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David cram

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https://www.readbyqxmd.com/read/28863935/preferential-selection-and-transfer-of-euploid-noncarrier-embryos-in-preimplantation-genetic-diagnosis-cycles-for-reciprocal-translocations
#1
Li Wang, Jiandong Shen, David S Cram, Minyue Ma, Hui Wang, Wenke Zhang, Junmei Fan, Zhiying Gao, Liwen Zhang, Zhifeng Li, Mengnan Xu, Don A Leigh, Alan O Trounson, Jiayin Liu, Yuanqing Yao
OBJECTIVE: To develop and validate a new strategy to distinguish between balanced/euploid carrier and noncarrier embryos in preimplantation genetic diagnosis (PGD) cycles for reciprocal translocations and to successfully achieve a live birth after selective transfer of a noncarrier embryo. DESIGN: Retrospective and prospective study. SETTING: In vitro fertilization (IVF) units. PATIENT(S): Eleven patients undergoing mate pair sequencing for identification of translocation breakpoints, followed by clinical PGD cycles...
October 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28746019/evaluation-of-a-just-in-time-nurse-consultation-on-bone-health-a-pilot-randomized-controlled-trial
#2
Douglas W Roblin, David Zelman, Sally Plummer, Brandi E Robinson, Yiyue Lou, Stephanie W Edmonds, Fredric D Wolinsky, Kenneth G Saag, Peter Cram
CONTEXT: Evidence is inconclusive whether a nurse consultation can improve osteoporosis-related patient outcomes. OBJECTIVE: To evaluate whether a nurse consultation immediately after dual-energy x-ray absorptiometry (DXA) produced better osteoporosis-related outcomes than a simple intervention to activate adults in good bone health practices or usual care. DESIGN: Pilot randomized controlled trial, conducted within the larger Patient Activation After DXA Result Notification (PAADRN) trial (NCT01507662)...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#3
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28531267/alignment-of-1000-genomes-project-reads-to-reference-assembly-grch38
#4
Xiangqun Zheng-Bradley, Ian Streeter, Susan Fairley, David Richardson, Laura Clarke, Paul Flicek
The 1000 Genomes Project produced more than 100 trillion basepairs of short read sequence from more than 2600 samples in 26 populations over a period of five years. In its final phase, the project released over 85 million genotyped and phased variants on human reference genome assembly GRCh37. An updated reference assembly, GRCh38, was released in late 2013, but there was insufficient time for the final phase of the project analysis to change to the new assembly. Although it is possible to lift the coordinates of the 1000 Genomes Project variants to the new assembly, this is a potentially error-prone process as coordinate remapping is most appropriate only for non-repetitive regions of the genome and those that did not see significant change between the two assemblies...
July 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28303777/placental-up-regulation-of-leptin-and-arms2-is-associated-with-growth-discordance-in-monochorionic-diamniotic-twin-pregnancies
#5
Luming Sun, Jia Zhou, Kai Wang, Jian Wang, Ling Shang, Jianguang Zhang, Junqing Wu, David S Cram
Fetal growth discordance is a relatively common complication of monochorionic diamniotic (MCDA) twin pregnancies and is caused by a combination of maternal and placental factors. The aim of the study was to survey placental gene expression patterns and identify genes associated with growth discordance. Clinical samples comprised eight growth-discordant MCDA twin placentas (31+3-34+4 weeks gestational age) and six growth-concordant twin placentas (31+2-37 weeks gestational age). Gene expression libraries were constructed from placental biopsy samples and analyzed by RNA-sequencing...
April 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28247551/characterization-of-chromosomal-abnormalities-in-pregnancy-losses-reveals-critical-genes-and-loci-for-human-early-development
#6
Yiyun Chen, Justin Bartanus, Desheng Liang, Hongmin Zhu, Amy M Breman, Janice L Smith, Hua Wang, Zhilin Ren, Ankita Patel, Pawel Stankiewicz, David S Cram, Sau Wai Cheung, Lingqian Wu, Fuli Yu
Detailed characterization of chromosomal abnormalities, a common cause for congenital abnormalities and pregnancy loss, is critical for elucidating genes for human fetal development. Here, 2,186 product-of-conception samples were tested for copy-number variations (CNVs) at two clinical diagnostic centers using whole-genome sequencing and high-resolution chromosomal microarray analysis. We developed a new gene discovery approach to predict potential developmental genes and identified 275 candidate genes from CNVs detected from both datasets...
June 2017: Human Mutation
https://www.readbyqxmd.com/read/28152582/contribution-of-maternal-copy-number-variations-to-false-positive-fetal-trisomies-detected-by-noninvasive-prenatal-testing
#7
Xiya Zhou, Lili Sui, Yalan Xu, Yijun Song, Qingwei Qi, Jianguang Zhang, Hongmin Zhu, Huaiyu Sun, Feng Tian, Mengnan Xu, David S Cram, Juntao Liu
OBJECTIVE: The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false-positive noninvasive prenatal testing (NIPT) trisomy results. METHODS: A total of 112 021 patients were referred for NIPT. Fetal aneuploidy testing was performed using low coverage massively parallel sequencing, and results reported as chromosome Z-scores. Copy number variation sequencing (CNV-Seq) was used to detect maternal DNA CNVs...
April 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27908601/corrigendum-to-a-pregnancy-with-discordant-fetal-and-placental-chromosome-18-aneuploidies-revealed-by-invasive-and-noninvasive-prenatal-diagnosis-reproductive-biomedicine-online-29-2014-136-139
#8
Chong Chen, David S Cram, Fanni Xie, Ping Wang, Xueqin Xu, Huanzheng Li, Zhuo Song, Di Chen, Jianguang Zhang, Shaohua Tang
No abstract text is available yet for this article.
February 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27899642/the-ucsc-genome-browser-database-2017-update
#9
Cath Tyner, Galt P Barber, Jonathan Casper, Hiram Clawson, Mark Diekhans, Christopher Eisenhart, Clayton M Fischer, David Gibson, Jairo Navarro Gonzalez, Luvina Guruvadoo, Maximilian Haeussler, Steve Heitner, Angie S Hinrichs, Donna Karolchik, Brian T Lee, Christopher M Lee, Parisa Nejad, Brian J Raney, Kate R Rosenbloom, Matthew L Speir, Chris Villarreal, John Vivian, Ann S Zweig, David Haussler, Robert M Kuhn, W James Kent
Since its 2001 debut, the University of California, Santa Cruz (UCSC) Genome Browser (http://genome.ucsc.edu/) team has provided continuous support to the international genomics and biomedical communities through a web-based, open source platform designed for the fast, scalable display of sequence alignments and annotations landscaped against a vast collection of quality reference genome assemblies. The browser's publicly accessible databases are the backbone of a rich, integrated bioinformatics tool suite that includes a graphical interface for data queries and downloads, alignment programs, command-line utilities and more...
January 4, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/27875490/impact-of-an-integrated-hip-fracture-inpatient-program-on-length-of-stay-and-costs
#10
Christine Soong, Peter Cram, Ksenia Chezar, Faiqa Tajammal, Kathleen Exconde, John Matelski, Samir K Sinha, Howard B Abrams, Christopher Fan-Lun, Christina Fabbruzzo-Cota, David Backstein, Chaim M Bell
BACKGROUND: Hip fractures are associated with significant morbidity and mortality. Co-management models pairing orthopaedic surgeons with hospitalists or geriatricians may be effective at improving processes of care and outcomes such as length of stay (LOS) and cost. We set out to determine the effect of an integrated hip fracture co-management model on LOS, cost, and process measures. METHODS: We conducted a single-center pre-post study of 571 patients admitted to an academic medical center with hip fractures between January 2009 and December 2013...
December 2016: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/27870944/application-of-single-molecule-amplification-and-resequencing-technology-for-broad-surveillance-of-plasma-mutations-in-patients-with-advanced-lung-adenocarcinoma
#11
Zheng Wang, Gang Cheng, Xiaohong Han, Xinlin Mu, Yuhui Zhang, Di Cui, Chang Liu, Li Zhang, Zaiwen Fan, Lingyun Ma, Li Yang, Jing Di, David S Cram, Yuankai Shi, Dongge Liu
Liquid biopsy to access the circulating tumor DNA is a promising surrogate for invasive tumor genotyping. We designed a multiplex assay based on circulating single-molecule amplification and resequencing technology (cSMART) to simultaneously detect and quantitate hot spot EGFR, KRAS, BRAF, ERBB2, and ALK plasma DNA variants in 103 patients with advanced lung adenocarcinoma. In validation studies using an analytical mutation standard, the sensitivity of the assay for EGFR mutation detection was at least 0.1% and specificity was 100%...
January 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27862068/development-and-validation-of-a-fetal-genotyping-assay-with-potential-for-noninvasive-prenatal-diagnosis-of-hereditary-hearing-loss
#12
Ying Chen, Yiqian Liu, Benjing Wang, Jun Mao, Ting Wang, Kan Ye, Yanlin Ye, David S Cram, Hong Li
OBJECTIVE: Inherited non-syndromic hearing loss (NSHL) is a common sensory disorder that afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance of circulating single molecule amplification and re-sequencing technology (cSMART) for non-invasive prenatal testing (NIPT) of NSHL. METHOD: Neonatal inheritance of NSHL mutations was determined from bloodspots using SNaPshot genotyping. NIPT of cell-free DNA for fetal NSHL mutations in the GJB2, GJB3 and SLC26A4 genes was performed by a multiplex cSMART assay...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27803091/association-between-online-physician-ratings-and-cardiac-surgery-mortality
#13
Jessica J Liu, John Matelski, Peter Cram, David R Urbach, Chaim M Bell
No abstract text is available yet for this article.
November 2016: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/27672536/next-generation-sequencing-coping-with-rare-genetic-diseases-in-china
#14
REVIEW
David S Cram, Daixing Zhou
With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27576909/technical-challenges-of-enterprise-imaging-himss-siim-collaborative-white-paper
#15
REVIEW
David A Clunie, Don K Dennison, Dawn Cram, Kenneth R Persons, Mark D Bronkalla, Henri Rik Primo
This white paper explores the technical challenges and solutions for acquiring (capturing) and managing enterprise images, particularly those involving visible light applications. The types of acquisition devices used for various general-purpose photography and specialized applications including dermatology, endoscopy, and anatomic pathology are reviewed. The formats and standards used, and the associated metadata requirements and communication protocols for transfer and workflow are considered. Particular emphasis is placed on the importance of metadata capture in both order- and encounter-based workflow...
October 2016: Journal of Digital Imaging: the Official Journal of the Society for Computer Applications in Radiology
https://www.readbyqxmd.com/read/27485761/a-novel-msx1-intronic-mutation-associated-with-autosomal-dominant-non-syndromic-oligodontia-in-a-large-chinese-family-pedigree
#16
Jinjie Xue, Qingping Gao, Yanru Huang, Xiaoyu Zhang, Pu Yang, David S Cram, Desheng Liang, Lingqian Wu
BACKGROUND: Tooth agenesis is a common developmental dental anomaly. The aim of the study was to identify the causal genetic mutation in a four-generation Chinese family affected with non-syndromic autosomal dominant tooth agenesis. METHODS: Genome-wide scanning was performed using the Illumina Linkage-12 array. Genotyping of short tandem repeat markers was used to finely map the causative locus. Haplotype analysis and Sanger sequencing was performed to precisely locate the position and nature of the gene defect...
October 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27453960/a-multi-modal-intervention-for-activating-patients-at-risk-for-osteoporosis-apropos-rationale-design-and-uptake-of-online-study-intervention-material
#17
Maria I Danila, Ryan C Outman, Elizabeth J Rahn, Amy S Mudano, Tammi F Thomas, David T Redden, Jeroan J Allison, Fred A Anderson, Julia P Anderson, Peter M Cram, Jeffrey R Curtis, Liana Fraenkel, Susan L Greenspan, Andrea Z LaCroix, Sumit R Majumdar, Michael J Miller, Jeri W Nieves, Monika M Safford, Stuart L Silverman, Ethel S Siris, Daniel H Solomon, Amy H Warriner, Nelson B Watts, Robert A Yood, Kenneth G Saag
OBJECTIVE: To develop an innovative and effective educational intervention to inform patients about the need for osteoporosis treatment and to determine factors associated with its online uptake. METHODS: Postmenopausal women with a prior fracture and not currently using osteoporosis therapy were eligible to be included in the Activating Patients at Risk for OsteoPOroSis (APROPOS). Four nominal groups with a total of 18 racially/ethnically diverse women identified osteoporosis treatment barriers...
December 15, 2016: Contemporary Clinical Trials Communications
https://www.readbyqxmd.com/read/27409166/comprehensive-profiling-and-quantitation-of-oncogenic-mutations-in-non-small-cell-lung-carcinoma-using-single-molecule-amplification-and-re-sequencing-technology
#18
Shirong Zhang, Bing Xia, Hong Jiang, Limin Wang, Rujun Xu, Yanbin Shi, Jianguang Zhang, Mengnan Xu, David S Cram, Shenglin Ma
Activating and resistance mutations in the tyrosine kinase domain of several oncogenes are frequently associated with non-small cell lung carcinoma (NSCLC). In this study we assessed the frequency, type and abundance of EGFR, KRAS, BRAF, TP53 and ALK mutations in tumour specimens from 184 patients with early and late stage disease using single molecule amplification and re-sequencing technology (SMART). Based on modelling of EGFR mutations, the detection sensitivity of the SMART assay was at least 0.1%. Benchmarking EGFR mutation detection against the gold standard ARMS-PCR assay, SMART assay had a sensitivity and specificity of 98...
August 2, 2016: Oncotarget
https://www.readbyqxmd.com/read/27274452/two-stage-revision-anterior-cruciate-ligament-reconstruction-bone-grafting-technique-using-an-allograft-bone-matrix
#19
Jorge Chahla, Chase S Dean, Tyler R Cram, David Civitarese, Luke O'Brien, Samuel G Moulton, Robert F LaPrade
Outcomes of primary anterior cruciate ligament (ACL) reconstruction have been reported to be far superior to those of revision reconstruction. However, as the incidence of ACL reconstruction is rapidly increasing, so is the number of failures. The subsequent need for revision ACL reconstruction is estimated to occur in up to 13,000 patients each year in the United States. Revision ACL reconstruction can be performed in one or two stages. A two-stage approach is recommended in cases of improper placement of the original tunnels or in cases of unacceptable tunnel enlargement...
February 2016: Arthroscopy Techniques
https://www.readbyqxmd.com/read/27167073/clinical-application-of-next-generation-sequencing-in-preimplantation-genetic-diagnosis-cycles-for-robertsonian-and-reciprocal-translocations
#20
Wenke Zhang, Ying Liu, Li Wang, Hui Wang, Minyue Ma, Mengnan Xu, Xiaofei Xu, ZhiYing Gao, Jinliang Duan, David S Cram, Yuanqing Yao
PURPOSE: The purpose of this study was to apply next-generation sequencing (NGS) technology to identify chromosomally normal embryos for transfer in preimplantation genetic diagnosis (PGD) cycles for translocations. METHODS: A total of 21 translocation couples with a history of infertility and repeated miscarriage presented at our PGD clinic for 24-chromosome embryo testing using copy number variation sequencing (CNV-Seq). RESULTS: Testing of 98 embryo samples identified 68 aneuploid (69...
July 2016: Journal of Assisted Reproduction and Genetics
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