Objective:To identify diagnostic markers related to oxidative stress in chronic rhinosinusitis with nasal polyps (CRSwNP) by analyzing transcriptome sequencing data, and to investigate their roles in CRSwNP.Methods:Utilizing four CRSwNP sequencing datasets, differentially expressed genes (DEGs) analysis, weighted gene co-expression network analysis (WGCNA), and three machine learning methods for Hub gene selection were performed in this study. Subsequent validation was carried out using external datasets, as well as real-time quantitative polymerase chain reaction (Real-time qPCR), and immunofluorescence staining of clinical samples. Moreover, the diagnostic efficacy of the genes was assessed by receiver operating characteristic (ROC) curve, followed by functional and pathway enrichment analysis, immune-related analysis, and cell population localization. Additionally, a competing endogenous RNA (CeRNA) network was constructed to predict potential drug targets. Statistical analysis and plotting were conducted using SPSS 26.0 and Graphpad Prism9 software.Results:Through data analysis and clinical validation, CP, SERPINF1 and GSTO2 were identified among 4 138 DEGs as oxidative stress markers related to CRSwNP. Specifically, the expression of CP and SERPINF1 increased in CRSwNP, whereas that of GSTO2 decreased, with statistically significant differences ( P<0.05). Additionally, an area under the curve (AUC)>0.7 indicated their effectiveness as diagnostic indicators. Importantly, functional analysis indicated that these genes were mainly related to lipid metabolism, cell adhesion migration, and immunity. Single-cell data analysis revealed that SERPINF1 was mainly distributed in epithelial cells, stromal cells, and fibroblasts, while CP was primarily located in epithelial cells, and GSTO2 was minimally present in the epithelial cells and fibroblasts of nasal polyps. Consequently, a CeRNA regulatory network was constructed for the genes CP and GSTO2. This construction allowed for the prediction of potential drugs that could target CP. Conclusion:This study successfully identifies CP, SERPINF1 and GSTO2 as diagnostic and therapeutic markers related to oxidative stress in CRSwNP.

Objective To observe the value of intratumoral and peritumoral CT radiomics for evaluating KRAS gene status in patients with colorectal adenocarcinoma.Methods Totally 245 patients with colorectal adenocarcinoma were retrospectively enrolled and divided into mutant group(n=139)and wild group(n=106)according to KRAS gene status,also divided into training set(n=171)and test set(n=74)at a ratio of 7∶3.Clinical data were compared between groups,and clinical factors were screened with logistic regression analysis to establish a clinical model.Based on enhanced venous phase CT images,intratumoral volume of interest(VOI),peritumoral VOI,and intratumoral+peritumoral VOI were delineated,radiomics features were extracted,and radiomics models were constructed.The combination model was constructed based on the best radiomics model combined with clinical factors.The value of each model for evaluating KRAS gene status in patients with colorectal adenocarcinoma was analyzed.Results Significant differences of patients’gender and carcinoembryonic antigen(CEA)were found between mutant group and wild group(both P＜0.05),which were independent impact factors of KRAS gene status in patients with colorectal adenocarcinoma(both P＜0.05).The area under the curve(AUC)of clinical model for evaluating KRAS gene status in patients with colorectal adenocarcinoma in training set and test set was 0.633 and 0.658,respectively.Intratumoral+peritumoral 3 mm model was the best radiomics model,with AUC of 0.921 and 0.894 in training set and test set,respectively.AUC of the combination model in training set and test set was 0.949 and 0.956,respectively.In training set,significant differences of AUC were found between clinical model and intratumoral+peritumoral 3 mm model,also between clinical model and combination model(both P＜0.001),while in test set,significant differences of AUC were found between each two models(all P＜0.05).Conclusion Intratumoral+peritumoral 3 mm radiomics based on enhanced venous phase CT could help to evaluate KRAS gene status in patients with colorectal adenocarcinoma.Combining with patients’gender and CEA could further improve efficacy of this model.

Objective To observe the value of contrast-enhanced CT radiomics combined with clinical and hematology indicators for predicting lymph node(LN)metastasis(LNM)of esophageal squamous cell carcinoma(ESCC).Methods Totally 218 ESCC patients were retrospectively enrolled.Stage pN1 and pN2 were clustering as LNM(n=90),while stage pN0 were taken as non-LNM(n=128).The patients were divided into training set(n=174)and test set(n=44)at the ratio of 8∶2.In training set,clinical and LN imaging features which could be used to independently judge LNM were screened and a clinical-imaging model was constructed.The hematological indicators that might be associated with ESCC LNM were screened,and a hematological model was constructed.Radiomics features in LN ROI and ESCC volume of interest(VOI)were extracted based on venous-phase contrast-enhanced CT images,and those might be associated with LNM were screened,and a radiomics model was constructed.Finally a combined model was constructed based on all the above features.The efficacy of each model for diagnosing LNM was evaluated with the area under the curve(AUC)of receiver operating characteristic curves,and the clinical net benefit was evaluated using decision curve analysis(DCA).Results Body mass index(BMI)and internal necrosis of target LN were both independent judging factors for ESCC LNM(both P＜0.05),and AUC of clinical-imaging model for diagnosing LNM in training and test sets was 0.747 and 0.687,respectively.Seven hematological indicators were included in hematological model,and AUC in training and test sets was 0.623 and 0.583,respectively.Ten LN radiomics features and 15 ESCC radiomics features were included in radiomics model,and AUC in training and test sets was 0.769 and 0.745,respectively.AUC of the combined model for diagnosing LNM in training and test sets was 0.822 and 0.739,respectively,better than other models in training set(all P＜0.05),but no significantly different in test set(all P＞0.05).DCA showed that combined model had higher net gain than the other models in 0.55-0.80 threshold probability interval.Conclusion Combined model based on venous-phase contrast-enhanced CT radiomics and clinical and hematology indicators could relatively effectively evaluate ESCC LNM,which might bring some promotions in clinical benefit.

Purpose To explore the ultrasound features and early diagnostic clues of fetal myocardial non-compaction.Materials and Methods The clinical data and echocardiographic data of four fetuses who underwent fetal echocardiography in Henan Provincial People's Hospital from January 2015 to February 2023 and were confirmed to have myocardial non-compaction by pathological finding or postnatal examination were collected,and analyzed.Results A total of four fetuses diagnosed as myocardial non-compaction by prenatal ultrasound:two involved the left ventricle with isolated lesions,and apical myocardial non-compaction was confirmed by postnatal echocardiography;two involved the biventricles,and both of which were pathologically confirmed after induction of labor.The prenatal ultrasound of fetal myocardial involvement in four cases showed that:(1)the affected myocardium showed a bilayer structure:the outer layer was compacted myocardium,which showed thin and compacted homogeneous hypoechoic;the inner layer was loose and thickened non-compacted myocardium with enhanced echogenicity;(2)color Doppler flow imaging:the non-compacted myocardium showed sieve mesh blood flow with ventricular communication.Some cases were associated with cardiac enlargement and arrhythmia.Conclusion Prenatal echocardiography can diagnose fetal myocardial non-compaction with a characteristic echographic presentation.Localized myocardial thickening and echogenic enhancement,cardiac enlargement and arrhythmia may be important clues to identify fetal myocardial non-compaction.

Objective:To detect gene mutations in a pedigree with dominant dystrophic epidermolysis bullosa (DDEB) .Methods:A 20-year-old male proband presented with repeated blisters, ulceration, pigmentation, scars on the limbs, and deformation of the nails/toenails after birth. There were 5 patients in the 3-generation family, and they all presented with typical skin lesions. Peripheral blood samples were obtained from 14 members of the pedigree (including the 5 patients) and 100 unrelated healthy controls. Whole-exome sequencing was performed in the proband to identify relevant mutation sites, which were then confirmed in the family by Sanger sequencing.Results:Genetic testing indicated that the proband and the other 4 patients all carried a missense mutation (c.7885G>A) in exon 107 of the COL7A1 gene, resulting in the substitution of glycine by arginine at amino acid position 2629 (p.G2629R). The mutation was identified neither in the 9 healthy relatives nor in the 100 unrelated healthy controls. The mutation co-segregated with DDEB in the family, and was not included in databases such as Pubmed, HGMD or ClinVar, suggesting it was a novel missense mutation. The amino acid encoded by this mutation may alter the structure of type Ⅶ collagen, thereby affecting its function.Conclusion:A novel missense mutation was identified in exon 107 of the COL7A1 gene in the family with DDEB, expanding the spectrum of mutations in the COL7A1 gene.

Abstract: Objective　To investigate the pollution characteristics of major heavy metals in PM2.5 in urban areas of Haikou City, and to assess their potential health risks to humans. Methods　From 2021 to 2022, samples of atmospheric PM2.5 were monthly collected from the typical urban areas of Haikou, and the concentrations of nine heavy metal elements including arsenic (As), cadmium (Cd), chromium (Cr), lead (Pb), manganese (Mn), nickel (Ni), copper (Cu), vanadium (V), and zinc (Zn) were measured using the inductively coupled plasma mass spectrometry (ICP-MS). The health risk assessment of these heavy metals was conducted using a health risk model. Results　The average mass concentration of PM2.5 in Haikou was (20.506±13.054) µg/m³, with a range of 4.000 to 64.000 µg/m³ during the year 2021 and 2022. The PM2.5 concentrations showed significant seasonal variations: highest in winter, followed by autumn and spring, and lowest in summer. The total concentration of the nine heavy metal elements ranged from 0.030 to 138.000 ng/m³, with Zn, Mn, and Pb having the highest concentrations, particularly notable during the autumn and winter seasons. Enrichment factor (EF) analysis indicated moderate enrichment (10 Cd > Cr > As > Pb > V > Zn > Cu > Ni. The total non-carcinogenic hazard index (HI) ranged from 0.171 to 0.361. The inhalation incremental lifetime carcinogenic risk values (ILCR) for the four elements Cr, As, Cd, and Ni ranged from 2.911×10-7 to 1.558×10-5, with ILCR decreasing in that order. The total carcinogenic risk index (TR) varied between 1.502×10-5 and 3.169×10-5, with risk intensities for HI and TR in the order: children > adult males > adult females. Conclusions　The average PM2.5 concentration in the Haikou urban area is lower than the 24-hour average concentration limit of Grade I (35 µg/m3) in the "Environmental Air Quality Standard" (GB 3095-2012), but still higher than the control standard recommended by the WHO in 2021 (15 µg/m3). The non-carcinogenic health risks of the nine heavy metal elements detected in PM2.5 are not significant, but Cr and As have potential carcinogenic risks, with children being more vulnerable than other populations.

Circadian disruption is being increasingly recognized as a critical factor in the development and progression of Parkinson’s disease (PD). This review aims to provide an in-depth overview of the relationship between circadian disruption and PD by exploring the molecular, cellular, and behavioral aspects of this interaction. This review will include a comprehensive understanding of how the clock gene system and transcription–translation feedback loops function and how they are diminished in PD. The article also discusses the role of clock genes in the regulation of circadian rhythms, as well as the impact of clock gene dysregulation on mitochondrial function, oxidative stress, and neuroinflammation, including the microbiota-gut-brain axis, which have all been proposed as being crucial mechanisms in the pathophysiology of PD. Finally, this review highlights potential therapeutic strategies targeting the clock gene system and circadian rhythm for the treatment of PD.