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https://www.readbyqxmd.com/read/28176220/does-early-response-to-intravenous-glucocorticoids-predict-the-final-outcome-in-patients-with-moderate-to-severe-and-active-graves-orbitopathy
#1
L Bartalena, G Veronesi, G E Krassas, W M Wiersinga, C Marcocci, M Marinò, M Salvi, C Daumerie, C Bournaud, M Stahl, L Sassi, C Azzolini, K G Boboridis, M P Mourits, M R Soeters, L Baldeschi, M Nardi, N Currò, A Boschi, M Bernard, G von Arx, P Perros, G J Kahaly
PURPOSE: Intravenous glucocorticoids (ivGCs) given as 12-weekly infusions are the first-line treatment for moderate-to-severe and active Graves' orbitopathy (GO), but they are not always effective. In this study, we evaluated whether response at 6 weeks correlated with outcomes at 12 (end of intervention) and 24 (follow-up) weeks, particularly in patients initially unresponsive. METHODS: Our database (Bartalena et al. J Clin Endocrinol Metab 97:4454-4463, 10), comprising 159 patients given three different cumulative doses of methylprednisolone (2...
February 7, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28174645/a-novel-mutation-in-the-oar-domain-of-the-arx-gene
#2
Alejandra Tapie, Natalia Pi-Denis, Jorge Souto, Alejandra Vomero, Gabriel Peluffo, María Boidi, Martín Ciganda, Nicolás Curbelo, Victor Raggio, Leda Roche, Lucía Pastro
Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutation.
February 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28154547/gait-in-children-with-attention-deficit-hyperactivity-disorder-in-a-dual-task-paradigm
#3
Olivia Manicolo, Alexander Grob, Priska Hagmann-von Arx
The aim was to examine gait in school-aged children with attention-deficit hyperactivity disorder (ADHD) and typically developing controls in a dual-task paradigm. Thirty children with ADHD (without or off medication) aged 7-13 years and 28 controls walked without an additional task (single-task walking) and while performing a concurrent cognitive or motor task (dual-task walking). Gait was assessed using GAITRite recordings of spatiotemporal and variability gait parameters. Compared to single-task walking, dual-tasking significantly altered walking performance of children with and without ADHD, whereby dual-task effects on gait were not different between the two groups...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28153982/diel-rhythms-and-sex-differences-in-the-locomotor-activity-of-hawkmoths
#4
Geoffrey T Broadhead, Trisha Basu, Martin von Arx, Robert A Raguso
Circadian patterns of activity are considered ubiquitous and adaptive, and are often invoked as a mechanism for temporal niche partitioning. Yet, comparisons of rhythmic behavior in related animal species are uncommon. This is particularly true of Lepidoptera (butterflies and moths), in which studies of whole-animal patterns of behavior are far outweighed by examinations of tissue-specific molecular clocks. Here, we used a comparative approach to examine the circadian patterns of flight behavior in Manduca sexta and Hyles lineata, two distantly related species of hawkmoth (Sphingidae)...
February 2, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28150386/an-emerging-female-phenotype-with-loss-of-function-mutations-in-the-aristaless-related-homeodomain-transcription-factor-arx
#5
Tessa Mattiske, Ching Moey, Lisenka E Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi, Cheryl Shoubridge
The devastating clinical presentation of X-linked lissencephaly with abnormal genitalia (XLAG) is invariably caused by loss of function mutations in the Aristaless-related homeobox (ARX) gene. Mutations in this X-chromosome gene contribute to intellectual disability (ID) with co-morbidities including seizures and movement disorders such as dystonia in affected males. The detection of affected females with mutations in ARX is increasing. We present a family with multiple affected individuals, including two females...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28134967/vertical-root-fractures-of-endodontically-treated-posterior-teeth-a-histologic-analysis-with-clinical-and-radiographic-correlates
#6
Thomas von Arx, Dieter Bosshardt
Vertical root fractures (VRFs) usually develop slowly, unnoticed by the patient until clinical signs and symptoms become apparent. In endodontically treated teeth, a VRF is a typical cause for extraction. The objective of the present study was the histologic analysis of VRFs in extracted, endodontically treated premolars and molars. In addition, clinical and radiographic findings of these VRF-affected teeth were retrospectively evaluated. Thirty extracted teeth with a clinically diagnosed VRF were embedded in methylmethacrylate...
2017: Swiss Dental Journal
https://www.readbyqxmd.com/read/28130220/how-does-climate-influence-xylem-morphogenesis-over-the-growing-season-insights-from-long-term-intra-ring-anatomy-in-picea-abies
#7
Daniele Castagneri, Patrick Fonti, Georg von Arx, Marco Carrer
BACKGROUND AND AIMS: During the growing season, the cambium of conifer trees produces successive rows of xylem cells, the tracheids, that sequentially pass through the phases of enlargement and secondary wall thickening before dying and becoming functional. Climate variability can strongly influence the kinetics of morphogenetic processes, eventually affecting tracheid shape and size. This study investigates xylem anatomical structure in the stem of Picea abies to retrospectively infer how, in the long term, climate affects the processes of cell enlargement and wall thickening...
January 27, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28110737/a-study-on-stability-analysis-of-atrial-repolarization-variability-using-arx-model-in-sinus-rhythm-and-atrial-tachycardia-ecgs
#8
J Sivaraman, G Uma, P Langley, M Umapathy, S Venkatesan, G Palanikumar
BACKGROUND: The interaction between the PTa and PP interval dynamics from the surface ECG is seldom explained. Mathematical modeling of these intervals is of interest in finding the relationship between the heart rate and repolarization variability. OBJECTIVE: The goal of this paper is to assess the bounded input bounded output (BIBO) stability in PTa interval (PTaI) dynamics using autoregressive exogenous (ARX) model and to investigate the reason for causing instability in the atrial repolarization process...
December 2016: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/28103279/aristaless-related-homeobox-arx-interacts-with-%C3%AE-catenin-bcl9-and-p300-to-regulate-canonical-wnt-signaling
#9
Il-Taeg Cho, Youngshin Lim, Jeffrey A Golden, Ginam Cho
Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders. How mutations in this single transcription factor can result in such a broad range of phenotypes remains poorly understood. We hypothesized that ARX functions through distinct interactions with specific transcription factors/cofactors to regulate unique target genes in different cell types. To identify ARX interacting proteins, we performed an unbiased proteomics screen and identified several components of the Wnt/β-catenin signaling pathway, including β-catenin (CTNNB1), B-cell CLL/lymphoma 9 (BCL9) and leucine rich repeat flightless interacting protein 2 (LRRFIP2), in cortical progenitor cells...
2017: PloS One
https://www.readbyqxmd.com/read/28092593/robust-estimation-of-arx-models-with-time-varying-time-delays-using-variational-bayesian-approach
#10
Yujia Zhao, Alireza Fatehi, Biao Huang
This paper is concerned with robust identification of processes with time-varying time delays. In reality, the delay values do not simply change randomly, but there is a correlation between consecutive delays. In this paper, the correlation of time delay is modeled by the transition probability of a Markov chain. Furthermore, the measured data are often contaminated by outliers, and therefore, t-distribution is adopted to model the measurement noise. The variational Bayesian (VB) approach is applied to estimate the model parameters along with time delays...
January 10, 2017: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28035656/the-internal-representation-of-head-orientation-differs-for-conscious-perception-and-balance-control
#11
Brian H Dalton, Brandon G Rasman, J Timothy Inglis, Jean-Sébastien Blouin
KEY POINTS: We tested perceived head-on-feet orientation and the direction of vestibular-evoked balance responses in passively and actively held head-turned postures. The direction of vestibular-evoked balance responses was not aligned with perceived head-on-feet orientation while maintaining prolonged passively held head-turned postures. Furthermore, static visual cues of head-on-feet orientation did not update the estimate of head posture for the balance controller. A prolonged actively held head-turned posture did not elicit a rotation in the direction of the vestibular-evoked balance response despite a significant rotation in perceived angular head posture...
December 30, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#12
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27993987/the-mammal-specific-pdx1-area-ii-enhancer-has-multiple-essential-functions-in-early-endocrine-cell-specification-and-postnatal-%C3%AE-cell-maturation
#13
Yu-Ping Yang, Mark A Magnuson, Roland Stein, Christopher V E Wright
The transcription factor Pdx1 is required for multiple aspects of pancreatic organogenesis. It remains unclear to what extent Pdx1 expression and function depend upon trans-activation through 5' conserved cis-regulatory regions and, in particular, whether the mammal-specific Area II (-2139 to -1958 bp) affects minor or major aspects of organogenesis. We show that Area II is a primary effector of endocrine-selective transcription in epithelial multipotent cells, nascent endocrine progenitors, and differentiating and mature β cells in vivo Pdx1(ΔAREAII/-) mice exhibit a massive reduction in endocrine progenitor cells and progeny hormone-producing cells, indicating that Area II activity is fundamental to mounting an effective endocrine lineage-specification program within the multipotent cell population...
January 15, 2017: Development
https://www.readbyqxmd.com/read/27966542/epilepsy-causing-sequence-variations-in-sik1-disrupt-synaptic-activity-response-gene-expression-and-affect-neuronal-morphology
#14
Christoph Pröschel, Jeanne N Hansen, Adil Ali, Emily Tuttle, Michelle Lacagnina, Georgia Buscaglia, Marc W Halterman, Alex R Paciorkowski
SIK1 syndrome is a newly described developmental epilepsy disorder caused by heterozygous mutations in the salt-inducible kinase SIK1. To better understand the pathophysiology of SIK1 syndrome, we studied the effects of SIK1 pathogenic sequence variations in human neurons. Primary human fetal cortical neurons were transfected with a lentiviral vector to overexpress wild-type and mutant SIK1 protein. We evaluated the transcriptional activity of known downstream gene targets in neurons expressing mutant SIK1 compared with wild type...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27959823/decoupled-arx-and-rbf-neural-network-modeling-using-pca-and-ga-optimization-for-nonlinear-distributed-parameter-systems
#15
Ridong Zhang, Jili Tao, Renquan Lu, Qibing Jin
Modeling of distributed parameter systems is difficult because of their nonlinearity and infinite-dimensional characteristics. Based on principal component analysis (PCA), a hybrid modeling strategy that consists of a decoupled linear autoregressive exogenous (ARX) model and a nonlinear radial basis function (RBF) neural network model are proposed. The spatial-temporal output is first divided into a few dominant spatial basis functions and finite-dimensional temporal series by PCA. Then, a decoupled ARX model is designed to model the linear dynamics of the dominant modes of the time series...
December 8, 2016: IEEE Transactions on Neural Networks and Learning Systems
https://www.readbyqxmd.com/read/27939565/adaptive-mpc-based-on-mimo-arx-laguerre-model
#16
Imen Ben Abdelwahed, Abdelkader Mbarek, Kais Bouzrara
This paper proposes a method for synthesizing an adaptive predictive controller using a reduced complexity model. This latter is given by the projection of the ARX model on Laguerre bases. The resulting model is entitled MIMO ARX-Laguerre and it is characterized by an easy recursive representation. The adaptive predictive control law is computed based on multi-step-ahead finite-element predictors, identified directly from experimental input/output data. The model is tuned in each iteration by an online identification algorithms of both model parameters and Laguerre poles...
December 7, 2016: ISA Transactions
https://www.readbyqxmd.com/read/27916275/artemisinins-target-gabaa-receptor-signaling-and-impair-%C3%AE-cell-identity
#17
Jin Li, Tamara Casteels, Thomas Frogne, Camilla Ingvorsen, Christian Honoré, Monica Courtney, Kilian V M Huber, Nicole Schmitner, Robin A Kimmel, Roman A Romanov, Caterina Sturtzel, Charles-Hugues Lardeau, Johanna Klughammer, Matthias Farlik, Sara Sdelci, Andhira Vieira, Fabio Avolio, François Briand, Igor Baburin, Peter Májek, Florian M Pauler, Thomas Penz, Alexey Stukalov, Manuela Gridling, Katja Parapatics, Charlotte Barbieux, Ekaterine Berishvili, Andreas Spittler, Jacques Colinge, Keiryn L Bennett, Steffen Hering, Thierry Sulpice, Christoph Bock, Martin Distel, Tibor Harkany, Dirk Meyer, Giulio Superti-Furga, Patrick Collombat, Jacob Hecksher-Sørensen, Stefan Kubicek
Type 1 diabetes is characterized by the destruction of pancreatic β cells, and generating new insulin-producing cells from other cell types is a major aim of regenerative medicine. One promising approach is transdifferentiation of developmentally related pancreatic cell types, including glucagon-producing α cells. In a genetic model, loss of the master regulatory transcription factor Arx is sufficient to induce the conversion of α cells to functional β-like cells. Here, we identify artemisinins as small molecules that functionally repress Arx by causing its translocation to the cytoplasm...
January 12, 2017: Cell
https://www.readbyqxmd.com/read/27867266/a-new-antifungal-isocoumarin-from-the-endophytic-fungus-trichoderma-sp-09-of-myoporum-bontioides-a-gray
#18
Wensheng Li, Jiaxin Xu, Fenqi Li, Li Xu, Chunyuan Li
BACKGROUND: Myoporum bontioides A. Gray is a commonly used medicinal plant in China. Recently, the chemical and bioactive investigations to the endophytic fungi of this plant have led to several new compounds with antimicrobial and cytotoxic activities. To find out more active molecules, the metabolites of an endophytic fungus, Trichoderma sp. 09 from the root of Myoporum bontioides were investigated. MATERIALS AND METHODS: The metabolites were isolated by column chromatography on silica gel, and their structures were elucidated on the basis of spectroscopic analysis[one-dimensional (1D), two-dimensional (2D)-nuclear magnetic resonance (NMR), Mass spectrometry (MS)], and by comparison with the published data...
October 2016: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/27864883/neuronal-sources-of-hedgehog-modulate-neurogenesis-in-the-adult-planarian-brain
#19
Ko W Currie, Alyssa M Molinaro, Bret J Pearson
The asexual freshwater planarian is a constitutive adult, whose central nervous system (CNS) is in a state of constant homeostatic neurogenesis. However, very little is known about the extrinsic signals that act on planarian stem cells to modulate rates of neurogenesis. We have identified two planarian homeobox transcription factors, Smed-nkx2.1 and Smed-arx, which are required for the maintenance of cholinergic, GABAergic, and octopaminergic neurons in the planarian CNS. These very same neurons also produce the planarian hedgehog ligand (Smed-hh), which appears to communicate with brain-adjacent stem cells to promote normal levels of neurogenesis...
November 19, 2016: ELife
https://www.readbyqxmd.com/read/27846270/measurement-invariance-and-latent-mean-differences-in-the-reynolds-intellectual-assessment-scales-rias-does-the-german-version-of-the-rias-allow-a-valid-assessment-of-individuals-with-a-migration-background
#20
Jasmin T Gygi, Elodie Fux, Alexander Grob, Priska Hagmann-von Arx
This study examined measurement invariance and latent mean differences in the German version of the Reynolds Intellectual Assessment Scales (RIAS) for 316 individuals with a migration background (defined as speaking German as a second language) and 316 sex- and age-matched natives. The RIAS measures general intelligence (single-factor structure) and its two components, verbal and nonverbal intelligence (two-factor structure). Results of a multi-group confirmatory factor analysis showed scalar invariance for the two-factor and partial scalar invariance for the single-factor structure...
2016: PloS One
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