OBJECTIVES: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. METHODS: A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene. RESULTS: For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295). CONCLUSIONS Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
Humans ; Phenylketonurias/epidemiology* ; Female ; Male ; Retrospective Studies ; Phenylalanine Hydroxylase/genetics* ; Mutation ; Child, Preschool ; China/epidemiology* ; Child ; Infant

With the rapid development of competitive sports, the incidence of anterior cruciate ligament (ACL) injury is on the rise. Such injuries may shorten athletes′ career and lead to other long-term adverse consequences. Although athletes generally recover well after ACL reconstruction, many still struggle to return to their pre-injury performance levels. Advances in the understanding of ACL anatomy and injury mechanisms, along with the evolution of surgical techniques and rehabilitation methods, have provided more individualized and tailored options for athletes following ACL injuries. However, there is currently no consensus in China regarding surgical and rehabilitation strategies for competitive athletes aiming to return to sports after ACL injuries. To this end, the Sports Medicine Committee of the Chinese Research Hospital Association and the Editorial Board of the Chinese Journal of Trauma jointly formulated the Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury ( version 2025), and presented 14 recommendations covering surgical indications, preoperative rehabilitation, surgical timing, surgical strategies and postoperative rehabilitation strategies, aiming to improve the surgical treatment and rehabilitation system for ACL injuries in competitive athletes and facilitate their return to high-level sports performance after injury.

The development of artificial intelligence(AI)technology has provided new avenues for the public to access health information.While both domestic and international research and practical applications of health conversational AI have emerged,there remains a lack of consensus on the key issues surrounding their development.Based on a comprehensive review of domestic and international literature and multiple rounds of expert consultations,the study focuses on six issues:the definition,characteristics,application scenarios,evaluation elements,evaluation methods,as well as prospects and challenges of AI-driven health consultation systems,and develops the practice guideline for health conversational artificial intelligence.The findings aim to provide scientific reference for promoting the innovative application of AI technology in the healthcare field.

Objective:To evaluate the survival benefit of surgical treatment for intrahepatic cholangiocarcinoma.Methods:This study is conducted based on the hepatobiliary tumor registry database. From May 2009 to December 2022,a total of 704 patients who were initially diagnosed with intrahepatic cholangiocarcinoma and underwent liver resection were consecutively enrolled at the Hepatobiliary Center of the First Affiliated Hospital of Nanjing Medical University. Among them,there were 380 males and 324 females,aged ( M(IQR)) 61(15) years(range:27 to 88 years). Twenty-six (3.7%) patients received neoadjuvant therapy before surgery. The overall survival(OS) and disease-free survival(DFS) rates were estimated by life table method, and Kaplan-Meier survival curves were plotted. Log-rank test was used to compare the survival difference among tumor-node-metastasis(TNM) staging or three periods. The OS and DFS differences among lymph node groups or adjuvant treatment groups were quantified as HR with 95% CI estimated using Cox proportional-hazards model with adjustment for prognostic factors. Results:Among the 704 patients,349 cases(49.6%) underwent major hepatectomy (≥3 segments),331(47.0%) had lymph node resection during surgery,and 524 cases(74.4%) achieved R0 resection. The morbidity of Clavien-Dindo grade Ⅲ or higher complications was 16.5%(116/704),with a mortality rate of 3.0%(21/704) within 30 days post-surgery. The median OS time was 27.1 months, and the OS rates at 1-,3-,5- and 10-year were 69.1%, 42.4%,34.1% and 24.5%,respectively. The median DFS time was 10.5 months,and the corresponding DFS rates were 46.0%,25.4%,21.9% and 16.9%,respectively. According to the 8 th edition of AJCC staging system, the 5-year survival rates for ⅠA,ⅠB,Ⅱ,ⅢA,ⅢB and Ⅳ were 68.4%, 43.2%, 30.3%,32.2%,14.0% and 0,respectively. The corresponding DFS rates were 55.8%, 28.1%,13.8%,21.2%,3.3% and 0,respectively. There were no statistically significant differences of OS or DFS between stage ⅠB and Ⅱ, stage ⅠB and ⅢA, or between stage Ⅱ and ⅢA(Log-rank test:all P>0.05),while there were significant differences of OS and DFS among other stages(Log-rank test:all P<0.05). Using Cox model with adjustment for prognostic factors, there were no statistically significant differences of OS and DFS between non-lymphadenectomy group or the biopsy-N0 group and dissection-N0 group(both P>0.05). However,the overall and disease-free survival of the biopsy-N1 group or dissection-N1 group were worse than those of dissection-N0 group(both P<0.05),with overall survival being better in dissection-N1 group than biopsy-N1 group( P=0.017). Overall survival in the period from 2019 to 2022 were significantly superior to that during the periods from 2009 to 2013 and 2014 to 2018(both P<0.01). Adjusting for prognostic factors, the disease-free and overall survival of the postoperative adjuvant therapy group were significantly better than those of the observation group in the period 2019 to 2022(both P<0.01). Conclusions:Surgery remains a milestone for achieving long-term survival for patients with intrahepatic cholangiocarcinoma. Regional lymph node dissection is required for patients with lymph node metastasis. Adjuvant therapy can significantly reduce tumor recurrence and prolong overall survival.

Objective:To evaluate the clinical outcomes of radical resection and perioperative management strategies in hepatocellular carcinoma (HCC) patients with major vascular invasion and tumor thrombus.Methods:This is a retrospective case series study. From January 2010 to December 2022,clinicopathological data of 387 HCC patients who underwent liver resection at the Hepatobiliary Center of the First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed. In the cohort,there were 326 males (84.2%) and 61 females (15.8%),with an age ( M(IQR)) of 54(16) years (range: 16 to 82 years). One hundred and nineteen patients (30.7%) had macrovascular invasion without thrombus and 268 patients(69.3%) had macrovascular thrombus. Categorical variables were presented as frequencies (percentages). Survival rates were calculated using life-table analysis,and Kaplan-Meier curves were employed to depict overall survival(OS) and recurrence-free survival (RFS). Independent prognostic factors were identified by univariate and multivariate Cox regression. Results:Among 387 patients,R0 resection was achieved in 359 cases (92.8%),with R1 or R2 resection in 28 cases (7.2%). Excluding in-hospital deaths,the 354 R0-resected patients had a median OS of 19.8 months, with 1-, 3-, and 5-year OS rates were 63.3%, 35.1%, and 22.4%, respectively; median RFS was 5.6 months,and 1-, 3-, and 5-year RFS was 34.0%,18.0%,and 14.4%, respectively. Patients receiving preoperative therapy showed a median OS of 26.0 months,1-, 3-, and 5-year OS rates were 75.5%, 48.4%, and 32.5%, respectively. There was no significant difference in the OS of patients with or without preoperative therapy ( P>0.05). The median OS time of patients who received postoperative adjuvant therapy was 53.0 months, and the 1-, 3-, and 5-year OS rates were 87.9%, 59.2%, and 34.8%, respectively. The median OS time of patients who did not receive postoperative adjuvant therapy was 13.7 months, and 1-, 3-, and 5-year OS rates were 56.7%, 31.7%, and 22.4%, respectively ( P<0.01). The median RFS of patients who received postoperative adjuvant therapy was 11.6 months, and the 1-, 3-, and 5-year RFS rates were 49.6%, 29.8%, and 26.8%, respectively. The median RFS of patients who did not receive postoperative adjuvant therapy was 4.2 months, and the 1-,3-,and 5-year RFS rates were 29.2%, 16.1%, and 12.5%, respectively ( P<0.01). Multivariate analysis identified that maximum tumor diameter,postoperative adjuvant therapy,and treatment after recurrence were the independent predictors of the OS of patients with major vascular invasion and tumor thrombus (all P<0.05),while age,surgical approach,and postoperative adjuvant therapy independently influenced the RFS of patients with major vascular invasion and tumor thrombus(all P<0.05). Conclusions:HCC patients with vascular invasion/thrombus could benefit from surgery-based multimodal therapy after careful evaluation. Postoperative adjuvant therapy significantly reduces recurrence and prolongs patients′ survival.

Objective: To understand the prevalence and related factors of depressive symptoms among primary and secondary school students in the in depth monitoring counties of China s Rural Compulsory Education Nutrition Improvement Program, so as to provide a basis for prevention and psychological intervention of depressive symptoms among children and adolescents in rural areas. Methods: In November 2022, a stratified random sampling method was adopted to collect height and weight data, basic personal and family information of 7 949 primary and secondary school students from grade three to grade nine through physical measurements and questionnaires in 56 key monitoring schools implementing the Student Nutrition Improvement Program in 7 in depth monitoring counties (Jalaid Banner in Inner Mongolia, Jinzhai County in Anhui, Mao Xian in Sichuan, Tiandeng County in Guangxi, Mian County in Shaanxi, Zhaozhou County in Heilongjiang and Youxi County in Fujian), and to obtain the information related to their depressive symptoms through the self assessment questionnaire on depression. Multivariate Logistic regression analysis was conducted to analyze the prevalence of depressive symptoms among primary and secondary school students, as well as their related factors. Results: The detection rate of depressive symptoms among primary and secondary school students in the in depth monitored counties was 23.5%. Logistic regression analysis showed that the probability of detecting depressive symptoms was higher among female students, middle school students, students whose video screen duration per day was >2 h, and students whose parents marital status was divorced or widowed ( OR =1.40, 1.64, 1.60, 1.24), and students whose sleep duration reached the recommended standard, whose parents usually accompanied them daily for time was 60-<120 min and ≥120 min, and students whose mothers literacy level was middle school graduation had lower probability of detecting depressive symptoms ( OR =0.85, 0.84, 0.71, 0.76) ( P < 0.05 ). Conclusion The detection rate of depressive symptoms among students in the in depth monitoring area is high, and targeted interventions need to be developed for students to reduce the risk of mental health problems.

Objective To analyze the epidemiological distribution,microbiological characteristics,drug-resistance status,and risk factors for mortality in adult intensive care unit(ICU)patients with Klebsiella pneumoniae infection.Methods This multi-center prospective cohort study included ICU patients with suspected infection from 67 hospitals across 16 Chinese provinces/municipalities between July 1,2021 and December 31,2022.Clinical data and microbiological results were collected,and patients were divided into survival and non-survival groups according to their survival status and drug-resistance situation.Risk factors for mortality and drug resistance in ICU patients with Klebsiella pneumonia infection were determined through univariate and multivariate logistic regression analyses.Results A total of 2964 ICU-infected patients were enrolled,with 12 175 microbial specimens submitted for testing.Among these,487 specimens tested positive for Klebsiella pneumoniae.Ultimately,314 patients with Klebsiella pneumoniae infection were identified,primarily from lung infections,with a drug-resistance rate of 78.3%.The in-hospital mortality rate of ICU patients infected with Klebsiella pneumoniae was 19.8%.Univariate and multivariate logistic regression analyses revealed that older age(P=0.027),high drug-resistance rate(P=0.028),and low clinical-effectiveness rate(P<0.001)were independent risk factors for mortality in ICU patients infected with Klebsiella pneumoniae.Drug-resistance analysis showed that,compared with non-resistant cases,ICU patients with drug-resistant Klebsiella pneumoniae infection had lower pathogen-clearance rates(P=0.003),clinical-effectiveness rates(P=0.004),and antibiotic-effectiveness rates(P<0.010),and higher mortality rates(P=0.006).Patients with Klebsiella pneumoniae abdominal infection(P=0.003)and urinary tract infection(P=0.007)had higher drug-resistance incidences.There were no statistically significant differences in clinical-effectiveness rate,Klebsiella pneumoniae clearance,drug-resistance incidence,mortality rate,or hospital-stay length between patients with lung infection and those with non-lung infection of Klebsiella pneumoniae(P>0.05).Compared with patients with non-bloodstream infection,patients with bloodstream infection of Klebsiella pneumoniae had lower clinical-effectiveness rates(P=0.027)and higher mortality rates(P=0.021).Conclusions Older age,high drug-resistance rate,and low clinical-effectiveness rate are independent risk factors for mortality in ICU patients infected with Klebsiella pneumoniae.ICU patients with bloodstream infection of Klebsiella pneumoniae may have lower clinical-effectiveness rates and higher mortality rates.ICU patients with abdominal and urinary tract infections caused by Klebsiella pneumoniae are more likely to develop drug resistance.

Objective: To analyze the features of unhealthy lifestyle patterns among primary and secondary school students in the nutrition improvement program for rural compulsory education students (NIPRCES) areas in China in 2021 and 2023, so as to provide data support for lifestyle promotion and healthy development among primary and secondary school students. Methods: Adopting a cluster random sampling method, data on primary and secondary students aged 7-15 years from nutrition and health surveillance of China NIPRCES in 2021 and 2023 were collected. The prevalence of unhealthy lifestyles among primary and secondary students such as physical inactivity, outdoor inactivity, excessive screen time, and sleep deprivation by gender, school section, urban/rural, and region were analyzed. The reporting rates of the above indicators among primary and secondary students were compared by Chi-square test. Results: In 2021 and 2023, the rates of moderate to vigorous physical inactivity among primary and secondary school students were 79.2% and 80.4%, the rates of outdoor inactivity were 42.8% and 49.3%, the rates of excessive video time were 2.6% and 2.9%, the rates of sleep deprivation were 32.9% and 22.6%, and the differences were statistically significant( χ 2=51.86,1 071.48,18.36,3 296.99, P <0.05). In 2023, the rate of outdoor inactivity for primary and secondary students increased by 6.5 percentage points compared with 2021, and the rate of sleep deprivation decreased by 10.3 percentage points compared with that in 2021. In 2021 and 2023, the reporting rates of moderate to vigorous physical inactivity, outdoor inactivity, and sleep deprivation among girls and junior high school students were higher than those among boys ( χ 2=174.41,180.11; 175.75, 85.46 ;92.22,151.35) and elementary school students ( χ 2=136.64,5.75; 40.55,4.71;162.80,3 291.61); the reporting rates of moderate to vigorous physical inactivity( χ 2=194.43,118.60) and sleep deprivation ( χ 2=969.66,983.72) among urban students were higher than those among rural students; the reporting rates of excessive video time for boys and junior high school students were higher than those for girls ( χ 2=103.62,84.85) and elementary school students ( χ 2=810.09,626.51)( P <0.05). From a regional distribution perspective, the reporting rates of moderato to vigorous physical inactivity, outdoor inactivity, and excessive video time among primary and seconday school students in the central and western regions were lower than those in the eastern region ( χ 2= 663.44,302.78; 356.97,82.10;50.89,81.83) ( P <0.05). Conclusions Unhealthy lifestyles remain prevalent among primary and secondary students in NIPRCES areas of China. These findings underscore the need to strengthen policy implementation for promoting healthy lifestyles among primary and secondary school students.

Objective: To understand the prevalence of elevated blood pressure and its association with dietary patterns in children and adolescents in China, providing evidence for developing dietary intervention of hypertension in children and adolescents. Methods: Data were derived from the China Children s Nutrition and Health System Survey and Application Project(2019-2021). A stratified cluster random sampling method was used to include 7 933 participants from 28 survey sites in seven major regions of Northeast, North, Northwest, East, Central, South and Southwest China. Multivariate Logistic regression models were used to analyze associations between demographic characteristics, nutritional status and elevated blood pressure. Exploratory factor analysis identified dietary patterns, which were divided into three quartile groups (T3, T2, T1) based on factor scores (compliance for dietary pattern) from high to low, and multivariate Logistic regression model assessed the correlation between elevated blood pressure and dietary patterns. Results: The prevalence of elevated blood pressure was 15.4% among Chinese children aged 7-17 years. Significant differences were observed across nutritional status (reference: underweight; normal weight: OR =1.57; overweight: OR = 2.61 ; obesity: OR =3.85), urban/rural residence (reference: rural; urban: OR =0.86), and paternal education (reference: junior high school and below; bachelor degree or above: OR =0.68) ( P <0.05). The detection rates of high blood pressure in T3 group children and adolescents with four dietary patterns (staple food, animal based food, snacks, vegetables and fruits) were 15.7%, 14.6%, 16.8%, and 15.8%, respectively. After adjusting for residence, paternal education, and nutritional status, the "snack dietary pattern" (mainly candy, sugar sweetened beverages, and processed snacks) showed positive associations with elevated blood pressure in T2 ( OR =1.21) and T3 ( OR =1.19) tertiles ( P <0.05). Conclusions The snack dietary pattern is a related factor for elevated blood pressure in children and adolescents. Restricting unhealthy snack intake may promote cardiovascular health.

The development of artificial intelligence(AI)technology has provided new avenues for the public to access health information.While both domestic and international research and practical applications of health conversational AI have emerged,there remains a lack of consensus on the key issues surrounding their development.Based on a comprehensive review of domestic and international literature and multiple rounds of expert consultations,the study focuses on six issues:the definition,characteristics,application scenarios,evaluation elements,evaluation methods,as well as prospects and challenges of AI-driven health consultation systems,and develops the practice guideline for health conversational artificial intelligence.The findings aim to provide scientific reference for promoting the innovative application of AI technology in the healthcare field.