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https://www.readbyqxmd.com/read/30426382/molecular-genetic-diagnosis-of-wilson-disease-by-arms-pcr-in-a-pakistani-family
#1
Haq Nawaz Khan, Muhammad Wasim, Hina Ayesha, Fazli Rabbi Awan
Wilson disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene causing hepatic and neurological damage due to copper accumulation. Early diagnosis and treatment could lead to improved survival of patients. Patients are best treated at pre-symptomatic stages but early diagnosis of Wilson disease is challenging owing to complex diagnosis. Evidence based genetic counseling requires characterization of underlying mutations in Wilson disease families. The aim was to characterize the causative mutation(s) in a Pakistani Wilson disease family by custom developed ARMS-PCR assay...
November 13, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/30424881/what-are-patients-doing-with-their-mosaic-embryos-decision-making-after-genetic-counseling
#2
Andria G Besser, David H McCulloh, James A Grifo
OBJECTIVE: To assess patient decisions regarding mosaic embryos and their impact on clinical outcomes. DESIGN: Review of patients who had genetic counseling regarding mosaic embryos. SETTING: Academic department. PATIENT(S): Ninety-eight patients who had mosaic embryos but no euploid embryos. INTERVENTION(S): Genetic counseling to discuss mosaic-embryo transfer (MET) after preimplantation genetic testing for aneuploidy...
November 10, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/30423028/comparison-of-phenotypic-activated-protein-c-resistance-testing-with-a-genetic-assay-for-factor-v-leiden
#3
Colin H Murphy, Daniel E Sabath
Objectives: To compare the accuracy and reliability of phenotypic activated protein C resistance (aPC-R) assays with a genotypic assay for the factor V Leiden F5 p.R506Q (FVL) mutation. Methods: Data were obtained from an electronic data warehouse for FVL testing performed at an academic institution with a large referral laboratory service. In total, 1,596 patients were identified who had undergone both phenotypic aPC-R and genotypic FVL mutation testing. Results: Phenotypic testing showed a high level of sensitivity, specificity, and other biostatistical values compared with genotypic testing...
November 13, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/30417945/no-evidence-for-sibling-or-parent-offspring-coadaptation-in-a-wild-population-of-blue-tits-despite-high-power
#4
Caroline E Thomson, Jarrod D Hadfield
Parent and offspring behaviours are expected to act as both the agents and targets of selection. This may generate parent-offspring coadaptation in which parent and offspring behaviours become genetically correlated in a way that increases inclusive fitness. Cross-fostering has been used to study parent-offspring coadaptation, with the prediction that offspring raised by non-relatives, or parents raising non-relatives, should suffer fitness costs. Using long-term data from more than 400 partially crossed broods of blue tits (Cyanistes caeruleus) we show there is no difference in mass or survival between crossed and non-crossed chicks...
November 12, 2018: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/30408753/a-high-throughput-real-time-in-vitro-assay-using-mitochondrial-targeted-rogfp-for-screening-of-drugs-targeting-mitochondria
#5
Aneesh Chandrasekharan, Shankara Narayanan Varadarajan, Asha Lekshmi, Santhik Subhasingh Lupitha, Pramod Darvin, Leena Chandrasekhar, Prakash Rajappan Pillai, T R Santhoshkumar, M Radhakrishna Pillai
Most toxic compounds including cancer drugs target mitochondria culminating in its permeabilization. Cancer drug-screening and toxicological testing of compounds require cost-effective and sensitive high-throughput methods to detect mitochondrial damage. Real-time methods for detection of mitochondrial damage are less toxic, allow kinetic measurements with good spatial resolution and are preferred over end-stage assays. Cancer cell lines stably expressing genetically encoded mitochondrial-targeted redox-GFP2 (mt-roGFP) were developed and validated for its suitability as a mitochondrial damage sensor...
October 24, 2018: Redox Biology
https://www.readbyqxmd.com/read/30402061/sperm-priming-response-to-perceived-mating-opportunities-is-reduced-in-male-guppies-with-high-baseline-sperm-production
#6
Silvia Cattelan, Andrea Pilastro
Producing sperm is costly and males have been selected to strategically adjust their sperm production and/or expenditure according to the fitness return associated with a specific mating. For example, males respond to fluctuations in the mating opportunities by adjusting the number of "ready" sperm. This phenomenon is known as "sperm priming" and is interpreted as a strategy to economize the investment in sperm . The cost and benefits of the sperm priming response, however, are expected to depend on a male's baseline sperm production (BSP) in the absence of females, because of the different risk of sperm depletion and the nonlinearly increasing costs of sperm production...
April 2018: Current Zoology
https://www.readbyqxmd.com/read/30400647/population-based-testing-for-primary-prevention-a-systematic-review
#7
REVIEW
Ranjit Manchanda, Faiza Gaba
The current clinical model for genetic testing is based on clinical-criteria/family-history (FH) and a pre-defined mutation probability threshold. It requires people to develop cancer before identifying unaffected individuals in the family to target prevention. This process is inefficient, resource intensive and misses >50% of individuals or mutation carriers at risk. Population genetic-testing can overcome these limitations. It is technically feasible to test populations on a large scale; genetic-testing costs are falling and acceptability and awareness are rising...
November 5, 2018: Cancers
https://www.readbyqxmd.com/read/30400625/impact-of-precision-medicine-on-drug-repositioning-and-pricing-a-too-small-to-thrive-crisis
#8
REVIEW
Venkataswarup Tiriveedhi
The pricing of targeted medicines continues to be a major area of contention in healthcare economics. This issue is further complicated by redefining the role of molecular testing in precision medicine. Currently, whilst pricing of clinical laboratory diagnostics is cost-based, drug pricing is value-based. The pricing for molecular testing is under pressure to change the traditional business model, for it has a critical subsidiary role in determining the final value of targeted medicines. The market size for drugs is reduced by molecular testing when patients with the same disease are stratified based on their genetics, it is critical to determine the value of this new enhanced drug specificity to realize its full pricing potential...
November 5, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/30389042/genotyping-mycoplasma-synoviae-development-of-a-multi-locus-variable-number-of-tandem-repeats-analysis-and-comparison-with-current-molecular-typing-methods
#9
Zsuzsa Kreizinger, Kinga M Sulyok, Katinka Bekő, Áron B Kovács, Dénes Grózner, Orsolya Felde, Szilvia Marton, Krisztián Bányai, Salvatore Catania, Dušan Benčina, Miklós Gyuranecz
Control of one of the most important avian mycoplasmas, Mycoplasma synoviae, and tracing the spread of the infection can be challenging as the pathogen is transmissible by both horizontal and vertical routes, and it can be disseminated through long distances via the hatching eggs, day-old chicks or pullets during intensive international trade. Genetic information provided by molecular typing methods support control programmes and epizootiologic studies. The aims of the present study were to develop a multi-locus variable number of tandem-repeats analysis (MLVA) method for the typing of M...
November 2018: Veterinary Microbiology
https://www.readbyqxmd.com/read/30388102/association-analysis-using-somatic-mutations
#10
Yang Liu, Qianchan He, Wei Sun
Somatic mutations drive the growth of tumor cells and are pivotal biomarkers for many cancer treatments. Genetic association analysis using somatic mutations is an effective approach to study the functional impact of somatic mutations. However, standard regression methods are not appropriate for somatic mutation association studies because somatic mutation calls often have non-ignorable false positive rate and/or false negative rate. While large scale association analysis using somatic mutations becomes feasible recently-thanks for the improvement of sequencing techniques and the reduction of sequencing cost-there is an urgent need for a new statistical method designed for somatic mutation association analysis...
November 2, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/30385886/disparities-in-genetic-services-utilization-in-a-random-sample-of-young-breast-cancer-survivors
#11
Christos Nikolaidis, Debra Duquette, Kari E Mendelsohn-Victor, Beth Anderson, Glenn Copeland, Kara J Milliron, Sofia D Merajver, Nancy K Janz, Laurel L Northouse, Sonia A Duffy, Maria C Katapodi
PURPOSE: Increasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services. METHODS: We used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS...
November 2, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30384126/integrated-generation-of-induced-pluripotent-stem-cells-in-a-low-cost-device
#12
Haishuang Lin, Qiang Li, Qian Du, Ou Wang, Zhanqi Wang, Leonard Akert, Mark A Carlson, Chi Zhang, Anuradha Subramanian, Chi Zhang, Matthew Lunning, Ming Li, Yuguo Lei
Human induced pluripotent stem cells (iPSCs) have unlimited proliferation capability and potential to differentiate into all somatic cells. Their derivatives contain patients' genetic information and can model many diseases. Additionally, derivatives of patient-specific iPSCs induce minimal immune rejection in vivo. With this unique combination of properties, iPSCs open the avenue to personalized medicine including personalized drug screening, toxicity test, cell therapy and tissue engineering. However, the further advance of iPSC-based personalized medicine is currently limited by the difficulty to generate iPSCs for large populations and at affordable cost...
October 25, 2018: Biomaterials
https://www.readbyqxmd.com/read/30373392/annals-express-rapid-lc-ms-ms-screening-method-for-urinary-metabolites-of-primary-hyperoxaluria
#13
Gary Woodward, Robin Pryke, Bernd Hoppe, Gill Rumsby
Background The primary hyperoxalurias (PH) are inherited disorders of glyoxylate metabolism that lead to over-production of oxalate, urolithiasis and renal failure. Delays in diagnosis can be costly in terms of preserving renal function. Here we present a rapid LC-MS/MS screening method for the analysis of metabolites (PHM) produced in excess by PH patients that include glycolate, glycerate and 2,4-dihydroxyglutarate (DHG). Methods Assay performance was compared to our existing GC-MS method and clinical utility established by analysis of urine samples from patients with confirmed PH (11 PH1, 12 PH2 and 8 PH3) and controls ( n=12)...
October 29, 2018: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/30371790/genetic-correlations-among-weight-and-cumulative-productivity-of-crossbred-beef-cows
#14
W M Snelling, L A Kuehn, R M Thallman, G L Bennett, B L Golden
Mature weight of beef cows in the U.S. has been increasing as a correlated response to selection for calf growth. Unfavorable genetic correlations between cow weight and various measures of female fertility, stayability and lifetime production suggest declining cow productivity might also be expected as a correlated response to growth selection. National cattle evaluations, however, show increasing trends for stayability and sustained fertility. Random regression (RR) models were employed to further examine genetic relationships among cow weight and productivity, and to assess cumulative productivity traits observed throughout cows' productive lives...
October 29, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/30371227/systematic-review-of-studies-that-have-evaluated-screening-tests-in-relatives-of-patients-affected-by-nonsyndromic-thoracic-aortic-disease
#15
Giovanni Mariscalco, Radoslaw Debiec, John A Elefteriades, Nilesh J Samani, Gavin J Murphy
Background Nonsyndromic thoracic aortic diseases ( NS - TADs ) are often silent entities until they present as life-threatening emergencies. Despite familial inheritance being common, screening is not the current standard of care in NS - TAD s. We sought to determine the incidence of aortic diseases, the predictive accuracy of available screening tests, and the effectiveness of screening programs in relatives of patients affected by NS - TADs . Methods and Results A systematic literature search on PubMed/ MEDLINE , Embase, and the Cochrane Library was conducted from inception to the end of December 2017...
August 7, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/30371164/inca-peru-study-impact-of-non-invasive-cardiac-magnetic-resonance-assessment-in-the-developing-world
#16
Katia Menacho, Sara Ramirez, Pedro Segura, Sabrina Nordin, Amna Abdel-Gadir, Violeta Illatopa, Anish Bhuva, Giulia Benedetti, Redha Boubertakh, Pedro Abad, Bertha Rodriguez, Felix Medina, Thomas Treibel, Mark Westwood, Juliano Fernandes, John Malcolm Walker, Harold Litt, James C Moon
Background Advanced cardiac imaging permits optimal targeting of cardiac treatment but needs to be faster, cheaper, and easier for global delivery. We aimed to pilot rapid cardiac magnetic resonance ( CMR ) with contrast in a developing nation, embedding it within clinical care along with training and mentoring. Methods and Results A cross-sectional study of CMR delivery and clinical impact assessment performed 2016-2017 in an upper middle-income country. An International partnership (clinicians in Peru and collaborators from the United Kingdom, United States, Brazil, and Colombia) developed and tested a 15-minute CMR protocol in the United Kingdom, for cardiac volumes, function and scar, and delivered it with reporting combined with training, education and mentoring in 2 centers in the capital city, Lima, Peru, 100 patients referred by local doctors from 6 centers...
September 4, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/30369727/keeping-pace-with-ph-positive-to-ph-like-detection-in-b-lineage-acute-lymphoblastic-leukemia-a-practical-and-cost-effective-pace-approach-in-a-resource-constrained-setting
#17
REVIEW
Sidharth Totadri, Minu Singh, Amita Trehan, Neelam Varma, Prateek Bhatia
Philadelphia (Ph)-like or BCR-ABL like acute lymphoblastic leukemia (ALL) is defined on the basis of a gene expression profile that is similar to Ph-positive ALL. It comprises a wide spectrum of genetic lesions affecting primarily the cytokine receptor and/or kinase signalling genes. It accounts for approximately 10-15% of pediatric ALL, and is more common in patients who are high-risk according to the National Cancer Institute criteria. Presence of Ph-like mutations is an independent predictor of poor outcome...
October 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/30369456/design-of-a-clinical-decision-support-system-for-predicting-erectile-dysfunction-in-men-using-nhird-dataset
#18
Yung-Fu Chen, Chih-Sheng Lin, Chun-Fu Hong, D J Lee, Changming Sun, Hsuan-Hung Lin
Erectile dysfunction (ED) affects millions of men worldwide. Men with ED generally complain failure to attain or maintain an adequate erection during sexual activity. The prevalence of ED is strongly correlated with age, affecting about 40% of men at age 40 and nearly 70% at age 70. A variety of chronic diseases, including diabetes, ischemic heart disease, congestive heart failure, hypertension, depression, chronic renal failure, obstructive sleep apnea, prostate disease, gout, and sleep disorder, were reported to be associated with ED...
October 23, 2018: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/30363733/using-zebrafish-for-investigating-the-molecular-mechanisms-of-drug-induced-cardiotoxicity
#19
REVIEW
Zain Z Zakaria, Fatiha M Benslimane, Gheyath K Nasrallah, Samar Shurbaji, Nadin N Younes, Fatima Mraiche, Sahar I Da'as, Huseyin C Yalcin
Over the last decade, the zebrafish ( Danio rerio ) has emerged as a model organism for cardiovascular research. Zebrafish have several advantages over mammalian models. For instance, the experimental cost of using zebrafish is comparatively low; the embryos are transparent, develop externally, and have high fecundity making them suitable for large-scale genetic screening. More recently, zebrafish embryos have been used for the screening of a variety of toxic agents, particularly for cardiotoxicity testing...
2018: BioMed Research International
https://www.readbyqxmd.com/read/30360961/african-american-living-donors-attitudes-about-apol1-genetic-testing-a-mixed-methods-study
#20
Elisa J Gordon, Daniela Amόrtegui, Isaac Blancas, Catherine Wicklund, John Friedewald, Richard R Sharp
RATIONALE & OBJECTIVE: African American live kidney donors ("donors") have a greater risk for kidney failure than European American donors. Apolipoprotein L1 gene (APOL1) variants in African Americans may be associated with this disparity. STUDY DESIGN: Cross-sectional mixed-methods design. SETTING & PARTICIPANTS: African American donors at 1 transplantation center. ANALYTICAL APPROACH: Semistructured interviews assessed attitudes about APOL1 genetic testing, willingness to undergo APOL1 testing, hypothetical decisions about donating with 2 APOL1 variants, and demographics...
October 22, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
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