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https://www.readbyqxmd.com/read/28092268/phenotypic-outcomes-in-mouse-and-human-foxc1-dependent-dandy-walker-cerebellar-malformation-suggest-shared-mechanisms
#1
Parthiv Haldipur, Derek Dang, Kimberly A Aldinger, Olivia K Janson, Fabien Guimiot, Homa Adle-Biasette, William B Dobyns, Joseph R Siebert, Rosa Russo, Kathleen J Millen
FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation.  Previously we found that complete Foxc1 loss leads to aberrations in proliferation, neuronal differentiation and migration in the embryonic mouse cerebellum (Haldipur et al., 2014). We now demonstrate that hypomorphic Foxc1 mutant mice have granule and Purkinje cell abnormalities causing subsequent disruptions in postnatal cerebellar foliation and lamination. Particularly striking is the presence of a partially formed posterior lobule echoing the posterior vermis DW "tail sign" observed in human imaging studies...
January 16, 2017: ELife
https://www.readbyqxmd.com/read/28091557/the-same-oculomotor-vermal-purkinje-cells-encode-the-different-kinematics-of-saccades-and-of-smooth-pursuit-eye-movements
#2
Zongpeng Sun, Aleksandra Smilgin, Marc Junker, Peter W Dicke, Peter Thier
Saccades and smooth pursuit eye movements (SPEM) are two types of goal-directed eye movements whose kinematics differ profoundly, a fact that may have contributed to the notion that the underlying cerebellar substrates are separated. However, it is suggested that some Purkinje cells (PCs) in the oculomotor vermis (OMV) of monkey cerebellum may be involved in both saccades and SPEM, a puzzling finding in view of the different kinematic demands of the two types of eye movements. Such 'dual' OMV PCs might be oddities with little if any functional relevance...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#3
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28075185/cerebellar-heterogeneity-and-its-impact-on-pet-data-quantification-of-5-ht-receptor-radioligands
#4
Melanie Ganz, Ling Feng, Hanne Demant Hansen, Vincent Beliveau, Claus Svarer, Gitte M Knudsen, Douglas N Greve
In the quantification of positron emission tomography (PET) radiotracer binding, a commonly used method is reference tissue modeling (RTM). RTM necessitates a proper reference and a ubiquitous choice for G-protein coupled receptors is the cerebellum. We investigated regional differences in uptake within the grey matter of the cerebellar hemispheres (CH), the cerebellar white matter (CW), and the cerebellar vermis (CV) for five PET radioligands targeting the serotonin system. Furthermore, we evaluated the impact of choosing different reference regions when quantifying neocortical binding...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28072842/fractal-analysis-of-brain-blood-oxygenation-level-dependent-bold-signals-from-children-with-mild-traumatic-brain-injury-mtbi
#5
Olga Dona, Michael D Noseworthy, Carol DeMatteo, John F Connolly
BACKGROUND: Conventional imaging techniques are unable to detect abnormalities in the brain following mild traumatic brain injury (mTBI). Yet patients with mTBI typically show delayed response on neuropsychological evaluation. Because fractal geometry represents complexity, we explored its utility in measuring temporal fluctuations of brain resting state blood oxygen level dependent (rs-BOLD) signal. We hypothesized that there could be a detectable difference in rs-BOLD signal complexity between healthy subjects and mTBI patients based on previous studies that associated reduction in signal complexity with disease...
2017: PloS One
https://www.readbyqxmd.com/read/28062908/role-of-altered-cerebello-thalamo-cortical-network-in-the-neurobiology-of-essential-tremor
#6
Abhishek Lenka, Ketaki Swapnil Bhalsing, Rajanikant Panda, Ketan Jhunjhunwala, Rajini M Naduthota, Jitender Saini, Rose Dawn Bharath, Ravi Yadav, Pramod Kumar Pal
INTRODUCTION: Essential tremor (ET) is the most common movement disorder among adults. Although ET has been recognized as a mono-symptomatic benign illness, reports of non-motor symptoms and non-tremor motor symptoms have increased its clinical heterogeneity. The neural correlates of ET are not clearly understood. The aim of this study was to understand the neurobiology of ET using resting state fMRI. METHODS: Resting state functional MR images of 30 patients with ET and 30 age- and gender-matched healthy controls were obtained...
January 6, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28054126/longitudinal-multi-modal-neuroimaging-in-opsoclonus-myoclonus-syndrome
#7
Sun-Young Oh, Rainer Boegle, Peter Zu Eulenburg, Matthias Ertl, Ji-Soo Kim, Marianne Dieterich
To investigate structural, metabolic, and functional connectivity changes in visual and oculomotor structures in a patient with paraneoplastic opsoclonus-myoclonus syndrome, serial resting-state functional and structural MRI, and FDG-PET data were collected during the acute stage and later on when the opsoclonus had resolved. In the acute stage, an FDG-PET scan demonstrated a substantially increased metabolism in structures around the deep cerebellar nuclei [e.g., fastigial nucleus (FN)] and a relatively reduced metabolism in the bilateral occipital lobes which normalized over 12 months...
January 4, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28053244/distinct-neural-circuits-for-control-of-movement-vs-holding-still
#8
Reza Shadmehr
In generating a point to point movement, the brain does more than produce the transient commands needed to move the body part; it also produces the sustained commands that are needed to hold the body part at its destination. In the oculomotor system, these functions are mapped onto two distinct circuits: a pre-motor circuit that specializes in generating the transient activity that displaces the eyes, and a "neural integrator" that transforms that transient input into sustained activity that holds the eyes...
January 4, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28053192/mature-cd10-and-immature-cd10-neutrophils-present-in-g-csf-treated-donors-display-opposite-effects-on-t-cells
#9
Olivia Marini, Sara Costa, Dalila Bevilacqua, Federica Calzetti, Nicola Tamassia, Cecilia Spina, Donata De Sabata, Elisa Tinazzi, Claudio Lunardi, Maria T Scupoli, Chiara Cavallini, Elisa Zoratti, Ilaria Tinazzi, Antonio Marchetta, Aurora Vassanelli, Maurizio Cantini, Giorgio Gandini, Andrea Ruzzenente, Alfredo Guglielmi, Francesco Missale, William Vermi, Cristina Tecchio, Marco A Cassatella, Patrizia Scapini
The identification of discrete neutrophil populations, as well as the characterization of their immunoregulatory properties, is an emerging topic under extensive investigation. In such regard, the presence of circulating CD66b(+)-neutrophil populations, exerting either immunosuppressive or proinflammatory functions, has been described in several acute and chronic inflammatory conditions. However, due to the lack of specific markers, the precise phenotype and maturation status of these neutrophil populations remain unclear...
January 4, 2017: Blood
https://www.readbyqxmd.com/read/28042140/correction-slandcs-m-dc8-cells-constitute-a-distinct-subset-of-dendritic-cells-in-human-tonsils
#10
Alessandra Micheletti, Giulia Finotti, Federica Calzetti, Silvia Lonardi, Elisa Zoratti, Mattia Bugatti, Stefania Stefini, William Vermi, Marco A Cassatella
No abstract text is available yet for this article.
October 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/28018441/a-neonate-with-joubert-syndrome-presenting-with-symptoms-of-horner-syndrome
#11
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28007337/missense-mutations-of-cacna1a-are-a-frequent-cause-of-autosomal-dominant-nonprogressive-congenital-ataxia
#12
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, Adele D'Amico, Alessandro Capuano, Roberto Frusciante, Matteo Di Capua, Raffaella Cusmai, Sabina Barresi, Silvia Morlino, José M Fernández-Fernández, Marina Trivisano, Nicola Specchio, Massimiliano Valeriani, Federico Vigevano, Enrico Bertini, Ginevra Zanni
BACKGROUND: Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (HM) and episodic or progressive adult-onset ataxia (EA2, SCA6). Most recently, CACNA1A mutations have been identified in patients with nonprogressive congenital ataxia (NPCA). METHODS: We performed targeted resequencing of known genes involved in cerebellar dysfunction, in 48 patients with congenital or early onset ataxia associated with cerebellar and/or vermis atrophy...
November 30, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#13
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27984183/repeated-prenatal-exposure-to-valproic-acid-results-in-cerebellar-hypoplasia-and-ataxia
#14
Stacey L Main, Randy J Kulesza
Autism spectrum disorder (ASD) is a developmental brain disorder characterized by restricted and repetitive patterns of behavior, social and communication defects, and is commonly associated with difficulties with motor coordination. The etiology of ASD, while mostly idiopathic, has been linked to hereditary factors and teratogens, such as valproic acid (VPA). VPA is used clinically to treat epilepsy, mood disorders, and in the prevention of migraines. The use of VPA during pregnancy significantly increases the risk of ASD in the offspring...
October 27, 2016: Neuroscience
https://www.readbyqxmd.com/read/27959436/novel-cc2d2a-compound-heterozygous-mutations-cause-joubert-syndrome
#15
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen
Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput sequencing revealed that JS was caused by coiled‑coil and C2 domain containing 2A (CC2D2A) compound heterozygous mutations...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27956745/altered-brain-processing-of-decision-making-in-healthy-first-degree-biological-relatives-of-suicide-completers
#16
Y Ding, F Pereira, A Hoehne, M-M Beaulieu, M Lepage, G Turecki, F Jollant
Suicidal behavior is heritable, with the transmission of risk being related to the transmission of vulnerability traits. Previous studies suggest that risky decision-making may be an endophenotype of suicide. Here, we aimed at investigating brain processing of decision-making in relatives of suicide completers in order to shed light on heritable mechanisms of suicidal vulnerability. Seventeen healthy first-degree biological relatives of suicide completers with no personal history of suicidal behavior, 16 relatives of depressed patients without any personal or family history of suicidal behavior, and 19 healthy controls were recruited...
December 13, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27923226/intraoperative-tumoral-bleeding-of-hypervascular-medulloblastoma-after-ventricular-drainage-a-case-report
#17
Han-Seung Ryu, Tae-Young Jung, Moon-Soo Han, Seul-Ki Kim, Kyung-Hwa Lee
We report a rare case of intraoperative tumoral bleeding of a hypervascular medulloblastoma. A 12-year-old girl presented with dizziness and nausea. Brain magnetic resonance (MR) images revealed an approximately 4.2-cm enhanced mass on the cerebellar vermis associated with mild perilesional edema and increased cerebral blood volume. Angiography showed tumoral staining and developed occipital and circular dural sinuses in the venous phase. A suboccipital craniotomy was performed. To relieve the intracranial pressure, cerebrospinal fluid (CSF) was drained via a lateral ventricular catheter in the occipital horn...
December 7, 2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27921094/fetal-cerebellar-vermis-circumference-measured-by-2-dimensional-ultrasound-scan-reference-range-feasibility-and-reproducibility
#18
M Spinelli, C Sica, L D Meglio, D Bolla, L Raio, D Surbek
Purpose: To provide 2-dimensional ultrasonographic (2D-US) normograms of cerebellar vermis biometry, as well as to evaluate the feasibility and the reproducibility of these measurements in clinical practice. Materials and Methods: A prospective cross-sectional study of 328 normal singleton pregnancies between 18 and 33 weeks of gestation. Measurements of the fetal cerebellar vermis circumference (VC) in the mid-sagittal plane were performed by both a senior and a junior operator using 2D-US. VC as a function of gestational age (GA) was expressed by regression equations...
November 2016: Ultrasound International Open
https://www.readbyqxmd.com/read/27919636/adrenomedullin-and-angiotensin-ii-signaling-pathways-involved-in-the-effects-on-cerebellar-antioxidant-enzymes-activity
#19
Figueira Leticia, Israel Anita
Human adrenomedullin (AM) is a 52-amino acid peptide involved in cardiovascular control. AM has two specific receptors formed by the calcitonin-receptor-like receptor (CRLR) and receptor activity-modifying protein (RAMP) 2 or 3, known as AM1 and AM2 receptors, respectively. In addition, AM has appreciable affinity for the calcitonin gene-1 related peptide receptor (CGRP1), composed of CRLR/RAMP1. In brain, AM and their receptors are expressed in several localized areas, including the cerebellum. AM has been reported as an antioxidant...
January 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/27893847/a2a-adenosine-receptor-antagonism-reverts-the-blood-brain-barrier-dysfunction-induced-by-sleep-restriction
#20
Gabriela Hurtado-Alvarado, Emilio Domínguez-Salazar, Javier Velázquez-Moctezuma, Beatriz Gómez-González
Chronic sleep restriction induces blood-brain barrier disruption and increases pro-inflammatory mediators in rodents. Those inflammatory mediators may modulate the blood-brain barrier and constitute a link between sleep loss and blood-brain barrier physiology. We propose that adenosine action on its A2A receptor may be modulating the blood-brain barrier dynamics in sleep-restricted rats. We administrated a selective A2A adenosine receptor antagonist (SCH58261) in sleep-restricted rats at the 10th day of sleep restriction and evaluated the blood-brain barrier permeability to dextrans coupled to fluorescein (FITC-dextrans) and Evans blue...
2016: PloS One
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