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https://www.readbyqxmd.com/read/29234822/-acute-vestibular-syndrome-clinical-examination-outperforms-mri-in-the-detection-of-central-lesions
#1
REVIEW
F Thömke
A significant number of patients who seek medical treatment in an emergency department because of vertigo or dizziness, suffer from acute vestibular syndrome. This is characterized by sustained vertigo, horizontal or horizontal rotatory jerk nystagmus, and unsteady stance and gait. In the acute situation it is crucial to differentiate patients with a peripheral vestibular disorder from those with a central disease. A number of recent studies have shown that a structured clinical examination enables a reliable differential diagnosis of central or peripheral disorders...
December 12, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29232904/an-expanded-multi-organ-disease-phenotype-associated-with-mutations-in-yars
#2
Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, Deborah Nickerson, Michael J Bamshad, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P M Cremers, Lisbeth Tranebjærg
Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease...
December 11, 2017: Genes
https://www.readbyqxmd.com/read/29210008/development-and-surgical-removal-of-an-epiretinal-membrane-in-infantile-nystagmus-syndrome-a-new-type-of-oscillopsia
#3
Louis F Dell'Osso, Suber S Huang
PURPOSE: To report and discuss a focal oscillopsia in a small area of the visual field produced by, and after the removal of, an epiretinal membrane (ERM) in an individual with infantile nystagmus syndrome (INS) since birth with no associated afferent visual deficits. STUDY DESIGN: A retrospective case report. METHODS: A chart review, including clinical and electrophysiological data. A 74 y/o man with INS and an epiretinal membrane was studied...
December 5, 2017: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29204212/isolated-superior-divisional-oculomotor-nerve-palsy-and-nystagmus-following-mild-trauma
#4
Mukesh Jain, Nirupama Kasturi, Renuka Srinivasan
Traumatic isolated divisional oculomotor nerve palsy has not been reported following mild head injury. We present an interesting case of a 10-year-old male boy who presented with right-sided ptosis, upgaze palsy, and horizontal nystagmus following a mild head trauma. Magnetic resonance imaging showed right superior rectus muscle atrophy. After observing for 6 months, right inferior rectus recession was done. The abnormal head posture and diplopia got corrected, but nystagmus persisted, although with appreciably decreased amplitude...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29194214/prediction-of-vestibular-imbalance-in-acute-peripheral-vestibulopathy-by-measuring-horizontal-ocular-deviation-on-magnetic-resonance-imaging
#5
Yeon-Jun Yang, Kun Woo Kim, Ji Eun Choi, Min Young Lee, Dong Soo Yoo, Jae Yun Jung
OBJECTIVES: The aim of the study is to evaluate whether horizontal ocular deviation (OD) from MR imaging in the emergency room (ER) reflects vestibular imbalance, by comparing the horizontal OD in patients with acute vestibulopathy to controls. STUDY DESIGN: Retrospective review. PATIENTS AND METHODS: A total of 69 patients with acute unilateral peripheral vestibulopathy and 30 healthy subjects were included. Horizontal OD was quantified by using the axial T2-weighted fast-spin echo (FSE) images of the brain at 1...
November 29, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29193763/identification-of-a-novel-rpgrip1-mutation-in-an-iranian-family-with-leber-congenital-amaurosis-by-exome-sequencing
#6
Saber Imani, Jingliang Cheng, Abdolkarim Mobasher-Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab-Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu
Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus...
November 29, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29193673/ophthalmic-features-of-cone-rod-dystrophy-caused-by-pathogenic-variants-in-the-alms1-gene
#7
Fadi Nasser, Nicole Weisschuh, Pietro Maffei, Gabriella Milan, Corina Heller, Eberhart Zrenner, Susanne Kohl, Laura Kuehlewein
PURPOSE: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. METHODS: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination...
November 30, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29187759/binocular-cyclotorsion-in-superior-vestibular-neuritis
#8
R Lapenna, A Pellegrino, G Ricci, C Cagini, M Faralli
Conjugated cyclotorsion of the eyes toward the affected side can commonly be observed in vestibular neuritis. The aim of this study was to assess the differences in cyclotorsion between the ipsi- and contralesional eye during selective involvement of the superior branch of the vestibular nerve. We studied binocular cyclotorsion through ocular fundus photographs in 10 patients affected by acute superior vestibular neuritis (SVN). Cyclotorsion was also studied in 20 normal subjects. All SVN patients showed an ipsilesional cycloversion of the eyes...
November 30, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/29186371/a-recurrent-de-novo-mutation-in-tmem106b-causes-hypomyelinating-leukodystrophy
#9
Cas Simons, David Dyment, Stephen J Bent, Joanna Crawford, Marc D'Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee-Tien Poll-The, Christine C Makowski, Yoko Ito, Kristin Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J Taft, Marjo S van der Knaap, Nicole I Wolf
Hypomyelinating leukodystrophies are a heterogeneous group of disorders with a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity. Using next-generation sequencing techniques and GeneMatcher, we identified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mutation, c.754G>A p.(Asp252Asn), in TMEM106B. The mutation was confirmed as de novo in three of the cases, and the mildly affected father of the fourth affected individual was confirmed as mosaic for this variant...
November 27, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29178892/knobloch-syndrome-associated-with-polymicrogyria-and-early-onset-of-retinal-detachment-two-case-reports
#10
Robert J White, Yao Wang, Peter Tang, Sandra R Montezuma
BACKGROUND: Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. Retinal detachment (RD) often occurs at the end of the first decade of life or later. Aside from occipital skull defects, central nervous system abnormalities are uncommon. CASE PRESENTATIONS: We report on two siblings with KS. The first, a seven month old male, presented with nystagmus and was found to have a serous RD and a tessellated retinal appearance...
November 25, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29171168/pilocytic-astrocytoma-with-leptomeningeal-spread-in-a-patient-with-incontinentia-pigmenti-presenting-with-unilateral-nystagmus
#11
Cheryl B Bayart, Gisele E Ishak, Laura S Finn, Amy Lee, Francine Baran, Angela Sun, Deepti Gupta, Nicholas A Vitanza
Incontinentia pigmenti (IP) is a genetic disorder caused by mutations in IKBKG, leading to functional loss of nuclear factor kappa B (NF-ĸB). We report the case of a 6-month-old female child with IP who presented with unilateral nystagmus and was found to have a pilocytic astrocytoma with leptomeningeal spread. Enhanced understanding of the relationship between NF-ĸB, along with its upstream regulators, and tumorigenesis may shed light on whether a subset of patients with IP may be at increased risk for neoplasia...
November 24, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29170652/characteristic-eye-movements-in-ataxia-telangiectasia-like-disorder-an-explanatory-hypothesis
#12
Pamela Federighi, Stefano Ramat, Francesca Rosini, Elena Pretegiani, Antonio Federico, Alessandra Rufa
Objective: To investigate cerebellar dysfunctions and quantitatively characterize specific oculomotor changes in ataxia-telangiectasia-like disorder (ATLD), a rare autosomal recessive disease caused by mutations in the MRE11 gene. Additionally, to further elucidate the pathophysiology of cerebellar damage in the ataxia-telangiectasia (AT) spectrum disorders. Methods: Saccade dynamics, metrics, and visual fixation deficits were investigated in two Italian adult siblings with genetically confirmed ATLD...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29166939/acute-cerebellitis-in-adults-a-case-report-and-review-of-the-literature
#13
A Van Samkar, M N F Poulsen, H P Bienfait, R B Van Leeuwen
BACKGROUND: Acute cerebellitis is a rare disease with the majority of cases described in children. Little is known about the clinical characteristics and outcome in adults. CASE PRESENTATION: A 37-year-old Caucasian woman presented with headache, nausea, and photophobia, and was diagnosed as having a migraine attack. Two days later, she subsequently returned with aggravated headache, dysarthria and horizontal nystagmus. Magnetic resonance imaging (MRI) showed a swollen cerebellum and hydrocephalus and the patient was diagnosed with acute cerebellitis...
November 22, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29163350/differential-diagnosis-of-vertigo-in-the-emergency-department-a-prospective-validation-study-of-the-standing-algorithm
#14
Simone Vanni, Rudi Pecci, Jonathan A Edlow, Peiman Nazerian, Rossana Santimone, Giuseppe Pepe, Marco Moretti, Andrea Pavellini, Cosimo Caviglioli, Claudia Casula, Sofia Bigiarini, Paolo Vannucchi, Stefano Grifoni
Objective: We investigated the reliability and accuracy of a bedside diagnostic algorithm for patients presenting with vertigo/unsteadiness to the emergency department. Methods: We enrolled consecutive adult patients presenting with vertigo/unsteadiness at a tertiary hospital. STANDING, the acronym for the four-step algorithm we have previously described, based on nystagmus observation and well-known diagnostic maneuvers includes (1) the discrimination between SponTAneous and positional nystagmus, (2) the evaluation of the Nystagmus Direction, (3) the head Impulse test, and (4) the evaluation of equilibrium (staNdinG)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29154247/diagnostic-evaluation-of-neck-torsion-test-in-objective-examination-in-patients-with-vertigo-and-or-hearing-impairment
#15
Piotr Niewiadomski, Marzena Bielińska, Piotr Pietkiewicz, Jurek Olszewski
INTRODUCTION: The aim of the study was to evaluate the neck torsion test in objective examinations of patients with vertigo and/or hearing loss. MATERIAL AND METHODS: The study was conducted in 100 patients, including 54 women and 46 men aged 17-79 years, who were divided into two groups: I - 50 patients, including 30 women and 20 men aged 17-79 years (mean age 49.92 years) with dizziness and/or hearing impairments, and confirmed asymmetry of intracranial vessels, II - 50 patients - the control group, including 24 women and 26 men aged 20-71 years without dizziness and/or hearing disorders and without disturbance in the construction of intracranial vessels...
October 30, 2017: Otolaryngologia Polska
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#16
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#17
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29142084/impaired-vestibular-responses-in-internuclear-ophthalmoplegia-association-and-dissociation
#18
Seo-Young Choi, Hyo-Jung Kim, Ji-Soo Kim
OBJECTIVE: To determine the role of the medial longitudinal fasciculus (MLF) in conveying vestibular signals. METHODS: In 10 patients with isolated acute unilateral internuclear ophthalmoplegia (INO) due to an acute stroke, we performed comprehensive vestibular evaluation using video-oculography, head impulse tests with a magnetic search coil technique, bithermal caloric tests, tests for the ocular tilt reaction, and measurements of subjective visual vertical and cervical and ocular vestibular evoked myogenic potentials (VEMPs)...
November 15, 2017: Neurology
https://www.readbyqxmd.com/read/29141928/reversible-brain-lesion-following-growth-hormone-replacement-therapy-in-an-adolescent
#19
Adamos Hadjipanayis, Elisavet Efstathiou, Leda Theophilou, George Chrousos
A 12.6-year-old girl presented with a 2-month history of headache, recurrent vomiting and 5 kg weight loss. She had been receiving recombinant human growth hormone (rhGH) replacement therapy at a dose of 0.035 mg/kg for the past 10 months, due to short stature. Investigations before initiating rhGH, including brain MRI, had been normal. Physical examination revealed a nystagmus and a mildly elevated arterial blood pressure. Brain MRI revealed a lesion in the posterior aspect of the medulla oblongata, adjacent to the foramen of Magendie...
November 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29141478/utility-of-quick-oculomotor-tests-for-screening-the-vestibular-system-in-the-subacute-and-chronic-populations
#20
Helen S Cohen, Jasmine Stitz, Haleh Sangi-Haghpeykar, Susan P Williams, Ajitkumar P Mulavara, Brian T Peters, Jacob J Bloomberg
OBJECTIVE: The goal of this study was to determine the sensitivity and specificity of some widely used, easily administered clinical tests. BACKGROUND: Simple tests of oculomotor function have become widely used for clinical screening of patients suspected of having vestibular disorders despite a paucity of evidence showing good statistical support for their use in this highly variable population. METHODS: Healthy controls with no history of otologic or neurologic disorders (n = 291) were compared to patients with known vestibular disorders (n = 62)...
November 16, 2017: Acta Oto-laryngologica
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