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https://www.readbyqxmd.com/read/27915475/how-precisely-can-prostate-cancer-be-managed
#1
REVIEW
Liyan Zhuang, Matthew T Johnson
Progress has been made in applying genetic information to disease management in the postgenomic era, and precision medicine is emerging in prostate cancer management. The prostate health index, the 4-kallikrein (4K) score, and the PCA3, TMPRSS2- ERG, and Prostarix tests have potential for refining prostate cancer screening in conjunction with traditional prostate-specific antigen testing. The Confirm MDx and PCA3 tests have shown promise in identifying men who need be rebiopsied after a primary negative biopsy...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915474/racial-differences-in-the-diagnosis-and-treatment-of-prostate-cancer
#2
REVIEW
Giuliano Di Pietro, Ganna Chornokur, Nagi B Kumar, Chemar Davis, Jong Y Park
Disparities between African American and Caucasian men in prostate cancer (PCa) diagnosis and treatment in the United States have been well established, with significant racial disparities documented at all stages of PCa management, from differences in the type of treatment offered to progression-free survival or death. These disparities appear to be complex in nature, involving biological determinants as well as socioeconomic and cultural aspects. We present a review of the literature on racial disparities in the diagnosis of PCa, treatment, survival, and genetic susceptibility...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27915266/systematic-ajmaline-challenge-in-patients-with-long-qt-3-syndrome-caused-by-the-most-common-mutation-a-multicentre-study
#3
Stephan Hohmann, Boris Rudic, Torsten Konrad, David Duncker, Thorben König, Erol Tülümen, Thomas Rostock, Martin Borggrefe, Christian Veltmann
AIMS: Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. METHODS AND RESULTS: Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study...
December 2, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/27915087/genetically-unrelated-multidrug-and-carbapenem-resistant-citrobacter-freundii-detected-in-outpatients-admitted-to-a-portuguese-hospital
#4
Cátia Santos, Elmano Ramalheira, Gabriela Da Silva, Sónia Mendo
OBJECTIVES: Non-clonal, carbapenem- and multidrug-resistant Citrobacter freundii isolates were collected from unrelated outpatients admitted to a Portuguese hospital emergency department. One patient lived in a nursing home and was never hospitalised, whereas the other patient was repeatedly hospitalised in this hospital. The aim of this study was to unveil the molecular mechanisms associated with the carbapenem resistance of these isolates and to assess its potential dissemination. METHODS: Isolate identification was performed by VITEK(®)2 and was confirmed by 16S rDNA sequencing...
November 15, 2016: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/27915083/pharmacodynamic-and-cytogenetic-evaluation-in-cyp2c19-2-and-cyp2c19-3-allelomorphism-in-south-indian-population-with-clopidogrel-therapy
#5
Javeed Ahmad Tantray, K Pratap Reddy, Kaiser Jamil, Y Shiva Kumar
BACKGROUND: Genetic factors play a significant role in pathogenesis of most diseases of heart. The present study was undertaken to correlate coronary artery disease with demographical, biochemical alterations, SNPs, gene expression and chromosomal abnormalities and for further enlightening the investigation in this field. METHODS: 150 patients taking clopidogrel drug were selected and single nucleotide polymorphism was done by PCR-RFLP techniques. With the same patients cytogenetic analysis was carried out on leukocyte cultures by karyotyping...
November 11, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27915035/hyperinsulinaemic-hypoglycaemia-in-children-and-adults
#6
REVIEW
Pratik Shah, Sofia A Rahman, Huseyin Demirbilek, Maria Güemes, Khalid Hussain
Pancreatic β cells are functionally programmed to release insulin in response to changes in plasma glucose concentration. Insulin secretion is precisely regulated so that, under normal physiological conditions, fasting plasma glucose concentrations are kept within a narrow range of 3·5-5·5 mmol/L. In hyperinsulinaemic hypoglycaemia, insulin secretion becomes dysregulated (ie, uncoupled from glucose metabolism) so that insulin secretion persists in the presence of low plasma glucose concentrations. Hyperinsulinaemic hypoglycaemia is the most common cause of severe and persistent hypoglycaemia in neonates and children...
November 30, 2016: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/27914874/transmission-networks-and-risk-of-hiv-infection-in-kwazulu-natal-south-africa-a-community-wide-phylogenetic-study
#7
Tulio de Oliveira, Ayesha B M Kharsany, Tiago Gräf, Cherie Cawood, David Khanyile, Anneke Grobler, Adrian Puren, Savathree Madurai, Cheryl Baxter, Quarraisha Abdool Karim, Salim S Abdool Karim
BACKGROUND: The incidence of HIV infection in young women in Africa is very high. We did a large-scale community-wide phylogenetic study to examine the underlying HIV transmission dynamics and the source and consequences of high rates of HIV infection in young women in South Africa. METHODS: We did a cross-sectional household survey of randomly selected individuals aged 15-49 years in two neighbouring subdistricts (one urban and one rural) with a high burden of HIV infection in KwaZulu-Natal, South Africa...
November 30, 2016: Lancet HIV
https://www.readbyqxmd.com/read/27914838/lacrimal-gland-involvement-in-blepharophimosis-ptosis-epicanthus-inversus-syndrome
#8
Ana Filipa Duarte, Patricia M S Akaishi, Greice A de Molfetta, Salomão Chodraui-Filho, Murilo Cintra, Alcina Toscano, Wilson Araujo Silva, Antonio A V Cruz
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I...
November 30, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27914610/lack-of-association-between-vitamin-d-receptor-polymorphisms-apai-rs7975232-and-bsmi-rs1544410-and-osteoporosis-among-the-han-chinese-population-a-meta-analysis
#9
Meng Yu, Guo-Qiang Chen, Fang Yu
In this study, we aimed to assess the relationship between vitamin D receptor gene polymorphisms and osteoporosis in the Han Chinese population. Articles regarding associations between vitamin D receptor polymorphisms (ApaI rs7975232 and BsmI rs1544410) and osteoporosis were retrieved from databases in November 2014. Eligible studies were tested by the Hardy-Weinberg equilibrium. The odds ratio and 95% confidence interval (95% CI) were analyzed to evaluate the strength of the associations. Pooled effect estimates were derived using a fixed-effect model and a random-effect model according to the heterogeneity of the test results...
December 2016: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/27914472/the-response-to-receiving-phenotypic-and-genetic-coronary-heart-disease-risk-scores-and-lifestyle-advice-a-qualitative-study
#10
Guy Shefer, Barbora Silarova, Juliet Usher-Smith, Simon Griffin
BACKGROUND: Individuals routinely receive information about their risk of coronary heart disease (CHD) based on traditional risk factors as part of their primary care. We are also able to calculate individual's risk of CHD based on their genetic information and at present genetic testing for common diseases is available to the public. Due to the limitations in previous studies further understanding is needed about the impact of the risk information on individual's well-being and health-behaviour...
December 3, 2016: BMC Public Health
https://www.readbyqxmd.com/read/27914222/molecular-diversity-of-human-parvovirus-b19-during-two-outbreaks-of-erythema-infectiosum-in-brazil
#11
Rita de Cássia Nasser Cubel Garcia, Renata Freire Alves Pereira, Kátia Martins Lopes de Azevedo, Tatiana Xavier de Castro, Francisco C A Mello, Sérgio Setubal, Marilda M Siqueira, David Brown, Solange Artimos de Oliveira
This study was conducted to provide information on the genetic diversity of human parvovirus B19 (B19V) circulating in the municipality of Niterói, Rio de Janeiro, Southeast Brazil during 1996-2006, a period with two distinct outbreaks of B19V infection: 1999-2000 and 2004-2005. A total of 27 sera from patients with erythema infectiosum (EI) and five sera from HIV-infected patients that tested positive for B19V DNA during the study period were analyzed. To genotype B19V strains, a semi-nested PCR for partial amplification of the capsid gene was performed and sequence analysis revealed that 31 sequences belonged to subgenotype 1a (G1a) of the main genotype 1 and one sequence was characterized as subgenotype 3b (G3b)...
November 30, 2016: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/27914203/multiple-processes-drive-genetic-structure-of-humpback-whale-megaptera-novaeangliae-populations-across-spatial-scales
#12
Francine Kershaw, Inês Carvalho, Jacqueline Loo, Cristina Pomilla, Peter B Best, Ken P Findlay, Salvatore Cerchio, Tim Collins, Marcia H Engel, Gianna Minton, Peter Ersts, Jaco Barendse, P G H Kotze, Yvette Razafindrakoto, Solange Ngouessono, Michael Meÿer, Meredith Thorton, Howard C Rosenbaum
Elucidating patterns of population structure for species with complex life histories, and disentangling the processes driving such patterns, remains a significant analytical challenge. Humpback whale (Megaptera novaeangliae) populations display complex genetic structures that have not been fully resolved at all spatial scales. We generated a data set of nuclear markers for 3,575 samples spanning the seven breeding stocks and substocks found in the South Atlantic and western and northern Indian Oceans. For the total sample, and males and females separately, we assessed genetic diversity, tested for genetic differentiation between putative populations and isolation by distance, estimated the number of genetic clusters without a priori population information, and estimated rates of gene flow using maximum likelihood and Bayesian approaches...
December 3, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27914109/bcor-upregulation-in-a-poorly-differentiated-synovial-sarcoma-with-ss18l1-ssx1-fusion-a-pathologic-and-molecular-pitfall
#13
Yu-Chien Kao, Yun-Shao Sung, Lei Zhang, Samuel Kenan, Samuel Singer, William D Tap, David Swanson, Brendan C Dickson, Cristina R Antonescu
The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH which were misinterpreted as a URCS with BCOR gene rearrangements...
December 3, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27913912/genetic-counselor-practices-involving-pediatric-patients-with-fap-an-investigation-of-their-self-reported-strategies-for-genetic-testing-and-hepatoblastoma-screening
#14
Caitlin E Lawson, Thomas M Attard, Hongying Dai, Seth Septer
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma...
December 3, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27913846/potent-mutagenicity-of-some-non-planar-tri-and-tetrachlorinated-biphenyls-in-mammalian-cells-human-cyp2e1-being-a-major-activating-enzyme
#15
Yungang Liu, Keqi Hu, Hansi Jia, Guifang Jin, Hansruedi Glatt, Hao Jiang
Polychlorinated biphenyls (PCBs) have been classified as human carcinogens. Mutagenicity of lower chlorinated biphenyls as well as activation of transcription factors by some other congeners may contribute to the carcinogenicity of PCBs. Recently, we reported that human CYP2E1 activates mono- and dichlorobiphenyls to mutagens. However, mutagenicity of other PCBs and the involvement of other CYPs remained unknown. In this study, Chinese hamster V79-derived cell lines genetically engineered for expression of individual human CYP enzymes and a human hepatocyte (L-02) line endogenously expressing various CYPs were used to determine the activities of several tri- and tetrachlorobiphenyls to induce micronuclei and gene mutations...
December 2, 2016: Archives of Toxicology
https://www.readbyqxmd.com/read/27913833/tight-repulsion-linkage-between-sr36-and-sr39-was-revealed-by-genetic-cytogenetic-and-molecular-analyses
#16
Bosco Chemayek, Urmil K Bansal, Naeela Qureshi, Peng Zhang, William W Wagoire, Harbans S Bariana
The shortening of Aegilops speltoides segment did not facilitate recombination between stem rust resistance genes Sr36 and Sr39 . Robustness of marker rwgs28 for marker-assisted selection of Sr39 was demonstrated. Stem rust resistance genes Sr39 and Sr36 were transferred from Aegilops speltoides and Triticum timopheevii, respectively, to chromosome 2B of wheat. Genetic stocks RL6082 and RWG1 carrying Sr39 on a large and a shortened Ae. speltoides segments, respectively, and the Sr36-carrying Australian wheat cultivar Cook were used in this study...
December 2, 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/27913832/general-and-specific-combining-abilities-in-a-maize-zea-mays-l-test-cross-hybrid-panel-relative-importance-of-population-structure-and-genetic-divergence-between-parents
#17
A Larièpe, L Moreau, J Laborde, C Bauland, S Mezmouk, L Décousset, T Mary-Huard, J B Fiévet, A Gallais, P Dubreuil, A Charcosset
General and specific combining abilities of maize hybrids between 288 inbred lines and three tester lines were highly related to population structure and genetic distance inferred from SNP data. Many studies have attempted to provide reliable and quick methods to identify promising parental lines and combinations in hybrid breeding programs. Since the 1950s, maize germplasm has been organized into heterotic groups to facilitate the exploitation of heterosis. Molecular markers have proven efficient tools to address the organization of genetic diversity and the relationship between lines or populations...
December 2, 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/27913816/genetic-ablation-or-pharmacologic-inhibition-of-autophagy-mitigated-nsaid-associated-gastric-damages
#18
Chan Young Ock, Jong-Min Park, Young-Min Han, Migyeong Jeong, Mi-Young Kim, Ho Jae Lee, Ki Baik Hahm
: Non-steroidal anti-inflammatory drug (NSAID)-associated endoplasmic reticulum (ER) stress (a cyclooxygenase-2-independent mechanism) and consequent autophagic cell death are responsible for NSAID-associated gastric damage. Therefore, alleviating cytotoxicity executed via ER stress and autophagy can be a strategy to prevent NSAID-associated gastric damage. Here, we explored whether genetic or pharmacologic inhibition of autophagy can mitigate NSAID-associated gastric damage in in vitro and in vivo models...
December 2, 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27913792/genetic-engineering-approach-to-develop-next-generation-reagents-for-endotoxin-quantification
#19
Hikaru Mizumura, Norihiko Ogura, Jun Aketagawa, Maki Aizawa, Yuki Kobayashi, Shun-Ichiro Kawabata, Toshio Oda
The bacterial endotoxin test, which uses amebocyte lysate reagents of horseshoe crab origin, is a sensitive, reproducible and simple assay to measure endotoxin concentration. To develop sustainable raw materials for lysate reagents that do not require horseshoe crabs, three recombinant protease zymogens (factor C, derived from mammalian cells; factor B; and the proclotting enzyme derived from insect cells) were prepared using a genetic engineering technique. Recombinant cascade reagents (RCRs) were then prepared to reconstruct the reaction cascade in the amebocyte lysate reagent...
December 1, 2016: Innate Immunity
https://www.readbyqxmd.com/read/27913618/meiotic-centromere-coupling-and-pairing-function-by-two-separate-mechanisms-in-saccharomyces-cerevisiae
#20
Emily L Kurdzo, David Obeso, Hoa Chuong, Dean S Dawson
In meiosis I, chromosomes become paired with their homologous partners and then are pulled towards opposite poles of the spindle. In the budding yeast, Saccharomyces cerevisiae, in early meiotic prophase, centromeres are observed to associate in pairs in a homology-independent manner, a process called centromere coupling. Later, as homologous chromosomes align, their centromeres associate in a process called centromere pairing. The synaptonemal complex protein Zip1 is necessary for both types of centromere association...
December 2, 2016: Genetics
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