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https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#1
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28439957/prognostic-indicators-in-pediatric-clinically-isolated-syndrome
#2
Pietro Iaffaldano, Marta Simone, Giuseppe Lucisano, Angelo Ghezzi, Gabriella Coniglio, Vincenzo Brescia Morra, Giuseppe Salemi, Francesco Patti, Alessandra Lugaresi, Guillermo Izquierdo, Roberto Bergamaschi, Jose Antonio Cabrera-Gomez, Carlo Pozzilli, Enrico Millefiorini, Raed Alroughani, Cavit Boz, Eugenio Pucci, Giovanni Bosco Zimatore, Patrizia Sola, Giacomo Lus, Davide Maimone, Carlo Avolio, Eleonora Cocco, Seyed Aidin Sajedi, Gianfranco Costantino, Pierre Duquette, Vahid Shaygannejad, Thor Petersen, Ricardo Fernández Bolaños, Damiano Paolicelli, Carla Tortorella, Tim Spelman, Lucia Margari, Maria Pia Amato, Giancarlo Comi, Helmut Butzkueven, Maria Trojano
OBJECTIVE: To assess prognostic factors for a second clinical attack and a first disability worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of Multiple Sclerosis (MS) patients. METHODS: A cohort of 770 pCIS patients was followed-up for at least 10 years. Cox proportional hazard models and RECursive Partitioning and AMalgamation (RECPAM) tree-regression were used to analyze data. RESULTS: In pCIS, female sex and a multifocal onset were risk factors for a second clinical attack (HR, 95% CI: 1...
April 25, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28433974/hypoactive-hypoalert-behaviour-and-thalamic-hypometabolism-due-to-intracranial-hypotension
#3
Seamus Kearney, Peter Flynn, Simon Hughes, Wendy Spence, Mark Owen McCarron
A 47-year-old man presented with a 9-year history of a hypoalert hypoactive behaviour syndrome, caused by the deep brain swelling variant of spontaneous intracranial hypotension. Along with apathy with retained cognition, he had stable ataxia, impaired upgaze and episodes of central apnoea. MRI brain showed a sagging brainstem, pointed ventricles and reduced angle between the vein of Galen and the straight sinus, but no meningeal enhancement or subdural collections. A dopamine transporter scan showed preganglionic dopamine receptor deficiency; a fluorodeoxy glucose positron emission tomography scan showed bilateral hypothalamic hypometabolism...
April 22, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28410279/ocular-motor-manifestations-of-multiple-sclerosis
#4
Elodie Nerrant, Caroline Tilikete
BACKGROUND: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system leading to disability, especially in young patients. Acute or chronic lesions of MS within the brainstem and the cerebellum frequently result in ocular motor disorders. EVIDENCE ACQUISITION: This review encompasses the spectrum of ocular motor disorders in patients with MS emphasizing prevalence, examination findings, diagnostic features, functional consequences, classification of MS course, and management of these disturbances of ocular motility...
April 13, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28402528/macrovascular-decompression-of-the-brainstem-and-cranial-nerves-evolution-of-an-anteromedial-vertebrobasilar-artery-transposition-technique
#5
Omar Choudhri, Ian D Connolly, Michael T Lawton
BACKGROUND: Tortuous and dolichoectatic vertebrobasilar arteries can impinge on the brainstem and cranial nerves to cause compression syndromes. Transposition techniques are often required to decompress the brainstem with dolichoectatic pathology. We describe our evolution of an anteromedial transposition technique and its efficacy in decompressing the brainstem and relieving symptoms. OBJECTIVE: To present the anteromedial vertebrobasilar artery transposition technique for macrovascular decompression of the brainstem and cranial nerves...
April 11, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28392470/pituitary-adenylate-cyclase-activating-polypeptide-pacap-and-its-receptor-1-pac1-in-the-human-infant-brain-and-changes-in-the-sudden-infant-death-syndrome-sids
#6
J Huang, K A Waters, R Machaalani
Pituitary adenylate cyclase activating polypeptide (PACAP) and its complementary receptor, PAC1, are crucial in central respiratory control. PACAP Knockout (KO) mice exhibit a SIDS-like phenotype, with an inability to overcome noxious insults, compression of baseline ventilation, and death in the early post-neonatal period. PAC1 KO demonstrate similar attributes to PACAP-null mice, but with the addition of increased pulmonary artery pressure, consequently leading to heart failure and death. This study establishes a detailed interpretation of the neuroanatomical distribution and localization of both PACAP and PAC1 in the human infant brainstem and hippocampus, to determine whether any changes in expression are evident in infants who died of Sudden Infant Death Syndrome (SIDS) and any relationships to risk factors of SIDS including smoke exposure and sleep related parameters...
April 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28391068/abnormal-trajectories-in-cerebellum-and-brainstem-volumes-in-carriers-of-the-fragile-x-premutation
#7
Jun Yi Wang, David Hessl, Randi J Hagerman, Tony J Simon, Flora Tassone, Emilio Ferrer, Susan M Rivera
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain...
March 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28351484/hypocapnic-hypothesis-of-leigh-disease
#8
Ewa Pronicka
Leigh syndrome (LS) is a neurogenetic disorder of children caused by mutations in at least 75 genes which impair mitochondrial bioenergetics. The changes have typical localization in basal ganglia and brainstem, and typical histological picture of spongiform appearance, vascular proliferation and gliosis. ATP deprivation, free radicals and lactate accumulation are suspected to be the causes. Hypocapnic hypothesis proposed in the paper questions the energy deprivation as the mechanism of LS. We assume that the primary harmful factor is hypocapnia (decrease in pCO2) and respiratory alkalosis (increase in pH) due to hyperventilation, permanent or in response to stress...
April 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28342959/early-lance-adams-syndrome-after-cardiac-arrest-prevalence-time-to-return-to-awareness-and-outcome-in-a-large-cohort
#9
Irene Aicua Rapun, Jan Novy, Daria Solari, Mauro Oddo, Andrea O Rossetti
INTRODUCTION: Early myoclonus after cardiac arrest (CA) is traditionally viewed as a poor prognostic sign (status myoclonus). However, some patients may present early Lance-Adams syndrome (LAS): under appropriate treatment, they can reach a satisfactory functional outcome. Our aim was to describe their profile, focusing on pharmacologic management in the ICU, time to return of awareness, and long-term prognosis. METHODS: Adults with early LAS (defined as generalized myoclonus within 96h, with epileptiform EEG within 48h after CA) were retrospectively identified in our CA registry between 2006 and 2016...
March 22, 2017: Resuscitation
https://www.readbyqxmd.com/read/28341199/quantitative-magnetic-resonance-diffusion-weighted-imaging-evaluation-of-the-supratentorial-brain-regions-in-patients-diagnosed-with-brainstem-variant-of-posterior-reversible-encephalopathy-syndrome-a-preliminary-study
#10
Tai-Yuan Chen, Te-Chang Wu, Ching-Chung Ko, I-Jung Feng, Yu-Kun Tsui, Chien-Jen Lin, Jeon-Hor Chen, Ching-Po Lin
BACKGROUND AND PURPOSE: Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity with several causes, characterized by rapid onset of symptoms and typical neuroimaging features, which usually resolve if promptly recognized and treated. Brainstem variant of PRES presents with vasogenic edema in brainstem regions on magnetic resonance (MR) images and there is sparing of the supratentorial regions. Because PRES is usually caused by a hypertensive crisis, which would likely have a systemic effect and global manifestations on the brain tissue, we thus proposed that some microscopic abnormalities of the supratentorial regions could be detected with diffusion-weighted imaging (DWI) using apparent diffusion coefficient (ADC) analysis in brainstem variant of PRES and hypothesized that "normal-looking" supratentorial regions will increase water diffusion...
March 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28337694/the-posterior-fossa-and-foreign-accent-syndrome-report-of-two-new-cases-and-review-of-the-literature
#11
Stefanie Keulen, Peter Mariën, Kim van Dun, Roelien Bastiaanse, Mario Manto, Jo Verhoeven
Foreign accent syndrome is a rare motor speech disorder that causes patients to speak their language with a non-native accent. In the neurogenic condition, the disorder develops after lesions in the language dominant hemisphere, often affecting Broca's area, the insula, the supplementary motor area and the primary motor cortex. Here, we present two new cases of FAS after posterior fossa lesions. The first case is a 44-year-old, right-handed, Dutch-speaking man who suffered motor speech disturbances and a left hemiplegia after a pontine infarction...
March 23, 2017: Cerebellum
https://www.readbyqxmd.com/read/28337123/analysis-of-the-serotonergic-system-in-a-mouse-model-of-rett-syndrome-reveals-unusual-upregulation-of-serotonin-receptor-5b
#12
Steffen Vogelgesang, Sabine Niebert, Ute Renner, Wiebke Möbius, Swen Hülsmann, Till Manzke, Marcus Niebert
Mutations in the transcription factor methyl-CpG-binding-protein 2 (MeCP2) cause a delayed-onset neurodevelopmental disorder known as Rett syndrome (RTT). Although alteration in serotonin levels have been reported in RTT patients, the molecular mechanisms underlying these defects are not well understood. Therefore, we chose to investigate the serotonergic system in hippocampus and brainstem of male Mecp2(-/y) knock-out mice in the B6.129P2(C)-Mecp2(tm1.1Bird) mouse model of RTT. The serotonergic system in mouse is comprised of 16 genes, whose mRNA expression profile was analyzed by quantitative RT-PCR...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28334875/white-matter-changes-in-paediatric-multiple-sclerosis-and-monophasic-demyelinating-disorders
#13
Giulia Longoni, Robert A Brown, Parya MomayyezSiahkal, Colm Elliott, Sridar Narayanan, Amit Bar-Or, Ruth Ann Marrie, E Ann Yeh, Massimo Filippi, Brenda Banwell, Douglas L Arnold
Most children who experience an acquired demyelinating syndrome of the central nervous system will have a monophasic disease course, with no further clinical or radiological symptoms. A subset will be diagnosed with multiple sclerosis, a life-long disorder. Using linear mixed effects models we examined longitudinal diffusion properties of normal-appearing white matter in 505 serial scans of 132 paediatric participants with acquired demyelinating syndromes followed for a median of 4.4 years, many from first clinical presentation, and 106 scans of 80 healthy paediatric participants...
March 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28330972/fatal-cerebral-edema-with-status-epilepticus-in-children-with-dravet-syndrome-report-of-5-cases
#14
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
March 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28324264/reverse-locked-in-syndrome
#15
Pooja Raibagkar, Ram V Chavali, Tamara B Kaplan, Jennifer A Kim, Meaghan V Nitka, Sherry H-Y Chou, Brian L Edlow
BACKGROUND: Basilar artery occlusion can cause locked-in syndrome, which is characterized by quadriplegia, anarthria, and limited communication via eye movements. Here, we describe an uncommon stroke syndrome associated with endovascular recanalization of the top of the basilar artery: "reverse locked-in syndrome." METHODS: We report the case of a patient with atypical neurological deficits caused by acute ischemic stroke of the midbrain tegmentum. We perform neuroanatomic localization of the patient's infarcts by mapping the magnetic resonance imaging (MRI) data onto a brainstem atlas...
March 21, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28318543/obesity-induced-neuroinflammation-beyond-the-hypothalamus
#16
REVIEW
Owein Guillemot-Legris, Giulio G Muccioli
Obesity is now a worldwide health issue. Far from being limited to weight gain, obesity is generally associated with low-grade inflammation and with a cluster of disorders collectively known as the 'metabolic syndrome'. When considering obesity and the subsequent neuroinflammation, the focus was long set on the hypothalamus. More recently, obesity-derived neuroinflammation has been shown to affect other brain structures such as the hippocampus, cortex, brainstem, or amygdala. Furthermore, obesity has been associated with increased occurrence of central disorders such as depression and impaired cognitive function...
March 16, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28318060/integrating-postural-and-vestibular-dimensions-to-depict-impairment-in-moderate-to-severe-obstructive-sleep-apnea-syndrome-patients
#17
Alessandro Micarelli, Claudio Liguori, Andrea Viziano, Francesca Izzi, Fabio Placidi, Marco Alessandrini
Vestibular dysfunction was linked to moderate-to-severe obstructive sleep apnea syndrome (OSAS) patients in literature. However, due to a lack of knowledge among valid and recent implementations conceived to study postural control on static posturography (SP) and vestibulo-ocular reflex (VOR) gain under physiological conditions (video Head Impulse Test; vHIT), the aim of this work was to integrate (i) VOR changes via vHIT implementation, (ii) postural arrangement by studying both classical parameters and frequency spectra (PS) and (iii) correlation between these findings, polygraphic (PG) and subjective scores along Dizziness Handicap Inventory (DHI) and Epworth Sleepiness Scale (ESS)...
March 20, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28314977/isolated-vestibular-syndromes-due-to-brainstem-and-cerebellar-lesions
#18
Sung-Hee Kim, Hyo Jung Kim, Ji-Soo Kim
Dizziness/vertigo is the most common symptoms of posterior circulation strokes. Isolated vestibular symptoms and signs without other neurologic deficits have been found in infarctions involving the brainstem and cerebellum. In the brainstem, infarctions responsible for isolated vestibular syndrome are usually restricted to the dorsal portion that contains the vestibular nucleus and the nucleus prepositus hypoglossi. Cerebellar lesions confined to the flocculus, tonsil, and nodulus also produce isolated vertigo and imbalance...
March 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28283819/neurological-complications-of-beh%C3%A3-et-s-syndrome
#19
D P Kidd
In this review of the neurological complications of Behçet's syndrome, the clinical features and epidemiology of the systemic disease are summarised before a discussion of the neurological syndromes which may develop is made. Neurological involvement occurs in 9% of cases, and is equally prevalent in each geographical area. Vascular complications occur in 14%, in whom thrombosis of the venous sinuses or cerebral veins occurs, and intracranial hypertension, venous infarction and parenchymal haemorrhage may develop...
March 10, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28275351/botulinum-toxin-is-effective-in-the-management-of-neurogenic-dysphagia-clinical-electrophysiological-findings-and-tips-on-safety-in-different-neurological-disorders
#20
Enrico Alfonsi, Domenico A Restivo, Giuseppe Cosentino, Roberto De Icco, Giulia Bertino, Antonio Schindler, Massimiliano Todisco, Mauro Fresia, Andrea Cortese, Paolo Prunetti, Matteo C Ramusino, Arrigo Moglia, Giorgio Sandrini, Cristina Tassorelli
Background and Aims: Neurogenic dysphagia linked to failed relaxation of the upper esophageal sphincter (UES) can be treated by injecting botulinum toxin (BTX) into the cricopharyngeal (CP) muscle. We compared the effects of this treatment in different neurological disorders with dysphagia, to evaluate its efficacy over time including the response to a second injection. Materials and Methods: Sixty-seven patients with neurogenic dysphagia associated with incomplete or absent opening of the UES (24 with brainstem or hemispheric stroke, 21 with parkinsonian syndromes, 12 with multiple sclerosis, and 10 with spastic-dystonic syndromes secondary to post-traumatic encephalopathy) were treated with the injection of IncobotulinumtoxinA (dose 15-20 U) into the CP muscle under electromyographic guidance...
2017: Frontiers in Pharmacology
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