OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

Objective: To analyze the developmental trajectories of clustered health risk behaviors and their association with self-esteem and lonelinesss among junior high school students, so as to provide a reference for formulating comprehensive prevention and control measures of health risk behaviors among adolescents. Methods: In October 2023, 1 165 first year junior high school students from two schools of Jishou City in Hunan Province were selected by convenient sampling method for three follow up surveys (T1:October 2023; T2:April 2024; T3:October 2024). The Adolescent Health Risk Behavior Questionnaire, Rosenberg Self esteem Scale and Loneliness Scale were used to assess health risk behaviors, self esteem and loneliness, respectively. Latent growth curve modeling and latent growth mixture modeling were applied to analyze the developmental trajectories of clustered health risk behaviors among junior high school students. Logistic regression was used to analyze the association of the developmental trajectories of clustered health risk behaviors with self esteem and loneliness among junior high school students. Results: The overall developmental trajectories among junior high school students showed a declining trend (intercept=0.15, slope=-1.65, both P <0.05), with three heterogeneous categories:low risk improvement group ( n =862, 74.0%), moderate risk stable group ( n =260, 22.3%), and high risk deterioration group ( n =43, 3.7%). After adjusting the status of the left behind individuals，using the low risk improvement group as the reference category in multinomial Logistic regression analysis, results indicated that higher loneliness scores among junior high school students increased the risks of belonging to the moderate risk stable group ( OR=1.02, 95%CI =1.00- 1.04 ) and the high risk deterioration group ( OR=1.04, 95%CI =1.00-1.08), while higher self esteem scores reduced the risks of belonging to the moderate risk stable group ( OR=0.93, 95%CI =0.91-0.96) and the high risk deterioration group ( OR=0.88, 95%CI =0.83-0.94) (all P <0.05). Conclusions The overall trend of clustered health risk behaviors among junior high school students gradually improves, and the self esteem and loneliness are significant correlative factors. Targeted intervention measures should be developed for the junior high school students, with a focus on enhancing their self esteem and alleviating loneliness.

Background With China's socioeconomic development, significant lifestyle changes have occurred among occupational groups, leading to alterations in cardiovascular metabolic risk factors. However, few studies have examined the secular trends of these risk factors in China's working population. Objective To analyze the trends in cardiovascular metabolic risk factors among the occupational population in nine provinces of China from 2009 to 2018, and to explore the associations between different occupational types and these risk factors, along with their clustering patterns, thereby providing evidence for targeted interventions. Methods This study utilized data from the China Health and Nutrition Survey (CHNS) in 2009, 2015, and 2018. The dataset covered 13274 employed individuals aged 18-59 years. Only participants with complete blood test results and physical measurement data were included in the final analysis. The average annual percentage change (AAPC) in the positive rates of risk factors was calculated using Joinpoint regression to analyze temporal trends. Multinomial logistic regression and binary logistic regression models were employed to examine the cross-sectional associations between occupational types (categorized as white-collar workers, agricultural workers, blue-collar workers, service workers, and others) and nine cardiovascular metabolic risk factors and their clustering (defined as having ≥2 risk factors) in 2018. Results A total of 8451 participants were included. From 2009 to 2018, significant increasing trends (AAPC>0, P<0.05) were observed for overweight, obesity, central obesity, borderline elevated triglycerides (TG), borderline elevated to elevated total cholesterol (TC), borderline elevated low-density lipoprotein cholesterol (LDL-C), elevated blood pressure and hypertension, diabetes. The most rapid increases were found for obesity (AAPC=6.07%, 95%CI: 3.42%, 8.88%), hypertension (AAPC=4.10%, 95%CI: 0.62%, 7.77%), and central obesity (AAPC=3.27%, 95%CI: 1.24%, 5.36%). The clustering rate of risk factors increased from 62.3% in 2009 to 73.2% in 2018 (AAPC=1.87%, 95%CI: 1.02%, 2.73%). The cross-sectional analysis in 2018, after adjusting for confounders, showed that compared with white-collar workers, blue-collar workers had a significantly lower risk of overweight (OR=0.67, 95%CI: 0.48, 0.95), central obesity (OR=0.65, 95%CI: 0.45, 0.92), and borderline high TG (OR=0.54, 95%CI: 0.35, 0.82). In contrast, agricultural workers had a higher risk of hypertension (OR=1.76, 95%CI: 1.14, 2.72). Conclusion Between 2009 and 2015, the burden of most cardiometabolic risk factors increases significantly among the Chinese occupational population, with the rate of increase slowing by 2018. Risks vary across occupational types, among which blue- collar workers report lower target outcomes. Targeted interventions focusing on the rapidly increasing risk factors and high-risk occupational groups are recommended.

Background The global prevalence of obesity is on the rise and is closely associated with various chronic non-communicable diseases such as cardiovascular diseases and diabetes. There is a relative lack of long-term dynamic studies on compound obesity among occupational populations. Objective To explore the changing trends of compound obesity among different occupational groups aged 18–59 years in nine provinces (autonomous regions, municipalities) of China from 1993 to 2018, and to provide a scientific basis for formulating targeted weight management strategies for occupational populations. Methods A total of 34519 employed adults aged 18–59 years from nine waves of the China Health and Nutrition Survey in1993, 1997, 2000, 2004, 2006, 2009, 2011, 2015, and 2018 were included. Obesity types were determined according to the Chinese Adult Weight Management Guidelines. The Joinpoint regression model was used to calculate the average annual percentage change (AAPC) and annual percentage change (APC) of compound obesity rates. Results From 1993 to 2018, the age-standardized compound obesity rate among the occupational population aged 18–59 years showed an upward trend (AAPC=6.24%, 95%CI: 5.09%, 7.41%, P<0.05). The AAPCs (95%CI) for age-standardized compound obesity rates among agricultural workers, blue-collar workers, other occupational groups, service workers, and white-collar workers were 9.55% (7.51%, 11.64%), 6.18% (4.70%, 7.69%), 5.53% (2.27%, 8.90%), 4.07% (2.40%, 5.77%), and 3.89% (2.16%, 5.65%), respectively, with statistically significant differences (P<0.05). Among males, the AAPCs (95%CI) for age-standardized compound obesity rates among agricultural workers, blue-collar workers, other occupational groups, service workers, and white-collar workers were 11.52% (7.71%, 15.47%), 7.28% (6.18%, 8.40%), 5.92% (2.28%, 9.69%), 5.56% (2.11%, 9.12%), and 4.22% (2.33%, 6.15%), respectively, with statistically significant differences (P<0.05). Among females, the AAPCs (95%CI) for age-standardized compound obesity rates among agricultural workers, blue-collar workers, and white-collar workers were 7.45% (6.22%, 8.69%), 3.72% (0.84%, 6.67%), and 2.41% (0.17%, 4.70%), respectively, with statistically significant differences (P<0.05). A turning point was observed in the compound obesity rate among female white-collar workers in 2006, with an APC (95%CI) of 9.69% (5.24%, 14.33%) from 2006 to 2008, showing a statistically significant difference (P<0.05), while no significant trend was found from 1993 to 2006 (P>0.05). No significant trends were observed in the age-standardized compound obesity rates among females in other occupational groups and service workers (P>0.05). Conclusion The compound obesity rate among China's occupational population is increasing rapidly, with the growth rate among agricultural workers being particularly prominent. In 2018, male white-collar workers and female agricultural workers exhibit relatively high compound obesity rates, warranting focused attention. Although the overall growth rate among service workers is slower, the expanding workforce in this sector indicates that obesity remains a serious issue. Targeted occupational health and weight management interventions are needed in the future.

Background With rising obesity rates and earlier hypertension onset among occupational populations, there is an urgent need to elucidate the long-term cardiovascular impacts of dynamic body weight patterns. Current evidence lacks trajectory modeling studies examining occupation-specific prevention strategies. Objective To investigate the association between long-term body mass index (BMI) trajectories and incident hypertension risk in Chinese working adults, and to examine occupation-specific heterogeneity in this relationship. Methods A dynamic sub-cohort of 4 413 occupational participants was constructed from ten survey waves (1991–2018) of the China Health and Nutrition Survey (CHNS). Eligible individuals had valid key BMI records at three or more independent follow-ups before the outcome event; the individual baseline was set as the year of their first participation in the survey. Group-based trajectory modeling (GBTM) was used to identify BMI change patterns. Cox proportional hazards regression was used to calculate hazard ratios (HRs) and 95% confidence interval (CI) for hypertension incidence across trajectory groups, with stratified analysis by occupational categories. Results Among 4413 occupational participants, 1441 incident hypertension cases were reported during the follow-up window. Three long-term BMI trajectories were identified: low-stable, moderate-slowly rising, and high-rising. In Model 3 with all selected confounders adjusted, compared with the low-stable group, the moderate-slowly rising group showed a significantly higher risk of incident hypertension (HR=1.28, 95%CI: 1.12, 1.45; P < 0.001), as did the high-increasing group (HR=1.80, 95%CI: 1.45, 2.23; P < 0.001). The stratified analyses revealed occupational differences in the association. Among agricultural workers, the moderate-slowly rising group (HR=1.35, 95%CI: 1.15, 1.57) and the high-rising group (HR=2.00, 95%CI: 1.50, 2.66) both exhibited significantly increased risks of hypertension (P<0.001). Conversely, among white-collar workers, an increased risk of hypertension was observed only in the high-rising group (HR=1.97, 95%CI: 1.23, 3.17; P<0.05). Conclusion Rapid BMI escalation constitutes a significant risk factor for incident hypertension in occupational populations. Targeted long-term weight monitoring and tailored interventions are recommended for high-risk occupations.

Objective To explore the application value of dual-phase dual-energy CT (DECT) perfusion imaging in preoperative lung function assessment of lung cancer patients. Methods Data were collected from patients with stageⅠA non-small cell lung cancer who underwent surgical treatment in the Department of Thoracic Surgery, the First Affiliated Hospital of Nanjing Medical University, from November 2022 to June 2024. All patients underwent DECT perfusion imaging and pulmonary function testing (PFT) before surgery. PFT observation indicators included ventilation function indicators such as forced expiratory volume in one second (FEV1), forced vital capacity (FVC), 1-second rate (FEV1/FVC), maximal voluntary ventilation (MVV), and diffusion function indicators such as diffusing capacity for carbon monoxide (DLCO) and DLCO per liter of alveolar volume (DLCO/VA). The software eXamine was used to obtain quantitative parameters of DECT perfusion imaging, including volume parameters and perfusion parameters of both lungs and each lung lobe. The correlation between the volume parameters and perfusion parameters of both lungs and the ventilation and diffusion function indicators of the patients, as well as the differences in quantitative parameters of each lung lobe, was analyzed. Results The end-inspiration lung volume and biphasic volume difference were strongly positively correlated with FEV1 and FVC (r=0.636, r=0.682, r=0.614, r=0.624, P<0.001) and moderately positively correlated with MVV and DLCO (r=0.499, r=0.514, r=0.549, r=0.447, P<0.001); the end-expiration lung volume was weakly negatively correlated with DLCO/VA (r=−0.295, P=0.026); the volume ratio was positively correlated with FEV1, FVC, MVV, and MVV% (r=0.424, r=0.399, r=0.415, r=0.310, P<0.05); the end-inspiration iodine content was weakly positively correlated with DLCO/VA% (rs=0.292, P=0.030); the end-expiration iodine content was weakly positively correlated with FEV1, FVC, MVV, DLCO%, and DLCO/VA (r=0.307, r=0.299, r=0.295, r=0.366, r=0.320, P<0.05) and moderately positively correlated with DLCO (r=0.439, P<0.001); the end-inspiration iodine concentration was negatively correlated with FEV1, FVC, MVV, and MVV% (rs=−0.407, rs=−0.426, rs=−0.352, rs=−0.277, P＜0.05); the end-expiratory phase iodine concentration was moderately positively correlated with DLCO/VA (r=0.403, P=0.002); both the iodine concentration difference and the iodine concentration ratio were moderately positively correlated with FEV1, FEV1%, FVC, MVV, MVV% (P<0.05). The lung volume and iodine concentration ratio values were both highest in the left upper lung lobe and lowest in the right middle lung lobe; the differences in lung volume, lung volume ratio, intrapulmonary iodine content, and intrapulmonary iodine concentration were all highest in the lower lobes of both lungs and lowest in the middle lobe of the right lung. Conclusion Dual-phase DECT perfusion imaging can accurately assess overall lung function and quantify regional lung function.

Objective: The cross sectional study aimed to identify predominant co-occurrence patterns among six common mental health issues in college students, so as to provide empirical basis for designing targeted interventions. Methods: From October 2024, a total of 9 837 students from 4 universities in Xiangtan City, Hunan Province, participated in the current study by multistage random cluster sampling method. Participants completed self report measures, including the Patient Health Questionnaire-9 (PHQ-9), Generalized Anxiety Disorder 7 item Scale (GAD-7), Young s Internet Addiction Diagnostic Questionnaire, the Adolescent Insomnia Symptom Self rating Scale, the Ottawa Self injury Inventory, and the Brief Community Assessment of Psychic Experiences Questionnaire. Demographic and co-occurrence characteristics were first compared using Chi square or trend Chi-square tests, followed by application of the Apriori algorithm to mine association rules for primary co-occurrence patterns. Results: The detection rate of co-occuring the common mental health issues was 46.44%. The detection rate was significantly higher in female than in male students (50.42%, 43.61%; χ 2=44.46) and in students from rural versus urban areas (47.22%, 44.60%; χ 2=5.67) (both P <0.05). Significant differences were observed among freshmen, sophomores, juniors, and seniors (46.63%, 48.35%, 45.05% , 43.66%, respectively; χ 2=9.22, P <0.05), although no statistically significant trend was detected ( χ 2 trend =3.75, P = 0.05 ). Association rule mining identified “anxiety + depression” “anxiety + psychotic experiences + depression” and “anxiety + sleep disorder + depression” as the combinations with the highest support. In addition, “anxiety+depression+Internet addiction+psychotic experiences =>sleep disorder (>= refered to the occurrence of the latter item under the condition that the former item occurs)” and “anxiety + depression+Internet addiction=>sleep disorder” were combinations with relatively high confidence. Conclusions Co-occurrence of these mental health issues among college students is high and exhibits diverse patterns. Strategies to address this burden should prioritize integrated interventions that target these specific combinations of factors.

ObjectiveTo evaluate the public health governance capacity in Jiangsu Province and provide an optimized pathway for the construction of a “strong, rich, beautiful, and high-quality” new Jiangsu. MethodsA total of 806 policy documents, 658 public information reports, and 148 research literatures related to public health governance capacity in Jiangsu Province from January 1995 to December 2023 were collected. The status of current public health goverance was assessed based on the evaluation criteria suitable for public health systems, and the strengths and the weaknesses of the system were identified. ResultsThe public health governance capability of Jiangsu Province was scored at 738.3 points, ranking 3rd nationally. Maternal health care and emergency response capacities achieved leading positions nationwide, both ranking 2nd. Jiangsu had exhibited a standardized guidance in the strategic level, a well-established management mechanism, an extensive coverage in information collection, and a scientifically established health targets setting. However, bottlenecks remained, including an unclear division of responsibilities across organizational departments, an insufficient public-health workforce, the absence of a stable growth mechanism for government funding investment, and difficulties in promptly identifying public needs. ConclusionJiangsu’s public-health system demonstrates leading nationally, yet several components remain underdeveloped. Future efforts should consolidate advantages while addressing weaknesses, further diversify content and forms, establish a stable funding increase mechanism, and clarify departmental functions, thereby providing solid health support for realizing the developmental goals of a “strong, rich, beautiful and high-quality” new Jiangsu.

ObjectiveTo systematically assess the public health governance capacity in Zhejiang Province, to conduct an in-depth analysis of its strengths and weaknesses, so as to provide scientific basis and strategic recommendations for further enhancement. MethodsA systematic collection of policy documents, public information reports, and research literature related to public health governance capacity in Zhejiang Province from 2002 to 2023 was conducted (encompassing a total of 1 263 policy documents, 138 pieces of information reports and 631 research articles). Based on the evaluation criteria suitable for public health systems previously developed by the research team, the basic status and magnitude of change in public health governance capacity in Zhejiang Province was evaluated. Additionally, normative gap analyses were employed to identify the strengths and weaknesses. ResultsZhejiang Province ranked 4th nationwide in terms of public health governance capacity with a score of 733.4 points (1 000.0-point maximum). The province has effectively implemented the principle of health first (scoring 698.5 points in the assessment of health-first strategy implementation) and attached sufficient importance to health-related goals (scoring 658.2 points in the scientific rationality of goal setting). However, the implementation of inter-departmental coordination and incentive mechanisms only scored 178.7 points, the feasibility of management and monitoring mechanisms scored even lower at only 144.0 points, and the coverage of incentive mechanisms scored 286.0 points. ConclusionZhejiang Province has effectively implemented its health first strategy and attached great importance to health targets, but still needs to strengthen cross-departmental coordination mechanisms and health-oriented incentives.

Compared with traditional therapies for chronic liver disease （CLD）， Bifidobacterium has the characteristics of multi-target intervention， high biosafety， and good host compatibility and provides new strategies for intervention of CLD progression in terms of microecological regulation. Various studies have shown that Bifidobacterium regulates liver homeostasis and exerts a therapeutic effect on CLD by regulating intestinal flora， maintaining antioxidation， promoting energy consumption， alleviating inflammation， improving glycolipid metabolism， and exerting an antitumor effect. This article systematically reviews the studies on Bifidobacterium in the treatment of CLD in China and globally， explores their different mechanisms， and elaborates on the interaction between related signaling pathways （such as the nuclear factor erythroid 2-related factor 2 signaling pathway and the adenosine monophosphate-activated protein kinase signaling pathway） and the liver， in order to provide a basis for probiotic intervention in liver pathology， as well as new ideas for the comprehensive treatment of CLD.