Craniocerebral injury with seawater immersion is a special kind of compound injury, with low temperature, high permeability, high alkali, high salt content, and bacterial infection being the main causes. The injury is also characterized with complex damage mechanisms, difficulty to treat, and poor prognosis. At present, the damage mechanisms of craniocerebral injury with seawater immersion are mainly studied by establishing the experimental animal models at the levels of tissue, cell, organelle, molecule, etc. However, the craniocerebral injury with seawater immersion is more complex than the simple onshore craniocerebral injury, therefore, a stable disease model is not easy to construct. Most researches on the specific injury mechanisms are relatively single and one-sided, with many different views in existence, and the damage mechanisms of craniocerebral injury with seawater immersion have hitherto not been clear. The authors reviewed the research progress in the damage mechanisms of craniocerebral injury with seawater immersion, in order to promote the in-depth study of the mechanism of craniocerebral injury with seawater immersion and provide reference for its clinical treatment.

Objective:To assess the application value of CNVPLUS ?-array for the genetic analysis of spinal muscular atrophy (SMA). Methods:From June 2021 to December 2022, CNVPLUS ?-array technique was employed to test the SMN1 and SMN2 genes among peripheral blood samples from 17 suspected SMA patients, 18 core families with suspected SMA, and 25 healthy individuals. The results were compared with those of multiple ligation-dependent probe amplification (MLPA) assay. Samples with inconsistent results were subjected to nested PCR or comprehensive analysis of SMA. This study was approved by the Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (Ethics No. XHEC-D-2024-038). Results:CNVPLUS ?-array has identified 35 SMA patients, 36 carriers, and 25 healthy individuals. In comparison, MLPA has identified 34 SMA patients, 36 carriers, and 26 healthy individuals. The two methods demonstrated a high consistency ( Kappa = 0.968, P<0.001). Additionally, CNVPLUS ?-array has identified one patient with compound heterozygous variants of SMN1 and one carrier with a [2+ 0] genotype. Conclusion:CNVPLUS ?-array not only can accurately determine the copy numbers of SMN1 and SMN2 genes, but also identify point mutations in SMN1 and [2+ 0] carriers, which has offered a new method for the genetic testing of SMA.

To explore the value of CNVPLUS ?-array in the diagnosis of the DMD gene. A retrospective study was performed on 96 children who were clinically diagnosed with Duchenne or Becker muscular dystrophies(DMD/BMD) at the Department of Pediatric Endocrinology and Genetics of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine from January 2014 to March 2023. DNA was extracted from these children′s peripheral blood and divided into two parts. Variations of the DMD gene were detected by using CNVPLUS ?-array and sequential testing of MLPA—NGS—Sanger. In the sequential method, single exon deletions detected by MLPA were first verified by polymerase chain reaction (PCR) and then were tested by Sanger′s sequencing if PCR results were normal. The results showed that, among 96 samples, 91 cases with the pathogenic variation of the DMD gene were detected by the CNVPLUS ?-array, including 76 cases with large deletion/duplication (copy number variation, CNV) and 15 cases with small variation (single nucleotide variant or small insertion/deletion, SNV/Indel). All samples were tested and diagnosed within 5 days. In contrast, 76 cases with pathogenic CNV and 20 cases with pathogenic SNV/Indel were detected in the DMD gene by sequential method. However, all of the experiments and diagnoses were completed within 48 days. Moreover, 5 cases with SNV/Indel in the DMD gene were correctly clustered after the operation mode was optimized. In summary, as a new micro-array integrating CNV and SNV probes, CNVPLUS ?-array can detect CNV and SNV/Indel in the DMD gene simultaneously while the application of CNVPLUS ?-array could save a lot of time and manpower. CNVPLUS ?-array had an excellent diagnostic performance for CNV of the DMD gene. As for SNV/Indel, the diagnostic performance was slightly poor and the operation mode should be optimized. If necessary, other testing technologies should be supplemented to reduce the risk of missed diagnosis.

To explore the value of CNVPLUS ?-array in the diagnosis of the DMD gene. A retrospective study was performed on 96 children who were clinically diagnosed with Duchenne or Becker muscular dystrophies(DMD/BMD) at the Department of Pediatric Endocrinology and Genetics of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine from January 2014 to March 2023. DNA was extracted from these children′s peripheral blood and divided into two parts. Variations of the DMD gene were detected by using CNVPLUS ?-array and sequential testing of MLPA—NGS—Sanger. In the sequential method, single exon deletions detected by MLPA were first verified by polymerase chain reaction (PCR) and then were tested by Sanger′s sequencing if PCR results were normal. The results showed that, among 96 samples, 91 cases with the pathogenic variation of the DMD gene were detected by the CNVPLUS ?-array, including 76 cases with large deletion/duplication (copy number variation, CNV) and 15 cases with small variation (single nucleotide variant or small insertion/deletion, SNV/Indel). All samples were tested and diagnosed within 5 days. In contrast, 76 cases with pathogenic CNV and 20 cases with pathogenic SNV/Indel were detected in the DMD gene by sequential method. However, all of the experiments and diagnoses were completed within 48 days. Moreover, 5 cases with SNV/Indel in the DMD gene were correctly clustered after the operation mode was optimized. In summary, as a new micro-array integrating CNV and SNV probes, CNVPLUS ?-array can detect CNV and SNV/Indel in the DMD gene simultaneously while the application of CNVPLUS ?-array could save a lot of time and manpower. CNVPLUS ?-array had an excellent diagnostic performance for CNV of the DMD gene. As for SNV/Indel, the diagnostic performance was slightly poor and the operation mode should be optimized. If necessary, other testing technologies should be supplemented to reduce the risk of missed diagnosis.

Posttraumatic stress disorder (PTSD), the most common mental illness after patients suffer physically or emotionally from traumatic events, can cause persistently strong, painful and terrible avoidance symptoms, emotional and cognitive changes, causing psychologically strong stimulation and heavy burden to patients and even leading to some extreme behavioral reactions. Traumatic brain injury (TBI) is an important factor in the occurrence of PTSD, both of which shares many similar pathological overlaps, and may coexist and interact with each other. The hippocampus and amygdala play a central role in the pathogenesis of PTSD, but the specific cellular and molecular and neural circuit mechanisms are still unclear. About two-thirds of the patients still meet the diagnostic criteria for PTSD after psychotherapy. However, the current treatment methods are complicated and not unified, and patients treated with medications may have adverse drug reactions, poor treatment outcomes and recurrence. Therefore, it is of great significance to further clarify the occurrence and development of PTSD in TBI patients. The authors reviewed the research progress of the pathogenesis and treatment of PTSD in TBI patients, so as to provide reference for the related research and treatment of PTSD in TBI patients.

Objective To investigate the expression of ENO3 gene in hepatocellular carcinoma and its effect on the sensitivity of hepatocellular carcinoma cell lines to OXA, and to explore the possible mechanism. Methods qRT-PCR and immunohistochemical analysis were used to detect the expression of ENO3 in 48 pairs of hepatocellular carcinoma tissues and normal liver tissues.Overexpression plasmid was constructed and transfected into MHCC97H and HepG2 cells.The experiments were divided into empty group (Vector group), ENO3 overexpression group (ENO3 group), empty+OXA group (Vector+OXA group) and ENO3 overexpression+OXA group (ENO3+OXA group).The proliferation ability of MHCC97H and HepG2 cells were detected by CCK-8 assay and cell colony formation assay.The apoptosis rate was determined by flow cytometry assay.Protein expressions of Bcl-2, Bax and Caspase-3 were detected by Western blot assay. Results The expression of ENO3 was significantly decreased in hepatocellular carcinoma tissues, compared with normal liver tissues adjacent to the carcinoma.The expression of ENO3 gene in the ENO3 overexpression group was significantly higher than that in the empty group.Compared with the Vector+OXA group, cell viability was decreased, apoptosis rate was increased, Bcl-2 protein expression was decreased, Bax and Caspase-3 protein expression were increased in the ENO3+OXA group. Conclusion The expression of ENO3 is down-regulated in hepatocellular carcinoma tissues, and the overexpression of ENO3 can enhance the sensitivity of hepatocellular carcinoma cell lines to oxaliplatin by promoting cell apoptosis.

Objective:To investigate the regulatory mechanism and clinical significance of RASSF5 in cutaneous melanoma.Methods:We used GEPIA and HPA online tools and TCGA and GSE53118 data sets for differential expression analysis and prognosis analysis; cBioPortal was applied to analyze the correlation between RASSF5 expression and gene mutation and methylation; "limma" R package was used to screen differential genes for GO analysis, KEGG analysis and protein-protein interaction analysis, and we also performed GSEA analysis on all genes; finally we used ESTIMATE and CIBERSORTx online tools to evaluate immune cell infiltration. The kruskal test was used to compare the differences between the groups for measurement data, the Kaplan-Meier method was used to draw the survival curve, and the Cox proportional hazard regression model was used for univariate and multivariate analysis.Results:This study found that in cutaneous melanoma, the expression level of RASSF5 was significantly lower than that of normal tissues, and the methylation level was negatively correlated. KEGG analysis and GSEA analysis showed that RASSF5 can be related to multiple signaling pathways such as immune regulation, KRAS, and P53. Further analysis showed that the expression level of RASSF5 was positively correlated with the degree of infiltration of a variety of tumor immune cells. Survival analysis found that the expression level of RASSF5 was correlated with the overall survival rate of patients with cutaneous melanoma, and multivariate regression analysis found that RASSF5 was an independent predictor of cutaneous melanoma. Finally, using the GSE53118 dataset to verify again, RASSF5 is related to the overall survival rate of patients with cutaneous melanoma and can be used as an independent predictor.Conclusions:RASSF5 may regulate the occurrence and development of cutaneous melanoma cells through a variety of ways. It is a potential biological prognostic marker and therapeutic target.

Objective:To investigate the regulatory mechanism and clinical significance of RASSF5 in cutaneous melanoma.Methods:We used GEPIA and HPA online tools and TCGA and GSE53118 data sets for differential expression analysis and prognosis analysis; cBioPortal was applied to analyze the correlation between RASSF5 expression and gene mutation and methylation; "limma" R package was used to screen differential genes for GO analysis, KEGG analysis and protein-protein interaction analysis, and we also performed GSEA analysis on all genes; finally we used ESTIMATE and CIBERSORTx online tools to evaluate immune cell infiltration. The kruskal test was used to compare the differences between the groups for measurement data, the Kaplan-Meier method was used to draw the survival curve, and the Cox proportional hazard regression model was used for univariate and multivariate analysis.Results:This study found that in cutaneous melanoma, the expression level of RASSF5 was significantly lower than that of normal tissues, and the methylation level was negatively correlated. KEGG analysis and GSEA analysis showed that RASSF5 can be related to multiple signaling pathways such as immune regulation, KRAS, and P53. Further analysis showed that the expression level of RASSF5 was positively correlated with the degree of infiltration of a variety of tumor immune cells. Survival analysis found that the expression level of RASSF5 was correlated with the overall survival rate of patients with cutaneous melanoma, and multivariate regression analysis found that RASSF5 was an independent predictor of cutaneous melanoma. Finally, using the GSE53118 dataset to verify again, RASSF5 is related to the overall survival rate of patients with cutaneous melanoma and can be used as an independent predictor.Conclusions:RASSF5 may regulate the occurrence and development of cutaneous melanoma cells through a variety of ways. It is a potential biological prognostic marker and therapeutic target.

Cas1-and-Cas2-mediated new spacer acquisition is an essential process for bacterial adaptive immunity. The process is critical for the ecology of the oral microflora and oral health. Although molecular mechanisms for spacer acquisition are known, it has never been established if this process is associated with the morphological changes of bacteria. In this study, we demonstrated a novel Cas2-induced filamentation phenotype in E. coli that was regulated by co-expression of the Cas1 protein. A 30 amino acid motif at the carboxyl terminus of Cas2 is necessary for this function. By imaging analysis, we provided evidence to argue that Cas-induced filamentation is a step coupled with new spacer acquisition during which filaments are characterised by polyploidy with asymmetric cell division. This work may open new opportunities to investigate the adaptive immune response and microbial balance for oral health.

Objective To explore the expression and localization of aquaporin 11(AQP11) in human term pregnancies with oligihydramnios, and its role in amniotic fluid balance.Methods We studied 55 patients who underwent elective cesarean sections, consisting of 25 patients with isolated oligohydramnios and 30 with normal amniotic fluid volume.Immunohistochemistry and reverse transcription polymerase chain reaction were employed to determine the expression and localization of AQP11 in the amnion, chorion and placenta.Results AQP11 protein was detected in expressed in the full-term pregnant women`s amnion, chorion and placenta.The expression in the amnion was positively correlated with amniotic fluid amount;the expression in the placenta was negatively correlated with amniotic fluid amount.The expression increased in the chorion with different amniotic fluid amount.Conclusion AQP11 plays an important role in regulating amniotic fluid balance.