1.Analysis of follow-up and prognosis in pediatric rheumatic diseases associated with pulmonary embolism
Tong YUE ; Yuchun YAN ; Min KANG ; Jia ZHU ; Yingjie XU ; Dan ZHANG ; Ming LI ; Min WEN ; Feifei WU ; Jianming LAI
Chinese Journal of Pediatrics 2026;64(1):89-94
Objective:To explore the clinical characteristics, diagnosis and treatment strategies, and prognosis of pulmonary embolism (PE) complicating childhood rheumatic diseases.Methods:A retrospective case series study was performed on the demographic data, laboratory indicators, imaging features, treatment regimens, and follow-up data of 8 children with rheumatic diseases complicated by PE who were admitted to the Department of Rheumatology and Immunology, Capital Center for Children′s Health, Capital Medical University from January 2014 to October 2023.Results:Among the 8 children, there were 4 boys and 4 girls, with an age of 12.0 (7.5, 13.0) years. Among the primary diseases, there were 3 cases of systemic lupus erythematosus, 2 cases of Beh?et′s disease, 2 cases of Takayasu arteritis, and 1 case of antiphospholipid syndrome. All children developed PE during the active phase of the primary disease. PE was detected at the onset of the primary disease in 3 cases, and the median time from the diagnosis of the primary disease to the development of PE was 10.0 (6.0, 25.0) months in the remaining 5 cases. Fever was present in all 8 children, 4 cases were accompanied by chest tightness, dyspnea, etc., and 2 cases only presented with fever. Laboratory examinations revealed the following results: erythrocyte sedimentation rate was 42.0 (17.0, 78.0) mm/1 h, high-sensitivity C-reactive protein was 12.7 (2.6, 78.7) mg/L, white blood cell count was 9.6 (7.2, 18.7)×10 9/L; D-dimer was 2.3 (0.9, 6.2) mg/L; and hemoglobin was (109±16) g/L.Imaging examinations revealed that 5 cases had involvement of the bilateral lower pulmonary arteries, 5 cases had peripheral embolism, and 3 cases had central PE. Complications included 3 cases of deep vein thrombosis, 2 cases of intracranial venous sinus thrombosis, and 1 case of mild pulmonary hypertension.In terms of treatment, 7 cases received anticoagulation with heparin followed by warfarin. Immunomodulation was mainly based on glucocorticoids combined with immunosuppressants, and 4 cases were combined with biological agents. The follow-up time of 4.17 (1.75, 7.17) years, the time for complete absorption of PE was 10.5 (6.0, 18.0) months; all 8 children had no target events, with no recurrence or chronic thromboembolic pulmonary hypertension, and the pulmonary artery remodeling was good. Conclusions:PE complicating childhood rheumatic diseases is closely related to the activity of the primary disease. The clinical manifestations are insidious, with fever as the main symptom. Imaging examination is the key to diagnosis.Early adoption of heparin followed by warfarin anticoagulation and glucocorticoids combined with immunosuppressants and (or) biological agents to control the primary disease can achieve a favorable prognosis.
2.The Development and Future Prospects of the Department of Rare Diseases as an Emerging Discipline
JOURNAL OF RARE DISEASES 2026;5(1):1-6
In the face of the new scientific and technological revolution and the transformation of medical paradigms, the field of rare disease medicine, as a cross-disciplinary emerging discipline integrating basic research, clinical practice, drug development, and policy support, is experiencing unprecedented development opportunities. This paper systematically sorts out the disciplinary connotation, construction paths and practical challenges of the Department of Rare Diseases, and puts forward countermeasures and suggestions for promoting the high-quality development of this emerging discipline in China.
3.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.
4.A Case of Multidisciplinary Treatment for Inflammatory Myofibroblastic Tumor Complicated by ANCA-Associated Vasculitis
Shaoying WANG ; Linyi PENG ; Ke ZHENG ; Zhiwei WANG ; Dachun ZHAO ; Xia ZHANG ; Lin ZHAO ; Wenhui WANG ; Weiqing WANG ; Zhenzhen ZHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):43-51
A 51-year-old male presented with nasal obstruction, followed by progressive hearing loss and blurred vision. Imaging identified space-occupying lesions in the paranasal sinuses, orbits, and paraspinal regions, while laboratory tests confirmed positive anti-proteinase 3 anti-neutrophil cytoplasmic antibody(PR3- ANCA) immunoglobulin G (IgG)and markedly elevated serum IgG4. Despite treatment with corticosteroids, immunosuppressants, and radiotherapy, the patient exhibited steroid dependency with relentless disease progression. Following multidisciplinary consultation, a diagnosis of inflammatory myofibroblastic tumor (IMT) coexisting with ANCA- associated vasculitis (AAV) was favored, though IgG4-related disease remained a critical differential. Ultimately, profound immunosuppression precipitated a severe herpesvirus infection, leading to disseminated intravascular coagulation and multiple organ dysfunction syndrome. This case underscores the rarity and diagnostic complexity of concurrent IMT and AAV, highlights the therapeutic dilemma of balancing primary disease control against fatal opportunistic infections, and emphasizes the critical role of multidisciplinary collaboration in the diagnosis and treatment of complex diseases.
5.A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease
Jing HU ; Ying JIN ; Yan ZHANG ; Ji LI ; Wenhui WANG ; Yue CHI ; Chunxu LI ; Zhenjie ZHANG ; Yaping LIU ; Xiaotian CHU ; Jin XU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):52-59
Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.
6.A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by TSC2 Gene Mutation
Hongli ZHANG ; Jiayuan DAI ; Yan WANG ; Weihong ZHANG ; Wenbin MA ; Hanhui FU ; Chunxia HE ; Jun ZHENG ; Wenda WANG ; Wei ZUO ; Yaping LIU ; Min SHEN
JOURNAL OF RARE DISEASES 2026;5(1):60-67
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the
7.Analysis of Rheumatoid Arthritis and Periodontitis Multimorbidity from Perspective of Abnormal Collateral Theory
Xiaojing GUO ; Jiuli DING ; Hongyuan SUN ; Lei ZHANG ; Min LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):280-287
The multimorbidity of rheumatoid arthritis (RA) and periodontitis (PD) has drawn increasing attention, as both conditions are characterized by chronic inflammation, immune dysregulation, and progressive bone destruction. Modern research confirms that PD is a significant risk factor for RA development, and their coexistence mutually exacerbates disease progression. However, traditional Chinese medicine (TCM) currently lacks a systematic theoretical explanation for this complex multimorbid relationship. This study, based on the TCM theory of abnormal collateral, thoroughly examines the intrinsic connection between RA and PD multimorbidity, proposing "abnormal collateral as the pivot, with accumulated toxins eroding bone" as the core TCM pathogenesis. The research elucidates PD as the "origin of abnormal collateral", where its pathogens act as toxic factors that invade the joints through collaterals, triggering RA via mechanisms such as molecular mimicry. The dynamic pathological progression of RA-PD multimorbidity can be described as follows: the displacement of Ying and Wei at the microscopic level manifests as immune hyperactivation, leading to collateral malnutrition; heat-toxins traversing collaterals induce collateral hyperactivity, resulting in pathological angiogenesis; ultimately, toxin accumulation at the pivotal abnormal collateral site erodes bone, activating the receptor activator of nuclear factor kappa-B ligand (RANKL)-receptor activator of nuclear factor kappa-B (RANK) signaling pathway-driven osteoclast differentiation. This theoretical framework innovatively integrates modern findings in oral microbiology, immune-inflammation, and bone metabolism, offering a holistic and dynamic perspective to understand the complexity of multimorbidity. Given the limited efficacy of current periodontal treatments for RA and the scarcity of reported TCM compound interventions for multimorbidity, the abnormal collateral theory proposes a systematic intervention strategy centered on "governing diseases through collaterals and regulating collaterals with herbs", along with TCM therapeutic principles such as "unblocking, clearing, and nourishing collaterals". Potential herbal treatments for multimorbidity are also highlighted. Future research should focus on refining TCM syndrome patterns in multimorbid patients and leveraging omics technologies for deeper exploration, thereby providing a theoretical foundation and research direction for TCM in addressing complex multimorbid conditions.
8.Analysis of Rheumatoid Arthritis and Periodontitis Multimorbidity from Perspective of Abnormal Collateral Theory
Xiaojing GUO ; Jiuli DING ; Hongyuan SUN ; Lei ZHANG ; Min LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(10):280-287
The multimorbidity of rheumatoid arthritis (RA) and periodontitis (PD) has drawn increasing attention, as both conditions are characterized by chronic inflammation, immune dysregulation, and progressive bone destruction. Modern research confirms that PD is a significant risk factor for RA development, and their coexistence mutually exacerbates disease progression. However, traditional Chinese medicine (TCM) currently lacks a systematic theoretical explanation for this complex multimorbid relationship. This study, based on the TCM theory of abnormal collateral, thoroughly examines the intrinsic connection between RA and PD multimorbidity, proposing "abnormal collateral as the pivot, with accumulated toxins eroding bone" as the core TCM pathogenesis. The research elucidates PD as the "origin of abnormal collateral", where its pathogens act as toxic factors that invade the joints through collaterals, triggering RA via mechanisms such as molecular mimicry. The dynamic pathological progression of RA-PD multimorbidity can be described as follows: the displacement of Ying and Wei at the microscopic level manifests as immune hyperactivation, leading to collateral malnutrition; heat-toxins traversing collaterals induce collateral hyperactivity, resulting in pathological angiogenesis; ultimately, toxin accumulation at the pivotal abnormal collateral site erodes bone, activating the receptor activator of nuclear factor kappa-B ligand (RANKL)-receptor activator of nuclear factor kappa-B (RANK) signaling pathway-driven osteoclast differentiation. This theoretical framework innovatively integrates modern findings in oral microbiology, immune-inflammation, and bone metabolism, offering a holistic and dynamic perspective to understand the complexity of multimorbidity. Given the limited efficacy of current periodontal treatments for RA and the scarcity of reported TCM compound interventions for multimorbidity, the abnormal collateral theory proposes a systematic intervention strategy centered on "governing diseases through collaterals and regulating collaterals with herbs", along with TCM therapeutic principles such as "unblocking, clearing, and nourishing collaterals". Potential herbal treatments for multimorbidity are also highlighted. Future research should focus on refining TCM syndrome patterns in multimorbid patients and leveraging omics technologies for deeper exploration, thereby providing a theoretical foundation and research direction for TCM in addressing complex multimorbid conditions.
9.Factors Affecting Survival of 4892 Patients with Colorectal Cancer in Yunnan Province
Ruiqi CAI ; Zhijian YANG ; Yanyan YANG ; Guoyu MA ; Yuying PANG ; Mengjiao ZHANG ; Lei LUO ; Sile LI ; Min ZHAO
Cancer Research on Prevention and Treatment 2026;53(4):274-280
Objective To analyze survival outcomes and influencing factors among patients with colorectal cancer in Yunnan Province. Methods Clinical data were retrospectively collected from 4 892 patients with colorectal cancer. Survival data were obtained through follow-up. Overall survival (OS) was calculated by using the Kaplan-Meier method. Univariate analysis was performed by applying the log-rank test. Meanwhile, multivariate analysis employed the Cox proportional hazards regression model. Results The 1-, 3-, 5-, and 10-year OS rates for the entire cohort were 91.90%, 74.40%, 64.40%, and 28.70%, respectively. Univariate analysis revealed that age, ethnicity, region, differentiation grade, TNM stage, clinical stage, metastatic status, histological type, and treatment modality (chemotherapy, radiotherapy, and surgery) were associated with patient prognosis (all P<0.05). Multivariate analysis identified age (HR=1.250), region (HR=1.262), differentiation grade (HR=0.761), clinical stage (HR=3.128), and treatment modality (chemotherapy, HR=0.644; radiotherapy, HR=1.605; surgery, HR=0.384) as independent factors affecting survival prognosis in patients with colorectal cancer (all P<0.001). Conclusion Age, region, clinical stage, and treatment modality are independent factors influencing survival among patients with colorectal cancer in Yunnan Province. In clinical practice, these factors should be integrated to develop individualized prevention and treatment strategies, thereby improving patient outcomes.
10.Human umbilical cord-derived mesenchymal stem cells combined with intestinal probiotics promote wound healing in diabetic mice
Qianqian JIN ; Chenyang ZHANG ; Min YE ; Huachao SHEN ; Liang JIN
Journal of China Pharmaceutical University 2026;57(2):266-274
The therapeutic effect of human umbilical cord mesenchymal stem cells (hUCMSCs) combined with intestinal probiotics on the wound healing of diabetic mice and its potential mechanism were explored. A diabetic wound mouse model was established, and 25 male C57BL/6J mice were randomly divided into five groups: blank control group, model group, hUCMSCs treatment group, probiotics treatment group, and hUCMSCs combined with probiotics treatment group. The wound healing conditions were photographed and recorded on days 0, 3, 6, 9, and 12 after modeling, and the differences in wound healing rates among the groups were analyzed. HE and Masson staining were used to observe the histopathological changes and collagen deposition. CD31 immunofluorescence was used to detect angiogenesis. Collagen I immunohistochemistry was used to evaluate the formation of type I collagen. ELISA was used to detect the expression levels of anti-inflammatory factors (Arg1) and pro-inflammatory factors (IL-6, IL-1β, TNF-α) in wounded skin tissue and serum. The results showed that on day 12 after modeling, compared with the other groups, the combined treatment group had the most significant wound contraction and the fastest healing rate. HE and Masson staining showed that the combined treatment group had the fastest epithelialization and the most collagen deposition. Immunofluorescence and immunohistochemistry showed that the combined treatment group had the highest expression levels of CD31 and Collagen I. ELISA results indicated that the combined treatment group had higher expression levels of Arg1 in wound skin tissue and serum than the other groups, while the expression levels of IL-6, IL-1β, and TNF-α were significantly lower. These results suggest that the combined treatment of hUCMSCs and intestinal probiotics can accelerate wound healing in diabetic mice through mechanisms such as promoting angiogenesis, enhancing collagen deposition, and regulating the inflammatory microenvironment. The therapeutic effect was significantly better than that of single treatment, providing a new potential strategy for the clinical treatment of diabetic foot.

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