1.A Case of Multidisciplinary Treatment for Deficiency of Adenosine Deaminase 2
Jingyuan ZHANG ; Xiaoqi WU ; Jiayuan DAI ; Xianghong JIN ; Yuze CAO ; Rui LUO ; Hanlin ZHANG ; Tiekuan DU ; Xiaotian CHU ; Peipei CHEN ; Hao QIAN ; Pengguang YAN ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2025;4(3):316-324
This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the
2.Establishment and application of a detection method for hepatitis E virus in shellfish based on nanoplate digital PCR
Qiuyuan WANG ; Ruiting ZHANG ; Wenjiao YIN ; Jingyuan CAO ; Juan SONG ; Ke XU
Chinese Journal of Experimental and Clinical Virology 2025;39(5):631-637
Objective:To establish a digital reverse transcription polymerase chain reaction(dRT-PCR)detection method for hepatitis E virus(HEV)using nanoplates,and to provide technical reference for HEV monitoring in shellfish by combining virus enrichment pretreatment methods.Methods:The annealing temperature,primer and probe concentrations of HEV dRT-PCR were optimized,and the specificity of the method was evaluated;the sensitivity of this method for detecting HEV in water samples and oyster extracts was compared. The inhibition rate and recovery rate of HEV detection in artificially contaminated oyster samples were calculated,commercially available oyster samples were tested,and compare them with real-time fluorescence quantitative RT-PCR(qRT-PCR)method.Results:The optimized annealing temperature for HEV dRT-PCR was determined to be 60 ℃,and the final concentrations of primers and probes were 0.4 μmol/L,0.4 μmol/L,and 0.2 μmol/L,respectively,indicating good specificity. The sensitivity of both methods for detecting HEV RNA in water samples was higher than that in oyster extracts. The recovery rates of HEV in oyster specimens contaminated with HEV fecal suspension by dRT-PCR and qRT-PCR were 18.76% and 18.36%,respectively,with no statistically significant difference( P>0.05);the inhibition rates were 17.26% and 9.58%,respectively,with statistically significant differences( P<0.05);55 commercially available oyster samples were tested,and both methods detected HEV RNA positivity in the same sample. Conclusion:The dRT-PCR method established in this study,combined with “proteinase K digestion,PEG/NaCl precipitation,and chloroform/n-butanol extraction” pretreatment,has a good recovery effect on HEV in shellfish food containing a large amount of PCR inhibitors,and can achieve absolute quantification. It has certain application value in monitoring and risk assessment of HEV in shellfish food.
3.Bibliometric analysis and reflections on the current status of traditional Chinese medicine systematic reviews and Meta-analysis in the past decade
Jiaying WANG ; Yi ZHAO ; Ru DUAN ; Jingting LIU ; Yun WU ; Jisheng ZHANG ; Xuemei XIANG ; Yifei GU ; Yu TIAN ; Yawen CAO ; Bin LI ; Xianliang WANG ; Jingyuan MAO
Chinese Journal of Pharmacoepidemiology 2025;34(1):57-68
Objective To understand the current status of traditional Chinese medicine(TCM)systematic reviews/Meta-analysis over the past 10 years.Methods Cochrane Database of Systematic Reviews,PubMed,Web of Knowledge,CNKI,SinoMed,WanFang Data,VIP databases,as well as the Cochrane Register and PROSPERO registration platform were searched to collect TCM-related systematic reviews/Meta-analysis published between January 2015 and December 2024.Literature was screened,and standardization of institutions,countries,and journals was performed.Data cleaning was conducted,and trends in publication years,high-frequency diseases,journals,institutions,and highly cited papers were analyzed.Results A total of 11,174 papers were included,involving approximately 56,656 authors from 1,422 institutions across 44 countries,covering 1,300 journals and 1,070 diseases.The top five institutions in terms of publications were Beijing University of Chinese Medicine(954 papers),Guangzhou University of Chinese Medicine(928 papers),China Academy of Chinese Medical Sciences(537 papers),Tianjin University of Chinese Medicine(460 papers),and Chengdu University of Chinese Medicine(393 papers).Foreign institutions with the highest publication volumes were concentrated in South Korea,Iran,and Australia.The most frequently published Chinese journal was Zhongyi Clinical Research with 332 papers,while the most published English journal was Evidence-Based Complementary and Alternative Medicine with 311 papers.There were 282 single-author papers involving 271 authors,and the most cited paper was referenced 323 times,The three most frequently studied diseases were diabetes(267 papers,2.39%),angina pectoris(214 papers,1.92%),and osteoarthritis(210 papers,1.88%).Non-pharmacological interventions such as acupuncture(1,265 papers,11.32%),auricular therapy(101 papers,0.90%),and Tai Chi(98 papers,0.88%)were most frequently reported.In pharmacological interventions,studies on Tripterygium wilfordii tablets(76 papers,0.68%)and Danhong injection(54 papers,0.48%)were more common.Conclusion The systematic reviews/Meta-analysis method is widely used in the field of TCM,and the field continues to grow.Active academic teams,institutions,and journals have emerged.Over the past decade,there has been a considerable body of evidence in Chinese systematic reviews on TCM for chronic diseases such as diabetes,angina pectoris,and osteoarthritis.In English-language studies,non-pharmacological therapies like acupuncture have been more widely reported,and some high-impact studies have emerged.However,challenges remain,such as issues with research transparency and methodological standardization.Future efforts should focus on establishing transparent systems and quality control mechanisms to further enhance the reliability,accuracy,and dissemination of TCM evidence-based research.
4.Establishment and application of a detection method for hepatitis E virus in shellfish based on nanoplate digital PCR
Qiuyuan WANG ; Ruiting ZHANG ; Wenjiao YIN ; Jingyuan CAO ; Juan SONG ; Ke XU
Chinese Journal of Experimental and Clinical Virology 2025;39(5):631-637
Objective:To establish a digital reverse transcription polymerase chain reaction(dRT-PCR)detection method for hepatitis E virus(HEV)using nanoplates,and to provide technical reference for HEV monitoring in shellfish by combining virus enrichment pretreatment methods.Methods:The annealing temperature,primer and probe concentrations of HEV dRT-PCR were optimized,and the specificity of the method was evaluated;the sensitivity of this method for detecting HEV in water samples and oyster extracts was compared. The inhibition rate and recovery rate of HEV detection in artificially contaminated oyster samples were calculated,commercially available oyster samples were tested,and compare them with real-time fluorescence quantitative RT-PCR(qRT-PCR)method.Results:The optimized annealing temperature for HEV dRT-PCR was determined to be 60 ℃,and the final concentrations of primers and probes were 0.4 μmol/L,0.4 μmol/L,and 0.2 μmol/L,respectively,indicating good specificity. The sensitivity of both methods for detecting HEV RNA in water samples was higher than that in oyster extracts. The recovery rates of HEV in oyster specimens contaminated with HEV fecal suspension by dRT-PCR and qRT-PCR were 18.76% and 18.36%,respectively,with no statistically significant difference( P>0.05);the inhibition rates were 17.26% and 9.58%,respectively,with statistically significant differences( P<0.05);55 commercially available oyster samples were tested,and both methods detected HEV RNA positivity in the same sample. Conclusion:The dRT-PCR method established in this study,combined with “proteinase K digestion,PEG/NaCl precipitation,and chloroform/n-butanol extraction” pretreatment,has a good recovery effect on HEV in shellfish food containing a large amount of PCR inhibitors,and can achieve absolute quantification. It has certain application value in monitoring and risk assessment of HEV in shellfish food.
5.Propensity score matching analysis of the impact of left behind experience on the mental health of secondary vocational school students
ZHOU Quanxiang, SHE Fuqiang, WAN Yan, HE Xuehua, YANG Jingyuan, CAO Xianming, XU Xiangyang
Chinese Journal of School Health 2025;46(3):353-357
Objective:
To understand the impact of left behind experience on the mental health of secondary vocational school students, so as to provide theoretical basis for the psychological health education of secondary vocational school students.
Methods:
From September to December in 2019, a total of 3 401 students from Duyun, Guiding and Pingtang County were selected by multi stage cluster random sampling method. Self designed questionnaire and Symptom Check List-90(SCL-90) were used to investigate mental health status. A total of 1 415 left behind students and 1 415 non left behind students were matched by using propensity score matching (PSM). Wilcoxon test and Logistic regression analysis were conducted.
Results:
Before the matching of propensity score, there were statistically significant differences in the distribution of family structure, mother s educational level, family residence,family harmony and children s past health among the students with or without left behind experience ( χ 2=28.17, 52.40, 96.31, 29.75 , 19.10, P <0.05). After the matching, there were no statistically significant differences in the distribution of the above variables among the students with or without left behind experience ( χ 2=0.02-4.32, P >0.05). Before the matching of propensity scores, there were significant differences in the scores of 10 dimensions of SCL-90, including somatization (1.67,1.58), interpersonal sensitivity (2.00,1.89), anxiety (1.90,1.70), obsessive compulsive symptoms (2.20, 2.10), depression (2.00, 1.85), hostility (1.83, 1.67), terror (1.85, 1.71), paranoia (1.83, 1.67), psychotic (1.70, 1.60) and other (1.85, 1.71) dimensions among secondary vocational school students with or without left behind experience ( Z=-5.15 to -2.84, P <0.05). After propensity score matching, there were significant differences in scores remained only in three factors for interpersonal sensitivity [(2.00(1.56,2.67),2.00(1.44,2.56)], paranoia [1.83(1.33,2.50),1.83(1.33,2.33)] and psychoticism [1.70(1.30,2.30),1.70(1.20,2.20)] in SCL- 90 among secondary vocational students with or without left behind experience ( Z=-2.45, -2.12, -2.23, P <0.05).
Conclusion
The impact of left behind experience on the mental health of vocational school students is mainly reflected in interpersonal sensitivity, paranoia, and psychoticism, which should be identified as key areas of psychological education for secondary vocational school students.
6.Characteristics of cardiac lesions in 17 patients with Fabry disease
Junlan YANG ; Zhiyuan WEI ; Bin WANG ; Zuolin LI ; Jingyuan CAO ; Li SUN ; Weiwei YU ; Shijun ZHANG ; Weiming HE ; Aihua ZHANG ; Xiaoliang ZHANG
Chinese Journal of Cardiology 2025;53(5):529-536
Objectives:To summarize the characteristics of Fabry′s disease with cardiac involvement.Methods:This was a single-center, cross-sectional, retrospective study. Patients with Fabry disease who were admitted to Zhongda Hospital Affiliated to Southeast University from January 2022 to March 2023 were included. Clinical data, laboratory results, electrocardiogram, echocardiography and cardiac magnetic resonance findings of enrolled patients were collected. Clinical presentations and imaging features of patients with Fabry′s disease with cardiac involvement were summarized and analyzed.Results:A total of 17 patients from 8 families were included, with 9 males and diagnosis age of (44.35±13.72) years. Cardiac involvement and other organ involvement were presented in all patients and the heart was the most vulnerable organ (17/17). 24 h electrocardiogram showed frequent sinus arrhythmia in 3 patients. Echocardiography showed reduced left ventricular ejection fraction in 1 patient, myocardial hypertrophy in 13 patients, and left ventricular wall thickness ≥13 mm in 10 patients. Mitral regurgitation was observed in 11 patients and tricuspid regurgitation in 12 patients. Two patients underwent two-dimensional speckle tracking echocardiography, both revealing reduced regional longitudinal strain of the left ventricle, primarily in the basal segments. Cardiac magnetic resonance showed reduced left ventricular ejection fraction in 2 patients, myocardial hypertrophy in 16 patients, and left ventricular wall thickness≥13 mm in 14 patients. T1 value was reduced in 16 patients, with late gadolinium enhancement observed in 9 patients and “pseudo-normalization” of T1 values in 1 patient. The most susceptible target organ besides the heart was the kidneys (14/17), followed by the central nervous system (9/17). Additional findings inclucling cutaneous angiokeratoma in 4 patients, peripheral neuropathy with burning pain and hypohidrosis or hyperhidrosis in 6 patients, and corneal vortex opacities in 2 patients.Conclusion:The main manifestations of cardiac involvement in Fabry′s disease are decreased cardiac function, left ventricular hypertrophy and myocardial fibrosis. Advanced imaging techniques such as two-dimensional speckle tracking, T1 Mapping, and late gadolinium enhancement are useful in detecting myocardial pathological changes of Fabry′s disease.
7.Direction and clinical practice of traditional Chinese medicine in the prevention and treatment of cancer
Xinyi MA ; Bowen XU ; Jie LI ; Ying ZHANG ; Luchang CAO ; Yuansha GE ; Guanghui ZHU ; Xiaoyu ZHU ; Jingyuan WU ; Xinmiao WANG
Chinese Journal of Oncology 2025;47(2):121-128
Cancer is a major chronic disease that threatens human health, while traditional Chinese medicine (TCM) is a unique method for cancer prevention and treatment in China. After about 70 years of innovation and development, TCM has made constant progress in areas such as the clinical diagnosis, treatment, evidence-based researches, and mechanism exploration of cancer. It has special advantages in aspects such as reducing toxicity, enhancing treatment efficacy, managing symptoms, accelerating recovery, preventing recurrence and metastasis, and prolonging advanced-stage survival. However, there are still bottlenecks for TCM in cancer care. This paper cuts in the key links between TCM and western medicine in their combined application in cancer prevention and treatment, and take the original TCM theories on cancer as the lead, high-quality evidence-based researches as the drive, and analysis on the dynamic mechanism as the core, to show the advantages and effects of TCM in cancer treatment in an all-round way. It also aims to provide novel strategies for sustainable and innovative development and for formulation of comprehensive schemes that integrate TCM and western medicine for cancer prevention and treatment.
8.Comparison of enrichment and detection methods for hepatitis E virus in beverages represented by cola
Ruiting ZHANG ; Qiuyuan WANG ; Wenjiao YIN ; Jingyuan CAO
Chinese Journal of Experimental and Clinical Virology 2025;39(1):122-127
Objective:To compare enrichment and nucleic acid detection method for hepatitis E virus (HEV) in simulated cola samples.Methods:Cola samples experimentally contaminated with HEV were enriched using positively charged filter membrane-direct lysis (Method 1), tangential flow ultrafiltration membrane-direct lysis (Method 2), and Method 3 and 4 (with the addition of a PCR inhibitor removal step on the basis of Method 1 and 2, respectively), and were assayed by real-time fluorescence quantitative RT-PCR(RT-qPCR), and the recoveries and inhibition rates were compared. Digital RT-PCR(RT-dPCR) and RT-qPCR were applied to detect the recovery of HEV in different medium and low concentrations of experimentally contaminated cola samples; and the inhibition rate and sensitivity of HEV RNA detection in different matrices.Methods 3 was selected for virus enrichment of 8 commercially available cola specimens, RT-qPCR and RT-dPCR for HEV RNA detection.Results:The HEV recoveries of method 3 and 4 (10.44% and 10.16%) were higher than those of method 1 and 2 (4.89% and 0.32%), and the differences were statistically significant ( P<0.05). The inhibition rates of method 3 and 4 were smaller than the inhibition rates of method 1 and 2. The recoveries of HEV in medium concentration artificially contaminated cola samples by RT-qPCR and RT-dPCR were 17.04% and 16.28%, respectively, and for low concentration artificially contaminated cola samples were 6.91% and 4.65%, respectively, and the differences in recoveries between the two assays at the same concentration were not statistically significant ( P=0.260, P=0.107 ); Cola matrix inhibits the detection of both RT-qPCR and RT-dPCR assays. Eight commercially available cola specimens were negative for HEV. Conclusions:Detection of HEV in cola beverages can be done by positively charged filter membrane-direct lysis + inhibitor removal (method 3) or tangential flow ultrafiltration membrane-direct lysis + inhibitor removal (method 4) enrichment, followed by RT-dPCR or RT-qPCR, with a high recovery of virus detection.
9.Bibliometric analysis and reflections on the current status of traditional Chinese medicine systematic reviews and Meta-analysis in the past decade
Jiaying WANG ; Yi ZHAO ; Ru DUAN ; Jingting LIU ; Yun WU ; Jisheng ZHANG ; Xuemei XIANG ; Yifei GU ; Yu TIAN ; Yawen CAO ; Bin LI ; Xianliang WANG ; Jingyuan MAO
Chinese Journal of Pharmacoepidemiology 2025;34(1):57-68
Objective To understand the current status of traditional Chinese medicine(TCM)systematic reviews/Meta-analysis over the past 10 years.Methods Cochrane Database of Systematic Reviews,PubMed,Web of Knowledge,CNKI,SinoMed,WanFang Data,VIP databases,as well as the Cochrane Register and PROSPERO registration platform were searched to collect TCM-related systematic reviews/Meta-analysis published between January 2015 and December 2024.Literature was screened,and standardization of institutions,countries,and journals was performed.Data cleaning was conducted,and trends in publication years,high-frequency diseases,journals,institutions,and highly cited papers were analyzed.Results A total of 11,174 papers were included,involving approximately 56,656 authors from 1,422 institutions across 44 countries,covering 1,300 journals and 1,070 diseases.The top five institutions in terms of publications were Beijing University of Chinese Medicine(954 papers),Guangzhou University of Chinese Medicine(928 papers),China Academy of Chinese Medical Sciences(537 papers),Tianjin University of Chinese Medicine(460 papers),and Chengdu University of Chinese Medicine(393 papers).Foreign institutions with the highest publication volumes were concentrated in South Korea,Iran,and Australia.The most frequently published Chinese journal was Zhongyi Clinical Research with 332 papers,while the most published English journal was Evidence-Based Complementary and Alternative Medicine with 311 papers.There were 282 single-author papers involving 271 authors,and the most cited paper was referenced 323 times,The three most frequently studied diseases were diabetes(267 papers,2.39%),angina pectoris(214 papers,1.92%),and osteoarthritis(210 papers,1.88%).Non-pharmacological interventions such as acupuncture(1,265 papers,11.32%),auricular therapy(101 papers,0.90%),and Tai Chi(98 papers,0.88%)were most frequently reported.In pharmacological interventions,studies on Tripterygium wilfordii tablets(76 papers,0.68%)and Danhong injection(54 papers,0.48%)were more common.Conclusion The systematic reviews/Meta-analysis method is widely used in the field of TCM,and the field continues to grow.Active academic teams,institutions,and journals have emerged.Over the past decade,there has been a considerable body of evidence in Chinese systematic reviews on TCM for chronic diseases such as diabetes,angina pectoris,and osteoarthritis.In English-language studies,non-pharmacological therapies like acupuncture have been more widely reported,and some high-impact studies have emerged.However,challenges remain,such as issues with research transparency and methodological standardization.Future efforts should focus on establishing transparent systems and quality control mechanisms to further enhance the reliability,accuracy,and dissemination of TCM evidence-based research.
10.Characteristics of cardiac lesions in 17 patients with Fabry disease
Junlan YANG ; Zhiyuan WEI ; Bin WANG ; Zuolin LI ; Jingyuan CAO ; Li SUN ; Weiwei YU ; Shijun ZHANG ; Weiming HE ; Aihua ZHANG ; Xiaoliang ZHANG
Chinese Journal of Cardiology 2025;53(5):529-536
Objectives:To summarize the characteristics of Fabry′s disease with cardiac involvement.Methods:This was a single-center, cross-sectional, retrospective study. Patients with Fabry disease who were admitted to Zhongda Hospital Affiliated to Southeast University from January 2022 to March 2023 were included. Clinical data, laboratory results, electrocardiogram, echocardiography and cardiac magnetic resonance findings of enrolled patients were collected. Clinical presentations and imaging features of patients with Fabry′s disease with cardiac involvement were summarized and analyzed.Results:A total of 17 patients from 8 families were included, with 9 males and diagnosis age of (44.35±13.72) years. Cardiac involvement and other organ involvement were presented in all patients and the heart was the most vulnerable organ (17/17). 24 h electrocardiogram showed frequent sinus arrhythmia in 3 patients. Echocardiography showed reduced left ventricular ejection fraction in 1 patient, myocardial hypertrophy in 13 patients, and left ventricular wall thickness ≥13 mm in 10 patients. Mitral regurgitation was observed in 11 patients and tricuspid regurgitation in 12 patients. Two patients underwent two-dimensional speckle tracking echocardiography, both revealing reduced regional longitudinal strain of the left ventricle, primarily in the basal segments. Cardiac magnetic resonance showed reduced left ventricular ejection fraction in 2 patients, myocardial hypertrophy in 16 patients, and left ventricular wall thickness≥13 mm in 14 patients. T1 value was reduced in 16 patients, with late gadolinium enhancement observed in 9 patients and “pseudo-normalization” of T1 values in 1 patient. The most susceptible target organ besides the heart was the kidneys (14/17), followed by the central nervous system (9/17). Additional findings inclucling cutaneous angiokeratoma in 4 patients, peripheral neuropathy with burning pain and hypohidrosis or hyperhidrosis in 6 patients, and corneal vortex opacities in 2 patients.Conclusion:The main manifestations of cardiac involvement in Fabry′s disease are decreased cardiac function, left ventricular hypertrophy and myocardial fibrosis. Advanced imaging techniques such as two-dimensional speckle tracking, T1 Mapping, and late gadolinium enhancement are useful in detecting myocardial pathological changes of Fabry′s disease.


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