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https://www.readbyqxmd.com/read/28638987/leukodystrophies-a-proposed-classification-system-based-on-pathological-changes-and-pathogenetic-mechanisms
#1
REVIEW
Marjo S van der Knaap, Marianna Bugiani
Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at any age, from prenatal life to senescence. Many leukodystrophies are degenerative in nature, but some only impair white matter function. The clinical course is mostly progressive, but may also be static or even improving with time. Progressive leukodystrophies are often fatal, and no curative treatment is known. The last decade has witnessed a tremendous increase in the number of defined leukodystrophies also owing to a diagnostic approach combining magnetic resonance imaging pattern recognition and next generation sequencing...
June 21, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28638059/cis-regulatory-evolution-in-prokaryotes-revealed-by-interspecific-archaeal-hybrids
#2
Carlo G Artieri, Adit Naor, Israela Turgeman-Grott, Yiqi Zhou, Ryan York, Uri Gophna, Hunter B Fraser
The study of allele-specific expression (ASE) in interspecific hybrids has played a central role in our understanding of a wide range of phenomena, including genomic imprinting, X-chromosome inactivation, and cis-regulatory evolution. However across the hundreds of studies of hybrid ASE, all have been restricted to sexually reproducing eukaryotes, leaving a major gap in our understanding of the genomic patterns of cis-regulatory evolution in prokaryotes. Here we introduce a method to generate stable hybrids between two species of halophilic archaea, and measure genome-wide ASE in these hybrids with RNA-seq...
June 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28634866/differential-chromosomal-organization-between-saguinus-midas-and-saguinus-bicolor-with-accumulation-of-differences-the-repetitive-sequence-dna
#3
Dayane Martins Barbosa Serfaty, Natália Dayane Moura Carvalho, Maria Claudia Gross, Marcelo Gordo, Carlos Henrique Schneider
Saguinus is the largest and most complex genus of the subfamily Callitrichinae, with 23 species distributed from the south of Central America to the north of South America with Saguinus midas having the largest geographical distribution while Saguinus bicolor has a very restricted one, affected by the population expansion in the state of Amazonas. Considering the phylogenetic proximity of the two species along with evidence on the existence of hybrids between them, as well as cytogenetic studies on Saguinus describing a conserved karyotypic macrostructure, we carried out a physical mapping of DNA repeated sequences in the mitotic chromosome of both species, since these sequences are less susceptible to evolutionary pressure and possibly perform an important function in speciation...
June 20, 2017: Genetica
https://www.readbyqxmd.com/read/28634340/dispersal-ability-determines-the-scaling-properties-of-species-abundance-distributions-a-case-study-using-arthropods-from-the-azores
#4
Luís Borda-de-Água, Robert J Whittaker, Pedro Cardoso, François Rigal, Ana M C Santos, Isabel R Amorim, Aristeidis Parmakelis, Kostas A Triantis, Henrique M Pereira, Paulo A V Borges
Species abundance distributions (SAD) are central to the description of diversity and have played a major role in the development of theories of biodiversity and biogeography. However, most work on species abundance distributions has focused on one single spatial scale. Here we used data on arthropods to test predictions obtained with computer simulations on whether dispersal ability influences the rate of change of SADs as a function of sample size. To characterize the change of the shape of the SADs we use the moments of the distributions: the skewness and the raw moments...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28634306/representations-of-time-varying-cochlear-implant-stimulation-in-auditory-cortex-of-awake-marmosets-callithrix-jacchus
#5
Luke A Johnson, Charles C Della Santina, Xiaoqin Wang
Electrical stimulation of the auditory periphery organ by cochlear implant (CI) generates highly synchronized inputs to the auditory system. It has long been thought such inputs would lead to highly synchronized neural firing along the ascending auditory pathway. However, neurophysiological studies with hearing animals have shown that the central auditory system progressively converts temporal representations of time-varying sounds to firing rate-based representations. It is not clear whether this coding principle also applies to highly synchronized CI inputs...
June 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28633714/three-generation-family-with-congenital-central-hypoventilation-syndromeand-novel-phox2b-gene-non-polyalanine-repeat-mutation
#6
Ajay S Kasi, Taryn J Jurgensen, Stephanie Yen, Sheila S Kun, Thomas G Keens, Iris A Perez
PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to beassociated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individualspossessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. This mutation was inherited in an autosomal dominant pattern with variablepenetrance. The affected family members with CCHS have a milder phenotype than is typically expected with a NPARM...
June 16, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28631166/morphology-and-the-gradient-of-a-symmetric-potential-predict-gait-transitions-of-dogs
#7
Simon Wilshin, G Clark Haynes, Jack Porteous, Daniel Koditschek, Shai Revzen, Andrew J Spence
Gaits and gait transitions play a central role in the movement of animals. Symmetry is thought to govern the structure of the nervous system, and constrain the limb motions of quadrupeds. We quantify the symmetry of dog gaits with respect to combinations of bilateral, fore-aft, and spatio-temporal symmetry groups. We tested the ability of symmetries to model motion capture data of dogs walking, trotting and transitioning between those gaits. Fully symmetric models performed comparably to asymmetric with only a [Formula: see text] increase in the residual sum of squares and only one-quarter of the parameters...
June 19, 2017: Biological Cybernetics
https://www.readbyqxmd.com/read/28623373/metabolic-and-evolutionary-patterns-in-the-extremely-acidophilic-archaeon-ferroplasma-acidiphilum-y-t
#8
Olga V Golyshina, Hai Tran, Oleg N Reva, Sofia Lemak, Alexander F Yakunin, Alexander Goesmann, Taras Y Nechitaylo, Violetta LaCono, Francesco Smedile, Alexei Slesarev, David Rojo, Coral Barbas, Manuel Ferrer, Michail M Yakimov, Peter N Golyshin
Ferroplasmaceae represent ubiquitous iron-oxidising extreme acidophiles with a number of unique physiological traits. In a genome-based study of Ferroplasma acidiphilum Y(T), the only species of the genus Ferroplasma with a validly published name, we assessed its central metabolism and genome stability during a long-term cultivation experiment. Consistently with physiology, the genome analysis points to F. acidiphilum Y(T) having an obligate peptidolytic oligotrophic lifestyle alongside with anaplerotic carbon assimilation...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28623037/muscle-recruitment-and-coordination-with-an-ankle-exoskeleton
#9
Katherine M Steele, Rachel W Jackson, Benjamin R Shuman, Steven H Collins
Exoskeletons have the potential to assist and augment human performance. Understanding how users adapt their movement and neuromuscular control in response to external assistance is important to inform the design of these devices. The aim of this research was to evaluate changes in muscle recruitment and coordination for ten unimpaired individuals walking with an ankle exoskeleton. We evaluated changes in the activity of individual muscles, cocontraction levels, and synergistic patterns of muscle coordination with increasing exoskeleton work and torque...
May 18, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/28622748/dna-barcoding-of-five-species-of-groupers-pisces-serranidae-off-visakhapatnam-central-eastern-coast-of-india
#10
Vaddiparti Iswarya Deepti, Sujatha Kandula, G D Khedkar
Grouper species of Epinephelus - E. epistictus, E. heniochus, E. latifasciatus, E. magniscuttis and E. radiatus exhibit overlapping colour pattern that often leads to misidentification in the field. Even the colour pattern of juveniles of these species in different size groups varies considerably with that of adults. DNA barcoding of these five species was carried out to reinforce our knowledge on existing taxonomic relationships derived based on morphological and biochemical genetic studies that were previously done from Indian waters...
June 16, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28621996/transient-dissipation-and-structural-costs-of-physical-information-transduction
#11
Alexander B Boyd, Dibyendu Mandal, Paul M Riechers, James P Crutchfield
A central result that arose in applying information theory to the stochastic thermodynamics of nonlinear dynamical systems is the information-processing second law (IPSL): the physical entropy of the Universe can decrease if compensated by the Shannon-Kolmogorov-Sinai entropy change of appropriate information-carrying degrees of freedom. In particular, the asymptotic-rate IPSL precisely delineates the thermodynamic functioning of autonomous Maxwellian demons and information engines. How do these systems begin to function as engines, Landauer erasers, and error correctors? We identify a minimal, and thus inescapable, transient dissipation of physical information processing, which is not captured by asymptotic rates, but is critical to adaptive thermodynamic processes such as those found in biological systems...
June 2, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28621751/geographic-variations-in-cardiometabolic-risk-factors-in-luxembourg
#12
Ala'a Alkerwi, Illiasse El Bahi, Saverio Stranges, Jean Beissel, Charles Delagardelle, Stephanie Noppe, Ngianga-Bakwin Kandala
Cardiovascular disease (CVD) and associated behavioural and metabolic risk factors constitute a major public health concern at a global level. Many reports worldwide have documented different risk profiles for populations with demographic variations. The objective of this study was to examine geographic variations in the top leading cardio metabolic and behavioural risk factors in Luxembourg, in order to provide an overall picture of CVD burden across the country. The analysis conducted was based on data from the nationwide ORISCAV-LUX survey, including 1432 subjects, aged 18-69 years...
June 16, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28616754/sexually-dimorphic-distribution-of-prokr2-neurons-revealed-by-the-prokr2-cre-mouse-model
#13
Zaid Mohsen, Hosung Sim, David Garcia-Galiano, Xingfa Han, Nicole Bellefontaine, Thomas L Saunders, Carol F Elias
Prokineticin receptor 2 (PROKR2) is predominantly expressed in the mammalian central nervous system. Loss-of-function mutations of PROKR2 in humans are associated with Kallmann syndrome due to the disruption of gonadotropin releasing hormone neuronal migration and deficient olfactory bulb morphogenesis. PROKR2 has been also implicated in the neuroendocrine control of GnRH neurons post-migration and other physiological systems. However, the brain circuitry and mechanisms associated with these actions have been difficult to investigate mainly due to the widespread distribution of Prokr2-expressing cells, and the lack of animal models and molecular tools...
June 14, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28599776/educational-differentials-in-cohabitors-marriage-intentions-at-different-childbearing-stages-in-seven-european-countries
#14
Jorik Vergauwen, Karel Neels, Jonas Wood
Several studies have looked into the socio-economic gradients of cohabitation and non-marital fertility. According to the theory of the Second Demographic Transition, highly educated individuals can be considered as forerunners in the Western European spread of non-marital family forms after the 1970s. In Central and Eastern Europe (CEE), however, research has provided evidence for a Pattern of Disadvantage where those with the lowest education have been the most likely to adopt such family forms. Hitherto, few studies have considered the educational gradient of the intentions underlying these behaviors...
July 2017: Social Science Research
https://www.readbyqxmd.com/read/28597341/in-silico-prediction-and-validation-of-gfap-as-an-mir-3099-target-in-mouse-brain
#15
Shahidee Zainal Abidin, Jia-Wen Leong, Marzieh Mahmoudi, Norshariza Nordin, Syahril Abdullah, Pike-See Cheah, King-Hwa Ling
MicroRNAs are small non-coding RNAs that play crucial roles in the regulation of gene expression and protein synthesis during brain development. MiR-3099 is highly expressed throughout embryogenesis, especially in the developing central nervous system. Moreover, miR-3099 is also expressed at a higher level in differentiating neurons in vitro, suggesting that it is a potential regulator during neuronal cell development. This study aimed to predict the target genes of miR-3099 via in-silico analysis using four independent prediction algorithms (miRDB, miRanda, TargetScan, and DIANA-micro-T-CDS) with emphasis on target genes related to brain development and function...
June 8, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28588217/a-haptotaxis-assay-for-neutrophils-using-optical-patterning-and-a-high-content-approach
#16
Joannie Roy, Javier Mazzaferri, János G Filep, Santiago Costantino
Neutrophil recruitment guided by chemotactic cues is a central event in host defense against infection and tissue injury. While the mechanisms underlying neutrophil chemotaxis have been extensively studied, these are just recently being addressed by using high-content approaches or surface-bound chemotactic gradients (haptotaxis) in vitro. Here, we report a haptotaxis assay, based on the classic under-agarose assay, which combines an optical patterning technique to generate surface-bound formyl peptide gradients as well as an automated imaging and analysis of a large number of migration trajectories...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28583078/the-conquering-of-north-america-dated-phylogenetic-and-biogeographic-inference-of-migratory-behavior-in-bee-hummingbirds
#17
Yuyini Licona-Vera, Juan Francisco Ornelas
BACKGROUND: Geographical and temporal patterns of diversification in bee hummingbirds (Mellisugini) were assessed with respect to the evolution of migration, critical for colonization of North America. We generated a dated multilocus phylogeny of the Mellisugini based on a dense sampling using Bayesian inference, maximum-likelihood and maximum parsimony methods, and reconstructed the ancestral states of distributional areas in a Bayesian framework and migratory behavior using maximum parsimony, maximum-likelihood and re-rooting methods...
June 5, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28582456/detailed-spatial-characterization-of-superficial-hip-muscle-activation-during-walking-a-multi-electrode-surface-emg-investigation-of-the-gluteal-region-in-healthy-older-adults
#18
Christoph Anders, Steffen Patenge, Klaus Sander, Frank Layher, Uta Biedermann, Raimund W Kinne
PURPOSE: A multi-electrode array was used to generate spatially resolved Surface electromyography (SEMG) data of the hip muscles in healthy older adults. The cohort was meant to serve as an age-matched, normal control population for future surgical and rehabilitative studies in patients undergoing total hip arthroplasty, in view of the large, continuously increasing number of hip joint replacements. METHODS: Bilateral hip muscle SEMG activity, including tensor fasciae latae (TFL), gluteus medius (Gmed), and gluteus maximus (Gmax), was measured during locomotion on a walkway at self-selected slow, normal, and fast walking speeds (age-matched cohort of 29 females and 25 males)...
2017: PloS One
https://www.readbyqxmd.com/read/28578931/artificial-synaptic-rewiring-demonstrates-that-distinct-neural-circuit-configurations-underlie-homologous-behaviors
#19
Akira Sakurai, Paul S Katz
Behavioral homology is often assumed to involve similarity in underlying neuronal mechanisms. Here, we provide a counterexample where homologous behaviors are produced by neurons with different synaptic connectivity. The nudibranch molluscs Melibe leonina and Dendronotus iris exhibit homologous swimming behaviors, consisting of alternating left and right body flexions. The swim central pattern generators (CPGs) in both species are composed of bilaterally symmetric interneurons, which are individually identified and reciprocally inhibit their contralateral counterparts, contributing to left-right burst alternation in the swim motor patterns...
June 19, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28575421/evidence-of-the-impact-of-the-truth-finishit-campaign
#20
Vallone Vallone, Cantrell Cantrell, Bennett Bennett, Smith Smith, Jessica Rath, Xiao Xiao, Greenberg Greenberg, Elizabeth C Hair
Introduction: Over the past decade, public education mass media campaigns have been shown to be successful in changing tobacco-related attitudes, intentions, and behaviors among youth and young adults. In 2014, the national truth® campaign re-launched a new phase of the campaign targeted at a broad audience of youth and young adults, aged 15-21, to help end the tobacco epidemic. Methods: The study sample for this analysis is drawn from the Truth Longitudinal Cohort (TLC), a probability-based, nationally representative cohort designed to evaluate the relationship between awareness of truth media messages and changes in targeted attitudes, beliefs, and behaviors over time...
June 2, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
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