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https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#1
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28539639/the-absence-of-interferon-%C3%AE-promotor-stimulator-1-ips-1-predisposes-to-bronchiolitis-and-asthma-like-pathology-in-response-to-pneumoviral-infection-in-mice
#2
Jennifer Simpson, Jason P Lynch, Zhixuan Loh, Vivian Zhang, Rhiannon B Werder, Kirsten Spann, Simon Phipps
Respiratory syncytial virus (RSV)-bronchiolitis is a major cause of infant morbidity and mortality and a risk factor for subsequent asthma. We showed previously that toll-like receptor (TLR)7 in plasmacytoid dendritic cells (pDCs) is critical for protection against bronchiolitis and asthma in mice infected with pneumonia virus of mice (PVM), the mouse homolog of RSV. This lack of redundancy was unexpected as interferon-β promotor stimulator-1 (IPS-1) signalling, downstream of RIG-I-like receptor (RLR) and not TLR7 activation, contributes to host defence in hRSV-inoculated adult mice...
May 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28539601/temporal-dynamics-of-tms-interference-over-preparatory-alpha-activity-during-semantic-decisions
#3
Sara Spadone, Carlo Sestieri, Antonello Baldassarre, Paolo Capotosto
The mean amplitude of the EEG alpha (8-12 Hz) power de-synchronization (ERD) is a robust electrophysiological correlate of task anticipation. Furthermore, in paradigms using a fixed period between warning and target stimuli, such alpha de-synchronization tends to increase and to peak just before target presentation. Previous studies from our group showed that the anticipatory alpha ERD can be modulated when magnetic stimulation is delivered over specific cortical regions during a variety of cognitive tasks...
May 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28539554/investigation-of-the-pathogenesis-of-autoimmune-diseases-by-ips-cells
#4
Bunki Natsumoto, Hirofumi Shoda, Keishi Fujio, Makoto Otsu, Kazuhiko Yamamoto
  The pluripotent stem cells have a self-renewal ability and can be differentiated into theoretically all of cell types. The induced pluripotent stem (iPS) cells overcame the ethical problems of the human embryonic stem (ES) cell, and enable pathologic analysis of intractable diseases and drug discovery. The in vitro disease model using disease-specific iPS cells enables repeated analyses of human cells without influence of environment factors. Even though autoimmune diseases are polygenic diseases, autoimmune disease-specific iPS cells are thought to be a promising tool for analyzing the pathogenesis of the diseases and drug discovery in future...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28538226/exploring-neural-efficiency-in-multiple-sclerosis-patients-during-the-symbol-digit-modalities-test-a-functional-magnetic-resonance-imaging-study
#5
María Sol Fittipaldi-Márquez, Álvaro Javier Cruz-Gómez, Carla Sanchis-Segura, Antonio Belenguer, César Ávila, Cristina Forn
BACKGROUND: Reduced information-processing speed (IPS) is a primary cognitive deficit of multiple sclerosis (MS) patients. The neural efficiency hypothesis describes an inverse relationship between cognitive performance in a task and the amount of cognitive resources devoted to it. Previous studies have shown that the neural efficiency hypothesis provides an appropriate framework to explore cognitive dysfunction in neurological patients. OBJECTIVE: The aim of this study was to explore the neural efficiency hypothesis regarding IPS capabilities in cognitively preserved MS patients...
May 25, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28536718/molecular-and-clinical-profile-of-vwd-in-a-large-cohort-of-chinese-population-application-of-next-generation-sequencing-and-cnvplex-%C3%A2-technique
#6
Qian Liang, Huanhuan Qin, Qiulan Ding, Xiaoling Xie, Runhui Wu, Hongli Wang, Yiqun Hu, Xuefeng Wang
Von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency, heterogeneous laboratory phenotype and race specific distribution of mutations. The present study aimed to determine the correlation of genotype and phenotype in 200 Chinese individuals from 90 unrelated families with VWD. Next generation sequencing (NGS) of the whole coding VWF, copy number analysis of VWF by CNVplex® technique as well as a comprehensive phenotypic assessment were carried out in all index patients (IPs)...
May 24, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28532712/photosensitivity-and-epilepsy-current-concepts-and-perspectives-a-narrative-review
#7
REVIEW
A Martins da Silva, Bárbara Leal
The authors review the influence of photic stimuli on the generation of epileptic seizures, addressing the first descriptions of the phenomenon and its subsequent exploration. Initially defined in the 1950's, links between intermittent photic stimulation (IPS) and seizures were well understood by the 1970. Since then the increasing exposure to photic stimuli associated with modern life (for instance through TVs, patterns, computer games and electronic instruments with flickering displays) has led to an increased interest in this issue...
April 5, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28530648/mechanism-of-human-somatic-reprogramming-to-ips-cell
#8
Rika Teshigawara, Junkwon Cho, Masahiro Kameda, Takashi Tada
Somatic reprogramming to induced pluripotent stem cells (iPSC) was realized in the year 2006 in mice, and in 2007 in humans, by transiently forced expression of a combination of exogenous transcription factors. Human and mouse iPSCs are distinctly reprogrammed into a 'primed' and a 'naïve' state, respectively. In the last decade, puzzle pieces of somatic reprogramming have been collected with difficulty. Collectively, dissecting reprogramming events and identification of the hallmark of sequentially activated/silenced genes have revealed mouse somatic reprogramming in fragments, but there is a long way to go toward understanding the molecular mechanisms of human somatic reprogramming, even with developing technologies...
May 22, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28529373/-ideas-and-the-ips
#9
K A Kumar
No abstract text is available yet for this article.
January 2017: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28529336/stem-cells-the-different-flavours-of-ips-cells
#10
Katharine H Wrighton
No abstract text is available yet for this article.
May 22, 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/28528787/inspiratory-phonation-in-baby-voice
#11
Kathleen Wermke, Asin Ahmad Haschemi, Volker Hesse, Michael P Robb
OBJECTIVE: This study aimed to evaluate the developmental occurrence of inspiratory phonations (IPs) in the spontaneous cries of healthy infants across the first 10 weeks of life. STUDY DESIGN: This is a populational retrospective study. PARTICIPANTS: The spontaneous crying of 17 healthy infants (10 were male) was retrospectively investigated. MATERIALS AND METHODS: Sound files of spontaneously uttered cries that were repeatedly recorded once per week for across the first 10 weeks of life were retrospectively analyzed...
May 18, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28527207/beyond-a-differential-diagnosis-cognitive-and-morphometric-decoding-of-information-processing-speed-in-senior-adults-with-dsm-5-mild-neurocognitive-disorders
#12
Hanna Lu, Sandra S M Chan, Ada W T Fung, Linda C W Lam
BACKGROUND: Processing speed has been highlighted as a diagnostic item for neurocognitive disorders (NCD) in DSM-5. The utility of information processing speed (IPS) enclosed with multiscale constructs in the diagnosis of NCD warrants exploration. OBJECTIVE: We aimed to investigate the IPS with two types of measurements in the patients with NCD due to vascular disease (NCD-vascular) and NCD due to Alzheimer's disease (NCD-AD), and examine the associations between IPS measures and morphometric features...
May 13, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28526755/the-matrix-protein-tiggrin-regulates-plasmatocyte-maturation-in-drosophila-larva
#13
Chen U Zhang, Ken M Cadigan
The lymph gland (LG) is a major source of hematopoiesis during Drosophila development. In this tissue, prohemocytes differentiate into multiple lineages including macrophage-like plasmatocytes, which comprise the vast majority of mature hemocytes. Previous studies have uncovered genetic pathways that regulate prohemocyte maintenance and some cell fate choices between hemocyte lineages. However, less is known about how the plasmatocyte pool of the LG is established and matures. Here we report that Tiggrin, a matrix protein expressed in the LG, is a specific regulator of plasmatocyte maturation...
May 19, 2017: Development
https://www.readbyqxmd.com/read/28514042/effect-of-crystallization-firing-on-marginal-gap-of-cad-cam-fabricated-lithium-disilicate-crowns
#14
Steven A Gold, Jack L Ferracane, Juliana da Costa
PURPOSE: To evaluate the marginal gaps of CAD/CAM (CEREC 3) produced crowns made from leucite-reinforced glass-ceramic (IPS Empress CAD) blocks (LG), and lithium-disilicate (IPS e.max CAD) blocks before (LD-B), and after (LD-A) crystallization firing. MATERIALS AND METHODS: A human molar tooth (#19) was mounted with adjacent teeth on a typodont and prepared for a full-coverage ceramic crown. The typodont was assembled in the mannequin head to simulate clinical conditions...
May 17, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28510780/design-and-testing-of-a-new-diatom-based-index-for-heavy-metal-pollution
#15
M R Fernández, G Martín, J Corzo, A de la Linde, E García, M López, M Sousa
The Tinto and Odiel river basins (SW Spain) are known worldwide for their unique water characteristics. Such uniqueness is a consequence of their flow through the Iberian Pyrite Belt (an area rich in metal sulphides) and the mining activities in the basins. A process of sulphide oxidation occurs in this region, which acidifies the water and increases the amount of heavy metals in it. As a result, the rivers suffer the so-called "acid mine drainage" (AMD). Traditional biotic diatom-based indexes (IPS, IBD, EPI-D, etc...
May 16, 2017: Archives of Environmental Contamination and Toxicology
https://www.readbyqxmd.com/read/28508716/neural-correlates-of-individual-differences-in-fixation-duration-during-natural-reading
#16
John M Henderson, Wonil Choi, Steven G Luke, Joseph Schmidt
Reading requires integration of language and cognitive processes with attention and eye movement control. Individuals differ in their reading ability, but little is known about the neurocognitive processes associated with these individual differences. To investigate this issue, we combined eyetracking and fMRI, simultaneously recording eye movements and BOLD activity while subjects read text passages. We found that the variability and skew of fixation duration distributions across individuals, as assessed by ex-Gaussian analyses, decreased with increasing neural activity in regions associated with the cortical eye movement control network (Left FEF, Left IPS, Left IFG, and Right IFG)...
May 16, 2017: Quarterly Journal of Experimental Psychology: QJEP
https://www.readbyqxmd.com/read/28506654/effect-of-number-of-firings-on-the-color-and-translucency-of-ceramic-core-materials-with-veneer-ceramic-of-different-thicknesses
#17
Funda Bayindir, Ozlem Ozbayram
STATEMENT OF PROBLEM: Whether masking or translucency should be the goal for achieving an esthetic restoration with ceramic materials is unknown. PURPOSE: The purpose of this in vitro study was to examine the effect of the number of firings on the color and translucency of ceramic core material with different thicknesses of veneer ceramic. MATERIAL AND METHODS: Three different ceramic systems were used: IPS Empress (IE), IPS e.max Press (IEP), and Turkom Cera (TC)...
May 12, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28505842/spontaneous-symmetry-breaking-due-to-the-trade-off-between-attractive-and-repulsive-couplings
#18
K Sathiyadevi, S Karthiga, V K Chandrasekar, D V Senthilkumar, M Lakshmanan
Spontaneous symmetry breaking is an important phenomenon observed in various fields including physics and biology. In this connection, we here show that the trade-off between attractive and repulsive couplings can induce spontaneous symmetry breaking in a homogeneous system of coupled oscillators. With a simple model of a system of two coupled Stuart-Landau oscillators, we demonstrate how the tendency of attractive coupling in inducing in-phase synchronized (IPS) oscillations and the tendency of repulsive coupling in inducing out-of-phase synchronized oscillations compete with each other and give rise to symmetry breaking oscillatory states and interesting multistabilities...
April 2017: Physical Review. E
https://www.readbyqxmd.com/read/28503474/bonding-of-the-silane-containing-multi-mode-universal-adhesive-for-lithium-disilicate-ceramics
#19
Hyun-Young Lee, Geum-Jun Han, Juhea Chang, Ho-Hyun Son
OBJECTIVES: This study evaluated the influence of a multi-mode universal adhesive (MUA) containing silane (Single Bond Universal, 3M EPSE) on the bonding of resin cement to lithium disilicate. MATERIALS AND METHODS: Thirty IPS e.max CAD specimens (Ivoclar Vivadent) were fabricated. The surfaces were treated as follows: Group A, adhesive that did not contain silane (ANS, Porcelain Bonding Resin, Bisco); Group B, silane (S) and ANS; Group C, hydrofluoric acid (HF), S, and ANS; Group D, MUA; Group E, HF and MUA...
May 2017: Restorative Dentistry & Endodontics
https://www.readbyqxmd.com/read/28497501/assessing-the-role-of-hartree-fock-exchange-correlation-energy-and-long-range-corrections-in-evaluating-ionization-potential-and-electron-affinity-in-density-functional-theory
#20
Talapunur Vikramaditya, Shiang-Tai Lin
Accurate determination of ionization potentials (IPs), electron affinities (EAs), fundamental gaps (FGs), and HOMO, LUMO energy levels of organic molecules play an important role in modeling and predicting the efficiencies of organic photovoltaics, OLEDs etc. In this work, we investigate the effects of Hartree Fock (HF) Exchange, correlation energy, and long range corrections in predicting IP and EA in Hybrid Functionals. We observe increase in percentage of HF exchange results in increase of IPs and decrease in EAs...
May 11, 2017: Journal of Computational Chemistry
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