Results 101 to 110 of about 18,047 (247)

Peripheral (Vestibular) and Central (Gaze-Evoked) Patterns of Nystagmus in a Single Patient [PDF]

, 2018
A 55-year-old man experienced episodic vertigo and was diagnosed with Meniere\u27s disease affecting the left ear (based on audiograms and his clinical course) about 1 year prior to presentation.
Roksolyana Tourkevich, MD; Daniel R. Gold, DO
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The prevalence of strabismus types in strabismic Iranian patients

Clinical Optometry, 2018
Masoud Khorrami-Nejad,1 Mohamad Reza Akbari,2 Bahram Khosravi1 1Department of Optometry, Faculty of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Eye Research Center, Farabi Eye Hospital, Tehran University of Medical ...
Khorrami-Nejad M, Akbari MR, Khosravi B
doaj  

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Vestibular Neuritis with + Head Impulse Test and Unidirectional Nystagmus (Figure 1) [PDF]

, 2017
Vestibular neuritis is the most common cause of the acute vestibular syndrome, which is characterized by continuous vertigo and spontaneous nystagmus lasting days. It may be mimicked by central causes, including stroke, but in the hands of subspecialists,
Tony Brune, DO; Daniel R. Gold, DO
core  

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, EarlyView.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Parinaud\u27s Syndrome or Dorsal Midbrain Syndrome [PDF]

, 1991
Also known as the pretectal, or sylvian aqueduct syndromes, it is characterized by paralysis of upgaze to both saccades and pursuit. In this video, the causes of Parinaud\u27s, along with its signs of large pupils with light-near dissociation, spastic ...
Robert B. Daroff, MD
core  

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Significance of Systemic Immune‐Inflammation and Inflammatory Response Indices in Vestibular Neuritis

Clinical Otolaryngology, EarlyView.
ABSTRACT Introduction This study investigated the relationship between vestibular neuritis and various systemic inflammatory indices—namely, neutrophil‐to‐lymphocyte ratio (NLR), platelet‐to‐lymphocyte ratio (PLR), monocyte‐to‐lymphocyte ratio (MLR), systemic immune‐inflammation index (SII), and systemic inflammation response index (SIRI) and the ...
Tuğba Tulacı, Mustafa Utku Akbaş, Hasan Çanakçı, Tarık Yetişir, Kamil Gökçe Tulacı, Haşmet Yazıcı, Gulendam Kayıkçı, Omer Hizli   +7 more
wiley   +1 more source

Walsh & Hoyt: General Concepts and Clinical Approach [PDF]

, 2005
This chapter concerns abnormal eye movements that disrupt steady fixation and thereby degrade vision. We now know a good deal about the normal anatomy, physiology, and pharmacology of ocular motor control.
John R. Leigh, MD; Janet C. Rucker, MD
core