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Digital disease detection

Rajashri Abhay Kolte, Abhay Pandurang Kolte, Anushree Manohar Potey
Background: Osteoporosis is particularly high in females, the early identification of which remains a challenge. Panoramic radiographs are routinely advised to detect periodontal diseases and can be used to predict low bone mineral density (BMD). Hence, this investigation was aimed to identify the risk of osteoporosis in pre- and postmenopausal periodontally healthy and chronic periodontitis women with digital panoramic radiographs. Materials and Methods: The study population consisted of 120 patients equally divided as Group I - Premenopausal periodontally healthy, Group II - Premenopausal periodontitis, Group III - Postmenopausal periodontally healthy, and Group IV - Postmenopausal periodontitis...
November 2017: Journal of Indian Society of Periodontology
V Arantes, J Espinoza-Ríos
The incidence of esophageal cancer is steadily increasing worldwide. Outcome is poor, given that the majority of cases are diagnosed at advanced disease stages. However, when detected at early stages, esophageal tumors can be curatively treated through less invasive methods, resulting in a 5-year survival rate above 90%. Therefore, it is essential to identify the high-risk population and recommend those patients undergo screening using high-resolution endoscopy, adding the resources of chromoendoscopy with Lugol solution (or digital chromoendoscopy) and magnification...
March 15, 2018: Revista de Gastroenterología de México
Russell Ouellette, Åsa Bergendal, Sara Shams, Juha Martola, Caterina Mainero, Maria Kristoffersen Wiberg, Sten Fredrikson, Tobias Granberg
OBJECTIVE: To investigate the long-term progression of cognitive dysfunction and its neuroanatomical correlates and predictors in multiple sclerosis (MS). METHODS: A cohort of 37 MS patients reflecting five decades of disease duration and all subtypes was followed over 17.5 years. Matched controls were recruited at the last follow-up. Global cognitive functioning was assessed using a principal component cognitive index based on comprehensive neuropsychological testing...
March 6, 2018: Multiple Sclerosis and related Disorders
Fabrizio Pancaldi, Marco Sebastiani, Giulia Cassone, Fabrizio Luppi, Stefania Cerri, Giovanni Della Casa, Andreina Manfredi
The diagnosis of interstitial lung diseases in patients affected by rheumatoid arthritis is fundamental to improving their survival rate. In particular, the average survival time of patients affected by rheumatoid arthritis with pulmonary implications is approximately 3 years. The gold standard for confirming the diagnosis of this disease is computer tomography. However, it is very difficult to raise diagnosis suspicion because the symptoms of the disease are extremely common in elderly people. The detection of the so-called velcro crackle in lung sounds can effectively raise the suspicion of an interstitial disease and speed up diagnosis...
March 9, 2018: Computers in Biology and Medicine
Virendra Kumar, Girdhar S Bora, Rajeev Kumar, Naranamangalam R Jagannathan
Prostate cancer (PCa) is one of the most prevalent cancers in men. A large number of men are detected with PCa; however, the clinical behavior ranges from low-grade indolent tumors that never develop into a clinically significant disease to aggressive, invasive tumors that may rapidly progress to metastatic disease. The challenges in clinical management of PCa are at levels of screening, diagnosis, treatment, and follow-up after treatment. Magnetic resonance imaging (MRI) methods have shown a potential role in detection, localization, staging, assessment of aggressiveness, targeting biopsies, etc...
April 2018: Progress in Nuclear Magnetic Resonance Spectroscopy
G H Renier Botha, Grant Theron, Rob Warren, Marisa Klopper, Kheertan Dheda, Paul van Helden, Thomas R Niesler
Globally, tuberculosis (TB) remains one of the most deadly diseases. Although several effective diagnosis methods exist, in lower income countries clinics may not be in a position to afford expensive equipment and employ the trained experts needed to interpret results. In these situations, symptoms including cough are commonly used to identify patients for testing. However, self-reported cough has suboptimal sensitivity and specificity, which may be improved by digital detection. This study investigates a simple and easily applied method for TB screening based on the automatic analysis of coughing sounds...
March 15, 2018: Physiological Measurement
Orhan Beger, Uğur Dinç, Burhan Beger, Deniz Uzmansel, Zeliha Kurtoğlu
PURPOSE: The main objective of this study is to showcase the growth dynamics of levator scapulae, rhomboid major, and rhomboid minor algebraically, to help plan surgeries on newborns and young infants. METHODS: Twenty-five formalin-fixed fetuses (11 male-14 female) with a mean gestational age of 21.80 ± 2.61 (range 18-27) weeks present in the inventory of Mersin University Faculty of Medicine Anatomy Department were dissected. Surface area of levator scapulae, rhomboid major, and rhomboid minor was calculated using digital image analysis software; width and length parameters were measured using digital calipers...
March 15, 2018: Surgical and Radiologic Anatomy: SRA
Cosimo Cumbo, Luciana Impera, Crescenzio Francesco Minervini, Paola Orsini, Luisa Anelli, Antonella Zagaria, Nicoletta Coccaro, Giuseppina Tota, Angela Minervini, Paola Casieri, Claudia Brunetti, Antonella Russo Rossi, Elisa Parciante, Giorgina Specchia, Francesco Albano
For monitoring minimal residual disease (MRD) in chronic myeloid leukemia (CML) the most recommended method is quantitative RT-PCR (RT-qPCR) for measuring BCR-ABL1 transcripts. Several studies reported that a DNA-based assay enhances the sensitivity of detection of the BCR-ABL1 genomic rearrangement, even if its characterization results difficult. We developed a DNA-based method for detecting and quantifying residual BCR-ABL1 positive leukemic stem cells in CML patients. We propose two alternative approaches: the first one is a fluorescence in situ hybridization (FISH)-based step followed by Sanger sequencing; the second one employs MinION, a single molecule sequencer based on nanopore technology...
February 16, 2018: Oncotarget
Laura Lupini, Anna Moretti, Cristian Bassi, Alessio Schirone, Massimo Pedriali, Patrizia Querzoli, Roberta Roncarati, Antonio Frassoldati, Massimo Negrini
Approximately 70% of breast cancers (BCs) express estrogen receptor alpha (ERα) and are treated with endocrine therapy. However, the effectiveness of this therapy is limited by innate or acquired resistance in approximately one-third of patients. Activating mutations in the ESR1 gene that encodes ERα promote critical resistance mechanisms. Here, we developed a high sensitivity approach based on enhanced-ice-COLD-PCR for detecting ESR1 mutations. The method produced an enrichment up to 100-fold and allowed the unambiguous detection of ESR1 mutations even when they consisted of only 0...
March 12, 2018: Scientific Reports
Elena Pérez-Ruiz, Deborah Decrop, Karen Ven, Lisa Tripodi, Karen Leirs, Joelle Rosseels, Marlies van de Wouwer, Nick Geukens, Ann De Vos, Eugeen Vanmechelen, Joris Winderickx, Jeroen Lammertyn, Dragana Spasic
The close correlation between Tau pathology and Alzheimer's disease (AD) progression makes this protein a suitable biomarker for diagnosis and monitoring of the disorder evolution. However, the use of Tau in diagnostics has been hampered, as it currently requires collection of cerebrospinal fluid (CSF), which is an invasive clinical procedure. Although measuring Tau-levels in blood plasma would be favorable, the concentrations are below the detection limit of a conventional ELISA. In this work, we developed a digital ELISA for the quantification of attomolar protein Tau concentrations in both buffer and biological samples...
July 26, 2018: Analytica Chimica Acta
C B Thomsen, T F Hansen, R F Andersen, J Lindebjerg, L H Jensen, A Jakobsen
BACKGROUND: Precision medicine calls for an early indicator of treatment efficiency. Circulating tumor DNA (ctDNA) is a promising marker in this setting. Our prospective study explored the association between disease development and change of ctDNA during first line chemotherapy in patients with RAS/RAF mutated metastatic colorectal cancer (mCRC). METHODS: The study included 138 patients with mCRC receiving standard first line treatment. In patients with RAS/RAF mutated tumor DNA the same mutation was quantified in the plasma using droplet digital PCR...
March 12, 2018: Journal of Experimental & Clinical Cancer Research: CR
Menuka Pallebage-Gamarallage, Sean Foxley, Ricarda A L Menke, Istvan N Huszar, Mark Jenkinson, Benjamin C Tendler, Chaoyue Wang, Saad Jbabdi, Martin R Turner, Karla L Miller, Olaf Ansorge
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a clinically and histopathologically heterogeneous neurodegenerative disorder, in which therapy is hindered by the rapid progression of disease and lack of biomarkers. Magnetic resonance imaging (MRI) has demonstrated its potential for detecting the pathological signature and tracking disease progression in ALS. However, the microstructural and molecular pathological substrate is poorly understood and generally defined histologically...
March 13, 2018: BMC Neuroscience
Zhixiang Yan, Ru Yan
Maximizing the recovery of meaningful biological information can facilitate proteomics guided early detection and precise treatment of diseases. However, the conventional protein and peptide level targeted quantification of untargeted data independent acquisition (DIA) such as sequential window acquisition of all theoretical spectra (SWATH) is not necessarily descriptive of all information. Untargeted all-ion quantification theoretically could retrieve more features in SWATH digital maps by circumventing the initial identification process but is intrinsically susceptible to errors because of the extremely complexity of proteome samples and the poor selectivity of a single ion...
March 9, 2018: Analytical Chemistry
Francesco Passiglia, Sergio Rizzo, Christian Rolfo, Antonio Galvano, Enrico Bronte, Lorena Incorvaia, Angela Listi, Nadia Barraco, Marta Castiglia, Valentina Calo, Viviana Bazan, Antonio Russo
BACKGROUND: Recent studies evaluated the diagnostic accuracy of circulating tumor DNA (ctDNA) in the detection of epidermal growth factor receptor (EGFR) mutations from plasma of NSCLC patients, overall showing a high concordance as compared to standard tissue genotyping. However it is less clear if the location of metastatic site may influence the ability to identify EGFR mutations in plasma. OBJECTIVE: This pooled analysis aims to evaluate the association between the metastatic site location and the sensitivity of ctDNA analysis in detecting EGFR mutations in NSCLC patients...
March 8, 2018: Current Cancer Drug Targets
John Prince, Siddharth Arora, Maarten De Vos
To better understand the longitudinal characteristics of Parkinson's disease (PD) through the analysis of finger tapping and memory tests collected remotely using smartphones. 
 Approach: Using a large cohort (312 PD subjects and 236 controls) of participants in the mPower study, we extract clinically validated features from a finger tapping and memory test to monitor the longitudinal behaviour of study participants. We investigate any discrepancy in learning rates associated with motor and non-motor tasks between PD subjects and healthy controls...
March 8, 2018: Physiological Measurement
Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
BACKGROUND: Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of chondroitin. Chondroitin sulfate is the predominant proteoglycan in cartilage, and its sulfation is important in the developing growth plate of cartilage. A homozygous deletion encompassing part of the gene and the embedded miRNA MIR3922 had been detected in a woman with hand/foot malformation and malignant lymphoproliferative disease...
March 7, 2018: Journal of Medical Genetics
Elizabeth C Lee, Ali Arab, Sandra M Goldlust, Cécile Viboud, Bryan T Grenfell, Shweta Bansal
The surveillance of influenza activity is critical to early detection of epidemics and pandemics and the design of disease control strategies. Case reporting through a voluntary network of sentinel physicians is a commonly used method of passive surveillance for monitoring rates of influenza-like illness (ILI) worldwide. Despite its ubiquity, little attention has been given to the processes underlying the observation, collection, and spatial aggregation of sentinel surveillance data, and its subsequent effects on epidemiological understanding...
March 7, 2018: PLoS Computational Biology
S Robinson, M Follo, D Haenel, M Mauler, D Stallmann, M Tewari, D Duerschmied, K Peter, C Bode, I Ahrens, M Hortmann
BACKGROUND: micro-RNAs have shown promise as potential biomarkers for acute myocardial infarction and ischemia-reperfusion injury (I/R). Most recently droplet digital polymerase chain reaction (ddPCR) has been introduced as a more reliable and reproducible method for detecting micro-RNAs. AIMS: We aimed to demonstrate the improved technical performance and diagnostic potential of ddPCR by measuring micro-RNAs in ST-elevation myocardial infarction (STEMI). METHODS: A dilution series was performed in duplicate on synthetic Caenorrhabditis elegans-miR-39, comparing quantitative real-time PCR (qRT-PCR) and ddPCR...
April 15, 2018: International Journal of Cardiology
Lorenzo Nanetti, Valeria Elisa Contarino, Anna Castaldo, Lidia Sarro, Anne-Catherine Bachoud-Levi, Maria Giavazzi, Serena Frittoli, Andrea Ciammola, Elena Rizzo, Cinzia Gellera, Maria Grazia Bruzzone, Franco Taroni, Marina Grisoli, Caterina Mariotti
BACKGROUND: Huntington disease (HD) is an inherited neurodegenerative disorder most commonly manifesting in adulthood. Identification of biomarkers tracking neurodegeneration before the onset of motor symptoms is important for future interventional studies. Our study aimed to contribute in the phenotypic characterization of the premanifest HD phase. METHODS: 28 premanifest subjects (preHD), 25 age-matched controls, and 12 manifest HD patients were enrolled for the study...
February 23, 2018: Parkinsonism & related Disorders
Kamela Charmaine Ng, Conor Joseph Meehan, Gabriela Torrea, Léonie Goeminne, Maren Diels, Leen Rigouts, Bouke Catherine de Jong, Emmanuel André
BACKGROUND: Tuberculosis (TB) is the highest-mortality infectious disease in the world and the main cause of death related to antimicrobial resistance, yet its surveillance is still paper-based. Rifampicin-resistant TB (RR-TB) is an urgent public health crisis. The World Health Organization has, since 2010, endorsed a series of rapid diagnostic tests (RDTs) that enable rapid detection of drug-resistant strains and produce large volumes of data. In parallel, most high-burden countries have adopted connectivity solutions that allow linking of diagnostics, real-time capture, and shared repository of these test results...
February 27, 2018: JMIR Medical Informatics
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