Dyskeratosis congenita is a hereditary short telomere disease caused by mutations in telomerase-related genes.The classic clinical manifestations are oral leukoplakia,nail dystrophy,and skin pigmentation.This article reported a 7-year-old male child diag-nosed with dyskeratosis congenita but with dorsal tongue erosion as the first manifestation.Genetic testing results confirmed DKC1 gene mutations and a literature review was performed.

Background Metals and metalloids in fine particulate matter (PM_2.5) may cause damage to the respiratory and circulatory systems of the human body, and long-term exposure is prone to causing chronic poisoning, cancer, and other adverse effects. Objective To assess the distribution characteristics of metals and metalloids in outdoor PM_2.5 in a southern city of China, conduct source apportionment, and evaluate the associated health risks, thereby providing theoretical support for further pollution control measures. Methods PM_2.5 samples were collected in districts A, B, and C of a southern China city, and the concentrations of 17 metals and metalloids were detected by inductively coupled plasma-mass spectrometry (ICP-MS). Pollution sources were assessed through enrichment factor and principal components analysis, and the main pollution sources were quantified using absolute principal component scores-multivariate linear regression (APCS-MLR). Health risks were evaluated based on the Technical guide for environmental health risk assessment of chemical exposure (WS/T777—2021). Results The ambient air PM_2.5 concentrations in the city were higher in winter and spring, and lower in summer and autumn. The annual average concentrations of ambient PM_2.5 in districts A, B, and C were 36.7, 31.9, and 24.4 μg·m⁻³, respectively. The ambient PM_2.5 levels in districts B and C were below the second-grade limit set by the Ambient air quality standards (GB 3095—2012). The enrichment factors of cadmium (Cd), aluminum (Al), and antimony (Sb) were greater than 10, those of copper (Cu), lead (Pb), arsenic (As), nickel (Ni), mercury (Hg), and molybdenum (Mo) fell between 1 and 10, and those of manganese (Mn), vanadium (V), chromium (Cr), cobalt (Co), barium (Ba), beryllium (Be), and uranium (U) were below or equal to 1. The comprehensive evaluation of source analysis showed that the main pollution sources in districts A and C and the whole city were coal-burning. In district B, the main pollution source was also coal combustion, followed by industrial process sources and dust sources. The carcinogenic risks of As and Cr were between 1×10⁻⁶ and 1×10⁻⁴. However, the hazard quotients for 15 metals and metalloids in terms of non-carcinogenic risk were below 1. Conclusion Cr and As in the atmospheric PM_2.5 of the city present a certain risk of cancer and should be paid attention to. In addition, preventive control measures should be taken against relevant pollution sources such as industrial emission, dust, and coal burning.

Objective:To improve the understanding of patients with diffuse large B-cell lymphoma (DLBCL) with pulmonary cryptococcosis.Methods:The clinical data of 1 DLBCL patient with pulmonary cryptococcosis in the Central Hospital of Fengxian District of Shanghai in May 2023 were retrospectively analyzed, and the relevant literatures were reviewed.Results:This 75-year-old female patient was asymptomatic after 2 cycles of R-CHOP chemotherapy. The high-resolution CT of lung showed that lung nodules were progressively enlarged. Antibacterial treatment was ineffective. Pulmonary cryptococcosis was confirmed by bronchoalveolar lavage fluid (BALF) targeted high-throughput sequencing (tNGS) and cryptococcus capsular antigen (CrAg) detection. The central nervous system was not involved. And the long-term adequate-dose fluconazole was prescribed for 6 months, and the treatment against lymphoma was given synchronously. The lung nodule lesions reduced after antifungal therapy for 1 month. The lung nodules disappeared after the follow-up of 6 months after completion of final chemotherapy. The evaluation of lymphoma indicated complete remission.Conclusions:Pulmonary cryptococcosis occurs insidiously and shows no specific symptoms; its imaging manifestations are variable and routine anti-infection is ineffective. Immunochemotherapy for lymphoma patients is a high-risk factor for cryptococcal infection. tNGS and CrAg testing for BALF are effective methods of the confirmed diagnosis. The early and long-term adequate-dose antifungal treatment is the key to preventing the recurrence or progression.

Objective:To analyze the changes of DNA methylation in peripheral blood mononuclear cells (PBMC) of patients with hepatocellular carcinoma (HCC) and to evaluate the clinical value of a combined model based on FSIP1 gene methylation on the early diagnosis of HCC.Methods:This is a case-control study. From May 2023 to September 2024, 183 HCC patients and 155 healthy controls were collected in Qilu Hospital of Shandong University. The selected study subjects were divided into three cohorts: 14 HCC patients and 39 healthy controls formed the discovery cohort, a screening cohort consisted of 36 HCC patients and 39 healthy controls, 133 HCC patients and 77 healthy controls were included in the model construction cohort. 935k methylation chip analysis was used to identify specific differentially methylated sites in peripheral blood PBMC of the discovery cohort. The absolute value of the average methylation level difference between HCC group and healthy control group (|Δβ|) and P value were calculated. Then targeted bisulfite sequencing was used to verify the differentially methylated sites in the screening cohort. Finally, based on MethylTarget methylation sequencing technology, differential methylation sites were further verified in model construction cohort (divided into training set and validation set, training set consisted of 99 HCC patients and 57 healthy controls; validation set consisted of 34 HCC patients and 20 healthy controls). HCC early diagnosis model was constructed by random forest algorithm combined with clinical parameters and the diagnostic performance of the model was evaluated by receiver operating characteristic (ROC) curve in the validation set. Results:The total of 7 249 differentially methylated sites between HCC patients and healthy controls in discovery cohort were selected under the rule of |Δβ|≥0.06 and P<0.01. Among them, the cg02155073 site located on FSIP1 was hypermethylated in PBMC of HCC patients in the screening cohort and model cohort ( P<0.001). The AUC of HCC early diagnosis model (FmAP) based on FSIPI in the validation set was 0.967 (95% CI 0.924-1.000); sensitivity was 88%, specificity was 95%. The model had good diagnostic efficacy for patients with early HCC, stage Ⅰ-Ⅱ HCC AUC was 0.958 (95% CI 0.898-1.000). The FmAP model also had diagnostic value for tumor size <2 cm HCC and AFP negative HCC, with AUC of 0.955 (95% CI 0.898-1.000) and 0.964 (95% CI 0.934-0.994).The sensitivity were 92% and 93% and specificity both were 84%. Conclusion:The FmAP model based on FSIP1 gene methylation has good clinical value for the early diagnosis of hepatocellular carcinoma.

Objective:To construct a matching model between difficulty grading of peripheral venipuncture in infants and nurse's venipuncture competence, and to evaluate its effectiveness.Methods:Convenience sampling was used to select pediatric patients who were treated with peripheral venous infusion in the infusion room of the Affiliated Xuzhou Children's Hospital of Xuzhou Medical University from March to June 2024, and to establish a model for matching the difficulty grading of peripheral venipuncture in infants and the nurse's venipuncture competence. Pediatric patients before the implementation of the matching model (March to April 2024) were set up as control group, and pediatric patients after the implementation of the matching model (May to June 2024) were set up as observation group. The success rate of first peripheral venipuncture was counted and compared between the two groups.Results:The per capita first puncture success rate of the nurses in control group was (93.94±4.67) %, and the per capita first puncture success rate of the nurses in observation group was (96.10±2.65) %, and the difference was statistically significant ( P<0.05) . Conclusions:The establishment of a matching model between difficulty grading of peripheral venipuncture in infants and nurse's venipuncture competence can improve the success rate of first pediatric peripheral venipuncture and promote a steady improvement in the technical competence of pediatric venipuncture nurses.

Objective:To explore mechanism of Caspase-11/GSDMD non-classical cell pyroptosis pathway in inflammatory response of RAW264.7 monocyte macrophages induced by ricin toxin.Methods:Cell pyroptosis model induced by LPS+Nigericin was used as a positive control,and cells were induced with 40 ng/ml and 80 ng/ml of ricin toxin for 8 hours.Cell release of lactate dehydro-genase(LDH)was measured by LDH cell release assay;cell viability was assessed by flow cytometry(Annexin Ⅴ/PI double staining);gene expressions of Caspase-11,GSDMD,IL-1β and IL-18 were measured by RT-qPCR;protein levels of Caspase-11 and GSDMD were measured by Western blot;secretion levels of inflammatory cytokines IL-1β and IL-18 in cell supernatant were measured by ELISA.Results:Compared with normal control group,RAW264.7 cells treated with ricin toxin showed swelling,cell membrane rupture,significantly increased LDH release(P<0.001),significantly increased pyroptosis rate(P<0.001),significantly increased expression of pyroptosis-related genes Caspase-11,GSDMD,IL-1β and IL-18(P<0.05),significantly increased protein expressions of Caspase-11 and GSDMD(P<0.05),and significantly increased secretion levels of IL-1β and IL-18 in cell supernatant(P<0.05).Results of ricin toxin treatment group were consistent with LPS+Nigericin cell pyroptosis positive control group.Conclu-sion:Ricin toxin may induce cell pyroptosis in RAW264.7 cells through Caspase-11/GSDMD non-classical pathway,thereby promoting inflammatory response.

Dyskeratosis congenita is a hereditary short telomere disease caused by mutations in telomerase-related genes.The classic clinical manifestations are oral leukoplakia,nail dystrophy,and skin pigmentation.This article reported a 7-year-old male child diag-nosed with dyskeratosis congenita but with dorsal tongue erosion as the first manifestation.Genetic testing results confirmed DKC1 gene mutations and a literature review was performed.

Objective:To explore mechanism of Caspase-11/GSDMD non-classical cell pyroptosis pathway in inflammatory response of RAW264.7 monocyte macrophages induced by ricin toxin.Methods:Cell pyroptosis model induced by LPS+Nigericin was used as a positive control,and cells were induced with 40 ng/ml and 80 ng/ml of ricin toxin for 8 hours.Cell release of lactate dehydro-genase(LDH)was measured by LDH cell release assay;cell viability was assessed by flow cytometry(Annexin Ⅴ/PI double staining);gene expressions of Caspase-11,GSDMD,IL-1β and IL-18 were measured by RT-qPCR;protein levels of Caspase-11 and GSDMD were measured by Western blot;secretion levels of inflammatory cytokines IL-1β and IL-18 in cell supernatant were measured by ELISA.Results:Compared with normal control group,RAW264.7 cells treated with ricin toxin showed swelling,cell membrane rupture,significantly increased LDH release(P<0.001),significantly increased pyroptosis rate(P<0.001),significantly increased expression of pyroptosis-related genes Caspase-11,GSDMD,IL-1β and IL-18(P<0.05),significantly increased protein expressions of Caspase-11 and GSDMD(P<0.05),and significantly increased secretion levels of IL-1β and IL-18 in cell supernatant(P<0.05).Results of ricin toxin treatment group were consistent with LPS+Nigericin cell pyroptosis positive control group.Conclu-sion:Ricin toxin may induce cell pyroptosis in RAW264.7 cells through Caspase-11/GSDMD non-classical pathway,thereby promoting inflammatory response.

Objective:To construct a matching model between difficulty grading of peripheral venipuncture in infants and nurse's venipuncture competence, and to evaluate its effectiveness.Methods:Convenience sampling was used to select pediatric patients who were treated with peripheral venous infusion in the infusion room of the Affiliated Xuzhou Children's Hospital of Xuzhou Medical University from March to June 2024, and to establish a model for matching the difficulty grading of peripheral venipuncture in infants and the nurse's venipuncture competence. Pediatric patients before the implementation of the matching model (March to April 2024) were set up as control group, and pediatric patients after the implementation of the matching model (May to June 2024) were set up as observation group. The success rate of first peripheral venipuncture was counted and compared between the two groups.Results:The per capita first puncture success rate of the nurses in control group was (93.94±4.67) %, and the per capita first puncture success rate of the nurses in observation group was (96.10±2.65) %, and the difference was statistically significant ( P<0.05) . Conclusions:The establishment of a matching model between difficulty grading of peripheral venipuncture in infants and nurse's venipuncture competence can improve the success rate of first pediatric peripheral venipuncture and promote a steady improvement in the technical competence of pediatric venipuncture nurses.

Objective:To analyze the changes of DNA methylation in peripheral blood mononuclear cells (PBMC) of patients with hepatocellular carcinoma (HCC) and to evaluate the clinical value of a combined model based on FSIP1 gene methylation on the early diagnosis of HCC.Methods:This is a case-control study. From May 2023 to September 2024, 183 HCC patients and 155 healthy controls were collected in Qilu Hospital of Shandong University. The selected study subjects were divided into three cohorts: 14 HCC patients and 39 healthy controls formed the discovery cohort, a screening cohort consisted of 36 HCC patients and 39 healthy controls, 133 HCC patients and 77 healthy controls were included in the model construction cohort. 935k methylation chip analysis was used to identify specific differentially methylated sites in peripheral blood PBMC of the discovery cohort. The absolute value of the average methylation level difference between HCC group and healthy control group (|Δβ|) and P value were calculated. Then targeted bisulfite sequencing was used to verify the differentially methylated sites in the screening cohort. Finally, based on MethylTarget methylation sequencing technology, differential methylation sites were further verified in model construction cohort (divided into training set and validation set, training set consisted of 99 HCC patients and 57 healthy controls; validation set consisted of 34 HCC patients and 20 healthy controls). HCC early diagnosis model was constructed by random forest algorithm combined with clinical parameters and the diagnostic performance of the model was evaluated by receiver operating characteristic (ROC) curve in the validation set. Results:The total of 7 249 differentially methylated sites between HCC patients and healthy controls in discovery cohort were selected under the rule of |Δβ|≥0.06 and P<0.01. Among them, the cg02155073 site located on FSIP1 was hypermethylated in PBMC of HCC patients in the screening cohort and model cohort ( P<0.001). The AUC of HCC early diagnosis model (FmAP) based on FSIPI in the validation set was 0.967 (95% CI 0.924-1.000); sensitivity was 88%, specificity was 95%. The model had good diagnostic efficacy for patients with early HCC, stage Ⅰ-Ⅱ HCC AUC was 0.958 (95% CI 0.898-1.000). The FmAP model also had diagnostic value for tumor size <2 cm HCC and AFP negative HCC, with AUC of 0.955 (95% CI 0.898-1.000) and 0.964 (95% CI 0.934-0.994).The sensitivity were 92% and 93% and specificity both were 84%. Conclusion:The FmAP model based on FSIP1 gene methylation has good clinical value for the early diagnosis of hepatocellular carcinoma.