned spine. Autologous bone graft (ABG) remains the gold standard inducer, while new bone graft substitutes attempt to achieve effective de novo bone formation and solid fusion. Limited fusion outcomes have driven motivation for more sophisticated and multidisciplinary solutions, involving new biomaterials and/or biologics, through innovative delivery platforms...
May 17, 2017: Tissue Engineering. Part B, Reviews
https://www.readbyqxmd.com/read/28514634/convergent-reversion-to-single-mating-in-a-wasp-social-parasite
#5
Kevin J Loope, Federico Lopez-Osorio, Libor Dvořák
While eusociality arose in species with single-mating females, multiple mating by queens has evolved repeatedly across the social ants, bees, and wasps. Understanding the benefits and costs of multiple mating of queens is important because polyandry results in reduced relatedness between siblings, reducing kin-selected benefits of helping while also selecting for secondary social traits that reduce intracolony conflict. The leading hypothesis for the benefits of polyandry in social insects emphasizes advantages of a genetically diverse workforce...
June 2017: American Naturalist
https://www.readbyqxmd.com/read/28502728/technical-validation-of-a-next-generation-sequencing-assay-for-detecting-clinically-relevant-levels-of-breast-cancer-related-single-nucleotide-variants-and-copy-number-variants-using-simulated-cell-free-dna
#6
Xin Yang, Yuxing Chu, Rui Zhang, Yanxi Han, Lucheng Zhang, Yu Fu, Dan Li, Rongxue Peng, Dongdong Li, Jiansheng Ding, Ziyang Li, Meiru Zhao, Kuo Zhang, Tian Lu, Lang Yi, Qisheng Wu, Guigao Lin, Jiehong Xie, Tao Liu, Ling Yang, Xin Yi, Jinming Li
Next-generation sequencing (NGS) is commonly used in a clinical setting for diagnostic and prognostic testing of genetic mutations to select optimal targeted therapies. Herein, we describe the development of a custom NGS assay for detecting single-nucleotide variants (SNVs) and copy number variations (CNVs) in a panel of 51 genes related to breast cancer. We designed and implemented a validation strategy in accordance with principles and guidelines developed by the Next-Generation Sequencing: Standardization of Clinical Testing work group using artificial, cell-free DNA (cfDNA) with mutant fragments prepared in a simple, rapid, and cost-effective manner...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502495/detection-of-common-sequence-variations-of-familial-hypercholesterolemia-in-taiwan-using-dna-mass-spectrometry
#7
Kuan-Rau Chiou, Min-Ji Charng
BACKGROUND: Familial hypercholesterolemia (FH) is a heterogeneous autosomal dominant disease. The genetic heterogeneity of FH requires low-cost, high-throughput, and rapid mutation detection technology to efficiently integrate genetic screening into clinical practice. OBJECTIVES: The aims of the study were to customize the MassARRAY assay to (1) establish an FH mutation assay panel, comprising known point mutations located on FH-causing genes and (2) test the feasibility of the assay for screening FH patients residing in Taiwan who fit the clinical criteria of FH diagnosis...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28501546/diagnosis-of-primary-ciliary-dyskinesia-when-and-how
#8
J-J Braun, N Boehm, C Metz-Favre, I Koscinski, M Teletin, C Debry
INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities. METHODS: A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice. RESULTS: Chronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD...
May 10, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
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
#9
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/28492533/gene-patents-still-alive-and-kicking-their-impact-on-provision-of-genetic-testing-for-long-qt-syndrome-in-the-canadian-public-health-care-system
#10
Sarah E Ali-Khan, E Richard Gold
PurposeAlthough the Supreme Court of the United States limited their availability in Association for Molecular Pathology v. Myriad Genetics, gene patents remain important around the world. We examine the situation in Canada, where gene patents continue to exist, in light of recent litigation relating to familial long QT syndrome (LQTS).MethodsWe conducted in-depth semistructured interviews with 25 stakeholders across five Canadian provinces and supplemented this with a case analysis of the litigation.ResultsThe majority of LQTS testing was carried out outside Canada...
May 11, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28491285/midlife-interventions-are-critical-in-prevention-delay-or-improvement-of-alzheimer-s-disease-and-vascular-cognitive-impairment-and-dementia
#11
Sam Gandy, Tamas Bartfai, Graham V Lees, Mary Sano
The basic strategy for focusing exclusively on genetically identified targets for intervening in late life dementias was formulated 30 years ago.  Three decades and billions of dollars later, all efforts at disease-modifying interventions have failed.  Over that same period, evidence has accrued pointing to dementias as late-life clinical phenotypes that begin as midlife pathologies.  Effective prevention therefore may need to begin in midlife, in order to succeed. No current interventions are sufficiently safe to justify their use in midlife dementia prevention trials...
2017: F1000Research
https://www.readbyqxmd.com/read/28490289/combating-mutations-in-genetic-disease-and-drug-resistance-understanding-molecular-mechanisms-to-guide-drug-design
#12
Amanda T S Albanaz, Carlos H M Rodrigues, Douglas E V Pires, David B Ascher
Mutations introduce diversity into genomes, leading to selective changes and driving evolution. These changes have contributed to the emergence of many of the current major health concerns of the 21st century, from the development of genetic diseases and cancers to the rise and spread of drug resistance. The experimental systematic testing of all mutations in a system of interest is impractical and not cost-effective, which has created interest in the development of computational tools to understand the molecular consequences of mutations to aid and guide rational experimentation...
June 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28483999/hybridizing-transgenic-bt-cotton-with-non-bt-cotton-counters-resistance-in-pink-bollworm
#13
Peng Wan, Dong Xu, Shengbo Cong, Yuying Jiang, Yunxin Huang, Jintao Wang, Huaiheng Wu, Ling Wang, Kongming Wu, Yves Carrière, Andrea Mathias, Xianchun Li, Bruce E Tabashnik
Extensive cultivation of crops genetically engineered to produce insecticidal proteins from the bacterium Bacillus thuringiensis (Bt) has suppressed some major pests, reduced insecticide sprays, enhanced pest control by natural enemies, and increased grower profits. However, these benefits are being eroded by evolution of resistance in pests. We report a strategy for combating resistance by crossing transgenic Bt plants with conventional non-Bt plants and then crossing the resulting first-generation (F1) hybrid progeny and sowing the second-generation (F2) seeds...
May 8, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28476236/genetics-of-lipodystrophy
#14
REVIEW
Marissa Lightbourne, Rebecca J Brown
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs. Genetic discoveries have been particularly helpful in understanding the pathophysiology of these diseases, and have shown that mutations affect pathways involved in adipocyte differentiation and survival, lipid droplet formation, and lipid synthesis...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28471861/somatic-testing-on-gynecological-cancers-improve-the-identification-of-lynch-syndrome
#15
Ileana Carnevali, Laura Libera, Annamaria Chiaravalli, Nora Sahnane, Daniela Furlan, Alessandra Viel, Giulia Cini, Laura Cimetti, Thomas Rossi, Giorgio Formenti, Fabio Ghezzi, Cristina Riva, Fausto Sessa, Maria Grazia Tibiletti
OBJECTIVE: Recent data from the literature indicate gynecological cancers (GCs) as sentinel cancers for a diagnosis of Lynch syndrome (LS). Clinical approaches to identifying LS have low sensitivity, whereas somatic tests on GCs may be a more sensitive and cost-effective strategy. METHODS: A series of 78 GCs belonging to 74 patients sent to the Genetic Counselling Service were investigated using microsatellite instability, immunohistochemical expression of mismatch repair (MMR) genes, and MLH1 promoter methylation...
May 2, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28471434/a-microcosting-and-cost-consequence-analysis-of-clinical-genomic-testing-strategies-in-autism-spectrum-disorder
#16
Kate Tsiplova, Richard M Zur, Christian R Marshall, Dimitri J Stavropoulos, Sergio L Pereira, Daniele Merico, Edwin J Young, Wilson W L Sung, Stephen W Scherer, Wendy J Ungar
PurposeWhole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but there have been no comprehensive cost analyses. The objective was to perform such an assessment of CMA, WES, and WGS and compare the incremental cost per additional positive finding in hypothetical testing scenarios.MethodsFive-year patient and program costs were estimated from an institutional perspective. WES and WGS estimates were based on HiSeq 2500 with an additional WGS estimate for HiSeq X platforms...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28470357/auditing-the-frequency-and-the-clinical-and-economic-impact-of-testing-for-fabry-disease-in-patients-under-the-age-of-70-with-a-stroke-admitted-to-saint-vincent-s-university-hospital-over-a-6-month-period
#17
J Lambe, I Noone, R Lonergan, N Tubridy
BACKGROUND: Fabry disease is an X-linked recessive lysosomal storage disorder that provokes multi-organ morbidity, including early-onset stroke. Worldwide prevalence may be greater than previously estimated, with many experiencing first stroke prior to diagnosis of Fabry disease. AIMS: The aim of this study is to screen a cohort of stroke patients under 70 years of age, evaluating the clinical and economic efficacy of such a broad screening programme for Fabry disease...
May 3, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28467816/prediction-of-the-aquatic-toxicity-of-aromatic-compounds-to-tetrahymena-pyriformis-through-support-vector-regression
#18
Qiang Su, Wencong Lu, Dongshu Du, Fuxue Chen, Bing Niu, Kuo-Chen Chou
Toxicity evaluation is an extremely important process during drug development. It is usually initiated by experiments on animals, which is time-consuming and costly. To speed up such a process, a quantitative structure-activity relationship (QSAR) study was performed to develop a computational model for correlating the structures of 581 aromatic compounds with their aquatic toxicity to tetrahymena pyriformis. A set of 68 molecular descriptors derived solely from the structures of the aromatic compounds were calculated based on Gaussian 03, HyperChem 7...
April 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28466953/-abomasal-displacement-in-cattle-short-overview-of-recent-research-results
#19
Marlene Sickinger
Understanding abomasal displacement in cattle has been the objective of numerous in-vitro and in-vivo studies. However, a complete elucidation of its pathogenesis has still to be achieved. Nevertheless, a gene test has been developed to diagnose an existing genetic predisposition of individual animals, relying on genomic analyses. An influence of breeding on the incidence of abomasal displacement has become possible, at least within the German Holstein breed, although the test costs remain considerable. According to several studies, distinct laboratory parameters in combination with clinical findings offer the possibility to objectively estimate the (postoperative) prognosis for an individual animal suffering from abomasal displacement...
May 3, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28464090/genetic-variance-and-covariance-and-breed-differences-for-feed-intake-and-average-daily-gain-to-improve-feed-efficiency-in-growing-cattle
#20
K J Retallick, J M Bormann, R L Weaber, M D MacNeil, H L Bradford, H C Freetly, K E Hales, D W Moser, W M Snelling, R M Thallman, L A Kuehn
Feed costs are a major economic expense in finishing and developing cattle; however, collection of feed intake data is costly. Examining relationships among measures of growth and intake, including breed differences, could facilitate selection for efficient cattle. Objectives of this study were to estimate genetic parameters for growth and intake traits and compare indices for feed efficiency to accelerate selection response. On-test ADFI and on-test ADG (TESTADG) and postweaning ADG (PWADG) records for 5,606 finishing steers and growing heifers were collected at the U...
April 2017: Journal of Animal Science
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