Objective To determine the pathogenicity of a novel mutation(c.109_111del)in DKC1 gene of an adult patient,and to analyze the clinical phenotype,immunophenotype and telomere length,so as to provide clues for early clinical identification and diagnosis.Methods The clinical data and peripheral blood samples of the patient were collected for genetic testing and family analysis.The lymphocyte subsets of the patient were detected by Flow cytometry,and the telomere length of the patient and healthy controls were detected by Flow-FISH.Results The main clinical manifestations of the patient were mucocutaneous triad,bone marrow failure and infection.The telomere length of lymphocytes in the patient was significantly shorter than that of healthy controls of the same age,and the absolute value and percentage of lymphocyte subsets were abnormal.Conclusion The clinical manifestations of DC patients are diverse.Flow-FISH detection of telomere length is helpful for early diagnosis of DC patients.

ObjectiveTo investigate the improvement effect of Qibai Pingfei capsules on pulmonary vascular remodeling in rats at different stages of chronic obstructive pulmonary disease （COPD） and to analyze its possible mechanism of action. MethodsMale Sprague-Dawley （SD） rats were randomly divided into a normal group， an early COPD model group， an advanced COPD model group， an early-intervention high-dose group， a late-intervention high-dose group， an early-intervention low-dose group， a late-intervention low-dose group， an early-intervention pyrrolidine dithiocarbamate （PDTC） group， and a late-intervention PDTC group， with 15 rats in each group. A rat model of early COPD was constructed by using cigarette smoke combined with airway infusion using lipopolysaccharide（LPS）， and a rat model of advanced COPD was constructed by using airway infusion with LPS， cigarette smoke， and hypoxia. All groups except the normal group were given LPS airway drops on days 1 and 14 of the experiment， smoked for 1 h per day， and administered the drug once a day for 40 weeks from day 15 onward. In the high- and low-dose groups， rats were given 1 g·kg^-1 and 250 mg·kg^-1 Qibai Pingfei capsules， respectively by gavage， and in PDTC groups， rats were given 100 mg·kg^-1 of PDTC by intraperitoneal injection. The advanced COPD model group underwent 6 h of hypoxia per day in weeks 5-6. Lung function and mean pulmonary artery pressure were tested in rats. Morphologic changes in lung tissues were detected by hematoxylin-eosin（HE）staining. Collagen deposition in lung tissues was examined by Masson staining， and the levels of inflammatory factors including interleukin-1β（IL-1β）， interleukin-6（IL-6）， and tumor necrosis factor-α（TNF-α）in lung tissues were detected by enzyme-linked immunosorbent assay （ELISA）. The number of inflammatory cells in the alveolar lavage fluid of rats in each group was detected by Giemsa staining， and the protein expression of Toll-like receptor 4（TLR4）， myeloid differentiation factor 88（MyD88）， nuclear factor-κB（NF-κB）， TNF-α， vascular endothelial-cadherin（VE-cadherin）， α-smooth muscle actin（α-SMA）， and platelet endothelial cell adhesion molecule-1（CD31） was detected by Western blot in the lung tissues of rats. ResultsCompared with the normal group， the model group showed significantly decreased forced expiratory volume in 0.3 s （FEV_0.3）， forced vital capacity （FVC）， and FEV_0.3/FVC ratio related to lung function （P<0.05）， thickening of pulmonary vasculature， increased collagen deposition in the lungs， and enhanced mean pulmonary arterial pressure and expression levels of IL-6， IL-1β， and TNF-α （P<0.05）. Additionally， the model group also exhibited increased numbers of macrophages， lymphocytes， and neutrophils （P<0.05）， significantly higher protein expression of TLR4， MyD88， NF-κB， TNF-α， and α-SMA （P<0.05）， and significantly lower protein expression of VE-cadherin and CD31 （P<0.05）. Lung function was significantly improved in the Qibai Pingfei capsules groups compared with the model group （P<0.05）， with mean pulmonary arterial pressure reduced and pulmonary vascular thickening and collagen deposition in the lungs ameliorated. The Qibai Pingfei capsules groups also showed reduced expression levels of IL-6， IL-1β， and TNF-α （P<0.05） and decreased numbers of macrophages， lymphocytes， and neutrophils （P<0.05）， as well as reduced protein expression of TLR4， MyD88， NF-κB， TNF-α， and α-SMA （P<0.05） and elevated protein expression of VE-cadherin and CD31 （P<0.05） in rat lung tissues. ConclusionQibai Pingfei capsules inhibits inflammatory response and endothelial-to-mesenchymal transition probably by regulating the TLR4/NF-κB signaling pathway， thus improving pulmonary vascular remodeling in COPD model rats and showing therapeutic effects in the early stage of COPD.

Objective·To investigate the predictive value of the geriatric nutritional risk index(GNRI)for the occurrence of lung infection in hospitalized elderly patients with type 2 diabetes mellitus(T2DM).Methods·Elderly T2DM patients who were admitted to the Geriatric Department of Shanghai Tongren Hospital between June 2022 and June 2024 were retrospectively and consecutively enrolled.They were divided into infected and non-infected groups according to whether lung infection occurred during hospitalization.Baseline data(gender,age,height,weight,duration of diabetes,comorbidities,etc.)were collected and GNRI was calculated.A multivariate Logistic regression model was used to screen the independent risk factors for pulmonary infections,and the predictive value of GNRI for pulmonary infections in T2DM patients was analysed using receiver operating characteristic(ROC)curves.Results·A total of 264 elderly T2DM patients were enrolled,among whom 154 developed pulmonary infections.Significant differences were observed between the infected and non-infected groups in GNRI,albumin,leukocyte count,neutrophil ratio,lymphocyte ratio,glycated hemoglobin,fasting glucose,interleukin-6,C-reactive protein,and procalcitonin levels(P<0.05).Multivariate Logistic regression analysis showed that a lower GNRI was an independent risk factor for lung infection(OR=0.798,95%CI 0.712?0.894;P<0.001).Correlation analysis showed that GNRI was negatively correlated with C-reactive protein and calcitoninogen.ROC curve analysis showed that GNRI predicted pulmonary infection with an area under the curve of 0.828,a sensitivity of 77.9%,and a specificity of 76.6%.Conclusion·A lower GNRI is an independent risk factor for pulmonary infections in elderly T2DM patients,and also has a good predictive value for the occurrence of pulmonary infections.

Objective To determine the pathogenicity of a novel mutation(c.109_111del)in DKC1 gene of an adult patient,and to analyze the clinical phenotype,immunophenotype and telomere length,so as to provide clues for early clinical identification and diagnosis.Methods The clinical data and peripheral blood samples of the patient were collected for genetic testing and family analysis.The lymphocyte subsets of the patient were detected by Flow cytometry,and the telomere length of the patient and healthy controls were detected by Flow-FISH.Results The main clinical manifestations of the patient were mucocutaneous triad,bone marrow failure and infection.The telomere length of lymphocytes in the patient was significantly shorter than that of healthy controls of the same age,and the absolute value and percentage of lymphocyte subsets were abnormal.Conclusion The clinical manifestations of DC patients are diverse.Flow-FISH detection of telomere length is helpful for early diagnosis of DC patients.

Objective·To investigate the predictive value of the geriatric nutritional risk index(GNRI)for the occurrence of lung infection in hospitalized elderly patients with type 2 diabetes mellitus(T2DM).Methods·Elderly T2DM patients who were admitted to the Geriatric Department of Shanghai Tongren Hospital between June 2022 and June 2024 were retrospectively and consecutively enrolled.They were divided into infected and non-infected groups according to whether lung infection occurred during hospitalization.Baseline data(gender,age,height,weight,duration of diabetes,comorbidities,etc.)were collected and GNRI was calculated.A multivariate Logistic regression model was used to screen the independent risk factors for pulmonary infections,and the predictive value of GNRI for pulmonary infections in T2DM patients was analysed using receiver operating characteristic(ROC)curves.Results·A total of 264 elderly T2DM patients were enrolled,among whom 154 developed pulmonary infections.Significant differences were observed between the infected and non-infected groups in GNRI,albumin,leukocyte count,neutrophil ratio,lymphocyte ratio,glycated hemoglobin,fasting glucose,interleukin-6,C-reactive protein,and procalcitonin levels(P<0.05).Multivariate Logistic regression analysis showed that a lower GNRI was an independent risk factor for lung infection(OR=0.798,95%CI 0.712?0.894;P<0.001).Correlation analysis showed that GNRI was negatively correlated with C-reactive protein and calcitoninogen.ROC curve analysis showed that GNRI predicted pulmonary infection with an area under the curve of 0.828,a sensitivity of 77.9%,and a specificity of 76.6%.Conclusion·A lower GNRI is an independent risk factor for pulmonary infections in elderly T2DM patients,and also has a good predictive value for the occurrence of pulmonary infections.

Objective:To explore the non-bacterial pathogen distribution, epidemiological characteristics, and clinical features of acute respiratory infections in children in Sichuan Province.Methods:Using a retrospective cohort study method, this study selected hospitalized children diagnosed with acute respiratory infections at West China Second Hospital of Sichuan University from February 2019 to January 2021, and tested 13 pathogens using polymerase chain reaction (PCR)-fragment analysis. The children were divided into infant group (<1 year old), toddler group (1 year old ≤ age <3 years old), preschool group (3 years old ≤ age <6 years old) and school-age group (6 years old ≤ age <18 years old). The distribution of pathogen positive rates, seasonal epidemic characteristics, clinical characteristics, and some laboratory test indicators were analyzed in children. Statistical analysis was performed on the results using SPSS 22.0 software, with count data expressed as percentages and inter group comparisons using SPSS 22.0 software χ2 Inspection. Results:A total of 2 922 pediatric patients were included in this study, with 1 748 (59.8%) positive for pathogens detected. Among them, 1 391 (79.6%) were detected as a single pathogen, and 357 (20.4%) were detected as a mixture of two or more pathogens. The most commonly detected pathogens were rhinovirus (HRV) (39.7%), syncytial virus (RSV) (22.8%), and parainfluenza virus (PIV) (12.5%). Pathogen positivity is more common in children under 6 years old ( χ2=146.59, P<0.001), with a slightly higher positivity rate in male children (61.3%, 1 047/1 707) than in female children (57.7%, 701/1 215) ( χ2=3.91, P=0.048), and compared with pathogen negative children, positive children are more prone to symptoms such as cough, wheezing, and shortness of breath ( χ2=259.15, 366.06, 12.48, P<0.001). The distribution of different pathogens varies among children of different age groups, and HRV is more common in children aged 1-3 and 3-6 years old ( χ2=9.74, P<0.001), while RSV is more common in children under 1 year old ( χ2=178.63, P<0.001), while mycoplasma pneumoniae (MP) and influenza virus (InfA/B) are less common in children under 1 year old ( χ2=92.54, 12.90,22.21, P<0.01). The prevalence of multiple pathogens showed seasonal changes. HRV showed a high prevalence trend in spring and autumn, while the prevalence of RSV infection was mainly seen in autumn and winter festivals. The positive rate of different pathogens after the outbreak of novel coronavirus pneumonia was significantly lower than that before the outbreak ( χ2=252.68, P<0.001). Conclusion:The detection rate of non-bacterial respiratory pathogens in children in Sichuan Province from 2019 to 2021 is high, which is prone to symptoms such as cough, wheezing, and shortness of breath, with HRV and RSV being the main types. The positive rate of respiratory pathogens varies among different age groups, genders, and seasons.

Objective:To explore the non-bacterial pathogen distribution, epidemiological characteristics, and clinical features of acute respiratory infections in children in Sichuan Province.Methods:Using a retrospective cohort study method, this study selected hospitalized children diagnosed with acute respiratory infections at West China Second Hospital of Sichuan University from February 2019 to January 2021, and tested 13 pathogens using polymerase chain reaction (PCR)-fragment analysis. The children were divided into infant group (<1 year old), toddler group (1 year old ≤ age <3 years old), preschool group (3 years old ≤ age <6 years old) and school-age group (6 years old ≤ age <18 years old). The distribution of pathogen positive rates, seasonal epidemic characteristics, clinical characteristics, and some laboratory test indicators were analyzed in children. Statistical analysis was performed on the results using SPSS 22.0 software, with count data expressed as percentages and inter group comparisons using SPSS 22.0 software χ2 Inspection. Results:A total of 2 922 pediatric patients were included in this study, with 1 748 (59.8%) positive for pathogens detected. Among them, 1 391 (79.6%) were detected as a single pathogen, and 357 (20.4%) were detected as a mixture of two or more pathogens. The most commonly detected pathogens were rhinovirus (HRV) (39.7%), syncytial virus (RSV) (22.8%), and parainfluenza virus (PIV) (12.5%). Pathogen positivity is more common in children under 6 years old ( χ2=146.59, P<0.001), with a slightly higher positivity rate in male children (61.3%, 1 047/1 707) than in female children (57.7%, 701/1 215) ( χ2=3.91, P=0.048), and compared with pathogen negative children, positive children are more prone to symptoms such as cough, wheezing, and shortness of breath ( χ2=259.15, 366.06, 12.48, P<0.001). The distribution of different pathogens varies among children of different age groups, and HRV is more common in children aged 1-3 and 3-6 years old ( χ2=9.74, P<0.001), while RSV is more common in children under 1 year old ( χ2=178.63, P<0.001), while mycoplasma pneumoniae (MP) and influenza virus (InfA/B) are less common in children under 1 year old ( χ2=92.54, 12.90,22.21, P<0.01). The prevalence of multiple pathogens showed seasonal changes. HRV showed a high prevalence trend in spring and autumn, while the prevalence of RSV infection was mainly seen in autumn and winter festivals. The positive rate of different pathogens after the outbreak of novel coronavirus pneumonia was significantly lower than that before the outbreak ( χ2=252.68, P<0.001). Conclusion:The detection rate of non-bacterial respiratory pathogens in children in Sichuan Province from 2019 to 2021 is high, which is prone to symptoms such as cough, wheezing, and shortness of breath, with HRV and RSV being the main types. The positive rate of respiratory pathogens varies among different age groups, genders, and seasons.

Objective To systematically evaluate relevant guidelines on calories and 3 nutrients allocations during pregnancy in patients with gestational diabetes mellitus,and to compare the similarities and differences in recommendations between these guidelines.Methods Domestic and foreign guideline networks,websites of specialist associations related to diabetes,obstetrics and gynecology,as well as databases,were systematically searched from January 2010 to June 2022.There were 2 appraisers who used the Appraisal of Guidelines for Research &Evaluation Ⅱ to evaluate the quality of guidelines and then used the content analysis method to synthesize the recommendations of each guideline and compare similarities and differences.Results This study included 18 guidelines with fair overall quality(10 with grade A,2 with grade B and 6 with grade C).The guidelines provided recommendations in 5 aspects of meal allocation,calories,carbohydrates,proteins,and fats,totaling 57 recommendations.While the recommendations for meal allocation were consistent across guidelines,there were significant differences in the recommendations for calories and the 3 major nutrients.Conclusion The recommendations regarding the distribution of calories and the 3 major nutrients mostly rely on expert consensuses,with low-quality evidence but mostly strong recommendations.These guidelines exhibit significant variations from one to another.Consequently,future studies with higher quality on the distribution of calories and 3 nutrients should be conducted,and high-quality evidence-based nutrition guidelines for gestational diabetes should be developed in China.

Objective To investigate clinical effect of 5-aminolevulinic acid photodynamic therapy(ALA-PDT)in the treatment of perianal condyloma acuminatum.Method ALA-PDT was used to treat 56 cases of perianal condyloma acuminatum and the curative effect was observed.Result The effectiveness rate of ALA-PDT was 94.6%.The recurrence rate was 5.4%.Conclusion The following nursing measures including care observation,adequate expansion of skin during treatment and performance of postoperative health education are all important for the enhanced curative effects of ALA-PDT in treating perianal condyloma acuminatum.

Objectives To investigate the relationship between albuminuria and all-cause mortality and cardiovascular mortality in middle-to-old-aged Chinese population. Methods A total of 2500 residents aged more than 40 years old were selected using random cluster sampling in Shougang community, Beijing, and 2315 of them took part in the survey finally. Morning urinary samples were collected. Urinary albumin and creatinine were measured. Albumin to creatinine ratio (ACR) was calculated and used as an index of albuminuria. The subjects were grouped according to ACR: normoalbuminuria (NO, ACR＜ 30 mg/g), microalbuminuria (MI, ACR 30-299 mg/g), and macroalbuminuria (MA, ACR ≥ 300 mg/g). Albuminuria (AL) group consisted of MI group and MA group. Cardiovascular risk factors were also investigated. Then all-cause mortality and cardiovascular mortality were collected after 4 years. The Cox model was used to analyze the relationship between albuminuria and all-cause mortality after adjusting for confounders. Results The prevalence of microalbuminuria and macroalbuminuria was 7.6% and 1.4% respectively. After 4 years follow-up,the cardiovascular mortality was 2.7/1000 person-years in NO group, 19.9/1000 person-years in MI group, and 11.5/1000 person-years in MA group and the all-cause mortality was 6.6/1000,25.9/1000 and 57.5/1000 person-years respectively. After adjusting for age, gender, smoking, body mass index, serum lipids, hypertension, diabetes mellitus, cardiovascular disease at baseline and serum creatinine, the hazard ratio (HR) of cardiovascular mortality in AL group was 5.26 [95% confidence intervals (CI) 2.26-12.24] compared with NO group; the HR of all-cause mortality was 3.34 (95% CI 1.82-6.15). Among patients without cardiovascular disease at baseline, the corresponding HRs were 6.92 (95%CI 1.80-26.58) and 2.85 (95%CI 1.22-6.65) respectively.Conclusion In the population studied, albuminuria is an independent risk factor for all-cause mortality and cardiovascular mortality.