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https://www.readbyqxmd.com/read/28203460/the-prevalence-of-anti-aquaporin-4-antibody-in-patients-with-idiopathic-inflammatory-demyelinating-diseases-presented-to-a-tertiary-hospital-in-malaysia-presentation-and-prognosis
#1
S Abdullah, W F Wong, C T Tan
Background. There have been inconsistent reports on the prevalence and pathogenicity of anti-Aquaporin 4 (AQP4) in patients presented with idiopathic inflammatory demyelinating diseases (IIDDs). Objective. To estimate the prevalence of anti-AQP4 antibody in patients with IIDDs presented to University Malaya Medical Centre in terms of patients' clinical and radiological presentations and prognoses. Methods. Retrospective data review of IIDDs patients presented from 2005 to 2015. Patients were classified into classical multiple sclerosis (CMS), opticospinal (OS) presentation, optic neuritis (ON), transverse myelitis (TM), brainstem syndrome (BS), and tumefactive MS...
2017: Multiple Sclerosis International
https://www.readbyqxmd.com/read/28202828/-diagnosis-of-cochleovestibular-neurovascular-compression-syndrome-a-scoring-system-based-on-five-clinical-characteristics
#2
Tomomi Okamura, Takafumi Nishizaki, Norio Ikeda, Shigeki Nakano, Takanori Sakakura, Natsumi Fujii, Takeshi Okuda
: The optimal method for diagnosing cochleovestibular neurovascular compression syndrome(CNVC)remains controversial, and the aim of this study is to develop a standard diagnostic instrument for the condition. The clinical features of 53 sides of 50 patients with a combination of vertigo, tinnitus, and/or hearing loss were retrospectively evaluated. The following five clinical features were evaluated and given a score of 1 or 0:1)a long history of recurrent vertigo, tinnitus, or hearing loss;2)neurological findings related to positional vertigo, nystagmus, tinnitus, or hearing loss;3)neuro-otological findings involving tinnitus, audiometry, or vestibular testing;4)auditory brainstem response(ABR)evaluation with the detection of a low 25-75% II wave amplitude on the contralateral side and delayed interpeak latency in the I-III or I-V waves(usually low II wave amplitude combined with double peaks and a wide-based form)during ABR evaluation using 80 and 90dB clicks;and 5)the detection of vascular contact with the eighth cranial nerve on magnetic resonance imaging-constructive interference in steady state or air computed tomography imaging...
February 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28178980/novel-neuro-audiological-findings-and-further-evidence-for-twnk-involvement-in-perrault-syndrome
#3
Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński
BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous symbol C10orf2) cause the autosomal recessive disorder but they are found only in about half of the patients. METHODS: We report on two siblings with a clinical picture resembling a severe, neurological type of PRLTS...
February 8, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28160432/detection-of-a-novel-sapelovirus-in-central-nervous-tissue-of-pigs-with-polioencephalomyelitis-in-the-usa
#4
P H E Arruda, B L Arruda, K J Schwartz, F Vannucci, T Resende, A Rovira, P Sundberg, J Nietfeld, B M Hause
An approximately 3,000 finishing swine operation in the United States experienced an outbreak of an atypical neurologic disease in 11-weeks-old pigs with an overall morbidity of 20% and case fatality rate of 30%. The clinical onset and progression of signs in affected pigs varied but included inappetence, compromised ambulation, ataxia, incoordination, mental dullness, paresis, paralysis and decreased response to environmental stimuli. Tissues from affected pigs were submitted for diagnostic investigation. Histopathologic examination of the cerebrum, cerebellum and spinal cord revealed severe lymphoplasmacytic and necrotizing polioencephalomyelitis with multifocal areas of gliosis and neuron satellitosis, suggestive of a neurotropic viral infection...
February 3, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28159705/demyelinating-syndrome-in-sle-encompasses-different-subtypes-do-we-need-new-classification-criteria-pooled-results-from-systematic-literature-review-and-monocentric-cohort-analysis
#5
Matteo Piga, Elisabetta Chessa, Maria Teresa Peltz, Alberto Floris, Alessandro Mathieu, Alberto Cauli
OBJECTIVE: To describe features of demyelinating syndrome (DS) in systemic lupus erythematosus (SLE). METHODS: A systematic review using a combination of Mesh terms in PubMed and a retrospective analysis of 343 adult patients with SLE were carried out to identify patients with DS. Retrieved cases were classified as affected with DS according to 1999 ACR nomenclature and attributed to SLE by applying the 2015 algorithm. DS defined according to the clinical but not temporal 1999 ACR criteria was classified as clinically isolated syndrome (CIS)...
January 31, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28137897/blood-brain-and-binocular-vision
#6
Egle Rostron, Mary Polly Dickerson, Gregory Heath
A man aged 51 years presented with sudden onset, horizontal, binocular, double vision and right facial weakness. Ocular motility examination demonstrated a right horizontal gaze palsy pattern in keeping with a one-and-a-half syndrome. Since this was associated with a concomitant, ipsilateral, lower motor neuron (LMN) facial (VIIth) cranial nerve palsy, he had acquired an eight-and-a-half syndrome. Diffusion-weighted MRI confirmed a small infarcted area in the pons of the brainstem which correlated with anatomical location of the horizontal gaze centre and VIIth cranial nerve fasciculus...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28128429/-neurofibromatosis-type-2-in-childhood-a-clinical-characterization
#7
C M Hinojosa-Mateo, J A Reche-Sainz, A Hernandez-Nunez, M Ramos-Lopez, A Arpa-Fernandez, D Natera-de Benito
INTRODUCTION: Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities. CASE REPORT: A 12-year old male with diagnosis of MF2 according to Baser et al and presentation in childhood was included. A comprehensive bibliographic review of evolution of the diagnostic criteria for NF2 in children was performed...
February 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28127514/interhemispheric-characterization-of-small-vessel-disease-imaging-markers-after-subcortical-infarct
#8
Maria Del C Valdés Hernández, Xinyi Qiu, Xin Wang, Stewart Wiseman, Eleni Sakka, Lucy C Maconick, Fergus Doubal, Cathie L M Sudlow, Joanna M Wardlaw
BACKGROUND: In structural Magnetic Resonance Imaging (MRI) of patients with a recent small subcortical infarct (RSSI) and small vessel disease (SVD) imaging markers coexist. However, their spatial distribution and prevalence with respect to the hemisphere of the RSSI remain unknown. MATERIALS AND METHODS: From brain MRI in 187 patients with an acute lacunar ischemic stroke clinical syndrome and a relevant diffusion weighted imaging (DWI)-positive lesion, we semiautomatically extracted the RSSI, microbleeds, lacunes, old cortical infarcts, and white matter hyperintensities (WMH) using optimized thresholding in the relevant sequences, and rated the load of perivascular spaces...
January 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28125082/molecular-genetic-findings-and-clinical-correlations-in-100-patients-with-joubert-syndrome-and-related-disorders-prospectively-evaluated-at-a-single-center
#9
Thierry Vilboux, Daniel A Doherty, Ian A Glass, Melissa A Parisi, Ian G Phelps, Andrew R Cullinane, Wadih Zein, Brian P Brooks, Theo Heller, Ariane Soldatos, Neal L Oden, Deniz Yildirimli, Meghana Vemulapalli, James C Mullikin, Nisc Comparative Sequencing Program, May Christine V Malicdan, William A Gahl, Meral Gunay-Aygun
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients. METHODS: In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES)...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28120618/a-case-report-of-migraine-sine-headache
#10
Arens Taga, Marco Russo, Antonio Genovese, Gian Camillo Manzoni, Paola Torelli
Background and objectives We describe a case of a female patient whose otherwise "typical" migraine attacks turned into episodes with a full spectrum of associated symptoms but without headache. Case report We evaluated a 53-year-old woman with a long history of migraine without aura. In concomitance with premenopausal menstrual dysregulation, she reported episodes of nausea and vomiting, associated with photophobia, phonophobia and osmophobia, but without headache; these episodes were responsive to oral triptans...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28114835/dorsal-striatum-d1-expressing-neurons-are-involved-with-sensorimotor-gating-on-prepulse-inhibition-test
#11
Samanta Rodrigues, Cristiane Salum, Tatiana L Ferreira
Prepulse inhibition (PPI) is a behavioral test in which the startle reflex response to a high-intensity stimulus (pulse) is inhibited by the prior presentation of a weak stimulus (prepulse). The classic neural circuitry that mediates startle response is localized in the brainstem; however, recent studies point to the contribution of structures involved in higher cognitive functions in regulating the sensorimotor gating, particularly forebrain regions innervated by dopaminergic nuclei. The aim of the present study was to verify the role of dorsal striatum (DS) and dopaminergic transmitting mediated by D1 and D2 receptors on PPI test in rats...
January 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28108647/effects-of-early-life-exposure-to-thip-on-brainstem-neuronal-excitability-in-the-mecp2-null-mouse-model-of-rett-syndrome-before-and-after-drug-withdrawal
#12
Weiwei Zhong, Christopher M Johnson, Ningren Cui, Max F Oginsky, Yang Wu, Chun Jiang
Rett syndrome (RTT) is mostly caused by mutations of the X-linked MECP2 gene. Although the causal neuronal mechanisms are still unclear, accumulating experimental evidence obtained from Mecp2(-/Y) mice suggests that imbalanced excitation/inhibition in central neurons plays a major role. Several approaches may help to rebalance the excitation/inhibition, including agonists of GABAA receptors (GABAAR). Indeed, our previous studies have shown that early-life exposure of Mecp2-null mice to the extrasynaptic GABAAR agonist THIP alleviates several RTT-like symptoms including breathing disorders, motor dysfunction, social behaviors, and lifespan...
January 2017: Physiological Reports
https://www.readbyqxmd.com/read/28089423/crossed-cheiro-oral-syndrome-a-warning-sign-for-medullary-involvement-and-neurological-deterioration
#13
Wei-Hsi Chen, Tsung-Pei Yang, Hsin-Ling Yin
Crossed cheiro-oral syndrome (CCOS) is characterized by crossed sensory disturbance confined to the unilateral perioral area and contralateral hand/finger(s). Although a few classical crossed sensory syndromes accurately predict brainstem or spinal involvement, the clinical significance of CCOS remains unclear. In this study, we analyzed the etiology, localization and outcome of CCOS patients. The results showed that ischemic stroke is the exclusive cause of CCOS. The location of responsible stroke is pertinent to the middle or upper level of the lateral medulla oblongata medial to the lateral sulcus...
January 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#14
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/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#15
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28069353/effects-of-chronic-exposure-to-low-dose-thip-on-brainstem-neuronal-excitability-in-mouse-models-of-rett-syndrome-evidence-from-symptomatic-females
#16
Weiwei Zhong, Christopher Mychal Johnson, Ningren Cui, Hao Xing, Yang Wu, Chun Jiang
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations of the MECP2 gene, affecting predominantly females. One of the characteristic features of the disease is defective brainstem autonomic function. In Mecp2(-/Y) mice, several groups of brainstem neurons are overly excitable, which causes destabilization of neuronal networks for the autonomic control. We have previously shown that the extrasynaptic GABAA receptor agonist THIP relieves many RTT-like symptoms in Mecp2(-/Y) mice. Although neuronal activity is inhibited by acute THIP exposure, how a chronic treatment affects neuronal excitability remains elusive...
January 6, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28051280/tongue-somatosensory-evoked-potentials-reflect-midbrain-involvement-in-patients-with-clinically-isolated-syndrome
#17
Magdalena Krbot Skorić, Ivan Adamec, Luka Crnošija, Tereza Gabelić, Barbara Barun, Ivana Zadro, Silva Butković Soldo, Mario Habek
AIM: To test the hypothesis that tSSEP findings reflect clinical and MRI MS lesions, the aim of this study was to investigate tSSEP changes in patients with clinically isolated syndrome (CIS) in relation to clinical and brainstem MRI findings. The second aim was to investigate whether the interpretation of the tSSEP results in the form of the tSSEP score enables better evaluation of the afferent trigeminal pathway involvement than analyzing each tSSEP parameter separately. METHODS: 115 consecutive CIS patients were enrolled from August 1, 2014 until March 1, 2016...
December 31, 2016: Croatian Medical Journal
https://www.readbyqxmd.com/read/28028976/evaluating-the-hearing-of-patients-with-pseudoexfoliation-syndrome
#18
Hanna Temporale, Anna Karasińska-Kłodowska, Anna Turno-Kręcicka, Monika Morawska-Kochman, Karolina Dorobisz, Krzysztof Dudek, Marta Misiuk-Hojło, Tomasz Kręcicki
BACKGROUND: It is estimated that pseudoexfoliation syndrome (PEX) occurs in 10-20% of the general population over 60 years of age, and its morbidity increases with age. Some research indicates that PEX may be a systemic disease. Some experts state that it can also lead to ear dysfunction. OBJECTIVES: The aim of the study was to evaluate the incidence and type of hearing disorders in patients with PEX. MATERIAL AND METHODS: The study included 51 patients (102 eyes) hospitalized in Wroclaw Medical University Hospital's Department of Ophthalmology and scheduled for cataract surgery in 2012-2014...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28025863/anorexia-cachexia-syndrome-in-hepatoma-tumour-bearing-rats-requires-the-area-postrema-but-not-vagal-afferents-and-is-paralleled-by-increased-mic-1-gdf15
#19
Tito Borner, Myrtha Arnold, Johan Ruud, Samuel N Breit, Wolfgang Langhans, Thomas A Lutz, Anders Blomqvist, Thomas Riediger
BACKGROUND: The cancer-anorexia-cachexia syndrome (CACS) negatively affects survival and therapy success in cancer patients. Inflammatory mediators and tumour-derived factors are thought to play an important role in the aetiology of CACS. However, the central and peripheral mechanisms contributing to CACS are insufficiently understood. The area postrema (AP) and the nucleus tractus solitarii are two important brainstem centres for the control of eating during acute sickness conditions...
December 26, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28017229/vestibular-evoked-myogenic-potentials-and-mri-in-early-multiple-sclerosis-validation-of-the-vemp-score
#20
Luka Crnošija, Magdalena Krbot Skorić, Tereza Gabelić, Ivan Adamec, Mario Habek
BACKGROUND: To validate the VEMP score as a measure of brainstem dysfunction in patients with the first symptom of multiple sclerosis (MS) (clinically isolated syndrome (CIS)) and to investigate the correlation between VEMP and brainstem MRI results. METHODS: 121 consecutive CIS patients were enrolled and brainstem functional system score (BSFS) was determined. Ocular VEMP (oVEMP) and cervical VEMP (cVEMP) were analyzed for latencies, conduction block and amplitude asymmetry ratio and the VEMP score was calculated...
January 15, 2017: Journal of the Neurological Sciences
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