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https://www.readbyqxmd.com/read/29044765/a-novel-inborn-error-of-the-coenzyme-q10-biosynthesis-pathway-cerebellar-ataxia-and-static-encephalomyopathy-due-to-coq5-c-methyltransferase-deficiency
#1
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C Chandrasekharappa, Carlos Ferreira, Natalia Shelestovich, Dina Marek-Yagel, Hadass Pri-Chen, Ilan Blatt, John E Niederhuber, Langping He, Camilo Toro, Robert W Taylor, John Deeken, Tal Yardeni, Douglas C Wallace, William A Gahl, Yair Anikster
Primary coenzyme Q10 (CoQ10 ; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10 , and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been implicated in human disease. Here, we report three female siblings of Iraqi-Jewish descent, who had varying degrees of cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures and cognitive disability...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29044152/a-machine-learning-assisted-label-free-non-invasive-approach-for-somatic-reprogramming-in-induced-pluripotent-stem-cell-colony-formation-detection-and-prediction
#2
Ke Fan, Sheng Zhang, Ying Zhang, Jun Lu, Mike Holcombe, Xiao Zhang
During cellular reprogramming, the mesenchymal-to-epithelial transition is accompanied by changes in morphology, which occur prior to iPSC colony formation. The current approach for detecting morphological changes associated with reprogramming purely relies on human experiences, which involve intensive amounts of upfront training, human error with limited quality control and batch-to-batch variations. Here, we report a time-lapse-based bright-field imaging analysis system that allows us to implement a label-free, non-invasive approach to measure morphological dynamics...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29043113/simultaneous-tracking-of-cardiorespiratory-signals-for-multiple-persons-using-a-machine-vision-system-with-noise-artifact-removal
#3
Ali Al-Naji, Javaan Chahl
Most existing non-contact monitoring systems are limited to detecting physiological signs from a single subject at a time. Still, another challenge facing these systems is that they are prone to noise artifacts resulting from motion of subjects, facial expressions, talking, skin tone, and illumination variations. This paper proposes an efficient non-contact system based on a digital camera to track the cardiorespiratory signal from a number of subjects (up to six persons) at the same time with a new method for noise artifact removal...
2017: IEEE Journal of Translational Engineering in Health and Medicine
https://www.readbyqxmd.com/read/29042494/insights-from-the-genome-sequence-of-mycobacterium-lepraemurium-massive-gene-decay-and-reductive-evolution
#4
Andrej Benjak, Tanvi P Honap, Charlotte Avanzi, Enrique Becerril-Villanueva, Iris Estrada-García, Oscar Rojas-Espinosa, Anne C Stone, Stewart T Cole
Mycobacterium lepraemurium is the causative agent of murine leprosy, a chronic, granulomatous disease similar to human leprosy. Due to the similar clinical manifestations of human and murine leprosy and the difficulty of growing both bacilli axenically, Mycobacterium leprae and M. lepraemurium were once thought to be closely related, although it was later suggested that M. lepraemurium might be related to Mycobacterium avium In this study, the complete genome of M. lepraemurium was sequenced using a combination of PacBio and Illumina sequencing...
October 17, 2017: MBio
https://www.readbyqxmd.com/read/29041800/an-exploration-of-the-knowledge-attitudes-and-beliefs-of-xhosa-men-concerning-traditional-circumcision
#5
Salome Froneman, Paul A Kapp
BACKGROUND: The practice of traditional circumcision is associated with considerable morbidity and mortality, yet there is a paucity of literature that provides an understanding of the cultural values that influence men to choose traditional rather than medical circumcision.The aim of this study was to better understand the culture surrounding traditional circumcision, with a view to addressing morbidity and mortality rates associated with the Xhosa male initiation rituals.We explored Xhosa men's perceptions regarding the need for the risks and the social pressure to undergo traditional circumcision, the impact of non-initiation or failed initiation and the perceived barriers to obtaining medical help for the complications of traditional circumcisions...
October 13, 2017: African Journal of Primary Health Care & Family Medicine
https://www.readbyqxmd.com/read/29040636/vt-1161-protects-mice-against-oropharyngeal-candidiasis-caused-by-fluconazole-susceptible-and-resistant-candida-albicans
#6
Timothy J Break, Jigar V Desai, Mukil Natarajan, Elise M N Ferre, Christina Henderson, Adrian M Zelazny, Ulrich Siebenlist, William J Hoekstra, Robert J Schotzinger, Edward P Garvey, Michail S Lionakis
Background: Candida albicans, the most common human fungal pathogen, causes chronic mucosal infections in patients with inborn errors of IL-17 immunity that rely heavily on chronic, often lifelong, azole antifungal agents for treatment. However, a rise in azole resistance has predicated a need for developing new antifungal drugs. Objectives: To test the in vitro and in vivo efficacy of VT-1161 and VT-1129 in the treatment of oropharyngeal candidiasis with azole-susceptible or -resistant C...
October 10, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29040494/beyond-reward-prediction-errors-human-striatum-updates-rule-values-during-learning
#7
Ian Ballard, Eric M Miller, Steven T Piantadosi, Noah D Goodman, Samuel M McClure
Humans naturally group the world into coherent categories defined by membership rules. Rules can be learned implicitly by building stimulus-response associations using reinforcement learning or by using explicit reasoning. We tested if the striatum, in which activation reliably scales with reward prediction error, would track prediction errors in a task that required explicit rule generation. Using functional magnetic resonance imaging during a categorization task, we show that striatal responses to feedback scale with a "surprise" signal derived from a Bayesian rule-learning model and are inconsistent with RL prediction error...
October 13, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29040395/human-genome-sequencing-at-the-population-scale-a-primer-on-high-throughput-dna-sequencing-and-analysis
#8
Rachel L Goldfeder, Dennis P Wall, Muin J Khoury, John P A Ioannidis, Euan A Ashley
Most human diseases have underlying genetic causes. To better understand the impact of genes on disease and its implications for medicine and public health, researchers have pursued methods for determining the sequences of individual genes, then all genes, and now complete human genomes. Massively parallel high-throughput sequencing technology, where DNA is sheared into smaller pieces, sequenced, and then computationally reordered and analyzed, enables fast and affordable sequencing of full human genomes. As the price of sequencing continues to decline, more and more individuals are having their genomes sequenced...
October 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29040084/quantification-and-identification-of-aerobic-bacteria-in-holy-water-samples-from-a-german-environment
#9
Christoph König, Stephanie Tauchnitz, Heike Kunzelmann, Christian Horn, Frithjof Blessing, Matthias Kohl, Markus Egert
Despite its frequent use in many religious institutions, the microbiological quality of holy water is clearly underinvestigated. We analyzed the microbial load of 54 holy water samples, repeatedly taken in five Roman Catholic churches in the greater area of Villingen-Schwenningen, Germany, by means of aerobic colony counting and Matrix-Assisted Laser Desorption/Ionization (MALDI) Biotyping of representative isolates. Over all samples, colony counting indicated an average aerobic microbial load of 5.85 ± 3...
October 2017: Journal of Water and Health
https://www.readbyqxmd.com/read/29039327/formulation-of-lyophilized-single-vial-kit-of-n-n-ethylene-l-dicysteine-ec-for-labeling-with-99m-tc-ii-radiochemical-and-clinical-evaluation-as-a-renal-tubular-agent-in-comparison-with-99m-tc-mag3
#10
Anjum Afshan, Mohammad Sohaib, Mohammad Jehangir
A Technetium (99m)Tc labeled lyophilized single component kit of N-N-ethylene-I-dicysteine (EC) is developed to replace multiple step kit developed by others. The aim of study is to formulate a radionuclide that is easy to prepare, has rapid plasma clearance, produce high quality images and is an affective alternative to radioiodine labeled orthoiodohippurate, which has been remained the physiological 'gold standard' since long time. To achieve this goal, the systematically varied key parameters such as pH, the use of reducing agents, stabilizers and additives are optimized to obtain maximum radiochemical purity and optimum biodistribution in non human and human primates...
July 2017: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29038656/unveiling-a-drift-resistant-cryptotope-within-marburgvirus-nucleoprotein-recognized-by-llama-single-domain-antibodies
#11
John Anthony Garza, Alexander Bryan Taylor, Laura Jo Sherwood, Peter John Hart, Andrew Hayhurst
Marburg virus (MARV) is a highly lethal hemorrhagic fever virus that is increasingly re-emerging in Africa, has been imported to both Europe and the US, and is also a Tier 1 bioterror threat. As a negative sense RNA virus, MARV has error prone replication which can yield progeny capable of evading countermeasures. To evaluate this vulnerability, we sought to determine the epitopes of 4 llama single-domain antibodies (sdAbs or VHH) specific for nucleoprotein (NP), each capable of forming MARV monoclonal affinity reagent sandwich assays...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29038589/estimation-of-the-age-of-human-bloodstains-under-the-simulated-indoor-and-outdoor-crime-scene-conditions-by-atr-ftir-spectroscopy
#12
Hancheng Lin, Yinming Zhang, Qi Wang, Bing Li, Ping Huang, Zhenyuan Wang
Estimation of the age of human bloodstains is of great importance in forensic practices, but it is a challenging task because of the lack of a well-accepted, reliable, and established method. Here, the attenuated total reflection (ATR)-Fourier transform infrared (FTIR) technique combined with advanced chemometric methods was utilized to determine the age of indoor and outdoor bloodstains up to 107 days. The bloodstain storage conditions mimicked crime scene scenarios as closely as possible. Two partial least squares regression models-indoor and outdoor models with 7-85 days-exhibited good performance for external validation, with low values of predictive root mean squared error (5...
October 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29037368/developing-a-new-individualized-3-node-model-for-evaluating-the-effects-of-personal-factors-on-thermal-sensation
#13
Farzin Davoodi, Hasan Hasanzadeh, Seyed Alireza Zolfaghari, Mehdi Maerefat
Individual differences, such as weight, height, gender, age, and Basal Metabolic Rate (BMR), between human subjects can significantly affect body thermoregulatory mechanisms. Therefore, application of common population-based thermal comfort models cannot provide accurate results for an individual's thermal sensation. Based on the standard thermal models, including those of Fanger and Gagge, individual parameters are not considered in the evaluation of thermal sensations. Thus, these simplified standard models have some limitations under varied individual conditions...
October 2017: Journal of Thermal Biology
https://www.readbyqxmd.com/read/29037171/peakcaller-an-automated-graphical-interface-for-the-quantification-of-intracellular-calcium-obtained-by-high-content-screening
#14
Elena Artimovich, Russell K Jackson, Michaela B C Kilander, Yu-Chih Lin, Michael W Nestor
BACKGROUND: Intracellular calcium is an important ion involved in the regulation and modulation of many neuronal functions. From regulating cell cycle and proliferation to initiating signaling cascades and regulating presynaptic neurotransmitter release, the concentration and timing of calcium activity governs the function and fate of neurons. Changes in calcium transients can be used in high-throughput screening applications as a basic measure of neuronal maturity, especially in developing or immature neuronal cultures derived from stem cells...
October 16, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/29036851/a-novel-low-cost-approach-for-navigated-transcranial-magnetic-stimulation
#15
Jakob Rodseth, Edward P Washabaugh, Chandramouli Krishnan
BACKGROUND: Transcranial magnetic stimulation (TMS) is commonly used for assessing or modulating brain excitability. However, the credibility of TMS outcomes depends on accurate and reliable coil placement during stimulation. Navigated TMS systems can address this issue, but these systems are expensive for routine use in clinical and research environments. OBJECTIVE: The purpose of this study was to provide a high-quality open source framework for navigated TMS and test its reliability and accuracy using standard TMS procedures...
October 9, 2017: Restorative Neurology and Neuroscience
https://www.readbyqxmd.com/read/29036419/an-accurate-algorithm-for-the-detection-of-dna-fragments-from-dilution-pool-sequencing-experiments
#16
Vikas Bansal
Motivation: The short read lengths of current high-throughput sequencing technologies limit the ability to recover long-range haplotype information. Dilution pool methods for preparing DNA sequencing libraries from high molecular weight DNA fragments enable the recovery of long DNA fragments from short sequence reads. These approaches require computational methods for identifying the DNA fragments using aligned sequence reads and assembling the fragments into long haplotypes. Although a number of computational methods have been developed for haplotype assembly, the problem of identifying DNA fragments from dilution pool sequence data has not received much attention...
July 11, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29036274/a-robust-df-reml-framework-for-variance-components-estimation-in-genetic-studies
#17
V M Lourenço, P C Rodrigues, A M Pires, H-P Piepho
Motivation: In genetic association studies, linear mixed models (LMMs) are used to test for associations between phenotypes and candidate single nucleotide polymorphisms (SNPs). These same models are also used to estimate heritability, which is central not only to evolutionary biology but also to the prediction of the response to selection in plant and animal breeding, as well as the prediction of disease risk in humans. However, when one or more of the underlying assumptions are violated, the estimation of variance components may be compromised and therefore so may the estimates of heritability and any other functions of these...
July 14, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29034404/quality-control-and-gap-filling-of-pm10-daily-mean-concentrations-with-the-best-linear-unbiased-estimator
#18
R Sozzi, A Bolignano, S Ceradini, M Morelli, I Petenko, S Argentini
According to the European Directive 2008/50/CE, the air quality assessment consists in the measurement of the concentration fields, and the evaluation of the mean, number of exceedances, etc. of some chemical species dangerous to human health. The measurements provided by an air quality ground-based monitoring network are the main information source but the availability of these data is often limited by several technical and operational problems. In this paper, the best linear unbiased estimator (BLUE) is proposed to validate the pollutant concentration values and to fill the gaps in the measurement of time series collected by a monitoring network...
October 15, 2017: Environmental Monitoring and Assessment
https://www.readbyqxmd.com/read/29034272/influence-of-head-position-on-the-cbct-accuracy-in-assessment-of-the-proximity-of-the-root-apices-to-the-inferior-alveolar-canal
#19
Sadaf Adibi, Shoaleh Shahidi, Saeed Nikanjam, Maryam Paknahad, Mohammadali Ranjbar
STATEMENT OF THE PROBLEM: The most important risk factor for inferior alveolar nerve (IAN) damage is the proximity of the mandibular root apices to the alveolar canal. Failure to position the patient's head at standardized orientation during cone beam computed tomography (CBCT) scans might adversely affect the relative position of the alveolar canal and mandibular root apices with subsequent treatment failure. PURPOSE: The purpose of the present study was to investigate the influence of the orientations of the skull during the scanning procedure on the accuracy of CBCT images in determining the positional relationship of the mandibular tooth apices to the alveolar canal...
September 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/29032447/evaluation-and-calibration-of-high-throughput-predictions-of-chemical-distribution-to-tissues
#20
Robert G Pearce, R Woodrow Setzer, Jimena L Davis, John F Wambaugh
Toxicokinetics (TK) provides critical information for integrating chemical toxicity and exposure assessments in order to determine potential chemical risk (i.e., the margin between toxic doses and plausible exposures). For thousands of chemicals that are present in our environment, in vivo TK data are lacking. The publicly available R package "httk" (version 1.8, named for "high throughput TK") draws from a database of in vitro data and physico-chemical properties in order to run physiologically-based TK (PBTK) models for 553 compounds...
October 14, 2017: Journal of Pharmacokinetics and Pharmacodynamics
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