1.Clinical and genetic analysis of children with Silver-Russell syndrome.
Liming ZHANG ; Guimei PAN ; Dongxia FU ; Xue WU ; Yongxing CHEN
Chinese Journal of Medical Genetics 2026;43(4):259-264
OBJECTIVE:
To summarize the clinical and genetic characteristics of children with Silver-Russell syndrome (SRS) and improve the recognition of this disease.
METHODS:
A retrospective analysis was conducted on the clinical manifestations and genetic testing results of 29 children with SRS diagnosed at the Children's Hospital Affiliated to Zhengzhou University between March 2016 and June 2025.
RESULTS:
The 29 children had included 18 boys and 11 girls, with the age ranging from 2 months to 16 years. Their primary clinical manifestations included postnatal growth retardation (100%), small for gestational age (SGA) (100%), characteristic facial features (90%), limb asymmetry (83%), feeding difficulties (76%), ulnar deviation of the fifth finger (69%), body mass index (BMI) of < -2 SD (62%), and abnormal bone age (55%), including 15 cases with delayed bone age for an average of 1.5 years and 1 case with advanced bone age for 2.5 years. Additional manifestations included abnormal sexual development in 11 cases (38%), dental malocclusion in 11 cases (38%), allergic diseases in 10 cases (34%), cardiac diseases in 9 cases (31%), skeletal abnormalities in 7 cases (24%), renal hypoplasia in 5 cases (17%), and abnormal cranial MRI findings in 5 cases (17%). Twenty children were treated with recombinant human growth hormone (rhGH) at a dose of 0.1 ~ 0.15 U/(kg.d). Among them, 7 cases achieved annual height increase of ≥ 10 cm, 11 cases achieved annual height increase of ≥ 5 ~ 9 cm, and 2 cases achieved annual height increase < 5 cm. Twenty three children exhibited hypomethylation of imprinted genes in the chromosome region of 11p15, 4 presented maternal uniparental disomy of chromosome 7 [UPD(7)mat], and 2 had harbored nonsense variants of the HMGA2 gene.
CONCLUSION
SRS patients may present with diverse clinical manifestations including postnatal growth retardation, SGA, characteristic facial features, limb asymmetry, feeding difficulties, and ulnar deviation of the fifth finger. Most patients may exhibit abnormal methylation in the 11p15 region. rhGH therapy can improve the height of these patients.
Humans
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Silver-Russell Syndrome/diagnosis*
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Male
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Female
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Child
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Child, Preschool
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Infant
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Adolescent
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Retrospective Studies
2.Clinical observation of Zhengxintai granules in the treatment of microvascular angina for acute ST-segment elevation myocardial infarction patients with qi deficiency and blood stasis syndrome after PCI
Wenhui MA ; Ying ZHANG ; Lei LIU ; Xiuyan YU ; Yali CHEN ; Liming CHEN
China Pharmacy 2026;37(15):2023-2029
OBJECTIVE To investigate the clinical efficacy and safety of Zhengxintai granules as in the treatment of microvascular angina (MVA) following percutaneous coronary intervention (PCI) in patients with acute ST-segment elevation myocardial infarction (STEMI) and qi deficiency and blood stasis syndrome. METHODS Patients with STEMI and qi deficiency and blood stasis syndrome who underwent PCI and developed MVA and were admitted to the Jinan Fourth People’s Hospital (Jinan Cardiovascular Hospital) from March 2022 to March 2025 were selected, they were randomly divided into the control group and the observation group according to a random number table, with 76 cases in each group. Patients in the control group received conventional Western medicine treatment combined with a placebo, while patients in the observation group received Zhengxintai granules (5 mg per dose, three times daily, for 8 weeks) in addition to conventional Western medicine treatment. The clinical efficacy [including the total effective rate of traditional Chinese medicine (TCM) syndrome improvement and the total effective rates of Western clinical efficacy] was compared between the two groups. The following indicators were detected before and after treatment: TCM syndrome scores, angina pectoris episodes [daily attack frequency, duration per attack, Visual Analogue Scale (VAS) score], cardiac function indicators [lactate dehydrogenase (LDH), N-terminal pro-B-type natriuretic peptide (NT-proBNP), left ventricular end-diastolic dimension (LVEDD), left ventricular end-systolic dimension (LVESD), left ventricular ejection fraction (LVEF), cardiac output (CO), fractional shortening (FS)], coagulation function indicators [thrombin time (TT), prothrombin time (PT), fibrinogen (FIB)], fibrinolytic marker (D-dimer), vascular endothelial function indicators [vascular endothelial growth factor (VEGF), nitric oxide (NO), endothelin-1 (ET-1)] and myocardial microcirculation hemodynamic indicators [end-diastolic velocity (EDV), peak systolic velocity (PSV), resistance index (RI), pulsatility index (PI)]. The quality of life [Seattle Angina Questionnaire (SAQ) score] and the incidence of adverse reactions were also compared between the two groups. RESULTS There was no patient dropout during the entire course of the study. The total effective rates of improvement in TCM syndromes and the total effective rates of Western clinical efficacy in the observation group were significantly higher than those in the control group (93.42% vs. 82.89%, 94.74% vs. 84.21%, P<0.05). Before the treatment, the comparison of each examination indicator between the two groups showed no statistically significant differences (P>0.05). Compared with before treatment, the TCM syndrome scores, the number of daily angina pectoris attacks and the duration of each attack, the VAS scores, LDH, NT-proBNP, FIB, D-dimer, ET-1 levels, LVEDD, LVESD, RI and PI after treatment in both groups were significantly reduced, shortened or decreased (P<0.05); VEGF and NO levels, LVEF, CO, FS, TT, PT, EDV, PSV, and the standard scores of five dimensions including angina pectoris stability, as well as the total scores of SAQ, all significantly increased or prolonged (P<0.05). Furthermore, the improvements in the aforementioned indicators (except for LVEF) in the observation group were significantly greater than those in the control group (P<0.05). There was no statistically significant difference in the total incidence of adverse reactions between the two groups (P>0.05). CONCLUSIONS Zhengxintai granules, when used as an adjunct to conventional Western medicine, can significantly alleviate the related symptoms of MVA in STEMI patients with qi deficiency and blood stasis syndrome after PCI, repair damaged cardiac function, restore the balance of the coagulation-fibrinolysis system, improve vascular endothelial function and myocardial microcirculation perfusion, and significantly enhance the quality of life of patients
3.Analysis of oral health status and knowledge, attitude and practice intervention effects among third grade primary school students in Guizhou Province
Chinese Journal of School Health 2026;47(7):945-949
Objective:
To evaluate oral health status and knowledge, attitude and practice (KAP) among third grade primary school students after the implementation of the Comprehensive Intervention Project for Childhood Oral Diseases in Guizhou Province, so as to provide evidence for program optimization.
Methods:
Using a multistage cluster sampling method, oral examinations and questionnaire surveys were conducted among third grade primary school students in schools covered by the Comprehensive Intervention Project for Childhood Oral Diseases in Guizhou Province (intervention group, n =1 030) and schools not covered by the program (control group, n =1 130) in November 2023. A follow up survey was conducted one year after the project s implementation (December 2024) to evaluate the differences in oral health status and KAP between the two groups. The t-test and χ 2 test were used to compare means and rates, respectively.
Results:
One year after implementation, the permanent caries prevalence, caries filling ratio, mean dmft/DMFT, and mean simplified debris index in the intervention group were 33.3%, 22.3 %, 3.44±3.10, 0.77±0.56, which were all better than those in the control group (39.8%, 17.3%, 3.89±2.85, and 0.87± 0.63 ) ( χ 2/ t =9.87, 8.78, -2.59, -3.91,all P <0.05). After intervention, the levels of oral health knowledge, attitude and behaviors in the intervention group were better than those in the control group ( Z =7.69, 2.35, 2.10, all P <0.05). Except for the item "fluoride has no protective effect on teeth", the correct response rates of other oral health knowledge items in the intervention group were higher than those in the control group ( χ 2=3.92-163.94, all P <0.05). The reported rates of tooth brushing related behaviors and sugary beverage consumption were higher in the intervention group than in the control group ( χ 2=4.02-11.42,all P <0.05).
Conclusions
The Comprehensive Intervention Project for Childhood Oral Diseases improves children s oral health status, oral health knowledge, and some oral health behaviors, but has limited effects on some behaviors and oral health attitudes. Future efforts should focus on the factors influencing the transformation of children s oral health attitudes and behaviors, along with strengthening long term follow up evaluations.
4.Hepatitis C virus infection status among drug users in Baoshan District
CHEN Jianshuang ; ZHU Liming ; LE Boxin ; WANG Chengyi ; LIU Xiaofeng ; HE Fan
Journal of Preventive Medicine 2025;37(2):168-172
Objective:
To investigate the prevalence and influencing factors of hepatitis C virus (HCV) infection among drug users in Baoshan District, Shanghai Municipality, so as to provide insights into strengthening HCV intervention among drug users.
Methods:
Drug users under community management in Baoshan District from 2017 to 2023 were recruited. Demographic information, drug use behaviors, sexual behaviors and receipt of intervention service were collected through questionnaire surveys. Blood samples were collected for HCV antibody testing, and the prevalence of anti-HCV antibody was analyzed. Factors affecting the prevalence of anti-HCV antibody among drug users were analyzed using a multivariable logistic regression model.
Results:
A total of 2 801 drug users were surveyed, including 2 233 males (79.72%) and 568 females (20.28%). The majority of drug users were aged 40 to <60 years (1 663 drug users, 59.37%). The prevalence of anti-HCV antibody was 28.35%, showing an overall upward trend from 2017 to 2023 (P<0.05). Multivariable logistic regression analysis showed that females (OR=1.468, 95%CI: 1.169-1.844), 40 years and over (40 to <50 years, OR=2.441, 95%CI: 1.838-3.242; 50 to <60 years, OR=2.377, 95%CI: 1.787-3.161; 60 to 97 years, OR=1.637, 95%CI: 1.163-2.304), using traditional drugs (OR=2.488, 95%CI: 1.967-3.147) or mixed drugs (OR=2.950, 95%CI: 1.974-4.409), having injected drugs (not share needles, OR=3.649, 95%CI: 2.849-4.673; share needles, OR=3.532, 95%CI: 1.851-6.738) and never using condoms during sexual contacts with spouses/cohabitants in the past year (OR=1.975, 95%CI: 1.354-2.879) were associated with a higher prevalence of anti-HCV antibody; the educational level of high school/technical secondary school (OR=0.483, 95%CI: 0.280-0.835) or college and above (OR=0.280, 95%CI: 0.129-0.608) was associated with a lower prevalence of anti-HCV antibody.
Conclusions
The prevalence of anti-HCV antibody among drug users in Baoshan District showed an upward trend from 2017 to 2023. Gender, age, educational level, type of drugs, history of drug injection and never using condoms during sexual contacts with spouses/cohabitants were influencing factors for prevalence of anti-HCV antibody among drug users.
5.Relationship between ambient air pollution and vitamin D in Chinese adults
Hongjing SHI ; Yating HUANG ; Canqing YU ; Dianjianyi SUN ; Pei PEI ; Huaidong DU ; Junshi CHEN ; Zhengming CHEN ; Liming LI ; Jun LYU
Chinese Journal of Epidemiology 2025;46(8):1328-1336
Objective:To investigate the relationship between individual and combined exposure to ambient air pollutants and vitamin D, as well as the potential role of ultraviolet radiation (UVR) in mediating the relationships.Methods:This study included 6 967 participants from the China Kadoorie Biobank, whose baseline (2004-2008) blood 25-hydroxyvitamin D had been tested. The average monthly concentrations of pollutants (PM 2.5, PM 10, NO 2, O 3) and the UVR estimates in the month of blood sample collection were derived from the ChinaHighAirPollutants and ultraviolet datasets covering China, respectively. Linear models and multinomial logistic regression models were used to analyze the associations of each air pollutant with vitamin D concentrations and groups. Principal component analysis integrated with quantile-based g-computation was applied to evaluate the co-effects and relative contribution weights of air pollutants. Mediation analyses were performed to investigate the potential role of UVR. Results:PM 2.5, PM 10, NO 2, and O 3 were individually associated with vitamin D concentrations, as well as vitamin D groups: insufficiency (20-30 ng/ml) and deficiency (<20 ng/ml). For each 10 μg/m3 increase in monthly PM 2.5, PM 10, NO 2, and O 3, the percentage changes (95% CIs) in vitamin D concentrations were -1.71% (-2.16% - -1.26%), -1.30% (-1.60% - -1.00%), -3.77% (-4.60% - -2.93%), and 1.27% (0.91%-1.63%), respectively, with corresponding ORs (95% CIs) for vitamin D deficiency of 1.17 (1.06-1.29), 1.12 (1.05-1.19), 1.66 (1.38-2.00), and 0.81 (0.74-0.89). The mixture of the first principal component of PM 2.5 and PM 10 (PM), along with NO 2 and O 3, was negatively correlated with vitamin D. The percentage change (95% CI) in vitamin D concentrations for a one-quintile increase in the mixture was -2.20% (-3.56%- -0.82%), with NO 2 contributing the most (83%), followed by PM (17%). UVR-mediated association was 12.2% (95% CI:2.5%-23.0%) for PM 2.5 and 4.9% (95% CI:2.2%-8.0%) for PM 10 with vitamin D concentrations, respectively. Conclusion:Higher concentrations of particulate matter, NO 2, and a mixture of air pollutants were associated with lower vitamin D concentrations in Chinese adults, with reduced UVR acting as a partial mediator in the particulate matter-vitamin D relationship.
6.Progress in research of the definition of multimorbidity
Zhiyi CHEN ; Yuting HAN ; Dianjianyi SUN ; Canqing YU ; Yuanjie PANG ; Liming LI ; Jun LYU
Chinese Journal of Epidemiology 2025;46(7):1283-1288
With the rapid global population aging, multimorbidity is becoming a more serious public health problem, to which medical researchers have paid close attention. A standardized definition of multimorbidity is essential for relevant research. However, there is a lack of consensus on the definition of multimorbidity, which makes it difficult to compare results among studies and replicate important findings. Based on the conceptual comparison, this paper summarizes the key dimensions of the definition of multimorbidity, including the number and types of conditions, the granularity of classification, methods for obtaining outcomes, and settings and objectives of research. It also discusses the inherent relationships among the dimensions and their impact on research results, and introduces the characteristics of the commonly used condition lists in current multimorbidity definition research. By suggesting areas for improvement in the multimorbidity definition system, it aims to enhance the understanding of multimorbidity research and achieve consensus on the definition, thereby facilitating further multimorbidity research.
7.Diabetic neurogenic bladder combined with empyema cystitis:a case report
Hailan CHEN ; Liming LU ; Aiguo WANG
Chinese Journal of Diabetes 2025;33(9):707-710
Diabetic neurogenic bladder(DNB)is an autonomic neuropathy,which is a common complication of diabetes mellitus(DM)with a high disability rate.Emphysematous cystitis(EC)is a rare and life-threatening urological disease.A patient with DNB and EC was admitted to our hospital,who was complicated with bilateral hydronephrosis and double ureters.After comprehensive treatment with indwelling catheterization,intravenous application of broad-spectrum antibiotics,and Ins hypoglycemic therapy,the re-examination of urinary CT showed that bilateral hydronephrosis,double ureters,and bladder gas disappeared,and the indicators were improved compared with before.Due to the severe condition of the patient with DNB,the residual urine volume of the bladder increased day by day after the catheter was removed,which led to long-term indwelling catheter after discharge.
8.Research progress on risks prediction models for medical adhesive-related skin injuries
Ning WANG ; Liming LYU ; Chen CHEN ; Xuxu DOU
Chinese Journal of Modern Nursing 2025;31(14):1847-1852
Medical adhesive-related skin injury (MARSI) is a common clinical complication that adversely affects patients' physical and mental health. This article summarizes and analyzes MARSI risk assessment scales, the construction of MARSI risk prediction models, and comparisons of different models, aiming to provide a reference for the development of MARSI risk prediction models.
9.Epidemiological characteristics of chronic hepatitis B and establishment of prediction model based on socio-demographic index in Shenzhen, 2005-2023
Huawei XIONG ; Liming CAO ; Yanpeng CHEN ; Qiuying LYU ; Zhigao CHEN ; Jing REN ; Yan LU ; Zhen ZHANG
Chinese Journal of Epidemiology 2025;46(9):1623-1631
Objectives:To analyze the epidemiological characteristics and incidence trends of chronic hepatitis B in Shenzhen from 2005 to 2023, develop a prediction models with performance evaluation, explore its associations with social demographic index (SDI) and inform targeted prevention strategy development.Methods:Based on surveillance data of infectious diseases, descriptive epidemiological methods were applied to analyze the spatiotemporal and population distribution characteristics. A multifactorial prediction model integrating the SDI was established, and its predictive performance was evaluated by using data from 2020-2023. Model accuracy was evaluated by using root mean square error and mean absolute percentage error ( MAPE). The association between SDI and incidence rates was assessed through generalized linear models. Results:A total of 235 703 chronic hepatitis B cases were reported cumulatively in Shenzhen from 2005-2023, with an annual average incidence rate of 98.84/100 000. Long-term trends revealed a significant increase in the incidence from 2005 to 2019. The incidence rate was 2.48 times higher in men than in women, and the majority of cases occurred in age group 20-50 years. The cases were mainly workers in manufacturing and services. Seasonal incidence peaks were observed in March and during May to November. The overall SDI exhibited a consistent upward trend, and the positive correlation between SDI and incidence rate was observed in central urban districts (Futian and Nanshan). In contrast, industrial zones (Guangming and Bao'an) saw a significant decline in incidence rates due to intensified prevention interventions despite the increase of SDI level. Model predictions indicated that the multivariate long short-term memory (LSTM) deep learning model integrating SDI parameters outperformed both the spatiotemporal covariate- enhanced model and the augmented Bayesian structural time series model, with MAPE of 4.71%, 7.66% and 10.30%, respectively. Conclusion:SDI is a key social determinant associated with hepatitis B transmission risks, and dynamic thresholds can be established to develop tiered early warning mechanisms. It is suggested to integrate multisource SDI data into the LSTM framework, implement targeted interventions such as "rapid antibody screening in key areas + vaccination boosters for high-risk populations" and improve the timeliness of epidemic response through hybrid models to reduce disease burden level.
10.Adiposity-related anthropometric parameters, indoles and atherosclerotic cardiovascular disease in Chinese adults: a prospective cohort study
Jiahui SI ; Si CHENG ; Canqing YU ; Dianjianyi SUN ; Yuanjie PANG ; Pei PEI ; Huaidong DU ; Junshi CHEN ; Zhengming CHEN ; Liming LI ; Jun LYU
Chinese Journal of Epidemiology 2025;46(1):65-72
Objective:To investigate the relationship of several adiposity-related anthropometric parameters, including BMI, waist circumference (WC), waist-to-hip ratio (WHR), body fat percentage (BFP) and indoles in plasma with the incidence of atherosclerotic cardiovascular disease (ASCVD) in adults in China.Methods:In China Kadoorie Biobank (CKB) study, blood samples were collected from 2 183 participants in the first resurvey in 2008 to detect indoles. Participants' body weight, body height, WC, hip circumference, and BFP were measured at baseline survey in 2004 and resurvey in 2008, the BMI and WHR were calculated with standardized methods. The long-term follow-up of all participants started from the completion of the resurvey in 2008 until the occurrence of incident ASCVD, death, loss to follow-up or until December 31, 2018. CKB ascertained outcome status (incident ASCVD) through death and disease registries and national health insurance databases, supplemented by active follow-up. Multivariate linear regression model was used to estimate the associations of anthropometric measurements at baseline survey and the first resurvey, and changes in these measurements with 3 indoles [indole, indole-3-acetic acid (IAA), and indole-3-propionic acid (IPA)]. Cox proportional hazard regression model was used to estimate the associations between indoles and the risk for ASCVD.Results:Anthropometric measurements at baseline survey or the first resurvey were negatively associated with plasma IPA level. The regression coefficient ( β) of baseline BMI (per 1.0 kg/m 2) with 0.1 standard deviation ( SD) IPA was -0.23 (95% CI: -0.36 - -0.10) (false discovery rate=0.004). After adjusting for baseline BMI, the β of baseline WC, WHR and BFP with 0.1 SD IPA were -0.09 (95% CI: -0.18 - -0.01), -0.12 (95% CI: -0.19 - -0.05), and -0.20 (95% CI: -0.32 - -0.08), respectively. The annual change in BMI (difference between BMI in 2008 and 2004 divided by the time interval) was associated with indole and IAA, with β of 1.40 (95% CI: 0.58 - 2.21) and -1.07 (95% CI: -1.91 - -0.23), respectively, at each 0.1 increase of SD. Over a median ( Q1, Q3) follow-up of 10.46 (10.36, 10.53) years after 2008 resurvey, 236 cases of ASCVD were recorded. IAA and IPA levels were negatively associated with the risk for ASCVD, with hazard ratios for one SD increase of IAA and IPA of 0.87 (95% CI: 0.76 - 0.99) and 0.84 (95% CI: 0.73 - 0.96), respectively. Conclusions:Our results suggested that anthropometric measurements and their changing trends affect the levels of plasma imicrobial tryptophan metabolite levels, decreased levels of IAA and IPA levels are associated with increased risk of ASCVD and indoles in plasma including IPA and IAA might be the mediating factors for adiposity-induced ASCVD.


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