Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

Methods: Cervical radiographs were analyzed. EOP hyperplasia was classified into three subtypes with standardized length measurements. Variables encompassed demographics, ONL-related indices, and sagittal parameters. Subtype comparisons and multivariate regression analyses (with EOP length as dependent variable) were conducted. Results: Analysis of 187 CSM patients (64.2% male) identified gender-specific patterns: males exhibited greater EOP length (9.4±6.8 mm vs. 4.6±3.4 mm, p<0.001). Type III EOP demonstrated male predominance (82.4% vs. type I 31.8%, type II 51.4%; p<0.001), with associated longer hyperplasia length (11.6±6.6 mm vs. type II 5.1±1.9 mm, p<0.001). Type III EOP was associated with higher ONL prevalence (type III 64.8% vs. type I 45.5%, type II 41.9%; p=0.010) and longer ONL osteophyte length (type III 18.8±9.8 mm vs. type I 14.2±8.1 mm, type II 14.2±9.4 mm; p=0.046). Multivariate regression confirmed male sex (β=–3.82, p=0.009), ONL osteophyte length (β=0.16, p=0.017), T1 slope (β=0.27, p=0.041), and spino-cranial angle (β=–0.19, p=0.009) as factors independently associated with EOP length (adjusted R²=0.382). Conclusions Severe EOP hyperplasia exhibits a male-predominant distribution pattern and demonstrates significant radiological associations with ONL and cervical sagittal imbalance in CSM patients. These findings advocate for EOP evaluation in clinical evaluations to identify high-risk biomechanical profiles.

Background Lung tissue fibrosis caused by exposure to free silica (SiO₂) dust is the core pathological feature of silicosis. Lipocalin-2 (LCN2), as a secreted glycoprotein, plays an important role in various inflammatory diseases, but its specific role in silicosis-induced inflammatory injury remains unclear. Objective To identify differentially expressed genes (DEGs) and enriched pathways in the lung tissues of rats with silicosis, and to explore the regulatory mechanism of LCN2 in silicosis inflammation. Methods Twenty specific pathogen-free male SD rats were randomly divided into a control group and a silicosis model group (n=10 per group). The silicosis model was established via a single intratracheal instillation of silicon dioxide (SiO₂) suspension (50 mg), while the control group received an equal volume of normal saline. In vitro, NR8383 cells were divided into a control group and a SiO₂ treatment group. Hematoxylin-eosin (HE) staining and Van Gieson (VG) staining were used to evaluate alveolar structure damage, inflammatory infiltration, and collagen deposition in the lung tissues. Transcriptomic sequencing was applied to screen for DEGs and enriched signaling pathways. Western blot was used to detect the protein expression of interleukin-6 (IL-6), E-cadherin (ECA), cluster of differentiation 36 (CD36), liver X receptor (LXR), ATP-binding cassette transporter A1 (ABCA1), and LCN2 in both rat lung tissues and NR8383 cells. Immunohistochemistry was used to further assess LCN2 expression and localization. Additionally, NR8383 cells were treated with the LCN2 inhibitor ZINC00640089 and assigned to four groups: control, ZINC00640089-only, SiO₂, and SiO₂+ZINC00640089. Western blot was used to evaluate the expression of LCN2, IL-6, and interleukin-1β (IL-1β). Results HE and VG staining revealed disorganized lung tissue structure, damaged alveolar walls, nodule formation, and increased collagen deposition in the silicosis model group compared to the controls. Transcriptomic analysis identified 2723 DEGs in the lung tissues of silicosis rats (312 down-regulated and 2411 up-regulated) with LCN2 expression being significantly up-regulated. These DEGs were primarily enriched in pathways related to the innate immune response, extracellular matrix (ECM)-receptor interaction, and inflammatory response. Immunohistochemical staining confirmed elevated LCN2 levels in the lung tissues of the model rats. Western blot demonstrated that the protein levels of IL-6, CD36, and LCN2 were significantly increased (P<0.05), whereas ABCA1 and ECA were significantly decreased in the silicosis group (P<0.05). Similarly, in SiO₂-treated NR8383 cells, IL-6, CD36, and LCN2 expressions significantly increased (P<0.05), while ABCA1 and LXR significantly decreased (P<0.05). Compared with the SiO₂ group, treatment with ZINC00640089 significantly reduced the expression levels of LCN2, IL-6, and IL-1β (P<0.05). Conclusion LCN2 is significantly upregulated in both the lung tissues of silicosis rats and SiO₂-treated NR8383 cells. Inhibiting LCN2 expression effectively reduces the SiO₂-induced inflammatory response, indicating that LCN2 serves as a potential therapeutic target for silicosis.

ObjectiveTo investigate the clinical characteristics of a child with Klippel-Trenaunay syndrome （KTS） complicated by lower gastrointestinal bleeding， for better understanding of this rare condition. MethodsA retrospective analysis was conducted on the clinical data of a pediatric KTS case with lower gastrointestinal bleeding admitted to the Department of Gastroenterology of the Affiliated Women and Children's Medical Center of Guangzhou Medical University in October 2024. Using "Klippel-Trenaunay Syndrome" "KTS" "Gastrointestinal Bleeding" as keywords， we searched for relevant literature in the Wanfang Chinese Database and PubMed database up to March 2025 in our analysis. ResultsThe 8‑year‑old boy was admitted with a 4‑year history of hematochezia that had worsened over the previous two weeks. He had been previously diagnosed with KTS in outpatient consultation for lower limb asymmetry. Gastrointestinal endoscopy revealed diffuse， tortuous， bluish‑purple vessels in the mucosa from the sigmoid colon to the distal rectum. Oral polyethylene glycol and thalidomide significantly improved his hematochezia during follow‑up. ConclusionKTS often involves multiple systems in children， requiring multidisciplinary collaboration. Comprehensive diagnostic procedures such as gastrointestinal endoscopy are essential for formulating individualized treatment plans. Thalidomide may play an active role in managing vascular malformations in the intestine， offering a promising therapeutic approach.

Background The residues of pharmaceutical and personal care products (PPCPs) in aquatic environments have become an increasingly prominent urban pollution issue, attracting widespread attention. The analysis of PPCPs pollution in water environments holds profound implications in Zhengzhou, a strategically important city in central China. Objective To analyze the pollution characteristics of PPCPs, such as antidepressants and antibiotics, in rivers of Zhengzhou and assess associated ecological risk. Methods Water samples were collected from three rivers of Zhengzhou, and 13 PPCPs (5 antibiotics and 8 antidepressants) were analyzed quantitatively by high performance liquid chromatography-triple quadrupole mass spectrometry (HPLC-MS/MS) after automatic solid phase extraction. Risk quotient (RQ) was applied to assess ecological risk of PPCPs with high concentration. Results The primary antibiotics pollutants were norfloxacin and ofloxacin, both with a detection rate of 100%. Among antidepressants, venlafaxine and citalopram showed the highest detection rates at 92.3% and 88.5%, respectively. The detected antibiotics with the highest average concentrations included ofloxacin and sulfamethoxazole with concentrations of 99.8 ng·L⁻¹and 96.2 ng·L⁻¹, respectively, while antidepressants venlafaxine and citalopram were detected with the highest average concentrations of 15.2 ng·L⁻¹and 1.35 ng·L⁻¹, respectively. The inter-river comparisons revealed statistically significant differences in contaminant loads (P<0.05). The sums of average PPCP concentrations at sampling points in the Jialu River and Suoxu River were 83.4 ng·L⁻¹ and 100.4 ng·L⁻¹, respectively. The Xiaoqing River exhibited higher pollution levels than both the Jialu and Suoxu Rivers, with a total average concentration of 478.4 ng·L⁻¹, where ofloxacin and sulfamethoxazole were identified as the predominant pollutants. The results of ecological risk assessment indicated the RQ contributed by sulfamethoxazole ranged between 0.50−0.95 in the Xiaoqing River, suggesting a controllable risk but requiring prioritized mitigation strategies. The RQ values of norfloxacin were distributed within the range of 0.10-0.30, indicating a moderate ecological risk. The RQ values for ofloxacin and venlafaxine remained below 0.10, indicating a lower risk level. Conclusion PPCPs contamination is positive in the rivers of Zhengzhou, and sulfamethoxazole and ofloxacin are the primary cantaminants. The Xiaoqing River exhibits the highest pollution levels. The initial risk assessment show that sulfamethoxazole and norfloxacin pose potential ecological risks, requiring prioritized contamination management.

Objective: To explore the differential lipid metabolites in the plasma of mice with idiopathic pulmonary fibrosis(IPF). Methods : Thirty SPF C57BL/6 male mice were randomly divided into 2 groups with 15 mice in each group. The experimental groups were divided into control group and bleomycin(BLM) group. The model of idiopathic pulmonary fibrosis was induced by one-time intratracheal infusion of BLM(1 mg/kg). Hematoxylin-eosin(HE) staining was used to observe the lung histopathology. The collagen fiber deposition in lung tissue was observed by Sirius red staining. The differential lipid metabolites in plasma of IPF mice were screened and enriched by lipidomics. Results : HE staining showed that the pulmonary tissue structure was disordered, alveolar septum was broken and alveolar wall was destroyed in BLM group. Sirius red staining showed a large amount of collagen fiber deposition in the lung interstitium of BLM group. The results of lipidomics analysis showed that the lipid metabolism profile of BLM group changed, 15 differential lipid metabolites were screened out, of which 11 differential lipid metabolites were up-regulated, and 4 differential lipid metabolites were down-regulated, mainly concentrated in glycerophosphoglycerophosphates, glycerophosphocholines, steroid lactones, etc. Conclusion The lipid metabolism profile of BLM group mice changes, differential lipid metabolites such as phosphoglycolate phosphatase(PGP)(18:0/18:0), PGP(i-12:0/i-24:0), PGP(i-13:0/a-25:0), and phosphatidylcholine(PC)(18:0/14:0), PC(18:3/16:0), lysophosphatidylcholine(LPC)(16:1), and LPC(18:3) may play an important role in the progression of IPF. These findings provide a new reference for further study of the molecular mechanism of IPF, and also provide a potential new target for clinical treatment.

Objective:To discuss the effect of KH-type splicing regulatory protein(KHSRP)on the malignant biological behaviors of colorectal cancer(CRC)by activating the Janus kinase(JAK)/signal transducer and activator of transcription(STAT)signaling pathway,and to clarify its possible mechanism.Methods:The CRC tissue and adjacent normal tissue from 64 CRC patients were selected.The human CRC cells(HT29,SW620,SW480,DLD-1,LOVO,and RKO)and normal human colorectal mucosal FHC cells were cultured in vitro.The total RNA from CRC tissue and cells were extracted,real-time fluorescence quantitative PCR(RT-qPCR)was used to detect the expression levels of KHSRP in the CRC tissue,adjacent normal tissue and all kinds of cells.The HT29 and SW620 cells were divided into sh-NC group(lentiviral plasmid inserted with non-targeting nucleotide sequence)and sh-KHSRP group(transfected with KHSRP knockdown lentivirus).The SW480 and DLD-1 cells were divided into oe-NC group(lentiviral plasmid inserted with non-targeting nucleotide sequence)and oe-KHSRP group(transfected with KHSRP overexpression lentivirus).Immunohistochemistry(IHC)staing in method was used to analyze the expressions of KHSRP in CRC tissue and adjacent normal tissue;CCK-8 method was used to detect the proliferation activities of the CRC cells in various groups;Transwell assay was used to detect the numbers of migration and invasion cells in various groups;Western blotting method was used to detect the expression levels of KHSRP,JAK1,phosphorylated JAK1(p-JAK1),JAK2,phosphorylated JAK2(p-JAK2),STAT1,STAT2,STAT3,and STAT5 proteins in the CRC cells in various groups.The subcutaneous xenograft tumor models in the nude mice were used to measure the tumor volumes and weights of the mice in various groups.Results:Compared with adjacent normal tissue,the expression level of KHSRP in the CRC tissue was increased(P<0.05).Compared with FHC cells,the expression levels of KHSRP in the CRC cells were increased(P<0.05).Therefore,the HT29 and SW620 cells were selected for knockdown of KHSRP,while the SW480 and DLD-1 cells were selected for over-expression of KHSRP.The Western blotting results showed that the expression amounts of KHSRP protein in the CRC tissue and cells were higher than those in adjacent normal tissue and FHC cells.The IHC results showed that compared with adjacent normal tissue,the expression level of KHSRP protein in CRC tissue was increased(P<0.01).The RT-qPCR results showed that compared with sh-NC group,the expression levels of KHSRP mRNA in the HT29 and SW620 cells in sh-KHSRP group were decreased(P<0.01);compared with oe-NC group,the expression levels of KHSRP mRNA in the SW480 and DLD-1 cells in oe-KHSRP group were increased(P<0.01),indicating successful transfection.The CCK-8 results showed that compared with sh-NC group,the proliferation activities of the HT29 and SW620 cells in sh-KHSRP group after knockdown of KHSRP were decreased(P<0.05 or P<0.01);compared with oe-NC group,the proliferation activities of the SW480 and DLD-1 cells in oe-KHSRP group after over-expression of KHSRP were increased(P<0.05 or P<0.01).Compared with sh-NC group,the numbers of migration and invasion cells in the HT29 and SW620 cells in sh-KHSRP group after knockdown of KHSRP were decreased(P<0.05);compared with oe-NC group,the numbers of migration and invasion cells in the CRC cells in oe-KHSRP group after over-expression of KHSRP were increased(P<0.05).After knockdown of KHSRP,the tumor volume and weight in sh-KHSRP group were smaller than those in sh-NC group(P<0.05 or P<0.01),while the tumor volume andweight in oe-KHSRP group were larger than those in oe-NC group after over-expression of KHSRP(P<0.05 or P<0.01).Compared with sh-NC group,the expression levels of JAK1,p-JAK1,and STAT3 proteins in the CRC cells in sh-KHSRP group were significantly decreased(P<0.05 or P<0.01);compared with oe-NC group,the expression levels of JAK1,p-JAK1,and STAT3 proteins in the CRC cells in oe-KHSRP group were significantly increased(P<0.05 or P<0.01).Conclusion:High expression of KHSRP promotes the proliferation,migration,and invasion of the CRC cells and enhances the growth of subcutaneous xenograft tumors in the mice;its mechanism may be associated with its activation of the JAK1/STAT3 signaling pathway.

Objective To investigate the diagnostic value of serum silent information regulator factor 2-re-lated enzyme 1(SIRT1)and histone deacetylase 4(HDAC4)levels in sepsis complicated with acute kidney in-jury(AKI).Methods From January 2019 to December 2023,120 patients with sepsis complicated with AKI(AKI group)and 60 patients with simple sepsis(non-AKI group)were selected as the study objects.Clinical data of the two groups were collected,and serum SIRT1 and HDAC4 levels were detected by enzyme-linked immunosorbent assay.With sepsis complicated with AKI as the dependent variable,multivariate Logistic re-gression was used to analyze the influencing factors,and receiver operating characteristic(ROC)curve was drawn to evaluate the diagnostic efficacy of serum SIRT1 and HDAC4 levels in sepsis complicated with AKI.Results Compared with non-AKI group,serum SIRT1 level was decreased and HDAC4 level was increased in AKI group,the differences were statistically significant(P＜0.05).Compared with non-AKI group,the pro-portion of septic shock,kidney replacement therapy,sequential organ failure assessment(SOFA)score and se-rum creatinine level in AKI group were higher,and the differences were statistically significant(P＜0.05).Multivariate Logistic regression analysis showed that the independent risk factors of sepsis complicated with AKI were septic shock,increased SOFA score,increased serum creatinine and increased HDAC4(P＜0.05),and the independent protective factor was increased SIRT1(P＜0.05).ROC curve analysis results showed that the area under the curve(AUC)of serum SIRT1 and HDAC4 combined diagnosis of sepsis complicated with AKI was 0.891,which was larger than the AUC of serum SIRT1 and HDAC4 alone diagnosis(Z=3.681,3.081,P＜0.001,P=0.002).Conclusion The decrease of serum SIRT1 level and the increase of HDAC4 level are related to sepsis complicated with AKI,and the combination of serum SIRT1 and HDAC4 level has high diagnostic value.

Objective To investigate the expression of circular RNA ubiquitin-associated protein 2(circ-UBAP2)and RAS-related C3 botulinum toxin substrate 1(Rac1)in cervical cancer tissues and their relation-ship with radiotherapy efficacy and prognosis.Methods A total of 96 patients with cervical cancer admitted to the hospital from January 2019 to May 2021 were selected as the research subjects.Detect the expression of circ-UBAP2 and Rac1 in the cancer tissues and adjacent tissues of the patients.The clinical data of the patients were recorded.According to the radiotherapy efficacy,they were divided into patients with effective radiother-apy(n=62)and patients with ineffective radiotherapy(n=34),and the relationship between the expressions of circ-UBAP2 and Rac1 and the radiotherapy efficacy was analyzed.The survival conditions of the patients were followed up for 3 years and they were divided into the survival group(n=81)and the death group(n=15),and the clinical data of the two groups were compared.The relationship between the expressions of circ-UBAP2 and Rac1 and the survival prognosis of patients was analyzed by Kaplan-Meier.The risk factors influ-encing the prognosis of patients were analyzed by Cox regression.Results The circ-UBAP2 expression and the positive rates of Rac1 expression in cancer tissues were both higher than those in adjacent tissues,and the difference was statistically significant(P＜0.05).The effective rate of radiotherapy in patients with high ex-pression of circ-UBAP2 and Rac1 in cancer tissues was lower than that in patients with low expression of circ-UBAP2 and Rac1,and the difference was statistically significant(P＜0.05).The 3-year overall survival rate and average survival duration of patients with high expression of circ-UBAP2 and Rac1 in cancer tissues were lower than those of patients with low expression of circ-UBAP2 and Rac1,and the difference was statistically significant(P＜0.05).There were statistically significant differences in clinical stage,tumor differentiation degree,expressions of circ-UBAP2 and Rac1,and the proportion of lymph node metastasis between the two groups(P＜0.05).The results of Cox regression analysis showed that clinical stage Ⅱ B-Ⅲ,poorly differen-tiated tumor degree,high expression of circ-UBAP2 and Rac1,and lymph node metastasis were risk factors af-fecting the prognosis of patients(P＜0.05).Conclusion circ-UBAP2 and Rac1 are abnormally highly ex-pressed in cervical cancer tissues and are related to the radiotherapy efficacy and prognosis.

Objective To explore the potential clinical value of the ratio of glycated albumin to albumin(GA/ALB)in the occurrence of heart failure(HF)among patients with coronary atherosclerotic heart disease(CHD).Methods A total of 337 CHD patients admitted to the Department of Cardiology in Shanxi Provincial People's Hospital from July 2023 to June 2024 were selected in this study.CHD patients were divided into HF group and non-HF group based on whether they progressed to HF.The clinical data and laboratory parame-ters of the two groups were compared.Restricted cubic spline curve was used to analyze the relationship be-tween GA/ALB levels and the risk of HF in CHD patients.Receiver operating characteristic curve was applied to evaluate the diagnostic efficacy of GA/ALB,GA,platelet to lymphocyte ratio(PLR),and monocyte to lym-phocyte ratio(MLR)in CHD patients with the occurrence of HF.Logistic regression was used to explore the relationship between serum GA/ALB levels and the risk of CHD patients occurrence of HF,and to analyze the degree of influence and stability of subgroup variables on results.Results There were statistically significant differences in GA/ALB,GA,PLR,MLR,and other indicators between the HF group and the non-HF group in CHD patients(P＜0.05).A non-linear relationship was observed between GA/ALB levels and the risk of HF in CHD patients.When the value of GA/ALB multiplied by 10 was less than 5.751,the risk of HF in CHD pa-tients increased with the increase of GA/ALB levels(P＜0.001).GA/ALB was an effective predictor for HF occurrence in CHD patients.Multivariable Logistic regression model showed that GA/ALB was an independ-ent risk factor for CHD patients with occurrence of HF.Subgroup analysis also confirmed the stability of GA/ALB in predicting the occurrence of HF in CHD patients.Conclusion GA/ALB is an independent risk factor for the occurrence of HF in CHD patients,and monitoring GA/ALB levels provides predictive value for the oc-currence of HF in these patients.