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https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#1
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28323487/pathological-eye-movements-influence-on-the-recordings-of-ocular-vestibular-evoked-myogenic-potential
#2
Ting-Hua Yang, Hsin-Lin Chen, Yi-Ho Young
OBJECTIVE: This study investigated the influence of pathological eye movements on the recordings of ocular vestibulo-evoked myogenic potential (oVEMP). METHODS: Ten patients with pathological eye movements of non-vestibular origin (nine congenital nystagmus and one opsoclonus) who had negative MRI result were assigned to Group A. Another 20 vestibular neuritis (VN) patients with spontaneous nystagmus were assigned to Group B. Both groups underwent audiometry, and caloric, oVEMP and cervical VEMP (cVEMP) tests...
March 21, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28320194/acquired-pendular-nystagmus
#3
REVIEW
Sarah Kang, Aasef G Shaikh
Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28317667/small-incision-lenticule-extraction-in-a-patient-with-congenital-nystagmus
#4
Bu Ki Kim, Su Joung Mun, Dae Gyu Lee, Hyun Tae Choi, Young Taek Chung
We report a case of a 23-year-old woman with congenital nystagmus who had small-incision lenticule extraction (SMILE) procedure to correct refractive errors. The manifest refraction was -5.50 -1.75 × 180 in the right eye, -5.0 -2.50 × 180 in the left eye, and the patient presented with horizontal pendular nystagmus with an amplitude range of 5 to 10 degrees. Uneventful simultaneous bilateral small-incision lenticule extraction was performed. Six months postoperatively, the uncorrected distance visual acuity was 20/18 with -0...
January 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28302372/experiences-during-newborn-screening-for-glutaric-aciduria-type-1-diagnosis-treatment-genotype-phenotype-and-outcomes
#5
Fang-Chih Tsai, Han-Jui Lee, An-Guor Wang, Shu-Chen Hsieh, Yung-Hsiu Lu, Ming-Che Lee, Ju-Shan Pai, Tzu-Hung Chu, Chia-Feng Yang, Ting-Rong Hsu, Chih-Jou Lai, Ming-Tzu Tsai, Ping-Hsun Ho, Min-Chieh Lin, Ling-Yee Cheng, Ya-Chin Chuang, Dau-Ming Niu
BACKGROUND: Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest newborn screening population to date. METHODS: Between 2001 and 2015, 1,490,636 newborns were screened for GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients were treated with a low lysine diet, carnitine, and high-energy intake during illness...
March 13, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/28301497/long-term-outcomes-of-ciliary-sulcus-versus-capsular-bag-fixation-of-intraocular-lenses-in-children-an-ultrasound-biomicroscopy-study
#6
Yun-E Zhao, Xian-Hui Gong, Xue-Ning Zhu, He-Ming Li, Meng-Jun Tu, Terry G Coursey, Stephen C Pflugfelder, Feng Gu, Ding Chen
PURPOSE: To evaluate the long-term outcomes of ciliary sulcus versus capsular bag fixation of intraocular lenses (IOLs) in children after pediatric cataract surgery. METHODS: IOL was implanted in the ciliary sulcus in 21 eyes of 14 children, and in the capsular bag in 19 eyes of 12 children for the treatment of pediatric cataract in an institutional setting. Ultrasound biomicroscopy (UBM) was performed. Main outcome measures included IOL decentration, IOL tilt, anterior chamber depth (ACD), angle-opening distance at 500 μm (AOD500), trabecular-iris angle (TIA), best-corrected visual acuity (BCVA), intraocular pressure (IOP), and incidence of postoperative complications...
2017: PloS One
https://www.readbyqxmd.com/read/28298907/mir-21a-5p-contributes-to-porcine-hemagglutinating-encephalomyelitis-virus-proliferation-via-targeting-cask-interactive-protein1-in-vivo-and-vitro
#7
Xiaoling Lv, Kui Zhao, Yungang Lan, Zi Li, Ning Ding, Jingjing Su, Huijun Lu, Deguang Song, Feng Gao, Wenqi He
Porcine hemagglutinating encephalomyelitis virus (PHEV) is a highly neurovirulent coronavirus that can cause nervous symptoms in piglets with muscle tremors, hind limb paralysis, and nystagmus. Whether some factors affect virus replication and proliferation had not been fully understood in the course of nerve damage caused by PHEV infection. In recent years, some reports suggested that miRNA might play a key regulatory role in viral infection. In this study, we found the miR-21a-5p is notably up-regulated in the brains of mice and N2a cells infected with PHEV, and it down-regulated the expression of CASK-interactive protein1 (Caskin1) by directly targeting the 3'-UTR of Caskin1 using a Dual-Luciferase reporter assay...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28289649/hypothermia-presenting-in-wernicke-encephalopathy-a-case-report
#8
Seok Hyun Hong, Ju Sun Oh, Chang Hyun Lee, Jae Ho Oh
Wernicke encephalopathy (WE) is a neurologic disorder characterized by clinical symptoms, such as nystagmus, ataxia, and mental confusion. Hypothermia in patients with WE is a rare complication, and its pathogenic mechanism and therapy are yet to be ascertained. Herein, we presented a case of a 61-year-old man who was diagnosed with WE 3 months earlier. We investigated the cause of hypothermia (35.0℃) that occurred after an enema (bowel emptying). Brain magnetic resonance imaging revealed mammillary body and hypothalamus atrophy...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28288201/optokinetic-nystagmus-reflects-perceptual-directions-in-the-onset-binocular-rivalry-in-parkinson-s-disease
#9
Mana Fujiwara, Catherine Ding, Lisandro Kaunitz, Julie C Stout, Dominic Thyagarajan, Naotsugu Tsuchiya
Optokinetic nystagmus (OKN), the reflexive eye movements evoked by a moving field, has recently gained interest among researchers as a useful tool to assess conscious perception. When conscious perception and stimulus are dissociated, such as in binocular rivalry-when dissimilar images are simultaneously presented to each eye and perception alternates between the two images over time-OKN correlates with perception rather than with the physical direction of the moving field. While this relationship is well established in healthy subjects, it is yet unclear whether it also generalizes to clinical populations, for example, patients with Parkinson's disease...
2017: PloS One
https://www.readbyqxmd.com/read/28288017/task-induced-changes-in-idiopathic-infantile-nystagmus-vary-with-gaze
#10
Marzieh Salehi Fadardi, Arne C Bathke, Solomon W Harrar, Larry Allen Abel
PURPOSE: Investigations of infantile nystagmus syndrome (INS) at center or at the null position have reported that INS worsens when visual demand is combined with internal states, e.g. stress. Visual function and INS parameters such as foveation time, frequency, amplitude, and intensity can also be influenced by gaze position. We hypothesized that increases from baseline in visual demand and mental load would affect INS parameters at the null position differently than at other gaze positions...
March 11, 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/28284887/downbeat-nystagmus-due-to-ranitidine-in-a%C3%A2-pediatric-patient
#11
Laura Butragueño Laiseca, Blanca Toledo Del Castillo, Cristina Rodríguez Jimenez, Silvia Manrique-Rodríguez, Jimena Pérez Moreno
BACKGROUND: Ranitidine has not been considered as a potential cause of ocular movement conditions. However, it is known that the vestibular nucleus complex, that has a key role in gaze control and vestibule-ocular reflexes, receives hypothalamic histaminergic innervations. Some studies reported the effect of ranitidine blocking the excitatory responses of vestibular nuclei neurons to histamine. CASE REPORT: We report the first case of a downbeat nystagmus secondary to ranitidine in an infant...
February 11, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28284856/magnetic-resonance-imaging-findings-in-children-with-spasmus-nutans
#12
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 characterized by nystagmus, head bobbing, and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of this association is based primarily on a small number of isolated case reports. Prior retrospective analyses have found the rate of OPG to be <2%, but these studies only intermittently used neuroimaging with computed tomography, which has limited sensitivity for detection of small lesions in the optic pathway...
March 8, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28273704/-clinical-and-genetic-characteristics-of-children-with-leigh-syndrome
#13
F Fang, Y Shen, D M Shen, Z M Liu, C H Ding, W C Zhang, S Z Sun, J L Lyu, T L Han, X H Wang, W H Zhang, X Y Yang, J W Li, H S Wu
Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children's Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28271407/three-dimensional-eye-movement-recordings-during-magnetic-vestibular-stimulation
#14
Jorge Otero-Millan, David S Zee, Michael C Schubert, Dale C Roberts, Bryan K Ward
Human subjects placed in strong magnetic fields such as in an MRI scanner often feel dizzy or vertiginous. Recent studies in humans and animals have shown that these effects arise from stimulation of the labyrinth and are accompanied by nystagmus. Here, we measured the three-dimensional pattern of nystagmus using video eye tracking in five normal human subjects placed in a 7T MRI to infer which semicircular canals are activated by magnetic vestibular stimulation. We found that the nystagmus usually had a torsional as well as a horizontal component...
March 7, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28271170/acute-vestibular-syndrome-in%C3%A2-cerebellar-stroke-a%C3%A2-case-report-and-review-of-the-literature
#15
V Volgger, R Gürkov
The current paper reports on a patient with recurrent rotational vertigo and persistent dizziness and imbalance lasting several weeks, who underwent extensive neuro-otological and radiological examinations. Pathological findings initially included right-sided benign paroxysmal positional vertigo (BPPV), persistent horizontal spontaneous nystagmus (SPN) to the left, and a pathological bedside and video head impulse test (HIT) on the left. The pathological HIT on the left and the SPN to the left indicated a central origin...
March 7, 2017: HNO
https://www.readbyqxmd.com/read/28260365/-ultrastructural-alteration-of-extraocular-muscle-proprioceptor-in-congenital-idiopathic-nystagmus
#16
C Y Zhang, D Y Bai, Y H Cui, S L Hu, Y Zhang, C Li, L Li
Objective: To explore the ultrastructural alteration of extraocular muscle proprioceptor in congenital idiopathic nystagmus (CIN). Methods: Case-control study. Ten extraocular muscle samples were collected from five CIN children who underwent nystagmus surgeries in Beijing Children's Hospital from March 2015 to March 2016. Another ten extraocular muscle specimens were collected from five strabismus children in surgery at the same period as normal contrast. There were 3 male patients and 2 female patients of CIN with age of 61-147 months (median age: 91 months)...
February 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28259707/clinical-and-molecular-phenotyping-of-a-child-with-hermansky-pudlak-syndrome-7-an-uncommon-genetic-type-of-hps
#17
Melanie M Bryan, Nathanial J Tolman, Karen L Simon, Marjan Huizing, Robert B Hufnagel, Brian P Brooks, Vladislav Speransky, James C Mullikin, William A Gahl, May Christine V Malicdan, Bernadette R Gochuico
PURPOSE: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients with BLOC-1 deficiency (HPS-7, -8, and -9 types) have been diagnosed. We report results of comprehensive clinical testing and molecular analyses of primary fibroblasts from a new case of HPS-7. RESULTS: A 6-year old Paraguayan male presented with hypopigmentation, ocular albinism, nystagmus, reduced visual acuity, and easy bruising...
February 27, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28258876/the-use-of-tissue-plasminogen-activator-in-the-treatment-of-wallenberg-syndrome-caused-by-vertebral-artery-dissection
#18
Alexis Salerno, Bradford V Cotter, Michael E Winters
BACKGROUND: Acute cerebrovascular accident (CVA) is a devastating cause of patient morbidity and mortality. Up to 10% of acute CVAs in young patients are caused by dissection of the vertebral or carotid artery. Wallenberg syndrome results from a CVA in the vertebral or posterior inferior artery of the cerebellum and manifests as various degrees of cerebellar dysfunction. The administration of a thrombolytic medication has been recommended in the treatment of patients with stroke caused by cervical artery dissection...
February 28, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28257458/high-speed-adaptive-optics-line-scan-confocal-retinal-imaging-for-human-eye
#19
Jing Lu, Boyu Gu, Xiaolin Wang, Yuhua Zhang
PURPOSE: Continuous and rapid eye movement causes significant intraframe distortion in adaptive optics high resolution retinal imaging. To minimize this artifact, we developed a high speed adaptive optics line scan confocal retinal imaging system. METHODS: A high speed line camera was employed to acquire retinal image and custom adaptive optics was developed to compensate the wave aberration of the human eye's optics. The spatial resolution and signal to noise ratio were assessed in model eye and in living human eye...
2017: PloS One
https://www.readbyqxmd.com/read/28254538/ocular-manifestation-of-a-cervical-spine-injury-an-adult-case-of-traumatic-atlanto-axial-rotatory-subluxation-presenting-with-nystagmus
#20
Keyvan Eghbal, Nima Derakhshan, Ali Haghighat
No abstract text is available yet for this article.
February 22, 2017: World Neurosurgery
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