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https://www.readbyqxmd.com/read/28241031/a-novel-early-onset-phenotype-in-a-zebrafish-model-of-merosin-deficient-congenital-muscular-dystrophy
#1
Sarah J Smith, Jeffrey C Wang, Vandana A Gupta, James J Dowling
Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality. It is caused by recessive mutations in the LAMA2 gene that encodes a subunit of the extracellular matrix protein laminin 211. At present, there are no treatments for this disabling disease. The zebrafish has emerged as a powerful model system for the identification of novel therapies. However, drug discovery in the zebrafish is largely dependent on the identification of phenotypes suitable for chemical screening...
2017: PloS One
https://www.readbyqxmd.com/read/28239517/cortical-interactions-during-the-resolution-of-information-processing-demands-in-autism-spectrum-disorders
#2
Kristina Denisova, Guihu Zhao, Zhishun Wang, Suzanne Goh, Yuankai Huo, Bradley S Peterson
INTRODUCTION: Our flexible and adaptive interactions with the environment are guided by our individual representation of the physical world, estimated through sensation and evaluation of available information against prior knowledge. When linking sensory evidence with higher-level expectations for action, the central nervous system (CNS) in typically developing (TD) individuals relies in part on distributed and interacting cortical regions to communicate neuronal signals flexibly across the brain...
February 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28239501/consensus-on-the-definition-of-advanced-parkinson-s-disease-a-neurologists-based-delphi-study-cepa-study
#3
Maria-Rosario Luquin, Jaime Kulisevsky, Pablo Martinez-Martin, Pablo Mir, Eduardo S Tolosa
To date, no consensus exists on the key factors for diagnosing advanced Parkinson disease (APD). To obtain consensus on the definition of APD, we performed a prospective, multicenter, Spanish nationwide, 3-round Delphi study (CEPA study). An ad hoc questionnaire was designed with 33 questions concerning the relevance of several clinical features for APD diagnosis. In the first-round, 240 neurologists of the Spanish Movement Disorders Group participated in the study. The results obtained were incorporated into the questionnaire and both, results and questionnaire, were sent out to and fulfilled by 26 experts in Movement Disorders...
2017: Parkinson's Disease
https://www.readbyqxmd.com/read/28239213/effect-of-proteolytic-modification-on-texture-and-mastication-of-heat-treated-egg-white-gels
#4
Junko Funaki, Michiko Minami, Sachie Abe, Reiko Ueda, Wakako Eto, Kenji Kugino, Mutsuko Kugino, Keiko Abe, Kiyoshi Toko, Tomiko Asakura
: Raw egg white undergoes sol-gel transition by heat treatment, which changes it to an elastic gel. Here, protease treatment to render a new texture to heated egg white gel was applied. Protease-treated gels exhibited ductile flow without obvious rupture points. Transmission electron microscopy analysis showed that in protease-treated gels, protein aggregates were distributed more homogeneously compared with that observed in the untreated control, probably because ovalbumin was digested into small peptides as revealed by SDS-PAGE...
February 2017: Journal of Food Processing and Preservation
https://www.readbyqxmd.com/read/28238669/ellagic-acid-exerts-protective-effect-in-intrastriatal-6-hydroxydopamine-rat-model-of-parkinson-s-disease-possible-involvement-of-er%C3%AE-nrf2-ho-1-signaling
#5
Tourandokht Baluchnejadmojarad, Nafiseh Rabiee, Sedigheh Zabihnejad, Mehrdad Roghani
Parkinson's disease (PD) is a prevalent movement disorder in the elderly with progressive loss of mesencephalic dopaminergic neurons and incapacitating motor and non-motor complications. Ellagic acid is a natural phenolic compound with potent antioxidant and anti-inflammatory properties. In this study, we investigated its possible neuroprotective effect in 6-hydroxydopamine (6-OHDA) rat model of PD. Intrastriatal 6-OHDA-lesioned rats were pretreated with ellagic acid at a dose of 50 mg/kg/day for 1 week. Results showed that ellagic acid attenuates apomorphine-induced rotational bias and lowers the latency to initiate and the total time in the narrow beam task and this beneficial effect was partially abrogated following intracerebroventricular microinjection of estrogen receptor β (ERβ) antagonist...
February 23, 2017: Brain Research
https://www.readbyqxmd.com/read/28238460/-irritable-bowel-syndrome-with-constipation-and-functional-constipation-in-adults-treatment-part-2-of-2
#6
F Mearin, C Ciriza, M Mínguez, E Rey, J J Mascort, E Peña, P Cañones, J Júdez
In this Clinical practice guide we examine the diagnostic and therapeutic management of adult patients with constipation and abdominal discomfort, at the confluence of the spectrum of irritable bowel syndrome and functional constipation. Both fall within the framework of functional intestinal disorders and have major personal, health and social impact, altering the quality of life of the patients affected. The former is a subtype of irritable bowel syndrome in which constipation and altered bowel habit predominate, often along with recurring abdominal pain, bloating and abdominal distension...
February 23, 2017: Atencion Primaria
https://www.readbyqxmd.com/read/28238393/preliminary-evidence-of-improved-cognitive-performance-following-vestibular-rehabilitation-in-children-with-combined-adhd-cadhd-and-concurrent-vestibular-impairment
#7
Younes Lotfi, Nima Rezazadeh, Abdollah Moossavi, Hojjat Allah Haghgoo, Reza Rostami, Enayatollah Bakhshi, Faride Badfar, Sedigheh Farokhi Moghadam, Vahid Sadeghi-Firoozabadi, Yousef Khodabandelou
OBJECTIVE: Balance function has been reported to be worse in ADHD children than in their normal peers. The present study hypothesized that an improvement in balance could result in better cognitive performance in children with ADHD and concurrent vestibular impairment. This study was designed to evaluate the effects of comprehensive vestibular rehabilitation therapy on the cognitive performance of children with combined ADHD and concurrent vestibular impairment. METHODS: Subject were 54 children with combined ADHD...
February 18, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28237879/nadph-oxidase-derived-h2o2-mediates-the-regulatory-effects-of-microglia-on-astrogliosis-in-experimental-models-of-parkinson-s-disease
#8
Liyan Hou, Xueying Zhou, Cong Zhang, Ke Wang, Xiaofang Liu, Yuning Che, Fuqiang Sun, Huihua Li, Qingshan Wang, Dan Zhang, Jau-Shyong Hong
Astrogliosis has long been recognized in Parkinson's disease (PD), the most common neurodegenerative movement disorder. However, the mechanisms of how astroglia become activated remain unclear. Reciprocal interactions between microglia and astroglia play a pivotal role in regulating the activities of astroglia. The purpose of this study is to investigate the mechanism by which microglia regulate astrogliosis by using lipopolysaccharide (LPS) and 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induced mouse PD models...
February 22, 2017: Redox Biology
https://www.readbyqxmd.com/read/28237138/optical-coherence-tomography-angiography-in-chorioretinal-disorders
#9
REVIEW
Paulo Ricardo Chaves De Oliveira, Alan Richard Berger, David Robert Chow
Optical coherence tomography angiography (OCTA) is a novel imaging modality that incorporates blood motion contrast to create angiograms of the retinal vasculature in a noninvasive manner, without the use of dye. It is a safe procedure and can be repeated as frequently as desired. The use of OCTA for delineation of choroidal neovascular membranes, for the study of microvascular abnormalities in diabetic patients, to assess nonperfused areas in retinal occlusions and vascular changes in macular telangiectasia are some of the potential OCTA applications...
February 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28237122/a-new-era-for-nuclear-medicine-neuroimaging-in-spain-where-do-we-start-from-in-spain
#10
M A Balsa, V Camacho, P Garrastachu, D García-Solís, M Gómez-Río, S Rubí, X Setoain, J Arbizu
OBJECTIVE: To determine the status of neuroimaging studies of Nuclear Medicine in Spain during 2013 and first quarter of 2014, in order to define the activities of the neuroimaging group of the Spanish Society of Nuclear Medicine and Molecular Imaging (SEMNIM). MATERIAL AND METHODS: A questionnaire of 14 questions was designed, divided into 3 parts: characteristics of the departments (equipment and professionals involved); type of scans and clinical indications; and evaluation methods...
February 22, 2017: Revista Española de Medicina Nuclear e Imagen Molecular
https://www.readbyqxmd.com/read/28236370/striatal-dysfunction-in-x-linked-dystonia-parkinsonism-is-associated-with-disease-progression
#11
N Brüggemann, R L Rosales, J L Waugh, A J Blood, A Domingo, M Heldmann, R D Jamora, A Münchau, T F Münte, L V Lee, I Buchmann, C Klein
BACKGROUND AND PURPOSE: X-linked dystonia-parkinsonism (XDP) is an inherited neurodegenerative adult-onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes to parkinsonism in XDP. METHODS: Pre- and post-synaptic dopaminergic function was assessed in XDP. A total of 10 (123) jod-benzamide (IBZM) single-photon emission computed tomography (SPECT) images were obtained for nine patients aged 42...
February 25, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28235816/corpus-callosal-atrophy-and-associations-with-cognitive-impairment-in-parkinson-disease
#12
Jennifer G Goldman, Ian O Bledsoe, Doug Merkitch, Vy Dinh, Bryan Bernard, Glenn T Stebbins
OBJECTIVE: To investigate atrophy of the corpus callosum on MRI in Parkinson disease (PD) and its relationship to cognitive impairment. METHODS: One hundred patients with PD and 24 healthy control participants underwent clinical and neuropsychological evaluations and structural MRI brain scans. Participants with PD were classified as cognitively normal (PD-NC; n = 28), having mild cognitive impairment (PD-MCI; n = 47), or having dementia (PDD; n = 25) by Movement Disorder Society criteria...
February 24, 2017: Neurology
https://www.readbyqxmd.com/read/28231463/neural-circuitry-of-wakefulness-and-sleep
#13
REVIEW
Thomas E Scammell, Elda Arrigoni, Jonathan O Lipton
Sleep remains one of the most mysterious yet ubiquitous animal behaviors. We review current perspectives on the neural systems that regulate sleep/wake states in mammals and the circadian mechanisms that control their timing. We also outline key models for the regulation of rapid eye movement (REM) sleep and non-REM sleep, how mutual inhibition between specific pathways gives rise to these distinct states, and how dysfunction in these circuits can give rise to sleep disorders.
February 22, 2017: Neuron
https://www.readbyqxmd.com/read/28231027/insomnia-sleep-quality-and-quality-of-life-in-mild-to-moderate-parkinson-s-disease
#14
Shirin Shafazand, Douglas M Wallace, Kristopher L Arheart, Silvia Vargas, Corneliu C Luca, Henry Moore, Heather Katzen, Bonnie Levin, Carlos Singer
RATIONALE: Sleep disorders are prevalent in Parkinson's disease and yet under reported in clinical settings. The contribution of sleep disorders to health-related quality of life (HRQOL) for patients with this degenerative neurological disease are not well known. OBJECTIVES: To evaluate the impact of insomnia symptoms, obstructive sleep apnea (OSA), and poor sleep quality on HRQOL in a cohort of patients with idiopathic Parkinson's disease. METHODS: We enrolled a convenience sample of 66 adults seen in the University of Miami Movement Disorders Clinic between July 2011 and June 2013...
February 23, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28230845/dynamic-models-of-large-scale-brain-activity
#15
REVIEW
Michael Breakspear
Movement, cognition and perception arise from the collective activity of neurons within cortical circuits and across large-scale systems of the brain. While the causes of single neuron spikes have been understood for decades, the processes that support collective neural behavior in large-scale cortical systems are less clear and have been at times the subject of contention. Modeling large-scale brain activity with nonlinear dynamical systems theory allows the integration of experimental data from multiple modalities into a common framework that facilitates prediction, testing and possible refutation...
February 23, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28229249/adcy5-related-dyskinesia-presenting-as-familial-myoclonus-dystonia
#16
Andrew G L Douglas, Gaia Andreoletti, Kevin Talbot, Simon R Hammans, Jaspal Singh, Andrea Whitney, Sarah Ennis, Nicola C Foulds
We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present in a local cohort of control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele frequency in the 1000 Genomes Project and on phylogenetic conservation yielded 13 candidate variants, of which the heterozygous missense mutation c...
February 22, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28229063/childhood-laryngeal-dystonia-following-bilateral-globus-pallidus-abnormality-a-case-study-and-review-of-literature
#17
Mohammad Javad Saeedi Borujeni, Ebrahim Esfandiary, Mostafa Almasi-Dooghaee
INTRODUCTION: Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia...
January 2017: Iranian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28228718/current-concepts-on-the-physiopathological-relevance-of-dopaminergic-receptors
#18
REVIEW
Ada Ledonne, Nicola B Mercuri
Dopamine (DA) is a key neurotransmitter modulating essential functions of the central nervous system (CNS), like voluntary movement, reward, several cognitive functions and goal-oriented behaviors. The factual relevance of DAergic transmission can be well appreciated by considering that its dysfunction is recognized as a core alteration in several devastating neurological and psychiatric disorders, including Parkinson's disease (PD) and associated movement disorders, as well as, schizophrenia, bipolar disorder, attention deficit hyperactivity disorder (ADHD) and addiction...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28228623/elucidation-of-mechanism-of-blood-brain-barrier-damage-for-prevention-and-treatment-of-vascular-dementia
#19
Masaki Ueno
It is well-known that the blood-brain barrier (BBB) plays significant roles in transporting intravascular substances into the brain. The BBB in cerebral capillaries essentially impedes the influx of intravascular compounds from the blood to the brain, while nutritive substances, such as glucose, can be selectively transported through several types of influx transporters in endothelial cells. In the choroid plexus, intravascular substances can invade the parenchyma as fenestrations exist in endothelial cells of capillaries...
February 22, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28228579/network-wide-oscillations-in-the-parkinsonian-state-alterations-in-neuronal-activities-occur-in-the-premotor-cortex-in-parkinsonian-non-human-primates
#20
Jing Wang, Luke A Johnson, Alicia L Jensen, Kenneth B Baker, Jerrold L Vitek
A number of studies suggest that Parkinson's disease (PD) is associated with alterations of neuronal activity patterns in the basal-ganglia-thalamocortical circuit. There are limited electrophysiological data, however, describing how premotor cortex, which is involved in movement and decision making, is likely impacted in PD. In this study, spontaneous local field potential (LFP) and single unit neuronal activity were recorded in the dorsal premotor area of non-human primates in both the naïve and parkinsonian state using the MPTP model of parkinsonism...
February 22, 2017: Journal of Neurophysiology
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