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Corpus callosum development

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https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#1
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29136105/same-genes-different-brains-neuroanatomical-differences-between-monozygotic-twins-discordant-for-musical-training
#2
Örjan de Manzano, Fredrik Ullén
Numerous cross-sectional and observational longitudinal studies show associations between expertise and regional brain anatomy. However, since these designs confound training with genetic predisposition, the causal role of training remains unclear. Here, we use a discordant monozygotic (identical) twin design to study expertise-dependent effects on neuroanatomy using musical training as model behavior, while essentially controlling for genetic factors and shared environment of upbringing. From a larger cohort of monozygotic twins, we were able to recruit 18 individuals (9 pairs) that were highly discordant for piano practice...
November 9, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29133428/intact-hemisphere-and-corpus-callosum-compensate-for-visuomotor-functions-after-early-visual-cortex-damage
#3
Alessia Celeghin, Matteo Diano, Beatrice de Gelder, Lawrence Weiskrantz, Carlo A Marzi, Marco Tamietto
Unilateral damage to the primary visual cortex (V1) leads to clinical blindness in the opposite visual hemifield, yet nonconscious ability to transform unseen visual input into motor output can be retained, a condition known as "blindsight." Here we combined psychophysics, functional magnetic resonance imaging, and tractography to investigate the functional and structural properties that enable the developing brain to partly overcome the effects of early V1 lesion in one blindsight patient. Visual stimuli appeared in either the intact or blind hemifield and simple responses were given with either the left or right hand, thereby creating conditions where visual input and motor output involve the same or opposite hemisphere...
November 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29131075/the-cerebellar-cerebral-microstructure-is-disrupted-at-multiple-sites-in-very-preterm-infants-with-cerebellar-haemorrhage
#4
Vera Neubauer, Tanja Djurdjevic, Elke Griesmaier, Marlene Biermayr, Elke Ruth Gizewski, Ursula Kiechl-Kohlendorfer
BACKGROUND: Recent advances in magnetic resonance imaging (MRI) techniques have prompted reconsideration of the anatomical correlates of adverse outcomes in preterm infants. The importance of the contribution made by the cerebellum is now increasingly appreciated. The effect of cerebellar haemorrhage (CBH) on the microstructure of the cerebellar-cerebral circuit is largely unexplored. OBJECTIVES: To investigate the effect of CBH on the microstructure of cerebellar-cerebral connections in preterm infants aged <32 gestational weeks...
November 9, 2017: Neonatology
https://www.readbyqxmd.com/read/29128446/disrupted-focal-white-matter-integrity-in-autism-spectrum-disorder-a-voxel-based-meta-analysis-of-diffusion-tensor-imaging-studies
#5
Xin Di, Azeezat Azeez, Xiaobo Li, Emad Haque, Bharat B Biswal
BACKGROUND: Autism spectrum disorder (ASD) is a mental disorder that has long been considered to result from brain underconnectivity. However, volumetric analysis of structural MRI data has failed to find consistent white matter alterations in patients with ASD. The present study aims to examine whether there are consistent focal white matter alterations as measured by diffusion tensor imaging (DTI) in individuals with ASD compared with typically developing (TD) individuals. METHOD: Coordinate-based meta-analysis was performed on 14 studies that reported fractional anisotropy (FA) alterations between individuals with ASD and TD individuals...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29111113/understanding-the-relationship-between-brain-and-upper-limb-function-in-children-with-unilateral-motor-impairments-a-multimodal-approach
#6
Maya Weinstein, Dido Green, Julian Rudisch, Ingar M Zielinski, Marta Benthem-Muñiz, Marijtje L A Jongsma, Verity McClelland, Bert Steenbergen, Shelly Shiran, Dafna Ben Bashat, Gareth J Barker
Atypical brain development and early brain injury have profound and long lasting impact on the development, skill acquisition, and subsequent independence of a child. Heterogeneity is present at the brain level and at the motor level; particularly with respect to phenomena of bilateral activation and mirrored movements (MMs). In this multiple case study we consider the feasibility of using several modalities to explore the relationship between brain structure and/or activity and hand function: Electroencephalography (EEG), both structural and functional Magnetic Resonance Imaging (sMRI, fMRI), diffusion tensor imaging (DTI), transcranial magnetic stimulation (TMS), Electromyography (EMG) and hand function assessments...
October 12, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29107171/progression-from-isolated-growth-hormone-deficiency-to-combined-pituitary-hormone-deficiency
#7
REVIEW
Manuela Cerbone, Mehul T Dattani
Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. The number, severity and timing of occurrence of additional endocrinopathies are highly variable. The risk of progression from IGHD to CPHD in children varies depending on the etiology (idiopathic vs organic)...
October 19, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29102664/atypical-callosal-morphology-in-children-with-speech-sound-disorder
#8
Eileen Luders, Florian Kurth, Lauren Pigdon, Gina Conti-Ramsden, Sheena Reilly, Angela T Morgan
Speech sound disorder (SSD) is common, yet its neurobiology is poorly understood. Recent studies indicate atypical structural and functional anomalies either in one hemisphere or both hemispheres, which might be accompanied by alterations in inter-hemispheric connectivity. Indeed, abnormalities of the corpus callosum - the main fiber tract connecting the two hemispheres - have been linked to speech and language deficits in associated disorders, such as stuttering, dyslexia, aphasia, etc. However, there is a dearth of studies examining the corpus callosum in SSD...
November 2, 2017: Neuroscience
https://www.readbyqxmd.com/read/29099717/planimetric-characteristics-of-corpus-callosum-sagittal-profile-in-middle-and-advanced-aged-men
#9
O Boiagina, Yu Kostilenko
The sagittal profile of the corpus callosum is available for morphometric measurements of conditioned linear distances when elucidating its age-related changes and sexual dimorphism. But in this case, the opportunity to determine the total area of the sagittal profile of the corpus callosum is lost, while being a more full expression of its digital characteristics. We set the goal to establish the differences between planimetric indices of male corpus callosum of the first and second periods of adulthood and the advanced age...
October 2017: Georgian Medical News
https://www.readbyqxmd.com/read/29099309/the-autophagy-inducing-kinases-ulk1-and-ulk2-regulate-axon-guidance-in-the-developing-mouse-forebrain-via-a-noncanonical-pathway
#10
Bo Wang, Rekha Iyengar, Xiujie Li-Harms, Joung Hyuck Joo, Christopher Wright, Alfonso Lavado, Linda Horner, Mao Yang, Jun-Lin Guan, Sharon Frase, Douglas R Green, Xinwei Cao, Mondira Kundu
Mammalian ULK1 (unc-51 like kinase 1) and ULK2, Caenorhabditis elegans UNC-51, and Drosophila melanogaster Atg1 are serine/threonine kinases that regulate flux through the autophagy pathway in response to various types of cellular stress. C. elegans UNC-51 and D. melanogaster Atg1 also promote axonal growth and defasciculation; disruption of these genes results in defective axon guidance in invertebrates. Although disrupting ULK1/2 function impairs normal neurite outgrowth in vitro, the role of ULK1 and ULK2 in the developing brain remains poorly characterized...
November 3, 2017: Autophagy
https://www.readbyqxmd.com/read/29091783/neurodevelopmental-outcome-in-prenatally-diagnosed-isolated-agenesis-of-the-corpus-callosum
#11
Lise Folliot-Le Doussal, Alexandra Chadie, Marie Brasseur-Daudruy, Eric Verspyck, Pascale Saugier-Veber, Stéphane Marret
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. OBJECTIVE: To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC...
October 29, 2017: Early Human Development
https://www.readbyqxmd.com/read/29080698/cilostazol-alleviates-white-matter-degeneration-caused-by-chronic-cerebral-hypoperfusion-in-mice-implication-of-its-mechanism-from-gene-expression-analysis
#12
Ryo Ohtomo, Taro Bannai, Gaku Ohtomo, Akihiro Shindo, Hidekazu Tomimoto, Shoji Tsuji, Atsushi Iwata
Cilostazol is known to alleviate white matter demyelination due to chronic cerebral hypoperfusion in rodent models, although their pharmacological mechanisms remain unclear. In this study, we investigated the protective effect of cilostazol in relation to gene expression profile. Bilateral common carotid artery stenosis (BCAS) mice were treated with oral administration of cilostazol or placebo starting from a week after the surgery. Demyelination of the cingulum was compared between the 2 groups 2, 6, and 10 weeks after initial drug administration...
October 27, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29079524/whole-brain-white-matter-connectivity-analysis-using-machine-learning-an-application-to-autism
#13
Fan Zhang, Peter Savadjiev, Weidong Cai, Yang Song, Yogesh Rathi, Birkan Tunç, Drew Parker, Tina Kapur, Robert T Schultz, Nikos Makris, Ragini Verma, Lauren J O'Donnell
In this paper, we propose an automated white matter connectivity analysis method for machine learning classification and characterization of white matter abnormality via identification of discriminative fiber tracts. The proposed method uses diffusion MRI tractography and a data-driven approach to find fiber clusters corresponding to subdivisions of the white matter anatomy. Features extracted from each fiber cluster describe its diffusion properties and are used for machine learning. The method is demonstrated by application to a pediatric neuroimaging dataset from 149 individuals, including 70 children with autism spectrum disorder (ASD) and 79 typically developing controls (TDC)...
October 25, 2017: NeuroImage
https://www.readbyqxmd.com/read/29079486/exposure-to-fine-and-ultrafine-particulate-matter-during-gestation-alters-postnatal-oligodendrocyte-maturation-proliferation-capacity-and-myelination
#14
Carolyn Klocke, Joshua L Allen, Marissa Sobolewski, Jason L Blum, Judith T Zelikoff, Deborah A Cory-Slechta
Accumulating studies indicate that the brain is a direct target of air pollution exposure during the fetal period. We have previously demonstrated that exposure to concentrated ambient particles (CAPs) during gestation produces ventriculomegaly, periventricular hypermyelination, and enlargement of the corpus callosum (CC) during postnatal development in mice. This study aimed to further characterize the cellular basis of the observed hypermyelination and determine if this outcome, among other effects, persisted as the brain matured...
October 24, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/29078390/wd40-repeat-47-a-microtubule-associated-protein-is-essential-for-brain-development-and-autophagy
#15
Meghna Kannan, Efil Bayam, Christel Wagner, Bruno Rinaldi, Perrine F Kretz, Peggy Tilly, Marna Roos, Lara McGillewie, Séverine Bär, Shilpi Minocha, Claire Chevalier, Chrystelle Po, Jamel Chelly, Jean-Louis Mandel, Renato Borgatti, Amélie Piton, Craig Kinnear, Ben Loos, David J Adams, Yann Hérault, Stephan C Collins, Sylvie Friant, Juliette D Godin, Binnaz Yalcin
The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes assessed, we found 7 displaying a major impact in neuronal morphology when inactivated in mice. Remarkably, all seven genes showed corpus callosum defects, including thicker (Atg16l1, Coro1c, Dmxl2, and Herc1), thinner (Kif21b and Wdr89), or absent corpus callosum (Wdr47), revealing a common role for WDR genes in brain connectivity. We focused on the poorly studied WDR47 protein sharing structural homology with LIS1, which causes lissencephaly...
October 12, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29068161/dcc-mutation-update-congenital-mirror-movements-isolated-agenesis-of-the-corpus-callosum-and-developmental-split-brain-syndrome
#16
Ashley Pl Marsh, Timothy J Edwards, Charles Galea, Helen M Cooper, Elizabeth C Engle, Saumya S Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A Walsh, Timothy W Yu, Delphine Heron, Elliott H Sherr, Linda J Richards, Christel Depienne, Richard J Leventer, Paul J Lockhart
The deleted in colorectal cancer (DCC) gene encodes the netrin-1 receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum, or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome...
October 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/29066395/associations-between-prenatal-childhood-and-adolescent-stress-and-variations-in-white-matter-properties-in-young-men
#17
REVIEW
Sarah K G Jensen, Melissa Pangelinan, Lassi Björnholm, Anja Klasnja, Alexander Leemans, Mark Drakesmith, C J Evans, Edward D Barker, Tomáš Paus
OBJECTIVE: Previous studies have shown that both pre- and post-natal adversities, the latter including exposures to stress during childhood and adolescence, explain variations in structural properties of white matter (WM) in the brain. While previous studies have examined effects of independent stress exposures within one developmental period, such as childhood, we examine effects of stress across development using data from a prospective longitudinal study. More specifically, we ask how stressful events during prenatal development, childhood, and adolescence relate to variation in WM properties in early adulthood in men recruited from a birth cohort...
October 21, 2017: NeuroImage
https://www.readbyqxmd.com/read/29056290/the-extent-of-edema-and-tumor-synchronous-invasion-into-the-subventricular-zone-and-corpus-callosum-classify-outcomes-and-radiotherapy-strategies-of-glioblastomas
#18
Hsiang-Kuang Tony Liang, Wan-Yu Chen, Shih-Fan Lai, Mao-Yuan Su, San-Lin You, Liang-Hsin Chen, Ham-Min Tseng, Chung-Ming Chen, Sung-Hsin Kuo, Wen-Yih Isaac Tseng
BACKGROUND AND PURPOSE: Irradiating glioblastoma preoperative edema (PE) remains controversial. We investigated the associations between tumors' PE extent with invasion into synchronous subventricular zone and corpus callosum (sSVZCC) and treatment outcomes to provide the clinical evidence for radiotherapy decision-making. MATERIAL AND METHODS: Extensive PE (EPE) was defined as PE extending ≥2 cm from the tumor edge and extensive progressive disease (EPD) as tumors spreading ≥2 cm from the preoperative tumor edge along PE...
October 19, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#19
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29046883/human-neural-stem-cell-transplantation-into-the-corpus-callosum-of-alzheimer-s-mice
#20
Lisa M McGinley, Osama N Kashlan, Kevin S Chen, Elizabeth S Bruno, John M Hayes, Carey Backus, Seth Feldman, Bader N Kashlan, Karl Johe, Eva L Feldman
The hippocampus has been the target of stem cell transplantations in preclinical studies focused on Alzheimer's disease, with results showing improvements in histological and behavioral outcomes. The corpus callosum is another structure that is affected early in Alzheimer's disease. Therefore, we hypothesize that this structure is a novel target for human neural stem cell transplantation in transgenic Alzheimer's disease mouse models. This study demonstrates the feasibility of targeting the corpus callosum and identifies an effective immunosuppression regimen for transplanted neural stem cell survival...
October 2017: Annals of Clinical and Translational Neurology
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