Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Background And Aims: Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evaluated. This research aimed to evaluate the outcomes of application of combined genetic and biochemical NBS for G6PD deficiency and to investigate the molecular epidemiological characteristics, variant spectrum, and genotype-phenotype correlation of G6PD deficiency in China.

Methods: A population-based cohort of 29,601 newborns were prospectively recruited from eight NBS centers in China between February 21 and December 30, 2021.

Starvation insult induces the translocation of high mobility group box 1 to cytosolic compartments in glioma.

High mobility group box 1 (HMGB1) is a highly conserved and ubiquitous nuclear protein in eukaryotic cells. In response to stress, it transfers from the nucleus to the cytoplasm and finally, to the extracellular matrix, participating in inflammation and carcinogenesis. Increased HMGB1 protein levels are frequently associated with the reduced survival of patients with glioma.

Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.

Importance: Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not been evaluated in a general newborn population.

A weighted-sum chaotic sparrow search algorithm for interdisciplinary feature selection and data classification.

In today's data-driven digital culture, there is a critical demand for optimized solutions that essentially reduce operating expenses while attempting to increase productivity. The amount of memory and processing time that can be used to process enormous volumes of data are subject to a number of limitations. This would undoubtedly be more of a problem if a dataset contained redundant and uninteresting information.

Paleoenvironmental changes in the coastal zone of the northwest South China Sea during the last 13 kyr.

Marine sediments in coastal zones serve as valuable archives for understanding the history of silicate chemical weathering and summer monsoon rainfall in source areas, providing insights into terrigenous climate and environmental evolution. In this study, we investigated the grain size, clay minerals, and geochemistry of sediments retrieved from core KZK01 in the coastal zone of the northwest South China Sea during the past 13 thousand years before present (kyr BP). Our findings demonstrated that the illite crystallinity index served as a reliable proxy for assessing the intensity of chemical weathering in the source area.

Neuronal p58 Protects Retinal Ganglion Cells Independently of Macrophage/Microglia Activation in Ocular Hypertension.

p58 is a multifaceted endoplasmic reticulum (ER) chaperone and a regulator of eIF2α kinases involved in a wide range of cellular processes including protein synthesis, ER stress response, and macrophage-mediated inflammation. Systemic deletion of p58 leads to age-related loss of retinal ganglion cells (RGC) and exacerbates RGC damage induced by ischemia/reperfusion and increased intraocular pressure (IOP), suggesting a protective role of p58 in the retina. However, the mechanisms remain elusive.

Efficiency and Complication of 577-nm Laser Membranotomy for the Treatment of Retinal Sub-Inner Limiting Membrane Hemorrhage.

Objective: We investigated the clinical efficiency and complications of treatment of retinal sub-inner limiting membrane (sub-ILM) hemorrhage by 577-nm semiconductive laser membranotomy.

Methods: The clinical features, ocular fundus photography, and SD-OCT image of patients who received 577-nm laser membranotomy for sub-ILM hemorrhage were assessed from January 2017 to April 2022 in this retrospective case-series study.

Results: A total of 19 patients (19 eyes) were treated for sub-ILM hemorrhage of the macula, in which eight were women and 11 were men.

Assessing Heavy Metal Pollution of the Largest Nature Reserve in Tianjin City, China.

Beidagang Wetland (BW) Nature Reserve is centrally situated in Tianjin City, experiencing an extreme industrial development. This study uses index characteristic analysis systems for assessing the individual and combined heavy metal pollution loading in the water during the spring and autumn seasons. By combining the pollution level of single pollutant, a more comprehensive evaluation of water quality in BW was achieved.

Macular Morphology in Patients With Diabetic Retinopathy Treated by ILM Peeling: A Propensity Score-Matched Analysis.

Background And Objective: To analyze the effects of vitrectomy combined with internal limiting membrane (ILM) peeling in patients with diabetic retinopathy (DR) by propensity score-matched analysis.

Patients And Methods: Patients with proliferative DR that underwent pars plana vitrectomy were divided into two groups: without or with additional ILM peeling. Propensity score-matched analyses of variables were carried out.

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.

Purpose: This study aims to analyze the Norrie disease gene (NDP) variants in patients with familial exudative vitreoretinopathy (FEVR) and their clinical features.

Methods: Thirty-three Chinese patients (22 familial and 11 simplex) who were diagnosed as FEVR underwent detailed ocular examinations in Beijing Tongren Hospital. Peripheral venous blood was drawn from the patients and their family members for the extraction of genomic DNA.

Glioma cells are resistant to inflammation‑induced alterations of mitochondrial dynamics.

Accumulating evidence suggests that inflammation is present in solid tumors. However, it is poorly understood whether inflammation exists in glioma and how it affects the metabolic signature of glioma. By analyzing immunohistochemical data and gene expression data downloaded from bioinformatic datasets, the present study revealed an accumulation of inflammatory cells in glioma, activation of microglia, upregulation of proinflammatory factors (including IL‑6, IL‑8, hypoxia‑inducible factor‑1α, STAT3, NF‑κB1 and NF‑κB2), destruction of mitochondrial structure and altered expression levels of electron transfer chain complexes and metabolic enzymes.

Real-time segmentation and tracking of excised corneal contour by deep neural networks for DALK surgical navigation.

Objective: Corneal disease is one of the main causes of blindness for humans globally nowadays, and deep anterior lamellar keratoplasty (DALK) is a widely applied technique for corneal transplantation. However, the position of stitch points highly influences the success rate of such surgery, which would require accurate control and manipulation of surgical instruments.

Methods: In this paper, we present a deep learning framework for augmented reality (AR) based surgery navigation to guide the suturing in DALK.

Downregulation of reelin predicts poor prognosis for glioma.

In the present study, we studied the relationship between and prognosis in glioma. Expression profiles and methylation data of were obtained from bioinformatic datasets. Correlations between and clinicopathological features and overall survival were respectively assessed using chi-square test and Kaplan-Meier analysis.

Fusion of subarachnoid hemorrhage data and computed tomography angiography data is helpful to identify the rupture source in patients with multiple intracranial aneurysms.

Determining the rupture source is imperative in patient with aneurysmal subarachnoid hemorrhage (SAH). About one third of SAH cases with multiple intracranial aneurysms cannot be certain of the rupture source according to the hemorrhage pattern. This study aims to identify of the rupture source in patients with multiple intracranial aneurysms by fusing SAH data and computed tomography angiography (CTA) data.

SURGICAL OUTCOMES OF 25-GAUGE PARS PLANA VITRECTOMY USING AIR AS AN INTERNAL TAMPONADE FOR PRIMARY RHEGMATOGENOUS RETINAL DETACHMENT.

Purpose: To report surgical outcomes of 25-gauge pars plana vitrectomy using air as an internal tamponade for patients with primary rhegmatogenous retinal detachment (RRD).

Methods: A retrospective clinical study of 59 eyes of 59 consecutive patients presented with primary RRD at the Beijing Tongren Eye Center in China. From August 2016 to May 2018, medical records of the patients who underwent 25-gauge pars plana vitrectomy with air tamponade for RRD were reviewed.

The association between high mobility group box 1 chromatin protein and mitotic chromosomes in glioma cells.

High mobility group box 1 (HMGB1) is an abundant non-histone nuclear protein that functions as a structural protein of chromatin, regulating genome replication and recombination, mRNA transcription and DNA repair. HMGB1 has been implicated in the tumorigenesis of various cancer types, and the upregulation of HMGB1 has been demonstrated in glioma cells. However, the association between HMGB1 and the mitotic chromosomes in glioma remains uncharacterized.

Overexpression of high mobility group box 1 (HMGB1) has no correlation with the prognosis in glioma.

We aimed to characterize the role of HMGB1 overexpression in glioma and to evaluate its use as a biomarker. We used the gene expression datasets and tissue microarray to assess the expression levels of HMGB1 among gliomas of all grades; We then assessed its correlation with the malignancy and outcome of glioma. The increase in HMGB1 mRNA and protein levels was found in glioma, but there was no correlation between HMGB1 expression and glioma malignancy, and overall survival and vital status of glioma patients.

Idiopathic Hypertrophic Pachymeningitis Mimicking Meningioma with Occlusion of Superior Sagittal Sinus: Case Report and Review of Literature.

Background: Idiopathic hypertrophic pachymeningitis is a rare inflammatory condition with diffuse thickening of the dura mater, which may cause a compressive effect or vascular compromise.

Case Description: A 40-year-old Chinese man presented with persistent headache for 6 months and a sudden epileptic seizure 2 days ago. Magnetic resonance imaging demonstrated a large (71 × 34 × 27 mm) extra-axial mass at the right frontal convexity with severe edema mimicking meningioma.

LncRNA SNHG20 knockdown suppresses the osteosarcoma tumorigenesis through the mitochondrial apoptosis pathway by miR-139/RUNX2 axis.

Increasing evidence has indicated the important roles of long noncoding RNAs (lncRNAs) in human osteosarcoma tumorigenesis. In present study, we aim to investigate the roles of lncRNA SNHG20 (small nucleolar RNA host gene 20) in osteosarcoma tumorigenesis and explore the in-depth molecular mechanism. Results showed that lncRNA SNHG20 expression was up-regulated in osteosarcoma samples and its high-expression indicated the poor prognosis.

Surface-modified PLGA nanoparticles with chitosan for oral delivery of tolbutamide.

The main purpose of present study was to develop novel chitosan-modified polylactic-co-glycolicacid nanoparticles (CS@PLGA NPs) for improving the bio-availability of tolbutamide (TOL). The TOL-loaded CS@PLGA NPs (TOL-CS@PLGA NPs) were fabricated with the solvent evaporation method. The cargo-free CS@PLGA NPs showed a diameter of 228.

Ethnic specific association of the CAV1/CAV2 locus with primary open-angle glaucoma.

A single-nucleotide polymorphism (SNP) rs4236601 at the CAV1/CAV2 locus is associated with primary open-angle glaucoma (POAG). Rs4236601 is common in Caucasians but rare in East Asians. Here we conducted a haplotype-tagging SNP analysis followed by replication in a total of 848 POAG cases and 1574 controls drawn from 3 cities in China and 1 city in Japan.

Association of three single nucleotide polymorphisms at the SIX1-SIX6 locus with primary open angle glaucoma in the Chinese population.

This study investigated the genetic association of three single nucleotide polymorphisms (SNPs; rs10483727, rs33912345, and rs146737847) at the SIX1-SIX6 locus with primary open angle glaucoma (POAG) in the Chinese population. A total of 866 subjects with POAG (685 high-tension glaucoma (HTG) and 181 normal-tension glaucoma (NTG)) and 266 control individuals were included. Significant genetic association was identified for rs10483727 in HTG (P=0.