1.Two cases of Non-classic adrenal hyperplasia: Diagnostic strategies and genetic variant analysis.
Qigang ZHANG ; Xia ZHAN ; Qing SHENG ; Mi YU ; Yinbao LU
Chinese Journal of Medical Genetics 2026;43(4):273-280
OBJECTIVE:
To investigate the clinical characteristics, steroid hormone profiles, and genetic variants in two female patients with Non-classic adrenal hyperplasia (NCAH).
METHODS:
Clinical data and samples were collected from two patients who had visited Huaian Maternal and Child Health Care Hospital Affiliated to Medical College of Yangzhou University on September 27, 2022 and June 25, 2023, respectively, with an initial diagnosis of Polycystic ovary syndrome (PCOS) and suspected NCAH. Seven steroid hormones in dried blood spots were analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Single base variants and repeat/deletions in the CYP21A2 gene were analyzed by using a classic congenital adrenal hyperplasia (CAH) gene assay, and 10 related genes were analyzed by third-generation sequencing (TGS) should the variants be unclear. This study has been approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025003).
RESULTS:
Patient 1 was a 14-year-old girl, and patient 2 was a 23-year-old woman with insulin resistance. Both patients had hirsutism, acne, bilateral polycystic ovarian morphology, in addition with significantly elevated serum testosterone by chemiluminescence. The steroid hormone profiles of both patients suggested a significant increase in 17-hydroxyproesterone, normal cortisol and 11-deoxycortisol. Patient 2 additionally showed a significant rise in 21-deoxycortisol. The presentation of both patients was indicative of NCAH, which was also evidenced by their respective medical histories. Sanger sequencing of long fragment PCR amplification combined with multiplex ligation-dependent probe amplification (MLPA) revealed that patient 1 harbored a mild c.92C>T (p.P31L) variant and a severe variant with a large segmental deletion in CYP21A2. Patient 2 was finally confirmed by TGS to carry mild CYP21A2 variants in the 5' untranslated region (5' UTR) promotor region (c.-126C>T, c.-113G>A, c.-110T>C) and a severe c.293-13C/A>G variant. The promotor region variants had resulted in decompression of the long fragment P1X/P2 amplification, leading to homozygous result of Sanger sequencing for c.293-13C/A>G, which in turn halved the amplification signal for the wt-113 SNP probe. In addition, the wtI2G-A probe was enhanced by interference in the MLPA assay.
CONCLUSION
This study demonstrated that NCAH should be excluded when PCOS is accompanied by a significant increase in serum testosterone, that mass spectrometry of steroid hormone profiles containing 17-hydroxyprogesterone is useful for the detection of NCAH, and that TGS is advantageous in confirming the diagnosis of NCAH when compared with conventional genetic testing methods.
Humans
;
Female
;
Adrenal Hyperplasia, Congenital/blood*
;
Adolescent
;
Steroid 21-Hydroxylase/genetics*
;
Young Adult
;
Genetic Variation
;
Adult
2.Preparation and Performance Test of Highly Stable Ammonium Ion Selective Electrode Based on Hydrophobic Solid Contact Layer
Chen-Yu LIU ; Jia-Wen YIN ; Yun-Zhe HAN ; Sheng-Kang LU ; Qing-Hui JIN
Chinese Journal of Analytical Chemistry 2025;53(5):774-784
The stability of ammonium ion selective electrode is an important indicator to ensure accurate monitoring of ammonia nitrogen concentration in drinking water.However,in long-term monitoring process,interfering ions and water molecules in water samples may penetrate into the interior of the ammonium ion selective electrode to form a water layer,which affects the potential response and stability of the electrode.Perfluorooctanoic acid is a low surface energy material,and doping it in polyaniline can reduce surface energy of the composite and improve surface roughness.In this work,five ammonium ion selective electrodes were prepared by doping polyaniline with different concentrations of perfluorooctanoic acid as a solid contact layer,which made the solid contact layer of electrode had hydrophobic properties,thereby improving stability of the ammonium ion selective electrode.The stability of the ion-selective electrode was evaluated by potential drift experiment,and the optimal doping concentration of perfluorooctanoic acid in the sediment solution was determined to be 5 mmol/L.The experiment results showed that the solid contact layer had a water contact angle of 132o under the doping concentration,the potential drift rate was 41.66 μV/h,and potential drift rate in the aqueous layer test was 1.31 mV/h,which were all better than those of the unmodified electrode.The standard deviation of the electrode potential was 1.42 mV,which was obviously superior to that of the unmodified electrode.The characteristics of high stability of the electrode made it suitable for long-term monitoring of ammonia nitrogen content in water samples.
3.Scientific characterization of medicinal amber: evidence from geological and archaeological studies.
Qi LIU ; Qing-Hui LI ; Di-Ying HUANG ; Yan LI ; Pan XIAO ; Ji-Qing BAI ; Hua-Sheng PENG ; Lu-Qi HUANG
China Journal of Chinese Materia Medica 2025;50(11):2905-2914
Amber and subfossil resins are subjects of interdisciplinary research across multiple fields. However, due to their diverse origins and complex compositions, different disciplines vary in their definitions and functional interpretations. In traditional Chinese medicine(TCM), amber has been utilized as a medicinal material since ancient time, with extensive historical documentation. However, its classification, provenance, and nomenclature remain ambiguous, and authentic medicinal amber artifacts are exceedingly rare. This study employed Fourier-transform infrared spectroscopy(FTIR) to characterize amber and subfossil resins from various geological sources and commercially "medicinal amber". Additionally, historical literature and market surveys were analyzed to explore their provenance, composition, and functional attributes. The results indicate that amber and subfossil resins from different sources and with different compositions exhibit distinct fingerprint characteristics in the FTIR spectral range of 1 800-700 cm~(-1). "Medicinal amber" available in the market primarily consists of subfossil or modern resins, significantly differing in composition and structure from geological amber. This study highlights the importance of interdisciplinary research on amber identification and resource management. It is essential to establish a systematic database of amber and subfossil resin characteristics and integrate modern analytical techniques to enhance research on their composition, pharmacological mechanisms, and potential therapeutic effects, thereby promoting the standardized utilization of amber resources and advancing the modernization of TCM.
Amber/history*
;
Archaeology
;
Spectroscopy, Fourier Transform Infrared
;
Medicine, Chinese Traditional
4.Developing a polygenic risk score for pelvic organ prolapse: a combined risk assessment approach in Chinese women.
Xi CHENG ; Lei LI ; Xijuan LIN ; Na CHEN ; Xudong LIU ; Yaqian LI ; Zhaoai LI ; Jian GONG ; Qing LIU ; Yuling WANG ; Juntao WANG ; Zhijun XIA ; Yongxian LU ; Hangmei JIN ; Xiaowei ZHANG ; Luwen WANG ; Juan CHEN ; Guorong FAN ; Shan DENG ; Sen ZHAO ; Lan ZHU
Frontiers of Medicine 2025;19(4):665-674
Pelvic organ prolapse (POP), whose etiology is influenced by genetic and clinical risk factors, considerably impacts women's quality of life. However, the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored. This study constructed the first polygenic risk score (PRS) for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study. We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls. Results showed that the case group exhibited a significantly higher PRS than the control group. Moreover, the odds ratio of the top 10% risk group was 2.6 times higher than that of the bottom 10%. A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths. As far as we know, the integrated prediction model, which combined PRS and clinical risk factors, demonstrated better predictive accuracy than other existing PRS models. This combined risk assessment model serves as a robust tool for POP risk prediction and stratification, thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.
Humans
;
Female
;
Pelvic Organ Prolapse/epidemiology*
;
Middle Aged
;
Risk Assessment/methods*
;
China/epidemiology*
;
Multifactorial Inheritance
;
Aged
;
Risk Factors
;
Genome-Wide Association Study
;
Genetic Predisposition to Disease
;
Case-Control Studies
;
Adult
;
Polymorphism, Single Nucleotide
;
Genetic Risk Score
;
East Asian People
5.International clinical practice guideline on the use of traditional Chinese medicine for functional dyspepsia (2025).
Sheng-Sheng ZHANG ; Lu-Qing ZHAO ; Xiao-Hua HOU ; Zhao-Xiang BIAN ; Jian-Hua ZHENG ; Hai-He TIAN ; Guan-Hu YANG ; Won-Sook HONG ; Yu-Ying HE ; Li LIU ; Hong SHEN ; Yan-Ping LI ; Sheng XIE ; Jin SHU ; Bin-Fang ZENG ; Jun-Xiang LI ; Zhen LIU ; Zheng-Hua XIAO ; Jing-Dong XIAO ; Pei-Yong ZHENG ; Shao-Gang HUANG ; Sheng-Liang CHEN ; Gui-Jun FEI
Journal of Integrative Medicine 2025;23(5):502-518
Functional dyspepsia (FD), characterized by persistent or recurrent dyspeptic symptoms without identifiable organic, systemic or metabolic causes, is an increasingly recognized global health issue. The objective of this guideline is to equip clinicians and nursing professionals with evidence-based strategies for the management and treatment of adult patients with FD using traditional Chinese medicine (TCM). The Guideline Development Group consulted existing TCM consensus documents on FD and convened a panel of 35 clinicians to generate initial clinical queries. To address these queries, a systematic literature search was conducted across PubMed, EMBASE, the Cochrane Library, China National Knowledge Infrastructure (CNKI), VIP Database, China Biology Medicine (SinoMed) Database, Wanfang Database, Traditional Medicine Research Data Expanded (TMRDE), and the Traditional Chinese Medical Literature Analysis and Retrieval System (TCMLARS). The evidence from the literature was critically appraised using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach. The strength of the recommendations was ascertained through a consensus-building process involving TCM and allopathic medicine experts, methodologists, pharmacologists, nursing specialists, and health economists, leveraging their collective expertise and empirical knowledge. The guideline comprises a total of 43 evidence-informed recommendations that span a range of clinical aspects, including the pathogenesis according to TCM, diagnostic approaches, therapeutic interventions, efficacy assessments, and prognostic considerations. Please cite this article as: Zhang SS, Zhao LQ, Hou XH, Bian ZX, Zheng JH, Tian HH, Yang GH, Hong WS, He YY, Liu L, Shen H, Li YP, Xie S, Shu J, Zeng BF, Li JX, Liu Z, Xiao ZH, Xiao JD, Zheng PY, Huang SG, Chen SL, Fei GJ. International clinical practice guideline on the use of traditional Chinese medicine for functional dyspepsia (2025). J Integr Med. 2025; 23(5):502-518.
Dyspepsia/drug therapy*
;
Humans
;
Medicine, Chinese Traditional/methods*
;
Practice Guidelines as Topic
;
Drugs, Chinese Herbal/therapeutic use*
6.Associations between Red Cell Indices and Cerebral Blood Flow Velocity in High Altitude.
Hao Lun SUN ; Tai Ming ZHANG ; Dong Yu FAN ; Hao Xiang WANG ; Lu Ran XU ; Qing DU ; Jun LIANG ; Li ZHU ; Xu WANG ; Li LEI ; Xiao Shu LI ; Wang Sheng JIN
Biomedical and Environmental Sciences 2025;38(10):1314-1319
7.Progress on Wastewater-based Epidemiology in China: Implementation Challenges and Opportunities in Public Health.
Qiu da ZHENG ; Xia Lu LIN ; Ying Sheng HE ; Zhe WANG ; Peng DU ; Xi Qing LI ; Yuan REN ; De Gao WANG ; Lu Hong WEN ; Ze Yang ZHAO ; Jianfa GAO ; Phong K THAI
Biomedical and Environmental Sciences 2025;38(11):1354-1358
Wastewater-based epidemiology has emerged as a transformative surveillance tool for estimating substance consumption and monitoring disease prevalence, particularly during the COVID-19 pandemic. It enables the population-level monitoring of illicit drug use, pathogen prevalence, and environmental pollutant exposure. In this perspective, we summarize the key challenges specific to the Chinese context: (1) Sampling inconsistencies, necessitating standardized 24-hour composite protocols with high-frequency autosamplers (≤ 15 min/event) to improve the representativeness of samples; (2) Biomarker validation, requiring rigorous assessment of excretion profiles and in-sewer stability; (3) Analytical method disparities, demanding inter-laboratory proficiency testing and the development of automated pretreatment instruments; (4) Catchment population dynamics, reducing estimation uncertainties through mobile phone data, flow-based models, or hydrochemical parameters; and (5) Ethical and data management concerns, including privacy risks for small communities, mitigated through data de-identification and tiered reporting platforms. To address these challenges, we propose an integrated framework that features adaptive sampling networks, multi-scale wastewater sample banks, biomarker databases with multidimensional metadata, and intelligent data dashboards. In summary, wastewater-based epidemiology offers unparalleled scalability for equitable health surveillance and can improve the health of the entire population by providing timely and objective information to guide the development of targeted policies.
China/epidemiology*
;
Humans
;
Wastewater/analysis*
;
COVID-19/epidemiology*
;
Public Health
;
Wastewater-Based Epidemiological Monitoring
;
SARS-CoV-2
8.Xiangshao Granules Ameliorate Post-stroke Depression by Inhibiting Activation of Microglia and IDO1 Expression in Hippocampus and Prefrontal Cortex.
Cheng-Gang LI ; Lu-Shan XU ; Liang SUN ; Yu-Hao XU ; Xiang CAO ; Chen-Chen ZHAO ; Sheng-Nan XIA ; Qing-Xiu ZHANG ; Yun XU
Chinese journal of integrative medicine 2025;31(1):28-38
OBJECTIVE:
To investigate the therapeutic effect of Xiangshao Granules (XSG) on post-stroke depression (PSD) and explore the underlying mechanisms.
METHODS:
Forty-three C57BL/6J mice were divided into 3 groups: sham (n=15), PSD+vehicle (n=14), and PSD+XSG (n=14) groups according to a random number table. The PSD models were constructed using chronic unpredictable mild stress (CUMS) after middle cerebral artery occlusion (MCAO). The sham group only experienced the same surgical operation, but without MACO and CUMS stimulation. The XSG group received XSG (60 mg/kg per day) by gavage for 4 weeks. The mice in the sham and vehicle groups were given the same volume of 0.9% saline at the same time. The body weight and behavior tests including open field test, sucrose preference test, tail suspension test, and elevated plus-maze test, were used to validate the PSD mouse model. Real-time fluorescence quantitative polymerase chain reaction (RT-qPCR), enzyme-linked immunosorbent assay (ELISA), and immunofluorescence staining were used to evaluate the anti-inflammatory effects of XSG. The potential molecular mechanisms were explored and verified through network pharmacology analysis, Nissl staining, Western blot, ELISA, and RT-qPCR, respectively.
RESULTS:
The body weight and behavior tests showed that MCAO combined with CUMS successfully established the PSD models. XSG alleviated neuronal damage, reduced the expressions of pro-apoptotic proteins Caspase-3 and B-cell lymphoma-2 (BCL-2)-associated X (BAX), and increased the expression of anti-apoptotic protein BCL-2 in PSD mice (P<0.05 or P<0.01). XSG inhibited microglial activation and the expressions of pro-inflammatory cytokines including tumor necrosis factor-α, interleukin (IL)-1 β, and IL-6 via the toll-like receptor 4/nuclear factor kappa-B signaling pathway in PSD mice (P<0.05 or P<0.01). Furthermore, XSG decreased the expression of indoleamine 2,3-dioxygenase1 (IDO1) and increased the concentration of 5-hydroxytryptamine in PSD mice (P<0.05 or P<0.01).
CONCLUSION
XSG could reverse the anxiety/depressionlike behaviors and reduce the neuronal injury in the hippocampus and prefrontal cortex of PSD mice, which may be a potential therapeutic agent for PSD.
Animals
;
Indoleamine-Pyrrole 2,3,-Dioxygenase/metabolism*
;
Depression/etiology*
;
Drugs, Chinese Herbal/therapeutic use*
;
Hippocampus/metabolism*
;
Male
;
Mice, Inbred C57BL
;
Prefrontal Cortex/pathology*
;
Microglia/metabolism*
;
Stroke/drug therapy*
;
Disease Models, Animal
;
Mice
;
Behavior, Animal/drug effects*
9.Preliminary study on the quantitative assessment model of mitral regurgitation in echocardiography based on fully convolutional networks: automatic identification and measurement of regurgitant radius
Lu ZHONG ; Hongning SONG ; Bo HU ; Qing DENG ; Jinling CHEN ; Qing ZHOU ; Fengxia JIANG ; Sheng CAO
Chinese Journal of Ultrasonography 2025;34(2):98-106
Objective:To develop an artificial intelligence system using fully convolutional neural networks(FCN)to assist echocardiographers in the quantitative assessment of mitral regurgitation(MR)severity.Methods:From August 2021 to June 2024,echocardiographic images of 441 patients with MR were prospectively collected from Renmin Hospital of Wuhan University and the Central Hospital of Wuhan. After screening,a total of 269 patients(4 917 frames)were included in the study. Of these,3 644 frames(128 patients)of apical four-chamber color Doppler MR flow convergence images from Renmin Hospital of Wuhan University were selected as the training/validation set,while images from 121 patients(813 frames)were used as the internal test set. Additionally,images from 20 patients(460 frames)from the Central Hospital of Wuhan were selected as the external test set. The FCN algorithm was employed to capture features and segment the MR color region on the left atrial side,simultaneously outputting the regurgitant radius(r)for the calculation of the effective regurgitant orifice area and regurgitant volume. The severity of MR was then classified according to the 2017 guidelines of the American Society of Echocardiography. The segmentation and classification performance of the model was evaluated,and the measurement results of the AI system was compared with that of both senior and junior physicians.Results:In the internal test set,the accuracy of r identification for cases classified as Grade Ⅰ to Ⅳ was 0.48,0.81,0.86,and 0.87,respectively. In the external test set,the accuracy of r identification for cases classified as Grade Ⅰ to Ⅳ was 0.60,0.77,0.64,and 0.77,respectively. The average accuracy of MR classification in the internal and external test sets was 0.91 and 0.88,respectively.Conclusions:The FCN model is capable of segmenting the left atrial side regurgitant areas in apical four-chamber heart color Doppler images,aiding physicians in obtaining quantitative assessment parameters for MR,and assisting junior physicians in accurately assessing the severity of MR.
10.Impact of Polygonum cuspidatum and polydatin on lipid deposition in adipose tissue of obese mice
Bi-lin XU ; Lu-guang SHENG ; Dan-dan LIU ; Wei-bin LIU ; Tao LEI ; Qing-guang CHEN ; Hao LU
Chinese Traditional Patent Medicine 2025;47(9):2912-2917
AIM To investigate the effects of Polygonum cuspidatum and polydatin on lipid deposition in adipose tissue of high-fat diet-induced obese mice.METHODS Forty male C57BL/6J mice were randomly assigned to either a control group(10 mice)fed standard chow or a diet-induced obesity(DIO)group(30 mice)fed a high-fat diet for 8 weeks.The successful mouse models were randomly assigned to the model group,the polydatin group(250 mg/kg)and the P.cuspidatum group(4.5 g/kg),with 8 mice in each group,to resume their high-fat diet during the following 8 weeks corresponding drug administration by gavage.Weekly body weight measurements were recorded for all mice.Serum TG,TC and LDL levels were quantified post-treatment.Histopathological assessment of adipose tissue was performed using HE staining.The mRNA expressions of AMPK,SREBP-1c and FAS in adipose tissue were analyzed by RT-qPCR.The protein expressions of p-AMPK,SREBP-1c and FAS in adipose tissue was detected by Western blot.RESULTS Compared to the control group,the model group displayed significantly higher body weight,inguinal fat weight and epididymal fat weight(P<0.05);elevated serum TG,TC and LDL levels(P<0.05);markedly enlarged volumes of inguinal and epididymal adipocytes(P<0.01);reduced p-AMPK protein expression in inguinal adipose tissue(P<0.01);and upregulated mRNA and protein expressions of SREBP-1c and FAS(P<0.05,P<0.01).Compared to the model group,both the P.cuspidatum group and polygonin group exhibited significantly reduced body weight and inguinal fat weight(P<0.05);decreased serum TG and TC levels(P<0.05);reduced inguinal adipocyte size(P<0.01);elevated p-AMPK protein expression in inguinal adipose tissue(P<0.01);and downregulated mRNA and protein expressions of SREBP-1c and FAS(P<0.05,P<0.01).CONCLUSION P.cuspidatum and polydatin significantly increases p-AMPK expression while decreasing SREBP-1c and FAS levels in adipose tissue.This regulatory effect likely contributes to reduction of body weight in obese mice through suppression of lipogenesis.

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