Rare genetic cerebrotendinous xanthomatosis cases (CTX) without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.
Cerebrotendinous xanthomatosis (CTX) is a rare disease attributed to partial or complete loss of the enzyme sterol-27-hydroxylase leading to chenodeoxycholic acid and cholic acid production deficiency, and accumulation of sterol intermediates, mainly cholestanol, in plasma and in several other tissues. The clinical phenotype of CTX greatly varies among patients and includes tendon xanthomas, gallbladder stones, diarrhea, cataracts, and neurological abnormalities 1. The diagnostic identification typically is characterized by an elevated level of plasma cholestanol and identification of CYP27A1 gene variants. (Source: Journa...
Source: Journal of Clinical Lipidology - April 22, 2024 Category: Lipidology Authors: Renato Jorge Alves, Val éria Sutti Nunes, Ney Carter do Carmo Borges Junior, Edna Regina Nakandakare, Eder Carlos Rocha Quintão Tags: Case Study Source Type: research
Corneal fibrosis: From in vitro models to current and upcoming drug and gene medicines
Adv Drug Deliv Rev. 2024 Apr 18:115317. doi: 10.1016/j.addr.2024.115317. Online ahead of print.ABSTRACTFibrotic diseases are characterised by myofibroblast differentiation, uncontrolled pathological extracellular matrix accumulation, tissue contraction, scar formation and, ultimately tissue / organ dysfunction. The cornea, the transparent tissue located on the anterior chamber of the eye, is extremely susceptible to fibrotic diseases, which cause loss of corneal transparency and are often associated with blindness. Although topical corticosteroids and antimetabolites are extensively used in the management of corneal fibros...
Source: Advanced Drug Delivery Reviews - April 20, 2024 Category: Drugs & Pharmacology Authors: Laura Trujillo Cubillo Mehmet Gurdal Dimitrios I Zeugolis Source Type: research
Proteomic characteristics of the aqueous humor in Uyghur patients with pseudoexfoliation syndrome and pseudoexfoliative glaucoma
In conclusion, this study provides new information for understanding the proteomics of AH in PEX and PEXG.PMID:38642601 | DOI:10.1016/j.exer.2024.109903 (Source: Experimental Eye Research)
Source: Experimental Eye Research - April 20, 2024 Category: Opthalmology Authors: Zhao Xu Yin Ke Qiang Feng Ayiguzaili Tuerdimaimaiti Dandan Zhang Lijie Dong Aihua Liu Source Type: research
Risk factors for complications in resident-performed cataract surgery: A systematic review
We assess risk factors for complications associated with resident-performed cataract surgery. Using the Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines, we searched 4databases in September, 2023. We included peer-reviewed, full-text, English-language articles assessing risk factors for complications in resident performed cataract surgery. We excluded studies describing cataract surgeries performed by fellows, combined surgeries, and studies with insufficient information. (Source: Survey of Ophthalmology)
Source: Survey of Ophthalmology - April 20, 2024 Category: Opthalmology Authors: Chaerim Kang, Matthew J. Lee, Amy Chomsky, Thomas A Oetting, Paul B Greenberg Tags: Review article Source Type: research
The Better Operative Outcomes Software Tool (BOOST) Prospective Study: Improving the Quality of Cataract Surgery Outcomes in Low-Resource Settings
. (Source: Ophthalmic Epidemiology)
Source: Ophthalmic Epidemiology - April 18, 2024 Category: Opthalmology Authors: Myra B. McGuinnessElise MooBeatrice VargaSarity DodsonVan Charles LansinghSerge ResnikoffElena SchmidtThulasiraj RavillaGanesh-Babu Balu SubburamanRohit C. KhannaVarsha M. RathiSimon ArungaHans LimburgNathan Congdona Centre for Eye Research Australia, Roy Source Type: research
Comparative efficacy and safety of all kinds of intraocular lenses in presbyopia-correcting cataract surgery: a systematic review and meta-analysis
To assess the efficacy and safety of various intraocular lenses (IOLs), including standard monofocal, bifocal, trifocal, extended depth of focus (EDOF), and enhanced monofocal IOLs, post-cataract surgery throu... (Source: BMC Ophthalmology)
Source: BMC Ophthalmology - April 16, 2024 Category: Opthalmology Authors: Jinyu Li, Bin Sun, Yuexin Zhang, Yansong Hao, Ze Wang, Chengjiang Liu and Shanhao Jiang Tags: Research Source Type: research
Identification of a circulating three-miRNA panel for the diagnosis of primary open angle glaucoma
ConclusionsIn conclusion, we built and identified a circulating three-miRNA panel as a potential diagnostic biomarker for POAG. It may be developed into an efficient assay and help improve the POAG diagnosis in the future. (Source: International Ophthalmology)
Source: International Ophthalmology - April 15, 2024 Category: Opthalmology Source Type: research
Low-dose pulsed vs standard pulsed fluoroscopy during ERCP to reduce radiation without change in image quality: Prospective randomized study
Conclusions Low-dose pulsed fluoroscopy is a reliable method that substantially reduces radiation without compromising image quality or affecting procedure or fluoroscopy times. This underscores the need for standardization in ERCP fluoroscopy settings to limit radiation exposure. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Endoscopy International Open)
Source: Endoscopy International Open - April 15, 2024 Category: Gastroenterology Authors: Ali, Osman Kesar, Varun Alizadeh, Madeline Kalachi, Kourosh Twery, Benjamin Wellnitz, Nicholas Kim, Raymond Eunho Goldberg, Eric Uradomo, Lance T Darwin, Peter E Tags: Original article Source Type: research
Examining the Correlation of Lymphangiogenesis Biomarkers with Clinical Condition in Age-Related Macular Degeneration (AMD)
Exp Eye Res. 2024 Apr 12:109891. doi: 10.1016/j.exer.2024.109891. Online ahead of print.ABSTRACTThe aim of this study is to investigate the relationship between age-related macular degeneration (AMD) and lymphangiogenesis biomarkers, namely LYVE-1, Podoplanin, VEGF-C, VEGFR-2 and VEGFR-3. This prospective and interventional study includes 30 patients with AMD which may be dry or wet type and 30 controls for whom vitrectomy and phacoemulsification was indicated due to additional pathologies (epiretinal membrane, macular hole, retinal detachment, and cataract). 0.1-0,2 ml of aqueous humor and 0.5-1 ml of vitreous sample was ...
Source: Experimental Eye Research - April 14, 2024 Category: Opthalmology Authors: Bagim Aycin Cakir Ince Murat Kucukevcilioglu Cigdem Yucel Ali Hakan Durukan Source Type: research
The significance of precisely regulating heme oxygenase-1 expression: Another avenue for treating age-related ocular disease?
Ageing Res Rev. 2024 Apr 12:102308. doi: 10.1016/j.arr.2024.102308. Online ahead of print.ABSTRACTAging entails the deterioration of the body's organs, including overall damages at both the genetic and cellular levels. The prevalence of age-related ocular disease such as macular degeneration, dry eye diseases, glaucoma and cataracts is increasing as the world's population ages, imposing a considerable economic burden on individuals and society. The development of age-related ocular disease is predominantly triggered by oxidative stress and chronic inflammatory reaction. Heme oxygenase-1 (HO-1) is a crucial antioxidant that...
Source: Ageing Research Reviews - April 14, 2024 Category: Genetics & Stem Cells Authors: Dong Wei ChengKang Qu Na Zhao SiYu Li Ning Pu Ye Tao ZongMing Song Source Type: research
Examining the Correlation of Lymphangiogenesis Biomarkers with Clinical Condition in Age-Related Macular Degeneration (AMD)
Exp Eye Res. 2024 Apr 12:109891. doi: 10.1016/j.exer.2024.109891. Online ahead of print.ABSTRACTThe aim of this study is to investigate the relationship between age-related macular degeneration (AMD) and lymphangiogenesis biomarkers, namely LYVE-1, Podoplanin, VEGF-C, VEGFR-2 and VEGFR-3. This prospective and interventional study includes 30 patients with AMD which may be dry or wet type and 30 controls for whom vitrectomy and phacoemulsification was indicated due to additional pathologies (epiretinal membrane, macular hole, retinal detachment, and cataract). 0.1-0,2 ml of aqueous humor and 0.5-1 ml of vitreous sample was ...
Source: Experimental Eye Research - April 14, 2024 Category: Opthalmology Authors: Bagim Aycin Cakir Ince Murat Kucukevcilioglu Cigdem Yucel Ali Hakan Durukan Source Type: research
The significance of precisely regulating heme oxygenase-1 expression: Another avenue for treating age-related ocular disease?
Ageing Res Rev. 2024 Apr 12:102308. doi: 10.1016/j.arr.2024.102308. Online ahead of print.ABSTRACTAging entails the deterioration of the body's organs, including overall damages at both the genetic and cellular levels. The prevalence of age-related ocular disease such as macular degeneration, dry eye diseases, glaucoma and cataracts is increasing as the world's population ages, imposing a considerable economic burden on individuals and society. The development of age-related ocular disease is predominantly triggered by oxidative stress and chronic inflammatory reaction. Heme oxygenase-1 (HO-1) is a crucial antioxidant that...
Source: Ageing Research Reviews - April 14, 2024 Category: Genetics & Stem Cells Authors: Dong Wei ChengKang Qu Na Zhao SiYu Li Ning Pu Ye Tao ZongMing Song Source Type: research
Examining the correlation of lymphangiogenesis biomarkers with clinical condition in Age-Related Macular Degeneration (AMD)
Exp Eye Res. 2024 Apr 13;243:109891. doi: 10.1016/j.exer.2024.109891. Online ahead of print.ABSTRACTThe aim of this study is to investigate the relationship between age-related macular degeneration (AMD) and lymphangiogenesis biomarkers, namely LYVE-1, Podoplanin, VEGF-C, VEGFR-2 and VEGFR-3. This prospective and interventional study includes 30 patients with AMD which may be dry or wet type and 30 controls for whom vitrectomy and phacoemulsification was indicated due to additional pathologies (epiretinal membrane, macular hole, retinal detachment, and cataract). 0.1-0,2 ml of aqueous humor and 0.5-1 ml of vitreous sample ...
Source: Experimental Eye Research - April 14, 2024 Category: Opthalmology Authors: Bagim Aycin Cakir Ince Murat Kucukevcilioglu Cigdem Yucel Ali Hakan Durukan Source Type: research
