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Molecular Aspects of Medicine Aug 2023Glaucoma is a common, complex, multifactorial neurodegenerative disease characterized by progressive dysfunction and then loss of retinal ganglion cells, the output... (Review)
Review
Glaucoma is a common, complex, multifactorial neurodegenerative disease characterized by progressive dysfunction and then loss of retinal ganglion cells, the output neurons of the retina. Glaucoma is the most common cause of irreversible blindness and affects ∼80 million people worldwide with many more undiagnosed. The major risk factors for glaucoma are genetics, age, and elevated intraocular pressure. Current strategies only target intraocular pressure management and do not directly target the neurodegenerative processes occurring at the level of the retinal ganglion cell. Despite strategies to manage intraocular pressure, as many as 40% of glaucoma patients progress to blindness in at least one eye during their lifetime. As such, neuroprotective strategies that target the retinal ganglion cell and these neurodegenerative processes directly are of great therapeutic need. This review will cover the recent advances from basic biology to on-going clinical trials for neuroprotection in glaucoma covering degenerative mechanisms, metabolism, insulin signaling, mTOR, axon transport, apoptosis, autophagy, and neuroinflammation. With an increased understanding of both the basic and clinical mechanisms of the disease, we are closer than ever to a neuroprotective strategy for glaucoma.
Topics: Humans; Intraocular Pressure; Neuroprotection; Neurodegenerative Diseases; Glaucoma; Retinal Ganglion Cells; Blindness
PubMed: 37331129
DOI: 10.1016/j.mam.2023.101193 -
Survey of Ophthalmology 2023Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including... (Review)
Review
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic literature search was conducted in electronic databases Pubmed/MEDLINE, EMBACE, and Cochrane Library. We included studies reporting patients with a clinical picture consisting at least 2 typical clinical manifestations of WSF1 disorders and heterozygous mutations in WFS1. In total, 86 patients from 35 studies were included. The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. Nineteen percent developed cataract. Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developing diabetes insipidus, but a younger age at onset of hearing impairment compared to patients with nonsense mutations or deletions causing frameshift. There were no studies reporting decreased life expectancy. This review shows that, within the spectrum of WFS1-associated disorders or "wolframinopathies," autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with the specific underlying mutations in the WFS1 gene.
Topics: Humans; Hearing Loss; Mutation; Optic Atrophy; Tungsten; Wolfram Syndrome
PubMed: 36764396
DOI: 10.1016/j.survophthal.2023.01.012 -
Virology Journal Nov 2023In a randomized trial, Lianhuaqingwen (LHQW) capsule was effective for accelerating symptom recovery among patients with coronavirus disease 2019 (COVID-19). However,... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
In a randomized trial, Lianhuaqingwen (LHQW) capsule was effective for accelerating symptom recovery among patients with coronavirus disease 2019 (COVID-19). However, the lack of blinding and limited sample sizes decreased the level of clinical evidence.
OBJECTIVES
To evaluate the efficacy and safety of LHQW capsule in adults with mild-to-moderate COVID-19.
METHODS
We conducted a double-blind randomized controlled trial in adults with mild-to-moderate COVID-19 (17 sites from China, Thailand, Philippine and Vietnam). Patients received standard-of-care alone or plus LHQW capsules (4 capsules, thrice daily) for 14 days. The primary endpoint was the median time to sustained clinical improvement or resolution of nine major symptoms.
RESULTS
The full-analysis set consisted of 410 patients in LHQW capsules and 405 in placebo group. LHQW significantly shortened the primary endpoint in the full-analysis set (4.0 vs. 6.7 days, hazards ratio: 1.63, 95% confidence interval: 1.39-1.90). LHQW capsules shortened the median time to sustained clinical improvement or resolution of stuffy or runny nose (2.8 vs. 3.7 days), sore throat (2.0 vs. 2.6 days), cough (3.2 vs. 4.9 days), feeling hot or feverish (1.0 vs. 1.3 days), low energy or tiredness (1.3 vs. 1.9 days), and myalgia (1.5 vs. 2.0 days). The duration to sustained clinical improvement or resolution of shortness of breath, headache, and chills or shivering did not differ significantly between the two groups. Safety was comparable between the two groups. No serious adverse events were reported.
INTERPRETATION
LHQW capsules promote recovery of mild-to-moderate COVID-19 via accelerating symptom resolution and were well tolerated. Trial registration ChiCTR2200056727 .
Topics: Adult; Humans; COVID-19; Double-Blind Method; Drugs, Chinese Herbal; Treatment Outcome
PubMed: 38017515
DOI: 10.1186/s12985-023-02144-6 -
Eye (London, England) Apr 2024Over 180,000 Cambodian people are blind and a further 10,000 suffer avoidable blindness each year. Ninety percent of this blindness is avoidable, 79% is curable and 11%... (Review)
Review
Over 180,000 Cambodian people are blind and a further 10,000 suffer avoidable blindness each year. Ninety percent of this blindness is avoidable, 79% is curable and 11% is preventable. Three-quarters of this blindness is due to cataracts and the remainder is due to uncorrected vision, glaucoma, corneal scarring and pterygium. The Khmer Sight Foundation (KSF) is a charity reincarnated by Professor Sunil Shah and Sean Ngu. Its mission is to deliver a sustainable eye care model for the country. KSF takes a three pronged approach to this. It is working to develop sustainable eye-care within the country through building physical infrastructure. The second approach is to impact the current cataract backlog of over 300,000 patients with the aid of international support. Thirdly, KSF is paving the way for the next generation through the development of an optometry education programme and training of Cambodian ophthalmologists. Here we present the workings of KSF, clinical cases we have encountered and elaborate upon the future goals of this charity.
Topics: Humans; Ophthalmology; Cambodia; Cataract; Blindness; Southeast Asian People
PubMed: 38135774
DOI: 10.1038/s41433-023-02846-9