1.Multidimensional Challenges and Development Strategies in the Construction of Rare Disease Discipline
Li GONG ; Xiaowan MA ; Nansheng CHENG ; Qian HE ; Zhi WAN
JOURNAL OF RARE DISEASES 2026;5(1):19-26
The development of the rare disease discipline is a crucial pathway for enhancing the diagnosis and treatment of rare diseases, cultivating specialized professionals, and fostering technological innovation. Currently, China' rare disease discipline is accelerating its development driven by both policy and demand. However, it still faces multi-dimensional challenges, including an incomplete clinical management mechanism, a shortage of interdisciplinary talents, a weak scientific research system, and limited outreach capacity. To address these challenges, this paper proposes and constructs an integrated development system with clinical diagnosis and treatment as the foundation, talent cultivation as the engine, scientific research as the support, and disciplinary outreach capacity as the extension. Specific strategies include: enhancing clinical management through artificial intelligence-assisted diagnosis systems and multidisciplinary collaboration platforms; strengthening the talent pool through textbooks, curricula, and hierarchical training mechanisms; bolstering research collaboration and translational outcomes by leveraging international data-sharing platforms, national rare disease medical centers, the State Key Laboratory of Complex Severe and Rare Diseases, and the National Key Scientific Infrastructure for Translational Medicine; and expanding grassroots outreach and public awareness through the National Rare Disease Diagnosis and Treatment Collaboration Network, the National Rare Disease Quality Control Center, and integrated media communication channels. In the future, the rare disease discipline should further deepen the integration of medicine and engineering, expand international cooperation, focus on the translational closed loop, improve the regional collaboration network, so as to build a more resilient and dynamic disciplinary ecosystem, and ultimately achieve a comprehensive improvement in the diagnosis and treatment of rare diseases.
2.Pathogenic Mechanisms of Spleen Deficiency-Phlegm Dampness in Obesity and Traditional Chinese Medicine Prevention and Treatment Strategies:from the Perspective of Immune Inflammation
Yumei LI ; Peng XU ; Xiaowan WANG ; Shudong CHEN ; Le YANG ; Lihua HUANG ; Chuang LI ; Qinchi HE ; Xiangxi ZENG ; Juanjuan WANG ; Wei MAO ; Ruimin TIAN
Journal of Traditional Chinese Medicine 2026;67(1):31-37
Based on spleen deficiency-phlegm dampness as the core pathogenesis of obesity, and integrating recent advances in modern medicine regarding the key role of immune inflammation in obesity, this paper proposes a multidimensional pathogenic network of "obesity-spleen deficiency-phlegm dampness-immune imbalance". Various traditional Chinese medicine (TCM) herbs that strengthen the spleen, regulate qi, and resolve phlegm and dampness can treat obesity by improving spleen-stomach transport and transformation, promoting water-damp metabolism, and regulating immune homeostasis. This highlights immune inflammation as an important entry point to elucidate the TCM concepts of "spleen deficiency-phlegm dampness" and the therapeutic principle of "strengthening the spleen and eliminating dampness to treat obesity". By systematically analyzing the intrinsic connection between "spleen deficiency generating dampness, internal accumulation of phlegm dampness" and immune dysregulation in obesity, this paper aims to provide theoretical support for TCM treatment of obesity based on dampness.
3.Expression of BTLA/HVEM axis in hematological and prospects for immune target therapy.
Xiaowan LI ; Li ZHANG ; Zuxi FENG ; Yue CHEN ; Xiaofeng ZHU ; Liansheng ZHANG ; Lijuan LI
Chinese Journal of Cellular and Molecular Immunology 2025;41(1):64-70
B and T lymphocyte attenuator (BTLA) is an inhibitory immune checkpoint, which typically interacts with herpesvirus entry mediator (HVEM) and plays a crucial role in regulating immune balance. BTLA interacts with its ligand HVEM in a cis manner on the surface of the same immune cell to maintain immune tolerance, while trans interactions on the surface of different immune cells mediate immunosuppressive effects. Dysregulation of the BTLA/HVEM axis can impair the functions of immune cells, particularly T lymphocytes, promoting immune escape of tumor cells and ultimately leading to tumor progression. Researchers have found that BTLA and HVEM are abnormally expressed in various tumors and are associated with prognosis, suggesting that they may be potential targets for tumor immunotherapy. This review summarizes the molecular structures of BTLA and HVEM, immunomodulatory mechanisms, recent advances in hematologic malignancies, potential inhibitors of BTLA/HVEM interaction, and their applications in immunotherapy for hematologic malignancies.
Humans
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Receptors, Tumor Necrosis Factor, Member 14/chemistry*
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Receptors, Immunologic/immunology*
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Hematologic Neoplasms/genetics*
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Immunotherapy/methods*
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Animals
4.Immunological Characteristics of Multiple Myeloma Patients with Hypercalcemia
Zilu MENG ; Hanxue ZHENG ; Xiaowan LI
Journal of Medical Research 2025;54(7):36-41
Objective To investigate the characteristics and prognostic significance of immunological indexes in patients with hyper-calcemia in multiple myeloma(MM).Methods A retrospective analysis of 241 newly diagnosed multiple myeloma(NDMM)admitted to the Second Hospital of Lanzhou University from January 2017 to September 2024 was conducted to compare the differences of 19 immuno-logical indicators between hypercalcemia and non-hypercalcemia group and in patients with mild,moderate and severe hypercalcemia,so as to explore the influence and significance of immune mechanism on it.Results Compared with patients without hypercalcemia,patients with MM complicated with hypercalcemia had higher levels of serum IL-1β,IL-2,IL-4,IL-5,IL-6,IL-10,IL-12p70,IFN-α and IFN-γ,lower CD4+T lymphocyte ratio and CD4+/CD8+ratio,and statistically significant differences(P<0.05).Comparative a-nalysis of immune indicators in patients with three different degrees of hypercalcemia revealed that as blood calcium concentration in-creased,the Treg ratio and CD4+/CD8+values gradually decreased,with statistically significant differences(P<0.05).Conclusion The results of this study showed that the immunological indexes of hypercalcemia patients were more abnormal than patients without in MM,suggesting that patients in this group had more disturbed immune microenvironment,which not only provided new indicators for poor prognosis,but also provided reference for future individualized immunotherapy.
5.Construction of evaluation index system of infectious disease prevention and control ability in colleges and universities
Chinese Journal of School Health 2025;46(3):438-442
Objective:
To construct a scientific and perfect evaluation index system of infectious disease prevention and control ability in colleges and universities, so as to provide reference tools for colleges and universities to effectively respond to infectious disease.
Methods:
The initial framework of the evaluation index system of infectious disease prevention and control ability in colleges and universities was constructed by using literature analysis method. Experts familiar with infectious disease prevention and control or school health work were selected to conduct two rounds( n =16,18) of Delphi expert consultation for determining the evaluation index system. Analytical hierarchy process was used to calculate the index weights and combined weights. About 198 prevention and control personnel were conveniently selected from 3 universities in Inner Mongolia Autonomous Region to comprehensively evaluate the evaluation indicators by using fuzzy comprehensive evaluation method.
Results:
After two rounds of Delphi consultation questionnaire, the effective recovery rates were 80.0% and 90.0%, the expert authority levels were 0.89 and 0.86, the expert harmony coefficients for Kendall W were 0.166 and 0.310, and the variation coefficient of each index was <0.25. Finally, the evaluation index system of infectious disease prevention and control ability of colleges and universities included 4 first level indicators, 14 second level indicators and 75 third level indicators. The weights of prevention and monitoring and early warning, organizational system guarantee, emergency management, rehabilitation and summary were 0.176, 0.476, 0.268 and 0.080, respectively. The top 3 weights of the secondary indexes were 0.623 for infectious disease surveillance and early warning, 0.595 for loss assessment and 0.370 for emergency response. The score of fuzzy comprehensive evaluation of the index system of infectious disease prevention and control ability in colleges and universities was 79.148, suggesting a high level.
Conclusion
The established evaluation index system of infectious disease prevention and control ability in colleges and universities is scientific and reasonable, which is conducive to provide tool reference for the evaluation of infectious disease prevention and control ability in colleges and universities.
6.Study on the latent classes of post-stroke depression in patients with acute stroke and nursing insights
Xuan SU ; Qiaomei CHENG ; Xiaowan LI ; Kexin WANG ; Peixi WANG ; Mengwei XIAO ; Yu WANG ; Nannan LI ; Danying XIE
Chinese Journal of Nursing 2025;60(7):785-791
Objective To explore potential categories of post-stroke depression in acute-phase stroke patients and its correlation with the degree of neurological deficits,and to provide references for healthcare professionals in developing targeted interventions.Methods Using convenience sampling,patients with acute stroke who were hospitalized in neurological ward of 2 tertiary general hospitals in Henan Province from January to April 2024 were selected as the survey participants.The investigation was conducted using the General Information Questionnaire,the National Institute of Health Stroke Scale,and the Patient Health Questionnaire-9.The correlation between potential categories of post-stroke depression and the degree of neurological deficit was analysed using unordered multiclassified logistic regression.Results Post-stroke depression score was 10.22±3.61 in 193 acute-phase stroke patients,and post-stroke depression could be categorized into 3 potential categories,namely"low depressive symptoms"(44.6%),"melancholic depression"(15.0%),and"atypical depression"(40.4%).There was a significant difference in the degree of neurological deficits(H=38.074,P<0.001).Compared with severe neurological deficits,patients with mild deficits were more likely to be categorized as"melancholic depression"(OR=0.016,P=0.001)and"atypical depression"(OR=0.040,P<0.001),and patients with moderate deficits were more likely to be classified as"atypical depression"(OR=0.085,P=0.001).Conclusion Post-stroke depression in acute-phase stroke patients has obvious categorization characteristics,and it is recommended that healthcare professionals should pay more attention to patients with different degrees of neurological deficits and adopt targeted interventions according to the different categories of post-stroke depression in order to alleviate their depressive symptoms.
7.Study on the latent classes of post-stroke depression in patients with acute stroke and nursing insights
Xuan SU ; Qiaomei CHENG ; Xiaowan LI ; Kexin WANG ; Peixi WANG ; Mengwei XIAO ; Yu WANG ; Nannan LI ; Danying XIE
Chinese Journal of Nursing 2025;60(7):785-791
Objective To explore potential categories of post-stroke depression in acute-phase stroke patients and its correlation with the degree of neurological deficits,and to provide references for healthcare professionals in developing targeted interventions.Methods Using convenience sampling,patients with acute stroke who were hospitalized in neurological ward of 2 tertiary general hospitals in Henan Province from January to April 2024 were selected as the survey participants.The investigation was conducted using the General Information Questionnaire,the National Institute of Health Stroke Scale,and the Patient Health Questionnaire-9.The correlation between potential categories of post-stroke depression and the degree of neurological deficit was analysed using unordered multiclassified logistic regression.Results Post-stroke depression score was 10.22±3.61 in 193 acute-phase stroke patients,and post-stroke depression could be categorized into 3 potential categories,namely"low depressive symptoms"(44.6%),"melancholic depression"(15.0%),and"atypical depression"(40.4%).There was a significant difference in the degree of neurological deficits(H=38.074,P<0.001).Compared with severe neurological deficits,patients with mild deficits were more likely to be categorized as"melancholic depression"(OR=0.016,P=0.001)and"atypical depression"(OR=0.040,P<0.001),and patients with moderate deficits were more likely to be classified as"atypical depression"(OR=0.085,P=0.001).Conclusion Post-stroke depression in acute-phase stroke patients has obvious categorization characteristics,and it is recommended that healthcare professionals should pay more attention to patients with different degrees of neurological deficits and adopt targeted interventions according to the different categories of post-stroke depression in order to alleviate their depressive symptoms.
8.Immunological Characteristics of Multiple Myeloma Patients with Hypercalcemia
Zilu MENG ; Hanxue ZHENG ; Xiaowan LI
Journal of Medical Research 2025;54(7):36-41
Objective To investigate the characteristics and prognostic significance of immunological indexes in patients with hyper-calcemia in multiple myeloma(MM).Methods A retrospective analysis of 241 newly diagnosed multiple myeloma(NDMM)admitted to the Second Hospital of Lanzhou University from January 2017 to September 2024 was conducted to compare the differences of 19 immuno-logical indicators between hypercalcemia and non-hypercalcemia group and in patients with mild,moderate and severe hypercalcemia,so as to explore the influence and significance of immune mechanism on it.Results Compared with patients without hypercalcemia,patients with MM complicated with hypercalcemia had higher levels of serum IL-1β,IL-2,IL-4,IL-5,IL-6,IL-10,IL-12p70,IFN-α and IFN-γ,lower CD4+T lymphocyte ratio and CD4+/CD8+ratio,and statistically significant differences(P<0.05).Comparative a-nalysis of immune indicators in patients with three different degrees of hypercalcemia revealed that as blood calcium concentration in-creased,the Treg ratio and CD4+/CD8+values gradually decreased,with statistically significant differences(P<0.05).Conclusion The results of this study showed that the immunological indexes of hypercalcemia patients were more abnormal than patients without in MM,suggesting that patients in this group had more disturbed immune microenvironment,which not only provided new indicators for poor prognosis,but also provided reference for future individualized immunotherapy.
9.Advances of acute kidney injury in premature infants
Xiaowan NIU ; Yuxi LI ; Li WANG ; Yang WANG ; Lili WANG
International Journal of Pediatrics 2024;51(4):255-259
Acute kidney injury(AKI)is one of the risk factors leading to death in premature infants.The incidence of AKI showed a upward trend year by year.The pathogenesis may be related to preterm birth with insufficient nephrons,prenatal inflammatory injury and urinary podocyte loss.The occurrence rate of AKI in premature infants increased with the decreasing of gestational age and birth weight.It should be emphasized that AKI in premature infants does not exist independently,but interacts with other organs,such as heart,lung,intestine,brain,and other organs.Moreover,the involvement of these organs may increase the risk of AKI,and so does bloodstream infections.Blood creatinine and urine volume can be used for clinical diagnosis and classification of AKI in premature infants.Glucocorticoids and caffeine can protect kidney in premature infants.Due to the lack of specificity in the treatment of AKI,fluid management and medication are important for the development of AKI.Renal replacement therapy,the common of which are peritoneal dialysis and continuous renal replacement therapy,can be used in severe AKI.
10.Study on risk factors for coma in patients with hypoglycemia
Quanhong LIN ; Yaowei XU ; Yuzhuo LI ; Lebai LIU ; Shifan TANG ; Xiaowan LIN ; Zhaohua XIN
Chinese Journal of Emergency Medicine 2024;33(9):1273-1280
Objective:To investigate the incidence and risk factors of coma in patients with hypoglycemia (≤3.9 mmol/L).Methods:A retrospective study was conducted. Patients aged 20 years and older with blood glucose levels ≤3.9 mmol/L, and measured by emergency physicians from January 2020 to December 2022 were collected. Baseline patient data, clinical values collected on-site, and treatment outcomes were analyzed. The Glasgow Coma Scale (GCS) was used to determine if patients were comatose, with GCS ≤8 classified as the coma group and GCS >8 as the non-coma group. Further analysis was conducted on the resuscitated coma group to identify factors affecting patient recovery. Patients were divided into eight age groups, seven time periods within 24 h, and six blood glucose level groups to calculate the incidence of coma. A multivariate logistic regression model was constructed to analyze independent risk factors for coma in hypoglycemic patients.Results:A total of 754 patients with blood glucose levels ≤3.9 mmol/L were collected, with 425 cases of coma and 329 non-coma cases, resulting in a coma probability of 56.37% (95% CI: 52.82%-59.91%). Patients in the coma group were older ( P<0.001) and had a higher prevalence of diabetes compared to the non-coma group (82.12% vs. 67.78%, P<0.001). The age of all patients was (73.05±15.20) years, with the 61-90 years age groups being the most prone to hypoglycemia and coma. In terms of time distribution, the high-incidence periods for hypoglycemia and coma were 0-6 o’clock, 6-9 o’clock, and 14-18 o’clock. The primary causes of hypoglycemia included reduced energy intake after insulin injection (12.07%), improper use of insulin (6.37%), and reduced energy intake (6.23%), with 71.09% of cases having unknown causes. Additionally, 18.44% of patients used insulin before the onset of hypoglycemia, with a higher proportion in the coma group compared to the non-coma group (22.12% vs. 13.68%, P=0.003). The initial blood glucose level of all patients was (2.13±0.85) mmol/L, with lower levels observed in the coma group compared to the non-coma group ( P<0.001). The probabilities of coma occurrence corresponding to blood glucose levels were: 1.1-1.5 mmol/L (72.97%), 1.6-2.0 mmol/L (68.90%), 2.1-2.5 mmol/L (54.10%), 2.6-3.0 mmol/L (38.20%), 3.1-3.5 mmol/L (37.50%), and 3.6-3.9 mmol/L (19.40%). Multivariate logistic regression analysis indicated that age ( OR=1.021, 95% CI: 1.010-1.033, P<0.001), insulin use before onset ( OR=1.948, 95% CI: 1.142-3.323, P=0.014), and blood glucose concentration ( OR=0.426, 95% CI: 0.347-0.522, P<0.001) were independent predictors of coma in hypoglycemic patients. The investigation revealed that after intravenous injection of 50% glucose solution, 215 of 425 coma patients regained consciousness (50.58%), and the recovery time was (18.43±9.09) min. Patients in the recovery group were younger and had lower initial blood glucose levels compared to the non-recovery group (both P<0.05), while recovery group re-measured blood glucose levels were higher than those in the non-recovery group ( P=0.002). Conclusions:The probability of coma in hypoglycemic patients was high, with insulin use being a common trigger. Proper use of insulin is essential to prevent hypoglycemia and coma.


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