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https://www.readbyqxmd.com/read/28734158/interaction-between-platelet-derived-micrornas-and-cyp2c19-2-genotype-on-clopidogrel-antiplatelet-responsiveness-in-patients-with-acs
#1
Li Peng, Jun Liu, Liuan Qin, Jia Liu, Shaozhi Xi, Caiyi Lu, Tong Yin
BACKGROUND: Both platelet-derived microRNAs and the genotype of CYP2C19*2 were implicated for the variability of clopidogrel antiplatelet responsiveness. However, their interaction on the antiplatelet responsiveness of clopidogrel in patients with acute coronary syndrome (ACS) remains unknown. METHODS: Consecutive clopidogrel-treated patients with ACS were recruited, with their antiplatelet responsiveness evaluated by the relative platelet inhibition (RI), as measured by light transmittance aggregometry (LTA) at baseline and 5days' after the maintenance treatment of clopidogrel...
July 13, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28732081/il-6-variant-is-associated-with-metastasis-in-breast-cancer-patients
#2
Chike O Abana, Brian S Bingham, Ju Hwan Cho, Amy J Graves, Tatsuki Koyama, Robert T Pilarski, A Bapsi Chakravarthy, Fen Xia
INTRODUCTION: Although tumor metastases remain significant drivers of mortality, the genetic factors that increase the risks of metastases are not fully identified. Interleukin 6 (IL-6) has emerged as an important factor in breast cancer progression with IL-6 single nucleotide polymorphism (SNP) variants shown to affect survival. We hypothesized that SNPs of the IL-6 promoter at rs1800795 in breast cancer patients are associated with distant metastases. METHODS: We performed an initial case-control study using Vanderbilt University Medical Center's BioVU, a genomic biobank linked to de-identified electronic medical records in the Synthetic Derivative database, to identify germline SNPs that may predict the development of metastatic disease to any site from any solid tumor including breast cancer...
2017: PloS One
https://www.readbyqxmd.com/read/28731362/greater-cognitive-deficits-with-sleep-disordered-breathing-among-individuals-with-genetic-susceptibility-to-alzheimer-s-disease-the-multi-ethnic-study-of-atherosclerosis
#3
Dayna A Johnson, Jacqueline Lane, Rui Wang, Michelle Reid, Ina Djonlagic, Annette L Fitzpatrick, Stephen R Rapp, Luenda E Charles, Ruth O'Hara, Richa Saxena, Susan Redline
RATIONALE: There are conflicting findings regarding the link between sleep apnea and cognitive dysfunction. OBJECTIVE: Investigate associations between indicators of sleep-disordered breathing (SDB) and cognitive function in the Multi-Ethnic Study of Atherosclerosis and assess effect modification by the apolipoprotein ε-4 (APOE-ε4) allele. METHODS: A diverse population (N=1,752) underwent Type 2 in-home polysomnography, which included measurement of % sleep time <90% oxyhemoglobin saturation (%Sat<90%) and apnea-hypopnea index (AHI)...
July 21, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28729773/is-new-american-thyroid-association-risk-classification-for-hereditary-medullary-thyroid-carcinoma-applicable-to-chinese-patients-a-single-center-study
#4
Xiwei Zhang, Dangui Yan, Junyi Wang, Hanfeng Wan, Yongxia Zhang, Yabing Zhang, Yuqin He, Wensheng Liu, Bin Zhang
OBJECTIVE: The American Thyroid Association (ATA) proposed a new risk classification for hereditary medullary thyroid carcinoma (MTC) in 2015. This study aimed to assess whether the new guidelines are suitable for the Chinese population, and reported our experience on prophylactic thyroidectomy. METHODS: A total of 73 patients from 22 families were screened as rearranged during transfection (RET) mutation carriers from 2010 to 2016 in Cancer Hospital, Chinese Academy of Medical Science; the medical history for each patient was collected...
June 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/28728970/the-staphylococcus-aureus-fasii-bypass-escape-route-from-fasii-inhibitors
#5
REVIEW
Claire Morvan, David Halpern, Gérald Kénanian, Amit Pathania, Jamila Mondoloni-Anba, Gilles Lamberet, Alexandra Gruss, Karine Gloux
Antimicrobials targeting the fatty acid synthesis (FASII) pathway are being developed as alternative treatments for bacterial infections. Emergence of resistance to FASII inhibitors was mainly considered as a consequence of mutations in the FASII target genes. However, an alternative and efficient anti-FASII resistance strategy, called here FASII bypass, was uncovered. Bacteria that bypass FASII make use of exogenous fatty acids to build their membranes, and thus dispense with the need for FASII. This strategy is used by numerous Gram-positive low GC% bacteria, including streptococci, enterococci, and staphylococci...
July 17, 2017: Biochimie
https://www.readbyqxmd.com/read/28728573/splicing-arrays-reveal-novel-rbm10-targets-including-smn2-pre-mrna
#6
Leslie C Sutherland, Philippe Thibault, Mathieu Durand, Elvy Lapointe, Jose M Knee, Ariane Beauvais, Irina Kalatskaya, Sarah C Hunt, Julie J Loiselle, Justin G Roy, Sarah J Tessier, Gustavo Ybazeta, Lincoln Stein, Rashmi Kothary, Roscoe Klinck, Benoit Chabot
BACKGROUND: RBM10 is an RNA binding protein involved in message stabilization and alternative splicing regulation. The objective of the research described herein was to identify novel targets of RBM10-regulated splicing. To accomplish this, we downregulated RBM10 in human cell lines, using small interfering RNAs, then monitored alternative splicing, using a reverse transcription-PCR screening platform. RESULTS: RBM10 knockdown (KD) provoked alterations in splicing events in 10-20% of the pre-mRNAs, most of which had not been previously identified as RBM10 targets...
July 20, 2017: BMC Molecular Biology
https://www.readbyqxmd.com/read/28726558/epidemiology-and-clinical-relevance-of-staphylococcus-aureus-intestinal-carriage-a-systematic-review-and-meta-analysis
#7
Julie Gagnaire, Paul O Verhoeven, Florence Grattard, Josselin Rigaill, Frédéric Lucht, Bruno Pozzetto, Philippe Berthelot, Elisabeth Botelho-Nevers
Recent data highlight the importance of screening more than one site for improving the detection of S. aureus colonization. Intestinal carriage is frequently under-investigated and its clinical impact ought to be defined a better way. Areas covered. This review and meta-analysis provide an updated overview of prevalence, characteristics and clinical significance of S. aureus intestinal carriage in different populations, both for methicillin-susceptible and -resistant S. aureus strains. Expert commentary. Intestinal S...
July 20, 2017: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/28724560/accurate-detection-of-methicillin-resistant-staphylococcus-aureus-in-mixtures-utilizing-single-bacterial-duplex-droplet-digital-pcr
#8
Jun Luo, Junhua Li, Hang Yang, Junping Yu, Hongping Wei
Accurate and rapid identification of methicillin-resistant Staphylococcus aureus (MRSA) is needed to screen MRSA carriers and improve treatment. The current widely used duplex PCR methods are not able to differentiate MRSA from the co-existence of methicillin-susceptible S. aureus (MSSA) and other methicillin-resistant Staphylococci In this study, we aimed to develop a direct method for accurate and rapid detection of MRSA in clinical samples from open environments, such as nasal swab. The new molecular assay is based on detecting the co-occurrence of nuc and mecA markers in a single bacterial cell by utilizing droplet digital PCR (ddPCR) with a chimeric lysin ClyH for cell lysis...
July 19, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28724391/hormone-receptor-status-of-a-first-primary-breast-cancer-predicts-contralateral-breast-cancer-risk-in-the-wecare-study-population
#9
Anne S Reiner, Charles F Lynch, Julia S Sisti, Esther M John, Jennifer D Brooks, Leslie Bernstein, Julia A Knight, Li Hsu, Patrick Concannon, Lene Mellemkjær, Marc Tischkowitz, Robert W Haile, Ronglai Shen, Kathleen E Malone, Meghan Woods, Xiaolin Liang, Monica Morrow, Jonine L Bernstein
BACKGROUND: Previous population-based studies have described first primary breast cancer tumor characteristics and their association with contralateral breast cancer (CBC) risk. However, information on influential covariates such as treatment, family history of breast cancer, and BRCA1/2 mutation carrier status was not available. In a large, population-based, case-control study, we evaluated whether tumor characteristics of the first primary breast cancer are associated with risk of developing second primary asynchronous CBC, overall and in subgroups of interest, including among BRCA1/2 mutation non-carriers, women who are not treated with tamoxifen, and women without a breast cancer family history...
July 19, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28722485/characterization-of-nontyphoidal-salmonella-isolates-from-asymptomatic-migrant-food-handlers-in-peninsular-malaysia
#10
Pei Yee Woh, Kwai Lin Thong, Jerzy Marian Behnke, John Watkin Lewis, Siti Nursheena Mohd Zain
Asymptomatic Salmonella carriers who work as food handlers pose food safety and public health risks, particularly during food preparation, and this has serious implications for the disease burden in society. Therefore, we conducted a study to determine the number of Salmonella carriers in a migrant cohort in several food establishments in three major cities in Peninsular Malaysia. Sociodemographic data and stool samples were collected and analyzed using standard methods of detection and isolation. Antimicrobial susceptibility tests of the positive samples were also performed...
July 19, 2017: Journal of Food Protection
https://www.readbyqxmd.com/read/28722147/surface-isoelectric-focusing-sief-with-carrier-ampholyte-ph-gradient
#11
Zhichao Wang, Cornelius Ivory, Adrienne R Minerick
Isoelectric focusing (IEF) is a powerful tool for amphoteric protein separations because of high sensitivity, bio-compatibility, and reduced complexity compared to chromatography or mechanical separation techniques. IEF miniaturization is attractive because it enables rapid analysis, easier adaptation to point of care applications, and smaller sample demands. However, existing small-scale IEF tools have not yet been able to analyze single protein spots from array libraries, which are ubiquitous in many pharmaceutical discovery and screening protocols...
July 19, 2017: Electrophoresis
https://www.readbyqxmd.com/read/28721477/imipenem-resistant-gram-negative-bacterial-isolates-carried-by-persons-upon-medical-examination-in-korea
#12
So Yeon Kim, Sang Yop Shin, Ji-Young Rhee, Kwan Soo Ko
Carbapenem-resistant Gram-negative bacteria (CR-GNB) have emerged and disseminated worldwide, become a great concern worldwide including Korea. The prevalence of fecal carriage of imipenem-resistant Gram-negative bacteria (IR-GNB) in persons in Korea was investigated. Stool samples were collected from 300 persons upon medical examination. Samples were screened for IR-GNB by using MacConkey agar with 2 μl/ml imipenem. Species were identified by 16S rRNA gene sequence analysis, and antimicrobial susceptibility was determined by the broth microdilution method...
July 18, 2017: Journal of Microbiology / the Microbiological Society of Korea
https://www.readbyqxmd.com/read/28721335/investigation-of-newborns-with-abnormal-results-in-a-newborn-screening-program-for-four-lysosomal-storage-diseases-in-brazil
#13
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F M Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28719513/dihydrofolate-reductase-genetic-polymorphisms-affect-methotrexate-dose-requirements-in-pediatric-patients-with-acute-lymphoblastic-leukemia-on-maintenance-therapy
#14
Guillermo Gervasini, Silvia G de Murillo, Mercedes Jiménez, María D de la Maya, Jose M Vagace
We have aimed to determine the effect of polymorphisms in regulatory regions of the DHFR gene in relation to methotrexate (MTX) dose adjustments and drug-induced toxicity in children on maintenance therapy for acute lymphoblastic leukemia (ALL). In total, 41 children diagnosed with ALL were screened for 3 tag-single nucleotide polymorphisms in the DHFR promoter (C-1610G, C-680G/T, A-317G) and an intronic 19-bp insertion/deletion. Genotypes were analyzed in relation to dose requirements and toxicity. The percentage of MTX dose administered (with respect to protocol-recommended values) was affected by DHFR polymorphisms...
July 17, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28718270/salmonella-infection-amongst-food-workers-in-lahore
#15
Sajjad Ullah, Saira Bashir, Akif Qasim
This descriptive observational study was conducted at Pathology lab Jinnah hospital, Lahore, January 2013 to October 2015. We include all the food workers in different restaurants, slaughters, inn, recreation centre and bakeries of Lahore for the purpose to identify the salmonella infection, we used Typhoid IgGI/IgM Rapid test device methods (Serum/Plasma), is a lateral flow chromatographic immunoassay technique were calculated. We analysed 1025 individuals, 62 (6%) were found positive for the said diseases out of which 14 (1...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28717666/whole-exome-sequencing-and-dna-methylation-analysis-in-a-clinical-amyotrophic-lateral-sclerosis-cohort
#16
Fleur C Garton, Beben Benyamin, Qiongyi Zhao, Zhijun Liu, Jacob Gratten, Anjali K Henders, Zong-Hong Zhang, Janette Edson, Sarah Furlong, Sarah Morgan, Susan Heggie, Kathryn Thorpe, Casey Pfluger, Karen A Mather, Perminder S Sachdev, Allan F McRae, Matthew R Robinson, Sonia Shah, Peter M Visscher, Marie Mangelsdorf, Robert D Henderson, Naomi R Wray, Pamela A McCombe
BACKGROUND: Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants. METHODS: We use whole exome sequencing (WES) to develop a clinically relevant approach to identify a subset of ALS patients harboring likely pathogenic mutations. In parallel, we assess if DNA methylation can be used to screen for pathogenicity of novel variants since a methylation signature has been shown to associate with the pathogenic C9orf72 expansion, but has not been explored for other ALS mutations...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717431/polymorphisms-at-activated-protein-c-cleavage-sites-of-factor-v-are-they-important-in-the-absence-of-factor-v-leiden
#17
Ehsan Kheradmand, Shaghayegh Haghjooy-Javanmard, Leila Dehghani, Mohammad Saadatnia
Background: Activated protein C (APC) inactivates factor V (FV) by cleavage of its heavy chain at Arg306, Arg506, Arg679, and Lys994. Mutational changes, which abolish APC cleavage sites, may predispose thrombosis by altering the inactivation process of FV. FV Leiden (FVL) (Arg506Glu) has been demonstrated as a strong risk factor for thrombosis. In the current study, we have studied whether mutations in the cleavage sites of FV for APC, not due to FVL, would have a role in presenting APC resistance (APCR) and initiation of a cerebral thrombotic event...
January 5, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#18
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28713835/rapid-detection-of-the-mt3243a%C3%A2-%C3%A2-g-mutation-using-urine-sediment-in-elderly-chinese-type-2-diabetic-patients
#19
Yinan Zhang, Xiujuan Du, Xinqian Geng, Chen Chu, Huijuan Lu, Yixie Shen, Ruihua Chen, Pingyan Fang, Yanmei Feng, Xiaojie Zhang, Yan Chen, Yanping Zhou, Congrong Wang, Weiping Jia
OBJECTIVE: In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. METHODS: DNA was extracted from blood, saliva, and urine sediment samples. The mutation screening and quantitation of heteroplasmy were performed by high-resolution melting (HRM) curve and pyrosequencing, respectively. Patients with mt3243A > G mutation underwent a detailed audiometric, ophthalmologic, neurological, and cardiac examination...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/28712484/relevance-of-dna-damage-repair-in-the-management-of-prostate-cancer
#20
Patricia Banks, Wen Xu, Declan Murphy, Paul James, Shahneen Sandhu
Recent insights into the genomic aberrations that underlie and drive prostate cancer have redoubled efforts to molecularly stratify treatments based on predictive markers. Approximately 23% of patients with metastatic castration-resistant prostate cancer exhibit somatic or germline aberrations in genes implicated in DNA repair, such as BRCA2, BRCA1, ATM, CHEK2, and PALB2, as well as mismatch repair genes. At least 10% of men with advanced disease have germline mutations in DNA-repair genes (DRG). The enrichment of DRG defects in metastatic disease compared with localized, primary tumors suggests a possible role in carcinogenesis, disease progression, and potentially accounts for a more aggressive phenotype...
June 27, 2017: Current Problems in Cancer
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