This paper systematically investigates the dynamic mechanical response and fragment characteristics of sandstone with asymmetrical conjugate fissures subjected to preexisting static stress based on the split Hopkinson pressure bar apparatus. The cross-fissured sandstone exhibits significant variations in mechanical behavior when exposed to higher dynamic strain rates under identical static pre-stress. The cross-fissured sandstone with a higher dynamic strain rate is characterized by a greater coupled strength under the same static pre-stress; for a given dynamic load, the highest coupled strength occurs under the static pre-stress of 60% UCS.
View Article and Find Full Text PDFThe Baishi landslide was located in the western part of Beichuan County, Sichuan Province, China. The landslide experienced multiple minor collapses at the front part, accompanying with numerous tensile cracks. To comprehensively grasp the stability conditions and predict the moment of failure of the landslide, deformation monitoring of the landslide has been carried out from the moment that the landslide was reported until it failed.
View Article and Find Full Text PDFOphthalmic Genet
October 2024
Since 2012, the "Mountain Excavation and City Construction" (MECC) project has been implemented extensively on the Loess Plateau of China, transforming gullies into flat land for urban sprawl by leveling loess hilltops to fill in valleys. However, this unprecedented human activity has caused widespread controversy over its unknown potential ecological impacts. Quantitative assessment of the impacts of the MECC project on the vegetation is key to ecological management and restoration.
View Article and Find Full Text PDFPurpose: To delineate the natural history of visual function parameters over time in individuals with Bietti crystalline dystrophy.
Methods: This was a single-center retrospective longitudinal cohort study. Participants (n = 29) with a clinical diagnosis of Bietti crystalline dystrophy who harbored two alleles of disease-causing variants of the cytochrome P450 family 4 subfamily V member 2 gene (CYP4V2) were enrolled.
Purpose: To compare the efficacy and efficiency of self-assembled intraocular rare earth magnet and forceps in removing intraocular foreign bodies(IOFBs) undergoing 25-gauge(G) pars plana vitrectomy.
Methods: A total of 30 patients with metallic IOFB underwent 25-G PPV were enrolled into this study. Self-assembled intraocular rare earth magnet were used in 15 patients(bar group), and forceps were used in 15 patients(forceps group).
Graefes Arch Clin Exp Ophthalmol
January 2024
The sustainability of social pension insurance is of great significance in guaranteeing the essential life of the elderly and promoting social stability. Based on the provincial panel data from 2012 to 2020, this study uses non-spatial measurement methods, ArcGIS visualization research methods, and geographic detectors to study the regional differences in China's pension fund balances and the underlying influencing factors. Compared with the traditional way of establishing regression equations to explore the correlation of influencing factors, geographic detectors can quantify the strength of each influencing factor and detect the interaction of different influencing factors.
View Article and Find Full Text PDFPluripotency is a transient state in early embryos, which is regulated by an interconnected network of pluripotency-related genes. The pluripotent state itself seems to be highly dynamic, which leads to significant differences in the description of induced pluripotent stem cells from different species at the molecular level. With the application of cell reprogramming technology in fish, the establishment of a set of molecular standards for defining pluripotency will be important for the research and potential application of induced pluripotent stem cells in fish.
View Article and Find Full Text PDFBackground: The inheritance pattern of genetically confirmed hereditary juvenile retinoschisis reported so far is X-linked recessive with limited number of female cases. We identified a female patient with retinoschisis, and this study reports the clinical features as well as the underlying genetic defect of this family.
Materials And Methods: Detailed family history and pedigree analysis were performed.
Mol Genet Genomic Med
March 2022
Background: Jalili syndrome (JS) is a rare autosomal-recessive inherited disorder characterized by cone-rod dystrophy and amelogenesis imperfecta. It is often misdiagnosed in clinical practice due to its heterogeneity and rarity.
Methods: Two JS patients from a consanguineous family were included in this study.
The technique of induced pluripotent stem cells has significant application value in breeding and preserving the genetic integrity of fish species. However, it is still unclear whether the chemically induced pluripotent stem cells can be induced from non-mammalian cells or not. In this article, we first verify that fibroblasts of fish can be chemically reprogrammed into pluripotent stem cells.
View Article and Find Full Text PDFOphthalmic Genet
October 2020
Background: Wagner vitreoretinopathy (WVR) is a rare non-syndromic autosomal dominant inherited vitreoretinopathy. We studied the phenotypes of two Chinese families with WVR and identified the pathogenic variants.
Materials And Methods: Four affected individuals were involved in this study.
Induced pluripotent stem (iPS) cells provide a powerful platform for the study of development, regeneration, and disease. Although many stable iPS cell lines have been established for mammals, few attempts have been made to induce iPS cells in nonmammalian species. Because of technical advantages over other vertebrates on stem cells, induced pluripotent stem cells from fish could be of value for research.
View Article and Find Full Text PDFPurpose: To characterize the phenotypic variability and report the genetic defects in a cohort of Chinese patients with biallelic variants of the retinol dehydrogenase 12 (RDH12) gene.
Methods: The study included 38 patients from 38 unrelated families with biallelic pathogenic RDH12 variants. Systematic next-generation sequencing data analysis, Sanger sequencing validation, and segregation analysis were used to identify the pathogenic mutations.
Background: Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients Materials and Methods: Detailed clinical evaluations were performed and genomic DNA was extracted from peripheral blood for all the participants. Sanger sequencing was used to analyze all exons and exon/intron junctions of OPA1 for eight pedigrees.
View Article and Find Full Text PDFNance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations of a Chinese Nance-Horan syndrome pedigree and identified the genetic defect.
View Article and Find Full Text PDFPurpose: This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities.
Methods: Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed.
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families with the HK1 p.
View Article and Find Full Text PDFAm J Hum Genet
April 2017
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms.
View Article and Find Full Text PDFX-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.
View Article and Find Full Text PDFBackground: Usher syndrome is a genetically heterogeneous disorder featured by combined visual impairment and hearing loss. Despite a dozen of genes involved in Usher syndrome having been identified, the genetic basis remains unknown in 20-30% of patients. In this study, we aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome.
View Article and Find Full Text PDFLeber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are two genetically heterogeneous retinal degenerative disorders. Despite the identification of a number of genes involved in LCA and RP, the genetic etiology remains unknown in many patients. In this study, we aimed to identify novel disease-causing genes of LCA and RP.
View Article and Find Full Text PDFObjective: To study the clinical features and to identify the pathogenic mutations in Chinese patients with achromatopsia (ACHM).
Design: Fifteen patients from 10 unrelated families were included in this study. Detailed ocular examinations were performed for the affected subjects, including best-corrected visual acuity (BCVA), colour vision, slit lamp, fundus, electroretinography, perimetry, and spectral domain optical coherent topography (SD-OCT).
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