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We report here the clinical diagnosis and treatment and genetic mutations of an infant with You-Hoover-Fong syndrome (YHFS). The relevant literature review was conducted. A female infant aged 17 months was admitted to Nanhai Affiliated Maternity and Children’s Hospital of Guangzhou University of Chinese Medicine due to “global development delay complicated with postnatal growth retardation for more than 1 year.” The infant was diagnosed with YHFS due to the onset of extremely severe mental retardation, microcephaly, abnormal hearing, severe protein–energy malnutrition, congenital cataract, cleft palate (I°), congenital atrial septal defect, brain atrophy, hydrocephalus, and brain hypoplasia. The whole exon sequencing revealed two compound heterozygous mutations, including a likely pathogenic TELO2 variant, c.2245A > T (p.K749X) from her mother and an uncertain variant, c.2299C > T (p.R767C) from her father, validated by Sanger sequencing. After bilateral cataract surgery, the infant obtained better visual acuity and showed more responses and interactions with her parents. Diagnosis and treatment of this case prompt that these TELO2 variants have not been reported, deepening the understanding of the molecular and genetic mechanism of YHFS in clinical practice.

An origin discrimination model for rice from five production regions in Heilongjiang Province was constructed based on the combination of confocal microscopy Raman spectroscopy and chemometrics. A total of 150 field rice samples were collected from the Fangzheng, Chahayang, Jiansanjiang, Xiangshui, and Wuchang production areas. The optimal sample processing conditions, instrument parameter settings, and spectrum acquisition techniques were identified by investigating the influencing factor. The Raman spectra of milled rice within the range of 100–3200 cm−1 were selected as the raw data, and the optimal preprocessing method combination consisting of normalization, Savitzky–Golay smoothing, and multivariate scatter correction was identified. Subsequently, the competitive adaptive reweighted sampling and discrete binary particle swarm optimization algorithms were employed to optimize the feature wavelength selection, resulting in the screening of 226 and 1899 feature wavelength variables, respectively. Using the full Raman spectrum data and feature wavelength data as inputs, partial least squares discriminant analysis, support vector machine and extreme learning machine origin discrimination models were constructed. The results indicated that the BPSO-GA-SVM model exhibited the best predictive ability, achieving a testing set accuracy of 86.67%. [ABSTRACT FROM AUTHOR]

Compared to commercial current collectors (CCs), polymer‐based current collectors (PBCCs) significantly enhance the energy and safety of lithium‐ion batteries. However, the inherent transverse non‐conductivity of traditional PBCCs necessitates the use of complex welding processes during cell assembly thus sacrificing the energy density, stemming from the insulating nature of the intermediate polymer layer in PBCCs. Here, newly designed PI‐CNTs‐Al and PI‐CNTs‐Cu PBCCs are developed by integrating highly conductive carbon nanotubes (CNTs) into the polymer interlayer, which is coated with two metal layers to facilitate longitudinal conductivity. The incorporation of CNTs forms a 3D conductive network within the interlayer, substantially improving the transverse conductivity of PI‐CNTs‐Al and PI‐CNTs‐Cu from 2.19×10−9 and 1.89×10−9 S m−1 to 1.02 and 1.15 S m−1. Furthermore, the addition of CNTs enhances the bonding strength at the metal‐polymer interface, effectively mitigating separation defects commonly observed in traditional PI‐Al and PI‐Cu CCs. The engineered PBCCs can be utilized directly as CCs for cell assembly without complex conductive components. Importantly, the fully charged 1.5 Ah cell, achieving an energy density of 235.8 Wh kg−1 with a 9.0% improvement, successfully endures rigorous needling tests, which can be attributed to the enhanced tensile strength and reduced fracture strain ratio of the PBCCs. [ABSTRACT FROM AUTHOR]

CD8+ T cell spatial distribution in the context of tumor microenvironment (TME) dictates the immunophenotypes of tumors, comprised of immune-infiltrated, immune-excluded and immune-desert, discriminating "hot" from "cold" tumors. The infiltration of cytotoxic CD8+ T cells is associated with favorable therapeutic response. Hitherto, the immunophenotypes of esophageal squamous cell carcinoma (ESCC) have not yet been comprehensively delineated. Herein, we comprehensively characterized the immunophenotypes of ESCC and identified a subset of ESCC, which was defined as cold tumor and characterized with CD8+ T cell-desert TME. However, the mechanism underlying the defect of CD8+ T cells in TME is still pending. Herein, we uncovered that tumor cell-intrinsic EZH2 with high expression was associated with the immunophenotype of immune-desert tumors. Targeted tumor cell-intrinsic EZH2 rewired the transcriptional activation of CXCL9 mediated by NF-κB and concomitantly reinvigorated DC maturation differentiation via inducing the reduction of VEGFC secretion, thereby enhancing the infiltration of cytotoxic CD8+ T cells into TME and inhibiting tumor immune evasion. Our findings identify EZH2 as a potential therapeutic target and point to avenues for targeted therapy applied to patients with ESCC characterized by CD8+ T cell-desert tumors. Tumor-intrinsic EZH2 inhibits the production of CXCL9 and the differentiation of mature dendritic cells, leading to the dearth of CD8+ T cells in esophageal squamous cell carcinoma. [ABSTRACT FROM AUTHOR]

Abstract TRK-fused gene (TFG) is known to be involved in protein secretion and plays essential roles in an antiviral innate immune response. However, its function in LPS-induced inflammation and pyroptotic cell death is still unknown. Here, we reported that TFG promotes the stabilization of Unc-51 like autophagy activating kinase (ULK1) and participates in LPS plus nigericin (Ng) induced pyroptotic cell death. Our results showed that TFG-deficient THP-1 macrophages exhibit higher mitochondrial ROS production. LPS/Ng stimulation triggers a much higher level of ROS and induces pyroptotic cell death. ULK1 undergoes a rapid turnover in TFG-deficient THP-1 cells. TFG forms complex with an E3 ligase, tumor necrosis factor receptor-associated factor 3 (TRAF3), and stabilizes ULK1 via disturbing ULK1-TRAF3 interaction. Knockdown of TFG facilitates the interaction of ULK1 with TRAF3 and subsequent K48-linked ULK1 ubiquitination and proteasome degradation. Rescue of ULK1 expression blocks LPS/Ng-induced cell death in TFG-deficient THP-1 macrophages. Taken together, TFG plays an essential role in LPS/Ng-induced pyroptotic cell death via regulating K48-linked ULK1 ubiquitination in macrophages.