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Angela Luisa Prendin, Stefan Mayr, Barbara Beikircher, Georg von Arx, Giai Petit
As a tree grows taller, the increase in gravitational pressure and path length resistance results in lower water potentials at a given flow rate and higher carbon construction costs to transport a given amount of water to the leaves. We investigated how hydraulic safety and efficiency are coordinated under the constraints of higher cavitation risks and higher carbon construction costs with increasing tree height. We combined measurements of xylem tracheid anatomical traits with the vulnerability to drought-induced embolism and hydraulic conductivity of the apical shoots of 2- to 37-m tall Picea abies trees growing at two sites in the Dolomites (Italian Eastern Alps)...
June 15, 2018: Tree Physiology
Shaohua Tang, Manli Jia, Chong Chen, Huanzheng Li, Lin Hu, Zhaotang Luan, Xueqin Xu, Jianxin Lyu
OBJECTIVE: To explore the clinical features and genetic mutation in a family affected with non-syndrome X-linked intellectual disability (NS-XLID) using whole exome sequencing (WES). METHODS: Multiplex ligation-dependent probe amplification (MLPA) was applied to screen potential mutations of Fragile X syndrome (FXS). Whole exome sequencing (WES) and Sanger sequencing were screen for pathological mutations. RESULTS: FXS was excluded by MLPA analysis...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Cheng Huang, Mingmin Zhong, Zhengmao Wu
Using a three-dimensional classical ensemble method, we present a theoretical study of nonsequential double ionization of ArXe dimer aligned along the minor axis of the elliptically polarized laser pulse. Numerical results show that NSDI probability firstly increases and then decreases with the laser ellipticity increasing, which is different from atoms. Moreover, the correlated electron momentum spectra from elliptical polarization are always asymmetric, and the asymmetry is enhanced as the ellipticity increases...
June 8, 2018: Scientific Reports
Zhidong Liu, Zhuangzhi Zhang, Susan Lindtner, Zhenmeiyu Li, Zhejun Xu, Song Wei, Qifei Liang, Yan Wen, Guangxu Tao, Yan You, Bin Chen, Yanling Wang, John L Rubenstein, Zhengang Yang
Immature neurons generated by the subpallial MGE tangentially migrate to the cortex where they become parvalbumin-expressing (PV+) and somatostatin (SST+) interneurons. Here, we show that the Sp9 transcription factor controls the development of MGE-derived cortical interneurons. SP9 is expressed in the MGE subventricular zone and in MGE-derived migrating interneurons. Sp9 null and conditional mutant mice have approximately 50% reduction of MGE-derived cortical interneurons, an ectopic aggregation of MGE-derived neurons in the embryonic ventral telencephalon, and an increased ratio of SST+/PV+ cortical interneurons...
June 6, 2018: Cerebral Cortex
Ana I García-Cervigón, José M Olano, Georg von Arx, Alex Fajardo
Background and Aims: Trees adjust the configuration of their conductive system in response to changes in water availability, maximizing efficiency in wet environments and increasing safety in dry habitats. However, evidence of this general trend is not conclusive. Generalist species growing across broad climatic gradients provide an ideal framework to assess intra-specific xylem adjustments under contrasting environmental conditions. Our aims were to compare the response of xylem traits to variations in precipitation of two co-occurring generalist tree species, and to assess climate control on xylem trait variability and co-ordination...
May 24, 2018: Annals of Botany
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron, Fowzy Al-Delami, Bryan J Lynch, Mary D King, Nicholas M Allen
Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement disorder can be challenging to recognise and treat. We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. ARX is a transcription factor that plays a critical role in cortical neuronal development and is associated with a range of important neurodevelopmental disorders depending on the site of the pathogenic variant...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
Jingxia Gao, Tamara J Stevenson, Adam D Douglass, Joshua P Barrios, Joshua L Bonkowsky
Axon guidance in vertebrates is controlled by genetic cascades as well as by intrinsic activity-dependent refinement of connections. Midline axon crossing is one of the best studied pathfinding models and is fundamental to the establishment of bilaterally symmetric nervous systems. However, it is not known whether crossing requires intrinsic activity in axons, and what controls that activity. Further, a mechanism linking neuronal activity and gene expression has not been identified for axon pathfinding. Using embryonic zebrafish, we found that the NMDA receptor (NMDAR) NR1...
March 2018: ENeuro
Vinh Kha, Aguida S Foerster, Susan Bennett, Michael A Nitsche, Filip Stefanovic, Anirban Dutta
Induction of neuroplasticity by transcranial direct current stimulation (tDCS) applied to the primary motor cortex facilitates motor learning of the upper extremities in healthy humans. The impact of tDCS on lower limb functions has not been studied extensively so far. In this study, we applied a system identification approach to investigate the impact of anodal transcranial direct current stimulation of the leg area of the motor cortex via the human visuo-myoelectric controller. The visuo-myoelectric reaching task (VMT) involves ballistic muscle contraction after a visual cue...
2018: Frontiers in Neuroscience
Michael M. Bornstein, Claude Andreoni, Thomas Meier, Thomas von Arx
No abstract text is available yet for this article.
May 14, 2018: Swiss Dental Journal
Thomas von Arx von Arx, Kaori Tamura, Oba Yukiya, Scott Lozanoff
Vascular supply is key for maintenance of healthy tissue conditions but also with regard to healing following trauma or therapeutic interventions. The face is probably the most exposed part of the body and any changes of vascularity are readily visible (skin blanching, ecchymosis, hematoma, edema). With regard to the arterial supply, all vessels reaching the facial skin originate from the bilateral common carotid arteries. The ophthal­mic artery is considered the major arterial shunt between the internal and external carotid artery systems...
May 14, 2018: Swiss Dental Journal
N González-Muñoz, F Sterck, J M Torres-Ruiz, G Petit, H Cochard, G von Arx, A Lintunen, M C Caldeira, G Capdeville, P Copini, R Gebauer, L Grönlund, T Hölttä, R Lobo-do-Vale, M Peltoniemi, A Stritih, J Urban, S Delzon
Many studies have reported that hydraulic properties vary considerably between tree species, but little is known about their intraspecific variation and, therefore, their capacity to adapt to a warmer and drier climate. Here, we quantify phenotypic divergence and clinal variation for embolism resistance, hydraulic conductivity and branch growth, in four tree species, two angiosperms (Betula pendula, Populus tremula) and two conifers (Picea abies, Pinus sylvestris), across their latitudinal distribution in Europe...
2018: PloS One
Daniele Castagneri, Giovanna Battipaglia, Georg von Arx, Arturo Pacheco, Marco Carrer
Understanding how climate affects xylem formation is critical for predicting the impact of future conditions on tree growth and functioning in the Mediterranean region, which is expected to face warmer and drier conditions. However, mechanisms of growth response to climate at different temporal scales are still largely unknown, being complicated by separation between spring and autumn xylogenesis (bimodal temporal pattern) in most species such as Mediterranean pines. We investigated wood anatomical characteristics and carbon stable isotope composition in Mediterranean Pinus pinea L...
April 24, 2018: Tree Physiology
Leon Hilgers, Stefanie Hartmann, Michael Hofreiter, Thomas von Rintelen
The radula is the central foraging organ and apomorphy of the Mollusca. However, in contrast to other innovations, including the mollusk shell, genetic underpinnings of radula formation remain virtually unknown. Here, we present the first radula formative tissue transcriptome using the viviparous freshwater snail Tylomelania sarasinorum and compare it to foot tissue and the shell-building mantle of the same species. We combine differential expression, functional enrichment, and phylostratigraphic analyses to identify both specific and shared genetic underpinnings of the three tissues as well as their dominant functions and evolutionary origins...
July 1, 2018: Molecular Biology and Evolution
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, Ghayda M Mirzaa, James T Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill, Candace T Myers, Jean-Baptiste Rivière, Maha S Zaki, Joseph G Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M Elizabeth Ross, David H Ledbetter, Renzo Guerrini, William B Dobyns
PurposeTo estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.MethodsWe collected DNA from 756 children with lissencephaly over 30 years. Many were tested for deletion 17p13.3 and mutations of LIS1, DCX, and ARX, but few other genes. Among those tested, 216 remained unsolved and were tested by a targeted panel of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, TUBG1, KIF2A, KIF5C, DYNC1H1, RELN, and VLDLR) or by whole-exome sequencing...
April 19, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Aline Dubos, Hamid Meziane, Giovanni Iacono, Aurore Curie, Fabrice Riet, Christelle Martin, Nadège Loaëc, Marie-Christine Birling, Mohammed Selloum, Elisabeth Normand, Guillaume Pavlovic, Tania Sorg, Henk G Stunnenberg, Jamel Chelly, Yann Humeau, Gaëlle Friocourt, Yann Hérault
The aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons in the forebrain. ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24 bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without epilepsy. To understand the functional consequences of this mutation, we generated a partially humanized mouse model carrying the c...
June 15, 2018: Human Molecular Genetics
Wilmar Wiersinga, Miloš Žarković, Luigi Bartalena, Simone Donati, Petros Perros, Onyebuchi Okosieme, Daniel Morris, Nicole Fichter, Jurg Lareida, Georg von Arx, Chantal Daumerie, Maria-Christina Burlacu, George Kahaly, Susanne Pitz, Biljana Beleslin, Jasmina Ćirić, Goksun Ayvaz, Onur Konuk, Füsun Balos Törüner, Mario Salvi, Danila Covelli, Nicola Curro, Laszlo Hegedüs, Thomas Brix
OBJECTIVE: To construct a predictive score for the development or progression of Graves' orbitopathy (GO) in Graves' hyperthyroidism (GH). DESIGN: Prospective observational study in patients with newly diagnosed GH, treated with antithyroid drugs (ATD) for 18 months at ten participating centers from EUGOGO in 8 European countries. METHODS: 348 patients were included with untreated GH but without obvious GO. Mixed effects logistic regression was used to determine the best predictors...
June 2018: European Journal of Endocrinology
Farzin Piltan, Jong-Myon Kim
An effective bearing fault detection and diagnosis (FDD) model is important for ensuring the normal and safe operation of machines. This paper presents a reliable model-reference observer technique for FDD based on modeling of a bearing's vibration data by analyzing the dynamic properties of the bearing and a higher-order super-twisting sliding mode observation (HOSTSMO) technique for making diagnostic decisions using these data models. The HOSTSMO technique can adaptively improve the performance of estimating nonlinear failures in rolling element bearings (REBs) over a linear approach by modeling 5 degrees of freedom under normal and faulty conditions...
April 7, 2018: Sensors
Boris Cheval, Stéphane Cullati, Jesper Pihl-Thingvad, Denis Mongin, Martina Von Arx, Pierre Chopard, Delphine S Courvoisier
INTRODUCTION: Healthcare professionals are particularly at risk of developing numerous physical and psychological health problems. The experiences of emotional burden associated with providing healthcare, notably care-related regret, have been associated with these health problems, but only using cross-sectional data so far. Evidence of a causal impact of regret has not been assessed. The Impact of CAre-related Regret Upon Sleep (ICARUS) study is the first prospective and international cohort study established to examine how newly practising healthcare professionals adapt to their challenging job by assessing the impact of care-related regret on sleep and job quitting...
March 27, 2018: BMJ Open
Yukari Fujita, Junji Kozawa, Hiromi Iwahashi, Sho Yoneda, Sae Uno, Hidetoshi Eguchi, Hiroaki Nagano, Akihisa Imagawa, Iichiro Shimomura
AIMS/INTRODUCTION: Pancreatic α-cell area and the α- to β-cell area ratio (α/β) might be associated with glucose tolerance. The aim was to clarify how these histological parameters change as glucose tolerance deteriorates. MATERIALS AND METHODS: We analyzed pancreatic tissues obtained from pancreatectomies of 43 patients. We evaluated the relationships between α-cell area or the α/β and various clinical parameters. Additionally, we analyzed α-cell proliferation and the expression patterns of various pancreatic transcription factors...
March 23, 2018: Journal of Diabetes Investigation
Muhammad Zaman, Muhammad Hanif, Zaib Ali Shaheryar
The purpose of the study was to develop Tizanidine HCl (TZN) and Meloxicam (MLX) loaded bilayer mucoadhesive films intended for buccal administration, aiming to enhance the bioavailability. Bilayer films were prepared by solvent evaporation technique selecting arabinoxylan (ARX) as a sustained release (SR) layer forming polymer and hydroxypropyl methylcellulose (HPMC) E-15 as an immediate release (IR) layer-forming polymer. Prepared films were subjected to in-vitro drug release, surface morphology, mechanical strength, compatibility of the ingredients, drug contents, ex-vivo mucoadhesion strength and drug permeation...
2018: PloS One
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