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https://www.readbyqxmd.com/read/27927777/internuclear-ophthalmoplegia
#1
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/27926585/fluctuating-vestibulo-ocular-reflex-in-m%C3%A3-ni%C3%A3-re-s-disease
#2
Dario A Yacovino, Timothy C Hain, Maria Musazzi
OBJECTIVES: To describe the fluctuating high velocity vestibular ocular-reflex (VOR) during the Ménière's attacks and correlate those features with pathophysiology. PATIENTS: A patient with unilateral Ménière's disease (MD) was evaluated closely during and after acute vertigo episodes. MAIN OUTCOME MEASURES: The spontaneous nystagmus and the dynamic VOR changes were measured by the video head impulse test (VHIT) at different stages of the vertigo crisis and during the quiescent phase of the condition...
December 6, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27915581/ftld-tdp-and-progressive-supranuclear-palsy-in-comorbidity-a-report-of-two-cases-with-different-clinical-presentations
#3
Kateřina Storey, Silvie Johanidesová, Radoslav Matěj, Jiří Keller, Zdeněk Rohan, Robert Rusina
Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices...
December 3, 2016: Neurocase
https://www.readbyqxmd.com/read/27908616/spinocerebellar-ataxia-15-a-phenotypic-review-and-expansion
#4
REVIEW
Philip W Tipton, Kimberly Guthrie, Audrey Strongosky, Ronald Reimer, Zbigniew K Wszolek
Spinocerebellar ataxia 15 (SCA15) is a clinically heterogeneous movement disorder characterized by the adult onset of slowly progressive cerebellar ataxia. ITPR1 is the SCA15 causative gene. However, despite numerous reports of genetically-confirmed SCA15, phenotypic uncertainty persists. We reviewed the phenotypes of 60 patients for whom SCA15 was confirmed by the presence of a genetic deletion involving ITPR1. The most prevalent symptoms were gait ataxia (88.3%), dysarthria (75.0%), nystagmus (73.3%), and limb ataxia (71...
November 10, 2016: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/27897129/a-pilot-study-using-intratympanic-methylprednisolone-for-treatment-of-persistent-posterior-canal-benign-paroxysmal-positional-vertigo
#5
Paz Pérez, Virginia Franco, Manuel Oliva, José A López Escámez
OBJECTIVE: To assess the effect of intratympanic methylprednisolone (ITMP) in posterior canal benign paroxysmal positional vertigo (BPPV) that fails treatment involving repositioning maneuver in a case series. MATERIALS AND METHODS: Nine patients with persistent posterior canal BPPV after 6 or more repositioning maneuvers were treated by ITMP (two weekly doses of 0.3-0.4 mL at 40 mg/mL) before repeating the repositioning procedures. RESULTS: Following ITMP treatment, 7 out of 9 patients were relieved of their symptoms and did not exhibit positional nystagmus after 1 or 2 repositioning maneuvers...
November 28, 2016: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/27896899/characterization-of-a-novel-form-of-progressive-retinal-atrophy-in-whippet-dogs-a-clinical-electroretinographic-and-breeding-study
#6
André Tavares Somma, Juan Carlos Duque Moreno, Mario Teruo Sato, Blanche Dreher Rodrigues, Marianna Bacellar-Galdino, Laurence Mireille Occelli, Simon Michael Petersen-Jones, Fabiano Montiani-Ferreira
OBJECTIVE: To describe a form of progressive retinal atrophy (PRA) in Whippets including clinical, electroretinographic, optical coherence tomographic changes and pedigree analysis. ANIMALS STUDIED: Client-owned Whippet dogs (n = 51) living in Brazil. PROCEDURES: All animals were submitted for routine ophthalmic screening for presumed inherited ocular disease, which included the following: visual tests, such as obstacle course tests, in scotopic and photopic conditions, cotton ball test, dazzle reflex, ocular fundus evaluation by indirect ophthalmoscopy followed by fundus photography...
November 29, 2016: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#7
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27882486/vep-analysis-methods-in-children-with-optic-nerve-hypoplasia-relationship-to-visual-acuity-and-optic-disc-diameter
#8
John P Kelly, James O Phillips, Avery H Weiss
PURPOSE: Assessing vision in young children with optic nerve hypoplasia (ONH) is challenging due to multi-directional infantile nystagmus, the range of optic nerve loss, and cognitive delay. This study examined visual evoked potential (VEP) responses and averaging techniques in children with ONH. The assumption is that EEG epochs with inconsistent temporal phase would be associated with nystagmus, signal reduction due to axon loss, and visual inattention. METHODS: A retrospective chart review was performed on 44 children (average age 2...
November 23, 2016: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#9
Mehmet Gunduz, Ozlem Unal
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27874249/role-of-neural-integrators-in-oculomotor-systems-a%C3%A2-systematic-narrative-literature-review
#10
REVIEW
Katherine Sanchez, Fiona J Rowe
PURPOSE: To evaluate the role of neural integrators (NI) in the oculomotor system. METHODS: A literature search was carried out using several electronic databases during the months of June 2014 to March 2015. The following keywords were used to generate focused results: 'neural integrators', 'gaze-holding', 'oculomotor integration', 'impaired gaze-holding', 'gaze evoked nystagmus' and 'gaze dysfunction'. Further materials were found through searching relevant articles within reference lists...
November 22, 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27872228/child-neurology-diencephalic-syndrome-like-presentation-of-a-cervicomedullary-brainstem-tumor
#11
Melanie Conway, Resham Ejaz, Elizabeth Kouzmitcheva, Deena Savlov, James T Rutka, Mahendranath Moharir
Diencephalic syndrome is a rare clinical entity, traditionally encompassing severe failure to thrive, nystagmus, and hyperkinesis, secondary to an intracranial neoplasm that is classically located in the hypothalamic region and its vicinity. However, the presenting features can be variable, often resulting in delayed diagnosis, which may worsen prognosis. This case report describes the atypical presentation of a posterior fossa tumor with features reminiscent of diencephalic syndrome that have not previously been reported in the literature...
November 22, 2016: Neurology
https://www.readbyqxmd.com/read/27871453/chasing-dizzy-chimera-diagnosis-of-combined-peripheral-and-central-vestibulopathy
#12
Seo-Young Choi, Hyo-Jung Kim, Ji-Soo Kim
Diagnosis of combined peripheral and central vestibulopathy remains a challenge since the findings from peripheral vestibular involvements may overshadow those from central vestibular disorders or vice versa. The aim of this study was to enhance detection of these intriguing disorders by characterizing the clinical features and underlying etiologies. We had recruited 55 patients with combined peripheral and central vestibulopathy at the Dizziness Clinic of Seoul National University Bundang Hospital from 2003 to 2013...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27867020/a-randomized-dose-escalation-study-of-intravenous-baclofen-in-healthy-volunteers-clinical-tolerance-and-pharmacokinetics
#13
Natalie S Schmitz, Linda E Krach, Lisa D Coles, Usha Mishra, Suresh K Agarwal, James C Cloyd, Robert L Kriel
BACKGROUND: Abrupt discontinuation of baclofen can result in a potentially severe withdrawal syndrome. The current treatment for baclofen withdrawal is inadequate, resulting in a critical need to develop an alternative method to prevent or treat this withdrawal syndrome. OBJECTIVE: To evaluate the safety profile and pharmacokinetics of oral (PO) and investigational intravenous (IV) baclofen formulations at clinically relevant doses. DESIGN: Randomized, open-label, dose escalation, crossover study SETTING: Contract Research Organization (CRO) METHODS: Three cohorts of 12 healthy adults received single doses of PO baclofen (10mg, 15 mg or 20 mg) and 10-minute infusions of IV baclofen (7...
November 17, 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27856148/evaluation-of-benign-paroxysmal-positional-vertigo-following-le-fort-i-osteotomy
#14
K Deniz, S S Akdeniz, A Ö Koç, S Uçkan, L N Ozluoğlu
The Le Fort I osteotomy is widely used to correct dentofacial deformities. Benign paroxysmal positional vertigo (BPPV) is a common vestibular end organ disorder characterized by short, often recurrent episodes of vertigo. Head trauma is one of the known causes of BPPV. During pterygoid osteotomy, the surgical trauma induced by percussion with the surgical mallet and osteotomes can displace otoliths into the semicircular canal, resulting in BPPV. The aim of this study was to evaluate the potential risk of occurrence of BPPV in individuals undergoing Le Fort I osteotomy...
November 14, 2016: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27855460/-diagnosis-and-current-therapy-of-vestibular-syndromes
#15
Michael Strupp, Thomas Brandt
Vertigo and dizziness are with an annual incidence of more than 10% and a lifetime prevalence of more than 30% among the most frequent symptoms. The keys to the diagnosis are the patient history and the bedside examination: a) for the patient history the time course, type and triggers of symptoms and accompanying symptoms, b) for the clinical examination of the vestibular system the head-impulse test (HIT), the examination for a spontaneous nystagmus, a displacement of subjective visual vertical, a positional nystagmus and the Romberg test, and c) for the differentiation between an acute peripheral and central vestibular lesion the skew deviation, central fixation nystagmus, gaze-evoked nystagmus, saccadic smooth pursuit and a normal HIT...
November 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27852232/novel-homozygous-missense-mutation-in-gan-associated-with-charcot-marie-tooth-disease-type-2-in-a-large-consanguineous-family-from-israel
#16
Sharon Aharoni, Katy E S Barwick, Rachel Straussberg, Gaurav V Harlalka, Yoram Nevo, Barry A Chioza, Meriel M McEntagart, Aviva Mimouni-Bloch, Michael Weedon, Andrew H Crosby
BACKGROUND: CMT-2 is a clinically and genetically heterogeneous group of peripheral axonal neuropathies characterized by slowly progressive weakness and atrophy of distal limb muscles resulting from length-dependent motor and sensory neurodegeneration. Classical giant axonal neuropathy (GAN) is an autosomal recessively inherited progressive neurodegenerative disorder of the peripheral and central nervous systems, typically diagnosed in early childhood and resulting in death by the end of the third decade...
November 16, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27847652/orthodontic-protocol-using-mini-implant-for-class-ii-treatment-in-patient-with-special-needs
#17
Fernando Pedrin Carvalho Ferreira, Anderson Paulo Barbosa Lima, Eliana de Cássia Molina de Paula, Ana Claudia de Castro Ferreira Conti, Danilo Pinelli Valarelli, Renata Rodrigues de Almeida-Pedrin
Improving facial and dental appearance and social interaction are the main factors for special needs (SN) patients to seek orthodontic treatment. The cooperation of SN patients and their parents is crucial for treatment success. Objective. To show through a case report the satisfactory results, both functional and esthetic, in patients with intellectual disability, congenital nystagmus, and severe scoliosis. Materials Used. Pendulum device with mini-implants as anchorage unit. Results. Improvement of facial and dental esthetics, correction of Class II malocclusion, and no root resorption shown in the radiographic follow-up...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#18
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/27832328/-ophthalmological-rehabilitation-of-visually-impaired-children
#19
E K Altpeter, N X Nguyen
BACKGROUND: There are very few studies on visually impaired children in Germany; therefore, the aim of this study was to investigate the current spectrum of diseases of visually impaired children and the care of these children in schools and kindergartens with aids and integrative support. PATIENTS AND METHODS: In a retrospective study all children (n =303) who attended the outpatient department for the visually impaired of the University Eye Hospital Tübingen in 2013 and 2014 were evaluated...
November 10, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27832268/an-active-efficient-coding-model-of-optokinetic-nystagmus
#20
Chong Zhang, Jochen Triesch, Bertram E Shi
Optokinetic nystagmus (OKN) is an involuntary eye movement responsible for stabilizing retinal images in the presence of relative motion between an observer and the environment. Fully understanding the development of OKN requires a neurally plausible computational model that accounts for the neural development and the behavior. To date, work in this area has been limited. We propose a neurally plausible framework for the joint development of disparity and motion tuning in the visual cortex and of optokinetic and vergence eye-movement behavior...
November 1, 2016: Journal of Vision
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