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https://www.readbyqxmd.com/read/28640831/ribosomal-dna-copy-number-loss-and-sequence-variation-in-cancer
#1
Baoshan Xu, Hua Li, John M Perry, Vijay Pratap Singh, Jay Unruh, Zulin Yu, Musinu Zakari, William McDowell, Linheng Li, Jennifer L Gerton
Ribosomal DNA is one of the most variable regions in the human genome with respect to copy number. Despite the importance of rDNA for cellular function, we know virtually nothing about what governs its copy number, stability, and sequence in the mammalian genome due to challenges associated with mapping and analysis. We applied computational and droplet digital PCR approaches to measure rDNA copy number in normal and cancer states in human and mouse genomes. We find that copy number and sequence can change in cancer genomes...
June 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28630377/effects-of-cognitive-reserve-depend-on-executive-and-semantic-demands-of-the-task
#2
R Ryan Darby, Michael Brickhouse, David A Wolk, Bradford C Dickerson
BACKGROUND: Cognitive reserve (CR) is one factor that helps to maintain cognitive function in patients with Alzheimer's disease (AD). Whether the effects of CR depend on the semantic/executive components of the task remains unknown. METHODS: 470 patients (138 with AD, 332 with mild cognitive impairment (MCI)) were selected from the Alzheimer's Disease Neuroimaging Initiative database. Linear regression models were used to determine the effects of CR (years of education) on cognitive performance after controlling for demographic factors and regional cortical atrophy...
June 19, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28629339/droplet-digital-pcr-for-detection-and-quantification-of-circulating-tumor-dna-in-plasma-of-head-and-neck-cancer-patients
#3
Joost H van Ginkel, Manon M H Huibers, Robert J J van Es, Remco de Bree, Stefan M Willems
BACKGROUND: During posttreatment surveillance of head and neck cancer patients, imaging is insufficiently accurate for the early detection of relapsing disease. Free circulating tumor DNA (ctDNA) may serve as a novel biomarker for monitoring tumor burden during posttreatment surveillance of these patients. In this exploratory study, we investigated whether low level ctDNA in plasma of head and neck cancer patients can be detected using Droplet Digital PCR (ddPCR). METHODS: TP53 mutations were determined in surgically resected primary tumor samples from six patients with high stage (II-IV), moderate to poorly differentiated head and neck squamous cell carcinoma (HNSCC)...
June 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28625643/sequential-liquid-biopsies-reveal-dynamic-alterations-of-egfr-driver-mutations-and-indicate-egfr-amplification-as-a-new-mechanism-of-resistance-to-osimertinib-in-nsclc
#4
Franciele H Knebel, Fabiana Bettoni, Andrea K Shimada, Manoel Cruz, João Victor Alessi, Marcelo V Negrão, Luiz Fernando L Reis, Artur Katz, Anamaria A Camargo
Osimertinib is an EGFR-T790M-specific TKI, which has demonstrated impressive response rates in NSCLC, after failure to first-line anti-EGFR TKIs. However, acquired resistance to osimertinib is also observed and the molecular mechanisms of resistance are not yet fully understood. Monitoring and managing NSCLC patients who progressed on osimertinib is, therefore, emerging as an important clinical challenge. Sequential liquid biopsies were used to monitor a patient with EGFR-exon19del positive NSCLC, who received erlotinib and progressed through the acquisition of the EGFR-T790M mutation...
June 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28593555/genetic-analysis-of-irf6-a-gene-involved-in-craniofacial-midline-formation-in-relation-to-pituitary-and-facial-morphology-of-patients-with-idiopathic-growth-hormone-deficiency
#5
Eline Starink, Anita C S Hokken-Koelega, Theo J Visser, Janneke Baan, Robin P Peeters, Laura C G de Graaff
INTRODUCTION: Growth hormone is secreted by the pituitary gland, which forms part of the craniofacial midline. IRF6 encodes a transcription factor involved in the development of the craniofacial midline and mutations in IRF6 are known to disturb craniofacial development. Craniofacial and pituitary development are closely related. After whole exome sequencing revealed a new mutation in IRF6 in a family with Idiopathic Growth Hormone Deficiency (IGHD), we screened the remainder of our IGHD cohort for mutations in this gene and related their genotypes to pituitary and craniofacial morphology...
June 7, 2017: Pituitary
https://www.readbyqxmd.com/read/28592136/relationship-of-depression-with-executive-functions-and-visuospatial-memory-in-elderly
#6
Monika Klojčnik, Voyko Kavcic, Karin Bakracevic Vukman
Cognitive deficits are a potential part of the clinical picture of depression, especially when it comes to late-life depression. The present study was carried out to establish whether distinctive cognitive deficiencies can be linked with depression in the late-life period, especially in executive functioning, working memory, and visuospatial memory. Our sample consisted of 71 seniors in the age range between 69 and 85 years. A battery of neurocognitive tests was used, including tests of executive functioning (Trail Making Test [TMT], part B, Stroop color word test, semantic word fluency test, and partially Rey-Osterrieth Complex Figure test [ROCF]), tests of attention and working memory (TMT, part A and digit span), and test of visuospatil ability and memory (ROCF)...
January 1, 2017: International Journal of Aging & Human Development
https://www.readbyqxmd.com/read/28579482/precuneus-degeneration-and-isolated-apathy-in-patients-with-parkinson-s-disease
#7
Jung Hwan Shin, Seong A Shin, Jee-Young Lee, Hyunwoo Nam, Jae-Sung Lim, Yu Kyeong Kim
INTRODUCTION: To investigate isolated apathy in a set of consecutively enrolled Parkinson's disease (PD) patients without dementia, depression, and significant motor response fluctuations, by conducting neuropsychological and neuroimaging analyses. METHODS: One hundred twenty-four patients were eligible for inclusion in this study. Clinical information and data were collected from a predefined neuropsychological test battery, including the mini-mental status examination, apathy scale, geriatric depression scale, digit span test, Boston naming test, Seoul verbal learning test, controlled oral word association test, go-no-go test, and the Rey figure copy test...
June 1, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28569447/marginal-accuracy-and-internal-fit-of-dental-copings-fabricated-by-modern-additive-and-subtractive-digital-technologies
#8
Neha Nelson, Jyothi K S, Kiran Sunny
The margins of copings for crowns and retainers of fixed partial dentures affect the progress of microleakage and dental caries. Failures occur due to altered fit which is also influenced by the method of fabrication. An in-vitro study was conducted to determine among the cast base metal, copy milled zirconia, computer aided designing computer aided machining/manufacturing zirconia and direct metal laser sintered copings which showed best marginal accuracy and internal fit. Forty extracted maxillary premolars were mounted on an acrylic model and reduced occlusally using a milling machine up to a final tooth height of 4 mm from the cementoenamel junction...
March 2017: European Journal of Prosthodontics and Restorative Dentistry
https://www.readbyqxmd.com/read/28553791/the-impact-of-three-cognitive-training-interventions-on-older-adults-physical-functioning-across-5-years
#9
Lesley A Ross, Briana N Sprague, Christine B Phillips, Melissa L O'Connor, Joan E Dodson
OBJECTIVE: Physical functioning is closely associated with cognition. The current study assessed the impact of three cognitive training programs on objective measures of physical functioning across 5 years. METHOD: Older adults randomized to a processing speed ( n = 702), reasoning ( n = 694), or memory ( n = 703) training intervention were compared with those randomized to a no-contact control condition ( n = 698). Intention-to-treat (ITT) and treatment-received/dosage (time-varying number of training sessions) analyses were conducted...
December 1, 2016: Journal of Aging and Health
https://www.readbyqxmd.com/read/28551263/identification-of-a-chicken-gallus-gallus-endogenous-reference-gene-actb-and-its-application-in-meat-adulteration
#10
Wenjin Xiang, Ying Shang, Qin Wang, Yuancong Xu, Pengyu Zhu, Kunlun Huang, Wentao Xu
The genes commonly used to determine meat species are mainly mitochondrial, but the copy numbers of such genes are high, meaning they cannot be accurately quantified. In this paper, for the first time, the chromosomal gene Actb was selected as an endogenous reference gene for chicken species. It was assayed in four different chicken varieties and 16 other species using both qualitative and quantitative PCR. No amplification of the Actb gene was found in species other than chicken and no allelic variations were detected in chicken...
November 1, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28539665/copy-number-variants-and-candidate-gene-mutations-in-isolated-split-hand-foot-malformation
#11
Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25 SHFM cases without other birth defects from New York State (NYS), prioritized CNVs absent from population CNV databases, and validated these CNVs using quantitative real-time polymerase chain reaction (qPCR). We tested for the validated CNVs in seven cases from Iowa using qPCR, and also sequenced 36 SHFM candidate genes in all the subjects...
May 25, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28539377/dietary-starch-intake-modifies-the-relation-between-copy-number-variation-in-the-salivary-amylase-gene-and-bmi
#12
Gull Rukh, Ulrika Ericson, Johanna Andersson-Assarsson, Marju Orho-Melander, Emily Sonestedt
Background: Studies have shown conflicting associations between the salivary amylase gene (AMY1) copy number and obesity. Salivary amylase initiates starch digestion in the oral cavity; starch is a major source of energy in the diet.Objective: We investigated the association between AMY1 copy number and obesity traits, and the effect of the interaction between AMY1 copy number and starch intake on these obesity traits.Design: We first assessed the association between AMY1 copy number (genotyped by digital droplet polymerase chain reaction) and obesity traits in 4800 individuals without diabetes (mean age: 57 y; 60% female) from the Malmö Diet and Cancer Cohort...
May 24, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28537806/analytic-and-clinical-validation-of-an-ultrasensitive-quantitative-polymerase-chain-reaction-assay-for-egfr-mutation-analysis-with-circulating-tumor-dna
#13
Xiaowei Wang, Yunhua Gao, Bei Wang, Zhenrong Zhang, Chaoyang Liang, Hongxiang Feng, Yongqing Guo, Jiping Da, Minli Mo, Mengyun Zhang, Feng Ding, Zhao Chen, Hui Li, Deruo Liu
CONTEXT: - The mutation analysis of epidermal growth factor receptor (EGFR) has become a common test to guide therapeutic decision making for lung cancer. Molecular testing with circulating tumor DNA in plasma allows diagnosis of mutations when tumor tissue is not available as well as monitoring treatment response with repeat biopsies. OBJECTIVES: - To develop a timely and cost-effective assay that can accurately detect EGFR mutations in circulating tumor DNA and to evaluate the analytic and clinical performance of the assay...
May 24, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28535331/computer-and-mobile-technology-interventions-for-self-management-in-chronic-obstructive-pulmonary-disease
#14
REVIEW
Catherine McCabe, Margaret McCann, Anne Marie Brady
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterised by airflow obstruction due to an abnormal inflammatory response of the lungs to noxious particles or gases, for example, cigarette smoke. The pattern of care for people with moderate to very severe COPD often involves regular lengthy hospital admissions, which result in high healthcare costs and an undesirable effect on quality of life. Research over the past decade has focused on innovative methods for developing enabling and assistive technologies that facilitate patient self-management...
May 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28522907/droplet-digital-pcr-for-quantification-of-itga6-in-a-stool-mrna-assay-for-the-detection-of-colorectal-cancers
#15
Elizabeth Herring, Shigeru Kanaoka, Éric Tremblay, Jean-François Beaulieu
AIM: To investigate the use of droplet digital polymerase chain reaction (ddPCR) for detecting host mRNA markers in stools as a non-invasive test for colorectal cancer screening. METHODS: ddPCR and quantitative PCR were compared side by side for their performance in the detection of ITGA6 and ITGA6A transcripts in stool samples obtained from patients with various types of colorectal lesions (advanced adenomas and stage II-IV colorectal cancers) and control (patients displaying no pathological findings) using duplex TaqMan reactions for both methods...
April 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28506959/health-related-internet-use-in-people-with-cancer-results-from-a-cross-sectional-study-in-two-outpatient-clinics-in-sweden
#16
Susanne Mattsson, Erik Martin Gustaf Olsson, Birgitta Johansson, Maria Carlsson
BACKGROUND: The access to various forms of support during the disease trajectory is crucial for people with cancer. The provision and use of Internet health services is increasing, and it is important to further investigate the preferences and demographical characteristics of its users. Investigating the uptake and perceived value of Internet health services is a prerequisite to be able to meet the needs in the targeted group. OBJECTIVE: The objective of this study was to investigate health-related Internet use among people with cancer...
May 15, 2017: Journal of Medical Internet Research
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
#17
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/28499138/human-pegivirus-1-in-the-csf-of-patients-with-hiv-associated-neurocognitive-disorder-hand-may-be-derived-from-blood-in-highly-viraemic-patients
#18
Diana Hardie, Heidi Smuts
BACKGROUND: Human pegivirus-1 (HPgV-1) infection in the brain has not been extensively examined and its association with disease remains unconfirmed. In a high throughput sequencing study to look for infectious agents that could play a role in HIV-associated neurocognitive disorder (HAND), this virus was detected in 3 of 8 CSF samples. OBJECTIVES: To determine the significance of this finding, additional patients were screened and the viral load and viral diversity in blood and CSF were examined...
April 6, 2017: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/28483527/immuno-pcr-with-digital-readout
#19
Hendrik Schröder, Maximilian Grösche, Michael Adler, Mark Spengler, Christof M Niemeyer
Immuno-PCR (IPCR) combines the versatile ELISA antigen detection with ultrasensitive PCR signal amplification, thereby enabling the highly sensitive detection of a broad range of targets with a typically very large dynamic detection range. The quantification of the antigen is usually achieved by real-time PCR, which provides a correlation between the target concentration and amplified DNA marker. We here report on the implementation of digital droplet PCR as a means for direct quantification of DNA copies to enable the highly sensitive detection of protein biomarkers...
May 5, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28481899/lumican-and-versican-protein-expression-are-associated-with-colorectal-adenoma-to-carcinoma-progression
#20
Meike de Wit, Beatriz Carvalho, Pien M Delis-van Diemen, Carolien van Alphen, Jeroen A M Beliën, Gerrit A Meijer, Remond J A Fijneman
BACKGROUND: One prominent event associated with colorectal adenoma-to-carcinoma progression is genomic instability. Approximately 85% of colorectal cancer cases exhibit chromosomal instability characterized by accumulation of chromosome copy number aberrations (CNAs). Adenomas with gain of chromosome 8q, 13q, and/or 20q are at high risk of progression to cancer. Tumor progression is also associated with expansion of the extracellular matrix (ECM) and the activation of non-malignant cells within the tumor stroma...
2017: PloS One
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