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https://www.readbyqxmd.com/read/28231579/vibration-induced-nystagmus-a-biomarker-for-vestibular-deficits-a-synopsis
#1
Karl-Friedrich Hamann
A review of more than 20 years of experience with vibratory stimulation in vestibular diseases is given. Vibrations in a frequency frame of 30-60 Hz are applied on the mastoid during 20 s. Eye movements are recorded by video-oculography to detect a vibration-induced nystagmus (VIN). A VIN occurs in cases of a side difference between the peripheral vestibular receptors beating to the side of better excitability. In patients with central lesions, a VIN does not appear generally, only exceptionally if the lesion is located laterally in the brain stem...
February 24, 2017: ORL; Journal for Oto-rhino-laryngology and its related Specialties
https://www.readbyqxmd.com/read/28229637/a-simple-standard-technique-for-labyrinthectomy-in-the-rat-a-methodical-communication-with-a-detailed-description-of-the-surgical-process
#2
G L Nádasy, G Raffai, E Fehér, G Schaming, E Monos
Aims Labyrinthectomized rats are suitable models to test consequences of vestibular lesion and are widely used to study neural plasticity. We describe a combined microsurgical-chemical technique that can be routinely performed with minimum damage. Methods Caudal leaflet of the parotis is elevated. The tendinous fascia covering the bulla is opened frontally from the sternomastoid muscle's tendon while sparing facial nerve branches. A 4 mm diameter hole is drilled into the bulla's hind lower lateral wall to open the common (in rodents) mastoid-tympanic cavity...
September 2016: Physiol Int
https://www.readbyqxmd.com/read/28224454/effects-of-sustained-otolith-only-stimulation-on-post-rotational-nystagmus
#3
Aasef G Shaikh, David Solomon
Constant velocity rotations in darkness evoke vestibulo-ocular reflex in form of pre- and post-rotational nystagmus under cerebellar supervision. Reorientation of the head with respect to gravity, stimulating otolith and semicircular canal, during post-rotational phase rapidly suppresses the post-rotational nystagmus. We asked if pure otolith stimulation without semicircular canal signal is sufficient for the suppression of post-rotational nystagmus. The experimental paradigm comprised of on-axis rotations in the horizontal plane when the subject was sitting upright, followed by a novel stimulus that combined off-axis centrifugation in the horizontal plane with amplitude matched, yet out-of-phase, on-axis horizontal rotation-double centrifugation...
February 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28221333/idiopathic-bilateral-profound-hypotony-in-an-unknown-progressive-neurodegenerative-disorder
#4
Lorraine M Provencher, Pamela C Carter, Wallace L M Alward
PURPOSE: To present a unique case of idiopathic bilateral hypotony in a patient with progressive, undiagnosed neurological decline, possibly due to mitochondrial disease, and to explore mechanisms of disease and potential treatment options. METHODS: This is a case report. PATIENT: A 17-year-old boy with a history of chronic progressive bilateral vision loss and hypotony in the setting of progressive gait abnormalities, lower extremity spasticity, nystagmus, and urinary retention starting around age 8...
February 17, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28220291/efficacy-of-mastoid-oscillation-and-the-gufoni-maneuver-for-treating-apogeotropic-horizontal-benign-positional-vertigo-a-randomized-controlled-study
#5
Hyun Ah Kim, Sang-Won Park, Jungil Kim, Bong-Gu Kang, Jun Lee, Byung In Han, Jung Im Seok, Eun-Ji Chung, Jaeyoung Kim, Hyung Lee
: To determine the immediate and short-term efficacies of mastoid oscillation vs. Gufoni maneuver in treating the apogeotropic type of horizontal canal benign paroxysmal positional vertigo (HC-BPPV), we designed a randomized, prospective, sham-controlled study. In eight dizziness clinics in Korea, 209 consecutive patients with apogeotropic HC-BPPV were enrolled. The patients were randomly assigned to receive a single application of Gufoni (n = 70), mastoid oscillation (n = 67), or sham maneuver (n = 72)...
February 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28220267/chimpanzee-down-syndrome-a-case-study-of-trisomy-22-in-a-captive-chimpanzee
#6
Satoshi Hirata, Hirohisa Hirai, Etsuko Nogami, Naruki Morimura, Toshifumi Udono
We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee...
February 21, 2017: Primates; Journal of Primatology
https://www.readbyqxmd.com/read/28217393/rare-association-of-secondary-superficial-siderosis-caused-by-a-fourth-ventricle-hemorrhagic-ependymoma-mimicking-a-cavernoma-case-report-and-literature-review
#7
Eduardo E Espinosa Rodríguez, Rodrigo Carrasco Moro, Juan S Martínez San Millán, Héctor G Pian Arias
BACKGROUND: The association of a hemorrhagic tumor with secondary superficial siderosis (SS) is a relatively rare although well described phenomenon. CASE DESCRIPTION: We present the case report of a 35-year-old male with a history of drowsiness, hypoacusia, drop attacks, and multidirectional nystagmus during the last 2 months, who presented with acute obstructive hydrocephalus caused by a fourth ventricle mass displaying radiological signs of repeated intra and extratumoral hemorrhage with SS...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28213665/neurologic-manifestations-of-vitamin-b-deficiency-after-bariatric-surgery
#8
Suriya Punchai, Zubaidah Nor Hanipah, Katherine M Meister, Philip R Schauer, Stacy A Brethauer, Ali Aminian
INTRODUCTION: The aim of this study was to assess the incidence, clinical presentation, and outcomes of neurologic disorders secondary to vitamin B deficiencies following bariatric surgery. METHODS: Patients at a single academic institution who underwent bariatric surgery and developed neurologic complications secondary to low levels of vitamins B1, B2, B6, and B12 between the years 2004 and 2015 were studied. RESULTS: In total, 47 (0.7%) bariatric surgical patients (Roux-en-Y gastric bypass n = 36, sleeve gastrectomy n = 9, and duodenal switch n = 2) developed neurologic manifestations secondary to vitamin B deficiencies...
February 17, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28211458/molecular-genetic-and-clinical-evaluation-of-three-chinese-families-with-x-linked-ocular-albinism
#9
Xuan Zou, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Huajin Li, Ruifang Sui
X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR followed by Sanger sequencing in these families. All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28204987/the-effects-of-topical-carbonic-anhydrase-inhibitor-in-treatment-of-nystagmus
#10
Ebru Demet Aygit, Osman Bulut Ocak, Aslı İnal, Korhan Fazıl, Serpil Akar, Birsen Gokyigit
OBJECTIVE: To evaluate the effects of topical carbonic anhydrase inhibitor (CAI), brinzolamide (Azopt), for treatment of nystagmus patients. MATERIALS AND METHODS: Patients who used Brinzolamide for treatment of nystagmus were retrospectively analyzed. 23 patients were included in this study. The patients' diagnosis were idiopathic infantile nystagmus 18 (78.2%) and oculocutaneous albinism in 5 (21.8%). Azopt eye drop was used in both eyes, 3 times a day. Detailed eye examination in all of the patients before treatment and repeated at the end of the first week after treatment...
February 15, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28202828/-diagnosis-of-cochleovestibular-neurovascular-compression-syndrome-a-scoring-system-based-on-five-clinical-characteristics
#11
Tomomi Okamura, Takafumi Nishizaki, Norio Ikeda, Shigeki Nakano, Takanori Sakakura, Natsumi Fujii, Takeshi Okuda
: The optimal method for diagnosing cochleovestibular neurovascular compression syndrome(CNVC)remains controversial, and the aim of this study is to develop a standard diagnostic instrument for the condition. The clinical features of 53 sides of 50 patients with a combination of vertigo, tinnitus, and/or hearing loss were retrospectively evaluated. The following five clinical features were evaluated and given a score of 1 or 0:1)a long history of recurrent vertigo, tinnitus, or hearing loss;2)neurological findings related to positional vertigo, nystagmus, tinnitus, or hearing loss;3)neuro-otological findings involving tinnitus, audiometry, or vestibular testing;4)auditory brainstem response(ABR)evaluation with the detection of a low 25-75% II wave amplitude on the contralateral side and delayed interpeak latency in the I-III or I-V waves(usually low II wave amplitude combined with double peaks and a wide-based form)during ABR evaluation using 80 and 90dB clicks;and 5)the detection of vascular contact with the eighth cranial nerve on magnetic resonance imaging-constructive interference in steady state or air computed tomography imaging...
February 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28198465/fatigue-related-impairments-in-oculomotor-control-are-prevented-by-norepinephrine-dopamine-reuptake-inhibition
#12
Charlotte J W Connell, Benjamin Thompson, Jason Turuwhenua, Alexa Srzich, Nicholas Gant
Fatigue-induced reductions in saccade velocity have been reported following acute, prolonged exercise. Interestingly, the detrimental impact of fatigue on oculomotor control can be prevented by a moderate dose of caffeine. This effect may be related to central catecholamine upregulation via caffeine's action as an adenosine antagonist. To test this hypothesis, we compared the protective effect of caffeine on oculomotor control post-exercise to that of a norepinephrine-dopamine reuptake inhibitor. Within a placebo-controlled crossover design, 12 cyclists consumed placebo, caffeine or a norepinephrine-dopamine reuptake inhibitor (bupropion) during 180 minutes of stationary cycling...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28197754/differences-in-ocular-findings-in-two-siblings-one-with-complete-and-other-with-incomplete-achromatopsia
#13
Shinji Ueno, Ayami Nakanishi, Akira Sayo, Taro Kominami, Yasuki Ito, Takaaki Hayashi, Kazushige Tsunoda, Takeshi Iwata, Hiroko Terasaki
PURPOSE: Patients with complete achromatopsia (ACHM) lack cone function, and patients with incomplete ACHM have relatively good visual acuity with residual color vision. The pathological mechanism(s) underlying incomplete ACHM has not been determined. The purpose of this study was to determine the pathophysiology of ACHM in two siblings: one with complete ACHM and the other with incomplete ACHM. METHODS: The medical charts of the two siblings were reviewed. RESULTS: The sibling with incomplete ACHM had decimal visual acuities that ranged from 0...
February 14, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28195999/clinical-significance-of-arterial-stiffness-and-metabolic-syndrome-scores-in-vestibular-neuritis
#14
Jae Ho Chung, Seung Hwan Lee, Chul Won Park, Jin Hyeok Jeong, Jeong-Hun Shin
OBJECTIVE: To investigate the clinical significance of cardiovascular factors, including arterial stiffness and metabolic syndrome scores, in the development of vestibular neuritis. STUDY DESIGN: A prospective, case-control study. SETTING: Tertiary referral center. PATIENTS: Fifty-eight adult patients with vestibular neuritis (VN) and 58 age- and sex-matched controls were evaluated between January 2015 and January 2016...
February 10, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28187749/identification-of-a-large-intronic-transposal-insertion-in-slc17a5-causing-sialic-acid-storage-disease
#15
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, Colin J D Ross, Ans M W van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D M van Karnebeek, Maria Blomqvist
BACKGROUND: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy. Hypomyelination and corpus callosum hypoplasia are typical as well...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28186599/-diagnosis-of-a-case-with-oculocutaneous-albinism-type-%C3%A2-with-next-generation-exome-capture-sequencing
#16
Yuqiang Lyu, Jing Huang, Kaihui Zhang, Guohua Liu, Min Gao, Zhongtao Gai, Yi Liu
OBJECTIVE: To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism. METHODS: The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated. RESULTS: The child has displayed strabismus, poor vision, nystagmus and brown hair. DNA sequencing showed that the patient has carried compound heterozygous mutations of the TYRP1 gene, namely c...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28177849/the-clinical-evaluation-of-infantile-nystagmus-what-to-do-first-and-why
#17
Morgan Bertsch, Michael Floyd, Taylor Kehoe, Wanda Pfeifer, Arlene V Drack
INTRODUCTION: Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. METHODS: Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. DATA COLLECTED: pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28177336/nystagmus-intensity-and-direction-in-bow-and-lean-test-an-aid-to-diagnosis-of-lateral-semicircular-canal-benign-paroxysmal-positional-vertigo
#18
V Marcelli
The objective was to evaluate nystagmus intensity and direction (NID) during bow and lean test (BLT) in subjects suffering from idiopathic lateral semicircular canal benign paroxysmal positional vertigo (LSC-BPPV), in order to differentiate between the geotropic and the apogeotropic form and to determine the affected ear before using classic diagnostic procedures. The BLT was performed in 32 subjects affected by LSC-BPPV. "Nystagmus intensity" evaluation allows distinguishing the geotropic variant from the apogeotropic one, while the "nystagmus direction" allows identification of the side...
December 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28167673/ubiquitin-ligase-rnf138-promotes-episodic-ataxia-type-2-associated-aberrant-degradation-of-human-cav2-1-p-q-type-calcium-channels
#19
Ssu-Ju Fu, Chung-Jiuan Jeng, Chia-Hao Ma, Yi-Jheng Peng, Chi-Ming Lee, Ya-Ching Fang, Yi-Ching Lee, Sung-Chun Tang, Meng-Chun Hu, Chih-Yung Tang
: Voltage-gated CaV2.1 channels comprise a pore-forming α1A (CaV2.1) subunit with auxiliary α2δ and β subunits. CaV2.1 channels play an essential role in regulating synaptic signaling. Mutations in the human gene encoding CaV2.1 subunit are associated with the cerebellar disease episodic ataxia type 2 (EA2). Several EA2-causing mutants exhibit impaired protein stability and exert dominant-negative suppression of CaV2.1 wild-type (WT) protein expression via aberrant proteasomal degradation...
February 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28166430/effect-of-rigid-gas-permeable-contact-lenses-on-nystagmus-and-visual-function-in-hyperopic-patients-with-infantile-nystagmus-syndrome
#20
Abbas Bagheri, Hamed Abbasi, Mehdi Tavakoli, Abdolreza Sheibanizadeh, Bahareh Kheiri, Shahin Yazdani
PURPOSE: To determine the effect of rigid gas permeable contact lenses (RGPCL) on involuntary eye movements and visual function in hyperopic patients with infantile nystagmus syndrome. METHODS: This prospective interventional case series was conducted on 16 patients with infantile nystagmus and hyperopia equal or more than +0.5 D and astigmatism more than -1 D over a 2-year period. A complete ophthalmological examination including determination of best corrected visual acuity (BCVA), contrast sensitivity, and videonystagmography was performed for all patients before and after at least 3 months of RGPCL use, and the outcomes were compared...
February 6, 2017: Strabismus
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