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Digital disease detection

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https://www.readbyqxmd.com/read/29156716/using-droplet-digital-pcr-to-analyze-mycn-and-alk-copy-number-in-plasma-from-patients-with-neuroblastoma
#1
Marco Lodrini, Annika Sprüssel, Kathy Astrahantseff, Daniela Tiburtius, Robert Konschak, Holger N Lode, Matthias Fischer, Ulrich Keilholz, Angelika Eggert, Hedwig E Deubzer
The invasive nature of surgical biopsies deters sequential application, and single biopsies often fail to reflect tumor dynamics, intratumor heterogeneity and drug sensitivities likely to change during tumor evolution and treatment. Implementing molecular characterization of cell-free neuroblastoma-derived DNA isolated from blood plasma could improve disease assessment for treatment selection and monitoring of patients with high-risk neuroblastoma. We established droplet digital PCR (ddPCR) protocols for MYCN and ALK copy number status in plasma from neuroblastoma patients...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156604/takamatsu-h-comparison-of-minimal-residual-disease-detection-by-multiparameter-flow-cytometry-aso-qpcr-droplet-digital-pcr-and-deep-sequencing-in-patients-with-multiple-myeloma-who-underwent-autologous-stem-cell-transplantation-j-clin-med-2017-6-91
#2
https://www.readbyqxmd.com/read/29152076/profiling-tumour-heterogeneity-through-circulating-tumour-dna-in-patients-with-pancreatic-cancer
#3
Patricia Adamo, Caroline M Cowley, Christopher P Neal, Vilas Mistry, Karen Page, Ashley R Dennison, John Isherwood, Robert Hastings, JinLi Luo, David A Moore, Pringle J Howard, Martins L Miguel, Catrin Pritchard, Margaret Manson, Jacqui A Shaw
The majority of pancreatic ductal adenocarcinomas (PDAC) are diagnosed late so that surgery is rarely curative. Earlier detection could significantly increase the likelihood of successful treatment and improve survival. The aim of the study was to provide proof of principle that point mutations in key cancer genes can be identified by sequencing circulating free DNA (cfDNA) and that this could be used to detect early PDACs and potentially, premalignant lesions, to help target early effective treatment. Targeted next generation sequencing (tNGS) analysis of mutation hotspots in 50 cancer genes was conducted in 26 patients with PDAC, 14 patients with chronic pancreatitis (CP) and 12 healthy controls with KRAS status validated by digital droplet PCR...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29151258/clinical-significance-of-disease-specific-myd88-mutations-in-circulating-dna-in-primary-central-nervous-system-lymphoma
#4
Keiichiro Hattori, Mamiko Sakata-Yanagimoto, Yasuhito Suehara, Yasuhisa Yokoyama, Takayasu Kato, Naoki Kurita, Hidekazu Nishikii, Naoshi Obara, Shingo Takano, Eiichi Ishikawa, Akira Matsumura, Yuichi Hasegawa, Shigeru Chiba
Recent sequencing studies demonstrated the MYD88 L265P mutation in more than 70% of primary central nervous system lymphomas (PCNSL), and the clinical significance of this mutation has been proposed as diagnostic and prognostic markers in PCNSL. On the other hand, mutational analyses using cell-free DNAs have been reported in a variety of systemic lymphomas. To investigate how sensitively the MYD88 L265P mutation can be identified in cell-free DNA from PCNSL patients, we performed droplet digital PCR (ddPCR) and targeted deep sequencing (TDS) in consecutive 14 PCNSL patients from whom paired tumor-derived DNA and cell-free DNA was available at diagnosis...
November 19, 2017: Cancer Science
https://www.readbyqxmd.com/read/29150366/optimal-ultrasound-criteria-for-grading-stenosis-of-the-superficial-femoral-artery
#5
Mingjie Gao, Yang Hua, Xinyu Zhao, Lingyun Jia, Jie Yang, Beibei Liu
This retrospective study determined the duplex ultrasound scanning criteria for detecting 50%-69% and 70%-99% stenosis of the superficial femoral artery (SFA). Examinations of 278 limbs in 185 patients with peripheral arterial disease were performed. Duplex ultrasound scanning was used to measure the diameter of the vascular lumen, the peak systolic velocity (PSV) at the stenotic segment of the SFA (PSVst), the segment proximal to the stenosis (PSVpro) and the popliteal artery (PSVpop, distal to the stenosis)...
November 14, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/29148297/detection-of-pseudorabies-virus-by-duplex-droplet-digital-pcr-assay
#6
Meishen Ren, Hua Lin, Shijie Chen, Miao Yang, Wei An, Yin Wang, Changhua Xue, Yinjie Sun, Yubao Yan, Juan Hu
Aujeszky's disease, caused by pseudorabies virus (PRV), has damaged the economy of the Chinese swine industry. A large number of PRV gene-deleted vaccines have been constructed based on deletion of the glycoprotein E ( gE) gene combined with other virulence-related gene deletions, such as thymidine kinase ( TK), whereas PRV wild-type strains contain an intact gE gene. We developed a sensitive duplex droplet digital PCR (ddPCR) assay to rapidly detect PRV wild-type isolates and gE gene-deleted viral vaccines...
November 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/29147913/expression-of-tlr7-tlr9-jak2-and-stat3-genes-in-peripheral-blood-mononuclear-cells-from-patients-with-systemic-sclerosis
#7
Miša Vreća, Ana Zeković, Nemanja Damjanov, Marina Andjelković, Milena Ugrin, Sonja Pavlović, Vesna Spasovski
Systemic sclerosis (SSc) is a rare, chronic, multisystem autoimmune disease clinically characterized by progressive fibrosis of the skin and internal organs. The basic mechanism appears to involve endothelial cell injury, overproduction of extracellular matrix proteins, and aberrant immune activation. So far, there have been a few attempts to find genetic biomarkers for monitoring disease activity or for correlation with certain symptoms. In order to reveal reliable biomarkers, we analyzed the expression of four genes representing three important signaling pathways, TLR7, TLR9, and JAK2-STAT3...
November 16, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29140939/infliximab-therapeutic-drug-monitoring-changes-clinical-decisions-in-a-virtual-biologics-clinic-for-inflammatory-bowel-disease
#8
Christian P Selinger, Marco V Lenti, Tanya Clark, Helen Rafferty, David Gracie, Alexander C Ford, Anthony OʼConnor, Tariq Ahmad, P John Hamlin
BACKGROUND: Virtual biologics clinics are often used to review patients with inflammatory bowel disease receiving biological therapy, with decisions whether to continue, switch, or stop therapy made based on review of symptoms, disease history, and investigations. We aimed to investigate whether therapeutic drug monitoring of infliximab (IFX) trough levels and anti-drug antibodies influences decision making within a virtual biologics clinic. METHODS: For all patients with inflammatory bowel disease receiving IFX maintenance therapy, 2 decisions were recorded in a preset format...
December 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29135135/-ultrasound-indicators-of-the-prostate-urinary-bladder-and-uroflowmetry-parameters-in-the-diagnosis-of-infravesical-obstruction-in-men-with-benign-prostatic-hyperplasia
#9
G G Krivoborodov, N S Efremov, A D Bolotov
RELEVANCE: Benign prostatic hyperplasia (BPH) is one of the most common urologic diseases of males. In patients who failed drug therapy of lower urinary tract symptoms (LUTS) caused by BPH, the most important indication for surgery is the presence of infravesical obstruction (IVO). IVO is detected by pressure-flow studies and is characterized by high detrusor pressure with decreased urinary flow rate. The invasiveness and high cost of this investigation has stimulated a search for non-invasive techniques that could reliably characterize the presence of IVO secondary to BPH...
October 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29131878/association-of-brain-structure-changes-and-cognitive-function-with-combination-antiretroviral-therapy-in-hiv-positive-individuals
#10
Ryan Sanford, Lesley K Fellows, Beau M Ances, D Louis Collins
Importance: Despite the introduction of combination antiretroviral therapy (cART), HIV-associated neurocognitive disorders continue to be a problem for treated HIV-positive individuals. The cause of this impairment remains unclear. Objective: To determine if detectable brain changes occur during a 2-year period in HIV-positive individuals who were aviremic and treated with cART. Design, Setting, and Participants: In this longitudinal case-control study, participants underwent neuroimaging and neuropsychological assessment approximately 2 years apart...
November 13, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29130947/application-of-digital-pcr-in-detecting-human-diseases-associated-gene-mutation
#11
Yu Tong, Shizhen Shen, Hui Jiang, Zhi Chen
Gene mutation has been considered a research hotspot, and the rapid development of biomedicine has enabled significant advances in the evaluation of gene mutations. The advent of digital polymerase chain reaction (dPCR) elevates the detection of gene mutations to unprecedented levels of precision, especially in cancer-associated genes. dPCR has been utilized in the detection of tumor markers in cell-free DNA (cfDNA) samples from patients with different types of cancer in samples such as plasma, cerebrospinal fluid, urine and sputum, which confers significant value for dPCR in both clinical applications and basic research...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29129921/towards-a-genomics-informed-real-time-global-pathogen-surveillance-system
#12
REVIEW
Jennifer L Gardy, Nicholas J Loman
The recent Ebola and Zika epidemics demonstrate the need for the continuous surveillance, rapid diagnosis and real-time tracking of emerging infectious diseases. Fast, affordable sequencing of pathogen genomes - now a staple of the public health microbiology laboratory in well-resourced settings - can affect each of these areas. Coupling genomic diagnostics and epidemiology to innovative digital disease detection platforms raises the possibility of an open, global, digital pathogen surveillance system. When informed by a One Health approach, in which human, animal and environmental health are considered together, such a genomics-based system has profound potential to improve public health in settings lacking robust laboratory capacity...
November 13, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29128996/e-derma-a-novel-wireless-dermatoscopy-system
#13
Bogdan Dugonik, A Dugonik, D Horvat, B Žalik, D Špelič
Cutaneous Melanoma (CM) is a malignant tumour, and is one of the most rapidly growing cancers. Discovering a melanoma in the early stages of the disease is extremely difficult and, as such, only an invasive disease stage can be identified easily with the naked eye. Dermatoscopy is a diagnostic method intended to maximise early detection of CM performed by the dermatoscopy system. To address the limitations of existing systems a novel, wireless digital dermatoscopy system is presented for providing high-resolution images...
November 11, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/29124453/a-machine-learning-ensemble-classifier-for-early-prediction-of-diabetic-retinopathy
#14
Somasundaram S K, Alli P
The main complication of diabetes is Diabetic retinopathy (DR), retinal vascular disease and it leads to the blindness. Regular screening for early DR disease detection is considered as an intensive labor and resource oriented task. Therefore, automatic detection of DR diseases is performed only by using the computational technique is the great solution. An automatic method is more reliable to determine the presence of an abnormality in Fundus images (FI) but, the classification process is poorly performed...
November 9, 2017: Journal of Medical Systems
https://www.readbyqxmd.com/read/29122835/multiple-hotspot-mutations-scanning-by-single-droplet-digital-pcr
#15
Charles Decraene, Amanda Silveira, François-Clément Bidard, Audrey Vallee, Marc Michel, Samia Melaabi, Anne Vincent-Salomon, Adrien Saliou, Alexandre Houy, Maud Milder, Olivier Lantz, Marc Ychou, Marc G Denis, Jean-Yves Pierga, Marc-Henri Stern, Charlotte Proudhon
BACKGROUND: Progress in the liquid biopsy field, combined with the development of droplet digital PCR (ddPCR)(12), has enabled noninvasive monitoring of mutations with high detection accuracy. However, current assays detect a restricted number of mutations per reaction. ddPCR is a recognized method for detecting alterations previously characterized in tumor tissues, but its use as a discovery tool when the mutation is unknown a priori remains limited. METHODS: We established 2 ddPCR assays detecting all genomic alterations within KRAS() exon 2 and EGFR exon 19 mutation hotspots, which are of clinical importance in colorectal and lung cancer, with use of a unique pair of TaqMan® oligoprobes...
November 9, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/29115895/droplet-based-digital-pcr-and-next-generation-sequencing-for-monitoring-circulating-tumor-dna-a-cancer-diagnostic-perspective
#16
Mathilde Postel, Alice Roosen, Pierre Laurent-Puig, Valerie Taly, Shu-Fang Wang-Renault
Early detection of cancers through the analysis of ctDNA could have a significant impact on morbidity and mortality of cancer patients. However, using ctDNA for early cancer diagnosis is challenging partly due to the low amount of tumor DNA released in the circulation and its dilution within DNA originating from non-tumor cells. Development of new technologies such as droplet-based digital PCR (ddPCR) or optimized next generation sequencing (NGS) has greatly improved the sensitivity, specificity and precision for the detection of rare sequences...
November 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29112704/circulating-tumor-dna-predicts-survival-in-patients-with-resected-high-risk-stage-ii-iii-melanoma
#17
R J Lee, G Gremel, A Marshall, K A Myers, N Fisher, J Dunn, N Dhomen, P G Corrie, M R Middleton, P Lorigan, R Marais
Background: Patients with high-risk stage II/III resected melanoma commonly develop distant metastases. At present, we cannot differentiate between patients who will recur or those who are cured by surgery. We investigated if circulating tumor DNA (ctDNA) can predict relapse and survival in patients with resected melanoma. Patients and methods: We performed droplet digital polymerase chain reaction to detect BRAF and NRAS mutations in plasma taken after surgery from 161 stage II/III high-risk melanoma patients enrolled in the AVAST-M adjuvant trial...
November 3, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29112643/assessment-of-fetal-congenital-heart-diseases-by-4-dimensional-ultrasound-using-spatiotemporal-image-correlation-pictorial-review
#18
Edward Araujo Júnior, Gabriele Tonni, Nathalie Jeanne Bravo-Valenzuela, Fabricio Da Silva Costa, Simon Meagher
The aim of this pictorial review is to describe the technical advances achieved through the application of 4-dimensional (4D) ultrasound using spatiotemporal image correlation (STIC) over conventional 2-dimensional ultrasound in the prenatal detection of congenital heart disease (CHD). Spatiotemporal image correlation is a volume imaging technique that simplifies fetal heart studies while providing more diagnostic information than is typically available from traditional 2-dimensional studies. Four-dimensional software allows the study of cardiac anatomy and function during a single cardiac cycle and has greatly contributed to diagnostic enhancement of CHD...
November 6, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29112469/risk-of-clinically-significant-prostate-cancer-associated-with-prostate-imaging-reporting-and-data-system-category-3-equivocal-lesions-identified-on-multiparametric-prostate-mri
#19
Alison D Sheridan, Sameer K Nath, Jamil S Syed, Sanjay Aneja, Preston C Sprenkle, Jeffrey C Weinreb, Michael Spektor
OBJECTIVE: The objective of this study is to determine the frequency of clinically significant cancer (CSC) in Prostate Imaging Reporting and Data System (PI-RADS) category 3 (equivocal) lesions prospectively identified on multiparametric prostate MRI and to identify risk factors (RFs) for CSC that may aid in decision making. MATERIALS AND METHODS: Between January 2015 and July 2016, a total of 977 consecutively seen men underwent multiparametric prostate MRI, and 342 underwent MRI-ultrasound (US) fusion targeted biopsy...
November 7, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29110585/cell-free-dna-levels-and-correlation-to-stage-and-outcome-following-treatment-of-locally-advanced-rectal-cancer
#20
Anders Kindberg Boysen, Yvonne Wettergren, Boe Sandahl Sorensen, Helena Taflin, Bengt Gustavson, Karen-Lise Garm Spindler
Accurate staging of rectal cancer remains essential for optimal patient selection for combined modality treatment, including radiotherapy, chemotherapy and surgery. We aimed at examining the correlation of cell free DNA with the pathologic stage and subsequent risk of recurrence for patients with locally advanced rectal cancer undergoing preoperative chemoradiation. We examined 75 patients with locally advanced rectal cancer receiving preoperative chemoradiation. Blood samples for translational use were drawn prior to rectal surgery...
November 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
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