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https://www.readbyqxmd.com/read/28732215/a-method-for-next-generation-sequencing-of-paired-diagnostic-and-remission-samples-to-detect-mitochondrial-dna-mutations-associated-with-leukemia
#1
Ilaria S Pagani, Chung H Kok, Verity A Saunders, Mark B Van der Hoek, Susan L Heatley, Anthony P Schwarer, Christopher N Hahn, Timothy P Hughes, Deborah L White, David M Ross
Somatic mitochondrial DNA (mtDNA) mutations have been identified in many human cancers, including leukemia. To identify somatic mutations, it is necessary to have a control tissue from the same individual for comparison. When patients with leukemia achieve remission, the remission peripheral blood may be a suitable and easily accessible control tissue, but this approach has not previously been applied to the study of mtDNA mutations. We have developed and validated a next-generation sequencing approach for the identification of leukemia-associated mtDNA mutations in 26 chronic myeloid leukemia patients at diagnosis using either nonhematopoietic or remission blood samples as the control...
July 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28730763/dna-mismatch-repair-deficiency-in-lung-and-oral-cavity-carcinomas-the-role-of-histogenetic-origin
#2
Konstantina N Spetsotaki, Evangelos Tsiambas, Athanasios Stamatelopoulos, Panagiotis P Fotiades, Ioannis Kastanioudakis, Pericles Tomos, Vasileios Ragos
DNA mismatch repair system (DNA MMR) is a crucial genetic mechanism for DNA homeostasis in prokaryotic and eukaryotic cells. During DNA replication and also recombination, point intra-nucleotide errors including base deletion, insertion, and mis-incorporation happen. These raised abnormalities in the newly synthesized DNA strand could affect negatively the stability of the molecule and the function of the corresponding genes. DNA MMR proteins prevent these errors by recognizing and repairing them, securing directly the normal anatomy of the DNA double strand and indirectly the expression of the genes...
May 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28730109/human-eye-ocular-component-analysis-for-refractive-state-and-refractive-surgery
#3
Chao-Kai Chang, Jui-Teng Lin, Yong Zhang
AIM: To analyze the clinical factors influencing the human vision corrections via the changing of ocular components of human eye in various applications; and to analyze refractive state via a new effective axial length. METHODS: An effective eye model was introduced by the ocular components of human eye including refractive indexes, surface radius (r1, r2, R1, R2) and thickness (t, T) of the cornea and lens, the anterior chamber depth (S1) and the vitreous length (S2)...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28728018/unbelievable-neural-correlate-of-the-feedback-negativity-in-the-anterior-cingulate
#4
Bruno B Averbeck
The feedback- or error-related negativity (FN) has been extensively documented in frontal EEG recordings in human participants. In this issue of Neuron, Hyman et al. (2017) have documented a single-cell correlate of the FN in the ACC of rodents.
July 19, 2017: Neuron
https://www.readbyqxmd.com/read/28727736/persistent-damaged-bases-in-dna-allow-mutagenic-break-repair-in-escherichia-coli
#5
Jessica M Moore, Raul Correa, Susan M Rosenberg, P J Hastings
Bacteria, yeast and human cancer cells possess mechanisms of mutagenesis upregulated by stress responses. Stress-inducible mutagenesis potentially accelerates adaptation, and may provide important models for mutagenesis that drives cancers, host pathogen interactions, antibiotic resistance and possibly much of evolution generally. In Escherichia coli repair of double-strand breaks (DSBs) becomes mutagenic, using low-fidelity DNA polymerases under the control of the SOS DNA-damage response and RpoS general stress response, which upregulate and allow the action of error-prone DNA polymerases IV (DinB), II and V to make mutations during repair...
July 20, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28725358/grandparentage-assignments-identify-unexpected-adfluvial-life-history-tactic-contributing-offspring-to-a-reintroduced-population
#6
Nicholas M Sard, Dave P Jacobson, Michael A Banks
Diversity in life history tactics contributes to the persistence of a population because it helps to protect against stochastic environments by varying individuals in space and time. However, some life history tactics may not be accounted for when assessing the demographic viability of a population. One important factor in demographic viability assessments is cohort replacement rate (CRR), which is defined as the number of future adults produced by an adult. We assessed if precocial resident males (<age-3) and adfluvial Chinook salmon (Oncorhynchus tshawytscha), adults that reside in freshwater their entire lives, contributed offspring to a reintroduced population from 2008 to 2013...
October 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/28722314/prospective-motion-correction-using-coil-mounted-cameras-cross-calibration-considerations
#7
Julian Maclaren, Murat Aksoy, Melvyn B Ooi, Benjamin Zahneisen, Roland Bammer
PURPOSE: Optical prospective motion correction substantially reduces sensitivity to motion in neuroimaging of human subjects. However, a major barrier to clinical deployment has been the time-consuming cross-calibration between the camera and MRI scanner reference frames. This work addresses this challenge. METHODS: A single camera was mounted onto the head coil for tracking head motion. Two new methods were developed: (1) a rapid calibration method for camera-to-scanner cross-calibration using a custom-made tool incorporating wireless active markers, and (2) a calibration adjustment method to compensate for table motion between scans...
July 19, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28721695/myopes-have-significantly-higher-serum-melatonin-concentrations-than-non-myopes
#8
Stephanie Kearney, Lisa O'Donoghue, Kirsty L Pourshahidi, Diego Cobice, Kathryn J Saunders
PURPOSE: Experimental animal models of myopia demonstrate that higher melatonin (Mel) and lower dopamine (DA) concentrations actively promote axial elongation. This study explored the association between myopia and serum concentrations of DA and Mel in humans. METHODS: Morning serum concentrations of DA and Mel were measured by solid phase extraction-liquid chromatography-tandem mass spectrometry from 54 participants (age 19.1 ± 0.81 years) in September/October 2014 (phase 1) and March/April 2016 (phase 2)...
July 18, 2017: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/28720484/long-term-enzyme-replacement-therapy-improves-neurocognitive-functioning-and-hippocampal-synaptic-plasticity-in-immune-tolerant-alpha-mannosidosis-mice
#9
Stijn Stroobants, Markus Damme, Ann Van der Jeugd, Ben Vermaercke, Claes Andersson, Jens Fogh, Paul Saftig, Judith Blanz, Rudi D'Hooge
Alpha-mannosidosis is a glycoproteinosis caused by deficiency of lysosomal acid alpha-mannosidase (LAMAN), which markedly affects neurons of the central nervous system (CNS), and causes pathognomonic intellectual dysfunction in the clinical condition. Cognitive improvement consequently remains a major therapeutic objective in research on this devastating genetic error. Immune-tolerant LAMAN knockout mice were developed to evaluate the effects of enzyme replacement therapy (ERT) by prolonged administration of recombinant human enzyme...
July 15, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28720184/human-performance-time-model-of-spacecraft-control-panel-operation-in-simulated-microgravity
#10
Shi Cao, Yijing Zhang, Yunhuan Guo, Shanguang Chen
BACKGROUND: Human performance modeling plays an important role in the design and management of human spaceflight missions. Previous studies reported that manual control task time increased in microgravity conditions. The current study aimed to find a modeling method that can quantify and predict the task time of spacecraft control panel operation in the simulated microgravity condition. METHODS: We proposed the application of a predetermined elemental task method together with an information processing time model to quantify both physical motion time and cognitive time...
August 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28719981/the-mental-representation-of-the-human-gait-in-patients-with-severe-knee-osteoarthrosis-a-clinical-study-to-aid-understanding-of-impairment-and-disability
#11
Robert Jacksteit, Anett Mau-Moeller, Martin Behrens, Rainer Bader, Wolfram Mittelmeier, Ralf Skripitz, Tino Stöckel
OBJECTIVE: Objectives were (1) to explore differences in gait-specific long-term memory structures and gait performance between knee osteoarthrosis patients and healthy subjects and (2) to identify the extent to which the gait-specific mental representation is associated with gait performance. DESIGN: Cross-sectional study. SUBJECTS: In total, 18 knee osteoarthrosis patients and 18 control subjects. METHODS: Spatio-temporal (gait speed, step length) and temporophasic (stance time, swing time, single support time, total double support time) gait parameters and gait variability were measured with an electronic walkway (OptoGait)...
July 1, 2017: Clinical Rehabilitation
https://www.readbyqxmd.com/read/28719380/comparison-of-different-antibody-clones-for-immunohistochemistry-detection-of-programmed-cell-death-ligand-1-pd-l1-on-non-small-cell-lung-carcinoma
#12
Edwin R Parra, Pamela Villalobos, Barbara Mino, Jaime Rodriguez-Canales
Programmed cell death ligand 1 (PD-L1) is a major immune checkpoint protein that mediates antitumor immune suppression and response. Preliminary data suggest that its detection using immunohistochemistry (IHC) in formalin-fixed and paraffin-embedded tissues may predict clinical response to PD-1/PD-L1 therapy. In diagnostic pathology, it is essential to count with a validated IHC that can reliably detect PD-L1-positive cases. The present study was conducted to compare and validate different PD-L1 commercial clones and identify which ones can be reliably used by surgical pathologist to detect PD-L1 expression in human cancer tissues...
July 17, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28719002/eyeslam-real-time-simultaneous-localization-and-mapping-of-retinal-vessels-during-intraocular-microsurgery
#13
Daniel Braun, Sungwook Yang, Joseph N Martel, Cameron N Riviere, Brian C Becker
BACKGROUND: Fast and accurate mapping and localization of the retinal vasculature is critical to increasing the effectiveness and clinical utility of robot-assisted intraocular microsurgery such as laser photocoagulation and retinal vessel cannulation. METHODS: The proposed EyeSLAM algorithm delivers 30 Hz real-time simultaneous localization and mapping of the human retina and vasculature during intraocular surgery, combining fast vessel detection with 2D scan-matching techniques to build and localize a probabilistic map of the vasculature...
July 18, 2017: International Journal of Medical Robotics + Computer Assisted Surgery: MRCAS
https://www.readbyqxmd.com/read/28718258/variations-in-the-age-of-fusion-of-ischial-tuberosity-a-radiological-study
#14
Hina Siddiqi, Sarah Nisar, Nazish Waheed
BACKGROUND: Human skeleton develops from separate ossification centres which continue to ossify till the bone is completely formed. Radiological techniques are very reliable and useful method for estimating the age of individual for forensic and criminal reasons by observing these ossification centres. External inspection for age determination is liable to error. This study is thus aimed to assess the variation in age of fusion of ischial tuberosity in Pakistani population. METHODS: It was a cross sectional study, wherein data was retrospectively collected at Bahawalpur Victoria Hospital, a tertiary referral centre in which consecutively selected 47 females and 121 males between 10-24 years of age, attending the outpatient, referred from National Database and Registration Authority for the confirmation of age were selected...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28717573/in-vivo-digital-wavefront-sensing-using-swept-source-oct
#15
Abhishek Kumar, Lara M Wurster, Matthias Salas, Laurin Ginner, Wolfgang Drexler, Rainer A Leitgeb
Sub-aperture based digital adaptive optics is demonstrated in a fiber based point scanning optical coherence tomography system using a 1060 nm swept source laser. To detect optical aberrations in-vivo, a small lateral field of view of ~[Formula: see text] is scanned on the sample at a high volume rate of 17 Hz (~1.3 kHz B-scan rate) to avoid any significant lateral and axial motion of the sample, and is used as a "guide star" for the sub-aperture based DAO. The proof of principle is demonstrated using a micro-beads phantom sample, wherein a significant root mean square wavefront error (RMS WFE) of 1...
July 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28717349/-bad-luck-mutations-dna-mutations-are-not-the-whole-answer-to-understanding-cancer-risk
#16
James E Trosko, Giuseppe Carruba
It has been proposed that many human cancers are generated by intrinsic mechanisms that produce "Bad Luck" mutations by the proliferation of organ-specific adult stem cells. There have been serious challenges to this interpretation, including multiple extrinsic factors thought to be correlated with mutations found in cancers associated with these exposures. While support for both interpretations provides some validity, both interpretations ignore several concepts of the multistage, multimechanism process of carcinogenesis, namely, (1) mutations can be generated by both "errors of DNA repair" and "errors of DNA replication," during the "initiation" process of carcinogenesis; (2) "initiated" stem cells must be clonally amplified by nonmutagenic, intrinsic or extrinsic epigenetic mechanisms; (3) organ-specific stem cell numbers can be modified during in utero development, thereby altering the risk to cancer later in life; and (4) epigenetic tumor promoters are characterized by species, individual genetic-, gender-, developmental state-specificities, and threshold levels to be active; sustained and long-term exposures; and exposures in the absence of antioxidant "antipromoters...
April 2017: Dose-response: a Publication of International Hormesis Society
https://www.readbyqxmd.com/read/28717058/lumbosacral-transitional-vertebrae-cause-spinal-level-misconception-in-surgeries-for-degenerative-lumbar-spine-disorders
#17
Tomowaki Nakagawa, Ko Hashimoto, Takumi Tsubakino, Takeshi Hoshikawa, Takashi Inawashiro, Yasuhisa Tanaka
Human lumbar spine usually consists of five vertebrae; however, some individuals have vertebral anomalies with four or six lumbar vertebrae because of sacralized fifth lumbar vertebra (L5 sacralization) or lumbarized first sacral vertebra (S1 lumbarization), respectively. These vertebral anomalies are called lumbosacral transitional vertebra (LSTV). Although LSTV is an asymptomatic anomaly, it is known to cause misconception in spinal counts and in spinal level at lumbar spinal surgery. The purpose of this study is to evaluate how LSTV affects the diagnosis and surgeries in lumbar spine disorders...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28716204/a-protocol-to-identify-and-minimise-selection-and-information-bias-in-abattoir-surveys-estimating-prevalence-using-fasciola-hepatica-as-an-example
#18
Rebecca I Carroll, Andrew Forbes, David A Graham, Locksley L McV Messam
Abattoir surveys and findings from post-mortem meat inspection are commonly used to estimate infection or disease prevalence in farm animal populations. However, the function of an abattoir is to slaughter animals for human consumption, and the collection of information on animal health for research purposes is a secondary objective. This can result in methodological shortcomings leading to biased prevalence estimates. Selection bias can occur when the study population as obtained from the abattoir is not an accurate representation of the target population...
September 1, 2017: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/28716105/characterization-of-four-rice-uev1-genes-required-for-lys63-linked-polyubiquitination-and-distinct-functions
#19
Qian Wang, Yuepeng Zang, Xuan Zhou, Wei Xiao
BACKGROUND: The error-free branch of the DNA-damage tolerance (DDT) pathway is orchestrated by Lys63-linked polyubiquitination of proliferating cell nuclear antigen (PCNA), and this polyubiquitination is mediated by a Ubc13-Uev complex in yeast. We have previously cloned OsUBC13 from rice, whose product functions as an E2 to promote Lys63-linked ubiquitin chain assembly in the presence of yeast or human Uev. RESULTS: Here we identify four highly conserved UEV1 genes in rice whose products are able to form stable heterodimers with OsUbc13 and mediate Lys63-linked ubiquitin chain assembly...
July 17, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28715322/optimal-mixed-tracking-impedance-control-with-application-to-transfemoral-prostheses-with-energy-regeneration
#20
Gholamreza Khademi, Hanieh Mohammadi, Hanz Richter, Dan Simon
OBJECTIVE: We design an optimal passivity-based tracking / impedance control system for a robotic manipulator with energy regenerative electronics, where the manipulator has both actively and semi-actively controlled joints. The semi-active joints are driven by a regenerative actuator that includes an energy-storing element. METHOD: External forces can have a large influence on energy regeneration characteristics. Impedance control is used to impose a desired relationship between external forces and deviation from reference trajectories...
July 13, 2017: IEEE Transactions on Bio-medical Engineering
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