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https://www.readbyqxmd.com/read/28432778/cross-species-studies-of-cognition-relevant-to-drug-discovery-a-translational-approach
#1
REVIEW
T W Robbins
This Review advances the case that bidirectional, cross-species translation of findings from experimental animals to and from humans is an important strategy for drug discovery. Animal models of mental disorders require appropriate behavioural or cognitive outcome variables that can be generalized cross-species. One example is the treatment of impulsive behaviour in attention deficit hyperactivity disorder (ADHD) with stimulant drugs. Performance on the stop signal reaction task as an index of impulsivity is improved both in healthy human volunteers and in patients with adult ADHD by stimulant drugs and also by the selective noradrenergic reuptake blocker atomoxetine...
April 22, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28432771/a-rare-variant-in-tor1a-exon-5-associated-with-isolated-dystonia-in-southwestern-chinese
#2
Yuzhou Long, Yang Chen, Yuan Qian, Jianlin Wang, Lihua Luo, Xiaoqin Huang, Li Li, Jiayou Chu, Zhaoqing Yang, Hao Sun
BACKGROUND: TOR1A has been proposed as an important genetic factor in early-onset isolated dystonia. Variants located in the 3' untranslated region of TOR1A are of particular importance because they may influence gene expression, although related studies are limited. The objectives of the present study focused on variants in the TOR1A 3' untranslated region. METHODS: The last exon of TOR1A was sequenced in 229 cases with isolated dystonia and in 210 controls. In addition, 471 controls were tested to determine the frequency of the variants in the 3' untranslated region...
April 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#3
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432366/exploring-quantum-griffiths-phase-in-ni1-x-v-x-nanoalloys
#4
Priyadarsini Swain, Suneel K Srivastava, Sanjeev K Srivastava
Metallic Ni1-x V x alloys exhibit a ferromagnetic to paramagnetic disordered quantum phase transition in bulk. Such a phase transition is accompanied by a quantum Griffiths phase (QGP), featuring fractional power-law temperature dependences of physical variables, like magnetic susceptibility and specific heat, at low temperatures. As nanoparticles (NP's) usually exhibit properties significantly different from their bulk counterparts, it is intriguing to explore the occurrence of quantum Griffiths phase in Ni1-x V x nanoalloys...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28432364/rrm-domain-of-als-ftd-causing-fus-characteristic-of-irreversible-unfolding-spontaneously-self-assembles-into-amyloid-fibrils
#5
Yimei Lu, Liangzhong Lim, Jianxing Song
526-residue FUS functions to self-assemble into reversible droplets/hydrogels, which could be further solidified into pathological fibrils. FUS is intrinsically prone to aggregation, composed of N-terminal low-sequence complexity (LC); RNA-recognition motif (RRM) and C-terminal LC domains. Intriguingly, previous in vivo studies revealed that its RRM is required for manifesting FUS cytotoxicity but the underlying mechanism remains unknown. Here, we characterized solution conformations of FUS and its five differentially dissected fragments, followed by detailed investigations on thermal unfolding, NMR dynamics and self-assembly of RRM...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28432297/high-probability-of-comorbidities-in-bronchial-asthma-in-germany
#6
S Heck, S Al-Shobash, D Rapp, D D Le, A Omlor, A Bekhit, M Flaig, B Al-Kadah, W Herian, R Bals, S Wagenpfeil, Q T Dinh
Clinical experience has shown that allergic and non-allergic respiratory, metabolic, mental, and cardiovascular disorders sometimes coexist with bronchial asthma. However, no study has been carried out that calculates the chance of manifestation of these disorders with bronchial asthma in Saarland and Rhineland-Palatinate, Germany. Using ICD10 diagnoses from health care institutions, the present study systematically analyzed the co-prevalence and odds ratios of comorbidities in the asthma population in Germany...
April 21, 2017: NPJ Primary Care Respiratory Medicine
https://www.readbyqxmd.com/read/28431575/heterogeneous-ribonuclear-protein-a3-hnrnp-a3-is-present-in-dipeptide-repeat-protein-containing-inclusions-in-frontotemporal-lobar-degeneration-and-motor-neurone-disease-associated-with-expansions-in-c9orf72-gene
#7
Yvonne S Davidson, Louis Flood, Andrew C Robinson, Yoshihiro Nihei, Kohji Mori, Sara Rollinson, Anna Richardson, Bridget C Benson, Matthew Jones, Julie S Snowden, Stuart Pickering-Brown, Christian Haass, Tammaryn Lashley, David M A Mann
Frontotemporal Lobar Degeneration (FTLD) encompasses certain related neurodegenerative disorders which alter behaviour, personality and language. Heterogeneous ribonuclear proteins (hnRNPs) maintain RNA metabolism and changes in their function may underpin the pathogenesis of FTLD. Immunostaining for hnRNP A1, A2/B1 and A3 was performed on sections of temporal cortex with hippocampus from 61 patients with FTLD, stratified by pathological hallmarks into FTLD-tau and FTLD-TDP type A, B and C subtypes, and by genetics into patients with C9orf72 expansions, MAPT or GRN mutations, or those without known mutation...
April 21, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28431177/altered-functional-connectivity-in-idiopathic-rapid-eye-movement-sleep-behavior-disorder-a-resting-state-eeg-study
#8
Jun-Sang Sunwoo, Sanghun Lee, Jung-Hoon Kim, Jung-Ah Lim, Tae-Joon Kim, Jung-Ick Byun, Min Hee Jeong, Kwang Su Cha, Jeong Woo Choi, Kyung Hwan Kim, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Kon Chu, Manho Kim, Sang Kun Lee, Ki-Young Jung
Study Objectives: Idiopathic rapid eye movement sleep behavior disorder (iRBD) is considered as a prodromal stage of synucleinopathy. Although loss of functional connectivity is implicated in neurodegenerative diseases, network characteristics of electroencephalography (EEG) in iRBD are unknown. Therefore, we evaluated resting-state EEG functional connectivity to identify the brain network changes in patients with iRBD. Methods: We prospectively enrolled 20 patients with polysomnography-confirmed iRBD and 16 control subjects...
April 18, 2017: Sleep
https://www.readbyqxmd.com/read/28430886/intrinsic-protein-disorder-reduces-small-scale-gene-duplicability
#9
Sanghita Banerjee, Felix Feyertag, David Alvarez-Ponce
Whereas the rate of gene duplication is relatively high, only certain duplications survive the filter of natural selection and can contribute to genome evolution. However, the reasons why certain genes can be retained after duplication whereas others cannot remain largely unknown. Many proteins contain intrinsically disordered regions (IDRs), whose structures fluctuate between alternative conformational states. Due to their high flexibility, IDRs often enable protein-protein interactions and are the target of post-translational modifications...
April 19, 2017: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
https://www.readbyqxmd.com/read/28430820/cardiovascular-safety-of-tiotropium-respimat-vs-handihaler-in-the-routine-clinical-practice-a-population-based-cohort-study
#10
Francesco Trotta, Stefania Spila-Alegiani, Roberto Da Cas, Maja Rajevic, Valentino Conti, Mauro Venegoni, Mariangela Rossi, Giuseppe Traversa
The cardiovascular safety of tiotropium Respimat formulation in the routine clinical practice is still an open issue. Our aim was to compare the risk of acute myocardial infarction and heart rhythm disorders in incident users of either tiotropium Respimat or HandiHaler. The study population comprises patients aged ≥45 years, resident in two Italian regions with a first prescription of tiotropium (HandiHaler or Respimat) between 01/07/2011-30/11/2013. The cohort was identified through the database of prescriptions reimbursed by the Italian National Health Service...
2017: PloS One
https://www.readbyqxmd.com/read/28430505/excitation-gap-scaling-near-quantum-critical-three-dimensional-antiferromagnets
#11
M Lohöfer, S Wessel
By means of large-scale quantum Monte Carlo simulations, we examine the quantum critical scaling of the magnetic excitation gap (the triplon gap) in a three-dimensional dimerized quantum antiferromagnet, the bicubic lattice, and identify characteristic multiplicative logarithmic scaling corrections atop the leading mean-field behavior. These findings are in accord with field-theoretical predictions that are based on an effective description of the quantum critical system in terms of an asymptotically free field theory, which exhibits a logarithmic decay of the renormalized interaction strength upon approaching the quantum critical point...
April 7, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28430123/functional-analysis-of-the-rs774872314-rs116171003-rs200231898-and-rs201107751-polymorphisms-in-the-human-ror%C3%AE-t-gene-promoter-region
#12
Marcin Ratajewski, Marcin Słomka, Kaja Karaś, Marta Sobalska-Kwapis, Małgorzata Korycka-Machała, Anna Sałkowska, Jarosław Dziadek, Dominik Strapagiel, Jarosław Dastych
RAR-related orphan receptor gamma RORγT, a tissue-specific isoform of the RORC gene, plays a critical role in the development of naive CD4+ cells into fully differentiated Th17 lymphocytes. Th17 lymphocytes are part of the host defense against numerous pathogens and are also involved in the pathogenesis of inflammatory diseases, including autoimmune disorders. In this study, we functionally examined four naturally occurring polymorphisms located within one of the previously identified GC-boxes in the promoter region of the gene...
April 21, 2017: Genes
https://www.readbyqxmd.com/read/28429448/white-matter-microstructure-variations-contribute-to-neurological-soft-signs-in-healthy-adults
#13
Dusan Hirjak, Philipp A Thomann, Robert C Wolf, Katharina M Kubera, Caspar Goch, Jan Hering, Klaus H Maier-Hein
OBJECTIVE: Neurological soft signs (NSS) are core features of psychiatric disorders with significant neurodevelopmental origin. However, it is unclear whether NSS correlates are associated with neuropathological processes underlying the disease or if they are confounded by medication. Given that NSS are also present in healthy persons (HP), investigating HP could reveal NSS correlates, which are not biased by disease-specific processes or drug treatment. Therefore, we used a combination of diffusion MRI analysis tools to provide a framework of specific white matter (WM) microstructure variations underlying NSS in HP...
April 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28428748/resting-state-neuroimaging-and-neuropsychological-findings-in-opioid-use-disorder-during-abstinence-a-review
#14
REVIEW
Hada Fong-Ha Ieong, Zhen Yuan
Dependence to opiates, including illicit heroin and prescription pain killers, and treatment of the opioid use disorder (OUD) have been longstanding problems over the world. Despite intense efforts to scientific investigation and public health care, treatment outcomes have not significantly improved for the past 50 years. One reason behind the continuing use of heroin worldwide despite such efforts is its highly addictive nature. Brain imaging studies over the past two decades have made significant contribution to the understanding of the addictive properties as to be due in part to biological processes, specifically those in the brain structure and function...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28428564/nanometre-scale-3d-defects-in-cr2alc-thin-films
#15
Y T Chen, D Music, L Shang, J Mayer, J M Schneider
MAX-phase Cr2AlC containing thin films were synthesized by magnetron sputtering in an industrial system. Nanometre-scale 3D defects are observed near the boundary between regions of Cr2AlC and of the disordered solid solution (CrAl)xCy. Shrinkage of the Cr-Cr interplanar distance and elongation of the Cr-Al distance in the vicinity of the defects are detected using transmission electron microscopy. The here observed deformation surrounding the defects was described using density functional theory by comparing the DOS of bulk Cr2AlC with the DOS of a strained and unstrained Cr2AlC(0001) surface...
April 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28428146/the-correlation-between-mood-states-and-functional-connectivity-within-the-default-mode-network-can-differentiate-internet-gaming-disorder-from-healthy-controls
#16
Guangheng Dong, Hui Li, Lingxiao Wang, Marc N Potenza
The default-mode network (DMN) has been suggested to support a baseline state of brain activity. However, whether connectivity within the DMN is associated with mood states remains incompletely understood. The current study examined the correlation between mood state and the functional connectivity (FC) among DMN regions, and examined if the FC can differentiate Internet gaming disorder (IGD) from healthy controls (HC). Resting state data were collected within 108 college students (IGD,41; HC,67). Negative correlations were observed between measures of: (1) Depression and FCs among ventral DMN regions; (2) Anger and FCs among dorsal DMN regions; and, (3) Anger and Depression and FCs of both the ventral and dorsal DMN...
April 18, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28427869/ischemic-preconditioning-with-ketogenic-diet-improves-brain-ischemic-tolerance-through-increased-extracellular-adenosine-levels-and-hypoxia-inducible-factors
#17
Qi Yang, Min Guo, Xun Wang, Yanxin Zhao, Hongyan Ding, Mei Cui, Qiang Dong
Achieving a prolonged neuroprotective state reduces brain damage and neurological dysfunction characteristic of brain ischemia. The ketogenic diet (KD) has disease-modifying effects in several neurodegenerative disorders. In this study, we fed mice with KD for three weeks and performed reversible middle cerebral artery occlusion (MCAO) in the animals. KD-fed mice had significantly reduced infarct volume, increased regional cerebral blood flow (rCBF) and extracellular adenosine levels in both ischemic and reperfusion stages...
April 18, 2017: Brain Research
https://www.readbyqxmd.com/read/28427839/the-prevalence-of-metabolic-syndrome-among-older-adults-in-ecuador-results-of-the-sabe-survey
#18
Carlos H Orces, Enrique Lopez Gavilanez
AIMS: To describe the prevalence of metabolic syndrome among older adults in Ecuador. A secondary objective was to examine the relationship between metabolic syndrome and its components and insulin resistance among non-diabetic participants. MATERIALS AND METHODS: The National Survey of Health, Wellbeing, and Aging survey was used to examine the prevalence of metabolic syndrome according to demographic, behavioral, and health characteristics of the participants...
April 11, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28427688/pruritus-may-be-a-common-symptom-related-to-neuromyelitis-optica-spectrum-disorders
#19
Zhiyong He, Ming Ren, Xiaofeng Wang, Qifeng Guo, Xiaokun Qi
BACKGROUND: To evaluate pruritus in patients with neuromyelitis optica spectrum disorders (NMOSD) and to characterize the relationship between pruritus and lesions of NMOSD. METHODS: 61 patients with NMOSD were included in the study and their medical records were reviewed for pruritus, neurological symptoms and magnetic resonance imaging (MRI) images. We focused on the patients' history of pruritus, especially the severity, duration, region, and the relationship of pruritus with other symptoms of NMOSD...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28427565/analyzing-the-effect-of-v66m-mutation-in-bdnf-in-causing-mood-disorders-a-computational-approach
#20
P Sneha, D Thirumal Kumar, Sugandhi Saini, Kreeti Kajal, R Magesh, R Siva, C George Priya Doss
Mental disorders or mood disorders are prevalent globally irrespective of region, race, and ethnic groups. Of the types of mood disorders, major depressive disorder (MDD) and bipolar disorder (BPD) are the most prevalent forms of psychiatric condition. A number of preclinical studies emphasize the essential role of brain-derived neurotrophic factor (BDNF) in the pathophysiology of mood disorders. Additionally, BDNF is the most common growth factor in the central nervous system along with their essential role during the neural development and the synaptic elasticity...
2017: Advances in Protein Chemistry and Structural Biology
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