Download full-text PDF

Source

Publication Analysis

Top Keywords

[leber's optic
4
optic neuropathy
4
neuropathy ten
4
ten years
4
years harding's
4
harding's syndrome]
4
[leber's
1
neuropathy
1
ten
1
years
1

Similar Publications

Thermally Drawn Shape and Stiffness Programmable Fibers for Medical Devices.

Adv Healthc Mater

December 2024

Department of Metabolism, Digestion, and Reproduction, Faculty of Medicine, Imperial College London, London, SW7 2AZ, UK.

Article Synopsis
  • Shape Memory Polymers (SMPs) have great potential for medical applications, but their usage has been limited due to challenges in processing and production.
  • This study introduces a thermal drawing technique to create Shape Memory Polymer Fibers (SMPFs) that allow for programmable stiffness and shape control, specifically designed for medical devices.
  • The research explores various applications of these SMPFs in medical devices like adjustable catheters, neural interfaces, and cochlear implants, demonstrating their versatility and potential in programmable mechanical functions.
View Article and Find Full Text PDF

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.

Indian J Ophthalmol

December 2024

Srimati Kanuri Santhamma Center for Vitreoretinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India.

Purpose: To assess the clinical phenotypes and genetic mutations in patients with Leber congenital amaurosis (LCA) from a tertiary eye care center in India.

Design: Retrospective observational study.

Methods: The study includes patients with a clinical diagnosis of LCA who underwent genetic testing from January 2016 to December 2021.

View Article and Find Full Text PDF

Visual Functions in Patients With Leber Hereditary Optic Neuropathy (LHON).

J Neuroophthalmol

December 2024

Exploration de la Vision et Neuro-Ophtalmologie (RF, VS), CHU de Lille, Lille, France; and University of Lille (QL, VS, MB), INSERM, CNRS, UMR-S 1172-Lab, Lille Neuroscience & Cognition, Lille, France.

Background: Most of the data on visual functions in Leber hereditary optic neuropathy (LHON) is based on patient questionnaires. Our study assessed the impact of LHON on visual function by testing facial recognition and execution of purposeful actions.

Methods: Twelve participants with LHON with central scotoma ranging from 5° to 20° and 12 unaffected age-matched controls were involved in our study.

View Article and Find Full Text PDF

An in-depth analysis of susceptibility factors modifying the penetrance of rare Leber hereditary optic neuropathy-causing mutations in respiratory complex I genes encoded in mitochondrial deoxyribonucleic acid has not been performed. To bridge this gap, we conducted a review of the literature on rare mutations associated with LHON, selected those with substantial evidence of pathogenicity, and performed an in-depth analysis of the various pedigrees. Examining the influences that modify the penetrance of the classical mutations associated with this disease may offer insights into susceptibility factors in individuals carrying the rare mutations.

View Article and Find Full Text PDF

Background: Induced pluripotent stem cell (iPSC) technology has emerged as a powerful tool for disease modeling, providing an innovative platform for investigating disease mechanisms. iPSC-derived organoids, including retinal organoids, offer patient-specific models that closely replicate in vivo cellular environments, making them ideal for studying retinal neurodegenerative diseases where retinal ganglion cells (RGCs) are impacted. N6-methyladenosine (m6A), a prevalent internal modification in eukaryotic mRNAs, plays a critical role in RNA metabolic processes such as splicing, stability, translation, and transport.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!