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https://www.readbyqxmd.com/read/28323148/results-of-combined-resection-recession-on-a-single-rectus-muscle-for-incomitant-deviations-an-alternative-to-the-faden-technique
#1
Gill Roper-Hall, Oscar A Cruz
PURPOSE: To compare outcomes of combined resection and recession on previously unoperated single horizontal or vertical rectus muscles in consecutive adult patients with acquired incomitant deviations minimal in primary gaze and maximal in an eccentric gaze position. METHODS: The surgical goal was to decrease the incomitance by 50%, expand the field of binocular single vision, and relieve diplopia. Recessions for the maximal deviations were combined with smaller resections using hang-back, nonadjustable sutures...
March 16, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28320840/k-channel-kv3-4-is-essential-for-axon-growth-by-limiting-the-influx-of-ca-2-into-growth-cones
#2
Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur
Membrane excitability in the axonal growth cones of embryonic neurons influences axon growth. Voltage-gated K(+) (Kv) channels are key factors in controlling membrane excitability, but whether they regulate axon growth remains unclear. Here, we report that Kv3.4 is expressed in the axonal growth cones of embryonic spinal commissural neurons, motoneurons, dorsal root ganglion neurons, retinal ganglion cells and callosal projection neurons during axon growth. Our in vitro (cultured dorsal spinal neurons of chick embryos) and in vivo (developing chick spinal commissural axons and rat callosal axons) findings demonstrate that knockdown of Kv3...
March 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28292832/functional-organization-of-vestibulo-ocular-responses-in-abducens-motoneurons
#3
Haike Dietrich, Stefan Glasauer, Hans Straka
Vestibulo-ocular reflexes (VOR) are the dominating contributors to gaze stabilization in all vertebrates. During horizontal head movements, abducens motoneurons form the final element of the reflex arc that integrates visuo-vestibular inputs into temporally precise motor commands for the lateral rectus eye muscle. Here, we studied a possible differentiation of abducens motoneurons into subtypes by evaluating their morphology, discharge properties and synaptic pharmacology in semi-intact in vitro preparations of larval Xenopus laevis Extracellular nerve recordings during sinusoidal head motion revealed a continuum of resting rates and activation thresholds during vestibular stimulation...
March 14, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#4
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
March 2, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28256434/pathologic-correlates-of-supranuclear-gaze-palsy-with-parkinsonism
#5
W R W Martin, J Hartlein, B A Racette, N Cairns, J S Perlmutter
INTRODUCTION: Supranuclear gaze palsy (SGP) is a classic clinical feature of progressive supranuclear palsy (PSP) but is not specific for this diagnosis and has been reported to occur in several other neurodegenerative parkinsonian conditions. Our objective was to evaluate the association between SGP and autopsy-proven diagnoses in a large population of patients with parkinsonism referred to a tertiary movement disorders clinic. METHODS: We reviewed clinical and autopsy data maintained in an electronic medical record from all patients seen in the Movement Disorders Clinic at Washington University, St...
February 24, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28254247/vertical-supranuclear-gaze-palsy-in-a-toddler-with-niemann-pick-type-c
#6
Tatiana Bremova, Michael Strupp
No abstract text is available yet for this article.
January 21, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28250456/biallelic-mutations-in-human-dcc-cause-developmental-split-brain-syndrome
#7
Saumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, Marie Drottar, Wai-Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N Lam, Mauricio R Delgado, Nancy J Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A Alorainy, Abdullah Abu Jamea, Khaled Abu-Amero, May Griebel, Wendy Ward, Ed S Lein, Kyriacos Markianos, A James Barkovich, Caroline D Robson, P Ellen Grant, Thomas M Bosley, Elizabeth C Engle, Christopher A Walsh, Timothy W Yu
Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor 'deleted in colorectal carcinoma' (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported...
February 27, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28247123/identification-of-characteristic-features-of-pineal-germinoma-that-enhance-accuracy-of-preoperative-differentiation-in-pineal-region-tumors-its-significance-on-optimum-surgical-treatment
#8
Akihiro Inoue, Takanori Ohnishi, Shohei Kohno, Shiro Ohue, Shinji Iwata, Shirabe Matsumoto, Masahiro Nishikawa, Saya Ozaki, Yosuke Mizuno, Riko Kitazawa, Takeharu Kunieda
The aim of the study is to identify characteristic features of pineal germinoma that enhance preoperative accuracy in differentiating germinoma from other pineal region tumors. Twenty-one consecutive patients with pineal region tumors were enrolled. In all patients, tumor resection was performed to verify the histology. Clinical records including upward gaze palsy of Parinaud's syndrome and neuroimaging were analyzed. In addition, we evaluated the relationship between magnetic resonance imaging (MRI) findings and tumor progression patterns in pineal germinoma...
March 1, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28196268/three-cases-of-exotropic-moebius-syndrome
#9
Abbas Bagheri, Mohaddese Feizi
Moebius syndrome is characterized by congenital facial palsy and limitation in horizontal gaze. The surgical results of the exotropic pattern are rare and have not been published before. The authors report three cases of exotropic Moebius syndrome. Maximal weakening of the lateral rectus muscles followed by strengthening of the medial recti in exotropic Moebius syndrome can improve exotropia significantly. Most of these cases also need some measures to relieve the often associated severe dry eye. [J Pediatr Ophthalmol Strabismus...
February 14, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28149099/bilateral-ptosis-without-upward-gaze-palsy-unusual-presentation-of-midbrain-tuberculoma
#10
Shatanik Sarkar, Chaitali Patra, Malay Kumar Dasgupta
Central nervous system tuberculoma can have variable presentations depending on the site and number of tuberculomas. We are reporting a rare case of an 11-year-old male child presenting with ptosis and ataxia. Clinical examination revealed bilateral partial 3(rd) cranial nerve palsy (ptosis without any upward gaze palsy) associated with dysdiadochokinesia and ataxia on the right side. Magnetic resonance imaging of the brain revealed a single ring-enhancing lesion in the dorsal midbrain with perifocal edema...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28137897/blood-brain-and-binocular-vision
#11
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/28132975/a-case-of-neuromyelitis-optica-spectrum-disorder-nmosd-with-sj%C3%A3-gren-s-syndrome-manifested-only-brain-involvement-by-preceding-parotitis
#12
Takahiro Furukawa, Naoko Matsui, Keiko Tanaka, Yuishin Izumi, Ryuji Kaji
A 33 year-old woman presented with intentional incontinence, motor aphasia, supranuclear gaze palsy, and spasticity after parotitis. Brain magnetic resonance images (MRI) showed abnormal signaling in long corticospinal tract involving internal capsules and cerebral peduncles, middle cerebellar peduncle, and frontal subcortical white matter lesions. She had a long history of dry eye and mouth. Immunoserological study showed that she was positive for anti-SS-A, aquaporin 4 (AQP4), and AQP5 antibodies. She clinically showed not only Sjögren's syndrome but also neuromyelitis optica spectrum disorder (NMOSD) without optic neuritis or myelitis...
February 25, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28092393/surgical-treatment-of-adult-onset-esotropia-characteristics-and-outcomes
#13
Sara F Grace, Kara M Cavuoto, Wei Shi, Hilda Capo
PURPOSE: To describe the characteristics of the strabismus, surgical management, and outcomes of patients who underwent surgery for adult-onset esotropia. METHODS: This was a retrospective case study of patients at an academic tertiary referral center who underwent surgical treatment of esotropia acquired at or after age 18 years. Primary outcome measures were resolution of diplopia in primary position and a deviation of 10 prism diopters or less in primary gaze...
January 13, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28057431/advanced-structural-neuroimaging-in-progressive-supranuclear-palsy-where-do-we-stand
#14
REVIEW
Albert Stezin, Abhishek Lenka, Ketan Jhunjhunwala, Jitender Saini, Pramod K Pal
Progressive supranuclear palsy (PSP) is a progressive neurological disorder characterized by presence of supranuclear gaze palsy, early postural instability, parkinsonism and cognitive impairment. Advanced structural neuroimaging studies have demonstrated variable areas of grey and white matter involvement in PSP. Grey matter (GM) involvement is predominantly reported in the midbrain, subcortical structures such as thalamus and basal ganglia, and cerebellum. Most white matter (WM) tracts are also reported to be damaged in PSP...
March 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28043958/fluctuating-drowsiness-following-cardiac-catheterisation-artery-of-percheron-ischaemic-stroke-causing-bilateral-thalamic-infarcts
#15
Daniel Hammersley, Ankur Arora, Madhava Dissanayake, Nabarun Sengupta
An 81-year-old man underwent cardiac catheterisation to investigate breathlessness and left ventricular impairment of unknown cause. He had unobstructed coronary arteries. Immediately following the procedure, he became suddenly unresponsive with vertical gaze palsy, anisocoria and bilateral upgoing plantar responses. He made a rapid recovery to his premorbid state 25 min later with no residual focal neurological signs. He then had multiple unresponsive episodes, interspaced with complete resolution of symptoms and neurological signs...
January 2, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28024310/horizontal-gaze-palsy-in-two-brothers-with-compound-heterozygous-robo3-gene-mutations
#16
Annette Hackenberg, Eugen Boltshauser, Christina Gerth-Kahlert, Nikolai Stahr, Silvia Azzarello-Burri, Barbara Plecko
No abstract text is available yet for this article.
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28003644/norrbottnian-clinical-variant-of-gaucher-disease-in-southern-italy
#17
Simona Sestito, Mirella Filocamo, Ferdinando Ceravolo, Francesca Falvo, Michele Grisolia, Maria Teresa Moricca, Renato Cantaffa, Serena Grossi, Pietro Strisciuglio, Daniela Concolino
The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. In particular, Norrbottnian patients described in Sweden and Poland seem to share identical clinical histories characterized by the early onset of significant hepatosplenomegaly, often requiring splenectomy at an early age...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27974341/vertical-muscle-transposition-with-silicone-band-belting-in-vi-nerve-palsy
#18
Ricardo Dourado Leite, Cristina Freitas, Sandra Guimaraes
A woman aged 60 years developed a Millard-Gubler syndrome after a diagnosis of a cavernous angioma in the median and paramedian areas of the pons. In this context, she presented a right VI nerve palsy, right conjugate gaze palsy, facial palsy and left hemiparesis. To improve the complete VI nerve palsy, we planned a modified transposition approach, in which procedure we made a partial transposition of vertical rectus with a silicone band that was fixated posteriorly. After the procedure, the patient gained the ability to slightly abduct the right eye...
December 14, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27928380/facial-dystonia-with-facial-grimacing-and-vertical-gaze-palsy-with-round-the-houses-sign-in-a-29-year-old-woman
#19
J Crespi, G Bråthen, P Quist-Paulsen, J Pagonabarraga, C Roig-Arnall
A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27927777/internuclear-ophthalmoplegia
#20
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.
April 2017: Practical Neurology
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