Objective: To assess ocular involvement in the pathophysiology of autosomal dominant compelling helio-ophthalmic outburst syndrome (ACHOOs).
Methods: An interview was conducted with a Caucasian family that showed clinical features of ACHOOs. Twelve of them had photic reflex and were recruited. A complete eye evaluation was made.
Results: A dominant autosomal inheritance with mild penetrance was demonstrated, with 67% of the studied subjects showing some degree of prominent corneal nerves. No other eye changes were found.
Conclusions: Prominent corneal nerves may be associated with ACHOOs. The other eye structures studied do not seem to play a role in ACHOOs. Further studies are needed to understand the physiology of the ACHOOs.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.oftal.2016.01.011 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The WHO Disease Outbreak News during the Covid-19 pandemic.
PLOS Glob Public Health
January 2025
Center for Global Health Science and Security, Georgetown University Medical Center, Washington, DC, United States of America.
During the Covid-19 pandemic, the World Health Organization (WHO) was an important public source of information - not only about the pandemic, but also thousands of other potential health emergencies. Here, we examine the 242 reports published in the WHO Disease Outbreak News (DON) during the first four years of the Covid-19 pandemic (2020 to 2023), and document the diseases and regions that were reported. We find that multinational epidemics of diseases like Ebola virus and MERS-CoV continue to dominate the DON.
View Article and Find Full Text PDFSpecies Diversity, Biomass Production and Carbon Sequestration Potential in the Protected Area of Uttarakhand, India.
Plants (Basel)
January 2025
Center for Integrative Conservation, Xishuangbanna Tropical Botanical Garden, Chinese Academy of Sciences, Menglun, Mengla, Jinghong 666303, China.
Ecosystem functioning and management are primarily concerned with addressing climate change and biodiversity loss, which are closely linked to carbon stock and species diversity. This research aimed to quantify forest understory (shrub and herb) diversity, tree biomass and carbon sequestration in the Binsar Wildlife Sanctuary. Using random sampling methods, data were gathered from six distinct forest communities.
View Article and Find Full Text PDFLost opportunities: How gendered arrangements harm men.
Proc Natl Acad Sci U S A
February 2025
Department of Psychology, Princeton University, Princeton, NJ 08540.
Traditional gendered arrangements-norms, roles, prejudices, and hierarchies-shape every human life. Associated harms are primarily framed as women's issues due to more severe consequences women face. Yet, gendered arrangements also shape 's relationships, career paths, and health.
View Article and Find Full Text PDFUnveiling the Werner-Type Cluster Chemistry of Heterometallic 4f/Post-Transition Metals: A {DyBi} Complex Exhibiting Quantum Tunneling Steps in the Hysteresis Loops and its 1-D Congener.
Inorg Chem
January 2025
Department of Chemistry, University of Patras, Patras 265 04, Greece.
A new [DyBiOCl(saph)] () Werner-type cluster has been prepared, which is the first Dy/Bi polynuclear compound with no metal-metal bond and one of the very few Ln-Bi (Ln = lanthanide) heterometallic complexes reported to date. The molecular compound has been deliberately transformed to its 1-D analogue [DyBiO(N)(saph)] () via the replacement of the terminal Cl ions by end-to-end bridging N groups. The overall metallic skeleton of (and ) can be described as consisting of a diamagnetic {Bi} unit with an elongated trigonal bipyramidal topology, surrounded by a magnetic {Dy} equilateral triangle, which does not contain μ-oxo/hydroxo/alkoxo groups.
View Article and Find Full Text PDFRobotic Rigor: Validity of the Kinarm End-Point Robot Visually Guided Reaching Test in Multiple Sclerosis.
Arch Rehabil Res Clin Transl
December 2024
Recovery and Performance Laboratory, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
Objective: To determine whether robotic metrics: (1) correlate with the Nine-Hole Peg Test (9HPT; good convergent validity); and (2) differentiate between those self-reporting "some hand problems" versus "no hand problems" (good criterion validity).
Design: Cross-sectional validation analyses.
Setting: Rehabilitation research laboratory located within a hospital.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!