Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up.

Background: To analyze the genotype distribution and frequency of hearing loss genes in newborn population and evaluate the clinical value of genetic screening policy in China.

Methods: Genetic screening for hearing loss was offered to 84,029 neonates between March 2019 and December 2021, of whom 77,647 newborns accepted the screening program with one-year follow-up. The genotyping of 15 hot spot variants in GJB2, GJB3, SLC26A4, and MT-RNR1 was performed on microarray platform.

Curved Geometric Networks for Visual Anomaly Recognition.

Learning a latent embedding to understand the underlying nature of data distribution is often formulated in Euclidean spaces with zero curvature. However, the success of the geometry constraints, posed in the embedding space, indicates that curved spaces might encode more structural information, leading to better discriminative power and hence richer representations. In this work, we investigate the benefits of the curved space for analyzing anomalous, open-set, or out-of-distribution (OOD) objects in data.

Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity.

Genetic susceptibility to retinopathy of prematurity (ROP) has been reported. However, no virulence genes are currently known for ROP. This study aimed to assess FZD4, LRP5, TSPAN12, and NDP, which are known virulence genes involved in familial exudative vitreoretinopathy, an ailment that shares some symptoms with ROP.

[The role of stromal cell-derived factor and its receptor-CXCR4 in G-CSF-induced hematopoietic stem cell mobilization].

Objective: To explore the role of stromal cell-derived factor (SDF-1) and its specific receptor CXCR4 in the G-CSF-induced hematopoietic stem/progenitor cells (HSPCs) mobilization in human healthy donor.

Methods: The changes of SDF-1/CXCR4 in bone marrow (BM) and peripheral blood (PB) of healthy donors during G-CSF-induced mobilization were detected by enzyme-linked immunosorbent assay (ELISA), immunohistological staining and flow cytometry. SDF-1 neutralizing antibody wes injected into BALB/c mice to further test its effect on mobilization.