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https://www.readbyqxmd.com/read/28438224/early-strong-intrathecal-inflammation-in-cerebellar-type-multiple-system-atrophy-by-cerebrospinal-fluid-cytokine-chemokine-profiles-a-case-control-study
#1
Ryo Yamasaki, Hiroo Yamaguchi, Takuya Matsushita, Takayuki Fujii, Akio Hiwatashi, Jun-Ichi Kira
BACKGROUND: The pathology of multiple system atrophy cerebellar-type (MSA-C) includes glial inflammation; however, cerebrospinal fluid (CSF) inflammatory cytokine profiles have not been investigated. In this study, we determined CSF cytokine/chemokine/growth factor profiles in MSA-C and compared them with those in hereditary spinocerebellar ataxia (SCA). METHODS: We collected clinical data and CSF from 20 MSA-C patients, 12 hereditary SCA patients, and 15 patients with other non-inflammatory neurological diseases (OND), and measured 27 cytokines/chemokines/growth factors using a multiplexed fluorescent bead-based immunoassay...
April 24, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28433244/reliability-in-cerebellar-size-assessment-by-2d-cranial-ultrasonography-in-neonates
#2
María Carmen Bravo, Eva Valverde
BACKGROUND: Cerebellar size appears to be correlated with the long-term outcome of preterm infants. Two-dimensional cranial ultrasonography (2D-cUS) is the first-line, routine tool to characterize newborn cerebral structures. Information regarding the accuracy of 2D-cUS for assessing cerebellar size is scarce. OBJECTIVES: To assess the reliability of cerebellar size using 2D-cUS. METHODS: Fifty infants were prospectively scanned for a variety of clinical indications...
April 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28424594/overexpression-of-human-sod1-leads-to-discrete-defects-in-the-cerebellar-architecture-in-the-mouse
#3
Pegah Afshar, Niloufar Ashtari, Xiaodan Jiao, Maryam Rahimi-Balaei, Xiaosha Zhang, Behzad Yaganeh, Marc R Del Bigio, Jiming Kong, Hassan Marzban
The human superoxide dismutase 1 (SOD1) gene is responsible for neutralizing supercharged oxygen radicals within the cell. Mutation in SOD1 gene causes amyotrophic lateral sclerosis (ALS). Recent studies have shown involvement of the cerebellum in ALS, although the cerebellar contribution in SOD1 transgenic mice remains unclear. Using immunohistopathology, we investigated the Purkinje cell phenotype in the vermis of the SOD1 transgenic mice cerebellum. Calbindin 1 (Calb1) and three well-known zone and stripe markers, zebrin II, HSP25, and PLCβ4 have been used to explore possible alteration in zone and stripe...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28397001/gait-ataxia-in-humans-vestibular-and-cerebellar-control-of-dynamic-stability
#4
Roman Schniepp, Ken Möhwald, Max Wuehr
During human locomotion, vestibular feedback control is fundamental for maintaining dynamic stability and adapting the gait pattern to external circumstances. Within the supraspinal locomotor network, the cerebellum represents the key site for the integration of vestibular feedback information. The cerebellum is further important for the fine-tuning and coordination of limb movements during walking. The aim of this review article is to highlight the shared structural and functional sensorimotor principles in vestibular and cerebellar locomotion control...
April 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28391153/degradation-and-characteristic-changes-of-organic-matter-in-sewage-sludge-using-vermi-biofilter-system
#5
Hui-Yuan Zhong, Hao Wang, Xiao Liu, Chang Liu, Guan-Yi Liu, Yang Tian, Xuan-Ming Feng, Yan-Hua Chen
Vermi-biofilter (VF) System could be an efficient sludge treatment unit in regard of rates and extents of total chemical oxygen demand (TCOD) removal, particularly the first 10 days earthworm-treated. This study characterized the organic matter in sludge before and after VF system treatment, with or without earthworm stage. The 60 days earthworm-treated VF system reached a TCOD removal of 10,450 mg/L, bulk DOC removal of 89.5 mg/L, and earthworm density increase from 32 g/L to 43 g/L in sludge EBOM in 60 days of VF system operation...
March 31, 2017: Chemosphere
https://www.readbyqxmd.com/read/28390064/pgap3-related-hyperphosphatasia-with-mental-retardation-syndrome-report-of-10-new-patients-and-a-homozygous-founder-mutation
#6
M S Abdel-Hamid, M Y Issa, G A Otaify, S F Abdel-Ghafar, H M Elbendary, M S Zaki
Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. Herein, we describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Eight patients had cleft palate, four had postnatal microcephaly and five had seizures. Neuroimaging findings showed thin corpus callosum in 9 patients, mild ventriculomegaly in 3 patients and variable degrees of cerebellar vermis hypoplasia in 4 patients, a finding not previously reported in patients with HPMRS...
April 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28371302/functional-monosomy-of-6q27-qter-and-functional-disomy-of-xpter-p22-11-due-to-x-6-translocation-with-an-atypical-x-inactivation-pattern
#7
Anna Podolska, Albrecht Kobelt, Sigrid Fuchs, Karl Hackmann, Andreas Rump, Evelin Schröck, Kerstin Kutsche, Nataliya Di Donato
Pattern of X chromosome inactivation (XCI) is typically random in females. However, chromosomal rearrangements affecting the X chromosome can result in XCI skewing due to cell growth disadvantage. In case of an X;autosome translocation, this usually leads to an XCI pattern of 100:0 with the derivative X being the active one in the majority of females. A de novo balanced X;6 translocation [46,X,t(X;6)(p22.1;q27)] and a completely skewed XCI pattern (100:0) were detected in a female patient with microcephaly, cerebellar vermis hypoplasia, heart defect, and severe developmental delay...
March 31, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28358358/the-cerebellum-in-dual-task-performance-in-parkinson-s-disease
#8
Linlin Gao, Jiarong Zhang, Yanan Hou, Mark Hallett, Piu Chan, Tao Wu
Parkinson's disease (PD) patients have difficulty in performing a dual-task. It has been suggested that the cerebellum is important in dual-tasking. We used functional MRI to investigate the role of the cerebellum in performing a dual motor and cognitive task in PD patients. We have examined whether there are any areas additionally activated for dual-task performance, and compared the neural activity and functional connectivity pattern in the cerebellum between PD patients and healthy controls. We found that the right cerebellar vermis and left lobule V of cerebellar anterior lobe were additionally activated for dual-task performance in healthy controls and for motor task in PD patients...
March 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28344062/il-21-may-promote-granzyme-b-dependent-nk-plasmacytoid-dendritic-cell-functional-interaction-in-cutaneous-lupus-erythematosus
#9
Valentina Salvi, William Vermi, Andrea Cavani, Silvia Lonardi, Teresa Carbone, Fabio Facchetti, Daniela Bosisio, Silvano Sozzani
Autoimmune skin lesions are characterized by a complex cytokine milieu and by the accumulation of plasmacytoid dendritic cells (pDCs). Granzyme B (GrB) transcript is abundant in activated pDCs, though its mechanisms of regulation and biological role are largely unknown. Here we report that IL-21 was the only Th1/Th17 cytokine able to induce the expression and secretion of GrB by pDCs and that this action was counteracted by the autocrine production of type I interferons (IFNs). In lupus erythematosus (LE) skin lesions, the percentage of GrB(+) pDCs directly correlated with the IL-21/MxA ratio, indicating that the interplay between these two cytokines finely tune the levels of pDC-dependent GrB also in vivo...
March 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28341975/longitudinal-volumetric-and-2d-assessment-of-cerebellar-atrophy-in-a-large-cohort-of-children-with-phosphomannomutase-deficiency-pmm2-cdg
#10
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, Daniel Cuadras, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Andrea Poretti, Mercedes Serrano
OBJECTIVE: We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. METHODS: Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages...
March 24, 2017: Journal of Inherited Metabolic Disease
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/28320199/comparison-of-imaging-using-11-c-itmm-and-18-f-fdg-for-the-detection-of-cerebellar-ataxia
#12
Kenji Ishibashi, Yoshiharu Miura, Jun Toyohara, Kenji Ishii, Kiichi Ishiwata
Objective Newly developed methods for imaging type 1 metabotropic glutamate receptor (mGluR1) have the potential use for estimating cerebellar function. We aimed to compare mGluR1 imaging using N-[4-[6-(isopropylamino)pyrimidin-4-yl]-1,3-thiazol-2-yl]-4-(11)C-methoxy-N-methylbenzamide ((11)C-ITMM) with the existing marker, fluorine-18-labeled fluorodeoxyglucose ((18)F-FDG) imaging, in the cerebellum. METHODS: Fourteen subjects consisting of 12 patients with cerebellar ataxia and two healthy subjects underwent (11)C-ITMM and (18)F-FDG positron emission tomography...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319687/effects-of-subclinical-depression-anxiety-and-somatization-on-brain-structure-in-healthy-subjects
#13
Bianca Besteher, Christian Gaser, Kerstin Langbein, Maren Dietzek, Heinrich Sauer, Igor Nenadić
BACKGROUND: Dimensional approaches in highly prevalent psychiatric disorders like depression or anxiety could lead to a better understanding of pathogenesis and advantages in early detection and prevention. In an effort to better understand associations of brain structural variation across the depression/anxiety spectra, we investigated minor subclinical symptoms in a non-clinical healthy population. METHODS: We studied 177 healthy subjects from the community, who underwent high-resolution T1-weighted 3T MRI and completed the symptom-checklist-90 (SCL-90-R)...
March 16, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28319124/different-subregional-metabolism-patterns-in-patients-with-cerebellar-ataxia-by-18f-fluorodeoxyglucose-positron-emission-tomography
#14
Minyoung Oh, Jae Seung Kim, Jungsu S Oh, Chong Sik Lee, Sun Ju Chung
We evaluated cerebellar subregional metabolic alterations in patients with cerebellar ataxia, a representative disease involving the spinocerebellum. We retrospectively analyzed 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) images in 44 patients with multiple system atrophy of the cerebellar type (MSA-C), 9 patients with spinocerebellar ataxia (SCA) type 2, and 14 patients with SCA type 6 and compared with 15 patients with crossed cerebellar diaschisis (CCD) and 89 normal controls. Cerebellar subregional metabolism was assessed using 13 cerebellar subregions (bilateral anterior lobes [ANT], superior/mid/inferior posterior lobes [SUPP/MIDP/INFP], dentate nucleus [DN], anterior vermis [ANTV], and superior/inferior posterior vermis [SUPV/INFV]) to determine FDG uptake ratios...
2017: PloS One
https://www.readbyqxmd.com/read/28304238/remote-motor-system-metabolic-profile-and-surgery-outcome-in-cervical-spondylotic-myelopathy
#15
Sorin C Craciunas, Mircea R Gorgan, Bogdan Ianosi, Phil Lee, Joseph Burris, Carmen M Cirstea
OBJECTIVE In patients with cervical spondylotic myelopathy (CSM), the motor system may undergo progressive functional/structural changes rostral to the lesion, and these changes may be associated with clinical disability. The extent to which these changes have a prognostic value in the clinical recovery after surgical treatment is not yet known. In this study, magnetic resonance spectroscopy (MRS) was used to test 2 primary hypotheses. 1) Based on evidence of corticospinal and spinocerebellar, rubro-, or reticulospinal tract degeneration/dysfunction during chronic spinal cord compression, the authors hypothesized that the metabolic profile of the primary motor cortices (M1s) and cerebellum, respectively, would be altered in patients with CSM, and these alterations would be associated with the extent of the neurological disabilities...
March 17, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28303385/after-effects-of-cerebellar-continuous-theta-burst-stimulation-on-reflexive-saccades-and-smooth-pursuit-in-humans
#16
Silvia Colnaghi, P Colagiorgio, S Ramat, E D'Angelo, G Koch, M Versino
The use of cerebellar repetitive transcranial magnetic stimulation has been attempted for perturbing reflexive and voluntary eye movements, but discrepancies are seen between the results of distinct studies possibly due to the different stimulation sites, intensities, and paradigms. We describe the after effects of 20 and 40 s continuous Theta Burst Stimulation (cTBS) as compared to sham stimulation, applied over the lateral cerebellar vermis and paravermis on Reflexive Saccades (RS) and Smooth Pursuit (SP) eye movements, recorded in the 30 min following stimulation...
March 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/28298967/magnetic-resonance-imaging-in-the-assessment-of-brain-involvement-in-alcoholic-and-nonalcoholic-wernicke-s-encephalopathy
#17
Gianvincenzo Sparacia, Andrea Anastasi, Claudia Speciale, Francesco Agnello, Aurelia Banco
AIM: To present the typical and atypical magnetic resonance (MR) imaging findings of alcoholic and non-alcoholic Wernicke's encephalopathy. METHODS: This study included 7 patients with Wernicke's encephalopathy (2 men, 5 women; mean age, 52.3 years) that underwent brain MR examination between January 2012 and March 2016 in a single institution. Three patients were alcoholics and 4 patients were non-alcoholics. MR protocol included a T2-weighted sequence, a fluid attenuation inversion recovery (FLAIR) sequence, a diffusion-weighted sequence (b = 0 and 1000 s/mm(2)), and a contrast-enhanced MR sequence...
February 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28293179/disynaptic-subthalamic-input-to-the-posterior-cerebellum-in-rat
#18
Saad Jwair, Patrice Coulon, Tom J H Ruigrok
In the last decade, the interplay between basal ganglia and cerebellar functions has been increasingly advocated to explain their joint operation in both normal and pathological conditions. Yet, insight into the neuroanatomical basis of this interplay between both subcortical structures remains sparse and is mainly derived from work in primates. Here, in rodents, we have studied the existence of a potential disynaptic connection between the subthalamic nucleus (STN) and the cerebellar cortex as has been demonstrated earlier for the primate...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28288540/brainstem-vermis-and-brainstem-tentorium-angles-3d-ultrasound-study-of-the-intra-and-inter-observer-agreement
#19
Tamara Illescas, Pilar Martínez-Ten, Carmina Bermejo, María Estévez, Begoña Adiego
OBJECTIVE: The brainstem-vermis angle (BVA) and the brainstem-tentorium angle (BTA) have been proposed to quantify vermian and tentorial alterations associated to fetal posterior fossa malformations. Our objective is to evaluate the intra- and inter-observer agreement for the measurement of these angles during the prenatal ultrasound scan. METHODS: Fifteen 3D sets from fetuses with posterior fossa pathology were processed by multiplanar navigation. Four experts in prenatal ultrasound measured the BVA and the BTA on a mid-sagittal view of the fetal brain, following the criteria described by Volpe(1)...
March 13, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28283722/fanconi-anemia-correlating-central-nervous-system-malformations-and-genetic-complementation-groups
#20
Benjamin A Johnson-Tesch, Rakhee S Gawande, Lei Zhang, Margaret L MacMillan, David R Nascene
BACKGROUND: Congenital central nervous system abnormalities in children with Fanconi anemia are poorly characterized, especially with regard to specific genetic complementation groups. OBJECTIVE: To characterize the impact of genetic complementation groups on central nervous system anatomy. MATERIALS AND METHODS: Through chart review we identified 36 patients with Fanconi anemia with available brain MRIs at the University of Minnesota (average age, 11...
March 10, 2017: Pediatric Radiology
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