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Causal Loops

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https://www.readbyqxmd.com/read/28198522/cardiovascular-drug-utilization-post-implant-is-related-to-clinical-outcome-in-heart-failure-patients-receiving-cardiac-resynchronization-therapy
#1
Zoltan Bakos, Christian Reitan, Anna Werther-Evaldsson, Anders Roijer, Pyotr PLatonov, Rasmus Borgquist
BACKGROUND: In select patients with heart failure, cardiac resynchronization therapy (CRT) is the most common complementary treatment besides medical treatment. We aimed to assess the association between post CRT-implant changes in cardiovascular medication and cardiovascular mortality and heart failure hospitalization. METHODS: 211 patients on optimal medical therapy eligible for CRT were retrospectively included in this study (72 ± 7 years, 80% male, 66% left bundle branch block [LBBB], 48% dilated cardiomyopathy [DCMP]) and investigated at baseline and after 6 months ...
February 15, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28192794/the-genetic-causes-of-nonsyndromic-congenital-retinal-detachment-a-genetic-and-phenotypic-study-of-pakistani-families
#2
Vafa Keser, Ayesha Khan, Sorath Siddiqui, Irma Lopez, Huanan Ren, Raheel Qamar, Javad Nadaf, Jacek Majewski, Rui Chen, Robert K Koenekoop
Purpose: To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). Methods: We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to identify loss of heterozygosity regions in patients, Retinal Information Network panel screening for mutations in currently known retinal genes...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28185595/exploring-pathways-for-building-trust-in-vaccination-and-strengthening-health-system-resilience
#3
Sachiko Ozawa, Ligia Paina, Mary Qiu
BACKGROUND: Trust is critical to generate and maintain demand for vaccines in low and middle income countries. However, there is little documentation on how health system insufficiencies affect trust in vaccination and the process of re-building trust once it has been compromised. We reflect on how disruptions to immunizations systems can affect trust in vaccination and can compromise vaccine utilization. We then explore key pathways for overcoming system vulnerabilities in order to restore trust, to strengthen the resilience of health systems and communities, and to promote vaccine utilization...
November 15, 2016: BMC Health Services Research
https://www.readbyqxmd.com/read/28169219/open-ephys-an-open-source-plugin-based-platform-for-multichannel-electrophysiology
#4
Joshua Handman Siegle, Aarón Cuevas López, Yogi Patel, Kirill Abramov, Shay Ohayon, Jakob Voigts
OBJECTIVE: Closed-loop experiments, in which causal interventions are conditioned on the state of the system under investigation, have become increasingly common in neuroscience. Such experiments can have a high degree of explanatory power, but they require a precise implementation that can be difficult to replicate across laboratories. We sought to overcome this limitation by building open-source software that makes it easier to develop and share algorithms for closed-loop control. APPROACH: We created the Open Ephys GUI, an open-source platform for multichannel electrophysiology experiments...
February 7, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28158040/simple-delay-limited-sideband-locking-with-heterodyne-readout
#5
Christoph Reinhardt, Tina Müller, Jack C Sankey
We present a robust sideband laser locking technique ideally suited for applications requiring low probe power and heterodyne readout. By feeding back to a high-bandwidth voltage-controlled oscillator, we lock a first-order phase-modulation sideband to a high-finesse Fabry-Perot cavity in ambient conditions, achieving a closed-loop bandwidth of 3.5 MHz (with a single integrator) limited fundamentally by the signal delay. The measured transfer function of the closed loop agrees with a simple model based on ideal system components, and from this we suggest a modified design that should achieve a bandwidth exceeding 6 MHz with a near-causally limited feedback gain as high as 4 × 10<sup>7</sup> at 1 kHz...
January 23, 2017: Optics Express
https://www.readbyqxmd.com/read/28123038/intron-1-gata-site-enhances-alas2-expression-indispensably-during-erythroid-differentiation
#6
Yingchi Zhang, Jingliao Zhang, Wenbin An, Yang Wan, Shihui Ma, Jie Yin, Xichuan Li, Jie Gao, Weiping Yuan, Ye Guo, James Douglas Engel, Lihong Shi, Tao Cheng, Xiaofan Zhu
The first intronic mutations in the intron 1 GATA site (int-1-GATA) of 5-aminolevulinate synthase 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesting it could be causal mutations of XLSA. However, the function of this int-1-GATA site during in vivo development remains largely unknown. Here, we generated mice lacking a 13 bp fragment, including this int-1-GATA site (T AGATAA: AGCCCC) and found that hemizygous deletion led to an embryonic lethal phenotype due to severe anemia resulting from a lack of ALAS2 expression, indicating that this non-coding sequence is indispensable for ALAS2 expression in vivo Further analyses revealed that this int-1-GATA site anchored the GATA site in intron 8 (int-8-GATA) and the proximal promoter, forming a long-range loop to enhance ALAS2 expression by an enhancer complex including GATA1, TAL1, LMO2, LDB1 and Pol II at least, in erythroid cells...
January 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28112363/hand1-loss-of-function-mutation-contributes-to-congenital-double-outlet-right-ventricle
#7
Li Li, Juan Wang, Xing-Yuan Liu, Hua Liu, Hong-Yu Shi, Xiao-Xiao Yang, Ning Li, Yan-Jie Li, Ri-Tai Huang, Song Xue, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart defects (CHDs), a wide variety of developmental abnormalities in the structures of the heart and the great thoracic blood vessels, are the most common form of birth defect in humans worldwide. CHDs are accountable for substantial morbidity and are still the leading cause of birth defect‑related deaths. Recent studies have demonstrated the pivotal roles of genetic defects in the pathogenesis of CHDs, and a great number of genetic mutations have been associated with CHDs. Nevertheless, CHDs are a genetically heterogeneous disorder and the genetic basis underlying CHDs in an overwhelming majority of cases remains unclear...
January 20, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27997825/slit-robo-repulsive-signaling-extrudes-tumorigenic-cells-from-epithelia
#8
John Vaughen, Tatsushi Igaki
Cells dynamically interact throughout animal development to coordinate growth and deter disease. For example, cell-cell competition weeds out aberrant cells to enforce homeostasis. In Drosophila, tumorigenic cells mutant for the cell polarity gene scribble (scrib) are actively eliminated from epithelia when surrounded by wild-type cells. While scrib cell elimination depends critically on JNK signaling, JNK-dependent cell death cannot sufficiently explain scrib cell extirpation. Thus, how JNK executed cell elimination remained elusive...
December 19, 2016: Developmental Cell
https://www.readbyqxmd.com/read/27967156/random-holographic-large-worlds-with-emergent-dimensions
#9
Carlo A Trugenberger
I propose a random network model governed by a Gaussian weight corresponding to Ising link antiferromagnetism as a model for emergent quantum space-time. In this model, discrete space is fundamental, not a regularization; its spectral dimension d_{s} is not a model input but is, rather, completely determined by the antiferromagnetic coupling constant. Perturbative terms suppressing triangles and favoring squares lead to locally Euclidean ground states that are Ricci flat "large worlds" with power-law extension...
November 2016: Physical Review. E
https://www.readbyqxmd.com/read/27957850/comparative-toxicogenomic-responses-to-the-flame-retardant-mitp-in-developing-zebrafish
#10
Derik E Haggard, Siba R Das, Robert L Tanguay
Monosubstituted isopropylated triaryl phosphate (mITP) is a major component of Firemaster 550, an additive flame retardant mixture commonly used in polyurethane foams. Developmental toxicity studies in zebrafish established mITP as the most toxic component of FM 550, which causes pericardial edema and heart looping failure. Mechanistic studies showed that mITP is an aryl hydrocarbon receptor (AhR) ligand; however, the cardiotoxic effects of mITP were independent of the AhR. We performed comparative whole genome transcriptomics in wild-type and ahr2(hu3335) zebrafish, which lack functional ahr2, to identify transcriptional signatures causally involved in the mechanism of mITP-induced cardiotoxicity...
December 13, 2016: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/27956748/association-of-rare-missense-variants-in-the-second-intracellular-loop-of-nav1-7-sodium-channels-with-familial-autism
#11
M Rubinstein, A Patowary, I B Stanaway, E McCord, R R Nesbitt, M Archer, T Scheuer, D Nickerson, W H Raskind, E M Wijsman, R Bernier, W A Catterall, Z Brkanac
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identified in de novo cases. To further the understanding of familial autism, we performed whole-exome sequencing on five families in which second- and third-degree relatives were affected. By focusing on novel and protein-altering variants, we identified a small set of candidate genes...
December 13, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27942761/hand1-loss-of-function-mutation-causes-tetralogy-of-fallot
#12
Juan Wang, Xiao-Qing Hu, Yu-Han Guo, Jian-Yun Gu, Jia-Hong Xu, Yan-Jie Li, Ning Li, Xiao-Xiao Yang, Yi-Qing Yang
As the most prevalent form of birth defect in humans worldwide, congenital heart disease (CHD) is responsible for substantial morbidity and is still the leading cause of birth defect-related demises. Increasing evidence demonstrates that genetic defects play an important role in the pathogenesis of CHD, and mutations in multiple genes, especially in those coding for cardiac core transcription factors, have been causally linked to various CHDs. Nevertheless, CHD is a genetically heterogeneous disease and the genetic determinants underpinning CHD in an overwhelming majority of patients remain elusive...
December 10, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27933079/small-rnas-from-bemisia-tabaci-are-transferred-to-solanum-lycopersicum-phloem-during-feeding
#13
Paula J M van Kleeff, Marc Galland, Robert C Schuurink, Petra M Bleeker
The phloem-feeding whitefly Bemisia tabaci is a serious pest to a broad range of host plants, including many economically important crops such as tomato. These insects serve as a vector for various devastating plant viruses. It is known that whiteflies are capable of manipulating host-defense responses, potentially mediated by effector molecules in the whitefly saliva. We hypothesized that, beside putative effector proteins, small RNAs (sRNA) are delivered by B. tabaci into the phloem, where they may play a role in manipulating host plant defenses...
2016: Frontiers in Plant Science
https://www.readbyqxmd.com/read/27926442/intrinsic-motivation-curiosity-and-learning-theory-and-applications-in-educational-technologies
#14
P-Y Oudeyer, J Gottlieb, M Lopes
This chapter studies the bidirectional causal interactions between curiosity and learning and discusses how understanding these interactions can be leveraged in educational technology applications. First, we review recent results showing how state curiosity, and more generally the experience of novelty and surprise, can enhance learning and memory retention. Then, we discuss how psychology and neuroscience have conceptualized curiosity and intrinsic motivation, studying how the brain can be intrinsically rewarded by novelty, complexity, or other measures of information...
2016: Progress in Brain Research
https://www.readbyqxmd.com/read/27906524/the-development-of-autism-spectrum-disorders-variability-and-causal-complexity
#15
REVIEW
Robert H Wozniak, Nina B Leezenbaum, Jessie B Northrup, Kelsey L West, Jana M Iverson
The autism spectrum is highly variable, both behaviorally and neurodevelopmentally. Broadly speaking, four related factors contribute to this variability: (1) genetic processes, (2) environmental events, (3) gene × environment interactions, and (4) developmental factors. Given the complexity of the relevant processes, it appears unlikely that autism spectrum atypicalities can be attributed to any one causal mechanism. Rather, the development of neural atypicality reflects an interaction of genetic and environmental risk factors...
January 2017: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27895572/plastic-changes-in-human-motor-cortical-output-induced-by-random-but-not-closed-loop-peripheral-stimulation-the-curse-of-causality
#16
Kenneth I Brown, Elizabeth R Williams, Felipe de Carvalho, Stuart N Baker
Previous work showed that repetitive peripheral nerve stimulation can induce plastic changes in motor cortical output. Triggering electrical stimulation of central structures from natural activity can also generate plasticity. In this study, we tested whether triggering peripheral nerve stimulation from muscle activity would likewise induce changes in motor output. We developed a wearable electronic device capable of recording electromyogram (EMG) and delivering electrical stimulation under closed-loop control...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27881959/effective-connectivity-within-the-mesocorticolimbic-system-during-resting-state-in-cocaine-users
#17
Suchismita Ray, Xin Di, Bharat B Biswal
Objective: Although effective connectivity between brain regions has been examined in cocaine users during tasks, no effective connectivity study has been conducted on cocaine users during resting-state. In the present functional magnetic resonance imaging study, we examined effective connectivity in resting-brain, between the brain regions within the mesocorticolimbic dopamine system, implicated in reward and motivated behavior, while the chronic cocaine users and controls took part in a resting-state scan by using a spectral Dynamic causal modeling (spDCM) approach...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27862484/%C3%AE-1-adrenoceptor-autoantibodies-increase-the-susceptibility-to-ventricular-arrhythmias-involving-abnormal-repolarization-in-guinea-pigs
#18
Yu-Hui Zhao, Hai-Xia Huang, Ping Liu, Yun-Hui Du, Peng Wang, Wen Wang, Ye Wu, Li Wang, Chang-Sheng Ma, Hui-Rong Liu
What is the central question of this study? High titres of autoantibodies against the second extracellular loop of the β1 -adrenergic receptor (β1 -AAs) can be detected in the sera of patients with ventricular arrhythmias, but a causal relationship between β1 -AAs and ventricular arrhythmias has not been established. What is the main finding and its importance? Monoclonal β1 -AAs (β1 -AR mAbs) were used in the experiments. We showed that β1 -AR mAbs increased susceptibility to ventricular arrhythmias and induced repolarization abnormalities...
January 1, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/27861577/identifying-causal-genes-at-the-multiple-sclerosis-associated-region-6q23-using-capture-hi-c
#19
Paul Martin, Amanda McGovern, Jonathan Massey, Stefan Schoenfelder, Kate Duffus, Annie Yarwood, Anne Barton, Jane Worthington, Peter Fraser, Stephen Eyre, Gisela Orozco
BACKGROUND: The chromosomal region 6q23 has been found to be associated with multiple sclerosis (MS) predisposition through genome wide association studies (GWAS). There are four independent single nucleotide polymorphisms (SNPs) associated with MS in this region, which spans around 2.5 Mb. Most GWAS variants associated with complex traits, including these four MS associated SNPs, are non-coding and their function is currently unknown. However, GWAS variants have been found to be enriched in enhancers and there is evidence that they may be involved in transcriptional regulation of their distant target genes through long range chromatin looping...
2016: PloS One
https://www.readbyqxmd.com/read/27859579/sixty-hertz-stimulation-improves-bradykinesia-and-amplifies-subthalamic-low-frequency-oscillations
#20
REVIEW
Zack Blumenfeld, Mandy Miller Koop, Thomas E Prieto, Lauren A Shreve, Anca Velisar, Emma J Quinn, Megan H Trager, Helen Brontë-Stewart
BACKGROUND: The objective of this study was to investigate the hypothesis that attenuation of subthalamic nucleus (STN) alpha-/beta-band oscillations is causal to improvement in bradykinesia. METHODS: STN local field potentials from a sensing neurostimulator (Activa(®) PC+S; Medtronic, Inc.) and kinematics from wearable sensors were recorded simultaneously during 60- and 140-Hz deep brain stimulation (DBS) in 9 freely moving PD subjects (15 STNs) performing repetitive wrist flexion-extension...
November 8, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
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