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Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Laura J Mosher, Sean C Godar, Marc Morissette, Kenneth M McFarlin, Simona Scheggi, Carla Gambarana, Stephen C Fowler, Thérèse Di Paolo, Marco Bortolato
The enzyme steroid 5α-reductase 2 (5αR2) catalyzes the conversion of testosterone into the potent androgen 5α-dihydrotestosterone. Previous investigations showed that 5αR2 is expressed in key brain areas for emotional and socio-affective reactivity, yet the role of this enzyme in behavioral regulation remains mostly unknown. Here, we profiled the behavioral characteristics of 5αR2 heterozygous (HZ) and knockout (KO) mice, as compared with their wild-type (WT) littermates. While male 5αR2 KO mice displayed no overt alterations in motoric, sensory, information-processing and anxiety-related behaviors, they exhibited deficits in neurobehavioral correlates of dominance (including aggression against intruders, mating, and tube dominance) as well as novelty-seeking and risk-taking responses...
February 16, 2018: Psychoneuroendocrinology
Krzysztof Karpowicz, Katarzyna Krych, Małgorzata Karpowicz, Witold Nowak, Piotr Gronek
The map of candidate genes that can potentially affect physical fitness becomes larger every year, and they are associated with such aspects as respiratory and cardiovascular stability; body build and composition - especially muscle mass and strength; carbohydrate and lipid metabolism; response to training; and exercise intolerance.The aim of this study was to analyze the relationship between the CA repeat polymorphism of the P1 promoter of the IGF1 gene and the structure of motor skills in the two groups of Polish young athletes in 2011-2013...
March 15, 2018: Acta Biochimica Polonica
Phu Hai Nguyen, Erika I Lutter, Ted Hackstadt
Chlamydia trachomatis is an obligate intracellular bacterium that replicates within a vacuole termed an inclusion. At the end of their intracellular developmental cycle, chlamydiae are released either by lysis of the host cell or extrusion of the intact inclusion. The inclusion membrane is extensively modified by the insertion of type III secreted inclusion membrane proteins, Incs, which contribute to inclusion membrane structure and facilitate host-pathogen interactions. An interaction was identified between the inclusion membrane protein, MrcA, and the Ca2+ channel inositol-1,4,5-trisphosphate receptor, type 3 (ITPR3)...
March 2018: PLoS Pathogens
Christopher J Lambert, Briana C Freshner, Arlen Chung, Tamara J Stevenson, D Miranda Bowles, Raheel Samuel, Bruce K Gale, Joshua L Bonkowsky
Zebrafish are a valuable model organism in biomedical research. Their rapid development, ability to model human diseases, utility for testing genetic variants identified from next-generation sequencing, amenity to CRISPR mutagenesis, and potential for therapeutic compound screening, has led to their wide-spread adoption in diverse fields of study. However, their power for large-scale screens is limited by the absence of automated genotyping tools for live animals. This constrains potential drug screen options, limits analysis of embryonic and larval phenotypes, and requires raising additional animals to adulthood to ensure obtaining an animal of the desired genotype...
2018: PloS One
Qiang Lu, Guanghui Liu, Chuanli Xiao, Chuanzhen Hu, Shiwu Zhang, Ronald X Xu, Kaiqin Chu, Qianming Xu, Zachary J Smith
In this paper we report the development of a cost-effective, modular, open source, and fully automated slide-scanning microscope, composed entirely of easily available off-the-shelf parts, and capable of bright field and fluorescence modes. The automated X-Y stage is composed of two low-cost micrometer stages coupled to stepper motors operated in open-loop mode. The microscope is composed of a low-cost CMOS sensor and low-cost board lenses placed in a 4f configuration. The system has approximately 1 micron resolution, limited by the f/# of available board lenses...
2018: PloS One
Olivier Beauchet, Cyrille P Launay, Harmehr Sekhon, Jennifer Gautier, Julia Chabot, Elise J Levinoff, Gilles Allali
BACKGROUND: Assessment of changes in higher levels of gait control with aging is important to better understand age-related gait instability, with the perspective to improve the screening of individuals at risk for falls. The comparison between actual Timed Up and Go test (aTUG) and its imagined version (iTUG) is a simple clinical way to assess age-related changes in gait control. The modulations of iTUG performances by body positions and motor imagery (MI) strategies with normal aging have not been evaluated yet...
2018: PloS One
Dasa Cizkova, Veronika Cubinkova, Tomas Smolek, Adriana-Natalia Murgoci, Jan Danko, Katarina Vdoviakova, Filip Humenik, Milan Cizek, Jusal Quanico, Isabelle Fournier, Michel Salzet
It was recently shown that the conditioned medium (CM) of mesenchymal stem cells can enhance viability of neural and glial cell populations. In the present study, we have investigated a cell-free approach via CM from rat bone marrow stromal cells (MScCM) applied intrathecally (IT) for spinal cord injury (SCI) recovery in adult rats. Functional in vitro test on dorsal root ganglion (DRG) primary cultures confirmed biological properties of collected MScCM for production of neurosphere-like structures and axon outgrowth...
March 15, 2018: International Journal of Molecular Sciences
Valentina Camomilla, Elena Bergamini, Silvia Fantozzi, Giuseppe Vannozzi
Recent technological developments have led to the production of inexpensive, non-invasive, miniature magneto-inertial sensors, ideal for obtaining sport performance measures during training or competition. This systematic review evaluates current evidence and the future potential of their use in sport performance evaluation. Articles published in English (April 2017) were searched in Web-of-Science, Scopus, Pubmed, and Sport-Discus databases. A keyword search of titles, abstracts and keywords which included studies using accelerometers, gyroscopes and/or magnetometers to analyse sport motor-tasks performed by athletes (excluding risk of injury, physical activity, and energy expenditure) resulted in 2040 papers...
March 15, 2018: Sensors
Lívia H Morais, Daniela B Hara, Maíra A Bicca, Anicleto Poli, Reinaldo N Takahashi
The factors that trigger the pathophysiology of Parkinson's disease (PD) are unknown. However, it is suggested that environmental factors, such as exposure to pesticides, play an important role, in addition to genetic predisposition and aging. Early signs of PD can appear in the gastrointestinal (GI) tract and in the olfactory system, preceding the onset of motor impairments by many years. The present study assessed the effects of oral rotenone administration (30 mg/kg) in inducing GI and olfactory dysfunctions associated with PD in mice...
April 2018: Behavioural Pharmacology
Daniela Schulz
Similar doses of caffeine have been shown to produce either anxiolytic or anxiogenic effects in rats. The reasons for these conflicting results are not known. We hypothesized that food deprivation stress interacts with the stimulant effects of caffeine to increase anxiety-like behavior. We tested 32 female Sprague Dawley rats in a dim open field for 10 min. Half of the animals were food deprived for 24 h and injected (intraperitoneal) with caffeine (30 mg/kg; n=7) or deionized water (n=8) 20 min before the open field test...
March 14, 2018: Behavioural Pharmacology
Mariana Matias, Samuel Silvestre, Amílcar Falcão, Gilberto Alves
Purpose - During the discovery and development of new drugs, compounds with low aqueous solubility pose special challenges in their pharmacological evaluation and, therefore, the selection of appropriate vehicles to administer the compounds of interest is determinant for the quality of the results generated during the in vivo non-clinical studies. This work aimed to evaluate the motor deficit (as a surrogate of neurotoxicity) of several administration/delivery vehicles through the rotarod performance test. Methods - Trained male CD-1 mice were intraperitoneally administered with the following vehicles: dimethyl sulfoxide (DMSO), aqueous sodium chloride (NaCl) 0...
2018: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
Miguel A Marioni, Marcos Penedo, Mirko Baćani, Johannes Schwenk, Hans Josef Hug
Mallinson's idea that some spin textures in planar magnetic structures could produce an enhancement of the magnetic flux on one side of the plane at the expense of the other gave rise to permanent magnet configurations known as Halbach magnet arrays. Applications range from wiggler magnets in particle accelerators and free electron lasers, to motors, to magnetic levitation trains, but exploiting Halbach arrays in micro- or nanoscale spintronics devices requires solving the problem of fabrication and field metrology below 100 μm size...
March 15, 2018: Nano Letters
Guo Zhang, Wang-Ding Yuan, Ferdinand S Vilim, Elena V Romanova, Ke Yu, Si-Yuan Yin, Zi-Wei Le, Ying-Yu Xue, Ting-Ting Chen, Guo-Kai Chen, Song-An Chen, Elizabeth C Cropper, Jonathan V Sweedler, Klaudiusz R Weiss, Jian Jing
When individual neurons in a circuit contain multiple neuropeptides, these peptides can target different sets of follower neurons. This endows the circuit with a certain degree of flexibility. Here we identified a novel family of peptides, the Aplysia SPTR-Gene Family-Derived peptides (apSPTR-GF-DPs). We demonstrated apSPTR-GF-DPs, particularly apSPTR-GF-DP2, are expressed in the Aplysia CNS using immunohistochemistry and MALDI-TOF MS. apSPTR-GF-DP2 is present in single projection neurons, e.g., in the cerebral-buccal interneuron-12 (CBI-12)...
March 15, 2018: ACS Chemical Neuroscience
V S Klimov, V V Kel'makov, N V Chishchina, A V Evsyukov
AIM: The study aim was to evaluate the effectiveness of intraoperative monitoring of motor evoked potentials (MEPs) for predicting changes in the neurological status of patients with cervical spinal cord tumors in the early postoperative period. MATERIAL AND METHODS: The study included 74 patients with intradural cervical spinal cord tumors who were operated on using motor evoked potential monitoring in the period from 2013 to 2016. There were 29 (39%) males and 46 (61%) females...
2018: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
Sidney Bovet, Henrique Galvan Debarba, Bruno Herbelin, Eray Molla, Ronan Boulic
With the broad range of motion capture devices available on the market, it is now commonplace to directly control the limb movement of an avatar during immersion in a virtual environment. Here, we study how the subjective experience of embodying a full-body controlled avatar is influenced by motor alteration and self-contact mismatches. Self-contact is in particular a strong source of passive haptic feedback and we assume it to bring a clear benefit in terms of embodiment. For evaluating this hypothesis, we experimentally manipulate self-contacts and the virtual hand displacement relatively to the body...
April 2018: IEEE Transactions on Visualization and Computer Graphics
Ayush Bhargava, Jeffrey W Bertrand, Anand K Gramopadhye, Kapil C Madathil, Sabarish V Babu
With costs of head-mounted displays (HMDs) and tracking technology decreasing rapidly, various virtual reality applications are being widely adopted for education and training. Hardware advancements have enabled replication of real-world interactions in virtual environments to a large extent, paving the way for commercial grade applications that provide a safe and risk-free training environment at a fraction of the cost. But this also mandates the need to develop more intrinsic interaction techniques and to empirically evaluate them in a more comprehensive manner...
April 2018: IEEE Transactions on Visualization and Computer Graphics
Haley Adams, Gayathri Narasimham, John Rieser, Sarah Creem-Regehr, Jeanine Stefanucci, Bobby Bodenheimer
As virtual reality expands in popularity, an increasingly diverse audience is gaining exposure to immersive virtual environments (IVEs). A significant body of research has demonstrated how perception and action work in such environments, but most of this work has been done studying adults. Less is known about how physical and cognitive development affect perception and action in IVEs, particularly as applied to preteen and teenage children. Accordingly, in the current study we assess how preteens (children aged 8-12 years) and teenagers (children aged 15-18 years) respond to mismatches between their motor behavior and the visual information presented by an IVE...
April 2018: IEEE Transactions on Visualization and Computer Graphics
Joery P Molenaar, Nicol C Voermans, Lysanne A de Jong, Dick F Stegeman, Jonne Doorduin, Baziel G van Engelen
Impaired muscle relaxation is a feature of many neuromuscular disorders. However, there are few tests available to quantify muscle relaxation. Transcranial magnetic stimulation (TMS) of the motor cortex can induce muscle relaxation by abruptly inhibiting corticospinal drive. The aim of our study is to investigate if repeatability and reliability of TMS-induced relaxation is greater than voluntary relaxation. Furthermore, effects of sex, cooling and fatigue on muscle relaxation properties were studied. Muscle relaxation of deep finger flexors was assessed in twenty-five healthy subjects (14 M and 11 F, aged 39...
March 15, 2018: Journal of Applied Physiology
Hui Zhu, Zhixing Li, Jinglei Lv, Renliang Zhao
OBJECTIVE: Cerebral small vessel disease (CSVD) describes a syndrome of neuroimaging, pathological, and associated clinical features caused by small intracranial vascular lesions, which commonly coexists with large artery atherosclerosis (LAA) and has been identified as a major cause of motor impairment over time. In this review, we aim to summarize the relationship between CSVD and LAA, and discuss the effects of CSVD on the clinical outcome of patients with ischemic stroke caused by LAA...
March 15, 2018: Neurological Research
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