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This study investigated the distinctive features and management outcomes of combined exfoliation syndrome and angle-closure glaucoma (XFS-PACG) through a prospective, multicenter observational cohort study including 350 patients (118 XFS, 127 PACG, 105 combined XFS-PACG). Combined pathology demonstrated unique characteristics including bimodal diurnal IOP fluctuations, asymmetric angle closure correlating with exfoliation material distribution, and accelerated zonular weakness with progressive anterior lens displacement. Disease progression was significantly more aggressive in combined cases (visual field deterioration − 2.9 ± 0.8 dB/year versus − 1.7 ± 0.6 and − 1.4 ± 0.5 dB/year in XFS and PACG respectively). Therapeutic response evaluation revealed that prostaglandin-alpha2agonist combinations were most effective pharmacologically in combined cases, while traditional laser peripheral iridotomy achieved limited sustained control (38.1%). Early phacoemulsification with minimally invasive glaucoma surgery demonstrated superior surgical outcomes (72.4% complete success) compared to filtering procedures (53.3%). These findings support an individualized treatment approach for combined XFS-PACG, with early intervention and condition-specific protocols to optimize outcomes in this challenging clinical entity.

Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-mapping analysis of a previously identified disease-associated locus, LOXL1 . They identify a rare protective variant in LOXL1 exclusive to the Japanese population and five new common variant susceptibility loci. Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A , have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1 , which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10 −14 ) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci ( P < 5 × 10 −8 ). We identified association signals at 13q12 ( POMP ), 11q23.3 ( TMEM136 ), 6p21 ( AGPAT1 ), 3p24 ( RBMS3 ) and 5q23 (near SEMA6A ). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

A large-scale proteomic approach was used to evaluate the protein profiles of aqueous humor obtained from patients with primary open angle glaucoma (POAG) and exfoliation glaucoma (EXG). The study population consisted of 15 POAG and 15 EXG patients, and 10 patients with no previous ophthalmic treatment as controls. Aqueous humor was collected at the beginning of surgery. Proteins were analyzed using the SOMAscan platform. Among the 7,335 human proteins identified in the aqueous humor of POAG and EXG patients, 215 and 330, respectively, were upregulated, as compared to controls. A pathway-enrichment analysis of the proteins upregulated in both POAG and EXG revealed enrichment of those involved in trabecular meshwork remodeling. Among the 43 and 23 proteins downregulated in POAG and EXG, respectively, was GSTP1, whose null genotype has been shown to increase the risk of POAG in Asians. SOMAscan analysis of the aqueous humor proteins of POAG and EXG patients revealed enrichment of pathways related to the onset and progression of glaucoma, as well as novel disease-associated proteins. These results demonstrate the advantages of SOMAscan, including its high detection sensitivity and accuracy even in analyses of a small number of samples.

Background Exfoliation syndrome (XFS) is an age-related systemic disorder characterized by excessive production and progressive accumulation of abnormal extracellular material, with pathognomonic ocular manifestations. It is the most common cause of secondary glaucoma, resulting in widespread global blindness. The largest global meta-analysis of XFS in 123,457 multi-ethnic individuals from 24 countries identified seven loci with the strongest association signal in chr15q22–25 region near LOXL1. Expression analysis have so far correlated coding and a few non-coding variants in the region with LOXL1 expression levels, but functional effects of these variants is unclear. We hypothesize that analysis of the contribution of the genetically determined component of gene expression to XFS risk can provide a powerful method to elucidate potential roles of additional genes and clarify biology that underlie XFS. Results Transcriptomic Wide Association Studies (TWAS) using PrediXcan models trained in 48 GTEx tissues leveraging on results from the multi-ethnic and European ancestry GWAS were performed. To eliminate the possibility of false-positive results due to Linkage Disequilibrium (LD) contamination, we i) performed PrediXcan analysis in reduced models removing variants in LD with LOXL1 missense variants associated with XFS, and variants in LOXL1 models in both multiethnic and European ancestry individuals, ii) conducted conditional analysis of the significant signals in European ancestry individuals, and iii) filtered signals based on correlated gene expression, LD and shared eQTLs, iv) conducted expression validation analysis in human iris tissues. We observed twenty-eight genes in chr15q22–25 region that showed statistically significant associations, which were whittled down to ten genes after statistical validations. In experimental analysis, mRNA transcript levels for ARID3B, CD276, LOXL1, NEO1, SCAMP2, and UBL7 were significantly decreased in iris tissues from XFS patients compared to control samples. TWAS genes for XFS were significantly enriched for genes associated with inflammatory conditions. We also observed a higher incidence of XFS comorbidity with inflammatory and connective tissue diseases. Conclusion Our results implicate a role for connective tissues and inflammation pathways in the etiology of XFS. Targeting the inflammatory pathway may be a potential therapeutic option to reduce progression in XFS.

Graphene, a two-dimensional (2D) carbon nanomaterial, has attracted worldwide attention owing to its fascinating properties. One of critical bottlenecks on some important classes of applications, such as printed electronics, conductive coatings, and composite fillers, is the lack of industrial-scale methods to produce high-quality graphene in the form of liquid suspensions, inks, or dispersions. Since 2008, when liquid-phase exfoliation (LPE) of graphene via sonication was initiated, huge progress has been made in the past decade. This review highlights the latest progress on the successful preparation of graphene in various media, including organic solvents, ionic liquids, water/polymer or surfactant solutions, and some other green dispersants. The techniques of LPE, namely sonication, high-shear mixing, and microfluidization are reviewed subsequently. Moreover, several typical devices of high-shear mixing and exfoliation mechanisms are introduced in detail. Finally, we give perspectives on future research directions for the development of green exfoliation media and efficient techniques for producing high-quality graphene. This systematic exploratory study of LPE will potentially pave the way for the scalable production of graphene, which can be also applied to produce other 2D layered materials, such as BN, MoS2, WS2, etc.

Glaucoma, the world’s leading cause of irreversible blindness, is a complex disease, with differential presentation as well as ethnic and geographic disparities. The multifactorial nature of glaucoma complicates the study of genetics and genetic involvement in the disease process. This review synthesizes the current literature on glaucoma and genetics, as stratified by glaucoma subtype and ethnicity. Primary open-angle glaucoma (POAG) is the most common cause of glaucoma worldwide, with the only treatable risk factor (RF) being the reduction of intraocular pressure (IOP). Genes associated with elevated IOP or POAG risk include: ABCA1, AFAP1, ARHGEF12, ATXN2, CAV1, CDKN2B-AS1, FOXC1, GAS7, GMDS, SIX1/SIX6, TMCO1, and TXNRD2. However, there are variations in RF and genetic factors based on ethnic and geographic differences; it is clear that unified molecular pathways accounting for POAG pathogenesis remain uncertain, although inflammation and senescence likely play an important role. There are similar ethnic and geographic complexities in primary angle closure glaucoma (PACG), but several genes have been associated with this disorder, including MMP9, HGF, HSP70, MFRP, and eNOS. In exfoliation glaucoma (XFG), genes implicated include LOXL1, CACNA1A, POMP, TMEM136, AGPAT1, RBMS3, and SEMA6A. Despite tremendous progress, major gaps remain in resolving the genetic architecture for the various glaucoma subtypes across ancestries. Large scale carefully designed studies are required to advance understanding of genetic loci as RF in glaucoma pathophysiology and to improve diagnosis and treatment options.

Pseudoexfoliation(PEX) syndrome is an age-related disorder of the extracellular material accumulation in the anterior segment of eye. PEX material is not clearly known, but several studies have found amyloid as a PEX component. Alzheimer's disease(AD) is a representative disorder in which amyloid accumulates. The process of deposition of PEX material has similar features to the amyloid aggregation of AD. Amyloid deposition causes brain atrophy in AD. This study investigated whether PEX syndrome associated with brain atrophy and AD. We reviewed the medical records of patients diagnosed with PEX between January 2015 and August 2021 at the Veterans Health Service Medical Center. This retrospective cohort study involved 48 patients with PEX and 48 healthy age- and gender- matched control participants. PEX patients were divided into 2 groups with or without glaucoma. The main outcome measure was the brain atrophy using visual rating scale and incidence of AD. The participants with medial temporal atrophy were 56.3% for PEX, 35.4% for control group. The global cortical atrophy and parietal atrophy was significantly higher in the PEX group. (p <0.05) Comparison between the PEX syndrome and PEX glaucoma showed no difference in brain atrophy. Among the 96 participants, those diagnosed with AD were 16 and 5 participants in PEX and control group, respectively. PEX glaucoma tended to have lower MMSE score than those without glaucoma. PEX is associated with brain atrophy, which reflect the AD risk. PEX glaucoma may show advanced stages of AD. Our studies suggest that PEX can be a predictor of early phase of AD.

Graphene, which is made up of single-layer sp2 graphite, has stimulated the interest of researchers in a variety of application fields, including electronics, pharmaceuticals, and chemicals, due to its superior properties. Large-scale production of graphene is essential for the material to be viable and widely used. One of the most efficient methods of accomplishing a huge amount at a reasonable cost is to exfoliate graphite to produce graphene. The purpose of this paper is to analyze several exfoliation procedures based on a common mechanical and chemical mechanism, because a detailed analysis of the exfoliation phenomenon can lead to valuable insights about how to generate high-quality graphene more economically by optimizing exfoliation approaches. In this study, the focus is given on the extensively employed mechanical exfoliation, such as micromechanical cleavage method, sonication method, ball milling method, and fluid mechanics method and chemical exfoliation, such as chemical vapor deposition and chemical method. This study will also focus on the chemical functionalization of graphene, such as covalent functionalization and non-covalent functionalization. This review will give a deep knowledge about graphite exfoliation and functionalization phenomenon, which will guide in the right way for commercial bulk graphene synthesis with less defects.

To evaluate anterior chamber biometric factors and intraoperative metrics associated with the intraocular pressure (IOP) reduction after phacoemulsification in non-glaucomatous pseudoexfoliative syndrome (PXS) eyes. Thirty-three patients were enrolled in this prospective interventional study. Images were excluded if they had poor quality, poor perpendicularity or inability to locate sclera spurs. Anterior chamber depth (ACD), anterior chamber area (ACA), iris thickness, iris area, iris curvature, lens vault, angle opening distance (AOD500, AOD750) and trabecular iris space area (TISA500, TISA750) were measured in qualified images using the Zhongshan Angle Assessment Program and compared preoperatively and 3 months postoperatively. Cumulative dissipated energy (CDE), aspiration time and infusion fluid usage during cataract surgery were obtained from the phacoemulsification machine's metrics record. Postoperative IOP change was compared with these anatomical and intraoperative metric parameters. Mean IOP was 18.1±3.4 mm Hg preoperatively and decreased by 3.3 mm Hg (18%) to 14.8±3.6 mm Hg at 3 months postoperatively (p<0.001). All angle parameters, ACD and ACA increased significantly postoperatively (p<0.001 for all) and iris curvature decreased (p<0.001). In univariate analysis, preoperative IOP (B=-0.668, p=0.002), infusion fluid usage (B=-0.040, p=0.04) and aspiration time (B=-0.045, p=0.003) were negatively associated with IOP decrease after phacoemulsification. Changes in IOP did not demonstrate significant associations with CDE measurements or anterior segment optical coherence tomography measurements, including preoperative angle, iris or anterior segment parameters. In the final multivariate regression model, preoperative IOP (B=-0.668, p=0.002) and infusion fluid usage (B=-0.041, p=0.04) were significantly associated with IOP drop and together can predict 45.1% (p=0.002) of the variability in IOP change. Non-glaucomatous patients with PXS experience moderate IOP reduction following phacoemulsification, and this effect is correlated with preoperative IOP, aspiration time and infusion fluid used intraoperatively.

Two-dimensional (2D) transition metal dichalcogenides (TMDs) have attracted extensive attraction due to their unique properties in novel physical phenomena, such as superconductors, Moiré superlattices, ferromagnetics, Weyl semimetals, which all require the high quality of 2D TMDs. Mechanical exfoliation (ME) as a top-down strategy shows great potential to obtain 2D TMDs with high quality and large scale. This paper reviews the theoretical and experimental details of this method. Subsequently, diverse modified ME methods are introduced. Significantly, the recent progress of the Au-assisted ME method is the highlight. Finally, this review will have an insight into their advantages and limitations, and point out a rational direction for the exfoliation of TMDs with high quality and large size.