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https://www.readbyqxmd.com/read/28641325/superior-canal-dehiscence-syndrome-associated-with-scuba-diving
#1
Naoharu Kitajima, Akemi Sugita-Kitajima, Seiji Kitajima
A 28-year-old female diver presented with dizziness and difficulty clearing her left ear whilst scuba diving. Her pure-tone audiometry and tympanometry were normal. Testing of Eustachian tube function revealed tubal stenosis. Video-oculography revealed a predominantly torsional nystagmus while the patient was in the lordotic position. Fistula signs were positive. High-resolution computed tomography (HRCT) of the temporal bone revealed a diagnosis of bilateral superior semicircular canal dehiscence (SCDS). Cervical vestibular-evoked myogenic potential (cVEMP) testing showed that the amplitude of the cVEMP measured from her left ear was larger than that from the right...
June 2017: Diving and Hyperbaric Medicine: the Journal of the South Pacific Underwater Medicine Society
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#2
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635217/-the-exploration-on-optimization-of-two-alternatives-between-roll-test-and-dix-hallpike-test-in-benign-paroxysmal-positional-vertigo
#3
R Ji, T S Chen, W Wang, K X Xu, S S Li, C Wen, Q Liu, P Lin
Objective: To analyze the objective characteristics of roll test and Dix-Hallpike test in benign paroxysmal positional vertigo(BPPV)patients, discussing the premier solution of positional test. Methods: A total of 230 patients with BPPV, whereas 170 posterior semicircular canal canalithiasis (PSC-Can) BPPV and 60 horizontal semicircular canal canalithiasis (HSC-Can) BPPV were involved respectively. The induced nystagmus in roll test and Dix-Hallpike test was recorded by video nystagmuo graph (VNG), and the direction, intensity and time characteristics of nystagmus were compared in various BPPV...
June 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28632848/effect-of-gabapentin-memantine-on-the-infantile-nystagmus-syndrome-in-the-zebrafish-model-implications-for-the-therapy-of-ocular-motor-diseases
#4
Stefan Yu Bögli, Maresa Afthinos, Melody Ying-Yu Huang
Purpose: Infantile nystagmus syndrome (INS) is a disorder characterized by typical horizontal eye oscillations. Due to the uncertain etiology of INS, developing specific treatments remains difficult. Single reports demonstrated, on limited measures, alleviating effects of gabapentin and memantine. In the current study, we employed the zebrafish INS model belladonna (bel) to conduct an in-depth study of how gabapentin and memantine interventions alleviate INS signs, which may further restore visual conditions in affected subjects...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28628552/a-case-study-of-high-velocity-persistent-geotropic-nystagmus-is-this-bppv
#5
Michael C Schubert, Pamela M Dunlap, Susan L Whitney
BACKGROUND AND PURPOSE: Deciphering the cause for a persistent, direction-changing geotropic nystagmus can be difficult. Migraine and light cupula are two possible causes, though can be confused with benign paroxysmal positional vertigo (BPPV) affecting the horizontal semicircular canal. In migraine, the persistent geotropic nystagmus tends to be slow; in light cupula, the nystagmus has been illustrated to beat in the direction opposite that of prone positioning. CASE DESCRIPTION: Here we describe a patient with initial occurrence then recurrence of a high velocity (≥30 deg/sec), persistent direction-changing geotropic nystagmus and vertigo with an intensity variable based on head position, which was difficult to manage...
July 2017: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/28626782/anti-dppx-encephalitis-prominent-nystagmus-reflected-by-extraocular-muscle-fdg-pet-avidity
#6
Leana Doherty, Daniel Gold, Lilja Solnes, John Probasco, Arun Venkatesan
No abstract text is available yet for this article.
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28623544/clinical-feature-and-waveform-in-infantile-nystagmus-syndrome-in-children-with-frmd7-gene-mutations
#7
Dayong Bai, Wei Shi, Zhan Qi, Wei Li, Aihua Wei, Yanhui Cui, Cheng Li, Li Li
Infant nystagmus sydrome presents as involuntary eye movement disorder and can affect seriously ocular function. We performed a retrospective study of clinical data and FRMD7 genetic test results in 12 cases of infantile nystagmus syndrome to correlate waveform, stereopsis, and visual acuity. The patients (age 6.40±2.67 years) had FRMD7 mutations as follows: missense in eight cases, shear in two cases, frameshift in one case, and non-frameshift in one case. Horizontal jerk waveform was observed in six cases, versus horizontal pendulum in five cases and dual jerk in one case...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28616716/retinal-microstructures-are-altered-in-patients-with-idiopathic-infantile-nystagmus
#8
Jinu Han, Taekjune Lee, Jong Bok Lee, Sueng-Han Han
PURPOSE: To compare segmented retinal layer thicknesses between patients with idiopathic infantile nystagmus (IIN) and controls. METHODS: This retrospective case-control study included 66 patients with IIN and 66 age-matched controls. The retinal layers were examined using spectral domain optical coherence tomography with autosegmentation. Central foveal thickness (CFT), outer nuclear layer (ONL), and outer segment length (OSL) thickness were measured at the fovea center...
June 14, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28614692/seesaw-nystagmus
#9
K V S Hari Kumar, Pratima Singh
A 52-year-old man presented to the emergency department with a 1-year history of generalized headache, diminished vision, and abnormal eye movements. Examination of the fundus revealed disk pallor. His pupillary reflexes were normal, but there was reduced visual acuity (20/120) in both eyes and..
June 15, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28596720/aav-mediated-gene-supplementation-therapy-in-achromatopsia-type-2-preclinical-data-on-therapeutic-time-window-and-long-term-effects
#10
Regine Mühlfriedel, Naoyuki Tanimoto, Christian Schön, Vithiyanjali Sothilingam, Marina Garcia Garrido, Susanne C Beck, Gesine Huber, Martin Biel, Mathias W Seeliger, Stylianos Michalakis
Achromatopsia type 2 (ACHM2) is a severe, inherited eye disease caused by mutations in the CNGA3 gene encoding the α subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel. Patients suffer from strongly impaired daylight vision, photophobia, nystagmus, and lack of color discrimination. We have previously shown in the Cnga3 knockout (KO) mouse model of ACHM2 that gene supplementation therapy is effective in rescuing cone function and morphology and delaying cone degeneration. In our preclinical approach, we use recombinant adeno-associated virus (AAV) vector-mediated gene transfer to express the murine Cnga3 gene under control of the mouse blue opsin promoter...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28592301/pneumococcal-meningitis-with-normal-cerebrospinal-biochemistry-and-no-pneumococci-at-microscopy-mimicking-a-stroke-a-case-report
#11
Gideon Ertner, Jeppe Romme Christensen, Christian T Brandt
BACKGROUND: Bacterial meningitis commonly presents with symptoms such as headache, impaired consciousness, neck stiffness, and fever. In most cases, cerebrospinal fluid analysis will yield white cell counts >100/mm(3). Atypical presentations occur, especially in the very young or very elderly and the immunocompromised. We report an unusual case of pneumococcal meningitis in a healthy 78-year-old Danish woman who presented with clinical features mimicking a stroke with normal cerebrospinal fluid parameters and without microscopic evidence of bacteria...
June 7, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28590798/beyond-ketamine-and-phencyclidine-analytically-confirmed-use-of-multiple-novel-arylcyclohexylamines
#12
Stephen Thornton, David Lisbon, Thomas Lin, Roy Gerona
BACKGROUND: Methoxetamine and 3-methoxy-phencyclidine are novel arylcyclohexylamines whose use and clinical toxicity are poorly reported in the medical literature. We report a case of analytically confirmed use of both methoxetamine and 3-methoxy-phencyclidine. CASE REPORT: A 27-year-old male presented 10 hours after insufflating an Internet-obtained powder. He was hypertensive, tachycardic, and demonstrated dissociated affect, a delayed verbal response to questions, ataxia, and vertical nystagmus...
June 7, 2017: Journal of Psychoactive Drugs
https://www.readbyqxmd.com/read/28589049/chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-with-cranial-and-caudal-extension
#13
Mahmood Mubasher, Aseel Sukik, Ahmed Hassan El Beltagi, Ali Rahil
A 23-year-old lady presented with vertigo and imbalance in walking, blurring of vision, diplopia, and headache, in addition to numbness in the lower limbs over a period of six days. On examination patient had nystagmus, ataxia, positive Romberg test, and hyperreflexia. MRI examination of the brain and spinal cord showed evidence of faint bright signal intensity foci in T2/FLAIR involving bilateral cerebral hemispheres, subcortical deep white matter, bilateral thalami, posterior pons and left brachium pontis, and basal ganglia, with small nodular enhancement that aligned along curvilinear structures; those lesions also were apparent along the spinal cord at multiple levels...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28587881/mr-imaging-findings-in-children-with-spasmus-nutans
#14
Meredith Bowen, Jason Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
BACKGROUND: Spasmus Nutans (SN) is a rare pediatric ophthalmologic syndrome of nystagmus, head bobbing and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of this is association is based primarily on a small number of isolated case reports. Prior retrospective analyses have found the rate of OPG to be less than 2%, but only intermittently utilized neuroimaging with CT, which has limited sensitivity for detection of small lesions in the optic pathway...
June 3, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28579345/efficacy-and-safety-of-midazolam-and-ketamine-in-paediatric-upper-endoscopy
#15
Ahmet Basturk, Reha Artan, Aygen Yılmaz
BACKGROUND AND STUDY AIM: Upper endoscopy can be successfully carried out in children under deep sedation and anaesthesia. However, the best method of upper endoscopy for children who require gastrointestinal intervention has yet to be defined. The aim of this study is to investigate the efficacy and safety of the sedation induced by intravenous midazolam and ketamine during upper endoscopy in children. PATIENTS AND METHODS: This study included patients ages 3-18years who had undergone upper endoscopy...
June 1, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28575309/nonhuman-primate-studies-to-advance-vision-science-and-prevent-blindness
#16
Michael J Mustari
Most primate behavior is dependent on high acuity vision. Optimal visual performance in primates depends heavily upon frontally placed eyes, retinal specializations, and binocular vision. To see an object clearly its image must be placed on or near the fovea of each eye. The oculomotor system is responsible for maintaining precise eye alignment during fixation and generating eye movements to track moving targets. The visual system of nonhuman primates has a similar anatomical organization and functional capability to that of humans...
May 31, 2017: ILAR Journal
https://www.readbyqxmd.com/read/28567027/transient-vestibulopathy-in-wallenberg-s-syndrome-pathologic-analysis
#17
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/28562391/pierpont-syndrome-report-of-a-new-patient
#18
Anne-Karin Kahlert, Sabine Weidensee, Luisa Mackenroth, Joseph Porrmann, Andreas Rump, Nataliya Di Donato, Evelin Schröck, Andreas Tzschach
Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p.(Tyr446Cys)] has been described recently in six unrelated patients with Pierpont syndrome. We report on a male child with developmental delay, distinctive facial dysmorphic features, dystrophy, and abnormal fat distribution in the feet, in whom we identified the identical TBL1XR1 mutation...
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28561344/bilateral-vestibulopathy-with-positive-tullio-phenomenon
#19
Sigrid Finn, Maren Dietzek, Panagiota Karvouniari, Carsten M Klingner, Rotraud Neumann, Orlando Guntinas-Lichius, Otto W Witte, Hubertus Axer
We describe the case of a 34-year-old patient presenting with the unique combination of bilateral vestibulopathy in combination with noise- and pressure-induced nystagmus. Bilateral vestibular dysfunction was demonstrated by pathological results in video-based head impulse testing as well as in caloric testing. In contrast, cervical vestibular-evoked myogenic potentials were normal, demonstrating normal sacculus function. Due to the positive Tullio phenomenon, semicircular dehiscence syndrome was excluded. Recently, this symptom combination was related to the histopathological finding of vestibular atelectasis...
May 31, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28560845/spinocerebellar-ataxia-type-10-common-haplotype-and-disease-progression-rate-in-peru-and-brazil
#20
T C Gheno, G V Furtado, J A M Saute, K C Donis, A M V Fontanari, V E Emmel, J L Pedroso, O Barsottini, C Godeiro-Junior, H van der Linden, E Ternes Pereira, V P Cintra, W Marques, R M de Castilhos, I Alonso, J Sequeiros, M Cornejo-Olivas, P Mazzetti, V B Leotti, L B Jardim, M L Saraiva-Pereira
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic haplotypes of patients with spinocerebellar ataxia type 10 from Brazil and Peru. METHODS: Expanded alleles were detected by repeat-primed polymerase chain reaction. Disease progression was measured by the Scale for the Assessment and Rating of Ataxia, and the Neurological Examination Score for Spinocerebellar Ataxias when possible...
May 31, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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