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Digital disease detection

Yanping Wang, Jin Li, Thomas F Kolon, Alicia Olivant Fisher, T Ernesto Figueroa, Ahmad H BaniHani, Jennifer A Hagerty, Ricardo Gonzalez, Paul H Noh, Rosetta M Chiavacci, Kisha R Harden, Debra J Abrams, Deborah Stabley, Cecilia E Kim, Katia Sol-Church, Hakon Hakonarson, Marcella Devoto, Julia Spencer Barthold
BACKGROUND: Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian population. METHODS: Genome wide genotyping were performed in 559 cases and 1772 controls (Group 1) using Illumina HumanHap550 v1, HumanHap550 v3 or Human610-Quad platforms and in 353 cases and 1149 controls (Group 2) using the Illumina Human OmniExpress 12v1 or Human OmniExpress 12v1-1...
October 21, 2016: BMC Urology
Huan-Ting Lin, Takashi Okumura, Yukinori Yatsuda, Satoru Ito, Hiromitsu Nakauchi, Makoto Otsu
Stable gene transfer into target cell populations via integrating viral vectors is widely used in stem cell gene therapy (SCGT). Accurate vector copy number (VCN) estimation has become increasingly important. However, existing methods of estimation such as real-time quantitative PCR are more restricted in practicality, especially during clinical trials, given the limited availability of sample materials from patients. This study demonstrates the application of an emerging technology called droplet digital PCR (ddPCR) in estimating VCN states in the context of SCGT...
October 2016: Human Gene Therapy Methods
Gang Wu, Jun Yang, Tianjing Zhang, John N Morelli, Shivraman Giri, Xiaoming Li, Wenlin Tang
BACKGROUND: The high incidence of renal insufficiency in patients with Peripheral Arterial Disease raises the concern for nephrogenic systemic fibrosis (NSF) with respect to contrast enhanced MRA. The risk of NSF is eliminated with non-contrast enhanced magnetic resonance angiography. The purpose of the current study is to compare image quality and diagnostic performance of non-contrast enhanced Quiescent Interval Single Shot (QISS) magnetic resonance angiography at 3 T versus CT angiography for evaluation of lower extremity Peripheral Arterial Disease (PAD)...
October 20, 2016: Journal of Cardiovascular Magnetic Resonance
Hongdo Do, Daniel Cameron, Ramyar Molania, Bibhusal Thapa, Gareth Rivalland, Paul L Mitchell, Carmel Murone, Thomas John, Anthony Papenfuss, Alexander Dobrovic
Identifying circulating tumour DNA (ctDNA) for monitoring of cancer therapy is dependent on the development of readily designed, sensitive cancer-specific DNA markers. Genomic rearrangements that are present in the vast majority of cancers provide such markers.Tumour DNA isolated from two fresh-frozen lung tumours underwent whole genome sequencing. Genomic rearrangements were detected using a new computational algorithm, GRIDSS. Four genomic rearrangements from each tumour were chosen for further study using rearrangement-specific primers...
2016: Advances in Experimental Medicine and Biology
Sarni Suhaila Rahim, Vasile Palade, James Shuttleworth, Chrisina Jayne
Digital retinal imaging is a challenging screening method for which effective, robust and cost-effective approaches are still to be developed. Regular screening for diabetic retinopathy and diabetic maculopathy diseases is necessary in order to identify the group at risk of visual impairment. This paper presents a novel automatic detection of diabetic retinopathy and maculopathy in eye fundus images by employing fuzzy image processing techniques. The paper first introduces the existing systems for diabetic retinopathy screening, with an emphasis on the maculopathy detection methods...
March 16, 2016: Brain Informatics
Stacy Loeb, Sanghyuk S Shin, Dennis L Broyles, John T Wei, Martin Sanda, George Klee, Alan W Partin, Lori Sokoll, Daniel W Chan, Chris H Bangma, Ron H N van Schaik, Kevin M Slawin, Leonard S Marks, William J Catalona
OBJECTIVE: To examine the use of the Prostate Health Index (phi)* as a continuous variable in multivariable risk assessment for aggressive prostate cancer in a large multicenter US study. MATERIALS AND METHODS: The study population included 728 men with PSA levels of 2-10 ng/mL and negative digital rectal examination enrolled in a prospective, multi-site early detection trial. The primary endpoint was aggressive prostate cancer, defined as biopsy Gleason score ≥7...
October 15, 2016: BJU International
John F Antiabong, Mafora G Ngoepe, Adakole S Abechi
AIM: The interpretation of conventional polymerase chain reaction (PCR) assay results is often limited to either positive or negative (non-detectable). The more robust quantitative PCR (qPCR) method is mostly reserved for quantitation studies and not a readily accessible technology in laboratories across developing nations. The aim of this study was to evaluate a semi-quantitative method for conventional PCR amplicons using digital image analysis of electrophoretic gel. The potential applications are also discussed...
September 2016: Veterinary World
Marta San Luciano, Cuiling Wang, Roberto A Ortega, Qiping Yu, Sarah Boschung, Jeannie Soto-Valencia, Susan B Bressman, Richard B Lipton, Seth Pullman, Rachel Saunders-Pullman
INTRODUCTION: Pre-clinical markers of Parkinson's Disease (PD) are needed, and to be relevant in pre-clinical disease, they should be quantifiably abnormal in early disease as well. Handwriting is impaired early in PD and can be evaluated using computerized analysis of drawn spirals, capturing kinematic, dynamic, and spatial abnormalities and calculating indices that quantify motor performance and disability. Digitized spiral drawing correlates with motor scores and may be more sensitive in detecting early changes than subjective ratings...
2016: PloS One
G Richtig, L Byrom, R Kupsa, H Schaider, R Hofmann-Wellenhof, I H Wolf, H P Soyer, E Richtig
Whether or not pregnancy favours the occurrence and growth of melanoma is a source of controversy in the literature. Several case reports have shown dramatic courses of diseases in pregnancy. We present a case of a 36-year-old woman with multiple naevi with one melanoma detected in 2009 in the first trimester and a second primary melanoma in 2010 in the third trimester of her pregnancy. Both lesions have been present for at least 5 years and have been interpreted as dysplastic naevi. Because of their growth during pregnancy they were removed...
October 8, 2016: British Journal of Dermatology
Zannis Almpanis, Maria Demonakou, Dina Tiniakos
Hepatic fibrogenesis may gradually result to cirrhosis due to the accumulation of extracellular matrix components as a response to liver injury. Thus, therapeutic decisions in chronic liver disease, regardless of the cause, should first and foremost be guided by an accurate quantification of hepatic fibrosis. Detection and assessment of the extent of hepatic fibrosis represent a challenge in modern Hepatology. Although traditional histological staging systems remain the "best standard", they are not able to quantify liver fibrosis as a dynamic process and may not accurately substage cirrhosis...
October 2016: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
Takahiro Kishikawa, Motoyuki Otsuka, Takeshi Yoshikawa, Motoko Ohno, Keisuke Yamamoto, Natsuyo Yamamoto, Ai Kotani, Kazuhiko Koike
Pancreatic ductal adenocarcinoma (Pdac) is a malignancy with a poor prognosis due to difficulties in early detection. Although promising biomarkers are increasingly reported, such methods are not yet easy to apply clinically, mainly due to their low reproducibility or technical difficulties. In this study, we developed a convenient and sensitive method for quantifying aberrantly expressed satellite repeat RNAs in sera, which can be used to efficiently detect patients with Pdac. Here, we introduce a Tandem Repeat Amplification by nuclease Protection (TRAP) method combined with droplet digital PCR (ddPCR) to detect human satellite II (HSATII) RNAs, which are specifically expressed in human Pdacs at greater levels than normal tissues but are difficult to measure due to their repetitive sequences and irregularities...
June 2, 2016: JCI Insight
Xinxiang Zhao, Yanglin Zhang, Yong Sun, Lin Sun, Renhui Cai
The aim of the present study was to investigate the correlation between the degree of coronary artery stenosis determined by digital subtraction angiography (DSA) and infarcted segments detected by delayed enhancement magnetic resonance imaging (DE-MRI). DE-MRI and DSA were performed in 40 patients with coronary artery disease. The number of myocardial segments with infarction, the transmural extent of myocardial infarction, score of myocardial infarction by MRI, degree of coronary artery stenosis and Gensini score of the coronary artery were assessed...
October 2016: Experimental and Therapeutic Medicine
Justine Ellen Marum, Susan Branford
Molecular monitoring plays an essential role in the clinical management of chronic myeloid leukemia (CML) patients, and now guides clinical decision making. Quantitative reverse-transcriptase-polymerase-chain-reaction (qRT-PCR) assessment of BCR-ABL1 transcript levels has become the standard of care protocol in CML. However, further developments are required to assess leukemic burden more efficiently, monitor minimal residual disease (MRD), detect mutations that drive resistance to tyrosine kinase inhibitor (TKI) therapy and identify predictors of response to TKI therapy...
October 2016: Therapeutic Advances in Hematology
Frank K Chen, Andre Luis de Castro Abreu, Suzanne L Palmer
Prostate cancer screening currently consists of serum prostate-specific antigen and digital rectal examination, followed by transrectal ultrasound-guided biopsy for diagnostic confirmation. Although the current paradigm of prostate cancer screening has led to a decrease in advanced disease and cancer-related mortality, these techniques have limitations in terms of sensitivity and specificity, resulting in missed cancers that are clinically significant and the overdetection of clinically insignificant cancers...
October 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
Philipp Lenz, Markus Brückner, Steffi Ketelhut, Jan Heidemann, Björn Kemper, Dominik Bettenworth
The incidence of inflammatory bowel disease, i.e., Crohn's disease and Ulcerative colitis, has significantly increased over the last decade. The etiology of IBD remains unknown and current therapeutic strategies are based on the unspecific suppression of the immune system. The development of treatments that specifically target intestinal inflammation and epithelial wound healing could significantly improve management of IBD, however this requires accurate detection of inflammatory changes. Currently, potential drug candidates are usually evaluated using animal models in vivo or with cell culture based techniques in vitro...
2016: Journal of Visualized Experiments: JoVE
L Palmeri, G Gradwohl, M Nitzan, E Hoffman, Y Adar, Y Shapir, R Koppel
OBJECTIVE: Fetal echocardiography, physical examination and pulse oximetry detect only half of coarctation of aorta (CoA) cases. We aimed to quantify delayed arrival and diminished amplitude of lower extremity photoplethysmographic (PPG) pulses relative to the right hand in affected patients. STUDY DESIGN: We studied 8 CoA infants and 32 healthy controls. The pulse arrival time difference between foot and hand (f-hTD) and pulse amplitude ratio (F/H) were measured on PPG signal waveforms by digitally-determining maxima and minima of systolic decrease of light transmission...
September 29, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
Katerina Placek, Lauren Massimo, Christopher Olm, Kylie Ternes, Kim Firn, Vivianna Van Deerlin, Edward B Lee, John Q Trojanowski, Virginia M-Y Lee, David Irwin, Murray Grossman, Corey T McMillan
OBJECTIVE: To evaluate if cognitive reserve (CR) contributes to interindividual differences in frontal gray matter density (GMD) and executive impairment that underlie heterogeneity in the disease course of confirmed frontotemporal lobar degeneration (FTLD) pathology. METHODS: Fifty-five patients with autopsy confirmation or a pathogenic mutation consistent with underlying tau (FTLD-tau) or TDP-43 (FTLD-TDP) pathology and 90 demographically comparable healthy controls were assessed with T1 MRI and neuropsychological measures (Mini-Mental State Examination, letter fluency, forward digit span, Rey complex figure, and Boston Naming Test)...
September 28, 2016: Neurology
S Pollett, W J Boscardin, E Azziz-Baumgartner, Y O Tinoco, G Soto, C Romero, J Kok, M Biggerstaff, C Viboud, G W Rutherford
BACKGROUND:  Latin America has a substantial burden of influenza and rising Internet access and could thus benefit from real-time influenza epidemic prediction web-tools such as Google Flu Trends (GFT) to assist in risk communication and resource allocation during epidemics. However, there has never been a published assessment of GFT's accuracy in most of the Latin American countries nor in any low-middle income country. We aimed to evaluate GFT in Argentina, Bolivia, Brazil, Chile, Mexico, Paraguay, Peru and Uruguay...
September 26, 2016: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
Talisa Ross, Kamran Ahmed, Nicholas Raison, Ben Challacombe, Prokar Dasgupta
INTRODUCTION: Prostate specific antigen is a marker for prostate cancer and a key diagnostic tool, yet when to refer patients with a borderline PSA is currently unclear. This review describes how to assess a patient with borderline PSA and provides an algorithm for management. METHODS: Current literature on reference values, factors affecting PSA, indications for referral, non-invasive investigations and the role of MRI were reviewed. Medline and EMBASE were searched using MeSH terms...
September 27, 2016: International Journal of Clinical Practice
Sinan Onal, Xin Chen, Veeresh Satamraju, Maduka Balasooriya, Humeyra Dabil-Karacal
Detecting the position of retinal structures, including the fovea center and macula, in retinal images plays a key role in diagnosing eye diseases such as optic nerve hypoplasia, amblyopia, diabetic retinopathy, and macular edema. However, current detection methods are unreliable for infants or certain ethnic populations. Thus, a methodology is proposed here that may be useful for infants and across ethnicities that automatically localizes the fovea center and segments the macula on digital fundus images. First, dark structures and bright artifacts are removed from the input image using preprocessing operations, and the resulting image is transformed to polar space...
July 2016: Journal of Medical Imaging
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