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https://www.readbyqxmd.com/read/28919799/maple-syrup-urine-disease-mechanisms-and-management
#1
REVIEW
Patrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, Kristen M Farnham, Herjot K Atwal, Sarah Macklin, Eric W Klee, Paldeep S Atwal
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28910236/quantitative-responses-of-adult-zebrafish-to-changes-in-ambient-illumination
#2
Enhua Shao, Qing Bai, Yangzhong Zhou, Edward A Burton
The use of zebrafish models to study central nervous system aging and late-onset neurological diseases will be facilitated by assays allowing rapid evaluation of neurological phenotypes in adult zebrafish. We analyzed groups of 12 adult zebrafish swimming simultaneously in single-animal arenas, and quantified their responses to changes in ambient illumination. Under these conditions, stereotypical locomotor patterns were observed and readily quantified using open source software. Continuous, low-velocity movements were observed during 10-min periods of darkness, whereas intermittent high-velocity movements occurred in bright light...
September 14, 2017: Zebrafish
https://www.readbyqxmd.com/read/28894610/maturation-refinement-and-serotonergic-modulation-of-cerebellar-cortical-circuits-in-normal-development-and-in-murine-models-of-autism
#3
REVIEW
Eriola Hoxha, Pellegrino Lippiello, Bibiana Scelfo, Filippo Tempia, Mirella Ghirardi, Maria Concetta Miniaci
The formation of the complex cerebellar cortical circuits follows different phases, with initial synaptogenesis and subsequent processes of refinement guided by a variety of mechanisms. The regularity of the cellular and synaptic organization of the cerebellar cortex allowed detailed studies of the structural plasticity mechanisms underlying the formation of new synapses and retraction of redundant ones. For the attainment of the monoinnervation of the Purkinje cell by a single climbing fiber, several signals are involved, including electrical activity, contact signals, homosynaptic and heterosynaptic interaction, calcium transients, postsynaptic receptors, and transduction pathways...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28890690/a-cohesive-framework-for-motor-stereotypy-in-typical-and-atypical-development-the-role-of-sensorimotor-integration
#4
Robin L Shafer, Karl M Newell, Mark H Lewis, James W Bodfish
Stereotyped motor behavior manifests as rhythmic, repetitive movements. It is common in several neurologic and psychiatric disorders where it is considered maladaptive. However, it also occurs early in typical development where it serves an adaptive function in the development of complex, controlled motor behavior. Currently, no framework accounts for both adaptive and maladaptive forms of motor stereotypy. We propose a conceptual model that implicates sensorimotor mechanisms in the phenomenology of adaptive and maladaptive stereotypy...
2017: Frontiers in Integrative Neuroscience
https://www.readbyqxmd.com/read/28889979/visual-threat-assessment-and-reticulospinal-encoding-of-calibrated-responses-in-larval-zebrafish
#5
Kiran Bhattacharyya, David L McLean, Malcolm A MacIver
All visual animals must decide whether approaching objects are a threat. Our current understanding of this process has identified a proximity-based mechanism where an evasive maneuver is triggered when a looming stimulus passes a subtended visual angle threshold. However, some escape strategies are more costly than others, and so it would be beneficial to additionally encode the level of threat conveyed by the predator's approach rate to select the most appropriate response. Here, using naturalistic rates of looming visual stimuli while simultaneously monitoring escape behavior and the recruitment of multiple reticulospinal neurons, we find that larval zebrafish do indeed perform a calibrated assessment of threat...
September 6, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28884336/the-effects-of-constraining-vision-and-eye-movements-on-whole-body-coordination-during-standing-turns
#6
Rebecca K Robins, Mark A Hollands
Turning the body towards a new direction is normally achieved via a top-down synergy whereby gaze (eye direction in space) leads the upper body segments, which in turn lead the feet. These anticipatory eye movements are observable even in darkness and constraining the initial eye movements modifies the stereotyped top-down reorientation sequence. Our aim was to elucidate the relative contributions of vision and eye movements to whole-body coordination during large standing turns by observing the effects of separately removing visual information or suppressing eye movements throughout the turn...
September 7, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28878054/sneeze-to-leave-african-wild-dogs-lycaon-pictus-use-variable-quorum-thresholds-facilitated-by-sneezes-in-collective-decisions
#7
Reena H Walker, Andrew J King, J Weldon McNutt, Neil R Jordan
In despotically driven animal societies, one or a few individuals tend to have a disproportionate influence on group decision-making and actions. However, global communication allows each group member to assess the relative strength of preferences for different options among their group-mates. Here, we investigate collective decisions by free-ranging African wild dog packs in Botswana. African wild dogs exhibit dominant-directed group living and take part in stereotyped social rallies: high energy greeting ceremonies that occur before collective movements...
September 13, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28871070/pearls-oy-sters-frontal-lobe-epilepsy-presenting-as-complex-stereotyped-movements
#8
Jennifer Vermilion, Jonathan W Mink
No abstract text is available yet for this article.
September 5, 2017: Neurology
https://www.readbyqxmd.com/read/28864563/induced-parental-care-in-a-poison-frog-a-tadpole-cross-fostering-experiment
#9
Andrius Pašukonis, Kristina Barbara Beck, Marie-Therese Fischer, Steffen Weinlein, Susanne Stückler, Eva Ringler
Understanding the external stimuli and natural contexts that elicit complex behaviors, such as parental care, is key in linking behavioral mechanisms to their real-life function. Poison frogs provide obligate parental care by shuttling their tadpoles from terrestrial clutches to aquatic nurseries, but little is known about the proximate mechanisms that control these behaviors. In this study, we used Allobates femoralis, a poison frog with predominantly male parental care, to investigate whether tadpole transport can be induced in both sexes by transferring unrelated tadpoles to the backs of adults in the field...
September 1, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28856689/real-time-large-scale-in-vivo-observations-reveal-intrinsic-synchrony-plasticity-and-growth-cone-dynamics-of-midline-crossing-axons-during-neuronal-wiring-of-the-zebrafish-spinal-cord
#10
Søren S L Andersen
How axons are wired in the vertebrate spinal cord has been studied mostly using fixed samples or looking at individually growing axons. Using light-sheet microscopy, early neural development is here followed in vivo in real time at high resolution along several hundred micrometers of the zebrafish spinal cord. The dynamics and time course of cellular development and axonal wiring of interneurons expressing GFP under control of the dmrt3 promotor are analyzed. Following neurulation, commissural axons are observed crossing the ventral floor plate midline perpendicularly at about 20 microns/h and in a manner dependent on the Robo3 but not the EphA4 receptors...
August 30, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28843014/how-does-parkinson-s-disease-begin-perspectives-on-neuroanatomical-pathways-prions-and-histology
#11
REVIEW
Per Borghammer
Parkinson's disease (PD) is a multisystem disorder with involvement of the peripheral nervous system. Misfolding and aggregation of α-synuclein is central to the pathogenesis of PD, and it has been postulated that the disease may originate in olfactory and gastrointestinal nerve terminals. The prion-like behavior of α-synuclein has been convincingly demonstrated in vitro and in animal models of PD. Lewy-type pathology have been detected in peripheral organs many years prior to PD diagnosis, and 2 independent studies have now suggested that truncal vagotomy may be protective against the disorder...
August 26, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28837917/aging-effect-on-step-adjustments-and-stability-control-in-visually-perturbed-gait-initiation
#12
Ruopeng Sun, Chuyi Cui, John B Shea
Gait adaptability is essential for fall avoidance during locomotion. It requires the ability to rapidly inhibit original motor planning, select and execute alternative motor commands, while also maintaining the stability of locomotion. This study investigated the aging effect on gait adaptability and dynamic stability control during a visually perturbed gait initiation task. A novel approach was used such that the anticipatory postural adjustment (APA) during gait initiation were used to trigger the unpredictable relocation of a foot-size stepping target...
August 18, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28813800/the-effects-of-control-signal-noise-on-simultaneous-submovements
#13
Kathleen R Wilson, Kevin B Englehart, Jon W Sensinger
Understanding the stereotypical characteristics of human movement can better inform rehabilitation practices by providing a template of healthy and expected human motor control. Multiplicative noise is inherent in goal-directed movement, such as reaching to grasp an object. Multiplicative noise plays an important role in computational motor control models to help support phenomena such as stereotypical kinematic profiles in time-constrained and unconstrained tasks. Most tasks are not carried out along an isolated degree-of-freedom (DOF), and modelling the contribution of noise can be difficult...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813454/applying-machine-learning-to-identify-autistic-adults-using-imitation-an-exploratory-study
#14
Baihua Li, Arjun Sharma, James Meng, Senthil Purushwalkam, Emma Gowen
Autism spectrum condition (ASC) is primarily diagnosed by behavioural symptoms including social, sensory and motor aspects. Although stereotyped, repetitive motor movements are considered during diagnosis, quantitative measures that identify kinematic characteristics in the movement patterns of autistic individuals are poorly studied, preventing advances in understanding the aetiology of motor impairment, or whether a wider range of motor characteristics could be used for diagnosis. The aim of this study was to investigate whether data-driven machine learning based methods could be used to address some fundamental problems with regard to identifying discriminative test conditions and kinematic parameters to classify between ASC and neurotypical controls...
2017: PloS One
https://www.readbyqxmd.com/read/28796977/a-novel-de-novo-20q13-11q13-12-microdeletion-in-a-boy-with-neurodevelopmental-disorders-case-report
#15
Joanna Bernaciak, Barbara Wiśniowiecka-Kowalnik, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Beata Nowakowska
Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28794905/further-clinical-delineation-of-the-mef2c-haploinsufficiency-syndrome-report-on-new-cases-and-literature-review-of-severe-neurodevelopmental-disorders-presenting-with-seizures-absent-speech-and-involuntary-movements
#16
REVIEW
Irena Vrečar, Josie Innes, Elizabeth A Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton-Smith, Sofia Douzgou
Mutations in the MEF2C ( myocyte enhancer factor 2 ) gene have been established as a cause for an intellectual disability syndrome presenting with seizures, absence of speech, stereotypic movements, hypotonia, and limited ambulation. Phenotypic overlap with Rett's and Angelman's syndromes has been noted. Following the first reports of 5q14.3q15 microdeletions encompassing the MEF2C gene, further cases with point mutations and partial gene deletions of the MEF2C gene have been described. We present the clinical phenotype of our cohort of six patients with MEF2C mutations and compare our findings with previously reported patients as well as with a growing number of genetic conditions presenting with a severe neurodevelopmental, Rett-like, phenotype...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28768750/echo-acoustic-scanning-with-noseleaf-and-ears-in-phyllostomid-bats
#17
Kathrin Kugler, Lutz Wiegrebe
The mammalian visual system is highly directional and mammals typically employ rapid eye movements to scan their environment. Both sound emission and hearing in echolocating bats are directional but not much is known about how bats use ear movements and possibly movements of the sound-emitting structures to scan space. Here, we investigated in a tightly controlled behavioural experiment how Phyllostomusdiscolor bats employ their echolocation system while being moved through differently structured environments: we monitored and reconstructed both a close-up of the facial structures in 3D, including the motile noseleaf and outer ears, and the sonar-beam of the bat while it was moved along reflectors...
August 1, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28743752/thalamocortical-synchronization-during-induction-and-emergence-from-propofol-induced-unconsciousness
#18
Francisco J Flores, Katharine E Hartnack, Amanda B Fath, Seong-Eun Kim, Matthew A Wilson, Emery N Brown, Patrick L Purdon
General anesthesia (GA) is a reversible drug-induced state of altered arousal required for more than 60,000 surgical procedures each day in the United States alone. Sedation and unconsciousness under GA are associated with stereotyped electrophysiological oscillations that are thought to reflect profound disruptions of activity in neuronal circuits that mediate awareness and cognition. Computational models make specific predictions about the role of the cortex and thalamus in these oscillations. In this paper, we provide in vivo evidence in rats that alpha oscillations (10-15 Hz) induced by the commonly used anesthetic drug propofol are synchronized between the thalamus and the medial prefrontal cortex...
August 8, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28725418/development-of-an-automated-method-of-detecting-stereotyped-feeding-events-in-multisensor-data-from-tagged-rorqual-whales
#19
Ann N Allen, Jeremy A Goldbogen, Ari S Friedlaender, John Calambokidis
The introduction of animal-borne, multisensor tags has opened up many opportunities for ecological research, making previously inaccessible species and behaviors observable. The advancement of tag technology and the increasingly widespread use of bio-logging tags are leading to large volumes of sometimes extremely detailed data. With the increasing quantity and duration of tag deployments, a set of tools needs to be developed to aid in facilitating and standardizing the analysis of movement sensor data. Here, we developed an observation-based decision tree method to detect feeding events in data from multisensor movement tags attached to fin whales (Balaenoptera physalus)...
October 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/28692658/temporal-specificity-of-the-initial-adaptive-response-in-motor-adaptation
#20
Wilsaan M Joiner, Gary C Sing, Maurice A Smith
Repeated exposure to a novel physical environment eventually leads to a mature adaptive response whereby feedforward changes in motor output mirror both the amplitude and temporal structure of the environmental perturbations. However, adaptive responses at the earliest stages of learning have been found to be not only smaller, but systematically less specific in their temporal structure compared to later stages of learning. This observation has spawned a lively debate as to whether the temporal structure of the initial adaptive response is, in fact, stereotyped and non-specific...
July 2017: PLoS Computational Biology
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