Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome.

Br J Haematol

Departments of, Department of, Haematology, Children's Health Ireland at Temple Street, Dublin, Ireland.

Published: November 2020

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.16957DOI Listing

Publication Analysis

Top Keywords

novel ocular
4
ocular findings
4
findings progressive
4
progressive intracranial
4
intracranial calcification
4
calcification case
4
case revesz
4
revesz syndrome
4
novel
1
findings
1

Similar Publications

A novel Schirmer Strip-Based Tear Matrix Metalloproteinase Measurement in Dry Eye Evaluation.

Ocul Surf

January 2025

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences; Key Laboratory of Ocular Fundus Diseases, Chinese Academy of Medical Sciences. Electronic address:

Unlabelled: Dry eye disease is a multifactorial disorder of the ocular surface with increasing global prevalence, yet no universally accepted "gold standard" exists for its diagnosis or severity assessment. Tear matrix metalloproteinase 9 (MMP-9) is widely recognized as a valuable biomarker for dry eye, yet there remains a critical need for a simple, accurate, and broadly applicable method for its quantification. This study aims to develop and evaluate a Schirmer strip-based Eu-time resolved fluorescence immunochromatography (Eu-TRFICO) method for the quantitative detection of MMP-9 in tears.

View Article and Find Full Text PDF

Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.

View Article and Find Full Text PDF

Purpose: The purpose of this study was to evaluate the correlation between axial length (AL) and retinal oxygen dynamic parameters in adult patients.

Methods: This was an observational cross-sectional study with 79 Chinese adults with myopia aged 18 to 37 years. All participants underwent AL measurements, cycloplegic refraction, and other ophthalmic examinations.

View Article and Find Full Text PDF

Purpose: Pterygium is a common ocular surface disease characterized by a high recurrence rate and unknown etiology.

Methods: In this study, we investigated the upregulation of matrix metalloproteinase genes, including MMP1, MMP2, MMP3, MMP7, MMP9, MMP11, MMP12, MMP13, MMP23B, and MMP28, in pterygium tissue using RNA sequencing, Western blotting, and immunohistochemistry.

Results: Employing the MEME tool, we identified a conserved DNA motif within the promoter regions of these matrix metalloproteinase genes.

View Article and Find Full Text PDF

Purpose: Chronic inflammation plays an important role in the pathogenesis of choroidal neovascularization (CNV). This study aimed to investigate the effect of the CHF5074, a γ-secretase inhibitor, on angiogenesis in a laser-induced CNV model and elucidate its possible molecular mechanism.

Methods: Male C57/BL6J mice aged between 6 to 8 weeks were employed to set up a laser-induced model of CNV.

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!