Successful treatment of central retinal artery occlusion using hyperbaric oxygen therapy

Central retinal artery occlusion (CRAO) is considered an ophthalmologic emergency. The prognosis of this disease is very poor. Currently, there is no generally effective therapy available to treat CRAO. Hyperbaric oxygen therapy (HBOT) can increase the volume of oxygen delivered to the ischemic retinal tissue until spontaneous or assisted reperfusion occurs. We report the case of a patient who experienced sudden visual loss due to CRAO that was treated with HBOT. The patient was an 81-year-old woman who presented with CRAO in her right eye (OD). She exhibited “hand motion” visual acuity before treatment. She underwent three sessions of HBOT at a pressure of 2.8 atmospheres absolute, performed over 3 days. After 4 days in hospital, her visual acuity improved to 0.4 (OD) for far vision and 0.5 (OD) for near vision. Her vision was stable without the supply of oxygen; therefore, she was discharged

Macular Infarction Associated with Reactive Arthritis

A 53-year-old woman visited the Department of Rheumatology with a chief complaint of a 3-day history of fever and chills and also presented with pain occuring in both knees at the time of outpatient visit. Based on rheumatologic and hematological lab studies, ultrasonography, and a needle aspiration biopsy of the articular cavity, the patient was diagnosed with reactive arthritis. On hospitalization day 3, consultation with the Department of Ophthalmology was requested regarding decreased visual acuity lasting for 3 days. Upon ophthalmologic examination, the corrected visual acuity was 0.1 in the right eye and 0.05 in the left eye. Upon slit lamp microscopy, there were no abnormal findings in the anterior segment. Upon fundus examination, however, there were yellow-white lesions in the macular area of both eyes. Fluorescein angiographywas performed to assess the macular lesions, and the findings were suggestive of macular infarction in both eyes. Due to a lack of other underlying disease, a past surgical history, and a past history of drug administration, the patient was diagnosed with macular infarction in both eyes associated with reactive arthritis. To date, there have been no other such cases reported. In a patient with reactive arthritis, we experienced a case of macular infarction in both eyes, which occurred without association with a past history of specific drug use or underlying disease. Herein, we report our case, with a review of the literature

Valsalva Retinopathy Associated With an Oratorical Contest

A 17-year-old man presented to us with a chief complaint of decreased visual acuity accompanied by central scotoma. There was nothing unusual in his medical history other than a recent oratorical contest. At the time of initial diagnosis, the corrected visual acuity was 20/20 in the right eye and 20/100 in the left eye. No significant findings were apparent on ophthalmic evaluation. On fundoscopy, there was a dumbbell-shaped macular bleed with a well-defined margin in the left eye. The clinical course was closely monitored along with drug therapy. Four weeks post presentation, the pre-retinal hemorrhage had nearly resolved. On fluorescein angiography, no significant findings were observed. In the left eye, the corrected visual acuity had improved to 20/25. Valsalva retinopathy is a pathology that occurs when a sudden increase in intra-thoracic pressure or abdominal pressure occurs in an otherwise healthy person. Here we report a case of Valsalva retinopathy occurring following an oratorical contest along with a review of the relevant literature

Conjunctival Expansion Using a Subtenon's Silicone Implant in New Zealand White Rabbits

Purpose: In the field of ophthalmology, the conjunctival autograft is a useful therapeutic material in many cases, but the small size of the autograft is a disadvantage. Therefore, we evaluated the feasibility of taking an expanded sample of conjunctival tissue using a subtenon's silicone implant. Materials and Methods: We included a total of nine rabbits; eight rabbits were operative cases, and one was a control. A portion of conjunctival tissue from the control rabbit, which did not undergo surgery, was dissected and examined to determine whether it was histologically different from the experimental group. The surgical procedure was performed on eight rabbits via a subtenon's insertion of a silicone sponge in the left superior-temporal portion; after surgery, we dropped antibiotics into the eyes. We sacrificed a pair of rabbits every three days (on days 3, 6, 9, and 12) after surgery, remove

Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

BACKGROUND: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery. RESULTS: To expand our understanding of the underlying biological pathways and mechanisms controlling blood lipid levels, we leverage a large multi-ancestry meta-analysis (N = 1,654,960) of blood lipids to prioritize putative causal genes for 2286 lipid associations using six gene prediction approaches. Using phenome-wide association (PheWAS) scans, we identify relationships of genetically predicted lipid levels to other diseases and conditions. We confirm known pleiotropic associations with cardiovascular phenotypes and determine novel associations, notably with cholelithiasis risk. We perform sex-stratified GWAS meta-analysis of lipid levels and show that 3-5% of autosomal lipid-associated loci demonstrate sex-biased effects. Finally, we report 21 novel lipid loci identified on the X chromosome. Many of the sex-biased autosomal and X chromosome lipid loci show pleiotropic associations with sex hormones, emphasizing the role of hormone regulation in lipid metabolism. CONCLUSIONS: Taken together, our findings provide insights into the biological mechanisms through which associated variants lead to altered lipid levels and potentially cardiovascular disease risk

International Consensus Statement on Rhinology and Allergy: Rhinosinusitis

Background: The 5 years since the publication of the first International Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR‐RS) has witnessed foundational progress in our understanding and treatment of rhinologic disease. These advances are reflected within the more than 40 new topics covered within the ICAR‐RS‐2021 as well as updates to the original 140 topics. This executive summary consolidates the evidence‐based findings of the document. Methods: ICAR‐RS presents over 180 topics in the forms of evidence‐based reviews with recommendations (EBRRs), evidence‐based reviews, and literature reviews. The highest grade structured recommendations of the EBRR sections are summarized in this executive summary. Results: ICAR‐RS‐2021 covers 22 topics regarding the medical management of RS, which are grade A/B and are presented in the executive summary. Additionally, 4 topics regarding the surgical management of RS are grade A/B and are presented in the executive summary. Finally, a comprehensive evidence‐based management algorithm is provided. Conclusion: This ICAR‐RS‐2021 executive summary provides a compilation of the evidence‐based recommendations for medical and surgical treatment of the most common forms of RS