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Due to the uncertainty of trauma or infection, customized bone substitutes are often required in clinic. Meanwhile, excessive use of antibiotics may lead to drug resistance. Therefore, the design of anti-infection bone tissue engineering scaffold is of very important. In this study, porous titanium alloy bone tissue engineering scaffolds were designed and fabricated by 3D printing. TiO2 nanotubes were further constructed on the scaffolds through electrochemical anodic oxidation, achieving the drug loading and anti-infection functions. The micron-level bionic pores were fabricated by the 3D printing process, and the secondary nanoscale-level nanotubes were achieved through the anodic oxidation process. Thereafter, the micro–nano structured porous bone tissue engineering scaffolds are presented. This structure features that the drug release rate can be regulated by loading the anti-infection drug minocycline and coating them with poly(lactic-co-glycolic acid) (PLGA) in the nanotubes. According to the results, the micro–nano composite porous scaffold showed uniform and controllable micro–nano pores, it may load anti-infection drugs and shown anti-infection ability. In addition, the PLGA coating may delay the drug release and maintain a sustained anti-infection function for the scaffold in a week. This study provides new ideas for designing antibacterial bone tissue engineering scaffold.

Sensorineural hearing loss is a prevalent disorder with significant genetic involvement, which is often challenging to diagnose due to genetic heterogeneity. Exome sequencing (ES) has been a standard diagnostic tool for sensorineural hearing loss, but its limitations in detecting copy number variants (CNVs) and intronic variants have prompted the exploration of genome sequencing (GS) for improved diagnostic yield. We conducted GS on 46 hearing loss families with previously negative ES results and an additional cohort of 36 patients with a monoallelic pathogenic variant in GJB2 (the most common deafness gene). Additionally, the impact of a previously unrecognized novel 125‐kb deletion in the DFNB1 locus on GJB2 expression was assessed using quantitative polymerase chain reaction (qPCR), and haplotype analysis was performed to characterize the deletion. GS diagnosed eight cases (17%, 8/46) in the ES‐negative cohort, primarily attributed to CNVs (6/8). Notably, a previously unrecognized 125 kb deletion in the DFNB1 region was identified, affecting GJB2 expression and characterizing it as a founder effect in East Asian. In 47 patients with a monoallelic GJB2 variant, 15% (95% CI, 7.4%–28%) were diagnosed with DFNB1 deletions. Analysis of the gnomAD database revealed the prevalence and ethnic diversity of DFNB1 deletions, with the novel 125 kb deletion emerging as a prominent pathogenic variant in East Asian, non‐Finnish European, and admixed American populations. Our study highlights the utility of GS in diagnosing sensorineural hearing loss. The identification of DFNB1 deletions underscores their significant contribution to hearing loss etiology, advocating for their inclusion in routine diagnostic testing. We propose GS as a primary genetic testing approach for patients with hearing loss, offering comprehensive genomic analysis and the potential for improved diagnostic accuracy. [ABSTRACT FROM AUTHOR]

BackgroundThe pig, which shares greater similarities with human than with mouse, is important for agriculture and for studying human diseases. However, similarities in the genetic architecture and molecular regulations underlying phenotypic variations in humans and swine have not been systematically assessed.ResultsWe systematically surveyed ~500 F2 pigs genetically and phenotypically. By comparing candidates for anemia traits identified in swine genome-wide SNP association and human genome-wide association studies (GWAS), we showed that both sets of candidates are related to the biological process "cellular lipid metabolism" in liver. Human height is a complex heritable trait; by integrating genome-wide SNP data and human adipose Bayesian causal network, which closely represents bone transcriptional regulations, we identified PLAG1 as a causal gene for limb bone length. This finding is consistent with GWAS findings for human height and supports the common genetic architecture between swine and humans. By leveraging a human protein-protein interaction network, we identified two putative candidate causal genes TGFB3 and DAB2IP and the known regulators MESP1 and MESP2 as responsible for the variation in rib number and identified the potential underlying molecular mechanisms. In mice, knockout of Tgfb3 and Tgfb2 together decreases rib number.ConclusionOur findings show that integrative network analyses reveal causal regulators underlying the genetic association of complex traits in swine and that these causal regulators have similar effects in humans. Thus, swine are a potentially good animal model for studying some complex human traits that are not under intense selection.

Adipose tissue reconstruction is an important technique for soft tissue defects caused by facial plastic surgery and trauma. Adipose tissue reconstruction can be repaired by fat transplantation and biomaterial filling, but there are some problems in fat transplantation, such as second operation and limited resources. The application of advanced artificial biomaterials is a promising strategy. In this paper, injectable biomaterials and three-dimensional (3D) tissue-engineered scaffold materials for adipose tissue reconstruction in plastic surgery are reviewed. Injectable biomaterials include natural biomaterials and artificial biomaterials, which generally have problems such as high absorptivity of fillers, repeated injection, and rejection. In recent years, the technology of new 3D tissue-engineering scaffold materials with adipose-derived stem cells (ADSCs) and porous scaffold as the core has made good progress in fat reconstruction, which is expected to solve the current problem of clinical adipose tissue reconstruction, and various biomaterials preparation technology and transformation research also provide the basis for clinical transformation of fat tissue reconstruction.

Objectives: As one of the most common hereditary diseases, thalassemia affects a large number of people in China. The aim of this study was to investigate the feasibility of a method based on next-generation sequencing (NGS) for screening of thalassemia carriers among high school students in the Shaoguan area. Materials and Methods: The NGS-based method was performed using 25,910 high school students recruited from 38 schools. The screening yield was systematically analyzed. Before screening, a lecture on how the disease is inherited, the symptoms of thalassemia, and how to prevent it was given to 28,780 students. Results: Implying successful delivery of information on the disease, 90.03% (25,910 of 28,780) of the students agreed to join this program for thalassemia screening. A thalassemia carrier rate of 15.99% (4144 of 25,910) was found. Also, 69 rare genotypes (28 of α-thalassemia and 41 of β-thalassemia) and 9 novel variants were identified. Conclusions: This NGS-based method provided a feasible platform for high school population thalassemia screening. Combined with a clinical follow-up strategy, it could help eventually to prevent the births of affected children. [ABSTRACT FROM AUTHOR]