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https://www.readbyqxmd.com/read/29449735/alk-positive-adenocarcinoma-of-the-lung-expressing-neuroendocrine-markers-and-presenting-as-a-pituitary-adenoma
#1
M C Mengoli, F Bertolini, M Maur, F Barbieri, L Longo, P Gasparri, M Tiseo, G Rossi
We report an ALK-rearranged adenocarcinoma of the lung presenting as a pituitary metastasis, clinically simulating a pituitary adenoma. The patient, a 50 year-old, former-smoking woman was admitted with a Parinaud's syndrome characterized by progressive oculomotor impairment of visual verticality, bitemporal hemianopsia and nystagmus. Imaging studies showed a sellar tumor and the biopsy revealed a TTF-1 and napsin positive lung adenocarcinoma strongly expressing synaptophysin and CD56, also harboring ALK rearrangement...
December 2017: Pathologica
https://www.readbyqxmd.com/read/29440549/clinical-reasoning-siblings-with-progressive-weakness-hypotonia-nystagmus-and-hearing-loss
#2
Kallol K Set, Amanda R B Weber, Fatema J Serajee, Ahm M Huq
No abstract text is available yet for this article.
February 13, 2018: Neurology
https://www.readbyqxmd.com/read/29433118/-trigeminal-herpes-zoster-presenting-with-high-intensity-signals-for-the-spinal-trigeminal-nucleus-and-tract-on-diffusion-weighted-image-a-case-report-of-stroke-mimic
#3
Takahiro Himeno, Shinichi Takeshima, Satoshi Kubo, Naoyuki Hara, Akio Tanaka, Masaru Kuriyama
A 50-year-old woman was admitted to our hospital with dysesthesia on the right upper portion of her face and a headache. Diffusion-weighted brain magnetic resonance imaging (MRI) revealed high-intensity signals in the dorsolateral portion of the medulla oblongata. She was diagnosed with lateral medullary infarction and was intravenously treated with sodium ozagrel. On the second day of hospitalization, she had nausea and vomiting and showed nystagmus to all directions, suggesting damage to the vestibular nucleus...
February 2018: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29416937/spinocerebellar-ataxia-27-a-review-and-characterization-of-an-evolving-phenotype
#4
REVIEW
Christopher L Groth, Brian D Berman
Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities. SCA27 is a recently identified SCA caused by mutations in the Fibroblast Growth Factor 14 gene, with a phenotypic expression that is only beginning to be fully appreciated. We report here a case of a 70-year-old male who presented with slowly worsening tremor and gait instability that began in his early adulthood along with additional features of parkinsonism on examination...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29412971/upbeat-nystagmus-in-an-hiv-positive-patient-with-a-tuberculoma-in-the-medulla
#5
Benjamin W Coleman, Irini Sereti, Rachel Bishop, Bryan R Smith
No abstract text is available yet for this article.
February 2018: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/29403587/ophthalmologic-findings-in-patients-with-neuro-metabolic-disorders
#6
Narjes Jafari, Karl Golnik, Mansoor Shahriari, Parvaneh Karimzadeh, Sayena Jabbehdari
Purpose: We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Methods: Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. Results: A total of 213 patients with 34 different neuro-metabolic disorders were included...
January 2018: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/29398242/utility-of-neutrophil-to-lymphocyte-ratio-nlr-as-a-predictor-of-acute-infarction-in-new-onset-acute-vertigo-patients-without-neurologic-and-computed-tomography-abnormalities
#7
Sun Hwa Lee, Seong Jong Yun, Seokyong Ryu, Seung Woon Choi, Hye Jin Kim, Tae Kyung Kang, Sung Chan Oh, Suk Jin Cho
BACKGROUND: Neutrophil-to-lymphocyte ratio (NLR) has been used as a predictive marker for various conditions. However, there are no previous studies about NLR as a prognostic marker for acute infarction. OBJECTIVE: To evaluate the potential utility of NLR as a predictor of acute infarction in acute vertigo patients without neurologic and computed tomography (CT) abnormalities. METHODS: We conducted a prospective, observational study in the Emergency Department (ED) between January 2015 and December 2016...
February 1, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29395663/atp1a3-related-epileptic-encephalopathy-responding-to-ketogenic-diet
#8
Tommaso Schirinzi, Federica Graziola, Raffaella Cusmai, Lucia Fusco, Francesco Nicita, Mirella Elia, Lorena Travaglini, Enrico Bertini, Paolo Curatolo, Federico Vigevano, Alessandro Capuano
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease caused by mutations in ATP1A3 gene codifying for alpha3 subunit of Na+-K+ ATPase pump. Repeated and transient attacks of hemiplegia, usually affecting one side of the body or the other, or both sides of the body at once, are the core features of AHC. Monocular nystagmus, other abnormalities in ocular movements, dystonic posturing and epilepsy are commonly associated to AHC. However, the spectrum of ATP1A3 related diseases is still expanding and new phenotypes have been reported...
January 26, 2018: Brain & Development
https://www.readbyqxmd.com/read/29391077/cerebral-manifestations-of-mitochondrial-disorders
#9
Josef Finsterer, Elmano Henrique Torres de Carvalho
This review aims at summarizing and discussing previous and recent findings concerning the cerebral manifestations of mitochondrial disorders (MIDs). MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) either already at onset or later in the course. After the muscle, the brain is the organ second most frequently affected in MIMODS. Cerebral manifestations of MIDs are variable and may present with or without a lesion on imaging or functional studies, but there can be imaging/functional lesions without clinical manifestations...
November 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29390235/-overview-of-congenital-stationary-night-blindness-with-predominantly-normal-fundus-appearance
#10
Christina Zeitz, Christoph Friedburg, Markus N Preising, Birgit Lorenz
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of non-progressive retinal disorder with largely normal fundus appearance. The mode of inheritance can be autosomal dominant (adCSNB), autosomal recessive (arCSNB) or X-chromosomal (XLCSNB). Additional ocular signs can be myopia, hyperopia, strabismus, nystagmus and reduced visual acuity. The Riggs and Schubert-Bornschein form of CSNB can be discriminated by electroretinography. While the Riggs form represents a dysfunction of the rods, a signal transmission defect from photoreceptors to bipolar cell is described in patients with the more frequently occurring Schubert-Bornschein form...
February 1, 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29388673/expanding-the-clinical-and-genetic-spectra-of-nkx6-2-related-disorder
#11
C Baldi, A M Bertoli-Avella, N Al-Sannaa, M Alfadhel, K Al-Thilhi, S Alameer, A A Elmonairy, A M Al Shamsi, H A Abdelrahman, L Al-Gazali, A Shawli, F Al Hakami, H Yavuz, K K Kandaswamy, A Rolfs, O Brandau, P Bauer
Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system, and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Using whole exome or whole genome sequencing, we identified the previously reported c.196delC and c.487C>G variants in NKX6-2 in three and two unrelated index cases, respectively; the novel c.608G>A variant was identified in a sixth patient...
February 1, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29388319/clinical-heterogeneity-of-mitochondrial-nad-kinase-deficiency-caused-by-a-nadk2-start-loss-variant
#12
Daniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, David N Cooper, Tyler Reimschisel, Amy Robertson, Anna Bican, Tracy McGregor, Jackie Gauthier, David S Millington, Jaime L W Andrae, Michael R Tschannen, Daniel C Helbling, Wendy M Demos, Simone Denis, Ronald J A Wanders, John N Newman, Rizwan Hamid, John A Phillips
Mitochondrial NAD kinase deficiency (NADK2D, OMIM #615787) is a rare autosomal recessive disorder of NADPH biosynthesis that can cause hyperlysinemia and dienoyl-CoA reductase deficiency (DECRD, OMIM #616034). NADK2 deficiency has been reported in only three unrelated patients. Two had severe, unremitting disease; one died at 4 months and the other at 5 years of age. The third was a 10 year old female with CNS anomalies, ataxia, and incoordination. In two cases mutations in NADK2 have been demonstrated. Here, we report the fourth known case, a 15 year old female with normal intelligence and a mild clinical and biochemical phenotype presumably without DECRD...
February 1, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29386880/human-l-and-m-opsins-restore-m-cone-function-in-a-mouse-model-for-human-blue-cone-monochromacy
#13
Wen-Tao Deng, Jie Li, Ping Zhu, Vince A Chiodo, W Clay Smith, Beau Freedman, Wolfgang Baehr, Jijing Pang, William W Hauswirth
Purpose: Blue cone monochromacy (BCM) is an X-linked congenital vision disorder characterized by complete loss or severely reduced L- and M-cone function. Patients with BCM display poor visual acuity, severely impaired color discrimination, myopia, nystagmus, and minimally detectable cone-mediated electroretinogram. Recent studies of patients with BCM with adaptive optics scanning laser ophthalmoscopy (AOSLO) showed that they have a disrupted cone mosaic with reduced numbers of cones in the fovea that is normally dominated by L- and M-cones...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29384562/characteristics-and-long-term-follow-up-of-isolated-vertical-nystagmus-in-infancy
#14
Imran Jivraj, Shannon J Beres, Grant T Liu
PURPOSE: To determine the clinical characteristics and long-term outcomes of infants who presented with isolated vertical nystagmus. METHODS: The medical records of 114 infants who were diagnosed as having nystagmus from 1996 to 2016 were screened. Patients with vertical nystagmus within the first year of life who had unremarkable magnetic resonance imaging of the brain and demonstrated age-appropriate visual behavior were included. The parents of patients in the final study cohort were contacted by telephone to obtain long-term follow-up information...
January 31, 2018: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29380764/identification-of-a-novel-frameshift-mutation-in-pax6-gene-and-the-clinical-management-in-an-asian-indian-aniridia-family
#15
Isham Palayil, S G Priya, N V Sarath Sivan, Nivean Madhivanan, Panneer Selvam Venkatachalam, Madhavan Jagadeesan
PURPOSE: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. METHODS: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. RESULTS: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis...
February 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29380161/cerebellar-involvement-in-patients-withprimary-sj%C3%A3-gren-s-syndrome-diagnosis-and-treatment
#16
Huaxia Yang, Yinghao Sun, Lidan Zhao, Xuan Zhang, Fengchun Zhang
The aim of this study is to describe the clinical features of cerebellar involvement in patients with primary Sjögren's syndrome (pSS). We retrospectively analyzed the manifestations, treatments, and outcomes in patients with pSS-cerebellar complication in Peking Union Medical College Hospital and cases reported in literature. Altogether 13 patients were identified. They were 2 males and 11 females with a mean age at disease onset of 45.2 ± 14.6 years. Nine (69.2%) patients went to the clinic because of ataxia, and pSS was not suspected until accidental screening for autoantibodies...
January 29, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29373699/characteristics-and-mechanism-of-apogeotropic-central-positional-nystagmus
#17
Jeong-Yoon Choi, Stefan Glasauer, Ji Hyun Kim, David S Zee, Ji-Soo Kim
Here we characterize persistent apogeotropic type of central positional nystagmus, and compare it with the apogeotropic nystagmus of benign paroxysmal positional vertigo involving the lateral canal. Nystagmus was recorded in 27 patients with apogeotropic type of central positional nystagmus (22 with unilateral and five with diffuse cerebellar lesions) and 20 patients with apogeotropic nystagmus of benign paroxysmal positional vertigo. They were tested while sitting, while supine with the head straight back, and in the right and left ear-down positions...
January 24, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29368226/lateral-medullary-infarction-with-cardiovascular-autonomic-dysfunction-an-unusual-presentation-with-review-of-the-literature
#18
REVIEW
Tridu R Huynh, Barbara Decker, Timothy J Fries, Ajay Tunguturi
PURPOSE: We report an unusual case of lateral medullary infarction presenting with orthostatic hypotension with pre-syncope without vertigo or Horner's syndrome. METHODS: Case report with review of the literature. RESULTS: A 67-year-old man presented with pre-syncope and ataxia without vertigo. Initial brain CT and MRI were normal. Neurological evaluation revealed right-beating nystagmus with left gaze, vertical binocular diplopia, right upper-extremity dysmetria, truncal ataxia with right axial lateropulsion, and right-facial and lower extremity hypoesthesia...
January 24, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29362817/-superior-canal-dehiscence-syndrome-diagnosis-with-vestibular-evoked-myogenic-potentials-and-fremitus-nystagmus-german-version
#19
R Gürkov, C Jerin, W Flatz, R Maxwell
BACKGROUND: Superior canal dehiscence syndrome (SCDS) is a relatively rare neurotological disorder that is characterized by a heterogeneous clinical picture. Recently, vestibular evoked myogenic potential (VEMP) measurementwas established for the diagnosis of SCDS. In the present study, a case series of patients with SCDS were analyzed, with a focus on VEMP. METHODS: Four patients with SCDS were prospectively examined with ocular VEMP (oVEMP) and cervical VEMP (cVEMP)...
January 23, 2018: HNO
https://www.readbyqxmd.com/read/29362773/nystagmus-and-platinum-hair
#20
Maria Fernanda Abalem, P Kumar Rao, Rajesh C Rao
No abstract text is available yet for this article.
January 23, 2018: JAMA: the Journal of the American Medical Association
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