1.Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report.
Jin-Fa TOU ; Ci-Yuan FENG ; Bin XU ; Jing-Jing YE
Chinese Journal of Contemporary Pediatrics 2025;27(8):1022-1026
This paper reports the case of a 10-month-old male infant with Beckwith-Wiedemann syndrome (BWS) who presented with a reducible right inguinal mass and an empty scrotum for 10 months and was admitted for elective surgery. Preoperative ultrasonography revealed a right adrenal mass, which was pathologically diagnosed as ganglioneuroblastoma (GNB) after surgical excision. The patient exhibited characteristic features of BWS, including omphalocele, flame-shaped nevus on the forehead, bilateral earlobe creases, and embryonal tumor. Next-generation sequencing identified a heterozygous mutation in the CDKN1C gene (chr11:2905365), confirming the diagnosis of BWS. Early diagnosis, standardized management, and tumor surveillance are crucial for improving prognosis in children with BWS. Ultrasonography enables early detection of tumors and informs clinical decision-making regarding intervention.
Humans
;
Beckwith-Wiedemann Syndrome/genetics*
;
Male
;
Ganglioneuroblastoma/complications*
;
Infant
;
Cyclin-Dependent Kinase Inhibitor p57/genetics*
;
Mutation
2.Effect of phenytoin and levetiracetam on busulfan blood concentration in children undergoing hematopoietic stem cell transplantation.
Shi-Xi XU ; Guang-Ting ZENG ; Jing-Yu WANG ; Shu-Lan LIU ; Jing LIU ; Bo-Yan DENG ; Ji-Ming LUO ; Jie LIN ; An-Fa WANG
Chinese Journal of Contemporary Pediatrics 2025;27(11):1378-1383
OBJECTIVES:
To study the effect of prophylactic phenytoin (PHT) or levetiracetam (LEV) on busulfan (BU) blood concentration in children undergoing hematopoietic stem cell transplantation.
METHODS:
Pediatric patients conditioned with BU plus cyclophosphamide and fludarabine at the First People's Hospital of Chenzhou from September 2023 to February 2025 were retrospectively included. Patients were grouped by prophylactic antiepileptic regimen into PHT (n=24) and LEV (n=26). BU blood concentrations at the end of infusion (0 hour) and at 1, 2, and 4 hours post-infusion were compared between groups.
RESULTS:
At 0 hour post-infusion, BU blood concentrations did not differ significantly between groups (P>0.05). At 1, 2, and 4 hours post-infusion, BU blood concentrations were higher in the LEV group than in the PHT group (P<0.05). The area under the concentration-time curve from 0 to ∞ (AUC0-∞) was greater in the LEV group (P<0.001), and the attainment rate of AUC0-∞ was higher in the LEV group than in the PHT group (73% vs 21%, P<0.001). No significant differences were observed between groups in time to hematopoietic engraftment or in the incidence of BU-related adverse drug reactions (P>0.05).
CONCLUSIONS
Compared with PHT, LEV prophylaxis is associated with higher BU blood concentration and a higher AUC0-∞ attainment rate. There is no observed difference in BU efficacy or safety between PHT and LEV.
Humans
;
Levetiracetam/therapeutic use*
;
Busulfan/pharmacokinetics*
;
Hematopoietic Stem Cell Transplantation
;
Male
;
Female
;
Child
;
Child, Preschool
;
Phenytoin/pharmacology*
;
Infant
;
Retrospective Studies
;
Anticonvulsants/pharmacology*
;
Adolescent
3.Biomedical Data in China: Policy, Accumulation, Platform Construction, and Applications.
Jing-Chen ZHANG ; Jing-Wen SUN ; Xiao-Meng LIU ; Jin-Yan LIU ; Wei LUO ; Sheng-Fa ZHANG ; Wei ZHOU
Chinese Medical Sciences Journal 2025;40(1):9-17
Biomedical data is surging due to technological innovations and integration of multidisciplinary data, posing challenges to data management. This article summarizes the policies, data collection efforts, platform construction, and applications of biomedical data in China, aiming to identify key issues and needs, enhance the capacity-building of platform construction, unleash the value of data, and leverage the advantages of China's vast amount of data.
China
;
Humans
;
Biomedical Research
;
Data Management
;
Data Collection
4.One Health theory and practice in China:history,present and future
Mu-xin CHEN ; Tian TIAN ; Yang HONG ; Jun-hu CHEN ; Jing-shu LIU ; Jian HE ; Xian-fa CHEN ; Qin LI ; Jin-xin ZHENG ; Tie-jian FENG ; Xiao-nong ZHOU
Chinese Journal of Zoonoses 2025;41(5):447-455
This paper summarizes the progress of theoretical research and practice of One Health in China,and discusses the paradigm of One Health governance to improve the prevention and control of infectious diseases in China and the world,and provide an example for the improvement of the public health system.In particular,China has long history to apply the concept of One Health in the national schistosomiasis control programmes and patriotic health campaigns,which were not only focusing on human health,but also emphasizing the sustainable development of animal health and ecological environment.At the same time,the application of tools such as system dynamics model,eDNA technology,One Health economic assessment and global One Health index(GOHI)in the field of disease control and environmental health provides technical support for the concept of One Health.Despite the challenges of practical application of these tools,the One Health concept will play a greater role in providing sustainable solutions for human-animal-environmental health by strengthening interdisciplinary collaboration,improving standardization protocols and promoting inter-national cooperation.
5.One Health theory and practice in China:history,present and future
Mu-xin CHEN ; Tian TIAN ; Yang HONG ; Jun-hu CHEN ; Jing-shu LIU ; Jian HE ; Xian-fa CHEN ; Qin LI ; Jin-xin ZHENG ; Tie-jian FENG ; Xiao-nong ZHOU
Chinese Journal of Zoonoses 2025;41(5):447-455
This paper summarizes the progress of theoretical research and practice of One Health in China,and discusses the paradigm of One Health governance to improve the prevention and control of infectious diseases in China and the world,and provide an example for the improvement of the public health system.In particular,China has long history to apply the concept of One Health in the national schistosomiasis control programmes and patriotic health campaigns,which were not only focusing on human health,but also emphasizing the sustainable development of animal health and ecological environment.At the same time,the application of tools such as system dynamics model,eDNA technology,One Health economic assessment and global One Health index(GOHI)in the field of disease control and environmental health provides technical support for the concept of One Health.Despite the challenges of practical application of these tools,the One Health concept will play a greater role in providing sustainable solutions for human-animal-environmental health by strengthening interdisciplinary collaboration,improving standardization protocols and promoting inter-national cooperation.
6.Advances in the application of fecal microbiota transplantation in infec-tious diseases
Jing-Ying LI ; Gao-Chen LU ; Fa-Ming ZHANG
Chinese Journal of Infection Control 2024;23(3):377-384
Intestinal flora plays an important role in the process of resisting infectious diseases.Fecal microbiota transplantation(FMT)is an important method for reconstructing intestinal microbiota,mainly includes washed mi-crobiota transplantation,transendoscopic enteral tubing,and spore group transplantation.In 2022,the Standardiza-tion Administration of China released the technical standards for Quality control of fecal microbiota washing and grading of fecal microbiota specimens,aiming to reduce adverse events related to FMT and improve the acceptance of FMT by patients and medical personnel.After the success of FMT in the treatment of recurrent Clostridioides difficile infection,its application in the treatment of other infectious diseases has also become a global research hotspot.This paper reviews the development of FMT and its application in various infectious diseases.
7.A Dataset on the Dynamic Monitoring of Health and Family Planning of China's Internal Migrants: A Multi-Wave Large-Scale, National Cross-Sectional Survey from 2009 to 2018.
Sheng-Fa ZHANG ; Wei LUO ; Zhi-Li WANG ; Jing CHEN ; Fang ZHOU ; Jing-Wen SUN ; Jia-Yang WANG ; Jing-Chen ZHANG ; Wei ZHOU
Chinese Medical Sciences Journal 2023;38(3):235-241
This data article presents data from the China Migrants Dynamic Survey (CMDS), a multi-wave, large-scale national cross-sectional survey of China's internal migrants from 2009 to 2018. The CMDS is an annual questionnaire survey conducted by the former National Health and Family Planning Commission (NHFPC) of the People's Republic of China. The respondents included in this survey are internal migrants over 15 years old. The sample was drawn from the China Migrant Population Information System, using multi-stage stratified sampling method and the probability proportional-to-size (PPS) cluster sampling strategy. Between 2009 and 2018, there were 1,527,650 internal migrants from 23 provinces, 5 autonomous regions and 4 municipalities participated in the surveys. The survey tools were a series of self-designed questionnaires with high inheritance and consistency designed and implemented by the NHFPC. The questionnaires mainly contain basic information of the respondents and their family members, migration status, healthcare or health behaviors, public health service utilization, social insurance, social integration, and family planning. The dataset is currently the most widely used survey data on China's internal migrants, offering information on migration patterns, healthcare and health behaviors, use of public health services, access to social security, social integration, and family planning, which are valuable for health planning, health decision-making, and health equity research.
United States
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Humans
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Adolescent
;
Family Planning Services
;
Transients and Migrants
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Cross-Sectional Studies
;
China/epidemiology*
;
Surveys and Questionnaires
8.Effect of P-coumaric Acid on Apoptosis of Multiple Myeloma Cells Based on Oxidative Stress.
Zhu-Fa HOU ; Bing-Jie ZHAO ; Song-Shan LIU ; Wen-Jing YI ; Hong CHE
Journal of Experimental Hematology 2023;31(2):435-441
OBJECTIVE:
To investigate the effect of p-coumaric acid on apoptosis of multiple myeloma cells and its related mechanism.
METHODS:
Multiple myeloma cell line MM.1s cells were selected and treated with different concentrations of p-coumaric acid (0, 0.4, 0.8, 1.6, 3.2 mmol/L), and the inhibition rate and half inhibition concentration (IC50) were detected by CCK-8 method. Then MM.1s cells were treated with 1/2 IC50, IC50, 2 IC50 and transfected with ov-Nrf-2 and ov-Nrf-2+IC50. The apoptosis, ROS fluorescence intensity and mitochondrial membrane potential of MM.1s cells were detected by flow cytometry, and the relative expressions of cellular Nrf-2 and HO-1 protein were detected by Western blot.
RESULTS:
P-coumaric acid inhibited the proliferation of MM.1s cells in a dose-dependent manner(r =0.997) with an IC50 value of 2.754 mmol/L. Compared with the control group, apoptosis and ROS fluorescence intensity of MM.1s cells were significantly increased in the 1/2 IC50 group, IC50 group, 2 IC50 group and ov-Nrf-2+IC50 group (P <0.01), the expressions of Nrf-2, HO-1 protein in the IC50 group and 2 IC50 group were significantly decreased (P <0.05). Compared with the IC50 group, the cells apoptosis and ROS fluorescence intensity were significantly decreased (P <0.01), and the expressions of Nrf-2 and HO-1 protein were significantly increased in the ov-Nrf-2+IC50 group (P <0.01).
CONCLUSION
P-coumaric acid can inhibit the proliferation of MM.1s cells and may target the Nrf-2/HO-1 signaling pathway to affect oxidative stress in MM cells thereby inducing their apoptosis.
Humans
;
Reactive Oxygen Species/pharmacology*
;
Cell Line, Tumor
;
Multiple Myeloma
;
Oxidative Stress
;
Apoptosis
9.Programmed Intermittent Epidural Bolus in Comparison with Continuous Epidural Infusion for the Effects of Enhanced Recovery after Cesarean Section
Xiao-fei MO ; Fa HUANG ; Jie-qun ZENG ; Tian-yu CHEN ; Geng-xing HE ; Jing-hui CHEN ; Wen-xing LIU
Journal of Sun Yat-sen University(Medical Sciences) 2023;44(1):93-98
ObjectiveTo compare the effects of programmed intermittent epidural bolus (PIEB) and continuous epidural infusion (CEI) on enhanced recovery after cesarean section. MethodsTotally 120 women scheduled to undergo elective cesarean section under combined spinal and epidural anesthesia, aged 18-45 years, with single fetus, full-term pregnancy (≥37 weeks), ASA grade II or III, were recruited, with 60 cases in each group. At the end of the surgery, after a similar epidural loading dose, patients were randomLy assigned to receive either PIEB (6 mL·h-1 beginning 30 minutes after the loading dose) or CEI (6 mL·h-1, beginning immediately after the loading dose) for the maintenance of analgesia with 0.1% ropivacaine. At 2, 6, 12, 24 and 36 h postoperatively, VAS score was used to evaluate the composite pain, and Bromage Score was used to evaluate the degree of lower extremity motor block. The time to first flatus, time to first ambulation and the satisfaction scores were also recorded. ResultsThe VAS scores at 12, 24 and 36 h postoperatively and the lower extremity motor block scores at 6, 12 and 24 h postoperatively in the PIEB group were significantly lower than those in the CEI group (P < 0.01). The epidural analgesic dosage was less in the PIEB group than that of the CEI group (P=0.002). The time to first flatus and time to first ambulation were significantly shorter than those in the CEI group (P < 0.05). The satisfaction scores were significantly higher in the PIEB group than in the CEI group (P < 0.05). There was no significant difference in the first urination time after urinary catheter removal and the length of hospital stay between the two groups (P > 0.05). ConclusionCompared with CEI, PIEB provides better postoperative analgesia, less motor block scores, lower epidural analgesic dosage, shorter the time to first flatus and defecation and time to first ambulation, and greater patient satisfaction, which is more consistent with the ERAS concept of analgesia.
10.Application and prospect of gene therapy for fundus vascular diseases
Chao-Yang ZHANG ; Jing-Xiang ZHANG ; Jing-Fa ZHANG
International Eye Science 2023;23(3):400-406
Fundus vascular diseases, including neovascular age-related macular degeneration(nAMD)and diabetic retinopathy(DR), are the leading causes of visual impairment worldwide. With the accelerated aging and increased incidence of diabetes, the prevalence of these two fundus diseases will continue to rise. Currently, intraocular injection of anti-vascular endothelial growth factor(anti-VEGF)remains the first-line treatment for fundus vascular diseases, but disadvantages exist, such as frequent intraocular injections, high cost and poor compliance, thus more durable and effective therapeutic strategies need to be explored. The successful application of gene therapy in inherited retinal diseases(IRDs)provides a new idea for the treatment of fundus vascular diseases. With the ongoing of several clinical trials, gene therapy for fundus vascular diseases is expected to be employed in the clinical setting. But there still remain some concerns, including the optimal therapeutic targets selection, administration route and safety issues. This review focuses on the application and prospect of gene augmentation and gene editing-mediated anti-VEGF therapy for the treatment of nAMD and DR.

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