Objective To determine association between tongue carcinoma and polymorphism of urokinase-type plasminogen activator (PLAU) gene.Methods PLAU genotypes of 97 patients with tongue carcinoma and 91 health controls were examined by the PCR-RFLP method.Statistical analyses included a chi-square test for homogeneity and logistic regression analysis.Results The polymorphism in PLAU gene was rs2227564 C/T.Logistic analyses indicated that compared with CT and TT genotypes,CC genotype was risk factor for development of tongue carcinoma (adjusted OR =1.281,95 ％ CI 1.098-2.577,P =0.037).Conclusion PLAU polymorphism may be associated with development of tongue carcinoma.

BACKGROUND:Recently,acellular dermal matrix allograft has been widely used in the repair of oral mucosal defects.But little information is about the heterogeneous acellular dermal matrix (HADM) patch for repair of oral mucosal defects.OBJECTIVE:To investigate the efficacy and biosafety of HADM in the repair of oral mucosal defects.METHODS:In total 71 patients with oral benign or malignant tumors who had oral mucosal or soft tissue defects following tumorectomy were included in this study.These patients comprised 37 males and 34 females,and were averaged 45 years (range,20-70 years old).Of them,42 suffered from benign tumors and 29 from malignant tumors.HADM patches were used for repair of oral mucosal defects.The survival,color,and texture of HADM patches were observed.Shrinkage rate of HADM patches was compared between regions without supports from hard tissues (cheeks,tongue,and mouth floor) and with supports from hard tissues (gingiva,hard palate).RESULTS AND CONCLUSION:All 71 HADM completely survived.No necrosis and infection occurred.At 2 weeks after transplantation,(98.20±5.20) % of patch area survived.At 3 months after transplantation,patches showed similar color to surrounding oral mucosa and most patients had sense of tension to different extents.At 6 months after transplantation,cell creeping substitution and vasculadzation were successfully accomplished in the region of patch transplantation.Patches grew stably,with smooth pink appearance and good elasticity,and no further shdnkage.Patients felt normal.HADM patch shrank primarily at 2 weeks-1 month after transplantation,and tended to be stable at 3 months.There was no significant difference in tissue morphology between surgical region and normal tissue.The HADM shdnkage rate was significantly higher in regions without supports from hard tissues than regions with supports from hard tissues.These findings indicate that HADM patches have advantages in repair of oral mucosal defects including good histocompatibility,wide source,simple manipulation,and able to cover the wound surface in the early state,promote wound surface healing,and reduce scar formation,and can be used as an ideal matedal for repair of oral mucosal defects.

Insect-borne diseases are serious life-threatening infectious diseases. Rapid and accurate etiological diagnosis are the premise of timely and effective clinical treatments, reducing mortality and sequelae. Laboratory diagnoses of insect-borne diseases mainly focus on targeted serological detection and polymerase chain reaction, which is difficult to detect rare insect borne pathogens. At present, the metagenomic next-generation sequencing (mNGS) technology has moved from scientific research into clinical application. The detection of nucleic acid sequences of all organisms in infected samples by mNGS exhibited significant advantages in the diagnosis and traceability of rare pathogens. But at the same time, mNGS is also suffered with challenges such as background microbial interference, false results caused by database restrictions, pathogen resistance and host immune status information that are urgently needed for clinical treatments. This article systematically summarized applications of mNGS in the diagnosis of insect-borne pathogens and the challenges and difficulties it faces. With the continuous optimization of mNGS in the detection, it will bring new development and innovation to the etiology diagnosis of clinical infectious diseases.

Paget's disease of bone (PDB) is a common metabolic bone disease that is characterized by aberrant focal bone remodeling, which is caused by excessive osteoclastic bone resorption followed by disorganized osteoblastic bone formation. Genetic factors are a critical determinant of PDB pathogenesis, and several susceptibility genes and loci have been reported, including SQSTM1, TNFSF11A, TNFRSF11B, VCP, OPTN, CSF1 and DCSTAMP. Herein, we report a case of Chinese familial PDB without mutations in known genes and identify a novel c.163G>C (p.Val55Leu) mutation in FKBP5 (encodes FK506-binding protein 51, FKBP51) associated with PDB using whole-exome sequencing. Mutant FKBP51 enhanced the Akt phosphorylation and kinase activity in cells. A study of osteoclast function using FKBP51V55L KI transgenic mice proved that osteoclast precursors from FKBP51V55L mice were hyperresponsive to RANKL, and osteoclasts derived from FKBP51V55L mice displayed more intensive bone resorbing activity than did FKBP51WT controls. The osteoclast-specific molecules tartrate-resistant acid phosphatase, osteoclast-associated receptor and transcription factor NFATC1 were increased in bone marrow-derived monocyte/macrophage cells (BMMs) from FKBP51V55L mice during osteoclast differentiation. However, c-fos expression showed no significant difference in the wild-type and mutant groups. Akt phosphorylation in FKBP51V55L BMMs was elevated in response to RANKL. In contrast, IκB degradation, ERK phosphorylation and LC3II expression showed no difference in wild-type and mutant BMMs. Micro-CT analysis revealed an intensive trabecular bone resorption pattern in FKBP51V55L mice, and suspicious osteolytic bone lesions were noted in three-dimensional reconstruction of distal femurs from mutant mice. These results demonstrate that the mutant FKBP51V55L promotes osteoclastogenesis and function, which could subsequently participate in PDB development.
Acid Phosphatase ; Animals ; Asian Continental Ancestry Group ; Bone Diseases, Metabolic ; Bone Remodeling ; Bone Resorption ; Femur ; Humans ; Mice ; Mice, Transgenic ; Osteitis Deformans* ; Osteoblasts ; Osteoclasts ; Osteogenesis ; Phosphorylation ; Phosphotransferases ; Tacrolimus Binding Proteins ; Transcription Factors

Objective:To establish a multiplex detection method for monitoring viruses post-kidney transplantation based on droplet digital PCR (ddPCR) technology, evaluate its detection performance, and discuss its potential clinical application.Methods:We developed a ddPCR assay for the simultaneous detection of polyomavirus type 1 virus (BKV), polyomavirus type 2 virus (JCV), and torque teno virus (TTV), assessing its conformity rate, repeatability, and detection limit. 69 clinical urine samples were collected at the Shanghai Jiao Tong University School of Medicine affiliated with Renji Hospital between June and September 2023. The qPCR and ddPCR methods were employed to analyze the results, respectively. Spearman correlation analysis, Bland-Altman analysis, and Wilcoxon paired rank sum test were applied to analyze the detection results of the two methodologies.Results:The constructed ddPCR method had a 7/7 concordance rate for the seven reference samples. The precision reference samples were tested ten times, respectively, and their coefficients of variation were less than 10%. The detection limit was 10 copies/μl. The concordance rates of ddPCR and qPCR for BKV and JCV detection were more than 95% (66/69, 68/69). The correlation coefficients (R) of BKV and JCV viral loads were 0.874 and 0.840, respectively. The Bland-Altman analysis showed that the mean differences in BKV and JCV viral load detection between the two methods were -0.34 and -0.187, respectively. The Wilcoxon paired rank sum test showed that there were no statistically significant differences in the detection results of polyomaviruses between the two methods ( P>0.05). Conclusion:A ddPCR-based multiplex detection method for viruses post-renal transplantation was successfully developed, confirming its superior attributes of high accuracy, high sensitivity, and multi-detection capability. This method could be used for the quantitative detection of BKV, JCV, and TTV in clinical urine samples.

Familial hypercholesterolemia (FH) is a group of autosomal co-dominant genetic diseases mainly characterized by abnormal low-density lipoprotein related metabolism. It is one of the most common inherited diseases in children and one of the most serious lipid metabolism diseases which results in various life-threatening cardiovascular diseases and the complications. In recent years, the treatment protocols for FH have diversified thanks to the deeper understanding of the disease in China and abroad and the development of new lipid-lowering drugs. However, the current awareness and diagnosis rate of FH are very low. The treatment of the disease is much inadequate. This paper summarizes the clinical characteristics, diagnosis, screening strategy, and treatment of FH hoping to enhance the understanding and awareness of the disease in the society.