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https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28012542/audiological-findings-in-children-with-ataxia-telangiectasia-a-t-syndrome
#8
Pretty O Afifi, Hanaa Hussein Elsanadiky
AIM: To assess peripheral and central hearing in children with A-T. METHOD: 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in the form of chorea-athetosis together with tremors. They were examined to assess both peripheral and central hearing was assessed (hearing thresholds). Sound-field testing, tympanometry, acoustic reflexes, Otoacoustic Emissions (OAEs) and Auditory Brainstem Responses (ABR) were done for all of them...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27997920/chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-syndrome-diagnostic-challenge-of-the-brainstem-inflammation
#9
Joanna Bladowska, Marta Waliszewska-Prosół, Agata Rojek, Krystian Obara, Anna Pokryszko-Dragan, Ryszard Podemski
No abstract text is available yet for this article.
December 21, 2016: European Neurology
https://www.readbyqxmd.com/read/27994367/brainstem-dysfunction-in-patients-with-late-onset-lennox-gastaut-syndrome-voxel-based-morphometry-and-tract-based-spatial-statistics-study
#10
Kang Min Park, Yun Jung Hur, Sung Eun Kim
BACKGROUND: There have been a few reports of patients who developed Lennox-Gastaut syndrome (LGS) in the second decades of their life. OBJECTIVES: The aim of this study was to investigate electroclinical presentation in patients with late-onset LGS. In addition, we evaluated structural abnormalities of the brain, which may give some clue about the common pathogenic pathway in LGS. MATERIALS AND METHODS: We enrolled the patients with late-onset LGS...
October 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27982254/electrophysiological-characterization-of-hearing-in-individuals-with-down-syndrome
#11
Hellen Medeiros Kazan, Alessandra Giannella Samelli, Ivone Ferreira Neves-Lobo, Fernanda Cristina Leite Magliaro, Suelly Cecília Olivan Limongi, Carla Gentile Matas
Introduction: Few studies have performed Brainstem (BAEP) and P300 Auditory Evoked Potentials simultaneously to assess central auditory pathways in normal hearing individuals with Down syndrome (DS), mainly because of the difficulty in applying these procedures to this population. Previous studies have suggested that individuals with DS might present different patterns of response compared with those of individuals with typical development; nevertheless, the identification of these potentials would be crucial for the establishment of an accurate audiological diagnosis...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27974981/an-overlapping-case-of-miller-fisher-syndrome-bickerstaff-s-encephalitis-and-the-asman-variant-of-guillain-barre-syndrome
#12
E J Pegg, S K Chhetri, U G Lekwuwa, T Majeed
A 56-year-old man presented with a 3-day history of progressive tingling of the hands, unsteadiness, and diplopia. He was initially diagnosed clinically with Miller Fisher Syndrome (MFS) but later developed limb weakness consistent with Guillain-Barre Syndrome (GBS) and subsequently reduced consciousness consistent with Bickerstaff's brainstem encephalitis (BBE). Neurophysiology revealed an axonal motor and sensory neuropathy, in keeping with the Acute Motor and Sensory Axonal Neuropathy (AMSAN) variant of GBS...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27959908/ectopic-mineralization-and-conductive-hearing-loss-in-enpp1asj-mutant-mice-a-new-model-for-otitis-media-and-tympanosclerosis
#13
Cong Tian, Belinda S Harris, Kenneth R Johnson
Otitis media (OM), inflammation of the middle ear, is a common cause of hearing loss in children and in patients with many different syndromic diseases. Studies of the human population and mouse models have revealed that OM is a multifactorial disease with many environmental and genetic contributing factors. Here, we report on otitis media-related hearing loss in asj (ages with stiffened joints) mutant mice, which bear a point mutation in the Enpp1 gene. Auditory-evoked brainstem response (ABR) measurements revealed that around 90% of the mutant mice (Enpp1asj/asj) tested had moderate to severe hearing impairment in at least one ear...
2016: PloS One
https://www.readbyqxmd.com/read/27957508/neurochondrin-is-a-neuronal-target-antigen-in-autoimmune-cerebellar-degeneration
#14
Ramona Miske, Catharina C Gross, Madeleine Scharf, Kristin S Golombeck, Marvin Hartwig, Urvashi Bhatia, Andreas Schulte-Mecklenbeck, Kathrin Bönte, Christine Strippel, Ludger Schöls, Matthis Synofzik, Hubertus Lohmann, Inga Madeleine Dettmann, Michael Deppe, Swantje Mindorf, Tobias Warnecke, Yvonne Denno, Bianca Teegen, Christian Probst, Stefanie Brakopp, Klaus-Peter Wandinger, Heinz Wiendl, Winfried Stöcker, Sven G Meuth, Lars Komorowski, Nico Melzer
OBJECTIVE: To report on a novel neuronal target antigen in 3 patients with autoimmune cerebellar degeneration. METHODS: Three patients with subacute to chronic cerebellar ataxia and controls underwent detailed clinical and neuropsychological assessment together with quantitative high-resolution structural MRI. Sera and CSF were subjected to comprehensive autoantibody screening by indirect immunofluorescence assay (IFA) and immunoblot. Immunoprecipitation with lysates of hippocampus and cerebellum combined with mass spectrometric analysis was used to identify the autoantigen, which was verified by recombinant expression in HEK293 cells and use in several immunoassays...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27956341/brainstem-and-cranial-nerve-disorders-of-ruminants
#15
REVIEW
Mélanie J Boileau, John Gilliam
Asymmetrical signs of brainstem disease occur relatively infrequently in ruminants. The most common differential diagnoses include listeriosis, otitis media/interna, and pituitary abscess syndrome. Although these conditions produce signs of brainstem dysfunction, the diseases can usually be differentiated based on historical findings and subtle clinical differences. Basic laboratory diagnostic tests are often not specific in the definitive diagnosis but may be supportive. Advanced imaging techniques have proven to be useful in the diagnosis of otitis media/interna...
December 9, 2016: Veterinary Clinics of North America. Food Animal Practice
https://www.readbyqxmd.com/read/27941975/novel-and-de-novo-mutations-extend-association-of-pou3f4-with-distinct-clinical-and-radiological-phenotype-of-hearing-loss
#16
Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H Skarżyński, Monika Ołdak, Rafał Płoski
POU3F4 mutations (DFNX2) are the most prevalent among non-syndromic X-linked hearing loss (HL) identified to date. Clinical manifestations of DFNX2 usually comprise congenital HL either sensorineural or mixed, a tendency towards perilymphatic gusher during otologic surgery and temporal bone malformations. The aim of the present study was to screen for POU3F4 mutations in a group of 30 subjects with a suggestive clinical phenotype as well as a group (N = 1671-2018) of unselected hearing loss patients. We also planned to analyze audiological and radiological features in patients with HL caused by POU3F4 defects...
2016: PloS One
https://www.readbyqxmd.com/read/27928415/bilateral-internuclear-ophthalmoplegia-as-a-presenting-manifestation-of-primary-sj%C3%A3-gren-s-syndrome
#17
K S Natsis, E Boura, O Kyriazis, A Iliadis, S-A Syntila, I Kostopoulos, T Afrantou
Bilateral internuclear ophthalmoplegia has been linked with various pathological conditions of the central nervous system (CNS), such as multiple sclerosis, stroke, tumours, and brainstem inflammatory processes. Herein the authors report a case of a 45-year-old female patient who presented with diplopia due to bilateral internuclear ophthalmoplegia, with no evidence of brainstem lesion in brain magnetic resonance imaging (MRI) and was diagnosed with primary Sjögren's syndrome.
October 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27927777/internuclear-ophthalmoplegia
#18
Jonathan D Virgo, Gordon T Plant
A brainstem lesion of any type that involves the medial longitudinal fasciculus (MLF) can cause internuclear ophthalmoplegia (INO). This primarily affects conjugate horizontal gaze and classically manifests as impaired adduction ipsilateral to the lesion and abduction nystagmus contralateral to the lesion. Here, we describe the anatomy of the MLF and review the clinical features of INO. We also describe conjugate horizontal gaze palsy and some of the 'INO-plus' syndromes.
December 7, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27904123/posterior-reversible-encephalopathy-syndrome-with-extensive-deep-white-matter-lesions-including-the-temporal-pole
#19
Junichiro Ohira, Nobuyuki Mori, Shunsuke Kajikawa, Takeshi Nakamura, Tetsuya Arisato, Makio Takahashi
Posterior reversible encephalopathy syndrome (PRES) typically affects the posterior subcortical white matter. We report the case of a 55-year-old man with atypical PRES, who had malignant hypertension and renal dysfunction. Magnetic resonance imaging of the brain revealed extensive vasogenic edema in the deep white matter including the temporal pole, as well as in the brainstem and cerebellum. Antihypertensive therapy and hemodialysis contributed to both clinical and radiological improvement. Involvement of the deep white matter including the temporal pole, which is rarely affected in an ischemic stroke, should be recognized as a potential sign of PRES...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27888275/acute-disseminated-encephalomyelitis-following-campylobacter-jejuni-gastroenteritis-case-report-and-review-of-the-literature
#20
Simone Marziali, Eliseo Picchi, Francesca Di Giuliano, Simone Altobelli, Giorgia Mataluni, Girolama Marfia, Francesco Garaci, Roberto Floris
We describe a case of a 25-year-old male with a diagnosis of acute disseminated encephalomyelitis (ADEM) following infection with Campylobacter jejuni, which is implicated in various human pathologies regarding the central nervous system (CNS) with acute course like Guillain-Barré syndrome (GBS), Miller-Fisher syndrome (MFS), Bickerstaff's brainstem encephalitis (BEE), acute transverse myelitis (ATM) as well as ADEM. These conditions are caused by cross-reactivity between Campylobacter's epitopes and cells of the CNS that causes an immunomediated inflammatory demyelination of the CNS...
November 25, 2016: Neuroradiology Journal
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