Anti-GQ1b Antibody Syndrome with Visual Impairment: A Retrospective Case Series
Background: Anti-GQ1b antibody syndrome referred to a clinical spectrum characterized by acute onset of ataxia, ophthalmoplegia and areflexia, while visual deterioration was rarely reported in terms of ocular disorders.
Qing Zeng +6 more
doaj +1 more source
An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation [PDF]
Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14).
Shahin Koohmanaee +10 more
doaj
Resolving Neurodevelopmental and Vision Disorders Using Organoid Single-Cell Multi-omics.
Human organoid models of the central nervous system, including the neural retina, are providing unprecedented opportunities to explore human neurodevelopment and neurodegeneration in controlled culture environments.
Giovanna Brancati +2 more
semanticscholar +1 more source
Self-reported hearing loss and visual impairment in adults from Central Mexico
Objective. To determinate the prevalence of hearing loss (HL) and visual impairment (VI) among adult population from Tlaxcala, Mexico. Materials and methods.
Enrique O Graue-Hernández +5 more
doaj +1 more source
Vision loss and psychopathology
Purpose: By examining associations between vision loss and various types of psychopathology within the literature, this manuscript will provide ophthalmologists, psychiatrists, and psychologists insight into the relationships between vision and ...
John R Mark +3 more
doaj +1 more source
Klotho pathways, myelination disorders, neurodegenerative diseases, and epigenetic drugs [PDF]
In this review we outline a rationale for identifying neuroprotectants aimed at inducing endogenous Klotho activity and expression, which is epigenetic action, by definition. Such an approach should promote remyelination and/or stimulate myelin repair by
Chen, Xiaohong +15 more
core +1 more source
To investigate detection vision development in infants and toddlers with congenital disorders of the peripheral visual system (CDPVS) and severe to profound visual impairment (SVI/PVI).
A. Salt +3 more
semanticscholar +1 more source
Use of generic and condition-specific measures of health-related quality of life in NICE decision-making: systematic review, statistical modelling and survey. [PDF]
© Queen’s Printer and Controller of HMSO 2014Background: The National Institute for Health and Care Excellence recommends the use of generic preference-based measures (GPBMs) of health for its Health Technology Assessments (HTAs). However, these data may
Brazier, J +11 more
core +4 more sources
Labview-based FPGA implementation of sensor data acquisition for human body motion measurement [PDF]
Measuring body motion is crucial to identify any abnormal neuromuscular control, biomechanical disorders and injury prevention in various applications such as rehabilitation [1], [2], sport science [3],[4], surveillance [5], and virtual reality [6].
Ahmad, Afandi +4 more
core
Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel) +24 more
core +1 more source

