Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.

Hereditary optic neuropathies (HON) are a group of diseases due to genetic defects either in mitochondria or in nuclear genomes. The increasing availability of genetic testing has expanded a broader genetic and phenotypic spectrum of HON than previously recognized. To provide systematic insight into the genetic and phenotypic landscape of HON attributed to 50 nuclear genes, we conducted genetic analysis on part of 4776 index patients with clinical diagnosis of HON following our previous study on 1516 probands with Leber hereditary optic neuropathy (LHON) and mitochondrial DNA variants.

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.

Purpose: This study aims to evaluate the genetic and phenotypic characteristics and elucidate the genotype-phenotype correlations of a large Chinese cohort with PAX6-related disorders.

Methods: Variants detected with exome sequencing were filtered through multistep bioinformatic and co-segregation analyses, and validated by Sanger sequencing. The related clinical data were collected, and cluster analysis and statistical analysis of the PAX6-related phenotypes across different variant groups were carried out.

Oxygen influences spatial heterogeneity and microbial succession dynamics during Baijiu stacking process.

The spontaneous solid-state stacking process (SSSP) of Baijiu is an environmentally friendly and cost-effective process for enriching and assembling environmental microorganisms to guarantee the subsequent fermentation efficiency. In this study, how SSSP create spatial heterogeneity of stacking piles were found through spatiotemporal sampling. The degree of difficulty in oxygen exchange categorizes the stacking pile into depleted (≤4%), transitional (4 %-17 %), and enriched (≥17 %) oxygen-defined layers.

Production of cost-competitive bioethanol and value-added co-products from distillers' grains: Techno-economic evaluation and environmental impact analysis.

Here, Baijiu distillers' grains (BDGs) were employed in biorefinery development to generate value-added co-products and bioethanol. Through ethyl acetate extraction at a 1:6 solid-liquid ratio for 10 h, significant results were achieved, including 100 % lactic acid and 92 % phenolics recovery. The remaining BDGs also achieved 99 % glucan recovery and 81 % glucan-to-glucose conversion.

Variant and clinical landscape of Leber hereditary optic neuropathy based on 1516 families with mtDNA variants in a tertiary centre.

Aims: To investigate the clinical characteristics of Leber hereditary optic neuropathy (LHON) with mtDNA primary mutations to better understand features associated with prognosis.

Methods: This study enrolled 1540 LHON patients from 1516 unrelated families genetically confirmed by Sanger or whole-mitochondrial sequencing between 1997 and 2022. The spectrum of variants was summarised and compared in different ethnic groups.

A novel UVA-associated circUBE2I mediates ferroptosis in HaCaT cells.

Alternative splicing of precursor messenger RNA (pre-mRNA), including linear splicing and back splicing, produces multiple isoforms that lead to diverse cell fates in response to stimuli including ultraviolet radiation (UVR). Although UVR-induced linear gene splicing has been extensively studied in skin cells, the UVR-induced gene back-splicing events that lead to the production of circular RNAs (circRNAs) have not been thoroughly investigated. The present study used circRNA transcriptome sequencing to screen the differentially expressed circRNAs in human keratinocytes (HaCaT) after UVA irradiation.

Asymmetric Purtscher-Like Retinopathy Caused by a Hypertensive Emergency and Undiagnosed Type 2 Diabetes.

To report a case of Purtscher-like retinopathy (PLR) in the setting of a hypertensive emergency and undiagnosed type 2 diabetes mellitus (DM). A case was analyzed. s: A 29-year-old, obese, hypertensive man presented with a 10-day history of progressive vision loss in the left eye with no history of trauma.

IMPLICATIONS OF COMPLETE POSTERIOR VITREOUS DETACHMENT IN EYES WITH CENTRAL RETINAL VEIN OCCLUSION.

Background/purpose: To evaluate the status of the posterior vitreous hyaloid on presenting optical coherence tomography images of the macula and its relationship to clinical characteristics, treatment patterns, and outcomes in eyes with central retinal vein occlusion.

Methods: This is a retrospective longitudinal cohort study of consecutive patients with acute, treatment-naive central retinal vein occlusion diagnosed between 2009 and 2021 who had at least 12 months of follow-up. Clinical characteristics, treatment patterns, and outcomes were analyzed between eyes stratified based on the presence or absence of a complete posterior vitreous detachment (PVD) on optical coherence tomography at presentation.

Non-Pharmaceutical Interventions against COVID-19 Causing a Lower Trend in Age of LHON Onset.

Leber hereditary optic neuropathy (LHON) is a monogenic but multifactorial disease vulnerable to environmental triggers. Little is known about how LHON onset changed during the COVID-19 pandemic and how non-pharmaceutical interventions (NPHIs) against COVID-19 impact LHON onset. One hundred and forty-seven LHON patients with the m.

Quantitative Geometric Modeling of Blood Cells from X-ray Histotomograms of Whole Zebrafish Larvae.

Tissue phenotyping is foundational to understanding and assessing the cellular aspects of disease in organismal context and an important adjunct to molecular studies in the dissection of gene function, chemical effects, and disease. As a first step toward computational tissue phenotyping, we explore the potential of cellular phenotyping from 3-Dimensional (3D), 0.74 µm isotropic voxel resolution, whole zebrafish larval images derived from X-ray histotomography, a form of micro-CT customized for histopathology.

-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.

Variants in reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions.

Evaluation of Two-Dimensional (2D) versus Three-Dimensional (3D) Video Tutorials in Cataract Surgery for New Trainees.

 Microscopic ophthalmic surgery requires an understanding of three-dimensional (3D) spaces within the eye. Recently, there has been an increase in 3D video training tools in health care. Studies have evaluated the efficacy of 3D tutorials in general surgery, but little has been published within ophthalmology.

Machine learning for predicting the treatment effect of orthokeratology in children.

Purpose: Myopia treatment using orthokeratology (ortho-k) slows myopia progression. However, it is not equally effective in all patients. We aimed to predict the treatment effect of ortho-k using a machine-learning-assisted (ML) prediction model.

Managing water-land-food nexus towards resource efficiency improvement: A superedge-based analysis of China.

Challenges at the intersection of water conservation, land protection, food security, and economic growth cross industrial boundaries, and also involve synergies with multiple policy domains. Despite this, little is known about how system heterogeneity affects water, land, and food (WLF) consumption performance at a sectoral level. This study integrates superedge analysis with a flow interaction network, elasticity theory, and utility analysis to detect the WLF nexus with regard to resource efficiency gains.

Causal complexity of environmental pollution in China: a province-level fuzzy-set qualitative comparative analysis.

Environmental problems are endowed with the causal complexity of multiple factors. Traditional quantitative research on the influencing mechanism of environmental pollution has tended to focus on the marginal effects of specific influencing factors but generally neglected the multiple interaction effects between factors (especially three or more). Based on the panel data of 30 Chinese provinces between 2011 and 2020, this study employs fuzzy set qualitative comparative analysis (fsQCA) - which can provide a fine-grained insight into the causal complexity of environmental issues - to shed light on the influencing mechanism of environmental pollution.

Recession-Resection of the Vertical Rectus Muscles for Chin-up Vertical Abnormal Head Position Associated With Infantile Nystagmus Syndrome.

Purpose: To review the correction of chin-up abnormal head position (AHP) due to infantile nystagmus syndrome via surgery on the vertical rectus muscles, typically a combined recession-resection of these muscles.

Methods: This was a review of 6 patients who underwent surgical correction of chin-up vertical AHP in the context of infantile nystagmus syndrome at an academic institution. The correction of AHP, visual acuity, ductions, and ocular alignment were noted both preoperatively and postoperatively.

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.

Stickler syndrome type I (STL1, MIM 108300) is characterized by ocular, auditory, skeletal and orofacial manifestations. Nonsyndromic ocular STL1 (MIM 609508) characterized by predominantly ocular features is a subgroup of STL1, and it is inherited in an autosomal dominant manner. In this study, a novel variant c.

Multimode participation of traditional Chinese medicine in the treatment of COVID-19.

Background: The outbreak of COVID-19 has swiftly spread across China and all over the world, resulting in severe contagious pneumonia. However, no specific anti-COVID-19 drugs or methods are available for the treatment of this acute and fatal disease. In recent years, as the efficacy and safety of traditional Chinese medicine (TCM) have been universally acknowledged, it has been brought to a crucial status domestically and overseas for the treatment of COVID-19.

Unfolding the synergy and interaction of water-land-food nexus for sustainable resource management: A supernetwork analysis.

Given the large amounts of water, land, and food embodied in the trade of goods and services, a key step in decoupling extensive resource consumption from the economic system is to understand the full impact of socioeconomic development on the water-land-food nexus. This study integrates input-output analysis, ecological network analysis, and Dempster-Shafer evidence theory into a supernetwork model to detect the water-land-food nexus among economic sectors with an aim to explore effective strategic paths for resource management and to facilitate the construction of a resource-saving society. Results show that most sectors of China are resource inefficient and that all resource systems are unsustainable as reflected in the low performance of their Finn's cycling index and system robustness.

Monascus pilosus YX-1125: An efficient digester for directly treating ultra-high-strength liquor wastewater and producing short-chain fatty acids under multiple-stress conditions.

Ultra-high-strength liquor wastewater (UHS-LWW) is rich in organic matter, and the required treatment is expensive. Here, an extremophilic strain Monascus pilosus YX-1125 was isolated for the direct conversion of UHS-LWW to short-chain fatty acids (SCFAs). Strain YX-1125 is an efficient SCFA producer with carbohydrate metabolic flexibility under multiple-stress conditions.

Secreted protein acidic and rich in cysteine (SPARC) knockout mice have greater outflow facility.

Purpose: Secreted protein acidic and rich in cysteine (SPARC) is a matricellular protein that regulates intraocular pressure (IOP) by altering extracellular matrix (ECM) homeostasis within the trabecular meshwork (TM). We hypothesized that the lower IOP previously observed in SPARC -/- mice is due to a greater outflow facility.

Methods: Mouse outflow facility (Clive) was determined by multiple flow rate infusion, and episcleral venous pressure (Pe) was estimated by manometry.

Analysis of the role of social support - cognitive psychology and emotional process approach.

The eyes are extremely important for communication. The muscles around the eyes express emotional states, and the size of the pupil signals whether a person is aroused and alert or bored and fatigued. Pupil size is an overlooked social signal, yet is readily picked up by observers.