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https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#1
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28637445/cerebellar-mutism-syndrome-in-children-with-brain-tumours-of-the-posterior-fossa
#2
Morten Wibroe, Johan Cappelen, Charlotte Castor, Niels Clausen, Pernilla Grillner, Thora Gudrunardottir, Ramneek Gupta, Bengt Gustavsson, Mats Heyman, Stefan Holm, Atte Karppinen, Camilla Klausen, Tuula Lönnqvist, René Mathiasen, Pelle Nilsson, Karsten Nysom, Karin Persson, Olof Rask, Kjeld Schmiegelow, Astrid Sehested, Harald Thomassen, Ingrid Tonning-Olsson, Barbara Zetterqvist, Marianne Juhler
BACKGROUND: Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28623115/association-of-cerebral-venous-thrombosis-and-intracranial-hypotension-review-of-3-cases
#3
Leen Sinnaeve, Ludo Vanopdenbosch, Koen Paemeleire
Cerebral venous thrombosis is a rare complication of intracranial hypotension. We describe 3 cases in which this phenomenon occurred, as a result of a lumbar puncture or due to a spontaneous cerebrospinal fluid leak. We emphasize the importance of early detection of the intracranial hypotension syndrome, the most common clinical manifestation being orthostatic headache. It is not an innocent condition as it is associated with other potential complications such as subdural hygroma/hematoma, cranial nerve palsies, cerebellar tonsillar descent, and even brainstem manifestations...
June 13, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28620564/moyamoya-syndrome-in-a-child-with-neurofibromatosis-type-1-magnetic-resonance-imaging-as-a-tool-for-clinical-decision-making
#4
Jonathan Mayl, Hanisha Patel, Tushar Chandra
Moyamoya syndrome is a rare cerebrovasculopathy of unknown etiology which is associated with multiple risk factors. Moyamoya was first discovered in Japan and is reported to have an increased prevalence in the Japanese population. The term "Moyamoya" translates into "puff of smoke" and is named after the finding of the collateral cerebral vasculature that develops secondary to occlusion of an internal carotid artery at the entrance into the circle of Willis. This collateral vasculature characterizes the disease...
May 9, 2017: Curēus
https://www.readbyqxmd.com/read/28607824/electrocochleography-summating-potential-seen-on-auditory-brainstem-response-in-a-case-of-superior-semicircular-canal-dehiscence
#5
Bryan K Ward, Angela Wenzel, Eva K Ritzl, John P Carey
BACKGROUND: Superior canal dehiscence syndrome (SCDS) is a condition in which an abnormal communication between the superior semicircular canal and the middle cranial fossa causes patients to hear internal noises transmitted loudly to their affected ear as well as to experience vertigo with pressure changes or loud sounds. Patients with SCDS can have an elevated ratio of summating potential (SP) to action potential (AP) as measured by electrocochleography (ECochG). Changes in this ratio have been observed during surgical intervention to correct this abnormal communication...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28576520/clinical-characterization-of-novel-chromosome-22q13-microdeletions
#6
Jennifer F Ha, Ayesha Ahmad, Marci M Lesperance
INTRODUCTION: The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS). OBJECTIVE: We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28573831/auditory-and-otologic-profile-of-alstr%C3%A3-m-syndrome-comprehensive-single-center-data-on-38-patients
#7
Spencer Lindsey, Carmen Brewer, Olga Stakhovskaya, Hung Jeffrey Kim, Chris Zalewski, Joy Bryant, Kelly A King, Jürgen K Naggert, William A Gahl, Jan D Marshall, Meral Gunay-Aygun
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed AS. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7...
June 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28571231/central-variant-of-posterior-reversible-encephalopathy-syndrome-a-rare-case-report
#8
K G Srinivasan, Padhmini Balasubramanian, K R Mayilvaganan, Usha Nandhini Kannan, Mohamed Bilal
Posterior Reversible Encephalopathy Syndrome (PRES) is a clinicoradiological condition associated with headache, altered mental status, dizziness and white matter vasogenic oedema in parieto-occipital region. It is often associated with hypertension but can also occur in diverse clinical settings like immunosuppression, eclampsia, etc. It is due to failure of autoregulatory mechanism of posterior circulation in response to change in blood pressure. We hereby report a rare case of central variant of PRES secondary to severe hypertension diagnosed with 3T MRI...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28568647/standardized-passiflora-incarnata-l-extract-reverts-the-analgesia-induced-by-alcohol-withdrawal-in-rats
#9
Rebeca Vargas Antunes Schunck, Isabel Cristina Macedo, Gabriela Laste, Andressa de Souza, Marina Tuerlinckx Costa Valle, Janaína L O Salomón, Ellen Almeida Nunes, Andreia Cristina Wildner Campos, Simone Cristina Baggio Gnoatto, Ana Maria Bergold, Eduardo L Konrath, Eliane Dallegrave, Marcelo Dutra Arbo, Iraci L S Torres, Mirna Bainy Leal
Passiflora incarnata L. (Passifloraceae) has been traditionally used for treatment of anxiety, insomnia, drug addiction, mild infections, and pain. The aim of this study was to investigate the effect of a commercial extract of P. incarnata in the analgesia induced by alcohol withdrawal syndrome in rats. In addition, brain-derived neurotrophic factor and interleukin-10 levels were evaluated in prefrontal cortex, brainstem, and hippocampus. Male adult rats received by oral gavage: (1: water group) water for 19 days, 1 day interval and water (8 days); (2: P...
June 1, 2017: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/28567500/treatment-of-sleep-dysfunction-in-parkinson-s-disease
#10
REVIEW
Amy W Amara, Lana M Chahine, Aleksandar Videnovic
Impaired sleep and alertness affect the majority of Parkinson's disease (PD) patients, negatively impacting safety and quality of life. The etiology of impaired sleep-wake cycle in PD is multifactorial and encompasses medication side effects, nocturnal PD motor symptoms, and presence of co-existent sleep and neuropsychiatric disorders. The primary neurodegenerative process of PD involves brain regions that regulate the sleep-wake cycle, such as brainstem and hypothalamic nuclei. Sleep disorders in PD include insomnia, REM sleep behavior disorder (RBD), sleep disordered breathing (SDB), restless legs syndrome (RLS), and circadian disruption...
July 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28567027/transient-vestibulopathy-in-wallenberg-s-syndrome-pathologic-analysis
#11
Jorge C Kattah, Ali S Saber Tehrani, Sigrun Roeber, Meena Gujrati, Sarah E Bach, David E Newman Toker, Ari M Blitz, Anja K E Horn
OBJECTIVE: To report an unusual lateral medullary stroke (LMS) associated with transient unidirectional horizontal, nystagmus, and decreased horizontal vestibulo-ocular reflex (h-VOR) gain that mimicked a peripheral vestibulopathy. MRI suggested involvement of caudal medial vestibular nucleus (MVN); however, the rapid resolution of the nystagmus and improved h-VOR gain favored transient ischemia without infarction. Decreased h-VOR gain is expected with peripheral vestibular lesions within the labyrinth or superior vestibular nerve; less frequently lateral pontine strokes involving the vestibular root entry, the vestibular fascicle, or neurons within the MVN may be responsible...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28555459/-reversible-posterior-leukoencephalopathy-syndrome-with-isolated-involvement-of-the-brainstem-and-spinal-cord
#12
A Pappolla, M C Zurru-Ganen, S G Pigretti, N R Balian, H Michelangelo, E Cristiano
No abstract text is available yet for this article.
June 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28555189/trigeminal-nerve-root-demyelination-not-seen-in-six-horses-diagnosed-with-trigeminal-mediated-headshaking
#13
Veronica L Roberts, Debra Fews, Jennifer M McNamara, Seth Love
Trigeminal-mediated headshaking is an idiopathic neuropathic facial pain syndrome in horses. There are clinical similarities to trigeminal neuralgia, a neuropathic facial pain syndrome in man, which is usually caused by demyelination of trigeminal sensory fibers within either the nerve root or, less commonly, the brainstem. Our hypothesis was that the neuropathological substrate of headshaking in horses is similar to that of trigeminal neuralgia in man. Trigeminal nerves, nerve roots, ganglia, infraorbital, and caudal nasal nerves from horse abattoir specimens and from horses euthanized due to trigeminal-mediated headshaking were removed, fixed, and processed for histological assessment by a veterinary pathologist and a neuropathologist with particular experience of trigeminal neuralgia histology...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/28551039/clinical-features-in-very-early-onset-demyelinating-disease-with-anti-mog-antibody
#14
Masahiro Nishiyama, Hiroaki Nagase, Masaaki Matsumoto, Kazumi Tomioka, Hiroyuki Awano, Tsukasa Tanaka, Daisaku Toyoshima, Kyoko Fujita, Azusa Maruyama, Yoshinobu Oyazato, Keisuke Saeki, Kazuhiro Shiraishi, Satoshi Takada, Kimihiko Kaneko, Toshiyuki Takahashi, Ichiro Nakashima, Kazumoto Iijima
BACKGROUND: The clinical features of patients with very early-onset acquired demyelinating syndrome (ADS) with the anti-myelin oligodendrocyte glycoprotein (MOG) antibody are unknown. We investigated the clinical characteristics and described detailed treatment of weekly intramuscular interferon β-1a (IFNβ-1a) in children aged <4years with ADS and the anti-MOG antibody. METHODS: We conducted a retrospective chart review of patients with anti-MOG positivity who were diagnosed as having multiple sclerosis (MS) at <4years of age...
May 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28550263/microglial-and-neuronal-tdp-43-pathology-in-anti-iglon5-related-tauopathy
#15
Annachiara Cagnin, Sara Mariotto, Michele Fiorini, Marina Gaule, Nicola Bonetto, Matteo Tagliapietra, Emanuele Buratti, Gianluigi Zanusso, Sergio Ferrari, Salvatore Monaco
A novel neuronal tauopathy, mainly confined to hypothalamus and brainstem tegmentum, has recently been reported in patients with autoantibodies to the neuronal cell-adhesion molecule IgLON5. We describe a patient with anti-IgLON5 syndrome, who presented with dysautonomia and sleep disorder, followed by subacute dementia. Postmortem brain examination disclosed neuronal tau pathology prevailing in the hippocampus, amygdala, and locus coeruleus, in addition to microglial/neuronal TDP-43 pathology, with overexpression of aberrantly phosphorylated forms and neurotoxic truncated fragments, in basal ganglia, nucleus basalis, thalamus, and midbrain...
May 26, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28547518/life-threatening-posterior-reversible-encephalopathy-syndrome-in-the-cerebellum-treated-by-posterior-fossa-decompression
#16
Yousef Abusabha, Athanasios K Petridis, Bastian Kraus, Marcel A Kamp, Hans-Jakob Steiger, Kerim Beseoglu
Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological syndrome associated with various clinical conditions, such as headache, encephalopathy, and seizures. It is reversible if a prompt diagnosis is made and treatment undertaken. We report a 52-year-old male with hypertensive crisis. Progressing somnolence and an unresponsive left pupil occurred. MRI revealed an intra-axial hyperintensity of the cerebellum and brainstem and occlusive hydrocephalus suggestive of encephalitis or a tumor...
July 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28537687/the-effect-of-optimizing-eabr-parameters-in-artificial-cochlear-implantation-for-auditory-rehabilitation
#17
H-L Yang, Z Liu
OBJECTIVE: The objective of the present study was to observe the relationship between V extraction rate and threshold value of electrically evoked auditory brainstem response (EABR) waves in artificial cochlear implantation, in order to optimize EABR parameters for improving auditory rehabilitation. PATIENTS AND METHODS: Thirty patients without residual hearing and treated with artificial cochlear implants were selected. The experimental group included 17 cases with normal cochlear morphology, four with large vestibular aqueduct syndrome (LVAS), six with Mondini malformation, and three with internal auditory canal stenosis...
May 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28527054/understanding-migraine-as-a-cycling-brain-syndrome-reviewing-the-evidence-from-functional-imaging
#18
Arne May
Due to the clinical picture and also based on early imaging data (Weiller et al. Nat Med 1:658-660, 1995), the brainstem and midbrain structures have been intensely discussed as possible driving or generating structures in migraine. The fact that the brainstem activation persisted after treatment makes it unlikely that this activation was only due to increased activity of the endogenous anti-nociceptive system. It was consequently (and somewhat simplifying) coined the "migraine generator". Since then several studies have focussed on this region when investigating episodic, but also chronic migraine...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28514704/guillain-barr%C3%A3-syndrome-variants-forms-fruste-reclassification-with-new-criteria
#19
Fu Liong Hiew, Rahmansah Ramlan, Shanthi Viswanathan, Santhi Puvanarajah
OBJECTIVES: This study aimed to evaluate the clinical and electrophysiological characteristics of various distinctive classical and localised Guillain-Barré syndrome (GBS) subtypes. PATIENTS AND METHODS: Clinical characteristics and electrophysiological data of sixty-one consecutive patients admitted between 2012 and 2015 were systematically analysed and reclassified according to the new GBS clinical classification. Neurophysiology was evaluated with Hadden et al...
July 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28506824/hypoxia-and-nicotine-effects-on-pituitary-adenylate-cyclase-activating-polypeptide-pacap-and-its-receptor-1-pac1-in-the-developing-piglet-brainstem
#20
J Huang, K A Waters, R Machaalani
Pituitary adenylate cyclase activating polypeptide (PACAP) and its cognate receptor 1 (PAC1), have been implicated in the pathophysiology of the Sudden Infant Death Syndrome (SIDS). Two main risk factors for SIDS are prone sleeping and cigarette smoke exposure. Using piglet models of these risk factors, intermittent hypercapnic hypoxia (IHH-mimicking rebreathing in prone position) and nicotine (main reinforcing element of cigarettes), this study aimed to determine their effects on PACAP and PAC1 protein expression in the medulla...
May 12, 2017: Neurotoxicology
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