Objective To introduce the causes of accidents and the diagnosis and treatment of two patients with radiation-induced skin injury admitted to our hospital in 2023, and to provide a reference for the clinical treatment of subsequent radiation-induced skin injury. Methods The clinical treatment process of two patients with acute skin injury caused by external radiation exposure were summarized and analyzed. Results The exposure history of the two patients was reconstructed, the flaw detection scenario was simulated, the biological dose and hand skin exposure dose were estimated, and the infrared thermal imaging device was used for dynamic monitoring. A comprehensive analysis was conducted based on clinical manifestations and other data. The diagnosis of “Xie” was excessive exposure combined with acute radiation-induced skin injury on both hands (Grade IV for the right hand palm, index finger, and middle finger and Grade II for the left hand little finger). The diagnosis of “Hao” was acute radiation-induced skin injury on both hands (Grade I). The two patients received different clinical treatment measures: “Xie” was treated with both local and systemic therapies, while “Hao” was mainly treated with systemic therapy. Conclusion After systematic and effective treatment, the radiation-induced skin injuries healed in both patients.

OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

Objective To investigate the prevalence of Paragonimus infection in freshwater crabs from selected areas of Yunnan Province, and to perform molecular characterization and phylogenetic analysis of the isolated parasites based on the internal transcribed spacer 2 (ITS2) and cytochrome c oxidase subunit I (COI) gene sequences. Methods Freshwater crabs were collected from both local markets and natural streams in Zhaotong City, Pu’er City, Dehong Dai and Jingpo Autonomous Prefecture, Baoshan City, Honghe Hani and Yi Autonomous Prefecture and Lincang City of Yunnan Province from May to August 2025. Paragonimus metacercariae were isolated using a sieve and sedimentation method. After morphological identification of the metacercariae, the infection rate and infection intensity of Paragonimus in freshwater crabs were calculated. Then genomic DNA was extracted from an individual metacercaria, and ITS2 and COI gene fragments were amplified using a PCR assay and sequenced. The obtained sequences were aligned with those available in the GenBank database. Genetic distances were calculated with the software MEGA 11.0 based on the Kimura 2-parameter model, and phylogenetic trees were built using the neighbour-joining method. Results A total of 600 freshwater crabs were collected, with 18 positive for Paragonimus metacercariae. The prevalence of Paragonimus infection was 12.00% (18/150) in freshwater crabs from Zhaotong City, while no Paragonimus infection was detected in crabs from other five prefectures (cities). Twenty metacercariae were recovered, with an overall infection intensity of 1.11 metacercariae per crab. Morphological observation revealed two types of Paragonimus metacercariae, including 19 resembling P. skrjabini, and 1 resembling P. paishuihoensis. Ten metacercariae of distinct morphotypes were randomly selected for molecular identification, and sequence alignment and phylogenetic analysis of ITS2 and COI genes identified 9 as P. skrjabini and 1 as P. paishuihoensis. The nine ITS2 gene sequences shared 98.34% to 100.00% homology with the reference sequence of P. skrjabini (GenBank accession number: KX129924.1), and the single ITS2 gene sequence showed 100.00% homology with the reference sequence of P. paishuihoensis (GenBank accession number: OM401939.1), while its COI sequence showed 98.80% homology with the reference sequence of P. paishuihoensis (GenBank accession number: AB679288.1). Phylogenetic analysis further confirmed that the 10 sequences were clustered separately into the clades of P. skrjabini and P. paishuihoensis. Conclusions This study reports the first detection of P. paishuihoensis in freshwater crabs from Zhaotong City, Yunnan Province, and confirms P. skrjabini as the dominant Paragonimus species in this region. Molecular identification and phylogenetic analysis based on ITS2 and COI genes are effective to distinguish Paragonimus species, which provides the scientific evidence for precise control of paragonimiasis in Yunan Province.

ObjectiveTo investigate the material basis and mechanism of action of Tuoli Xiaodu San in treating ulcerative colitis （UC） by integrating transcriptomics， network pharmacology， and experimental validation. MethodsNetwork pharmacology was initially employed to screen the active components and potential mechanisms of Tuoli Xiaodu San for treating UC. A UC mouse model was established by dextran sulfate sodium （DSS） induction. The mice were divided into the following groups： normal， model， high-dose （11.3 g·kg^-1） Tuoli Xiaodu San， low-dose （5.7 g·kg^-1） Tuoli Xiaodu San， and positive control （mesalazine， 0.4 g·kg^-1）. Intragastric administration commenced on day 1 of modeling and continued for 7 consecutive days. The disease activity index （DAI） was assessed daily. Hematoxylin-eosin （HE） staining was used to observe colonic pathological changes. Serum levels of tumor necrosis factor-alpha （TNF-α）， interleukin-1 beta （IL-1β） and interleukin-6 （IL-6） were measured by enzyme-linked immunosorbent assay （ELISA）. Transcriptome sequencing was performed on mouse colonic tissues， and the results were integrated with network pharmacology findings for in-depth analysis of Tuoli Xiaodu San's potential mechanisms in treating UC. Finally， the expression of key genes and proteins in the identified signaling pathways were detected using Western blot and Real-time polymerase chain reaction （Real-time PCR）. ResultsThe combined analysis of network pharmacology and transcriptomics results showed that the multi-pathway network with phosphatidylinositol 3-kinase/protein kinase B （PI3K/Akt） signaling pathway as its core was the key mechanism of Tuoli Xiaodu San in the treatment of UC. Tuoli Xiaodu San administration significantly ameliorated weight loss， diarrhea， and bloody stools in UC mice， reduced the DAI scores （P<0.05， P<0.01）， lowered the colonic histopathological scores （P<0.01）， alleviated colon shortening （P<0.01）， and downregulated serum levels of TNF-α， IL-1β， and IL-6 （P<0.05， P<0.01）. Molecular biology experiments confirmed that Tuoli Xiaodu San significantly inhibited the mRNA and protein expression， as well as the phosphorylation levels， of PI3K， Akt， and p65 in colonic tissues （P<0.05， P<0.01）. ConclusionTuoli Xiaodu San can regulate the multi-pathway network with PI3K/Akt as its core through multi-component synergy， thereby reducing colonic inflammatory damage and exerting a therapeutic effect on UC.

Objective: To investigate the incidence and independent risk factors of adverse events (AEs) associated with therapeutic plasma exchange (TPE) in patients undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT), and to provide evidence to support the safe use of TPE in clinical practice. Methods: This retrospective study included 167 allo-HSCT recipients who underwent a total of 385 TPE procedures between March 2022 and December 2023. Patients were divided into two groups according to the occurrence of TPE-related AEs. Baseline characteristics, plasma exchange parameters, and clinical features were collected. Univariate analysis and multivariable Firth logistic regression were performed to identify independent risk factors for AEs. Results: A total of 385 TPE procedures were performed in 167 allo-HSCT patients, and 33 patients (19.8%) experienced TPE-related AEs. Among the 33 patients who experienced AEs, allergic reactions were the most common (n=18, 54.5%), followed by blood pressure fluctuations (n=11, 33.3%) and hypocalcemia (n=4, 12.1%). Most AEs were classified as grade II (n=23, 69.7%), and no grade IV (fatal) events were observed. Univariate analysis demonstrated a significant difference in the incidence of AEs among different hematocrit (HCT) categories (<20%, 20%-30%, and>30%) (Fisher's exact test, P=0.022). Although the overall difference was statistically significant, none of the pairwise comparisons remained significant after Bonferroni correction (adjusted P>0.0167). Multivariable Firth logistic regression identified higher HCT levels, analyzed as a continuous variable (OR=1.07, 95% CI: 1.01-1.13, P=0.020), and TPE performed for cytokine release syndrome (CRS) (OR=9.21, 95% CI: 1.25-78.00, P=0.030) as potential independent risk factors for TPE-related AEs. Receiver operating characteristic (ROC) curve analysis showed that HCT had an AUC of 0.67 (95% CI: 0.57-0.77) for predicting AEs, with an optimal cutoff value of 24.5%, a sensitivity of 60.6%, and a specificity of 75.4%. Using this cutoff, the AEs rate was significantly higher in patients with HCT≥24.5% than in those with HCT<24.5% (37.7% vs 11.4%, P<0.001). Conclusion: A-mong allo-HSCT patients receiving TPE, allergic reactions were the predominant AEs. Higher HCT levels and TPE performed for CRS may be associated with an increased risk of AEs. HCT≥24.5% may help identify patients requiring intensified monitoring, although its discriminatory ability is moderate (AUC=0.67) and it should not be used as a standalone criterion for clinical decision-making. Findings regarding the CRS subgroup require validation in larger cohorts. Optimizing extracorporeal circuit priming and strengthening peri-procedural monitoring may help improve the safety of TPE.

ObjectiveTo investigate the mechanism by which Bushao Tiaozhi capsules （BSTZ） ameliorate hyperlipidemia based on untargeted metabolomics and targeted bile acid quantification. MethodsA rat model of hyperlipidemia was established with a high-fat diet. The rats were randomized into five groups： normal control， model， atorvastatin calcium （1.8 mg·kg^-1）， and low-dose （2.88 g·kg^-1） and high-dose （5.76 g·kg^-1） BSTZ groups. All treatments were administered for four consecutive weeks. Serum levels of total cholesterol （TC）， triglycerides （TG）， low-density lipoprotein cholesterol （LDL-C）， and high-density lipoprotein cholesterol （HDL-C） were measured by biochemical assays. Hepatic histopathological changes were evaluated via hematoxylin-eosin （HE） staining， and lipid droplet deposition was assessed by oil red O staining. Integrated untargeted metabolomics and targeted bile acid quantification were employed to investigate BSTZ-induced alterations in hepatic metabolic profile and bile acid profile. Additionally， correlation analyses were conducted between differential bile acids and lipid parameters to identify key bile acids. ResultsCompared with the normal control group， the model group exhibited elevated serum TC， TG， and LDL-C levels （P<0.01） and a reduced HDL-C level （P<0.01）， along with marked hepatic steatosis and extensive lipid droplet deposition. Compared with the model group， all BSTZ treatment groups showed decreased TC， TG， and LDL-C levels （P<0.01） and increased HDL-C levels （P<0.01）， accompanied by notably alleviated hepatic steatosis and lipid deposition. Untargeted metabolomics and targeted bile acid quantification revealed that BSTZ significantly remodeled the hepatic bile acid profile， characterized by elevated levels of secondary bile acids （DCA， HDCA， TDCA， and TLCA） and reduced levels of primary bile acids （CDCA and TCDCA）. Correlation analyses further demonstrated strong associations between differential bile acids and lipid parameters： elevated secondary bile acids were negatively correlated with serum TC， TG， and LDL-C levels， whereas primary bile acids were positively correlated with these parameters. ConclusionBSTZ can ameliorate dyslipidemia and hepatic lipid accumulation in hyperlipidemic rats by regulating hepatic bile acid homeostasis， which provides metabolic clues for subsequent mechanism validation.

Objective:To determine the epidemiological characteristics of human bocavirus (HBoV) in children with acute respiratory infections (ARI) in Bengbu City, Anhui Province, in 2024.Methods:Nasopharyngeal swab samples were collected from 269 children with ARI in Bengbu City, Anhui Province, in 2024. Seventeen respiratory pathogens were screened using quantitative fluorescence PCR. For HBoV-positive samples, the VP1/VP2 structural gene fragments of HBoV were amplified and sequenced for genetic evolutionary analysis.Results:Among the 269 nasopharyngeal swab samples from children with ARI, the overall detection rate of respiratory pathogens was 48.33% (103/269). The top three pathogens with the highest detection rates were: Influenza A virus (FluA): 10.04% (27/269), Respiratory syncytial virus (RSV): 8.18% (22/269), Human bocavirus (HBoV): 7.43% (20/269). The age distribution of HBoV-infected children showed that the detection rate was highest in the 0-2 years age group (50%, 10/20), followed by the 3-5 years age group (25%, 5/20) and the over 6 years age group (25%, 5/20). However, there was no statistically significant difference in viral detection rates among the age groups. Genetic evolutionary analysis based on VP1/VP2 revealed that all 13 HBoV strains were of the HBoV-1 genotype.Conclusions:HBoV is one of the major pathogens causing ARI in children in Bengbu City, Anhui Province, in 2024, with HBoV-1 being the predominant genotype. Additionally, infants aged 0-2 years are the most susceptible population to HBoV infection.

Objective:To explore the pathogenesis,clinical features,treatment strategies,and prognosis of pediatric lymphoepithelioma-like carcinoma(LELC).Methods:A retrospective analysis was conducted on the clinical data of patients with LELC aged<18 years,treated at Sun Yat-sen University Cancer Center from March 2008 to June 2023.Results:A total of 19 children and adolescents were included in the analys-is,comprising 10 males(52.6%)and 9 females(47.4%),with a median age of 12.9(4.3-17.0)years.Fourteen patients(73.7%)lived in Guangdong province,with the remainder scattered across other regions.Primary LELC sites were the mediastinum(11 cases,57.9%),parot-id glands(4 cases,21%),neck(1 case,5.3%),lungs(1 case,5.3%),salivary glands(1 case,5.3%),and submandibular glands(1 case,5.3%).Among these,15 patients(78.9%)had at least one distant metastasis at initial diagnosis,with common metastasis sites being cervical lymph nodes.Multivariate Cox regression analysis identified tumor volume≥801 cm3 as an independent adverse prognostic factor of poor overall survival(OS)(P<0.01).The 2-year OS and progression-free survival(PFS)rates were 84.2%and 57.9%,respectively.The 2-year OS for pa-tients who underwent surgery,chemotherapy,and radiotherapy was 100%,compared with 25%for those who received only partial treat-ment(P=0.007).The 2-year PFS rate was significantly higher in patients receiving first-line combination therapy with programmed death-1(PD-1)antibodies(100%)compared with those not treated with PD-1 antibodies(38.5%)(P=0.020).For patients with tumor volume≥801 cm3,the 2-year OS was 40.0%,whereas for those with a tumor volume<801 cm3,the 2-year OS was 100%(P<0.001).The 2-year OS for pa-tients who underwent radiotherapy was 100%,while it was 0 for those who did not receive radiotherapy(P<0.001).Conclusions:Pediatric LELC exhibits a relatively favorable prognosis with multidisciplinary treatment,including surgery,chemotherapy,and radiotherapy.The com-bined use of PD-1 antibodies at the time of initial diagnosis could offer potential benefits and warrants further exploration.

Objective:To identify the influencing factors for acute kidney injury (AKI) in patients undergoing interventional embolization of intracranial aneurysms under general anesthesia and develop a predictive model.Methods:In this retrospective study, the clinical data from patients who underwent elective interventional embolization of intracranial aneurysms at Hospital Affiliated to Nanjing Medical University from January 2019 to December 2023 were collected. All the patients were divided into AKI group and non-AKI group based on whether AKI occurred postoperatively. The general data, preoperative laboratory parameters, and intraoperative parameters of the patients were obtained through the electronic medical record system and operation-anesthesia management system. The variables screened using LASSO regression were included in the multivariate logistic regression analysis to identify the risk factors for AKI following embolization of cerebrovascular aneurysms. Based on the results, a predictive model was established and evaluated.Results:A total of 428 patients were collected, with 73 in AKI group and 355 in non-AKI group. LASSO regression for variable selection and multivariate logistic regression analysis showed that serum creatinine concentration, duration of surgery and age were independent risk factors, and the glomerular filtration rate and hemoglobin concentration were protective factors for AKI after interventional embolization of intracranial aneurysms ( P<0.05). The area under the receiver operating characteristic curve of the prediction model was 0.860 (95% confidence interval 0.815 to 0.905), with a sensitivity of 0.880 and a specificity of 0.718. The calibration curve showed a mean absolute error of 0.014. The Hosmer-Lemeshow goodness-of-fit test indicated that there was no statistically significant difference between the predicted and observed values of the model ( χ2=3.29, P=0.915). The clinical decision curve demonstrated that the net benefit rate for patients was higher when the threshold probability ranged from 0 to 0.83. Conclusions:The glomerular filtration rate, serum creatinine concentration, hemoglobin concentration, duration of surgery and age are influencing factors for AKI following interventional embolization of intracranial aneurysms, and the prediction model established based on these factors demonstrates good predictive performance.

Objective:To explore the efficacy and safety of instantly generated inhaled nitric oxide (iNO) for treating neonatal pulmonary hypertension (PH) complicated with severe hypoxic respiratory failure.Methods:This single-center, single-arm, prospective study included 32 neonates with PH complicated with hypoxic respiratory failure who were hospitalized in the neonatal intensive care unit (NICU) of Beijing Children′s Hospital Affiliated to Capital Medical University from March 2023 to March 2025 and received immediate iNO generation therapy. The demographic data, maternal pregnancy, mechanical ventilation parameters, arterial blood gas indexes, other hospitalization data and safety indexes of iNO treatment were collected. The time point for starting iNO treatment was set as 0 h, and the observation time points were 1, 6, 12, 24, 48 h after treatment and when iNO treatment was stopped. The positive reaction of iNO treatment was defined as the decrease of oxygenation index (OI)>10% or the increase of arterial partial pressure of oxygen (PaO 2)>10% after treatment. The OI, mechanical ventilation parameters, arterial blood gas index changes and treatment positive reaction ratio were analyzed to evaluate the effectiveness of iNO treatment, and the nitrogen dioxide concentration, methemoglobin (MetHb) concentration and other indicators were analyzed to evaluate the safety of iNO treatment. Paired t test or Wilcoxon signed rank sum test was used to compare the observation indexes at different treatment times. Friedman test was used to compare the concentration of nitrogen dioxide and MetHb at multiple treatment times. Receiver operating characteristic (ROC) curve was used to analyze the best cut-off value of OI related indexes to distinguish the treatment outcome of iNO. Results:Among 32 neonates, 18 (56%) were males and 14 (44%) were females, the gestational age was 38 (35, 39) weeks, the birth weight was 3.1 (2.3, 3.4) kg, and the age of enrollment was 3 (2, 8) days. The OI and the mean airway pressure at 48 h after treatment were both lower than those at 0 h ((10.4±2.0 vs. 22.6±2.5, 13.0 (12.0, 14.0) vs. 14.0 (13.0, 16.0) cmH 2O, 1 cmH 2O=0.098 kPa, both P<0.05). The fraction of inspired oxygen at 24 and 48 h after treatment were both lower than those at 0 h (both P<0.05). The PaO 2 at 6, 12, 24 and 48 h after treatment were all higher than those at 0 h (all P<0.05). The proportion of positive reactions to iNO treatment was 20 neonates (63%), 22 neonates (69%), 23 neonates (72%), 23 neonates (72%) and 26 neonates (8%) at 1, 6, 12, 24, 48 h after treatment, respectively. No occurrence of methemoglobinemia, excessive nitrogen dioxide concentration, or device related adverse events were observed. Out of 32 neonates, a total of 24 neonates (75%) were cured or improved and discharged according to medical advice, while 8 neonates (25%) died in the hospital. The best cut-off value of OI at 0 h and the decline range of OI at 12 h to distinguish the outcome of hospitalization were 24.8 and 22.2%, respectively. Conclusion:It was effective and safe to use instantly generated iNO to treat neonatal PH with severe hypoxic respiratory failure.