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https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#1
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28344553/youthful-processing-speed-in-older-adults-genetic-biological-and-behavioral-predictors-of-cognitive-processing-speed-trajectories-in-aging
#2
Nicholas T Bott, Brianne M Bettcher, Jennifer S Yokoyama, Darvis T Frazier, Matthew Wynn, Anna Karydas, Kristine Yaffe, Joel H Kramer
Objective: To examine the impact of genetic, inflammatory, cardiovascular, lifestyle, and neuroanatomical factors on cognitive processing speed (CPS) change over time in functionally intact older adults. Methods: This observational study conducted over two time points, included 120 community dwelling cognitively normal older adults between the ages of 60 and 80 from the University of California San Francisco Memory and Aging Center. Participants were followed with composite measures of CPS, calculated based on norms for 20-30 year-olds...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28343214/moderate-grade-germinal-matrix-haemorrhage-activates-cell-division-in-the-neonatal-mouse-subventricular-zone
#3
William J Dawes, Xinyu Zhang, Stephen P J Fancy, David Rowitch, Silvia Marino
Precise temporal and spatial control of the neural stem/progenitor cells within the subventricular zone (SVZ) germinal matrix of the brain is important for normal development in the third trimester and the early postnatal period. The high metabolic demands of proliferating germinal matrix precursors, coupled with the flimsy structure of the germinal matrix cerebral vasculature, are thought to account for the high rates of haemorrhage in extremely- and very-low-birth-weight preterm infants. Germinal matrix haemorrhage can commonly extend to intraventricular haemorrhage (IVH)...
March 25, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28341872/childhood-adversity-associated-with-white-matter-alteration-in-the-corpus-callosum-corona-radiata-and-uncinate-fasciculus-of-psychiatrically-healthy-adults
#4
Simon McCarthy-Jones, Lena K L Oestreich, Amanda E Lyall, Zora Kikinis, Dominick T Newell, Peter Savadjiev, Martha E Shenton, Marek Kubicki, Ofer Pasternak, Thomas J Whitford
Diffusion tensor imaging studies report childhood adversity (CA) is associated with reduced fractional anisotropy (FA) in multiple white matter tracts in adults. Reduced FA may result from changes in tissue, suggesting myelin/axonal damage, and/or from increased levels of extracellular free-water, suggesting atrophy or neuroinflammation. Free-water imaging can separately identify FA in tissue (FAT) and the fractional volume of free-water (FW). We tested whether CA was associated with altered FA, FAT, and FW in seven white matter regions of interest (ROI), in which FA changes had been previously linked to CA (corona radiata, corpus callosum, fornix, cingulum bundle: hippocampal projection, inferior fronto-occipital fasciculus, superior longitudinal fasciculus, uncinate fasciculus)...
March 25, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28338593/clinical-correlates-to-assist-with-cte-diagnosis-insights-from-a-novel-rodent-repeat-concussion-model
#5
Gretchen M Thomsen, Ara Ko, Megan Y Harada, Annie Ma, Livia Wyss, Patricia Haro, Jean-Philippe Vit, Pablo Avalos, Navpreet Dhillon, Noell Cho, Oksana Shelest, Eric J Ley
INTRODUCTION: Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease linked to repetitive head injuries. CTE symptoms include changes in mood, behavior, cognition and motor function, however CTE is only currently diagnosed post-mortem. Using a rat model of recurrent traumatic brain injury (TBI) we demonstrate rodent deficits that predict the severity of CTE-like brain pathology. METHODS: Bilateral, closed skull, mild TBI was administered once per week to 35 WT rats, 8 rats received 2 injuries ('2xTBI'), 27 rats received 5 injuries ('5xTBI') and 13 rats were sham controls...
March 23, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28338052/dissociable-diffusion-mri-patterns-of-white-matter-microstructure-and-connectivity-in-alzheimer-s-disease-spectrum
#6
Nhat Trung Doan, Andreas Engvig, Karin Persson, Dag Alnæs, Tobias Kaufmann, Jaroslav Rokicki, Aldo Córdova-Palomera, Torgeir Moberget, Anne Brækhus, Maria Lage Barca, Knut Engedal, Ole A Andreassen, Geir Selbæk, Lars T Westlye
Recent efforts using diffusion tensor imaging (DTI) have documented white matter (WM) alterations in Alzheimer's disease (AD). The full potential of whole-brain DTI, however, has not been fully exploited as studies have focused on individual microstructural indices independently. In patients with AD (n = 79), mild (MCI, n = 55) and subjective (SCI, n = 30) cognitive impairment, we applied linked independent component analysis (LICA) to model inter-subject variability across five complementary DTI measures (fractional anisotropy (FA), axial/radial/mean diffusivity, diffusion tensor mode), two crossing fiber measures estimated using a multi-compartment crossing-fiber model reflecting the volume fraction of the dominant (f1) and non-dominant (f2) diffusion orientation, and finally, connectivity density obtained from full-brain probabilistic tractography...
March 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28337409/network-degeneration-and-dysfunction-in-presymptomatic-c9orf72-expansion-carriers
#7
Suzee E Lee, Ana C Sias, Maria Luisa Mandelli, Jesse A Brown, Alainna B Brown, Anna M Khazenzon, Anna A Vidovszky, Theodore P Zanto, Anna M Karydas, Mochtar Pribadi, Deepika Dokuru, Giovanni Coppola, Dan H Geschwind, Rosa Rademakers, Maria Luisa Gorno-Tempini, Howard J Rosen, Bruce L Miller, William W Seeley
Hexanucleotide repeat expansions in C9ORF72 are the most common known genetic cause of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis. Previous work has shown that patients with behavioral variant frontotemporal dementia due to C9ORF72 show salience and sensorimotor network disruptions comparable to those seen in sporadic behavioral variant frontotemporal dementia, but it remains unknown how early in the lifespan these and other changes in brain structure and function arise...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28336497/intrinsic-disruption-of-white-matter-microarchitecture-in-first-episode-drug-naive-major-depressive-disorder-a-voxel-based-meta-analysis-of-diffusion-tensor-imaging
#8
REVIEW
Guangxiang Chen, Yi Guo, Hongyan Zhu, Weihong Kuang, Feng Bi, Hua Ai, Zhongwei Gu, Xiaoqi Huang, Su Lui, Qiyong Gong
Previous studies have demonstrated the influences of episodes and antidepressant drugs on white matter (WM) in patients with major depressive disorder (MDD). However, most diffusion tensor imaging (DTI) studies included highly heterogeneous individuals with different numbers of depressive episodes or medication status. To exclude the confounding effects of multiple episodes or medication, we conducted a quantitative voxel-based meta-analysis of fractional anisotropy (FA) in patients with first-episode, drug-naive MDD to identify the intrinsic WM alterations involved in the pathogenesis of MDD...
March 20, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#9
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
March 21, 2017: Gene
https://www.readbyqxmd.com/read/28335421/pamam-dendrimers-cross-the-blood-brain-barrier-when-administered-through-the-carotid-artery-in-c57bl-6j-mice
#10
Bhairavi Srinageshwar, Sarah Peruzzaro, Melissa Andrews, Kayla Johnson, Allison Hietpas, Brittany Clark, Crystal McGuire, Eric Petersen, Jordyn Kippe, Andrew Stewart, Olivia Lossia, Abeer Al-Gharaibeh, Aaron Antcliff, Rebecca Culver, Douglas Swanson, Gary Dunbar, Ajit Sharma, Julien Rossignol
Drug delivery into the central nervous system (CNS) is challenging due to the blood-brain barrier (BBB) and drug delivery into the brain overcoming the BBB can be achieved using nanoparticles such as dendrimers. The conventional cationic dendrimers used are highly toxic. Therefore, the present study investigates the role of novel mixed surface dendrimers, which have potentially less toxicity and can cross the BBB when administered through the carotid artery in mice. In vitro experiments investigated the uptake of amine dendrimers (G1-NH₂ and G4-NH₂) and novel dendrimers (G1-90/10 and G4-90/10) by primary cortical cultures...
March 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28328116/brain-morphology-in-children-with-nevoid-basal-cell-carcinoma-syndrome
#11
Tadashi Shiohama, Katsunori Fujii, Toshiyuki Miyashita, Hiromi Mizuochi, Hideki Uchikawa, Naoki Shimojo
Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Although cerebellar enlargement occurs in ptch1 heterozygous-deficient mice, its impact on human brain development remains unknown. We investigated the brain morphological characteristics of children with NBCCS...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#12
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28325100/lateral-ventricle-attenuates-underlying-traumatic-axonal-injury-after-closed-head-injury-in-the-mouse
#13
James Bouley, Nils Henninger
Using model systems it has been suggested that the lateral ventricles could act as strain relievers and thereby mitigate traumatic axonal injury (TAI) in adjacent tissues by absorbing energy. We describe attenuated TAI at 48 hours after traumatic brain injury within the corpus callosum overlying the lateral ventricle of wild-type C57BL/6 mice subjected to weight-drop closed head injury. Specifically, there was a conspicuous attenuation of TAI beneath the lateral ventricle under the impact center as assessed by beta amyloid precursor protein staining...
March 22, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28323332/shedding-light-on-gray-ing-areas-connectivity-and-task-switching-dynamics-in-aging
#14
Pauline L Baniqued, Kathy A Low, Mark A Fletcher, Gabriele Gratton, Monica Fabiani
Control-demanding tasks rely on communication among regions of the frontoparietal network, areas that undergo significant age-related decline. Here, we integrate data from brain anatomy, electrophysiology (ERPs), and optical imaging (event-related optical signals, EROS) to characterize the spatial and temporal dynamics of preparatory control processes in middle to old age. Older adults participated in an experiment that required switching between a position and a meaning task (spatial Stroop), a paradigm that has been shown to primarily recruit prefrontal cortex in opposite hemispheres and is thought to involve the corpus callosum (CC)...
March 21, 2017: Psychophysiology
https://www.readbyqxmd.com/read/28322622/central-nervous-system-changes-induced-by-underbody-blast-induced-hyperacceleration-an-in-vivo-diffusion-tensor-imaging-and-magnetic-resonance-spectroscopy-study
#15
Shiyu Tang, Su Xu, William L Fourney, Ulrich H Leiste, Julie L Proctor, Gary Fiskum, Rao P Gullapalli
Blast-related traumatic brain injury (bTBI) resulting from improvised explosive devices is the hallmark injury of recent wars, and affects many returning veterans who experienced either direct or indirect exposure. Many of these veterans have long-term neurocognitive symptoms. However, there is very little evidence to show whether blast-induced acceleration alone, in the absence of secondary impacts, can cause mild TBI. In this study, we examine the effect of under-vehicle blast-induced hyperacceleration (uBIH) of ∼1700 g on the biochemical and microstrucutral changes in the brain using diffusion tensor imaging (DTI) and magnetic resonance spectroscopy (MRS)...
March 21, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28321189/plasma-tau-levels-in-cognitively-normal-middle-aged-and-older-adults
#16
Ming-Jang Chiu, Ling-Yun Fan, Ta-Fu Chen, Ya-Fang Chen, Jen-Jei Chieh, Herng-Er Horng
Using an ultra-sensitive technique, an immunomagnetic reduction assay, the plasma tau level can be measured to a limit of quantification of pg/ml. In total 126 cognitively normal middle-aged and older adults (45-95 years old) were recruited. The plasma tau levels were significantly higher in the older group (aged 65-95 years) 18.14 ± 7.33 pg/ml than those in the middle-aged group (aged 45-64 years) 14.35 ± 6.49 pg/ml when controlled gender and ApoEε4 carrier status (F = 3.102, P = 0.029). The ApoEε4 carriers had higher plasma tau levels than the non-carriers when controlled age and gender (F = 6...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28320840/k-channel-kv3-4-is-essential-for-axon-growth-by-limiting-the-influx-of-ca-2-into-growth-cones
#17
Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur
Membrane excitability in the axonal growth cones of embryonic neurons influences axon growth. Voltage-gated K(+) (Kv) channels are key factors in controlling membrane excitability, but whether they regulate axon growth remains unclear. Here, we report that Kv3.4 is expressed in the axonal growth cones of embryonic spinal commissural neurons, motoneurons, dorsal root ganglion neurons, retinal ganglion cells and callosal projection neurons during axon growth. Our in vitro (cultured dorsal spinal neurons of chick embryos) and in vivo (developing chick spinal commissural axons and rat callosal axons) findings demonstrate that knockdown of Kv3...
March 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28318507/usefulness-of-diffusion-tensor-mri-in-the-diagnosis-of-parkinson-variant-of-multiple-system-atrophy-and-parkinson-s-disease-a-valuable-tool-to-differentiate-between-them
#18
B Chen, G Fan, W Sun, X Shang, S Shi, S Wang, G Lv, C Wu
AIM: To evaluate the differences between patients with Parkinson's disease (PD) and Parkinson variant of multiple system atrophy (MSAp) at fractional anisotropy (FA) in the white matter when using the tract-based spatial statistics (TBSS) algorithm to provide objective markers for a differential diagnosis. MATERIALS AND METHODS: Diffusion-tensor imaging (DTI) data were acquired from 18 PD patients, 20 MSAp patients, and 24 healthy controls using a GE 3 T Signa HDx magnetic resonance imaging (MRI) system...
March 16, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28303959/altered-microstructure-rather-than-morphology-in-the-corpus-callosum-after-lower-limb-amputation
#19
Zhichao Li, Chuanming Li, Lingzhong Fan, Guangyao Jiang, Jixiang Wu, Tianzi Jiang, Xuntao Yin, Jian Wang
The corpus callosum (CC) has been implicated in the reorganization of the brain following amputation. However, it is unclear which regions of the CC are involved in this process. In this study, we explored the morphometric and microstructural changes in CC subregions in patients with unilateral lower limb amputation. Thirty-eight patients and 38 age- and gender-matched normal controls were included. The CC was divided into five regions, and the area, thickness and diffusion parameters of each region were investigated...
March 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28302194/-clinical-and-molecular-genetic-study-of-nonketotic-hyperglycinemia-in-a-chinese-family
#20
Zhi-Jie Gao, Qian Jiang, Qian Chen, Ke-Ming Xu
Nonketotic hyperglycinemia (NKH) is a rare, inborn error of metabolism. In this case report, a Chinese male infant was diagnosed with NKH caused by GLDC gene mutation. The clinical characteristics and genetic diagnosis were reported. The infant presented with an onset of early metabolic encephalopathy and Ohtahara syndrome. Both blood and urinary levels of metabolites were in the normal range. Brain MRI images indicated a poor development of corpus callosum, and a burst suppression pattern was found in the EEG...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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