Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease
Peer-Reviewed Publication
Updates every hour. Last Updated: 21-Dec-2025 08:11 ET (21-Dec-2025 13:11 GMT/UTC)
Fabry disease in mainland China is now mapped through the largest single-centre cohort to date, clarifying how α-galactosidase A deficiency, genotype and sex jointly sculpt the clinical spectrum. Retrospective analysis of 311 genetically confirmed individuals (200 males, 111 females) collected between 2012 and 2022 reveals that 76% present the classical phenotype and 24% the late-onset variant, with male predominance in the former (72%) and female skewing in the latter (62%). Limb pain (67%), hypohidrosis (63%), proteinuria (51%) and angiokeratomas (46%) emerge as the cardinal complaints, followed by renal (58%), cardiovascular (55%) and neuro-psychiatric (58%) involvement. Eye and ear lesions are also common, yet their frequency diverge sharply between sexes and phenotypes.
An editorial in ECNU Review of Education explores how the COVID-19 pandemic permanently shifted the role of educational technology (EdTech) in global classrooms. It introduces eight cutting-edge studies covering EdTech's influence on language learning, student autonomy, and equity-driven design. The piece argues that EdTech’s future depends not on widespread adoption alone, but on inclusivity, critical engagement, and strong educator support.
Ankylosing spondylitis (AS) is increasingly recognized as an independent risk factor for premature myocardial infarction (MI), yet the molecular bridge linking chronic axial inflammation to acute coronary events remains poorly mapped. Mining four public microarray cohorts (GSE128470, GSE73754, GSE100927, GSE122897) that profile peripheral blood mononuclear cells from AS patients, MI patients and healthy controls, integrative bioinformatics now delivers a concise pathogenic blueprint. Weighted gene co-expression network analysis identified one AS-related and one MI-related module that significantly overlap; machine-learning (LASSO + SVM-RFE) distilled these to two hub genes—S100A12 and MCEMP1—whose transcript levels rise concordantly across both diseases. ROC curves yield AUCs of 0.92–0.96 for distinguishing AS-MI cases from either disease alone, and a nomogram incorporating age, CRP and the two hubs achieves a net reclassification improvement of 34 %.
More oxygen vacancies in NiO-1 are beneficial for the photocatalytic CO2 reduction reaction. When the reaction is carried out in air, the catalytic site transforms from NiO-1 to [Ru(bpy)3]Cl2, and the reduced product changes from CO to CH4.
Researchers at China University of Petroleum (East China) have explored the role of the spin state in catalyst supports using atomically dispersed transition metal catalysts. They designed a single-atom Ru-doped Co3O4 catalyst, which is rich in high-spin Co3+. The unpaired spin electrons in the d-orbital of Co3+ interact strongly with OH* species, achieving industrial-level bifunctional water splitting performance.
Neutralizing antibodies that merely block receptor binding are losing ground against heavily mutated SARS-CoV-2 Omicron sub-variants. A new approach now exploits a llama-derived nanobody—VHH21—that does not just bind the spike (S) protein but actively tears the trimer apart within seconds. Bactrian camels were immunized with a cocktail of recombinant S proteins from ancestral and VOC strains, yielding a high-diversity VHH phage library. Multi-round biopanning and BLI screening singled out six nanomolar-affinity binders; VHH21, which spontaneously dimerizes, stood out by destroying 68 % of surface-immobilized S-trimers in 20 min, far outperforming ACE2 or conventional nanobodies.
Thermoelectric materials are vital for energy conversion technologies, but their performance is often mispredicted due to the oversimplified parabolic band model. Researchers introduced a non-parabolicity factor to quantify deviations in band structure, significantly improving predictions for key transport properties like the Seebeck coefficient and Lorenz number. This refined framework corrects classical inaccuracies, offering new insights into thermoelectric mechanisms and paving the way for the design of high-performance materials essential to energy sustainability.
Recently, a research team led by Qiang Gao and Guozhong Feng from the College of Resources and Environmental Sciences at Jilin Agricultural University conducted systematic research to address this issue. By analyzing the climatic characteristics, soil physical and chemical properties, and current planting conditions of China’s major corn-producing regions, the team identified the core limiting factors for each region: black soil in the Northeast has suffered structural degradation and acidification; the North China Plain has low soil organic matter content (1.31%); the Northwest has annual precipitation of only 290 mm with severe soil desertification; and the Southwest faces challenges of high temperatures and seasonal drought. Based on these differences, the study proposed a regionalized technical model centered on integrated soil-crop system management. By optimizing planting density, nutrient management, and agronomic measures, this model synergistically improves both yield and resource use efficiency. The relevant paper has been published in Frontiers of Agricultural Science and Engineering (DOI: 10.15302/J-FASE-2025615).
Recently, Associate Professor Xinglong Dai from Agronomy College of Shandong Agricultural University and his colleagues proposed a quantitative design theory and technical pathway for green yield increase and efficient nitrogen utilization in winter wheat, providing new insights to address this challenge. Related paper has been published in Frontiers of Agricultural Science and Engineering (DOI: 10.15302/J-FASE-2025631).
The microtubule organizing centers (MTOCs) of oocytes are essential for meiotic spindle assembly and for ensuring precise chromosome segregation. The detailed dynamic changes of MTOCs in germinal vesicle (GV) oocytes - a stage where early events of MTOC maturation happen - remain unclear. Recently, a study published in Science Bulletin explored the dynamics of MTOCs maturation in GV oocytes and disclosed the key factors involved in these processes. According to the investigation, MTOCs maturation is required for spindle assembly and may play an unrecognized role in oocyte aging.