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https://www.readbyqxmd.com/read/27908228/detection-of-mutations-in-mitochondrial-dna-by-droplet-digital-pcr
#1
J K Sofronova, Y Y Ilinsky, K E Orishchenko, E G Chupakhin, E A Lunev, I O Mazunin
Mutations in mitochondrial DNA (mtDNA) may result in various pathological processes. Detection of mutant mtDNAs is a problem for diagnostic practice that is complicated by heteroplasmy - a phenomenon of the inferring presence of at least two allelic variants of the mitochondrial genome. Also, the level of heteroplasmy largely determines the profile and severity of clinical manifestations. Here we discuss detection of mutations in heteroplasmic mtDNA using up-to-date methods that have not yet been introduced as routine clinical assays...
October 2016: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/27903892/methylation-sensitive-enrichment-of-minor-dna-alleles-using-a-double-strand-dna-specific-nuclease
#2
Yibin Liu, Chen Song, Ioannis Ladas, Mariana Fitarelli-Kiehl, G Mike Makrigiorgos
Aberrant methylation changes, often present in a minor allelic fraction in clinical samples such as plasma-circulating DNA (cfDNA), are potentially powerful prognostic and predictive biomarkers in human disease including cancer. We report on a novel, highly-multiplexed approach to facilitate analysis of clinically useful methylation changes in minor DNA populations. Methylation Specific Nuclease-assisted Minor-allele Enrichment (MS-NaME) employs a double-strand-specific DNA nuclease (DSN) to remove excess DNA with normal methylation patterns...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27899805/circulating-tumour-dna-analysis-demonstrates-spatial-mutational-heterogeneity-that-coincides-with-disease-relapse-in-myeloma
#3
S Mithraprabhu, T Khong, M Ramachandran, A Chow, D Klarica, L Mai, S Walsh, D Broemeling, A Marziali, M Wiggin, J Hocking, A Kalff, B Durie, A Spencer
Mutational characterisation in multiple myeloma (MM) currently relies on bone marrow (BM) biopsy, which fails to capture the putative spatial and genetic heterogeneity of this multi-focal disease. Analysis of plasma (PL)-derived circulating free tumour DNA (ctDNA) as an adjunct to BM biopsy, for mutational characterisation and tracking disease progression, was evaluated. Paired BM MM cell DNA and ctDNA from 33 relapsed [RR] and 15 newly diagnosed [ND] patients were analysed for KRAS, NRAS, BRAF and TP53 mutations using the OnTarget™ Mutation Detection (OMD) platform...
November 30, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27894866/transcriptional-regulation-of-the-sodium-channel-gene-scn5a-by-gata4-in-human-heart
#4
Anna Tarradas, Mel Lina Pinsach-Abuin, Carlos Mackintosh, Oriol Llorà-Batlle, Alexandra Pérez-Serra, Montserrat Batlle, Félix Pérez-Villa, Thomas Zimmer, Ivan Garcia-Bassets, Ramon Brugada, Pedro Beltran-Alvarez, Sara Pagans
Aberrant expression of the sodium channel gene (SCN5A) has been proposed to disrupt cardiac action potential and cause human cardiac arrhythmias, but the mechanisms of SCN5A gene regulation and dysregulation still remain largely unexplored. To gain insight into the transcriptional regulatory networks of SCN5A, we surveyed the promoter and first intronic regions of the SCN5A gene, predicting the presence of several binding sites for GATA transcription factors (TFs). Consistent with this prediction, chromatin immunoprecipitation (ChIP) and sequential ChIP (Re-ChIP) assays show co-occupancy of cardiac GATA TFs GATA4 and GATA5 on promoter and intron 1 SCN5A regions in fresh-frozen human left ventricle samples...
November 25, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27886039/use-of-personal-digital-assistants-to-detect-healthcare-associated-infections-in-a-neonatal-intensive-care-unit-in-egypt
#5
Elham Am El-Feky, Doa'a A Saleh, Jehan El-Kholy, Ahmed Mahmoud Sayed, Yasmeen Mansi, Mohamed Hashem
INTRODUCTION: Personal digital assistants (PDAs) used in electronic laboratory-based surveillance are a promising alternative to conventional surveillance to detect healthcare-associated infections (HAIs). The aim of the study was to monitor, detect, and analyze HAIs using PDAs in a neonatal intensive care unit (NICU). METHODOLOGY: In this descriptive study, 1,053 neonates admitted to the NICU in the obstetrics and gynecology ward at the Cairo University hospital were included and evaluated for HAIs by collecting data using PDAs programmed by Naval Medical Research Unit 3, Cairo, with the definitions for HAIs provided by the National Healthcare Safety Network of the Centers for Disease Control and Prevention...
November 24, 2016: Journal of Infection in Developing Countries
https://www.readbyqxmd.com/read/27867553/using-a-chemiresistor-based-alkane-sensor-to-distinguish-exhaled-breaths-of-lung-cancer-patients-from-subjects-with-no-lung-cancer
#6
Jiunn-Liang Tan, Zheng-Xin Yong, Chong-Kin Liam
BACKGROUND: Breath alkanes are reported to be able to discriminate lung cancer patients from healthy people. A simple chemiresistor-based sensor was designed to respond to alkanes by a change in resistance measured by a digital multimeter connected to the sensor. In preclinical experiments, the sensor response was found to have a strong positive linear relationship with alkane compounds and not responsive to water. This study aimed to determine the ability of the alkane sensor to distinguish the exhaled breaths of lung cancer patients from that of chronic obstructive pulmonary disease (COPD) patients and control subjects without lung cancer...
October 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27863426/quantification-of-tumor-derived-cell-free-dna-cfdna-by-digital-pcr-digpcr-in-cerebrospinal-fluid-of-patients-with-brafv600-mutated-malignancies
#7
Parisa Momtaz, Elena Pentsova, Omar Abdel-Wahab, Eli Diamond, David Hyman, Taha Merghoub, Daoqi You, Billel Gasmi, Agnes Viale, Paul B Chapman
Tumor-derived cell free DNA (cfDNA) can be detected in plasma. We hypothesized that mutated BRAF V600 cfDNA could be quantified in the cerebrospinal fluid (CSF) of patients with central nervous system (CNS) metastases. We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. Tumor-derived cfDNA was quantified by digital PCR in the CSF of 6/11 patients (range from 0...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27861368/comparison-of-extracranial-artery-stenosis-and-cerebral-blood-flow-assessed-by-quantitative-magnetic-resonance-using-digital-subtraction-angiography-as-the-reference-standard
#8
Jingjing Cai, Dan Wu, Yongqian Mo, Anxin Wang, Shiyu Hu, Lijie Ren
Extracranial arteriosclerosis usually indicates a high risk of ischemic stroke. In the past, a clinical decision following diagnosis was dependent on the percentage of vessel stenosis determined by an invasive technique. We aimed to develop a quantitative magnetic resonance (QMR) technique to evaluate artery structure and cerebral hemodynamics noninvasively.QMR and digital subtraction angiography (DSA) were performed in 67 patients with suspected cerebral vascular disease at our hospital. Accuracy, sensitivity, positive predictive values (PPVs), negative predictive values (NPVs), and Pearson correlation coefficient of QMR were calculated and compared for the detection and measurement of vascular stenoses using DSA as a gold standard...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27858717/diagnostic-value-of-a-tablet-based-drawing-task-for-discrimination-of-patients-in-the-early-course-of-alzheimer-s-disease-from-healthy-individuals
#9
Stephan Müller, Oliver Preische, Petra Heymann, Ulrich Elbing, Christoph Laske
There is a considerable delay in the diagnosis of dementia, which may reduce the effectiveness of available treatments. Thus, it is of great interest to develop fast and easy to perform, non-invasive and non-expensive diagnostic measures for the early detection of cognitive impairment and dementia. Here we investigate movement kinematics between 20 patients with early dementia due to Alzheimer's disease (eDAT), 30 patients with amnestic MCI (aMCI), and 20 cognitively healthy control (HC) individuals while copying a three-dimensional house using a digitizing tablet...
November 14, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27853258/digital-detection-of-exosomes-by-interferometric-imaging
#10
George G Daaboul, Paola Gagni, Luisa Benussi, Paolo Bettotti, Miriam Ciani, Marina Cretich, David S Freedman, Roberta Ghidoni, Ayca Yalcin Ozkumur, Chiara Piotto, Davide Prosperi, Benedetta Santini, M Selim Ünlü, Marcella Chiari
Exosomes, which are membranous nanovesicles, are actively released by cells and have been attributed to roles in cell-cell communication, cancer metastasis, and early disease diagnostics. The small size (30-100 nm) along with low refractive index contrast of exosomes makes direct characterization and phenotypical classification very difficult. In this work we present a method based on Single Particle Interferometric Reflectance Imaging Sensor (SP-IRIS) that allows multiplexed phenotyping and digital counting of various populations of individual exosomes (>50 nm) captured on a microarray-based solid phase chip...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27851860/dermatopulmonary-syndrome-associated-with-anti-mda5-antibodies-after-allogeneic-hematopoietic-stem-cell-transplantation
#11
Clémence Lepelletier, Djaouida Bengoufa, Zeltni Lyes, Adèle de Masson, François Chasset, Marie Jachiet, David Michonneau, Marie Robin, Régis Peffault de Latour, Flore Sicre de Fontbrune, Yacine Tandjaoui-Lambiotte, Armand Bensussan, Michel Rybojad, Abdellatif Tazi, Martine Bagot, Gérard Socié, Anne Bergeron, Jean-David Bouaziz
Importance: Chronic graft-vs-host-disease (cGVHD) after allogeneic stem cell transplantation (AHSCT) may resemble autoimmune diseases. Anti-MDA5 (melanoma differentiation-associated gene 5) dermatopulmonary syndrome is a subset of dermatomyositis defined by specific clinical features and detection of anti-MDA5-antibodies in the serum. Objective: To characterize the clinical features of patients who underwent AHSCT and screened positively for anti-MDA5 antibodies...
November 16, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27843538/reversibility-of-minimal-hepatic-encephalopathy-following-liver-transplantation-in-egyptian-cirrhotic-patients
#12
Mahmoud A Osman, Moataz M Sayed, Khaled A Mansour, Shereen A Saleh, Wesam A Ibrahim, Sara M Abdelhakam, Mohamed Bahaa, Wael A Yousry, Hosam S Elbaz, Reginia N Mikhail, Azza M Hassan, Ehab H Elsayed, Dalia A Mahmoud
AIM: To evaluate the reversibility of minimal hepatic encephalopathy (MHE) following liver transplantation (LT) in Egyptian cirrhotic patients. METHODS: This prospective study included twenty patients with biopsy-proven liver cirrhosis listed for LT and twenty age- and sex-matched healthy control subjects. All underwent neuro-psychiatric examination, laboratory investigations, radiological studies and psychometric tests including trail making test A (TMT A), TMT B, digit symbol test and serial dotting test...
October 28, 2016: World Journal of Hepatology
https://www.readbyqxmd.com/read/27842984/usefulness-of-3-tesla-magnetic-resonance-arterial-spin-labeled-imaging-for-diagnosis-of-cranial-dural-arteriovenous-fistula
#13
Nobuaki Yamamoto, Junichiro Satomi, Yuki Yamamoto, Yuishin Izumi, Shinji Nagahiro, Ryuji Kaji
BACKGROUND AND PURPOSE: Conventional digital subtraction angiography (DSA) has been a useful tool for the diagnosis of cranial dural arteriovenous fistula (cDAVF). In most patients with cDAVF, blood flow through the arteriovenous shunt was pooled at diseased veins and/or sinuses. Therefore, we speculated that pooled blood at diseased veins in patients with cDAVF could be detected on arterial spin-labeled imaging (ASL). The purpose of the present study was to investigate the usefulness of ASL to detect cDAVF...
November 10, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27837211/-modern-imaging-of-the-temporal-bone
#14
S Kösling
This article describes the current significance of computed tomography (CT), magnetic resonance imaging (MRI), cone beam CT, digital subtraction angiography (DSA), and special X‑rays in the diagnostics of temporal bone diseases. The latter is obsolete for diagnostic intentions. Possibilities and limitations in terms of detection and/or depiction of the extent of inflammatory, traumatic, tumorous, and postoperative pathologies are discussed. A concrete question and conveyance of clinical findings influence the choice of the method to be applied in the individual case...
November 11, 2016: HNO
https://www.readbyqxmd.com/read/27831484/dynamic-respiratory-tortuosity-of-the-vertebral-artery-ostium
#15
Xiaobin Tang, Feng Tang, Chang Hu, Qian Wang, Whitney Long, Lei Li
PURPOSE: To determine the prevalence of dynamic respiratory tortuosity (DRT) of the vertebral artery ostium (VAO) as well as to evaluate its correlation with in-stent restenosis (ISR) and stent fracture. METHODS: From March 2012 to June 2015, 178 consecutive patients (mean age 65.2±5.8 years; 124 men) with symptoms of atherosclerotic vertebrobasilar ischemia underwent angiography prior to stent implantation in the vertebral, subclavian, and/or carotid arteries...
November 9, 2016: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/27830250/all-that-glitters-is-not-gold-consumer-health-informatics-and-education-in-the-era-of-social-media-and-health-apps-findings-from-the-yearbook-2016-section-on-consumer-health-informatics
#16
L Fernandez-Luque, P Staccini
OBJECTIVE: To summarize the state of the art published during the year 2015 in the areas related to consumer health informatics and education with a special emphasis on unintended consequences of applying mobile and social media technologies in that domain. METHODS: We conducted a systematic review of articles published in PubMed with a predefined set of queries, which lead to the selection of over 700 potential relevant articles. Section editors screened those papers on the title, abstract, and finally complete paper basis, taking into account the papers' relevance for the section topic...
November 10, 2016: Yearbook of Medical Informatics
https://www.readbyqxmd.com/read/27830230/the-unintended-consequences-of-social-media-in-healthcare-new-problems-and-new-solutions
#17
S Hors-Fraile, S Atique, M A Mayer, K Denecke, M Merolli, M Househ
OBJECTIVES: Social media is increasingly being used in conjunction with health information technology (health IT). The objective of this paper is to identify some of the undesirable outcomes that arise from this integration and to suggest solutions to these problems. METHODOLOGY: After a discussion with experts to elicit the topics that should be included in the survey, we performed a narrative review based on recent literature and interviewed multidisciplinary experts from different areas...
November 10, 2016: Yearbook of Medical Informatics
https://www.readbyqxmd.com/read/27830057/automated-analysis-of-retinal-imaging-using-machine-learning%C3%A2-techniques-for-computer-vision
#18
Jeffrey De Fauw, Pearse Keane, Nenad Tomasev, Daniel Visentin, George van den Driessche, Mike Johnson, Cian O Hughes, Carlton Chu, Joseph Ledsam, Trevor Back, Tunde Peto, Geraint Rees, Hugh Montgomery, Rosalind Raine, Olaf Ronneberger, Julien Cornebise
There are almost two million people in the United Kingdom living with sight loss, including around 360,000 people who are registered as blind or partially sighted. Sight threatening diseases, such as diabetic retinopathy and age related macular degeneration have contributed to the 40% increase in outpatient attendances in the last decade but are amenable to early detection and monitoring. With early and appropriate intervention, blindness may be prevented in many cases. Ophthalmic imaging provides a way to diagnose and objectively assess the progression of a number of pathologies including neovascular ("wet") age-related macular degeneration (wet AMD) and diabetic retinopathy...
2016: F1000Research
https://www.readbyqxmd.com/read/27827846/age-related-renal-microvascular-changes-evaluation-by-three-dimensional-digital-imaging-of-the-human-renal-microcirculation-using-virtual-microscopy
#19
Noriko Uesugi, Yoshihito Shimazu, Kazunori Kikuchi, Michio Nagata
The renal microvasculature is targeted during aging, sometimes producing chronic kidney disease (CKD). Overdiagnosis of CKD in older persons is concerning. To prevent it, a new concept of "healthy aging" is arising from a healthy renal donor study. We investigated the renal microcirculatory changes of three older persons and compared them with that of one patient with nephrosclerosis using a three-dimensional (3D) reconstruction technique that we previously developed. This method uses a virtual slide system and paraffin-embedded serial sections of surgical material that was double-immunostained by anti-CD34 and anti-α smooth muscle actin (SMA) antibodies for detecting endothelial cells and medial smooth muscle cells, respectively...
November 2, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27818843/is-there-an-association-of-physical-activity-with-brain-volume-behavior-and-day-to-day-functioning-a-cross-sectional-design-in-prodromal-and-early-huntington-disease
#20
McKenzie Wallace, Nancy Downing, Spencer Lourens, James Mills, Ji-In Kim, Jeffrey Long, Jane Paulsen, Predict-Hd Investigators And Coordinators Of The Huntington Study Group
BACKGROUND: Huntington disease (HD) is a genetic neurodegenerative disease leading to progressive motor, cognitive, and behavioral decline. Subtle changes in these domains are detectable up to 15 years before a definitive motor diagnosis is made. This period, called prodromal HD, provides an opportunity to examine lifestyle behaviors that may impact disease progression. THEORETICAL FRAMEWORK: Physical activity relates to decreased rates of brain atrophy and improved cognitive and day-to-day functioning in Alzheimer disease and healthy aging populations...
March 17, 2016: PLoS Currents
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