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Digital disease detection

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https://www.readbyqxmd.com/read/29339441/allele-specific-droplet-digital-pcr-combined-with-a-next-generation-sequencing-based-algorithm-for-diagnostic-copy-number-analysis-in-genes-with-high-homology-proof-of-concept-using-stereocilin
#1
Sami S Amr, Elissa Murphy, Elizabeth Duffy, Rojeen Niazi, Jorune Balciuniene, Minjie Luo, Heidi L Rehm, Ahmad N Abou Tayoun
BACKGROUND: Copy number variants (CNVs) can substantially contribute to the pathogenic variant spectrum in several disease genes. The detection of this type of variant is complicated in genes with high homology to other genomic sequences, yet such genomics regions are more likely to lead to CNVs, making it critical to address detection in these settings. METHODS: We developed a copy number analysis approach for high homology genes/regions that consisted of next-generation sequencing (NGS)-based dosage analysis accompanied by allele-specific droplet digital PCR (ddPCR) confirmatory testing...
January 16, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29331255/an-automated-and-robust-image-processing-algorithm-for-glaucoma-diagnosis-from-fundus-images-using-novel-blood-vessel-tracking-and-bend-point-detection
#2
Soorya M, Ashish Issac, Malay Kishore Dutta
Glaucoma is an ocular disease which can cause irreversible blindness. The disease is currently identified using specialized equipment operated by optometrists manually. The proposed work aims to provide an efficient imaging solution which can help in automating the process of Glaucoma diagnosis using computer vision techniques from digital fundus images. The proposed method segments the optic disc using a geometrical feature based strategic framework which improves the detection accuracy and makes the algorithm invariant to illumination and noise...
February 2018: International Journal of Medical Informatics
https://www.readbyqxmd.com/read/29324546/applying-precision-medicine-to-ovarian-cancer-proof-of-principle-for-a-molecular-second-look
#3
Melissa Schwartz, Olga Camacho-Vanegas, Ashley M Wood, Matthew Dashkoff, Courtney Whitelock, Timothy T Harkins, Carmel J Cohen, Ann Marie Beddoe, Peter Dottino, John A Martignetti
OBJECTIVES: The objectives of this study were to assess if targeted investigation for tumor-specific mutations by ultradeep DNA sequencing of peritoneal washes of ovarian cancer patients after primary surgical debulking and chemotherapy, and clinically diagnosed as disease free, provides a more sensitive and specific method to assess actual treatment response and tailor future therapy and to compare this "molecular second look" with conventional cytology and histopathology-based findings...
January 10, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29322764/rapid-veterinary-diagnosis-of-bovine-reproductive-infectious-diseases-from-semen-using-paper-origami-dna-microfluidics
#4
Zhugen Yang, Gaolian Xu, Julien Reboud, Syed Atif Ali, Gurpreet Kaur, John McGiven, Nongthombam Boby, Praveen Gupta, Pallab Chaudhuri, Jonathan Mark Cooper
The health and well-being of cattle is a significant concern for global agricultural output. In dairy production within low and middle income countries (LMICs), there is a significant biosensing challenge in detecting sexually transmitted infection (STI) pathogens during animal husbandry, due in part to difficulties associated with the limited infrastructure for veterinary medicine. Here we demonstrate low-cost, multiplexed and sample-to-answer paper-origami tests for the detection of three bovine infectious reproductive diseases in semen samples, collected at a test site in rural India...
January 11, 2018: ACS Sensors
https://www.readbyqxmd.com/read/29321551/aster-leafhopper-survival-and-reproduction-and-aster-yellows-transmission-under-static-and-fluctuating-temperatures-using-ddpcr-for-phytoplasma-quantification
#5
Md H Bahar, Tyler J Wist, Diana R Bekkaoui, Dwayne D Hegedus, Chrystel Y Olivier
Aster yellows (AY) is an important disease of Brassica crops and is caused by Candidatus Phytoplasma asteris and transmitted by the insect vector, Aster leafhopper (Macrosteles quadrilineatus). Phytoplasma-infected Aster leafhoppers were incubated at various constant and fluctuating temperatures ranging from 0 to 35 °C with the reproductive host plant barley (Hordium vulgare). At 0 °C, leafhopper adults survived for 18 days, but failed to reproduce, whereas at 35 °C insects died within 18 days, but successfully reproduced before dying...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29318442/an-exudate-detection-method-for-diagnosis-risk-of-diabetic-macular-edema-in-retinal-images-using-feature-based-and-supervised-classification
#6
D Marin, M E Gegundez-Arias, B Ponte, F Alvarez, J Garrido, C Ortega, M J Vasallo, J M Bravo
The present paper aims at presenting the methodology and first results of a detection system of risk of diabetic macular edema (DME) in fundus images. The system is based on the detection of retinal exudates (Ex), whose presence in the image is clinically used for an early diagnosis of the disease. To do so, the system applies digital image processing algorithms to the retinal image in order to obtain a set of candidate regions to be Ex, which are validated by means of feature extraction and supervised classification techniques...
January 10, 2018: Medical & Biological Engineering & Computing
https://www.readbyqxmd.com/read/29317041/contrast-enhanced-spectral-mammography-a-review
#7
Bhavika K Patel, M B I Lobbes, John Lewin
Contrast-enhanced spectral mammography (CESM) provides low-energy 2D mammographic images comparable to standard digital mammography and a post-contrast recombined image to assess tumor neovascularity similar to magnetic resonance imaging (MRI). The utilization of CESM in the United States is currently low but could increase rapidly given many potential indications for clinical use. This article discusses historical background and literature review of indications and diagnostic accuracy of CESM to date. CESM is a growing technique for breast cancer detection and diagnosis that has levels of sensitivity and specificity on par with contrast-enhanced breast MRI...
February 2018: Seminars in Ultrasound, CT, and MR
https://www.readbyqxmd.com/read/29306490/virtual-zika-transmission-after-the-first-u-s-case-who-said-what-and-how-it-spread-on-twitter
#8
Santosh Vijaykumar, Glen Nowak, Itai Himelboim, Yan Jin
BACKGROUND: This paper goes beyond detecting specific themes within Zika-related chatter on Twitter, to identify the key actors who influence the diffusive process through which some themes become more amplified than others. METHODS: We collected all Zika-related tweets during the 3 months immediately after the first U.S. case of Zika. After the tweets were categorized into 12 themes, a cross-section were grouped into weekly datasets, to capture 12 amplifier/user groups, and analyzed by 4 amplification modes: mentions, retweets, talkers, and Twitter-wide amplifiers...
January 4, 2018: American Journal of Infection Control
https://www.readbyqxmd.com/read/29303799/open-access-electronic-diary-for-motor-fluctuation-and-dyskinesia-evaluation-in-parkinson-disease-comparison-with-paper-diary
#9
Cinthia Terroba-Chambi, Veronica Bruno, Alex Medina-Escobar, Federico Nanni, Daniel Cerquetti, Malco Rossi, Marcelo Merello
OBJECTIVE: To determine the utility of an electronic diary for registering motor fluctuations and dyskinesia in Parkinson disease (PD). METHODS: Free, open-access touch screen software suitable for Android 4.4 or higher, with medication alarms, adjustable intervals, and medication dose settings was developed to evaluate ON-OFF periods and dyskinesia. Prospective evaluation included a first phase conducted to make adjustments concerning motor limitations when using the tablet, as well as for proper motor complication identification, and a second phase of 3 days of use at home with a prior diary training session comparing a modified paper version of Core Assessment Program for Surgical Interventional Therapies in PD and the electronic diary...
January 5, 2018: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/29296946/latent-human-cytomegalovirus-enhances-hiv-1-infection-in-cd34-progenitor-cells
#10
Allen Ka Loon Cheung, Yiru Huang, Hau Yee Kwok, Min Chen, Zhiwei Chen
Individuals who have been preinfected by human cytomegalovirus (HCMV) are more prone to AIDS disease progression after subsequent HIV-1 infection but the underlying mechanism remains elusive. HCMV is a ubiquitous DNA virus that commonly establishes lifelong latent infection in CD34+ progenitor cells, where latency-specific HCMV genes may modulate host restriction to HIV-1 infection. To test this hypothesis, we studied progenitor cells that are known to resist replicative HIV-1 infection because of the intrinsic expression of host restriction factors...
January 24, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296825/disease-severity-and-slower-psychomotor-speed-in-adults-with-sickle-cell-disease
#11
Dana R Jorgensen, Andrea Metti, Meryl A Butters, Joseph M Mettenburg, Caterina Rosano, Enrico M Novelli
Psychomotor slowing is common in children with sickle cell disease (SCD), but little is known about its severity in adults. We conducted a cross-sectional study to quantify psychomotor speed, measured with the digit symbol substitution test (DSST), in relationship with disease severity in adults with SCD attending an outpatient clinic (n = 88, age 36.3 years). Genotype was used to group patients in "severe" (homozygous for hemoglobin S or compound heterozygous with β0 thalassemia) or "moderate" groups (compound heterozygous for HbS, with either HbC or β+ thalassemia)...
September 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29290998/detection-of-somatic-variants-and-egfr-mutations-in-cell-free-dna-from-non-small-cell-lung-cancer-patients-by-ultra-deep-sequencing-using-the-ion-ampliseq-cancer-hotspot-panel-and-droplet-digital-polymerase-chain-reaction
#12
Jae Sook Sung, Hyon Yong Chong, Nak-Jung Kwon, Hae Mi Kim, Jong Won Lee, Boyeon Kim, Saet Byeol Lee, Chang Won Park, Jung Yoon Choi, Won Jin Chang, Yoon Ji Choi, Sung Yong Lee, Eun Joo Kang, Kyong Hwa Park, Yeul Hong Kim
Highly sensitive genotyping assays can detect mutations in cell-free DNA (cfDNA) from cancer patients, reflecting the biology of each patient's cancer. Because circulating tumor DNA comprises a small, variable fraction of DNA circulating in the blood, sensitive parallel multiplexing tests are required to determine mutation profiles. We prospectively examined the clinical utility of ultra-deep sequencing analysis of cfDNA from 126 non-small cell lung cancer (NSCLC) patients using the Ion AmpliSeq Cancer Hotspot Panel v2 (ICP) and validated these findings with droplet digital polymerase chain reaction (ddPCR)...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29290257/primary-resistance-to-osimertinib-due-to-sclc-transformation-issue-of-t790m-determination-on-liquid-re-biopsy
#13
R Minari, P Bordi, M Del Re, F Facchinetti, F Mazzoni, F Barbieri, A Camerini, C E Comin, L Gnetti, C Azzoni, R Nizzoli, B Bortesi, E Rofi, P Petreni, N Campanini, G Rossi, R Danesi, M Tiseo
OBJECTIVES: EGFR T790M mutation is the most common mechanism of resistance to first-/second-generation EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC) and could be overcome by third-generation EGFR-TKIs, such as osimertinib. Liquid biopsy, a non-invasive technique used to test the presence of the resistant mutation, may help avoiding tissue re-biopsy. However, analysing only circulating-free DNA, information about other less frequent and coexisting resistance mechanisms may remain unrevealed...
January 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29282126/the-impact-of-a-single-round-of-community-mass-treatment-with-azithromycin-on-disease-severity-and-ocular-chlamydia-trachomatis-load-in-treatment-na%C3%A3-ve-trachoma-endemic-island-communities-in-west-africa
#14
Anna R Last, Sarah E Burr, Emma Harding-Esch, Eunice Cassama, Meno Nabicassa, Chrissy H Roberts, David C W Mabey, Martin J Holland, Robin L Bailey
BACKGROUND: Trachoma, a neglected tropical disease, is caused by ocular infection with Chlamydia trachomatis (Ct). The World Health Organization (WHO) recommends three annual rounds of community mass drug treatment with azithromycin (MDA) if the prevalence of follicular trachoma in 1-9 year olds (TF1-9) exceeds 10% at district level to achieve an elimination target of district-level TF1-9 below 5% after. To evaluate this strategy in treatment-naïve trachoma-endemic island communities in Guinea Bissau, we conducted a cross-sectional population-based trachoma survey on four islands...
December 28, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29279774/a-novel-white-blood-cells-segmentation-algorithm-based-on-adaptive-neutrosophic-similarity-score
#15
A I Shahin, Yanhui Guo, K M Amin, Amr A Sharawi
Background: White blood cells (WBCs) play a crucial role in the diagnosis of many diseases according to their numbers or morphology. The recent digital pathology equipments investigate and analyze the blood smear images automatically. The previous automated segmentation algorithms worked on healthy and non-healthy WBCs separately. Also, such algorithms had employed certain color components which leak adaptively with different datasets. Methods: In this paper, a novel segmentation algorithm for WBCs in the blood smear images is proposed using multi-scale similarity measure based on the neutrosophic domain...
December 2018: Health Information Science and Systems
https://www.readbyqxmd.com/read/29279163/diagnostic-properties-of-the-spiquestionnaire-to-detect-posterior-circumflex-humeral-artery-disease-in-elite-volleyball-players-a-cross-sectional-study
#16
Olivier V A Bouwmeester, Daan van de Pol, P Paul F M Kuijer, R Nils Planken, Aart Terpstra, Marja Pannekoek-Hekman, Sena Alaeikhanehshir, Mario Maas
OBJECTIVES: Sports related aneurysmal degeneration and thrombosis of the Posterior Circumflex Humeral Artery (PCHA) has been known to cause symptoms of digital ischemia (DI) in elite volleyball players. Studies have reported symptoms of DI in as much as 28% of the elite indoor volleyball players. The purpose of this study was to determine the diagnostic value of the Shoulder PCHA Pathology and digital Ischemia - Questionnaire (SPI-Q) for detection of sports related PCHA disease using ultrasound data as the standard of reference...
January 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29278786/high-throughput-and-accurate-serum-proteome-profiling-by-integrated-sample-preparation-technology-and-single-run-data-independent-mass-spectrometry-analysis
#17
Lin Lin, Jiaxin Zheng, Quan Yu, Wendong Chen, Jinchun Xing, Chenxi Chen, Ruijun Tian
Mass spectrometry (MS)-based serum proteome analysis is extremely challenging due to its high complexity and dynamic range of protein abundances. Developing high throughput and accurate serum proteomic profiling approach capable of analyzing large cohorts is urgently needed for biomarker discovery. Herein, we report a streamlined workflow for fast and accurate proteomic profiling from 1μL of blood serum. The workflow combined an integrated technique for highly sensitive and reproducible sample preparation and a new data-independent acquisition (DIA)-based MS method...
December 23, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/29274107/tumor-associated-cd204-m2-macrophages-is-an-unfavorable-prognosticator-in-uterine-cervical-adenocarcinoma
#18
Asuka Kawachi, Hiroshi Yoshida, Shigehisa Kitano, Yoshinori Ino, Tomoyasu Kato, Nobuyoshi Hiraoka
Uterine cervical adenocarcinoma is rare, but its prevalence has increased. To improve outcomes and ensure the suitability of recent immunotherapies, the aim of the study was to evaluate the clinicopathological impact of the tumor immune microenvironment of uterine cervical adenocarcinoma. We investigated 148 adenocarcinoma cases, including 21 cases of adenocarcinoma in situ (AIS) and 127 cases of invasive adenocarcinoma, using immunohistochemistry to detect tumor-infiltrating immune cells and the expression of PD-L1 and p16 on tumor cells, and we then conducted correlation and survival analyses...
December 22, 2017: Cancer Science
https://www.readbyqxmd.com/read/29260556/digital-single-virus-electrochemical-enzyme-linked-immunoassay-for-ultrasensitive-h7n9-avian-influenza-virus-counting
#19
Zhen Wu, Wen-Jing Guo, Yi-Yan Bai, Li Zhang, Jiao Hu, Dai-Wen Pang, Zhi-Ling Zhang
Electrochemistry has been widely used to explore fundamental properties of single molecules due to its fast response and high specificity. However, the lack of efficient signal amplification strategies and quantitative method limit its clinical application. Here, we proposed a digital single virus electrochemical enzyme-linked immunoassay (digital ELISA) for H7N9 avian influenza virus (H7N9 AIV) counting by integration of digital analysis, bifunctional fluorescence magnetic nanospheres (bi-FMNs) with monolayer gold nanoparticles (Au NPs) modified microelectrode array (MA)...
December 20, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/29240347/genomic-data-into-everyday-work-of-a-medical-practitioner-digital-tools-for-decision-making
#20
Sakari Jokiranta, Kristina Hotakainen, Iiris Salonen, Pasi Pöllänen, Kai-Petri Hänninen, Jari Forsström, Ilkka Kunnamo
Recent technological development has enabled fast and cost-effective simultaneous analyses of several gene variants or sequence of even the whole genome. For medical practitioners this has created challenges although genomic information may be clinically useful in new applications such as finding out individual risk for diseases influenced by as many as 50,000 variable DNA regions or in detecting pharmacogenetic risks prior to prescribing a medicine. New digital tools have paved the way for utilization of genomic data via easy access and clear clinical interpretation for both doctor and patient...
2017: Duodecim; Lääketieteellinen Aikakauskirja
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