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https://www.readbyqxmd.com/read/29353259/non-invasive-prenatal-testing-of-pregnancies-at-risk-for-phenylketonuria
#1
Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, David S Cram, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). METHODS: A total of 18 couples at genetic risk for having a child with PKU were recruited to the study. Gold standard invasive prenatal diagnosis (IPD) was performed on amniocyte or villus cell DNA by Sanger sequencing, targeting the known parental PAH mutations...
January 20, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29351578/circulating-tumor-dna-analyses-reveal-novel-resistance-mechanisms-to-cdk-inhibition-in-metastatic-breast-cancer
#2
Christopher Abbosh, Charles Swanton, Nicolai J Birkbak
No abstract text is available yet for this article.
January 17, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29351567/whole-thorax-irradiation-of-non-human-primates-induces-persistent-nuclear-damage-and-gene-expression-changes-in-peripheral-blood-cells
#3
Shanaz A Ghandhi, Helen C Turner, Igor Shuryak, Gregory O Dugan, J Daniel Bourland, John D Olson, Janet A Tooze, Shad R Morton, Ines Batinic-Haberle, J Mark Cline, Sally A Amundson
We investigated the cytogenetic and gene expression responses of peripheral blood cells of non-human primates (NHP, Macaca mulatta) that were whole-thorax irradiated with a single dose of 10 Gy. In this model, partial irradiation of NHPs in the thoracic region (Whole Thorax Lung Irradiation, WTLI) allows the study of late radiation-induced lung injury, while avoiding acute radiation syndromes related to hematopoietic and gastrointestinal injury. A transient drop in circulating lymphocytes and platelets was seen by 9 days, followed by elevations in respiratory rate, circulating neutrophils, lymphocytes, and monocytes at 60-100 days, corresponding to computed tomography (CT) and histologic evidence of pneumonitis, and elective euthanasia of four animals...
2018: PloS One
https://www.readbyqxmd.com/read/29348365/detection-and-localization-of-surgically-resectable-cancers-with-a-multi-analyte-blood-test
#4
Joshua D Cohen, Lu Li, Yuxuan Wang, Christopher Thoburn, Bahman Afsari, Ludmila Danilova, Christopher Douville, Ammar A Javed, Fay Wong, Austin Mattox, Ralph H Hruban, Christopher L Wolfgang, Michael G Goggins, Marco Dal Molin, Tian-Li Wang, Richard Roden, Alison P Klein, Janine Ptak, Lisa Dobbyn, Joy Schaefer, Natalie Silliman, Maria Popoli, Joshua T Vogelstein, James D Browne, Robert E Schoen, Randall E Brand, Jeanne Tie, Peter Gibbs, Hui-Li Wong, Aaron S Mansfield, Jin Jen, Samir M Hanash, Massimo Falconi, Peter J Allen, Shibin Zhou, Chetan Bettegowda, Luis Diaz, Cristian Tomasetti, Kenneth W Kinzler, Bert Vogelstein, Anne Marie Lennon, Nickolas Papadopoulos
Earlier detection is key to reducing cancer deaths. Here we describe a blood test that can detect eight common cancer types through assessment of the levels of circulating proteins and mutations in cell-free DNA. We applied this test, called CancerSEEK, to 1,005 patients with non-metastatic, clinically detected cancers of the ovary, liver, stomach, pancreas, esophagus, colorectum, lung, or breast. CancerSEEK tests were positive in a median of 70% of the eight cancer types. The sensitivities ranged from 69% to 98% for the detection of five cancer types (ovary, liver, stomach, pancreas, and esophagus) for which there are no screening tests available for average-risk individuals...
January 18, 2018: Science
https://www.readbyqxmd.com/read/29344968/a-novel-nested-polymerase-chain-reaction-assay-targeting-plasmodium-mitochondrial-dna-in-field-collected-anopheles-mosquitoes
#5
M Calzetta, E Perugini, G Seixas, C A Sousa, W M Guelbeogo, N Sagnon, A Della Torre, J Pinto, M Pombi, E Mancini
Sensitive techniques for the detection of Plasmodium (Aconoidasida: Plasmodiidae) sporozoites in field-collected malaria vectors are essential for the correct assessment of risk for malaria transmission. A real-time polymerase chain reaction (RT-PCR) protocol targeting Plasmodium mtDNA proved to be much more sensitive in detecting sporozoites in mosquitoes than the widely used enzyme-linked immunosorbent assay targeting Plasmodium circumsporozoite protein (CSP-ELISA). However, because of the relatively high costs associated with equipment and reagents, RT-PCRs are mostly used to assess the outcomes of experimental infections in the frame of research experiments, rather than in routine monitoring of mosquito infection in the field...
January 18, 2018: Medical and Veterinary Entomology
https://www.readbyqxmd.com/read/29343314/cell-free-dna-the-role-in-pathophysiology-and-as-a-biomarker-in-kidney-diseases
#6
Peter Celec, Barbora Vlková, Lucia Lauková, Janka Bábíčková, Peter Boor
Cell-free DNA (cfDNA) is present in various body fluids and originates mostly from blood cells. In specific conditions, circulating cfDNA might be derived from tumours, donor organs after transplantation or from the foetus during pregnancy. The analysis of cfDNA is mainly used for genetic analyses of the source tissue -tumour, foetus or for the early detection of graft rejection. It might serve also as a nonspecific biomarker of tissue damage in critical care medicine. In kidney diseases, cfDNA increases during haemodialysis and indicates cell damage...
January 18, 2018: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/29343260/liquid-biomarkers-in-melanoma-detection-and-discovery
#7
REVIEW
Su Yin Lim, Jenny H Lee, Russell J Diefenbach, Richard F Kefford, Helen Rizos
A vast array of tumor-derived genetic, proteomic and cellular components are constantly released into the circulation of cancer patients. These molecules including circulating tumor DNA and RNA, proteins, tumor and immune cells are emerging as convenient and accurate liquid biomarkers of cancer. Circulating cancer biomarkers provide invaluable information on cancer detection and diagnosis, prognosticate patient outcomes, and predict treatment response. In this era of effective molecular targeted treatments and immunotherapies, there is now an urgent need to implement use of these circulating biomarkers in the clinic to facilitate personalized therapy...
January 17, 2018: Molecular Cancer
https://www.readbyqxmd.com/read/29341153/circulating-tumour-cells-and-dna-as-liquid-biopsies-in-gastrointestinal-cancer
#8
REVIEW
O Nordgård, K Tjensvoll, B Gilje, K Søreide
BACKGROUND: Blood is the most extensively studied body fluid and, because it contains circulating tumour cells (CTCs) and circulating tumour-derived cell-free DNA (ctDNA), it may represent a liquid biopsy for cancer. Methods for enrichment and detection of CTCs and ctDNA, their clinical applications and future opportunities in gastrointestinal cancers were the focus of this review. METHODS: The PubMed database was searched for literature up to 24 June 2017, with a focus on the past 10 years...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29340881/circulating-free-dna-integrity-and-concentration-as-independent-prognostic-markers-in-metastatic-breast-cancer
#9
Jie Cheng, Tim Holland-Letz, Markus Wallwiener, Harald Surowy, Katarina Cuk, Sarah Schott, Andreas Trumpp, Klaus Pantel, Christof Sohn, Andreas Schneeweiss, Barbara Burwinkel
PURPOSE: Non-invasive blood-based molecular markers have been investigated for cancer diagnosis and prognosis. Circulating free or cell-free DNA (cfDNA) variables have been shown to be putative markers in breast cancer prognosis. METHODS: Here, we investigated the potential prognostic ability of cfDNA concentration and cfDNA integrity (cfDI) in a study cohort of 268 patients by quantitative PCR. We compared cfDNA concentration and cfDI at baseline and after one cycle of therapy in metastatic breast cancer (MBC) patients...
January 16, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29338737/transcriptome-profiling-of-whitefly-guts-in-response-to-tomato-yellow-leaf-curl-virus-infection
#10
Liang Geng, Li-Xin Qian, Ruo-Xuan Shao, Yin-Quan Liu, Shu-Sheng Liu, Xiao-Wei Wang
BACKGROUND: Plant viruses in agricultural crops are of great concern worldwide, and over 75% of them are transmitted from infected to healthy plants by insect vectors. Tomato yellow leaf curl virus (TYLCV) is a begomovirus, which is the largest and most economically important group of plant viruses, transmitted by the whitefly Bemisia tabaci. The circulation of TYLCV in the insect involves complex insect-virus interactions, whereas the molecular mechanisms of these interactions remain ambiguous...
January 16, 2018: Virology Journal
https://www.readbyqxmd.com/read/29335459/publisher-correction-discovery-of-targetable-genetic-alterations-in-advanced-non-small-cell-lung-cancer-using-a-next-generation-sequencing-based-circulating-tumor-dna-assay
#11
Helei Hou, Xiaonan Yang, Jinping Zhang, Zhe Zhang, Xiaomei Xu, Xiaoping Zhang, Chuantao Zhang, Dong Liu, Weihua Yan, Na Zhou, Hongmei Zhu, Zhaoyang Qian, Zhuokun Li, Xiaochun Zhang
A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29334709/-molecular-epidemiological-study-of-human-coronavirus-oc43-in-shanghai-from-2009-2016
#12
Y J Yang, Y W Hu
Objective: To understand the epidemiological characteristics of Human coronavirus (HCoV), the patterns of emergence and circulation, and the genotype distribution of human coronavirus OC43 (HCoV-OC43) from November, 2009 to April, 2016 in Shanghai. Methods: A total of 6 059 respiratory specimens, including pharyngeal swab, sputum, nasopharyngeal aspirates and alveolar lavage fluid, as well as relative clinical data were collected from patients with acute respiratory infections from seven sentinel hospitals during November, 2009 to April, 2016 in Shanghai...
January 6, 2018: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29331750/phosphoinositide-3-kinase-inhibitors-in-advanced-breast-cancer-a-systematic-review-and-meta-analysis
#13
REVIEW
Jacques Raphael, Danielle Desautels, Kathleen I Pritchard, Ekaterina Petkova, Prakeshkumar S Shah
Phosphoinositide 3-kinase (PI3K) inhibitors may overcome drug resistance and improve advanced breast cancer (ABC) outcomes. We conducted a systematic review and meta-analysis to assess the efficacy and safety of adding a PI3K inhibitor to the standard of care (SOC) treatment in ABC. The electronic databases Ovid, PubMed, Cochrane Central Register of Controlled Trials and Embase, were searched for relevant randomised trials. Pooled hazard ratios (HRs) for progression-free survival (PFS) and pooled risk ratios (RRs) for objective response rates (ORRs), disease control rates (DCRs) and toxicity were meta-analysed using the Mantel-Haenszel method and generic inverse variance...
January 10, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29330943/epigenetic-markers-in-circulating-cell-free-dna-as-prognostic-markers-for-survival-of-castration-resistant-prostate-cancer-patients
#14
Rianne J Hendriks, Siebren Dijkstra, Frank P Smit, Johan Vandersmissen, Hendrik Van de Voorde, Peter F A Mulders, Inge M van Oort, Wim Van Criekinge, Jack A Schalken
BACKGROUND: Noninvasive biomarkers to guide personalized treatment for castration-resistant prostate cancer (CRPC) are needed. In this study, we analyzed hypermethylation patterns of two genes (GSTP1 and APC) in plasma cell-free DNA (cfDNA) of CRPC patients. The aim of this study was to analyze the cfDNA concentrations and levels of the epigenetic markers and to assess the value of these biomarkers for prognosis. METHODS: In this prospective study, patients were included before starting new treatment after developing CRPC...
January 12, 2018: Prostate
https://www.readbyqxmd.com/read/29330384/detection-of-apparent-cell-free-m-tuberculosis-dna-from-plasma
#15
E S Click, W Murithi, G S Ouma, K McCarthy, M Willby, S Musau, H Alexander, E Pevzner, J Posey, K P Cain
New diagnostics are needed to improve clinicians' ability to detect tuberculosis (TB) disease in key populations such as children and persons living with HIV and to rapidly detect drug resistance. Circulating cell-free DNA (ccfDNA) in plasma is a diagnostic target in new obstetric and oncologic applications, but its utility for diagnosing TB is not known. Here we show that Mycobacterium tuberculosis complex DNA can be detected in plasma of persons with sputum smear-positive TB, even in the absence of mycobacteremia...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330207/early-assessment-of-lung-cancer-immunotherapy-response-via-circulating-tumor-dna
#16
Sarah B Goldberg, Azeet Narayan, Adam J Kole, Roy H Decker, Jimmitti Teysir, Nicholas J Carriero, Angela Lee, Roxanne Nemati, Sameer K Nath, Shrikant M Mane, Yanhong Deng, Nitin Sukumar, Daniel Zelterman, Daniel J Boffa, Katerina Politi, Scott Gettinger, Lynn D Wilson, Roy S Herbst, Abhijit A Patel
PURPOSE: Decisions to continue or suspend therapy with immune checkpoint inhibitors are commonly guided by tumor dynamics seen on serial imaging.  However, immunotherapy responses are uniquely challenging to interpret because tumors often shrink slowly or can appear transiently enlarged due to inflammation.  We hypothesized that monitoring tumor cell death in real-time by quantifying changes in circulating tumor DNA (ctDNA) levels could enable early assessment of immunotherapy efficacy...
January 12, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29329189/beta-cell-death-by-cell-free-dna-and-outcome-after-clinical-islet-transplantation
#17
Boris L Gala-Lopez, Daniel Neiman, Tatsuya Kin, Doug O'Gorman, Andrew R Pepper, Andrew J Malcolm, Sheina Pianzin, Peter A Senior, Patricia Campbell, Benjamin Glaser, Yuval Dor, Ruth Shemer, A M James Shapiro
BACKGROUND: Optimizing engraftment and early survival after clinical islet transplantation is critical to long-term function, but there are no reliable, quantifiable measures to assess beta cell death. Circulating cell free DNA (cfDNA) derived from beta cells has been identified as a novel biomarker to detect cell loss, and was recently validated in new-onset type 1 diabetes and in islet transplant patients. METHODS: Herein we report beta cell cfDNA measurements after allotransplantation in 37 subjects and the correlation with clinical outcomes...
January 11, 2018: Transplantation
https://www.readbyqxmd.com/read/29326081/macromolecule-nanotherapeutics-approaches-and-challenges
#18
REVIEW
Puneet Tyagi, Jose Luis Santos
With the advent of technology, newer forms of drugs, such as proteins, DNA, and RNA, have entered mainstream product development. However, systemic delivery of macromolecules is limited by rapid blood clearance, poor stability in vivo, and inadequate uptake by cells. Nanoparticle (NP)-based delivery systems have emerged as suitable carriers for overcoming such pharmacokinetic limitations of macromolecule delivery. Nanocarriers, such as liposomes, provide protection for sensitive drug materials and also enhance the circulation half-life of=therapeutics...
January 8, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29326054/size-based-separation-methods-of-circulating-tumor-cells
#19
Si-Jie Hao, Yuan Wan, Yi-Qiu Xia, Xin Zou, Si-Yang Zheng
Circulating tumor cells (CTCs) originate from the primary tumor mass and enter into the peripheral bloodstream. Compared to other "liquid biopsy" portfolios such as exosome, circulating tumor DNA/RNA (ctDNA/RNA), CTCs have incomparable advantages in analyses of transcriptomics, proteomics, and signal colocalization. Hence, CTCs hold the key to understanding the biology of metastasis and play a vital role in cancer diagnosis, treatment monitoring, and prognosis. Size-based enrichment featureS prominently in CTC isolation...
January 8, 2018: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/29324858/mapping-the-geographical-distribution-of-podoconiosis-in-cameroon-using-parasitological-serological-and-clinical-evidence-to-exclude-other-causes-of-lymphedema
#20
Kebede Deribe, Amuam Andrew Beng, Jorge Cano, Abdel Jelil Njouendo, Jerome Fru-Cho, Abong Raphael Awah, Mathias Esum Eyong, Patrick W Chounna Ndongmo, Emanuele Giorgi, David M Pigott, Nick Golding, Rachel L Pullan, Abdisalan M Noor, Fikre Enquselassie, Christopher J L Murray, Simon J Brooker, Simon I Hay, Peter Enyong, Melanie J Newport, Samuel Wanji, Gail Davey
BACKGROUND: Podoconiosis is a non-filarial elephantiasis, which causes massive swelling of the lower legs. It was identified as a neglected tropical disease by WHO in 2011. Understanding of the geographical distribution of the disease is incomplete. As part of a global mapping of podoconiosis, this study was conducted in Cameroon to map the distribution of the disease. This mapping work will help to generate data on the geographical distribution of podoconiosis in Cameroon and contribute to the global atlas of podoconiosis...
January 2018: PLoS Neglected Tropical Diseases
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