1.Exploration of Training System for Visiting Physicians in Department of Rare Diseases
Jiayuan DAI ; Jing XIE ; Jingjing CHAI ; Yueying MAO ; Chunlei LI ; Yaping LIU ; Jin XU ; Min SHEN ; Shuyang ZHANG
JOURNAL OF RARE DISEASES 2026;5(1):112-116
The construction of a training system for visiting physicians in the department of rare diseases in China is an important measure to improve the overall diagnosis and treatment capacity for rare diseases and address the critical challenge of insufficient knowledge and skills among clinicians in practice. This article systematically describes the visiting physician training system established by the Department of Rare Diseases at Peking Union Medical College Hospital. It summarizes the training objectives and positioning, design logic, and learning modules of the system, aiming to provide a reference for the construction of the specialized talent team for rare diseases in China.
2.Current Status of Traditional Chinese Medicine Diagnosis and Treatment of Inflammatory Bowel Disease and the Research on Mechanism
Junxiang LI ; Hong SHEN ; Tangyou MAO ; Lei ZHU ; Jiaqi ZHANG ; Zhibin WANG ; Xudong TANG
Journal of Traditional Chinese Medicine 2026;67(1):103-110
In recent years, traditional Chinese medicine (TCM) has achieved significant progress in the treatment of inflammatory bowel disease (IBD). A comprehensive literature search was conducted covering the period from January 1, 2010, to December 30, 2024, across Chinese databases including China National Knowledge Infrastructure (CNKI), Wanfang Data, VIP China Science and Technology Journal Database, and the Chinese Biomedical Literature Service System, as well as international databases such as PubMed, Web of Science, and Embase. The clinical applications and mechanistic studies of TCM in IBD were systematically reviewed. The current status of TCM research on the etiology and pathogenesis of IBD, innovative clinical practices, and multimodal therapeutic approaches, including Chinese herbal formulas, single herbs or active compounds, acupuncture, herbal retention enema, and acupoint application, were summarized, together with their synergistic effects when combined with western medical treatments. The development and application of Chinese patent medicines for IBD are undergoing a profound transition from efficacy validation to mechanistic exploration. Mechanistic studies on the effects of TCM in IBD mainly focus on regulating gut microbiota homeostasis, repairing the intestinal mucosal barrier, and modulating intestinal immune balance. Furthermore, future research directions for TCM-based IBD management are proposed, including the establishment of TCM diagnostic and treatment models, expanding integrated applications of external and internal TCM therapies, innovating personalized treatment strategies, and advancing drug development. These efforts aim to provide insights for the standardized and precision-oriented development of TCM in the diagnosis and treatment of IBD.
3.Construction and Clinical Validation of a Deep Learning-Based Automatic Measurement Model for Palmar Tilt and Radial Inclination in Distal Radius Fractures
Guoda DAI ; Jianwei WANG ; Mao WU ; Bin KANG ; Yang SHAO ; Hengyan CUI ; Shaoshuo LI ; Tingchen ZHU ; Zhen HUA ; Zhongming SHEN ; Jintao LIU ; Ming ZHOU
Journal of Traditional Chinese Medicine 2026;67(10):1093-1100
ObjectiveTo construct an automatic measurement model for palmar tilt and radial inclination suitable for traditional Chinese medicine (TCM) clinical scenarios, and to validate its accuracy and efficiency in TCM manipulative reduction settings. MethodsData on anteroposterior (AP) and lateral X-rays of distal radius fractures were collected from patients admitted to 18 TCM/ integrated TCM and western medicine hospitals in Jiangsu province between September 1st, 2023, and September 1st, 2024, via the Jiangsu Diagnosis and Treatment Big Data Platform for TCM Dominant Diseases. A medical image segmentation framework based on multi-scale feature fusion and edge-awareness was employed, combined with anatomical knowledge specific to TCM orthopedics, to optimize the feature extraction strategy of an artificial intelligence (AI) model. This framework enabled automatic segmentation of fracture regions and measurement of distal radius palmar tilt and radial inclination. The accuracy of the AI model in measuring radial inclination and volar tilt was validated, and the measurement time and average time gain rate of the AI model were compared to those of manual measurement. ResultsA total of 15,444 AP and lateral X-ray images of distal radius fractures were collected, and were divided into a training set (11,144 images, 5066 AP and 6078 lateral), a validation set (3700 images, 1840 AP and 1860 lateral), and an independent test set (600 images, 300 AP and 300 lateral) after preprocessing. In the measurement of 300 AP X-rays in the independent test set for radial inclination, when the degree error between AI measurement and manual measurement was <3° and <5°, AI measurement accuracy was 83% and 93%, respectively. In 300 lateral X-rays in the test set for palmar tilt, when AI measurements had an error of <3° and <5° compared to manual measurements, corresponding accuracy rate was 78% and 90%, respectively. For 50 X-ray images, AI measurement time was (1.37±0.05) min for radial inclination while manual measurement time was (22.57±2.52) min (P<0.001); in terms of palmar tilt, the AI measurement time was (1.33±0.14) min, shorter than (23.70±2.80) min for manual measurement time (P<0.001). Average time gain rates for manual and AI measurements were 93.93% and 94.39% respectively. ConclusionAn automatic measurement model for palmar tilt and radial inclination in distal radius fractures has been established, enabling more accurate and efficient assessment as well as providing a tool to support the quantitative evaluation of the efficacy of TCM manipulative reduction and large-sample clinical research.
4.Diagnosis and Treatment of Iron Overload Secondary to Aceruloplasminemia
Yueying MAO ; Min SHEN ; Jin XU ; Miao CHEN
Medical Journal of Peking Union Medical College Hospital 2026;17(4):1158-1163
To explore the clinical features, systematic diagnostic process, and iron chelation therapy strategies of secondary iron overload in aceruloplasminemia (ACP). A retrospective analysis was performed on the clinical data of patients diagnosed with aceruloplasminemia in Peking Union Medical College Hospital from December 2018 to September 2025. The clinical manifestations related to iron overload, key diagnostic points, and treatment responses were systematically summarized. A total of four patients were diagnosed with ACP. All of them had middle to late onset of the disease, and all had diabetes. Among them, 3 cases presented with progressive neurological symptoms. All patients showed a characteristic pattern of abnormal iron metabolism: significantly elevated serum ferritin (range: 730-12 091 ng/mL), decreased transferrin saturation (range: 4.9%-23.4%), and significantly reduced or undetectable ceruloplasmin levels. Genetic testing confirmed pathogenic mutations in the CP gene in all patients. For diagnosis, it is necessary to take the clinical "triad"(diabetes mellitus, neurological symptoms, anemia) as clues, combine with characteristic abnormalities in iron metabolism indicators and imaging evidence, and conduct differentiation from other iron overload diseases such as hereditary hemochromatosis. In terms of treatment, all the 4 patients received iron chelation therapy, including deferoxamine, deferiprone, and deferasirox. One of the patients showed a significant decrease in serum ferritin level with improvement in neurological symptoms after treatment. Iron overload secondary to ACP has insidious manifestations, and its clinical diagnosis relies on a high degree of vigilance and systematic iron metabolism evaluation. Establishing a stepwise diagnostic process from clinical screening to genetic testing is crucial. Early initiation and implementation of individualized iron chelation therapy is a core therapeutic measure to effectively manage iron overload and delay the progression of multiple organ damage.
5.Mechanistic study on alleviation of Schistosoma japonicum infection-induced hepatic damages by macrophage efferocytosis
Yuxin ZHANG ; Junyao SHEN ; Weijie XUE ; Chenxu MAO ; Ziling WANG ; Zhigang LEI ; Sha ZHOU ; Chuan SU
Chinese Journal of Schistosomiasis Control 2026;38(3):274-286
Objective To investigate the development, role, and regulatory mechanism of macrophage efferocytosis in the liver of hosts infected with Schistosoma japonicum. Methods The expression of efferocytosis-related gene like efferocytosis receptors, efferocytosis-related bridging molecules,“eat me” signal and “don’t eat me” signal was detected in the livers of patients and mice infected with S. japonicum in the Gene Expression Omnibus (GEO) database. Ten wild-type (WT) male mice (6 ~ 8 weeks old, weighing 20 ~ 25 g) were randomly divided into a Schistosoma japonicum infection (SJ) group and a normal control (NC) group, with 5 mice in each group. The efferocytosis of neutrophils and T cells by liver macrophages was detected in mice from SJ group and NC group using flow cytometry and immunofluorescence assay, respectively. The expression of efferocytosis-related Mer receptor tyrosine kinase (MerTK) and Axl receptor tyrosine kinase (Axl) proteins was determined in mouse liver tissues using Western blotting assay, and the proportion of MerTK+ macrophages and the average fluorescence intensity of macrophage MerTK were detected in mouse livers using flow cytometry. Changes in liver granulomas and fibrosis were observed in mice infected with S. japonicum following injection of efferocytosis inhibitors, and S. japonicum-infected mice without injection of efferocytosis inhibitors served as controls. Bone marrow-derived macrophages (BMDMs) were isolated from macrophage scavenger receptor class A (SR-A) conditional knockout (CKO) and wild-type (WT) mice, and changes in apoptotic neutrophils were detected in SR-A CKO mouse macrophages in vitro using flow cytometry. Then, BMDMs was divided into the WT mono-culture group, the WT and apoptotic neutrophils co-culture group, the SR-A CKO mono-culture group, and the SR-A CKO and neutrophils co-culture group, and the expression of MerTK and Axl was quantified in vitro using Western blotting and real-time quantitative PCR (RT-qPCR) assays during neutrophil efferocytosis. The efferocytosis of neutrophils and T cells by mouse liver macrophages was detected in the SR-A CKO SJ group and the WT SJ group using flow cytometry and immunofluorescence assay, and the expression of MerTK and Axl proteins was determined in mouse liver tissues in both groups using Western blotting. In addition, the proportion of MerTK+ macrophages and the average fluorescence intensity of macrophage MerTK were detected in mouse livers in both groups using flow cytometry. Results Data from the GEO database showed that the expression of some efferocytosis receptors and efferocytosis-related bridging molecules, and “eat me” and “don’t eat me” signals all appeared a tendency towards a rise in livers of patients and mice in the SJ group relative to the NC group, suggesting that S. japonicum infection-induced liver diseases may be associated with efferocytosis. Flow cytometry detected higher proportions of Ly6G+ cells [(13.13 ± 0.45)% vs. (6.48 ± 0.25)%; t = 22.30, P < 0.05] and CD3+ cells [(7.60 ± 0.33)% vs. (3.30 ± 0.42)%; t = 13.98, P < 0.05] in mouse liver macrophages in the SJ group than in the NJ group, and the expression of MerTK protein [(2.30 ± 0.14) vs. (1.14 ± 0.46); t = 4.19, P < 0.05], the mean fluorescence intensity of macrophages [(160.67 ± 15.28) vs. (94.50 ± 19.61); t = 4.81, P < 0.05], and the proportion of MerTK+ macrophages [(20.78 ± 4.17)% vs. (6.85 ± 0.39)%; t = 6.57, P < 0.05] were significantly higher in mouse liver tissues in the SJ group than in the NC group. The Axl expression was lower in mouse liver tissues in the SJ group than in the NC group [(1.25 ± 0.08) vs. (1.93 ± 0.37); t = 2.79, P < 0.05], and the area of granulomas around single eggs [(9.18 ± 1.81) × 104μm2 vs. (5.24 ± 1.35) × 104 μm2; t = 3.03, P < 0.05] and proportion of collagen fibers [(25.27 ± 3.99)% vs. (15.14 ± 4.02)%; t = 3.10, P < 0.05] were significantly greater in livers of S. japonicum-infected mice with injection of efferocytosis inhibitors than in mice without injection of efferocytosis inhibitors. The in vitro efferocytosis efficiency of BMDMs [(32.83 ± 3.17)% vs. (45.43 ± 2.34)%; t = 5.54, P < 0.05], and the proportions of Ly6G+ [(9.37 ± 0.48)% vs. (13.13 ± 0.72)%; t = 7.50, P < 0.05] and CD3+ cells [(4.95 ± 0.17)% vs. (7.64 ± 0.50)%; t = 8.87, P < 0.05] in liver macrophages post-infection with S. japonicum were significantly lower in SR-A CKO mice than in WT mice, and the expression of MerTK protein [(0.65 ± 0.25) vs. (1.96 ± 0.69); t = 3.10, P < 0.05], the average fluorescence intensity of macrophages [(138.33 ± 8.39) vs. (160.67 ± 15.28); t = 3.03, P < 0.05] and the proportion of MerTK+ macrophages [(13.17 ± 5.01)% vs. (22.63 ± 2.06)%; t = 3.56, P < 0.05] were significantly lower in mouse liver tissues in the SR-A CKO SJ group than in the WT group. Western blotting detected no significant difference in the Axl protein expression in mouse liver tissues between the SR-A CKO SJ group and the WT SJ group [(0.48 ± 0.07) vs. (0.68 ± 0.30); t = 1.09, P > 0.05]. There were significant differences in the relative MerTK mRNA and protein expression during efferocytosis of BMDMs among the WT monoculture group, the WT and apoptotic neutrophils co-culture group, the SR-A CKO mono-culture group, and the SR-A CKO and neutrophils co-culture group (F = 9.41 and 40.68, both P values < 0.05). In addition, there was a significant difference in the relative Axl mRNA expression during efferocytosis of BMDMs among the four groups (F = 13.62, P < 0.05); however, no significant difference was seen in the relative Axl protein expression (F = 1.27, P > 0.05). Conclusions Efferocytosis of liver macrophages is seen in mice infected with S. japonicum and inhibits liver fibrosis. SR-A may up-regulate the efficiency of macrophage efferocytosis through regulating the expression of efferocytosis receptors.
6.Chemical constituents from the bark of Toona sinensis and their anti-inflammatory activity
Wei WU ; Shou-mao SHEN ; Yan-ni WANG ; Xia ZHANG ; Jin-yu LI ; Wei-dong PAN
Chinese Traditional Patent Medicine 2025;47(9):2950-2956
AIM To study the chemical constituents from the bark of Toona sinensis(A.Juss.)Roem and their anti-inflammatory activity.METHODS Silica gel,RP-18 reverse phase silica gel and HPLC were used for isolation and purification,then the structures of obtained compounds were identified by physicochemical properties and spectral data.Their anti-inflammatory activity were evaluated by RAW264.7 model.RESULTS Sixteen compounds were isolated and identified as(9Z)-18-hydroxyo-ctadec-9-en-4,6-diyn-3-one(1),toonapolyyne C(2),(9S,10E,16R)-octadec-10-ene-12,14-diyne-1,9,16-triol(3),(9S,10E,16R)-9,16-dihydroxyoctadec-10-ene-12,14-diy-n-1-yl acetate(4),toonapolyyne A(5),toonasindiyne B(6),scopoletin(7),sco-parone(8),3-O-acetyl(-)-epicatechin(9),p-ethoxyacetanilide(10),kulonic acid(11),β-sitosterol-3-O-β-D-glucopyranoside(12),vanillic acid(13),cleomiscosin A(14),(-)-isolariciresinol(15),resveratrol(16).The IC50 values of compounds 3-4,6,11-13 for NO were 6.90,10.49,20.03,9.49,18.34,24.36 μmol/L,respectively.CONCLUSION Compound 1 is a new polyacetylene,8-16 are isolated from T.sinensis for the first time.Compounds 3-4,6,11-13 have good anti-inflammatory activity.
7.Study on the distribution of FMR1 CGG repeat numbers among 16 610 women of childbearing age in China
Yahui SHEN ; Wei HOU ; Xiaolin FU ; Manli ZHANG ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Rui XIAO ; Yanping LU
Chinese Journal of Reproduction and Contraception 2025;45(4):398-402
Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.
8.Efficacy and safety of probiotics for irritable bowel syndrome : a systematic review
Xiaoyang ZHAO ; Xinyue HU ; Aoxing ZHAO ; Xiyi ZHAO ; Zhiyi MAO ; Chang LU ; Yuchen LI ; Xi SHEN
Chinese Journal of Clinical Nutrition 2025;33(1):72-80
Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder and its symptoms are subject to the composition of the gut microbiota. However, it is not yet clear how probiotics relieve IBS, and there is no well-acknowledged standards concerning the clinical application of probiotics. This systematic review was conducted on the literature published from January 2020 to December 2023 and included 12 randomized controlled trials on probiotics in the treatment of IBS. Compared with placebo, the probiotic preparations improved the overall efficacy in IBS patients and was also well tolerated, suggesting the potential of probiotics in IBS management. Nevertheless, different probiotic strains, dosages, combinations, and dosing schedules may affect the outcomes. In the future, large-scale, multi-center, long-term follow-up studies are still needed to clarify the effective strains and methods of use and to promote the use of probiotics in the treatment of IBS.
9.Exploring the Prevalence of Endometriosis Based on the Theory of Five Circuits and Six Qi
Luyao SHEN ; Nan LUO ; Yalong MAO ; Guangli XU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(10):2393-2399
Objective To investigate the relationship between the five-circuit and six-qi characteristics of birth dates and the prevalence of endometriosis(EMs).Methods Clinical data from 333 EMs patients treated at the Department of Reproductive Medicine,The First Affiliated Hospital of Henan University of Chinese Medicine between March 2022 and March 2025 were collected.Statistical analysis was performed on parameters of the five circuits and six qi of patients' birth dates.Results No statistically significant differences were found in the distribution of heavenly stems,dominant circuits,guest circuits,dominant qi,guest qi,joining of guest qi with dominant qi,or Sitian-Zaiquan among the 333 EMs patients(all P>0.05).However,significant differences were observed in the distribution of earthly branches,yearly circuits,and circuit-qi combinations(P<0.05 or P<0.01).Specifically:(1)The most frequent earthly branch was the"Wei"year(12.3%,41/333);(2)The most common annual circuit was"deficient water circuit"(14.7%,49/333);(3)The predominant circuit-qi combination was"Tong Sui Hui"(23.1%,77/333).Conclusion The development of EMs is associated with specific five circuits and six qi characteristics at birth:(1)Earthly branch of"Wei"year;(2)Annual circuit of"deficient water circuit";(3)Circuit-qi combination of"Tong Sui Hui".These patterns suggest that congenital endowmentl deficiencies in the spleen and kidney systems may predispose individuals to EMs.
10.Correlation between serum 25-hydroxyvitamin D levels and 24-h urinary calcium excretion and hypercalciuria in Chinese adults
Li SHEN ; Hao ZHANG ; Qi LU ; Shanshan LI ; Chao GAO ; Yazhao MEI ; Hua YUE ; Xiangtian YU ; Qi YAO ; Yanan HUO ; Yuhong ZENG ; Yin JIANG ; Zhongjian XIE ; Aijun CHAO ; Xiaolan JIN ; Li MAO ; Zhenlin ZHANG
Chinese Journal of Internal Medicine 2025;64(4):318-324
Objective:To investigate the association between serum 25-hydroxyvitamin D [25(OH)D] levels and 24-h urinary calcium excretion (24-h UCaE) and hypercalciuria in Chinese adults.Methods:This cross-sectional study was conducted from March 2022 to March 2023 in nine cities in China and included 1 239 residents. Demographic characteristics were collected through questionnaires and physical examinations, fasting blood samples were assessed for bone metabolism indicators, and 24-h urine samples were used to determine the 24-h UCaE. Multiple linear regression analysis was used to explore the relationship between serum 25(OH)D and 24-h UCaE and bone metabolism indexes. The relationship between serum 25(OH)D and hypercalciuria was analyzed using a multiple logistic regression model combined with restricted cubic spline modeling.Results:The mean participant age was (47.9±18.1) years, of which 453 (36.6%) were male. The percentages of vitamin D sufficiency, insufficiency, and deficiency were 7.6% (94/1 239), 29.0% (359/1 239), and 63.4% (786/1 239), respectively. The multiple linear regression model showed that after adjusting for the covariates the 24-h UCaE gradually increased with higher levels of 25(OH)D ( P overall <0.001, P nonlinear <0.001). The logistic regression analysis revealed that compared with the vitamin D deficient group, the OR for the prevalence of hypercalciuria in the vitamin D sufficient and vitamin D insufficient groups were 3.290 (95% CI 1.745 to 6.202) and 3.742 (95% CI 2.458 to 5.697), respectively. The results of the restricted cubic spline modeling showed a positive nonlinear relationship between 25(OH)D and the prevalence of hypercalciuria ( P overall <0.001, P nonlinear <0.001). The prevalence of hypercalciuria increased when 25(OH)D was >17.00 μg/L and peaked at 26.71 μg/L, after which there was a decreasing trend in the prevalence of hypercalciuria with increasing 25(OH)D. Conclusion:Associations between serum 25(OH)D levels and urinary calcium excretion and the prevalence of hypercalciuria were observed in the Chinese adult population.

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