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https://www.readbyqxmd.com/read/29050284/mutational-analysis-of-a-chinese-family-with-oculocutaneous-albinism-type-2
#1
Xiong Wang, Yaowu Zhu, Na Shen, Jing Peng, Chunyu Wang, Haiyi Liu, Yanjun Lu
Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation of the skin, hair, and eyes accompanied with ophthalmologic abnormalities. Molecular genetic test can confirm the diagnosis of the four subtypes of OCA (OCA1-4). Herein, we report a Chinese family with two patients affected by OCA. Mutations of TYR, OCA2, TYRP1, and SLC45A2 were examined by using PCR-sequencing. Large deletions or duplications of TYR and OCA2 were examined by Multiplex Ligation-dependent Probe Amplification (MLPA) assay...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29048956/geographic-distribution-of-scorpion-exposures-in-the-united-states-2010-2015
#2
A Min Kang, Daniel E Brooks
OBJECTIVES: To determine the geographic distribution of scorpion envenomations in the United States by zip code, with particular attention to the neurotoxic Centruroides sculpturatus (Arizona bark scorpion), for which an antivenom is available. METHODS: We obtained scorpion exposure cases for 2010 to 2015 from the National Poison Data System. Using geographic information systems software, we mapped total exposures and incidence rates for 9 states that reported more than 100 annual calls...
October 19, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/29044088/management-of-idiopathic-intracranial-hypertension-in-an-infant-with-bilateral-congenital-cataract-and-associated-comitant-sensory-esotropia
#3
Jyoti Himanshu Matalia, Sheetal Shirke, Hemant Anaspure, Pooja Ghalla, Minal Kekatpure
In this report, we describe the management of a child with bilateral cataract, nystagmus, and comitant sensory esotropia. Routine ultrasonography done before cataract surgery revealed bilateral disc edema confirmed as idiopathic intracranial hypertension by a pediatric neurologist. The primary intervention for cataract surgery was followed by nonresolving papilledema, despite maximum medical therapy. To salvage the optic nerve function in a nonverbal child, bilateral optic nerve sheath decompression was planned with simultaneous medial rectus recessions for the persistent esotropia with the satisfactory postoperative outcome...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29033008/safety-and-long-term-efficacy-of-aav4-gene-therapy-in-patients-with-rpe65-leber-congenital-amaurosis
#4
Guylène Le Meur, Pierre Lebranchu, Fanny Billaud, Oumeya Adjali, Sébastien Schmitt, Stéphane Bézieau, Yann Péréon, Romain Valabregue, Catherine Ivan, Christophe Darmon, Philippe Moullier, Fabienne Rolling, Michel Weber
The aim of this study was the evaluation of the safety and efficacy of unilateral subretinal injection of the adeno-associated vector (AAV) serotypes 2 and 4 (AAV2/4) RPE65-RPE65 vector in patients with Leber congenital amaurosis (LCA) associated with RPE65 gene deficiency. We evaluated ocular and general tolerance and visual function up to 1 year after vector administration in the most severely affected eye in nine patients with retinal degeneration associated with mutations in the RPE65 gene. Patients received either low (1...
September 19, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29031998/dominant-foot-could-affect-the-postural-control-in-vestibular-neuritis-perceived-by-dynamic-body-balance
#5
Tomoe Yoshida, Toshitake Tanaka, Yuya Tamura, Masahiko Yamamoto, Mitsuya Suzuki
During attacks of vestibular neuritis (VN), patients typically lose postural balance, with resultant postural inclination, gait deviation toward the lesion side, and tendency to fall. In this study, we examined and analyzed static and dynamic postural control during attacks of VN to characterize differences in postural control between right and left VN. Subjects were patients diagnosed with VN at the Department of Otolaryngology, Toho University Sakura Medical Center, and underwent in-patient treatment. Twenty-five patients who had spontaneous nystagmus were assessed within 3days after the onset; all were right-foot dominant...
October 4, 2017: Gait & Posture
https://www.readbyqxmd.com/read/29031988/new-trends-in-childhood-vision-impairment-in-a-developed-country
#6
Chengde Pham, Shivanand J Sheth, Jill E Keeffe, Susan M Carden
BACKGROUND: The Education Vision Assessment Clinic (EVAC) is a unique statewide service that reviews school children 4-18 years of age with low vision in Victoria, Australia, to determine their eligibility for educational support. The purpose of this study was to identify causes of vision impairment in students in Victoria using data from the EVAC. METHODS: Data collected from students who attended the EVAC at the Royal Victorian Eye and Ear Hospital, Melbourne, between the years 2003 and 2012 inclusive, were analyzed retrospectively...
October 12, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29027761/oxidative-stress-and-mitochondrial-dynamics-malfunction-are-linked-in-pelizaeus-merzbacher-disease
#7
Montserrat Ruiz, Mélina Bégou, Nathalie Launay, Pablo Ranea-Robles, Patrizia Bianchi, Jone López-Erauskin, Laia Morató, Cristina Guilera, Bérengère Petit, Catherine Vaurs-Barriere, Céline Guéret-Gonthier, Marie-Noëlle Bonnet-Dupeyron, Stéphane Fourcade, Johan Auwerx, Odile Boespflug-Tanguy, Aurora Pujol
Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and progressive spasticity. PMD is caused by variations in the proteolipid protein gene PLP1, which encodes the two major myelin proteins of the central nervous system, PLP and its spliced isoform DM20, in oligodendrocytes. Large duplications including the entire PLP1 gene are the most frequent causative mutation leading to the classical form of PMD...
October 13, 2017: Brain Pathology
https://www.readbyqxmd.com/read/29025168/-a-model-explaining-infantile-esotropia-dissociated-strabismus-as-a-result-of-sensory-interhemispheric-dissociation-and-crossed-dominance-in-the-brainstem
#8
Marcel Paulus Ten Tusscher
Over 150 million years, modern reptiles, birds and mammals evolved. Predatory birds and mammals have eyes on the front of their heads. In these animals, binocular correspondence, voluntary eye movements, eye-hand coordination, partial decussation at the optic chiasm and cortical interhemispheric pathways could develop at the cost of a smaller visual field. The subsequent enlargement of the cerebral neocortex and the hemispheric pathways are of central importance in binocular vision, sensory fusion and infantile strabismus...
October 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29018889/-oculocutaneous-and-ocular-albinism
#9
REVIEW
A S Kubasch, M Meurer
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Of the seven currently known subtypes (OCA 1-7), four are well-characterized (OCA 1-4)...
October 10, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28991503/current-clinical-application-of-microperimetry-a-review
#10
Ainhoa Molina-Martín, Rafael J Pérez-Cambrodí, David P Piñero
Microperimetry (MP) is a technology that allows the study of retinal sensitivity at different foveal and parafoveal areas as well as eye fixation. It is a technique of functional evaluation, providing a direct correlation between anatomical and functional outcomes. There are a great variety of studies which evaluate the repeatability or reliability of measurements obtained with this technology and also describe and explore different clinical applications. MP has been shown to be useful in the characterization of sensory and motor conditions, such as amblyopia or nystagmus...
October 9, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28987310/spontaneous-subclavian-artery-dissection-causing-ischemia-of-the%C3%A2-medulla-oblongata-and-cerebellum
#11
Naoto Nagino, Hiraku Funakoshi, Takashi Shiga, Kuniyasu Saigusa
BACKGROUND: Spontaneous subclavian artery dissection is a rare etiology. Spontaneous artery dissection causing brain ischemia is rare in all ischemic strokes. However, in young to middle-aged patients with brain ischemia, spontaneous carotid or vertebral artery dissection causing ischemic stroke accounts for 10-25%. CASE REPORT: A 58-year-old man with a history of hypertension presented to the Emergency Department with a sudden onset of left-arm paresthesia and numbness followed by symptoms of vertigo and vomiting...
October 5, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28985828/cerebellopontine-angle-astrocytoma-producing-bruns-nystagmus-mimicking-vestibular-schwannoma
#12
Brian S Park, Stacy V Smith, Ama Sadaka, Andrew G Lee
No abstract text is available yet for this article.
October 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28984802/vestibular-function-change-in-a-vasopressin-induced-hydrops-model
#13
Minbum Kim, Kyu-Sung Kim
HYPOTHESIS: A vasopressin-induced endoymphatic hydrops model can represent an acute vertiginous attack in Menière's disease (MD). BACKGROUND: Previous animal models are not appropriate to evaluate the efficacy of new treatments for hydrops because they cannot represent an acute attack of MD. Recently, a new dynamic model was introduced for acute hydrops exacerbation using the vasopressin type 2 receptor agonist, desmopressin (1-deamino-8-D-Arginine vasopressin, VP); however, resulting changes in vestibular function have not been investigated...
October 4, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28980781/-inferior-vestibular-neuritis
#14
Stephen Jacques Alzuphar, Raphaël Maire
Inferior vestibular neuritis is a rare form of acute peripheral vestibular loss that only implies the lesion of the inferior vestibular nerve. The diagnosis is based on the observation of a spontaneous downbeating nystagmus, pathological head impulse test for the posterior semicircular canal and abnormal cervical vestibular-evoked myogenic potentials. Bithermal caloric testing and head impulse test for horizontal and anterior canals are normal, as well as the ocular vestibular-evoked myogenic potentials. The differential diagnosis of inferior vestibular neuritis includes the various central lesions that produce vertical down beating nystagmus (posterior fossa) and a cerebral magnetic resonance imaging is mandatory...
October 4, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28977031/sudden-sensorineural-hearing-loss-associated-with-inner-ear-lesions-detected-by-magnetic-resonance-imaging
#15
Jiwon Cho, Hanjae Cheon, Jung Hye Park, Hyo-Jeong Lee, Hyung-Jong Kim, Hyo Geun Choi, Ja-Won Koo, Sung Kwang Hong
Although recent advances in magnetic resonance imaging (MRI) techniques have contributed to the detection of tiny lesions in the internal auditory canal (IAC) that may be responsible for sudden sensorineural hearing loss (SSNHL), there have been relatively few studies on the clinical characteristics of intra-labyrinthine hemorrhage (ILH) and labyrinthitis versus those regarding IAC tumors. Our purpose was to investigate the frequency of those IAC lesions on MRI and their clinical characteristics. Initial MRIs of 200 patients with SSNHL (93 men, 107 women; mean age = 48...
2017: PloS One
https://www.readbyqxmd.com/read/28971630/visual-acuity-improves-in-children-and-adolescents-with-idiopathic-infantile-nystagmus
#16
Ben W R Balzer, Caroline J Catt, Milia Bou-Abdou, Frank J Martin
PURPOSE: Idiopathic infantile nystagmus is associated with reduced visual acuity. Recent work has linked extraocular muscle surgery to improvements in visual acuity through childhood but no work has reported long-term secular trends in visual acuity in infantile nystagmus. Our aim is to describe visual acuity changes for children and adolescents with idiopathic infantile nystagmus to allow comparison for future interventional studies. DESIGN: Retrospective chart review...
October 3, 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28969374/biallelic-mutations-in-the-homeodomain-of-nkx6-2-underlie-a-severe-hypomyelinating-leukodystrophy
#17
Imen Dorboz, Chiara Aiello, Cas Simons, Robert Thompson Stone, Marcello Niceta, Monique Elmaleh, Mohammad Abuawad, Diane Doummar, Alessandro Bruselles, Nicole I Wolf, Lorena Travaglini, Odile Boespflug-Tanguy, Marco Tartaglia, Adeline Vanderver, Diana Rodriguez, Enrico Bertini
Hypomyelinating leukodystrophies are genetically heterogeneous disorders with overlapping clinical and neuroimaging features reflecting variable abnormalities in myelin formation. We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a transcription factor regulating multiple developmental processes with a main role in oligodendrocyte differentiation and regulation of myelin-specific gene expression, as the cause underlying a previously unrecognized severe variant of hypomyelinating leukodystrophy...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28966547/diagnostic-application-of-clinical-exome-sequencing-in-leber-congenital-amaurosis
#18
Jinu Han, John Hoon Rim, In Sik Hwang, Jieun Kim, Saeam Shin, Seung-Tae Lee, Jong Rak Choi
PURPOSE: Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS: A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targets 4,813 clinically associated genes, followed by confirmation using Sanger sequencing...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28962155/stable-cell-lines-of-human-sh-sy5y-uniformly-expressing-wild-type-or-mutant-type-ferm-domain-containing-7-gene
#19
Jiali Pu, Yanfang Mao, Lingjia Xu, Tingting Zheng, Baorong Zhang
It has been reported that FERM domain containing 7 (FRMD7) may cause X-linked idiopathic congenital nystagmus (ICN). A total of >40 mutations of the FRMD7 gene have been identified, however their pathogenic role remains unclear. In the present study, enhanced green fluorescent protein-tagged wild-type (WT) and mutant (MT) FRMD7 (c. C781>G) were expressed in stably expressing human neuroblastoma SH-SY5Y cells following viral transfection and antibiotic selection. Uniform expression of the FRMD7 fusion proteins was confirmed via fluorescence microscopy and western blotting...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28949274/determination-of-the-time-course-of-caloric-nystagmus-in-patients-with-spinocerebellar-degeneration-using-caloric-step-stimulus-procedure
#20
Takamori Takeda, Ayane Makabe, Chiaki Hirai, Takeshi Tsutsumi
CONCLUSIONS: The step stimulus procedure can provide information on the time course of the vestibulo-ocular reflex. Spinocerebellar degeneration and aging seem to shorten the time constant of the onset of the vestibulo-ocular reflex, causing a rapid rise up. Failure of the central processing of velocity storage might contribute to this rapid rise up. OBJECTIVES: The aim of this study is to evaluate the time course characteristics of the vestibulo-ocular reflex in patients with spinocerebellar degeneration...
September 26, 2017: Acta Oto-laryngologica
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