ShangPharma Innovation, Inc., South San Francisco, California.
Published: December 2017
AI Article Synopsis
Article Abstract
Eye disease is one of the primary medical conditions that requires attention and therapeutic intervention in ageing populations worldwide. Further, the global burden of diabetes and obesity, along with heart disease, all lead to secondary manifestations of ophthalmic distress. Therefore, there is increased interest in developing innovative new approaches that target various mechanisms and sequelae driving conditions that result in adverse vision. The research challenge is even greater given that the terrain of eye diseases is difficult to landscape into a single therapeutic theme. This report addresses the burden of eye disease due to mitochondrial dysfunction, including antioxidant, autophagic, epigenetic, mitophagic, and other cellular processes that modulate the biomedical end result. In this light, we single out lipoic acid as a potent known natural activator of these pathways, along with alternative and potentially more effective conjugates, which together harness the necessary potency, specificity, and biodistribution parameters required for improved therapeutic outcomes.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
Microglia play important roles in maintaining homeostasis and immunoreactive defense in the central nervous system including retina. To accomplish such a wide range of functions, microglia are highly heterogeneous. Dark microglia (DM) were recently identified by electron microscopy (EM).
Background: Variants in have been reported to be associated with Leigh syndrome. However, further expansion of the -phenotype and variants spectrum of -related Leigh syndrome are still required.
Methods: Two patients diagnosed with Leigh syndrome were recruited, and whole-exome sequencing was performed to identify the genetic variants responsible for the abnormal gait, dystonia, and bilateral basal ganglia lesions, followed by validation using Sanger sequencing.
Background: Both rhabdomyosarcoma (RMS) and central retinal artery occlusion (CRAO) are rare medical diseases, and their simultaneous occurrence in the same patient is extraordinarily uncommon. This study presents a comprehensive overview of the clinical manifestations, diagnostic imaging results, and therapeutic interventions of a patient with both conditions.
Case Summary: In this report, we present a 30-year-old male who presented with significant protrusion, pain and vision loss and was diagnosed with RMS in the orbit and sinus with CRAO.
Avian haemosporidian parasites and avian pox virus (APV) are well-known pathogens for their impact on avian populations, especially in oceanic islands where introduced pathogens show strong virulence for endemic and naïve birds. The Bonin Islands are a group of oceanic islands 1000 km south of Tokyo. Like the Hawaiian Islands, there are many endemic and endangered species as well as introduced species, which have greatly affected the native avian fauna.
