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https://www.readbyqxmd.com/read/28816948/medial-medullary-infarction-caused-by-antineutrophil-cytoplasmic-antibody-related-vasculitis-case-report-and-review-of-the-literature
#1
Kumi Yanagiha, Kazuhiro Ishii, Tomoyuki Ueno, Aiki Marushima, Akira Tamaoka
RATIONALE: Medial medullary infarction accounts for less than 1% of brain infarctions, and medial medullary infarctions is very rarely caused by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. PATIENT CONCERNS: We report the case of a 76-year-old man at low risk of arteriosclerosis who presented with disorders on the left side including gaze-evoked nystagmus, paralysis of the extremities, pyramidal signs, sensory disturbance, and dysesthesia. Brain magnetic resonance imaging also showed right medial medullary infarction...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28814637/asymmetric-vestibular-stimulation-reveals-persistent-disruption-of-motion-perception-in-unilateral-vestibular-lesions
#2
Roberto Panichi, Mario Faralli, Rosa Bruni, Artemis Kiriakarely, Chiara Occhigrossi, Aldo Ferraresi, Adolfo M Bronstein, Vito Enrico Pettorossi
Self-motion perception was studied in patients with unilateral vestibular lesions (UVL) due to acute vestibular neuritis at 1 week, 4, 8 and 12 months after the acute episode. We assessed vestibularly-mediated self-motion perception by measuring the error in reproducing the position of a remembered visual target at the end of 4 cycles of asymmetric whole-body rotation. The oscillatory stimulus consists of a slow (0.09Hz) and a fast (0.38Hz) half cycle. A large error was present in UVL patients when the slow half cycle was delivered towards the lesion side, but minimal towards the healthy side...
August 16, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28811849/meniere-s-disease-and-vestibular-migraine-updates-and-review-of-the-literature
#3
REVIEW
Paul Tabet, Issam Saliba
The diagnosis of Meniere's disease (MD) and vestibular migraine (VM) is primarily based on clinical criteria and their differentiation is often difficult. Currently, there are no known definitive diagnostic tests that can reliably distinguish the two conditions. Patients with MD and patients with VM are treated differently, therefore improving the diagnosis of these two pathologies should avoid errors in management. A systematic review was conducted according to PRISMA guidelines. Medline-Ovid and Embase databases were used to conduct a thorough search of English-language publications dating from 1948 to March 2016...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28807751/a-novel-pmca3-mutation-in-an-ataxic-patient-with-hypomorphic-phosphomannomutase-2-pmm2-heterozygote-mutations-biochemical-characterization-of-the-pump-defect
#4
Mattia Vicario, Tito Calì, Domenico Cieri, Francesca Vallese, Raissa Bortolotto, Raffaele Lopreiato, Francesco Zonta, Marta Nardella, Alessia Micalizzi, Dirk J Lefeber, Enza Maria Valente, Enrico Bertini, Giuseppe Zanotti, Ginevra Zanni, Marisa Brini, Ernesto Carafoli
The neuron-restricted isoform 3 of the plasma membrane Ca(2+) ATPase plays a major role in the regulation of Ca(2+) homeostasis in the brain, where the precise control of Ca(2+) signaling is a necessity. Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described. Interestingly, the presence of co-occurring mutations in additional genes suggest their synergistic action in generating the neurological phenotype as digenic modulators of the role of PMCA3 in the pathologies...
August 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28798362/a-large-family-with-inherited-optic-disc-anomalies-a-correlation-between-a-new-genetic-locus-and-complex-ocular-phenotypes
#5
Decai Wang, Xinyuan Pan, Jiangdong Ji, Shun Gu, Xiantao Sun, Chao Jiang, Weiyi Xia, Zhihua Qiu, Xiaoli Kang, Sijia Ding, Qinghuai Liu, Xue Chen, Fang Lu, Chen Zhao
Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated form of autosomal dominant CODA. Cardinal manifestations included bilateral excavated optic disc with multiple cilioretinal vessels emerging and bilateral retinoschisis with great variability in the range of extension and severity. Other intra-familial phenotypic diversities were also noted, including severity in retinal atrophy, onset age of visual impairment and presence of congenital nystagmus and strabismus...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28795510/cngb3-mutation-spectrum-including-copy-number-variations-in-485-achromatopsia-patients
#6
Anja Kathrin Mayer, Caroline Van Cauwenbergh, Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere, Bernd Wissinger, Susanne Kohl
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, involved in the unfolded protein response. CNGB3 encoding the beta subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is the major achromatopsia gene. Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1,074 independent families clinically diagnosed with achromatopsia...
August 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28774465/a-new-preprocessing-parameter-estimation-based-on-geodesic-active-contour-model-for-automatic-vestibular-neuritis-diagnosis
#7
Amine Ben Slama, Aymen Mouelhi, Hanene Sahli, Sondes Manoubi, Chiraz Mbarek, Hedi Trabelsi, Farhat Fnaiech, Mounir Sayadi
The diagnostic of the vestibular neuritis (VN) presents many difficulties to traditional assessment methods This paper deals with a fully automatic VN diagnostic system based on nystagmus parameter estimation using a pupil detection algorithm. A geodesic active contour model is implemented to find an accurate segmentation region of the pupil. Hence, the novelty of the proposed algorithm is to speed up the standard segmentation by using a specific mask located on the region of interest. This allows a drastically computing time reduction and a great performance and accuracy of the obtained results...
July 23, 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28767521/disabling-central-paroxysmal-positioning-upbeat-nystagmus-and-vertigo-associated-with-the-presence-of-anti-glutamic-acid-decarboxylase-antibodies
#8
Ana I Martins, João N Carvalho, Ana M Amorim, Argemiro Geraldo, Eric Eggenberger, João Lemos
An immune attack by anti-glutamic acid decarboxylase (GAD) antibodies is believed to cause a deficiency in gamma-aminobutyric acid-mediated neurotransmission in the cerebellum. This, in turn, leads to several eye movement disorders, including spontaneous downbeat (DBN) and periodic alternating nystagmus. We describe a 68-year-old diabetic woman with disabling paroxysmal positioning upbeat nystagmus (UBN) exclusively in the supine position, associated with asymptomatic spontaneous DBN, alternating skew deviation and hyperactive vestibulo-ocular reflex responses on head impulse testing, in whom high titers of anti-GAD antibodies were detected...
August 1, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28767033/bruns-nystagmus-and-positive-head-impulse-tests-in-platybasia
#9
Sung-Hee Kim, Mi-Ri Kang, Hyo-Jung Kim, Ji-Soo Kim
No abstract text is available yet for this article.
July 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28764992/impact-on-gaba-systems-in-monogenetic-developmental-cns-disorders-clues-to-symptomatic-treatment
#10
REVIEW
Dietmar Benke, Hanns Möhler
Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations...
July 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28755307/switch-to-semont-maneuver-is-no-better-than-repetition-of-epley-maneuver-in-treating-refractory-bppv
#11
Sun-Young Oh, Ji-Soo Kim, Kwang-Dong Choi, Ji-Yun Park, S-H Jeong, Seung-Han Lee, Hak-Seung Lee, Tae-Ho Yang, H-J Kim
The objectives of this study is to compare the efficacy between repetition of Epley maneuver and switch to alternate Semont maneuver in treating posterior canal benign paroxysmal positional vertigo (PC-BPPV) that does not respond to the initial Epley maneuver. In the nationwide, seven dizziness clinics of Korea, 506 consecutive patients (303 women, age range 22-87, mean age ± SD = 64 ± 12, median = 61) with idiopathic PC-BPPV were initially treated with a single Epley maneuver. Of those, 144 (28.5%) patients, who did not respond to the therapy, were randomized to the repetition of Epley maneuver (n = 70) or switch to Semont maneuver (n = 74)...
July 28, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28745996/nystagmus-from-wernicke-s-encephalopathy
#12
Pria Anand, Daniel R Gold
A 28-year-old woman presented to the emergency department with vertigo, confusion, and falls 2 weeks after a surgical abortion at 11 weeks of gestation. Her pregnancy had been complicated by persistent hyperemesis gravidarum. An examination revealed spontaneous upbeat nystagmus (Video 1),..
July 27, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28744253/novel-eye-movement-disorders-in-whipple-s-disease-staircase-horizontal-saccades-gaze-evoked-nystagmus-and-esotropia
#13
Aasef G Shaikh, Fatema F Ghasia
Whipple's disease, a rare systemic infectious disorder, is complicated by the involvement of the central nervous system in about 5% of cases. Oscillations of the eyes and the jaw, called oculo-masticatory myorhythmia, are pathognomonic of the central nervous system involvement but are often absent. Typical manifestations of the central nervous system Whipple's disease are cognitive impairment, parkinsonism mimicking progressive supranuclear palsy with vertical saccade slowing, and up-gaze range limitation. We describe a unique patient with the central nervous system Whipple's disease who had typical features, including parkinsonism, cognitive impairment, and up-gaze limitation; but also had diplopia, esotropia with mild horizontal (abduction more than adduction) limitation, and vertigo...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28742631/vestibular-function-in-adults-with-epilepsy-of-unknown-etiology
#14
Sherifa A Hamed, Amal M Tohamy, Amira M Oseilly
OBJECTIVE: This study aimed to evaluate vestibular function in adults with chronic epilepsy of unknown etiology in the inter-ictal period. BACKGROUND: Epilepsy is a chronic medical disorder. Life-long therapy may be required in one-third of patients. Epilepsy is associated with comorbid somatic conditions which impairs patients' quality of life. METHODS: This cross-sectional study included 28 with generalized tonic clonic (GTC) convulsions and 14 and 3 with temporal (TLE) and frontal lobe (FLE) epilepsies with secondary generalization (all were on regular carbamazepine therapy) and 40 healthy control subjects...
September 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28734813/incidence-and-types-of-pediatric-nystagmus
#15
David L Nash, Nancy N Diehl, Brian G Mohney
PURPOSE: To report the incidence, prevalent subtypes and clinical characteristics of pediatric nystagmus diagnosed over a 30-year period. DESIGN: Retrospective, population-based study METHODS: Using the Rochester Epidemiology Project, the medical records of all children (<19 years) diagnosed as residents in Olmsted County, Minnesota with any form of nystagmus from January 1, 1976, through December 31, 2005, were reviewed. RESULTS: Seventy-one children were diagnosed during the 30-year period, yielding an annual incidence of 6...
July 19, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28734565/topical-brinzolamide-in-congenital-nystagmus-a-retrospective-study
#16
M Nieves-Moreno, L Morales Fernández, B Domingo Gordo, E Maillo, E Diaz, R Gómez-de-Liaño
OBJECTIVE: To evaluate the effect of treatment with topical brinzolamide on visual acuity and nystagmus intensity in patients with congenital nystagmus. MATERIAL AND METHODS: A retrospective study was designed in which the clinical records of 14 patients with congenital nystagmus were reviewed. All patients underwent a complete ophthalmological examination and a Perea video-oculography (VOG) before, and three days after, initiation of treatment with topical brinzolamide (Azopt)...
July 19, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28733210/threat-effects-on-human-oculo-motor-function
#17
E N Naranjo, T W Cleworth, J H J Allum, J T Inglis, J Lea, B D Westerberg, M G Carpenter
Neuro-anatomical evidence supports the potential for threat-related factors, such as fear, anxiety and vigilance, to influence brainstem motor nuclei controlling eye movements, as well as the vestibular nuclei. However, little is known about how threat influences human ocular responses, such as eye saccades (ES), smooth pursuit eye tracking (SP), and optokinetic nystagmus (OKN), and whether these responses can be facilitated above normal baseline levels with a natural source of threat. This study was designed to examine the effects of height-induced postural threat on the gain of ES, SP and OKN responses in humans...
July 18, 2017: Neuroscience
https://www.readbyqxmd.com/read/28729039/congenital-myopathy-due-to-myosin-heavy-chain-2-mutation-presenting-as-chronic-aspiration-pneumonia-in-infancy
#18
R Tsabari, H Daum, E Kerem, Y Fellig, T Dor
A 7-week-old infant presented with persistent noisy breathing and aspirations during swallowing. Neurological examination and brain MRI were normal. His 12-year-old brother underwent pneumonectomy at the age of 10 years due to recurrent aspirations leading to severe lung damage. The older brother developed subsequently ophthalmoplegia and nystagmus along with mild weakness of the neck flexors and proximal muscles. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous...
June 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28725982/analysis-of-risk-factors-influencing-the-outcome-of-the-epley-maneuver
#19
E Domínguez-Durán, E Domènech-Vadillo, M G Álvarez-Morujo de Sande, R González-Aguado, G Guerra-Jiménez, Á Ramos-Macías, C Morales-Angulo, A J Martín-Mateos, E Figuerola-Massana, H Galera-Ruiz
Benign paroxysmal positional vertigo (BPPV) is the most frequent type of vertigo. The treatment of canalithiasis of the posterior semicircular canal consists in performing a particle-repositioning maneuver, such as the Epley maneuver (EM). However, the EM is not effective in all cases. The objective of this study is to identify risk factors, which predict the EM failure, among the clinical variables recorded in anamnesis and patient examination. This is an observational prospective multicentric study. All patients presenting with BPPV were recruited and applied the EM and appointed for a follow-up visit 7 days later...
July 19, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28718302/cardiovascular-risk-factors-among-patients-with-vestibular-neuritis
#20
Yahav Oron, Shay Shemesh, Sagit Shushan, Udi Cinamon, Abraham Goldfarb, Ron Dabby, Sharon Ovnat Tamir
OBJECTIVE: To investigate the correlation between cardiovascular risk factors (CVRFs) and vestibular neuritis (VN) in hospitalized adult patients. METHODS: A cross-sectional retrospective study was conducted in a tertiary hospital setting. The medical records of patients (aged over 18 years old) who were hospitalized between the years 2005 and 2014 with the diagnosis of VN were retrieved. Inclusion criteria were: (1) acute vertigo lasting for at least 24 hours, (2) absence of auditory complaints, (3) horizontal unidirectional nystagmus present during physical examination, and (4) absence of neurological symptoms or signs...
August 2017: Annals of Otology, Rhinology, and Laryngology
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