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https://www.readbyqxmd.com/read/29342244/gli2-rescues-delays-in-brain-development-induced-by-kif3a-dysfunction
#1
Jia-Long Chen, Chia-Hsiang Chang, Jin-Wu Tsai
The primary cilium in neural stem cells plays distinct roles in different stages during cortical development. Ciliary dysfunctions in human (i.e., ciliopathy) cause developmental defects in multiple organs, including brain developmental delays, which lead to intellectual disabilities and cognitive deficits. However, effective treatment to this devastating developmental disorder is still lacking. Here, we first investigated the effects of ciliopathy on neural stem cells by knocking down Kif3a, a kinesin II motor required for ciliogenesis, in the neurogenic stage of cortical development by in utero electroporation of mouse embryos...
January 12, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/29342116/vegf-signaling-in-neurological-disorders
#2
REVIEW
Joon W Shim, Joseph R Madsen
Vascular endothelial growth factor (VEGF) is a potent growth factor playing diverse roles in vasculogenesis and angiogenesis. In the brain, VEGF mediates angiogenesis, neural migration and neuroprotection. As a permeability factor, excessive VEGF disrupts intracellular barriers, increases leakage of the choroid plexus endothelia, evokes edema, and activates the inflammatory pathway. Recently, we discovered that a heparin binding epidermal growth factor like growth factor (HB-EGF)-a class of EGF receptor (EGFR) family ligands-contributes to the development of hydrocephalus with subarachnoid hemorrhage through activation of VEGF signaling...
January 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29342113/mitochondria-oxidative-stress-and-the-kynurenine-system-with-a-focus-on-ageing-and-neuroprotection
#3
REVIEW
Katalin Sas, Elza Szabó, László Vécsei
In this review, the potential causes of ageing are discussed. We seek to gain insight into the main physiological functions of mitochondria and discuss alterations in their function and the genome, which are supposed to be the central mechanisms in senescence. We conclude by presenting the potential modulating role of the kynurenine pathway in the ageing processes. Mitochondrial dynamics are supposed to have important physiological roles in maintaining cell homeostasis. During ageing, a decrease in mitochondrial dynamics was reported, potentially compromising the function of mitochondria...
January 17, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29341323/test-retest-reliability-and-longitudinal-analysis-of-automated-hippocampal-subregion-volumes-in-healthy-ageing-and-alzheimer-s-disease-populations
#4
Amanda Worker, Danai Dima, Anna Combes, William R Crum, Johannes Streffer, Steven Einstein, Mitul A Mehta, Gareth J Barker, Steve C R Williams, Owen O'daly
The hippocampal formation is a complex brain structure that is important in cognitive processes such as memory, mood, reward processing and other executive functions. Histological and neuroimaging studies have implicated the hippocampal region in neuropsychiatric disorders as well as in neurodegenerative diseases. This highly plastic limbic region is made up of several subregions that are believed to have different functional roles. Therefore, there is a growing interest in imaging the subregions of the hippocampal formation rather than modelling the hippocampus as a homogenous structure, driving the development of new automated analysis tools...
January 16, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29341320/spatiotemporal-metabolic-and-therapeutic-characterization-of-altered-functional-connectivity-in-major-depressive-disorder
#5
Jintao Sheng, Yuedi Shen, Yanhua Qin, Lei Zhang, Binjia Jiang, Yaoyao Li, Luoyi Xu, Wei Chen, Jinhui Wang
Although imbalanced functional integration has been increasingly reported in major depressive disorder (MDD), there still lacks a general framework to characterize common characteristic and origin shared by the integrative disturbances. Here we examined spatial selectivity, temporal uniqueness, metabolic basis, and therapeutic response of altered functional connectivity (FC) in MDD by analyzing both cross-sectional and longitudinal multimodal functional magnetic resonance imaging data from 35 patients and 34 demographically matched healthy controls...
January 17, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29341299/autonomous-purkinje-cell-axonal-dystrophy-causes-ataxia-in-peroxisomal-multifunctional-protein-2-deficiency
#6
Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Baes
BACKGROUND: Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4)...
January 17, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29341271/review-shows-that-early-fetal-alcohol-exposure-may-cause-adverse-effects-even-when-the-mother-consumes-low-levels
#7
Ihsan Sarman
AIM: Studies are increasingly focusing on the effects of prenatal alcohol exposure (PAE) on child health. The aim of this review was to provide paediatricians with new insights to help them communicate key messages about avoiding alcohol during pregnancy. METHODS: Inspired by the 7th International Conference on Fetal Alcohol Spectrum Disorder, which focused on integrating research, policy and practice, we studied English language papers published since 2010 on how early PAE triggered epigenetic mechanisms that had an impact on the development of some chronic diseases...
January 17, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29341130/mitochondrial-function-and-autophagy-integrating-proteotoxic-redox-and-metabolic-stress-in-parkinson-s-disease
#8
REVIEW
Jianhua Zhang, M Lillian Culp, Jason G Craver, Victor Darley-Usmar
Parkinson's disease (PD) is a movement disorder with widespread neurodegeneration in the brain. Significant oxidative, reductive, metabolic, and proteotoxic alterations have been observed in PD postmortem brains. The alterations of mitochondrial function resulting in decreased bioenergetic health is important and needs to be further examined to help develop biomarkers for PD severity and prognosis. It is now becoming clear that multiple hits on metabolic and signaling pathways are likely to exacerbate PD pathogenesis...
January 17, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29341021/assessment-of-blood-brain-barrier-leakage-with-gadolinium-enhanced-mri
#9
Min-Chi Ku, Sonia Waiczies, Thoralf Niendorf, Andreas Pohlmann
The integrity of the blood-brain barrier (BBB) can be noninvasively monitored by magnetic resonance imaging (MRI). Conventional MR contrast agents (CAs) containing gadolinium are used in association with MRI in routine clinical practice to detect and quantify BBB leakage. Under normal circumstances CAs do not cross the intact BBB. However due to their small size they extravasate from the blood into the brain tissue even when the BBB is partially compromised. Here we describe an MR method based on T1-weighted images taken prior to and after CA injection...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29341001/dynamic-susceptibility-contrast-mri-in-small-animals
#10
Pilar López-Larrubia
The use of magnetic resonance imaging (MRI) for studying the cerebral perfusion mechanisms is well proved and contrasted in the clinical and research setups. This methodology is a promising tool in assessing numerous brain diseases like intracranial tumors, neurodegeneration processes, mental disorders, injuries and so on. In the preclinical environment, perfusion MRI offers a powerful resource for characterizing pathological models and specially identifying biomarkers to monitor the illness and validate the efficacy of therapeutical approaches...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29340801/maternal-depression-trajectories-from-pregnancy-to-3%C3%A2-years-postpartum-are-associated-with-children-s-behavior-and-executive-functions-at-3-and-6%C3%A2-years
#11
Mina Park, Ursula Brain, Ruth E Grunau, Adele Diamond, Tim F Oberlander
The objective of this study was to investigate how patterns of maternal depressive symptoms from mid-pregnancy to 3 years postpartum are associated with children's behavior at age 3 years and executive functions. Maternal depressive symptoms were measured from mid-pregnancy to 3 years postpartum. Growth mixture modeling was used on standardized maternal depression scores (n = 147) to identify trajectories. Children's behavioral problems and mental health symptomatology (internalizing, externalizing, and attention deficit hyperactivity disorder) were obtained at 3 and 6 years...
January 16, 2018: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/29340742/-wilson-disease
#12
D Huster
Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29340590/efficacy-and-safety-of-deep-brain-stimulation-in-tourette-syndrome-the-international-tourette-syndrome-deep-brain-stimulation-public-database-and-registry
#13
Daniel Martinez-Ramirez, Joohi Jimenez-Shahed, James Frederick Leckman, Mauro Porta, Domenico Servello, Fan-Gang Meng, Jens Kuhn, Daniel Huys, Juan Carlos Baldermann, Thomas Foltynie, Marwan I Hariz, Eileen M Joyce, Ludvic Zrinzo, Zinovia Kefalopoulou, Peter Silburn, Terry Coyne, Alon Y Mogilner, Michael H Pourfar, Suketu M Khandhar, Man Auyeung, Jill Louise Ostrem, Veerle Visser-Vandewalle, Marie-Laure Welter, Luc Mallet, Carine Karachi, Jean Luc Houeto, Bryan Timothy Klassen, Linda Ackermans, Takanobu Kaido, Yasin Temel, Robert E Gross, Harrison C Walker, Andres M Lozano, Benjamin L Walter, Zoltan Mari, William S Anderson, Barbara Kelly Changizi, Elena Moro, Sarah Elizabeth Zauber, Lauren E Schrock, Jian-Guo Zhang, Wei Hu, Kyle Rizer, Erin H Monari, Kelly D Foote, Irene A Malaty, Wissam Deeb, Aysegul Gunduz, Michael S Okun
Importance: Collective evidence has strongly suggested that deep brain stimulation (DBS) is a promising therapy for Tourette syndrome. Objective: To assess the efficacy and safety of DBS in a multinational cohort of patients with Tourette syndrome. Design, Setting, and Participants: The prospective International Deep Brain Stimulation Database and Registry included 185 patients with medically refractory Tourette syndrome who underwent DBS implantation from January 1, 2012, to December 31, 2016, at 31 institutions in 10 countries worldwide...
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29340311/hyponatremia-and-the-brain
#14
REVIEW
Fabrice Gankam Kengne, Guy Decaux
Hyponatremia is defined by low serum sodium concentration and is the most common electrolyte disorder encountered in clinical practice. Serum sodium is the main determinant of plasma osmolality, which, in turn, affects cell volume. In the presence of low extracellular osmolality, cells will swell if the adaptation mechanisms involved in the cell volume maintenance are inadequate. The most dramatic effects of hyponatremia on the brain are seen when serum sodium concentration decreases in a short period, allowing little or no adaptation...
January 2018: KI Reports
https://www.readbyqxmd.com/read/29339533/learning-dependent-chromatin-remodeling-highlights-noncoding-regulatory-regions-linked-to-autism
#15
John N Koberstein, Shane G Poplawski, Mathieu E Wimmer, Giulia Porcari, Charlly Kao, Bruce Gomes, Davide Risso, Hakon Hakonarson, Nancy R Zhang, Robert T Schultz, Ted Abel, Lucia Peixoto
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder that is associated with genetic risk factors. Most human disease-associated single-nucleotide polymorphisms (SNPs) are not located in genes but rather are in regulatory regions that control gene expression. The function of regulatory regions is determined through epigenetic mechanisms. Parallels between the cellular basis of development and the formation of long-term memory have long been recognized, particularly the role of epigenetic mechanisms in both processes...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29339324/oscillatory-synchronous-inhibition-in-the-basolateral-amygdala-and-its-primary-dependence-on-nr2a-containing-nmda-receptors
#16
Vassiliki Aroniadou-Anderjaska, Volodymyr I Pidoplichko, Taiza H Figueiredo, Maria F M Braga
Synchronous, rhythmic firing of GABAergic interneurons is a fundamental mechanism underlying the generation of brain oscillations, and evidence suggests that NMDA receptors (NMDARs) play a key role in oscillatory activity by regulating the activity of interneurons. Consistent with this, derangement of brain rhythms in certain neuropsychiatric disorders, notably schizophrenia and autism, is associated with NMDAR hypofunction and loss of inhibitory interneurons. In the basolateral amygdala (BLA)-dysfunction of which is involved in a host of neuropsychiatric diseases-, principal neurons display spontaneous, rhythmic "bursts" of inhibitory activity, which could potentially be involved in the orchestration of oscillations in the BLA network; here, we investigated the role of NMDARs in these inhibitory oscillations...
January 12, 2018: Neuroscience
https://www.readbyqxmd.com/read/29339192/tissue-specific-differences-in-mitochondrial-dna-maintenance-and-expression
#17
Elena Herbers, Nina J Kekäläinen, Anu Hangas, Jaakko L Pohjoismäki, Steffi Goffart
The different cell types of multicellular organisms have specialized physiological requirements, affecting also their mitochondrial energy production and metabolism. The genome of mitochondria is essential for mitochondrial oxidative phosphorylation (OXHPOS) and thus plays a central role in many human mitochondrial pathologies. Disorders affecting mitochondrial DNA (mtDNA) maintenance are typically resulting in a tissue-specific pattern of mtDNA deletions and rearrangements. Despite this role in disease as well as a biomarker of mitochondrial biogenesis, the tissue-specific parameters of mitochondrial DNA maintenance have been virtually unexplored...
January 12, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29339150/altered-function-of-neuronal-l-type-calcium-channels-in-ageing-and-neuroinflammation-implications-in-age-related-synaptic-dysfunction-and-cognitive-decline
#18
REVIEW
Sheeja Navakkode, Chao Liu, Tuck Wah Soong
The rapid developments in science have led to an increase in human life expectancy and thus, ageing and age-related disorders/diseases have become one of the greatest concerns in the 21st century. Cognitive abilities tend to decline as we get older. This age-related cognitive decline is mainly attributed to aberrant changes in synaptic plasticity and neuronal connections. Recent studies show that alterations in Ca2+ homeostasis underlie the increased vulnerability of neurons to age-related processes like cognitive decline and synaptic dysfunctions...
January 12, 2018: Ageing Research Reviews
https://www.readbyqxmd.com/read/29339004/differential-activation-of-brain-areas-in-children-with-developmental-coordination-disorder-during-tasks-of-manual-dexterity-an-ale-meta-analysis
#19
REVIEW
I Fuelscher, K Caeyenberghs, P G Enticott, J Williams, J Lum, C Hyde
Recent neuroimaging studies have reported atypical neural activation in children with Developmental Coordination Disorder (DCD) during tasks assessing manual dexterity. However, small sample sizes and subtle differences in task parameters have led to inconsistent findings, rendering interpretation difficult. The aim of the present meta-analysis was to quantitatively summarize this body of evidence using activation likelihood estimation (ALE) analysis to identify reliable regions of differential neural activation in children with DCD, compared to age-matched controls...
January 12, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29338494/neural-correlates-of-response-inhibition-in-patients-with-bipolar-disorder-during-acute-vs-remitted-phase
#20
Juliane Kopf, Stefan Glöckner, Martin Schecklmann, Thomas Dresler, Michael M Plichta, Julia Veeh, Sarah Kittel-Schneider, Andreas Reif
OBJECTIVE: Elevated behavioral impulsivity has been shown to be a core feature of bipolar disorder. However, no study has so far investigated impulsivity-related brain activation in patients with BD during acute vs. remitted phase. To address the question whether elevated behavioural impulsivity and its differential neural pathways is a state or trait marker of BD, we employed a combined stop-signal-go/nogo task in 30 controls, 37 depressed and 15 remitted patients who were retested. METHODS: Frontal brain activation was recorded using near-infrared spectroscopy...
January 17, 2018: World Journal of Biological Psychiatry
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