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S Lühl, H Bode, W Schlötzer, M Bartsakoulia, R Horvath, A Abicht, M Stenzel, J Kirschner, S C Grünert
BACKGROUND: Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been reported so far. Characteristic clinical features comprise neonatal lactic acidosis, severe encephalopathy, intractable seizures, feeding problems and profound developmental delay. Most patients show typical neuroradiologic abnormalities including cerebellar hypoplasia and progressive pontocerebellar atrophy...
October 21, 2016: Orphanet Journal of Rare Diseases
Priya D Shanmugarajah, Nigel Hoggard, Stuart Currie, Daniel P Aeschlimann, Pascale C Aeschlimann, Dermot C Gleeson, Mohammed Karajeh, Nicola Woodroofe, Richard A Grünewald, Marios Hadjivassiliou
BACKGROUND: Alcohol-related cerebellar degeneration is one of the commonest acquired forms of cerebellar ataxia. The exact pathogenic mechanisms by which alcohol leads to cerebellar damage remain unknown. Possible autoreactive immune mediated mechanisms have not been explored previously. In this study, we aim to investigate the potential role of alcohol-induced immune mediated cerebellar degeneration. METHODS: Patients with ataxia and a history of alcohol misuse were recruited from the Ataxia and Hepatology tertiary clinics at Sheffield Teaching Hospitals NHS Trust...
2016: Cerebellum & Ataxias
Chen-Jei Hong, Bruce A Hamilton
Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. Unlike most ciliopathy genes, Zfp423 encodes a nuclear protein and its developmental expression is complex, leading to alternative proposals for cellular mechanisms. Here we show that Zfp423 is expressed by cerebellar granule cell precursors, that loss of Zfp423 in these precursors leads to cell-intrinsic reduction in proliferation, loss of response to Shh, and primary cilia abnormalities that include diminished frequency of both Smoothened and IFT88 localization...
October 2016: PLoS Genetics
Matsuo Matsushita
The crossed spinocerebellar tracts originate from neurons in the basolateral part of lamina V, the sacral nuclei of Stilling and the ventrolateral part of the ventral horn of the L6 to caudal segments. The present study examined their projection areas in the cerebellar cortex by using anterograde labeling of mossy fiber terminals with biotinylated dextran in the rat. Labeled terminals were distributed bilaterally in lobules I-V of the anterior lobe. They were most abundant in the apical parts of the lateral vermis and the intermediate region of lobules Ib and IIa, and the rostral side of lobule IIb...
October 5, 2016: Neuroscience Research
Herbert Tejada-Meza, Pedro J Modrego
Extra-ischaemic (remote) brain heamorrhages after thrombolysis for ischaemic stroke occur in less than 3 % of treated patients, but it worsens prognosis. Little attention has been paid to the location of the haematomas. Among 12 patients with remote brain haemorrhage after thrombolysis, we report three patients with haemorrhage in the cerebellar vermis (25 %), with poor outcome. Previous hypertensive vasculopathy is deemed to be the most plausible cause.
October 5, 2016: Neurological Sciences
Cenk Gezer, Atalay Ekin, Naciye Sinem Gezer, Ulas Solmaz, Mehmet Ozeren
BACKGROUND: Evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. OBJECTIVES: The aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. PATIENTS AND METHODS: This prospective study was conducted on 171 volunteer pregnant women between March 2013 and December 2014. Measurements of the fetal cerebellar vermis diameters in the sagittal plane were performed by two-dimensional transabdominal ultrasonography...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
B Shen, L H Su, S Y Zhang
Objective: To investigate the effectiveness and advantage of improved microsurgery for fulminant hemorrhagic dilation of the fourth ventricle. Methods: The clinical data of 21 patients with fulminant hemorrhagic dilation of the fourth ventricle were analyzed retrospectively.All patients underwent hemorrhage evacuation and improved atlantooccipital decompression via middle suboccipital trans-cerebellar vermis approach, with preceding external ventricular drain. Results: One patient died of brainstem failure postoperative, and 20 patients were followed up from 6 to 17 months...
September 20, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Obi L Griffith, Szeman Ruby Chan, Malachi Griffith, Kilannin Krysiak, Zachary L Skidmore, Jasreet Hundal, Julie A Allen, Cora D Arthur, Daniele Runci, Mattia Bugatti, Alexander P Miceli, Heather Schmidt, Lee Trani, Krishna-Latha Kanchi, Christopher A Miller, David E Larson, Robert S Fulton, William Vermi, Richard K Wilson, Robert D Schreiber, Elaine R Mardis
Estrogen receptor alpha-positive (ERα+) luminal tumors are the most frequent subtype of breast cancer. Stat1(-/-) mice develop mammary tumors that closely recapitulate the biological characteristics of this cancer subtype. To identify transforming events that contribute to tumorigenesis, we performed whole genome sequencing of Stat1(-/-) primary mammary tumors and matched normal tissues. This investigation identified somatic truncating mutations affecting the prolactin receptor (PRLR) in all tumor and no normal samples...
September 27, 2016: Cell Reports
Thibault Pasquet, Eva Chinier, Julien Durigneux, Amélie Anselmetti, Chantal Tessiot, Marion Beaumesnil, Matthieu Delion, Mickael Dinomais
OBJECTIVE: We present a case of voiding symptoms after an isolated hemorrhagic cerebellum stroke of the right cerebellum hemisphere and the vermis in a 15 year-old boy with no medical history. The aim of this case is to show existence of a link between cerebellum and micturition. OBSERVATIONS: Following the stroke, the patient described dysuria, confirmed by uroflowmetry, with significants post-voiding residuals. Cystometry showed no detrusor contraction and urethral profilometry showed an increase in sphincter tone...
September 2016: Annals of Physical and Rehabilitation Medicine
Zonglin Shen, Yuqi Cheng, Shuran Yang, Nan Dai, Jing Ye, Xiaoyan Liu, Jin Lu, Na Li, Fang Liu, Yi Lu, Xuejin Sun, Xiufeng Xu
OBJECTIVE: Little is known about the pathological mechanism of early adult onset depression (EOD) and later adult onset depression (LOD). We seek to determine whether grey matter volume (GMV) change in EOD and LOD are different, which could also delineate EOD and LOD. METHODS: In present study, 147 first-episode, drug-naive patients with major depressive disorder (MDD), age between 18 and 45, were divided into two groups on the basis of age of MDD onset: the early adult onset group (age 18-29) and the later adult onset group (age 30-44), and a total of 130 gender-, and age-, matched healthy controls (HC) were also divided into two groups which fit for each patient group...
2016: NeuroImage: Clinical
Martin M Reich, Joachim Brumberg, Nicolò G Pozzi, Giorgio Marotta, Jonas Roothans, Mattias Åström, Thomas Musacchio, Leonardo Lopiano, Michele Lanotte, Ralph Lehrke, Andreas K Buck, Jens Volkmann, Ioannis U Isaias
Thalamic deep brain stimulation is a mainstay treatment for severe and drug-refractory essential tremor, but postoperative management may be complicated in some patients by a progressive cerebellar syndrome including gait ataxia, dysmetria, worsening of intention tremor and dysarthria. Typically, this syndrome manifests several months after an initially effective therapy and necessitates frequent adjustments in stimulation parameters. There is an ongoing debate as to whether progressive ataxia reflects a delayed therapeutic failure due to disease progression or an adverse effect related to repeated increases of stimulation intensity...
September 21, 2016: Brain: a Journal of Neurology
G Lyu
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
W Ji
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Shin C Beh, Teresa C Frohman, Elliot M Frohman
BACKGROUND: The cerebellum plays a central role in the online, real-time control, and long-term modulation of eye movements. EVIDENCE ACQUISITION: We reviewed the latest (fifth) edition of Leigh and Zee's textbook, The Neurology of Eye Movements, and literature in PUBMED using the following terms: cerebellum, flocculus, paraflocculus, vermis, oculomotor vermis, dorsal vermis, caudal fastigial nucleus, fastigial oculomotor region, uvula, nodulus, ansiform lobule, eye movements, saccades, ipsipulsion, contrapulsion, smooth pursuit, vergence, convergence, divergence, gaze-holding, down beat nystagmus, vestibulo-ocular reflex (VOR), angular VOR, translational VOR, skew deviation, velocity storage...
September 16, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
S Boronat, M Vicente, E Lainez, A Sánchez-Montañez, E Vázquez, L Mangado, L Martínez-Ribot, M Del Campo
Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy...
September 13, 2016: European Journal of Medical Genetics
Julián Benito-León, Elan D Louis, Virginia Mato-Abad, Ulrike Dydak, Juan Álvarez-Linera, Juan Antonio Hernández-Tamames, José Antonio Molina-Arjona, Norberto Malpica, Michele Matarazzo, Juan Pablo Romero, Álvaro Sánchez-Ferro
The pathogenesis of orthostatic tremor (OT) remains unclear, although some evidence points to dysfunction in the brainstem or cerebellum. We used single voxel proton magnetic resonance spectroscopy (1H-MRS) (3 T) to investigate whether neurochemical changes underlie abnormal cerebellar or cortical function in OT. Fourteen OT patients and 14 healthy controls underwent 1H-MRS studies with voxels placed in midparietal gray matter and cerebellum (vermis and central white matter). Spectral analysis was analyzed using the software package LCModel (version 6...
September 2016: Medicine (Baltimore)
Valentina Salvi, Xenia Vaira, Veronica Gianello, William Vermi, Mattia Bugatti, Silvano Sozzani, Daniela Bosisio
PGE2 is a lipid mediator abundantly produced in inflamed tissues that exerts relevant immunoregulatory functions. Dendritic cells (DCs) are key players in the onset and shaping of the inflammatory and immune responses and, as such, are well known PGE2 targets. By contrast, the precise role of human DCs in the production of PGE2 is poorly characterized. Here, we asked whether different ligands of Toll-like receptors (TLRs), a relevant family of pathogen-sensing receptors, could induce PGE2 in human DCs. The only active ligands were LPS (TLR4 ligand) and R848 (TLR7-8 ligand) although all TLRs, but TLR9, were expressed and functional...
2016: Mediators of Inflammation
Hye-Kyung Yoon, Seong Whi Cho
Brain ultrasound is widely used for the screening of prematurely born babies. Although the best imaging modality for the central nervous system anomaly is brain MRI, the first imaging study in the post-natal period is brain ultrasonography in most cases. Anomalies could be found incidentally on screening ultrasound, or in those cases already suspected on prenatal ultrasound. In order not to miss congenital structural abnormalities of the brain on screening ultrasound, systematic approaches would be very helpful...
September 2016: Medical Ultrasonography
S Boronat, A Sánchez-Montañez, N Gómez-Barros, C Jacas, L Martínez-Ribot, E Vázquez, M Del Campo
Fetal alcohol spectrum disorders (FASD) include physical and neurodevelopmental abnormalities related to prenatal alcohol exposure. Some neuroimaging findings have been clearly related to FASD, including corpus callosum and cerebellar anomalies. However, detailed studies correlating with specific FASD categories, that is, the fetal alcohol syndrome (FAS), partial FAS (pFAS) and alcohol related neurodevelopmental disorders (ARND), are lacking. We prospectively performed clinical assessment and brain MR imaging to 72 patients with suspected FASD, and diagnosis was confirmed in 62...
September 9, 2016: European Journal of Medical Genetics
Leticia Figueira, Anita Israel
Adrenomedullin (AM) is a multifunctional peptide which exerts numerous biological activities through the activation of AM1 (CRLR + RAMP2) and AM2 (CRLR + RAMP3) receptors. AM immunoreactivity, AM binding sites and CRLR, RAMP1, RAMP2 and RAMP3 are expressed in rat cerebellar vermis. AM binding sites are discretely and differentially distributed in the rat cerebellar cortex with higher levels detected in SHR when compared with WKY rats. In addition, there is an up-regulation of cerebellar CGRP1 (CRLR + RAMP1) and AM2 (CRLR + RAMP3) receptors and a down-regulation of AM1 (CRLR + RAMP2) receptor during hypertension associated with a decreased AM expression...
September 11, 2016: Advances in Experimental Medicine and Biology
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