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https://www.readbyqxmd.com/read/28335041/the-cerebellum-and-its-wrapping-meninge-developmental-interplay-between-two-major-structures
#1
Martin Catala
Meninges have long been considered as a protective and supportive tissue for the central nervous system. Nevertheless, new developmental roles are now attributed to them. The meninges that surround the cerebellum come from the cephalic mesoderm. They are essential for the cerebellum to develop normally. They induce and maintain the basal lamina and glia limitans. In the absence of these structures, the external granular cells of the cerebellum migrate aberrantly and penetrate the subarachnoid space. The molecules involved in the recognition between the cerebellar primordium and the basal lamina belong to two groups in humans: dystroglycan and laminin on the one hand, and GPR56 and collagen III on the other...
March 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28335020/znhit3-is-defective-in-peho-syndrome-a-severe-encephalopathy-with-cerebellar-granule-neuron-loss
#2
Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J Yang, Tiina Jääskeläinen, Mirja Somer, Eija Siintola, Eveliina Jakkula, Mikko Muona, Saara Tegelberg, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Anders Paetau, Melody P Lun, Johanna Hästbacka, Outi Kopra, Tarja Joensuu, Nicholas Katsanis, Maria K Lehtinen, Jorma J Palvimo, Anna-Elina Lehesjoki
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome. ZNHIT3 encodes a nuclear zinc finger protein previously implicated in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly and thus possibly to pre-ribosomal RNA processing...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28335019/clinical-approach-to-delayed-onset-cerebellar-impairment-following-deep-brain-stimulation-for-tremor
#3
Maria Fiorella Contarino, Riaan van Coller, Arne Mosch, Niels A van der Gaag, Carel F Hoffmann
No abstract text is available yet for this article.
February 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334995/reply-clinical-approach-to-delayed-onset-cerebellar-impairment-following-deep-brain-stimulation-for-tremor
#4
Martin M Reich, Nicolò G Pozzi, Joachim Brumberg, Mattias Åström, Jens Volkmann, Ioannis U Isaias
No abstract text is available yet for this article.
February 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#5
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334401/vocal-tract-images-reveal-neural-representations-of-sensorimotor-transformation-during-speech-imitation
#6
Daniel Carey, Marc E Miquel, Bronwen G Evans, Patti Adank, Carolyn McGettigan
Imitating speech necessitates the transformation from sensory targets to vocal tract motor output, yet little is known about the representational basis of this process in the human brain. Here, we address this question by using real-time MR imaging (rtMRI) of the vocal tract and functional MRI (fMRI) of the brain in a speech imitation paradigm. Participants trained on imitating a native vowel and a similar nonnative vowel that required lip rounding. Later, participants imitated these vowels and an untrained vowel pair during separate fMRI and rtMRI runs...
March 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28334159/characterization-of-white-matter-tracts-by-diffusion-mr-tractography-in-cat-and-ferret-that-have-similar-gyral-patterns
#7
Avilash Das, Emi Takahashi
The developmental relationships between gyral structures and white matter tracts have long been debated, but it is still difficult to discern whether they influence each other's development or are causally related. To explore this topic, this study used cats and ferrets as models for species that share similar gyral folding patterns and imaged with diffusion magnetic resonance imaging to compare white matter innervations in homologous gyri and other brain regions. Adult cat and ferret brains were analyzed via diffusion spectrum imaging tractography and homologous regions of interest were compared...
March 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28332073/aicardi-gouti%C3%A3-res-syndrome-unusual-neuro-radiological-manifestations
#8
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Hala T El-Bassyouni, Laila Effat, Maha S Zaki
Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts...
March 23, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28331800/altered-functional-brain-connectivity-in-patients-with-visually-induced-dizziness
#9
Angelique Van Ombergen, Lizette Heine, Steven Jillings, R Edward Roberts, Ben Jeurissen, Vincent Van Rompaey, Viviana Mucci, Stefanie Vanhecke, Jan Sijbers, Floris Vanhevel, Stefan Sunaert, Mohamed Ali Bahri, Paul M Parizel, Paul H Van de Heyning, Steven Laureys, Floris L Wuyts
BACKGROUND: Vestibular patients occasionally report aggravation or triggering of their symptoms by visual stimuli, which is called visually induced dizziness (VID). These patients therefore experience dizziness, discomfort, disorientation and postural unsteadiness. The underlying pathophysiology of VID is still poorly understood. OBJECTIVE: The aim of the current explorative study was to gain a first insight in the underlying neural aspects of VID. METHODS: We included 10 VID patients and 10 healthy matched controls, all of which underwent a resting state fMRI scan session...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28330424/tentorial-meningioma-supplied-by-a-marginal-tentorial-artery-arising-from-the-superior-cerebellar-artery-anatomic-and-technical-considerations
#10
Stéphanie Lenck, Kentaro Watanabe, Jean-Pierre Saint-Maurice, Moujahed Labidi, Marc-Antoine Labeyrie, Sébastien Froelich, Emmanuel Houdart
Background and importance The marginal tentorial artery runs over the free edge of the tentorium. Different origins have been described, always involving branches of the carotid artery. We report the superior cerebellar artery as an unknown origin of this artery. We developed our strategy in a case of a tentorial meningioma mainly supplied by this artery. Clinical presentation A 53-year-old man was admitted in our institution for the surgical treatment of a large tentorial and petroclival meningioma. A 2D conventional angiogram was insufficient to detect the tumoral blush...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28329683/inactivation-of-ezh2-upregulates-gfi1-and-drives-aggressive-myc-driven-group-3-medulloblastoma
#11
BaoHan T Vo, Chunliang Li, Marc A Morgan, Ilan Theurillat, David Finkelstein, Shaela Wright, Judith Hyle, Stephanie M C Smith, Yiping Fan, Yong-Dong Wang, Gang Wu, Brent A Orr, Paul A Northcott, Ali Shilatifard, Charles J Sherr, Martine F Roussel
The most aggressive of four medulloblastoma (MB) subgroups are cMyc-driven group 3 (G3) tumors, some of which overexpress EZH2, the histone H3K27 mono-, di-, and trimethylase of polycomb-repressive complex 2. Ezh2 has a context-dependent role in different cancers as an oncogene or tumor suppressor and retards tumor progression in a mouse model of G3 MB. Engineered deletions of Ezh2 in G3 MBs by gene editing nucleases accelerated tumorigenesis, whereas Ezh2 re-expression reversed attendant histone modifications and slowed tumor progression...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28329257/lessons-learned-at-the-epicenter-of-brazil-s-congenital-zika-epidemic-evidence-from-87-confirmed-cases
#12
Jucille do Amaral Meneses, Ana Catarina Ishigami, Luisa Medeiros de Mello, Luciano Lira de Albuquerque, Carlos Alexandre Antunes de Brito, Marli Tenório Cordeiro, Lindomar José Pena
Congenital Zika virus infection has stimulated great international concern. A prospective case series of 87 infants with laboratory-confirmed congenital Zika syndrome (CZS) at the epicenter of the Brazilian Zika epidemic in Pernambuco state is presented. Mothers were interviewed for symptoms of possible Zika virus (ZIKV) infection during pregnancy and fetal ultrasounds were obtained. Infant cerebrospinal fluid (CSF) samples were tested for ZIKV specific antibodies and sera were screened for other congenital infections...
February 24, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28328855/head-to-head-comparison-of-11c-pib-and-18f-fc119s-for-a%C3%AE-imaging-in-healthy-subjects-mild-cognitive-impairment-patients-and-alzheimer-s-disease-patients
#13
Byung Hyun Byun, Byung Il Kim, Su Yeon Park, In Ok Ko, Kyo Chul Lee, Kyeong Min Kim, Yu Kyeong Kim, Jun-Young Lee, Seon Hee Bu, Jung Hwa Kim, Dae Yoon Chi, Jeong Ho Ha, Sang Moo Lim
As a new beta amyloid (Aβ) positron emission tomography (PET) tracer, F-FC119S has shown higher cortical uptake in patients with Alzheimer's disease (AD) than that in healthy control subjects without adverse effects in a previous preliminary study. The aim of this study was to compare F-FC119S PET and C-PiB PET in healthy control (HC) subjects, mild cognitive impairment (MCI) patients, and AD patients.A total of 48 subjects, including 28 HC subjects, 10 MCI patients, and 10 AD patients, underwent static F-FC119S PET (30 minutes after intravenous [i...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328605/unusual-association-cerebral-arteriovenous-malformation-and-chiari-type-i-malformation
#14
Hayri Ogul, Mecit Kantarci
Cerebral arteriovenous malformation (AVM) is a common type of cerebral vascular malformation. The imaging findings are enlarged vessels, thrombosed sinuses, and hemorrhage or gliosis on adjacent brain parenchyma. Magnetic resonance (MR) imaging can be used safely for diagnosis. Chiari type I malformation is characterized by a caudal descent of the cerebellar tonsil. Coincidence of cerebral AVM and Chiari type I malformation is very rare. In this paper, the authors report MR imaging findings of a patient with coincidence of cerebral AVM and Chiari type I malformation...
March 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28328116/brain-morphology-in-children-with-nevoid-basal-cell-carcinoma-syndrome
#15
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/28327921/the-superior-cerebellar-artery-aneurysm-a-posterior-circulation-aneurysm-with-favorable-microsurgical-outcomes
#16
Ana Rodríguez-Hernández, Brian P Walcott, Harjus Birk, Michael T Lawton
BACKGROUND: Superior cerebellar artery (SCA) aneurysms are usually grouped with aneurysms that arise from the upper basilar artery or more broadly, the posterior circulation. However, the SCA aneurysm has distinctive anatomy that facilitates safe surgical management, notably few associated perforating arteries, and excellent exposure in the carotid-oculomotor triangle. OBJECTIVE: To demonstrate the outcomes of patients treated with microsurgery in a continuous surgical series...
January 24, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28326436/reference-region-selection-and-the-association-between-the-rate-of-amyloid-accumulation-over-time-and-the-baseline-amyloid-burden
#17
Janusch Blautzik, Matthias Brendel, Julia Sauerbeck, Sebastian Kotz, Franziska Scheiwein, Peter Bartenstein, John Seibyl, Axel Rominger
Relative quantitative analysis of amyloid plaque burden in Alzheimer's disease (AD) patients can be reported as standardized uptake value ratio (SUVR) from positron emission tomography (PET). Here, the SUVR is the ratio of the mean amyloid radioligand retention in a composite (COMP) neocortical volume of interest (VOI) to that in a reference VOI, such as the cerebellum, brainstem (BST)/pons, or white matter (WM). Some longitudinal PET investigations show that the rate of amyloid accumulation to follow-up has an inverted U relationship with baseline amyloid SUVR relative to cerebellar or brainstem/pons reference VOIs...
March 22, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28326215/osteoradionecrosis-of-the-temporal-bone-leading-to-cerebellar-abscess
#18
Thomas B Layton
Squamous cell carcinoma of the temporal bone is a rare and destructive malignancy and represents both diagnostic and therapeutic challenge. The complex regional anatomy of the temporal bone requires equally intricate surgical techniques to adequately resect the tumour mass during surgical excision. Adjuvant radiotherapy is offered to patients with advanced disease and has been showed to confer a survival benefit in carefully selected patients. One feared complication of radiotherapy is osteoradionecrosis and is a major obstacle faced in the treatment of head and neck cancers...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28325028/tracking-intrinsic-connectivity-brain-network-features-during-successive-pseudo-resting-states-and-interoceptive-task-fmri
#19
Behnaz Jarrahi, Dante Mantini
Advanced multivariate analyses of functional magnetic resonance imaging (fMRI) data based on blood oxygen level-dependent (BOLD) contras have revealed that the human brain organizes its activities into multiple intrinsic connectivity networks (ICNs). Several fMRI studies have evaluated the modulations of these networks during different cognitive or emotional tasks using blind source separation techniques particularly the independent component analysis (ICA). In this exploratory study, we applied ICA methodology to examine ICN modulations under different interoceptive conditions...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324197/the-spectrum-of-magnetic-resonance-findings-in-cerebrotendinous-xanthomatosis-redefinition-and-evidence-of-new-markers-of-disease-progression
#20
Andrea Mignarri, Maria Teresa Dotti, Antonio Federico, Nicola De Stefano, Marco Battaglini, Irene Grazzini, Paolo Galluzzi, Lucia Monti
Cerebrotendinous xanthomatosis (CTX) is a metabolic disease characterized by systemic signs and neurological impairment, which can be prevented if chenodeoxycholic acid (CDCA) treatment is started early. Despite brain MRI represents an essential diagnostic tool, the spectrum of findings is worth to be reappraised, and follow-up data are needed. We performed clinical evaluation and brain MRI in 38 CTX patients. Sixteen of them who were untreated at baseline examination underwent clinical and MRI follow-up after long-term treatment with CDCA...
March 21, 2017: Journal of Neurology
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