A novel truncating mutation that causes autosomal dominant retinitis pigmentosa (ADRP).

Background: Retinitis pigmentosa (RP) is a genetically and clinically heterogeneous group of hereditary degenerative disorders affecting approximately one in every 4000 people worldwide. Abnormalities in the retina's photoreceptors can cause night blindness or even complete vision loss. Retinitis Pigmentosa 1 (RP1), also known as the oxygen-regulated protein-1, is a microtubule-associated protein (MAP) that organizes the outer segment of the photoreceptor.

Femtosecond Laser Arcuate Keratotomy vs Toric Intraocular Lens Implantation in Cataract Surgery: A Randomized Clinical Trial.

Importance: After cataract surgery, postoperative residual astigmatism can influence a patient's visual quality and satisfaction. Finding ways to minimize this astigmatism is important.

Objective: To compare the clinical outcomes of femtosecond laser arcuate keratotomy (FSAK) and toric intraocular lens (TIOL) implantation for astigmatism correction in patients undergoing femtosecond laser-assisted cataract surgery.

Global Leadership Initiative on Malnutrition criteria: Clinical benefits for patients with gastric cancer.

Malnutrition is a prevalent condition among patients with gastric cancer and is associated with poor survival outcomes. This study aimed to evaluate the clinical utility of the Global Leadership Initiative on Malnutrition (GLIM) criteria in predicting survival among patients with gastric cancer. The multicenter retrospective cohort study (INSCOC study) included 1406 patients enrolled between December 2012 and April 2020, with follow-up data collected until June 2023.

Truncation mutations of CRYGD gene in congenital cataracts cause protein aggregation by disrupting the structural stability of γD-crystallin.

Congenital cataracts, a prevalent cause of blindness in children, are associated with protein aggregation. γD-crystallin, essential for sustaining lens transparency, exists as a monomer and exhibits excellent structural stability. In our cohort, we identified a nonsense mutation (c.

Production of γ-aminobutyric acid-enriched sourdough bread using an isolated strain JC30.

A γ-aminobutyric acid (GABA)-producing strain JC30 was isolated from traditional kimchi, which was identified as by 16S rDNA sequencing. . JC30 was highly tolerant to acid, bile salt, and high temperatures.

Subacute-onset cataract in a 29-year-old man with mitochondrial encephalomyopathy: A case report.

This case report aims to emphasize that subacute occurrence of nuclear cataract might be one of the underestimated manifestations of mitochondrial encephalomyopathy, thus periodical ophthalmologic examinations are recommended.

Electroacupuncture Relieves HuR/KLF9-Mediated Inflammation to Enhance Neurological Repair after Spinal Cord Injury.

Electroacupuncture (EA) is widely applied in clinical therapy for spinal cord injury (SCI). However, the associated molecular mechanism has yet to be elucidated. The current study aimed to investigate the underlying mechanism of EA in neurologic repair after SCI.

Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation.

Congenital cataract is the leading cause of childhood blindness, which primarily results from genetic factors. γD-crystallin is the most abundant γ-crystallin and is essential for maintaining lens transparency and refractivity. Numerous mutations in γD-crystallin have been reported with unclear pathogenic mechanism.

The Facile Three-Dimensional Printing of the Composite of Copper Nanosized Powder and Micron Powder with Enhanced Properties.

Three-dimensional (3D) printing of Cu items is a new way to build up the structured Cu materials, but 3D printing of Cu items is usually a challenge because of the high melting point, high thermal conductivity, and high light reflection rate of Cu material. In this study, the composite of Cu microspheres powder and Cu nanoparticles (micro/nano Cu powder) is used to realize the 3D printing of Cu items with the selective laser melting technology. The sintering temperature and the thermal conductivity of micro/nano Cu powder are evidently decreased due to Cu nanoparticles' addition in the micron Cu powder.

The 18th amino acid glycine plays an essential role in maintaining the structural stabilities of γS-crystallin linking with congenital cataract.

γS-crystallin is particularly rich in the embryonic nuclear region and is crucial to the maintenance of lens transparency and optical properties. Gene mutations in crystallin are the main factors leading to congenital hereditary cataracts, which are a major cause of visual impairment in children. Some mutations located in the 18th amino acid glycine of γS-crystallin were reported to be linking with congenital cataracts.

Lens regeneration using hESCs-derived cells -similar to natural lens.

Lens itself has limited regeneration functionality, thus we aimed to create regenerated lens with biological function to treat cataracts rather than the intraocular lens used in cataract surgery. We induced exogenous human embryonic stem cells to directionally differentiate into lens fate like cells , mixed these cells with hyaluronate, and then implanted the mixture into lens capsule to regenerate . We successfully achieved near-complete lens regeneration, and the thickness of the regenerated lens reached 85% of the contralateral eye, showing the characteristics of biconvex shape, transparency, and a thickness and diopter close to that of natural lenses.

Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by βB2-G149V Mutation.

Congenital cataracts account for approximately 5-20% of childhood blindness worldwide and 22-30% of childhood blindness in developing countries. Genetic disorders are the primary cause of congenital cataracts. In this work, we investigated the underlying molecular mechanism of G149V point missense mutation in βB2-crystallin, which was first identified in a three-generation Chinese family with two affected members diagnosed with congenital cataracts.

Comparison of femtosecond laser-assisted cataract surgery and conventional phacoemulsification on corneal impact: A meta-analysis and systematic review.

This meta-analysis aims to compare corneal injuries and function after femtosecond laser-assisted cataract surgery (FLACS) and conventional phacoemulsification surgery (CPS). A comprehensive literature search of PubMed, EMBASE, and the Cochrane Controlled Trials Register was conducted to identify randomized controlled trials (RCT) and high-quality prospective comparative cohort studies comparing FLACS with CPS. Endothelial cell loss percentage (ECL%), central corneal thickness (CCT), endothelial cell density (ECD), endothelial cell loss (ECL), percentage of the hexagonal cell (6A), and coefficient of variance (CoV) were used as an indicator of corneal injury and function.

Heteromeric formation with βA3 protects the low thermal stability of βB1-L116P.

Background/aims: Congenital cataract is the leading cause of visual disability and blindness in childhood. βB1-crystallin (CRYBB1) comprises about 1/10th of crystallin structural proteins, forming heteromers to maintain lens transparency. We previously reported a CRYBB1 mutation (c.

Recent Advances of Intraocular Lens Materials and Surface Modification in Cataract Surgery.

Advances in cataract surgery have increased the demand for intraocular lens (IOL) materials. At present, the progress of IOL materials mainly contains further improving biocompatibility, providing better visual quality and adjustable ability, reducing surgical incision, as well as dealing with complications such as posterior capsular opacification (PCO) and ophthalmitis. The purpose of this review is to describe the research progress of relevant IOL materials classified according to different clinical purposes.

A novel cataract-causing mutation Ile82Met of γA crystallin trends to aggregate with unfolding intermediate.

Cataract is the most common pathogenic ophthalmic disease leading to blindness in children worldwide. Genetic disorder is the leading cause of congenital cataract, among which crystallin mutations have a high incidence. There are few reports on γA-crystallin, one critical member of crystallin superfamilies.

Heterozygous variants c.781G>A and c.1066dup of cause familial nanophthalmos by impairing serine-type endopeptidase activity.

Background/aims: Nanophthalmos is a rare developmental, bilateral, sporadic or hereditary form of microphthalmos. In this study, the heterozygous variants c.781G>A and c.

Cataract-Causing S93R Mutant Destabilized Structural Conformation of βB1 Crystallin Linking With Aggregates Formation and Cellular Viability.

Cataract, opacity of the eye lens, is the leading cause of visual impairment worldwide. The crucial pathogenic factors that cause cataract are misfolding and aggregation of crystallin protein. βB1-crystallin, which is the most abundant water-soluble protein in mammalian lens, is essential for lens transparency.

Safety of femtosecond laser-assisted cataract surgery versus conventional phacoemulsification for cataract: A meta-analysis and systematic review.

Purpose: To compare the complications of femtosecond laser-assisted cataract surgery (FLACS) with those of conventional phacoemulsification surgery (CPS) for age-related cataracts.

Methods: PubMed, Cochrane Library, and EMBASE were systematically searched for studies comparing FLACS and CPS. Outcomes were operative complications, including the intraoperative capsule tear, postoperative corneal edema, macular edema, uncontrolled IOP, etc.

Nuclear receptors modulate inflammasomes in the pathophysiology and treatment of major depressive disorder.

Major depressive disorder (MDD) is highly prevalent and is a significant cause of mortality and morbidity worldwide. Currently, conventional pharmacological treatments for MDD produce temporary remission in < 50% of patients; therefore, there is an urgent need for a wider spectrum of novel antidepressants to target newly discovered underlying disease mechanisms. Accumulated evidence has shown that immune inflammation, particularly inflammasome activity, plays an important role in the pathophysiology of MDD.

Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability.

Congenital cataract, a common disease with lens opacification, causes blindness in the newborn worldwide and is mainly caused by abnormal aggregation of crystallin. As the main structural protein in the mammalian lens, βB1-crystallin has an important role in the maintenance of lens transparency. Recently, the L116P mutation in βB1-CRY was found in a Chinese family with congenital nuclear cataracts, while its underlying pathogenic mechanism remains unclear.

Cataract-causing mutation R48C increases γA-crystallin susceptibility to oxidative stress and ultraviolet radiation.

Among all congenital cataracts caused by genetic mutations, approximately half are caused by a mutation in crystallin genes, and accounts the leading cause of blindness in children globally. In this study, we investigated the underlying molecular mechanism of R48C mutation (c.142C > T; p.

Bacterial and Fungal Infections Promote the Bone Erosion Progression in Acquired Cholesteatoma Revealed by Metagenomic Next-Generation Sequencing.

An acquired cholesteatoma generally occurs as a consequence of otitis media and eustachian tube dysfunction. Patients with acquired cholesteatoma generally present with chronic otorrhea and progressive conductive hearing loss. There are many microbes reportedly associated with acquired cholesteatoma.