Long-term outcomes of pediatric traumatic cataracts and retinal detachments due to self-inflicted injuries.
CONCLUSION: Traumatic cataracts and retinal detachments due to self-inflicted injury may cause severe visual loss. Visual prognosis although poor in children with severe intellectual disabilities may be optimized with risk awareness for early detection and customized interventions. PMID: 32452266 [PubMed - as supplied by publisher]
ConclusionTwo novel likely pathogenic mutations (c.255+1G>T and c.1561dupA) were reported in our study. The 1263+1G>A mutation was commonly seen in Chinese reported case series (7/25, 28%) and could be a latent hotspot for Chinese CTX mutations. Our study expanded the mutation spectrum of CYP27A1 gene and provide an insightful view of the phenotypic spectrum and genetic characteristics to help early diagnosis and treatment with to improve neurologic dysfunction.
CONCLUSIONS: We were unable to identify any eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on randomised controlled studies. However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate. PMID: 32567677 [PubMed - in process]
Fight Aging! publishes news and commentary relevant to the goal of ending all age-related disease, to be achieved by bringing the mechanisms of aging under the control of modern medicine. This weekly newsletter is sent to thousands of interested subscribers. To subscribe or unsubscribe from the newsletter, please visit: https://www.fightaging.org/newsletter/ Longevity Industry Consulting Services Reason, the founder of Fight Aging! and Repair Biotechnologies, offers strategic consulting services to investors, entrepreneurs, and others interested in the longevity industry and its complexities. To find out m...
Many aspects of aging correlate with one another, even those with quite different underlying mechanisms and proximate causes. The various forms of root cause damage that result in the aging process, as well as their downstream consequences, all interact with one another. So whether or not any specific correlation teaches us anything about the way in which aging works under the hood is very dependent on the details. That loss of vision and hearing correlate with dementia risk is known, but the relative contribution of different mechanisms is up for debate. How much is due to similar biochemical mechanisms of damage in nervo...
CONCLUSIONS: Secondary prevention of visual disability due to retinopathy is currently the sole purpose of national eye screening programmes globally. However, the rarity of treatment-requiring retinopathy in children/young people living with diabetes, alongside growing concerns about suboptimal screening uptake, merit new consideration of the utility of screening for primary prevention of diabetes-related morbidity by using the screening event and findings as a catalyst for better diabetes self-management. PMID: 32536608 [PubMed - as supplied by publisher]
This study includes the measures of self-reported PA (International Physical Activity Questionnaire) and self-rated vision at three points in time over a 6-year period used in the Irish Longitudinal study of Ageing, a cohort of community-dwelling older adults (50 years or older). A path analysis found that PA was indirectly associated with vision over 6 years controlling for age, sex, marital status, employment, education, depression (Centre for Epidemiologic Studies Depression Scale), self-reported general health, cardiovascular disease (e.g., heart attack), high blood pressure, diabetes, eye disease (e.g., glau...
We present a variety of recent studies describing novel treatment methods and diagnostic techniques, as well as IOL exchange techniques.
ConclusionsOur study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A>G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging.
In this study, we used RNA sequencing (RNA-seq) to obtain transcriptome profiles in LS and control neural progenitor cells (NPCs).ResultsIn a comparison of the patient and control NPCs (n = 3), we found 16 differentially expressed genes (DEGs) at the multiple test adjustedp value (padj)