OBJECTIVE: To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a basis for optimizing strategies for early screening, diagnosis, and intervention. METHODS: A retrospective study was conducted to analyze data from two phases. The prenatal diagnosis group included 33,302 pregnant women who underwent amniocytic karyotyping due to advanced maternal age, abnormal ultrasound findings, or high-risk non-invasive prenatal testing (NIPT). The postnatal diagnosis group included 52,101 patients who underwent peripheral blood karyotyping due to primary infertility, abnormal external genitalia, or growth and developmental abnormalities. Additionally, medical histories of adult diagnosed patients were reviewed retrospectively to identify early occult symptoms. This study was approved by the Medical Ethics Committee of Chengdu Women's and Children's Central Hospital (Ethics No.: LCYJ-2025-030). RESULTS: In the prenatal group, 96 cases of KS were detected (detection rate 0.29%). The primary indications for referral were NIPT indicating sex chromosome abnormalities (45.83%), advanced maternal age (16.66%), and ultrasound abnormalities (17.70%). In the postnatal group, 128 cases of KS were detected (detection rate 0.25%). Clinical presentations were primarily primary infertility/azoospermia (77.34%), and the patients were predominantly adults (84.40%). Retrospective analysis revealed that adult patients presented with specific physical signs that had been overlooked during childhood. CONCLUSION As KS lacks typical early clinical manifestations, diagnosis is often delayed until adulthood when reproductive needs arise, showing a pattern of "passive detection" and resulting in missed opportunities for optimal intervention. By conducting a comparative analysis of prenatal diagnostic data and postnatal retrospective data, a risk association model linking prenatal screening indications with childhood-specific signs was developed. This study has provided empirical evidence for establishing a multidisciplinary, full life-cycle management system of "screening ~ diagnosis ~ monitoring ~ intervention" helping to shift from "passive detection in adulthood" to "proactive management across the entire life course," and laid a foundation for improving early diagnosis rate and long-term quality of life for patients.
Humans ; Klinefelter Syndrome/genetics* ; Female ; Adult ; Pregnancy ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Male ; Phenotype ; Karyotyping ; Young Adult ; Adolescent ; Middle Aged

Objective To investigate the incidence trends and influencing factors of non-alcoholic fatty liver disease (NAFLD) -related cirrhosis in China, predict future disease burden, and provide evidence for public health prevention strategies. Methods Based on the Global Burden of Disease (GBD) 2021 database, we employed joinpoint regression analysis to analyze NAFLD-related cirrhosis trends in China from 1990 to 2021, quantified influencing factors using age-period-cohort modeling, and predicted future incidence through Bayesian age-period-cohort analysis. Results The age-standardized incidence rates (ASIRs) of NAFLD-related cirrhosis showed a persistent increase from 1990 to 2021, with annual percentage changes (APCs) of 0.70% for male and 0.79% for female(both P<0.05). Age-effects revealed a U-shaped variation pattern, peaking in the 60-69 age group. Period effects indicated an incidence peak during 2017-2021. Cohort effects showed the most prominent risk in the 1992-1996 birth cohort. Projections suggested ASIR would further increase to 578.40 and 930.61 per 100 000 population for males and females, respectively, by 2030. Conclusions The disease burden of NAFLD-related cirrhosis continues to worsen in China, with future incidence rates projected to keep rising. Priority attention should be given to middle-aged and elderly populations and sex differences, with targeted prevention and control measures needing to be developed.

The International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use （ICH） issued the ICH E6（R3）： Guideline for Good Clinical Practice on January 14， 2025， which will enhance the speed and quality of global clinical trials， including those in China. As the ethical， scientific and quality standards for global drug clinical trials， the highlights of the revision in the ICH E6 （R3） include encouraging innovation to improve efficiency and quality， motivating research participants to participate in the design and implementation of clinical trials throughout the process， emphasizing quality originating from design and based on the quality management of risks， as well as underlining proportionality and standalone chapter to data governance. ICH E6 （R3） adopts an appendix and appendix structure， enabling future revisions to be more convenient and efficient. ICH E6 （R3） restructures the principles section， adding two new principles and reducing the total from 13 to 11， while incorporating extensive explanatory notes. Major revisions also encompass multiple aspects， including regular review by ethics committees to ensure the safety， rights and interests， and well-being of research participants； diversification of informed consent methods， refinement of its processes， and clarification of detailed rules for minors’ consent； qualifications， authorization， and oversight of investigators and their service providers； risk-proportionate design and implementation by sponsors； joint data governance by investigators and sponsors； and the addition and revision of terms， along with updates to three appendices. The design， implementation， and review of drug clinical trials in China are increasingly aligning with international standards. ICH E6 （R3） will accelerate the revision of China’s Guideline for Good Clinical Practice， promote the speed and quality of drug research and development， and further facilitate the internationalization of China’s new drug research and development.

Objective To evaluate the efficacy of stellate ganglion block(SGB)on postoperative sleep quality in the patients undergoing general anesthesia operation.Methods The randomized controlled trials(RCT)of the effect of SGB on postoperative sleep quality in the patients undergoing general anesthesia were searched from PubMed,Cochrane Library,Embase,CNKI,CBM,VIP and Wang Fang Data.The retrieval limi-tation was from the database establishment to July 21,2023.The screened literatures were evaluated by using the Cochrane 5.1.0 bias risk assessment tool,and then the meta analysis was performed by using Rev Man 5.4 software.Results A total of eight literatures were screened and included.The results of meta analysis showed that the incidence rate of sleep disorders in the first night after surgery in the SGB group was lower than that in the control group(OR=0.26,95％CI:0.15-0.45,P＜0.001),and the postoperative total sleep duration in the SGB group was higher than that in the control group(MD=69.06,95％CI:53.69-84.44,P＜0.001),the sleep efficiency of the SGB group was higher than that of the control group(MD=13.59,95％CI:10.70-16.49,P＜0.001);the postoperative Assens Insomnia Scale(AIS)scores(MD=-1.73,95％CI:-2.43 to-1.03,P＜0.001)and Pittsburgh Sleep Quality Index Scale(PSQI)scores(MD=-3.26,95％CI:-5.40 to-1.12,P＜0.003)in the SGB group were lower than those in the control group.Conclusion SGB could reduce the incidence rate of sleep disturbances at the postoperative first night,extend the postoperative total sleep time,increase the postoperative sleep efficiency,reduce the postoperative sleep quality score,and improve the postoperative sleep quality,which is a non-pharmacological method with good effect and high safety,has good clinical application prospect and is worth promoting.

Alcohol use disorder(AUD)is a common mental disorder and physiological disease impac-ting millions globally.Although multiple studies have explored the causes and treatments of AUD,its exact mechanisms remain poorly understood.The development of lipidomics technology provides a new perspective for studying AUD and can be used to investigate its biological mechanisms.This review summarizes recent ap-plications and progress of lipidomics in AUD research,as well as its potential value in prevention and treat-ment strategies.

Objective To establish an optimized diagnostic model for hepatocellular carcinoma(HCC),designated as G-GADA,in chronic hepatitis B(CHB)patients based on the parameters of age,sex,alpha-fetoprotein(AFP),des-γ-carboxy prothrombin(DCP),and Golgi protein 73(GP73),to address the problems of low sensitivity and specificity in the early diagnosis of hepatitis B virus(HBV)-related liver cancer,and to assess the value of this model in the diagnosis of HCC.Methods A retrospective analysis was performed for 201 CHB patients(CHB group),137 patients with HBV-related liver cirrhosis(LC group),and 111 treatment-na?ve patients with newly diagnosed HCC(HCC group)who were admitted to Mengchao Hepatobiliary Hospital of Fujian Medical University from June 2015 to June 2020.Serological markers(AFP,DCP,alpha-fetoprotein L3%[AFP-L3%],and GP73)were compared between groups and were analyzed in terms of their differences from the clinical and tumor characteristics of HCC patients,and the Spearman correlation analysis was used to assess the correlation between different markers.A Logistic regression analysis was used to establish a diagnostic model for liver cancer,and the receiver operating characteristic(ROC)curve was used to assess the diagnostic performance of each marker.Results Comparison of clinical features between CHB,LC,and HCC patients showed that HCC patients had significantly higher age,proportion of male patients,and serum levels of DCP,AFP,GP73,and AFP-L3%(all P<0.05).In HCC patients,DCP levels are associated with tumor size and microvascular invasion;AFP levels are related to patient age,tumor size,tumor number,distant metastasis,and microvascular invasion;AFP-L3%levels are associated with patient age,tumor size,tumor number,distant metastasis,Milan staging,and microvascular invasion;GP73 levels are linked to tumor number,distant metastasis,and microvascular invasion(all P<0.05).The correlation analysis of the serum markers showed a strong positive correlation between AFP and AFP-L3%(r=0.71,P<0.05)and a moderate positive correlation between AFP and GP73(r=0.33,P<0.05)and between AFP-L3%and GP73(r=0.41,P<0.05).Based on the features of age,sex,DCP,AFP,and GP73,the multivariate Logistic regression analysis was used to establish a G-GADA diagnostic model for HCC,and for all patients,the G-GADA model had an area under the ROC curve(AUC)of 0.915(95%confidence interval[CI]:0.875-0.945)in the derivation cohort and 0.913(95%CI:0.862-0.950)in the validation cohort for the diagnosis of HCC.In the AFP-negative patients,the G-GADA model achieved an AUC of 0.884(95%CI:0.833-0.924)in the derivation cohort and 0.851(95%CI:0.779-0.907)in the validation cohort,and in the patients with liver cirrhosis,the G-GADA model achieved an AUC of 0.901(95%CI:0.841-0.944)in the derivation cohort and 0.885(95%CI:0.806-0.940)in the validation cohort.Conclusion The G-GADA diagnostic model based on multiple variables significantly improves the detection rate of HCC,and demonstrates superior diagnostic performance in patients with low AFP expression and those with liver cirrhosis.The G-GADA model has a better clinical application value in the noninvasive diagnosis of HCC.

Objective To establish an optimized diagnostic model for hepatocellular carcinoma(HCC),designated as G-GADA,in chronic hepatitis B(CHB)patients based on the parameters of age,sex,alpha-fetoprotein(AFP),des-γ-carboxy prothrombin(DCP),and Golgi protein 73(GP73),to address the problems of low sensitivity and specificity in the early diagnosis of hepatitis B virus(HBV)-related liver cancer,and to assess the value of this model in the diagnosis of HCC.Methods A retrospective analysis was performed for 201 CHB patients(CHB group),137 patients with HBV-related liver cirrhosis(LC group),and 111 treatment-na?ve patients with newly diagnosed HCC(HCC group)who were admitted to Mengchao Hepatobiliary Hospital of Fujian Medical University from June 2015 to June 2020.Serological markers(AFP,DCP,alpha-fetoprotein L3%[AFP-L3%],and GP73)were compared between groups and were analyzed in terms of their differences from the clinical and tumor characteristics of HCC patients,and the Spearman correlation analysis was used to assess the correlation between different markers.A Logistic regression analysis was used to establish a diagnostic model for liver cancer,and the receiver operating characteristic(ROC)curve was used to assess the diagnostic performance of each marker.Results Comparison of clinical features between CHB,LC,and HCC patients showed that HCC patients had significantly higher age,proportion of male patients,and serum levels of DCP,AFP,GP73,and AFP-L3%(all P<0.05).In HCC patients,DCP levels are associated with tumor size and microvascular invasion;AFP levels are related to patient age,tumor size,tumor number,distant metastasis,and microvascular invasion;AFP-L3%levels are associated with patient age,tumor size,tumor number,distant metastasis,Milan staging,and microvascular invasion;GP73 levels are linked to tumor number,distant metastasis,and microvascular invasion(all P<0.05).The correlation analysis of the serum markers showed a strong positive correlation between AFP and AFP-L3%(r=0.71,P<0.05)and a moderate positive correlation between AFP and GP73(r=0.33,P<0.05)and between AFP-L3%and GP73(r=0.41,P<0.05).Based on the features of age,sex,DCP,AFP,and GP73,the multivariate Logistic regression analysis was used to establish a G-GADA diagnostic model for HCC,and for all patients,the G-GADA model had an area under the ROC curve(AUC)of 0.915(95%confidence interval[CI]:0.875-0.945)in the derivation cohort and 0.913(95%CI:0.862-0.950)in the validation cohort for the diagnosis of HCC.In the AFP-negative patients,the G-GADA model achieved an AUC of 0.884(95%CI:0.833-0.924)in the derivation cohort and 0.851(95%CI:0.779-0.907)in the validation cohort,and in the patients with liver cirrhosis,the G-GADA model achieved an AUC of 0.901(95%CI:0.841-0.944)in the derivation cohort and 0.885(95%CI:0.806-0.940)in the validation cohort.Conclusion The G-GADA diagnostic model based on multiple variables significantly improves the detection rate of HCC,and demonstrates superior diagnostic performance in patients with low AFP expression and those with liver cirrhosis.The G-GADA model has a better clinical application value in the noninvasive diagnosis of HCC.

Objective To investigate the level and significance of serum suprabasin(SBSN)in patients with colorectal cancer(CRC).Methods A total of 200 patients with CRC in Nanjing Medical University Af-filiated Cancer Hospital from October 2023 to October 2024 were selected as the CRC group,200 patients with colorectal polyps were selected as the benign bowel disease(BCD)group,and 177 healthy people were selected as the control group.In addition,the serum SBSN levels of 84 CRC patients 7-10 d after surgery were collect-ed.The levels of SBSN in each group were compared,and the relationship between serum SBSN level and clin-icopathological characteristics of CRC patients was analyzed.Multivariate Logistic regression was used to ana-lyze the influencing factors of CRC.The receiver operating characteristic(ROC)curve was used to analyze the diagnostic efficacy of serum SBSN alone and in combination with carcinoembryonic antigen(CEA)and carbo-hydrate antigen 19-9(CA19-9)for CRC.Results The serum SBSN level in CRC group was significantly high-er than that in BCD group and control group(P＜0.001).Serum SBSN level in CRC patients was associated with TNM stage and lymph node metastasis(both P=0.001),but not with other clinicopathological features(P＞0.05).Serum SBSN,CEA,CA19-9 were independent risk factors for CRC(P＜0.001).ROC curve anal-ysis showed that the area under the curve(AUC)of SBSN alone in the diagnosis of CRC was 0.734,which was higher than that of CEA(0.611)and CA19-9(0.669)alone,and the AUC of the three combined diagno-sis of CRC was 0.816.The sensitivity and specificity were 70.0％and 81.4％,respectively.The serum SBSN level of CRC patients decreased after operation,and the difference was statistically significant compared with that before operation(P＜0.05).Conclusion SBSN is associated with the occurrence,metastasis and progno-sis of colorectal cancer,and has a certain clinical value in the diagnosis and prediction of colorectal cancer.Ser-um SBSN is a potential biomarker for the auxiliary diagnosis of colorectal cancer.

Objective:To predict the monthly incidence of hemorrhagic fever with renal syndrome (HFRS) in Hebei Province by using the generalized additive model (GAM).Methods:The incidence data of HFRS in Hebei from 2006 to 2020 were collected, and the correlation coefficients between meteorological factors and the monthly incidence of HFRS in Hebei were analyzed by Spearman's correlation, and the meteorological factors were lagged by 0-6 orders, and those with the largest absolute values of the correlation coefficients were screened to be included in the multifactorial GAM to evaluate the effects of meteorological factors.Results:The monthly incidence of HFRS had the strongest correlation with monthly mean air temperature at lag order 2, monthly mean wind speed at lag order 0, monthly mean sunshine at lag order 4, monthly mean precipitation at lag order 2 and monthly mean humidity at lag order 1, which were diagnosed by the variance inflation factor and included in the multifactorial GAM, and the results showed significant differences among the factors (all P<0.001), and they showed non-linear relationships with the monthly incidence of HFRS. Mean monthly temperature was an important factor influencing HFRS incidence. Mean monthly air temperature, mean monthly sunshine and mean monthly wind speed were negatively associated with HFRS incidence, whereas mean monthly precipitation and mean monthly humidity were positively associated with HFRS incidence. Conclusions:There was a complex non-linear relationship between meteorological factors and the incidence of HFRS. GAM incorporated with lagged meteorological factors can be used to predict the incidence of HFRS in Hebei.

The article reports the hepatic portal venous gas and sepsis in an adolescent patient with Crohn's disease (CD) after colonoscopy in the Southwest Hospital and discusses the diagnosis and treatment of venous portal gas complicated with severe infection in CD patients.