OBJECTIVES: Keratoconus (KC) is a progressive corneal ectasia disorder, arising from a myriad of causes including genetic predispositions, environmental factors, biomechanical influences, and inflammatory reactions. This study aims to identify potential pathogenetic gene mutations in patients with sporadic KC in the Han Chinese population. METHODS: Twenty-five patients with primary KC as well as 50 unrelated population-matched healthy controls, were included in this study to identify potential pathogenic gene mutations among sporadic KC patients in the Han Chinese population. Sanger sequencing and whole-exome sequencing (WES) were used to analyze mutations in the zinc finger protein 469 (ZNF469) gene. Bioinformatics analysis was conducted to explore the potential role of ZNF469 in KC pathogenesis. RESULTS: Five novel heterozygous missense variants were identified in KC patients. Among them, 2 compound heterozygous variants, c.8986G>C (p. E2996Q) with c.11765A>C (p. D3922A), and c.4423C>G (p. L1475V) with c.10633G>A (p. G3545R), were determined to be possible pathogenic factors for KC. CONCLUSIONS Mutations in the ZNF469 gene may contribute to the development of KC in the Han Chinese population. These mutation sites may provide valuable information for future genetic screening of KC patients and their families.
Adolescent ; Adult ; Female ; Humans ; Male ; Case-Control Studies ; China/ethnology* ; Exome Sequencing ; Genetic Predisposition to Disease ; Keratoconus/genetics* ; Mutation ; Mutation, Missense ; Transcription Factors/genetics* ; East Asian People/genetics*

Objective:To investigate the risk factors for patients with hypertriglyceridemia-related acute pancreatitis (HTG-AP) developing into severe acute pancreatitis or experiencing organ failure.Methods:This retrospective cohort study collected clinical data from 2 429 patients diagnosed with acute pancreatitis from five hospitals in China between January 2019 and December 2023 using a pre-designed data collection form. The cohort included 1 516 males and 913 females,with an age of (50.2±16.5)years(range: 11 to 99 years). Among them,353 patients (16.1%) had HTG-AP,while 1 846 (83.9%) had non-HTG-AP. HTG-AP was defined as serum triglyceride levels>500 mg/dl with other etiologies excluded. Intergroup comparisons were performed using t-tests,Mann-Whitney U test or χ2 tests,respectively. Univariate and multivariate logistic regression analyses were conducted to assess risk factors for severe acute pancreatitis after adjusting for potential confounders,and a predictive model was developed and validated. Results:Compared with other etiologies,HTG-AP patients had a higher risk of progressing to SAP ( OR=1.415,95% CI: 0.866 to 2.312, P=0.017) and organ failure ( OR=1.256,95% CI: 1.015 to 1.554, P=0.036). Among HTG-AP patients,risk factors for SAP included body mass index ( OR=1.856,95% CI: 1.742 to 1.987, P=0.033),fasting blood glucose ( OR=1.128,95% CI: 1.036 to 1.229, P=0.006),white blood cell count( OR=1.162,95% CI: 1.055 to 1.281, P=0.002),and the presence of pleural effusion ( OR=13.151,95% CI: 4.330 to 19.946, P<0.01). A nomogram prediction model for SAP in HTG-AP was constructed based on these risk factors,demonstrating good discriminative ability with area under the curve values of 0.877 in the training set and 0.894 in the validation set,along with satisfactory calibration. Conclusions:HTG-AP patients are at higher risk of developing SAP and organ failure. The risk prediction model incorporating body mass index,fasting blood glucose,white blood cell count,and pleural effusion shows good predictive value for SAP.

Objective:To investigate the risk factors for patients with hypertriglyceridemia-related acute pancreatitis (HTG-AP) developing into severe acute pancreatitis or experiencing organ failure.Methods:This retrospective cohort study collected clinical data from 2 429 patients diagnosed with acute pancreatitis from five hospitals in China between January 2019 and December 2023 using a pre-designed data collection form. The cohort included 1 516 males and 913 females,with an age of (50.2±16.5)years(range: 11 to 99 years). Among them,353 patients (16.1%) had HTG-AP,while 1 846 (83.9%) had non-HTG-AP. HTG-AP was defined as serum triglyceride levels>500 mg/dl with other etiologies excluded. Intergroup comparisons were performed using t-tests,Mann-Whitney U test or χ2 tests,respectively. Univariate and multivariate logistic regression analyses were conducted to assess risk factors for severe acute pancreatitis after adjusting for potential confounders,and a predictive model was developed and validated. Results:Compared with other etiologies,HTG-AP patients had a higher risk of progressing to SAP ( OR=1.415,95% CI: 0.866 to 2.312, P=0.017) and organ failure ( OR=1.256,95% CI: 1.015 to 1.554, P=0.036). Among HTG-AP patients,risk factors for SAP included body mass index ( OR=1.856,95% CI: 1.742 to 1.987, P=0.033),fasting blood glucose ( OR=1.128,95% CI: 1.036 to 1.229, P=0.006),white blood cell count( OR=1.162,95% CI: 1.055 to 1.281, P=0.002),and the presence of pleural effusion ( OR=13.151,95% CI: 4.330 to 19.946, P<0.01). A nomogram prediction model for SAP in HTG-AP was constructed based on these risk factors,demonstrating good discriminative ability with area under the curve values of 0.877 in the training set and 0.894 in the validation set,along with satisfactory calibration. Conclusions:HTG-AP patients are at higher risk of developing SAP and organ failure. The risk prediction model incorporating body mass index,fasting blood glucose,white blood cell count,and pleural effusion shows good predictive value for SAP.

OBJECTIVES: Several countries have successfully eliminated measles, and China is making significant strides toward achieving this goal. This study focused on investigating the patterns of measles infections in Zhejiang Province, China, as well as control measures. The objective was to provide valuable insights that could contribute to the development of nationwide elimination strategies. METHODS: We analyzed measles surveillance data from 2005 to 2022 in Zhejiang Province. We utilized a joinpoint regression model to examine trends in measles. Additionally, we employed SaTScan version 9.5 to identify spatial-temporal clusters. Finally, we used an age-period-cohort model to assess the effects of age, period, and cohort. RESULTS: The age-standardized incidence rate (ASIR) of measles infection in Zhejiang Province from 2005 to 2022 was 5.24 per 100,000, showing a consistent and significant downward trend with an annual percentage change of -24.93% (p<0.05). After 2020, the ASIR for measles infection fell to below 0.1 per 100,000. The majority of measles cases occurred in individuals either without an immunization history or with an unknown immunization status, representing 41.06% and 41.40% of the cases from 2010 to 2022, respectively. According to data from the National Measles Surveillance System, the annual rate of discarded measles cases from 2009 to 2014, and the annual rate of discarded measles and rubella cases from 2015 to 2022, were both above 2 per 100,000, indicating the high sensitivity of the measles surveillance system. CONCLUSIONS The significant reduction in measles incidence from 2005 to 2022 demonstrates substantial progress in Zhejiang Province towards the elimination of measles.

OBJECTIVES: Several countries have successfully eliminated measles, and China is making significant strides toward achieving this goal. This study focused on investigating the patterns of measles infections in Zhejiang Province, China, as well as control measures. The objective was to provide valuable insights that could contribute to the development of nationwide elimination strategies. METHODS: We analyzed measles surveillance data from 2005 to 2022 in Zhejiang Province. We utilized a joinpoint regression model to examine trends in measles. Additionally, we employed SaTScan version 9.5 to identify spatial-temporal clusters. Finally, we used an age-period-cohort model to assess the effects of age, period, and cohort. RESULTS: The age-standardized incidence rate (ASIR) of measles infection in Zhejiang Province from 2005 to 2022 was 5.24 per 100,000, showing a consistent and significant downward trend with an annual percentage change of -24.93% (p<0.05). After 2020, the ASIR for measles infection fell to below 0.1 per 100,000. The majority of measles cases occurred in individuals either without an immunization history or with an unknown immunization status, representing 41.06% and 41.40% of the cases from 2010 to 2022, respectively. According to data from the National Measles Surveillance System, the annual rate of discarded measles cases from 2009 to 2014, and the annual rate of discarded measles and rubella cases from 2015 to 2022, were both above 2 per 100,000, indicating the high sensitivity of the measles surveillance system. CONCLUSIONS The significant reduction in measles incidence from 2005 to 2022 demonstrates substantial progress in Zhejiang Province towards the elimination of measles.

OBJECTIVES: Several countries have successfully eliminated measles, and China is making significant strides toward achieving this goal. This study focused on investigating the patterns of measles infections in Zhejiang Province, China, as well as control measures. The objective was to provide valuable insights that could contribute to the development of nationwide elimination strategies. METHODS: We analyzed measles surveillance data from 2005 to 2022 in Zhejiang Province. We utilized a joinpoint regression model to examine trends in measles. Additionally, we employed SaTScan version 9.5 to identify spatial-temporal clusters. Finally, we used an age-period-cohort model to assess the effects of age, period, and cohort. RESULTS: The age-standardized incidence rate (ASIR) of measles infection in Zhejiang Province from 2005 to 2022 was 5.24 per 100,000, showing a consistent and significant downward trend with an annual percentage change of -24.93% (p<0.05). After 2020, the ASIR for measles infection fell to below 0.1 per 100,000. The majority of measles cases occurred in individuals either without an immunization history or with an unknown immunization status, representing 41.06% and 41.40% of the cases from 2010 to 2022, respectively. According to data from the National Measles Surveillance System, the annual rate of discarded measles cases from 2009 to 2014, and the annual rate of discarded measles and rubella cases from 2015 to 2022, were both above 2 per 100,000, indicating the high sensitivity of the measles surveillance system. CONCLUSIONS The significant reduction in measles incidence from 2005 to 2022 demonstrates substantial progress in Zhejiang Province towards the elimination of measles.

OBJECTIVES: Several countries have successfully eliminated measles, and China is making significant strides toward achieving this goal. This study focused on investigating the patterns of measles infections in Zhejiang Province, China, as well as control measures. The objective was to provide valuable insights that could contribute to the development of nationwide elimination strategies. METHODS: We analyzed measles surveillance data from 2005 to 2022 in Zhejiang Province. We utilized a joinpoint regression model to examine trends in measles. Additionally, we employed SaTScan version 9.5 to identify spatial-temporal clusters. Finally, we used an age-period-cohort model to assess the effects of age, period, and cohort. RESULTS: The age-standardized incidence rate (ASIR) of measles infection in Zhejiang Province from 2005 to 2022 was 5.24 per 100,000, showing a consistent and significant downward trend with an annual percentage change of -24.93% (p<0.05). After 2020, the ASIR for measles infection fell to below 0.1 per 100,000. The majority of measles cases occurred in individuals either without an immunization history or with an unknown immunization status, representing 41.06% and 41.40% of the cases from 2010 to 2022, respectively. According to data from the National Measles Surveillance System, the annual rate of discarded measles cases from 2009 to 2014, and the annual rate of discarded measles and rubella cases from 2015 to 2022, were both above 2 per 100,000, indicating the high sensitivity of the measles surveillance system. CONCLUSIONS The significant reduction in measles incidence from 2005 to 2022 demonstrates substantial progress in Zhejiang Province towards the elimination of measles.

Diabetes is a common chronic non-infectious disease. Diabetic patients not only suffer from metabolic disorders, but are also prone to immune deficiencies and are at a higher risk of being infected with human papillomavirus (HPV). Many studies at home and abroad have shown that the HPV infection rate of patients with diabetes is higher than that of non-diabetic patients. Patients with diabetes can benefit from HPV vaccination, and the tolerance is good. HPV vaccination is recommended for diabetic patients. This article reviews the research on diabetes, HPV infection, and HPV vaccine, which will provide references for HPV vaccination in diabetic patients.

Objective The risk evaluation indicators for the occurrence of diaphragm dysfunction in ICU patients was constructed to provide a reference for the establishment of the disease risk evaluation tools for diaphragm dysfunction.Methods The literature related to diaphragm dysfunction from CNKI,Wanfang Data,PubMed,Embase and Web of Science from the establishment of databases to November 11 th,2022 was systematically searched.After the first draft was determined through the literature review method,the first draft of the indicators was revised by brainstorming,with the opinions of 10 medical and nursing experts from May to June 2023.From June to July 2023,the content and weight of risk evaluation indicators of diaphragmatic dysfunction in ICU patients were determined through expert letter inquiry and hierarchical analysis.Results 35 experts completed the first round of letter inquiry,and 34 experts completed the second round of letter inquiry.The recovery rates of the valid questionnaires in the 2 rounds of expert correspondence were 92.1％and 97.1％,respectively,and the expert authority coefficients were 0.884 and 0.904,respectively,and the Kendall harmony coefficients of all indicators were 0.356～0.570 and 0.369～0.604,respectively(all P＜0.001).The final constructed risk evaluation indicators of diaphragm dysfunction in ICU patients includes 7 first-level indicators,34 secondary indicators and 34 tertiary indicators.Conclusion The risk evaluation index of diaphragm dysfunction in ICU patients constructed in this study is comprehensive,specific,scientific and applicable,which can guide medical staff to conduct early risk evaluation of diaphragm function in ICU patients,and provide references for the establishment of disease risk assessment tools for diaphragm function.

Objective:To summarize the clinical features associated with respiratory syncytial virus (RSV) infection in patients following the hematopoietic stem cell transplant (HSCT) and exploring the risk factors for death.Methods:Patients who had RSV infection after undergoing HSCT from October 2023 to January 2024 in the hematology department of Peking University People’s Hospital were enrolled in the study. The clinical characteristics of the participating patients were summarized. The clinical characteristics of the surviving and the dying patients were compared, and the risk factors of death were analyzed by binary logistic regression.Results:Among the 43 RSV-positive HSCT patients, 20 (46.5%) were hypoxemic, six (14.0%) were admitted to the ICU for further treatment, four (9.3%) required tracheal intubation assisted ventilation, and seven patients (16.3%) died. A comparison of the clinical features of the surviving patients and the deceased patients demonstrated that the deceased patients had a lower PLT when infected with RSV [74.5 (8.0-348.0) ×10 9/L vs 15.0 (10.0-62.0) ×10 9/L, P=0.003], a higher incidence of simultaneous bacterial infections (85.7% vs 41.7%, P=0.046), and a higher rate of hematological recurrence (71.4% vs 13.9%, P=0.004). Hematological recurrence ( OR=15.500, 95% CI 2.336-102.848, P=0.005), influenza A viral infection ( OR=14.000, 95% CI 1.064-184.182, P=0.045), and low PLT at the time of RSV infection ( OR=0.945, 95% CI 0.894-0.999, P=0.048) were the factors associated with death following HSCT. Conclusion:Patients infected with RSV after undergoing HSCT have a poor prognosis, and active prevention and treatment of RSV in the autumn and winter requires urgent attention.