Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications.

Background: Colorectal cancers (CRCs) from people with biallelic germline likely pathogenic/pathogenic variants in MUTYH or NTHL1 exhibit specific single base substitution (SBS) mutational signatures, namely combined SBS18 and SBS36 (SBS18+SBS36), and SBS30, respectively. The aim was to determine if adenomas from biallelic cases demonstrated these mutational signatures at diagnostic levels.

Methods: Whole-exome sequencing of FFPE tissue and matched blood-derived DNA was performed on 9 adenomas and 15 CRCs from 13 biallelic MUTYH cases, on 7 adenomas and 2 CRCs from 5 biallelic NTHL1 cases and on 27 adenomas and 26 CRCs from 46 non-hereditary (sporadic) participants.

A comprehensive update on over the counter artificial tears.

Purpose Of Review: Artificial tears play a critical role in the management of dry eye disease (DED), providing patient symptomatic relief and improving ocular surface health. Its clinical importance has driven pharmaceutical innovation in terms of its formula and ingredients. The following article is an overview of the artificial tear products on the market.

Decreased Ocular Perfusion Pressure Associated With Reverse Ophthalmic Artery Flow on Transcranial Doppler Ultrasonography.

Innovative applications of clinical ocular diagnostic tools are emerging to help identify systemic disorders that extend beyond ocular diseases. Ophthalmodynamometry (ODM) is a screening tool that non-invasively determines mean central retinal artery pressure (MCRAP) and ocular perfusion pressure (OPP). Decreased OPP and MCRAP on Falck Medical Multifunctional Device (FMD, Falck Medical, Inc.

Leukemic Retinopathy: A Diagnostic Clue for Initial Detection and Prognosis of Leukemia.

Leukemia is a systemic malignancy that can compromise various physiological functions, including vision. We report a case of a 37-year-old male presenting with worsening bilateral central vision loss, fatigue, shortness of breath, and ankle edema. Ophthalmic examination revealed extensive retinal hemorrhages, Roth spots, and subhyaloid hemorrhages, consistent with leukemic retinopathy.