The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
Conclusion: We found that aside from the association with overweight and obesity, heterozygous BBS mutations did not appear to increase the predisposition of individuals to comorbidities and metabolic diseases. To gain a more comprehensive understanding of the genetic susceptibility associated with Bardet-Biedl Syndrome (BBS), further research is warranted.PMID:38617006 | PMC:PMC11008491 | DOI:10.7150/ijms.92766 (Source: International Journal of Medical Sciences)
Source: International Journal of Medical Sciences - April 15, 2024 Category: Biomedical Science Authors: Meng-Hua Li I-Chieh Chen Hui-Wen Yang Hsin-Chien Yen Yung-Chieh Huang Chia-Chi Hsu Yi-Ming Chen Yu-Yuan Ke Source Type: research
Social history and glaucoma progression: the effect of body mass index, tobacco and alcohol consumption on the rates of structural change in patients with glaucoma
CONCLUSIONS: In a large clinical population with glaucoma, habits of tobacco and alcohol consumption showed no significant effect on the rates of RNFL change. Higher BMI was significantly associated with slower rates of RNFL loss.PMID:38621956 | DOI:10.1136/bjo-2023-323186 (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - April 15, 2024 Category: Opthalmology Authors: Asmaa A Youssif Ndidi-Amaka Onyekaba Rizul Naithani Khaled Abdelazeem Ahmed M Fathalla Mohamed S Abdel-Rhaman Alessandro A Jammal Felipe A Medeiros Source Type: research
Ischemic and Inflammatory Ocular Adverse Events Following Different Types of Vaccination for COVID-19, and Their Incidence Analysis
CONCLUSION: OAEs can be observed shortly after the COVID-19 vaccination, and their category was different based on the types of vaccine. The information and incidence of OAE based on the type of vaccine can help monitor patients who were administered the COVID-19 vaccine.PMID:38622066 | DOI:10.3341/kjo.2023.0090 (Source: Korean Journal of Ophthalmology : KJO)
Source: Korean Journal of Ophthalmology : KJO - April 15, 2024 Category: Opthalmology Authors: Eoi Jong Seo Moon Sun Jung Kibum Lee Kyung Tae Kim Mi Young Choi Source Type: research
The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
Conclusion: We found that aside from the association with overweight and obesity, heterozygous BBS mutations did not appear to increase the predisposition of individuals to comorbidities and metabolic diseases. To gain a more comprehensive understanding of the genetic susceptibility associated with Bardet-Biedl Syndrome (BBS), further research is warranted.PMID:38617006 | PMC:PMC11008491 | DOI:10.7150/ijms.92766 (Source: International Journal of Medical Sciences)
Source: International Journal of Medical Sciences - April 15, 2024 Category: Biomedical Science Authors: Meng-Hua Li I-Chieh Chen Hui-Wen Yang Hsin-Chien Yen Yung-Chieh Huang Chia-Chi Hsu Yi-Ming Chen Yu-Yuan Ke Source Type: research
Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
ConclusionOur findings represent the first use of third-generation sequencing (TGS) to identify novelBEST1 mutations in patients with ARB, indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes. The novel variants identified further broaden the mutation spectrum ofBEST1 in the Chinese population. (Source: Journal of Huazhong University of Science and Technology -- Medical Sciences --)
Source: Journal of Huazhong University of Science and Technology -- Medical Sciences -- - April 15, 2024 Category: Research Source Type: research
Molecules, Vol. 29, Pages 1789: Artemisinin Confers Cytoprotection toward Hydrogen Peroxide-Induced Cell Apoptosis in Retinal Pigment Epithelial Cells in Correlation with the Increased Acetylation of Histone H4 at Lysine 8
In conclusion, these results confirmed our hypothesis and indicated that Artemisinin attenuated H2O2-induced apoptosis in apparent correlation with the increase in the Acetyl-H4 (Lys 8) level, which is associated with gene transcription and cell survival. By modulating histone acetylation, Artemisinin may restore the balance between acetylation and deacetylation and enhance the resistance and survival of RPE cells under oxidative stress. Our study provides novel mechanistic insights into the effect of Artemisinin on histone acetylation and apoptosis in RPE cells and supports the potential application of Artemisinin in the ...
Source: Molecules - April 15, 2024 Category: Chemistry Authors: Chao Yang Lijun Ge Xiyong Yu Philip Lazarovici Wenhua Zheng Tags: Article Source Type: research
Drug Treatment Attenuates Retinal Ganglion Cell Death by Inhibiting Collapsin Response Mediator Protein 2 Phosphorylation in Mouse Models of Normal Tension Glaucoma
This study evaluated the impact of the natural compounds huperzine A (HupA) and naringenin (NAR), which have therapeutic effects against glutamate excitotox icity and oxidative stress, on inhibiting CMRP2 phosphorylation in mice intravitreally injected withN-methyl-d-aspartate (NMDA) and GLAST mutant mice. Results of the study demonstrated that HupA and NAR significantly reduced RGC degeneration and thinning of the inner retinal layer, and inhibited the elevated CRMP2 phosphorylation. These treatments protected against glutamate excitotoxicity and suppressed oxidative stress, which could provide insight into developing new...
Source: NeuroMolecular Medicine - April 15, 2024 Category: Neurology Source Type: research
Ophthalmic features of Lamb-Shaffer syndrome: a case series
We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. (Source: Journal of AAPOS)
Source: Journal of AAPOS - April 15, 2024 Category: Opthalmology Authors: Yoav Glidai, Moe H. Aung, Jane Edmond, Linda Lawrence, G. Vike Vicente, Sylvia R. Kodsi Tags: Short Report Source Type: research
Comparison of macular and optic disc vessel density in thyroid orbitopathy: a comparative octa study
ConclusionActive TO group had lower vessel density than inactive group and after treatment, vessel density was increased. Non-invasive quantitative analysis of retinal and optic disc perfusion using OCTA could be useful in early treatment before complications occur and monitoring patients with TO. (Source: International Ophthalmology)
Source: International Ophthalmology - April 15, 2024 Category: Opthalmology Source Type: research
Ocular manifestations of liver disease: an important diagnostic aid
ConclusionsBuilding strong associations between ocular and liver pathology will allow for early detection of such conditions, leading to the early implementation of management strategies. While this review outlines several of the existing connections between hepatic and ophthalmic disease, further research is needed in the area in order to strengthen these associations. (Source: International Ophthalmology)
Source: International Ophthalmology - April 15, 2024 Category: Opthalmology Source Type: research
Integrated bioinformatics analysis of retinal ischemia/reperfusion injury in rats with potential key genes
The tissue damage caused by transient ischemic injury is an essential component of the pathogenesis of retinal ischemia, which mainly hinges on the degree and duration of interruption of the blood supply and t... (Source: BMC Genomics)
Source: BMC Genomics - April 15, 2024 Category: Genetics & Stem Cells Authors: Kai-Xiong Qing, Amy C. Y. Lo, Siduo Lu, You Zhou, Dan Yang and Di Yang Tags: Research Source Type: research
Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C > T) using non-integrative Sendai virus-based approach
Stem Cell Res. 2024 Apr 9;77:103418. doi: 10.1016/j.scr.2024.103418. Online ahead of print.ABSTRACTMutations in ABCA4 gene leads to the most common form of an inherited retinal disease namely, the Stargardt disease, type 1. Here, we report the generation of two different patient-specific induced pluripotent stem cell lines (LVPEIi007-B and LVPEIi008-B), carrying an identical homozygous mutation, (c.6088C>T) within the exon 44 of ABCA4 gene. These lines were generated by the reprogramming of patient-specific dermal fibroblasts, using the integration-free, Sendai viral vectors. Both lines were stably expanded and expresse...
Source: Cell Research - April 14, 2024 Category: Cytology Authors: Divya Pidishetty Savitri Maddileti Sudipta Mahato Trupti Agrawal Vinay Kumar Pulimamidi Milind Naik Chitra Kannabiran Subhadra Jalali Indumathi Mariappan Source Type: research
