1.Relationship between gender and efficacy of immune checkpoint inhibitors for esophageal cancer patients: A systematic review and meta-analysis
Jinlong ZHANG ; Haochi LI ; Zhaohao LIN ; Wei CAO ; Weirun MIN ; Xindong LUO ; Xinchun DONG ; Yunjiu GOU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(04):639-645
Objective To systematically evaluate the efficacy of immune checkpoint inhibitors (ICIs) in treating esophageal cancer patients of different genders. Methods Computer searches were conducted on PubMed, Cochrane Library, and Embase databases to collect randomized controlled trial (RCT) on ICIs treatment for esophageal cancer patients from the establishment of the databases to January 25, 2024. Two researchers independently screened the literature and extracted data according to the inclusion and exclusion criteria. The outcome indicators were overall survival (OS) and progression-free survival (PFS), and RevMan 5.4 software was used for meta-analysis. The modified Jadad scoring scale was used to evaluate the quality of the included literature. Results A total of 10 RCT involving 5364 esophageal cancer patients were included in this study, with 2684 patients in the trial group and 2680 patients in the control group. The Jadad scores of the included literature were all ≥6 points, indicating high-quality RCT. Meta-analysis results showed that female esophageal cancer patients receiving ICIs treatment [HR=0.72, 95%CI (0.59, 0.87), P<0.001] had a more significant median OS prolongation than male patients [HR=0.73, 95%CI (0.68, 0.78), P<0.001]; while male patients [HR=0.57, 95%CI (0.52, 0.64), P<0.001] had a more significant PFS prolongation than female patients [HR=0.72, 95%CI (0.55, 0.94), P=0.01]. Female patients treated with ICIs alone [HR=0.66, 95%CI (0.50, 0.87), P=0.003] had a more significant median OS prolongation than male patients [HR=0.79, 95%CI (0.72, 0.87), P<0.001]; while male patients receiving ICIs combined with chemotherapy [HR=0.67, 95%CI (0.61, 0.74), P<0.001] had a more significant median OS prolongation than female patients [HR=0.77, 95%CI (0.59, 1.01), P=0.06]. Conclusion Female patients receiving ICIs have a slight advantage in OS compared to male patients, while male patients have an advantage in PFS. Male patients receiving ICIs combined with chemotherapy have better survival benefits than female patients, while female patients using ICIs monotherapy have better survival benefits than male patients.
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.Treatment Principles and Paradigm of Diabetic Microvascular Complications Responding Specifically to Traditional Chinese Medicine
Anzhu WANG ; Xing HANG ; Lili ZHANG ; Xiaorong ZHU ; Dantao PENG ; Ying FAN ; Min ZHANG ; Wenliang LYU ; Guoliang ZHANG ; Xiai WU ; Jia MI ; Jiaxing TIAN ; Wei ZHANG ; Han WANG ; Yuan XU ; .LI PINGPING ; Zhenyu WANG ; Ying ZHANG ; Dongmei SUN ; Yi HE ; Mei MO ; Xiaoxiao ZHANG ; Linhua ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(5):272-279
To explore the advantages of traditional Chinese medicine (TCM) and integrative TCM-Western medicine approaches in the treatment of diabetic microvascular complications (DMC), refine key pathophysiological insights and treatment principles, and promote academic innovation and strategic research planning in the prevention and treatment of DMC. The 38th session of the Expert Salon on Diseases Responding Specifically to Traditional Chinese Medicine, hosted by the China Association of Chinese Medicine, was held in Beijing, 2024. Experts in TCM, Western medicine, and interdisciplinary fields convened to conduct a systematic discussion on the pathogenesis, diagnostic and treatment challenges, and mechanism research related to DMC, ultimately forming a consensus on key directions. Four major research recommendations were proposed. The first is addressing clinical bottlenecks in the prevention and control of DMC by optimizing TCM-based evidence evaluation systems. The second is refining TCM core pathogenesis across DMC stages and establishing corresponding "disease-pattern-time" framework. The third is innovating mechanism research strategies to facilitate a shift from holistic regulation to targeted intervention in TCM. The fourth is advancing interdisciplinary collaboration to enhance the role of TCM in new drug development, research prioritization, and guideline formulation. TCM and integrative approaches offer distinct advantages in managing DMC. With a focus on the diseases responding specifically to TCM, strengthening evidence-based support and mechanism interpretation and promoting the integration of clinical care and research innovation will provide strong momentum for the modernization of TCM and the advancement of national health strategies.
10.Shenqi Yiliu Prescription Reverses Cisplatin Resistance in Ovarian Cancer Cells by Regulating PI3K/Akt/mTOR Signaling Pathway-mediated Glycolysis
Lan MA ; Yuping YANG ; Min BAI ; Yongqiang DUAN ; Zhining ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(4):60-69
ObjectiveTo investigate the mechanism by which Shenqi Yiliu prescription reverses cisplatin resistance in ovarian cancer cells by regulating the phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt)/mammalian target of rapamycin (mTOR) signaling pathway-mediated glycolysis. MethodsThe human ovarian cancer A2780 cell line was intervened with progressively increasing doses of cisplatin (1 g·L-1) to establish the cisplatin-resistant cell line A2780cisR, and the cell sensitivity to cisplatin was examined by the cell counting kit-8 (CCK-8) assay. High, medium, and low (39.9, 19.95, 9.98 g·kg-1) doses of Shenqi Yiliu prescription-containing sera were used to treat A2780cisR cells for 48 h. Glucose consumption and lactate production were measured by the cuvette assay. Enzyme-linked immunosorbent assay (ELISA) was employed to determine the activities of glucose transporter (GLUT), phosphofructokinase (PFK), and pyruvate kinase (PK). Terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) staining was used to detect apoptosis. Western blot was employed to quantify the protein levels of phosphorylated (p)-PI3K, p-Akt, p-mTOR, hexokinase 2 (HK2), pyruvate kinase M2 (PKM2), B-cell lymphoblastoma-2 (Bcl-2), Bcl-2-associated X-protein (Bax), and B-lymphoblastoma-2 gene-related promoter (Bad). Real-time PCR was conducted to determine the mRNA levels of HK2, PKM2, Bax, Bcl-2, and Bad. ResultsThe median inhibitory concentration (IC50) of cisplatin on A2780cisR cells was nearly 3 times that on A2780P cells. Compared with A2780P cells, A2780cisR cells showed increased glucose consumption, lactate production, GLUT, PFK, and PK activities, and mRNA and protein levels of p-PI3K, Akt, p-mTOR, HK2, PKM2, Bax (P<0.05), and decreased apoptosis rate and Bcl-2 expression (P<0.05). Compared with A2780cisR cells, medium- and high-dose Shenqi Yiliu prescription reduced the glucose consumption, lactate production, GLUT, PFK, and PK activities, and mRNA and protein levels of p-PI3K, Akt, p-mTOR, HK2, PKM2, Bax, and Bad (P<0.05), while increasing the apoptosis rate and Bcl-2 expression (P<0.05). ConclusionShenqi Yiliu prescription can inhibit glycolysis mediated by the PI3K/Akt/mTOR pathway to promote apoptosis, thereby reversing cisplatin resistance in ovarian cancer cells.

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