OBJECTIVE To analyze the current status and challenges in importing rare disease drugs in China， providing references for optimizing the import process and improving relevant policies. METHODS Questionnaires and interviews were conducted with stakeholders involved in rare disease drug importation， including government departments， multinational pharmaceutical enterprises， healthcare institutions， and patient organizations. This explored the current situation and challenges encountered by each party. Expert opinions were synthesized to propose improvement suggestions. RESULTS A questionnaire survey of representatives from 25 multinational pharmaceutical companies in the rare disease field revealed that these companies had a strong willingness to import rare disease drugs， with 58.33% of them practicing diverse import models. However， significant challenges hindered this process， including unclear regulations （54.17%）， complex approval procedures （45.83%）， and excessively long approval cycles （41.67%）， negatively impacting their motivation. Meanwhile， interviews with 13 experts from government departments， healthcare institutions， pharmaceutical enterprises， and patient organizations identified deficiencies in policy design， approval processes， sampling inspection costs， and communication efficiency with regulators. Additionally， the drug import model in special medical zones also required improvement. CONCLUSIONS The importation of rare disease drugs in China faces challenges such as incomplete policies， inflexible regulatory mechanisms， and insufficient communication channels. It is recommended to enhance the rare disease definition criteria， optimize import incentive policies， and refine regulatory models， so as to further optimize the import process of rare disease drugs and improve relevant policies.

Objectives:To compare the efficacy of unilateral biportal endoscopy(UBE)versus percutaneous endoscopy(PE)for treating cervical spondylotic radiculopathy(CSR)using meta-analysis.Methods:A compre-hensive search was conducted in PubMed,Embase,Cochrane Library,Web of Science,China National Knowl-edge Infrastructure(CNKI),Wanfang Database,and China Biomedical Literature Database for studies published since their inceptions up to June 2025 that reported clinical outcomes and complications of UBE and PE in the treatment of CSR.The Cochrane Risk of Bias tool was used to assess randomized controlled trials,while the Newcastle-Ottawa scale(NOS)was applied to evaluate retrospective studies.Outcome indicators were ex-tracted including visual analogue scale(VAS)scores for neck and upper limb pain,neck disability index(NDI),operative time,intraoperative blood loss,length of hospital stay,incision size,preoperative and postoperative serum creatine kinase(CK)and C-reactive protein(CRP)levels,and postoperative complications.Meta-analysis was performed using Review Manager 5.4 software.Results:A total of 10 literatures were included,all of which were retrospective studies,and six studies were 8 points of NOS scores,three studies were 7 points,and one study was 6 point,indicating moderate to high quality.The total sample comprised 782 patients(UBE:n=388;PE:n=394).Meta-analysis revealed no significant difference in operative time between groups[MD=-6.67,95％CI(-17.47,4.13),P=0.23].Intraoperative blood loss was significantly lower in the PE group[MD=10.86,95％CI(0.64,21.07),P=0.04].No significant difference was observed in postoperative length of hospital stay[MD=0.49,95％CI(-0.00,0.99),P=0.05].Incision size was significantly smaller in the PE group[MD=7.13,95％CI(1.76,12.50),P=0.009].There were no significant intergroup differences in postoperative CK[MD=1.25,95％CI(-5.08,7.75),P=0.70]or CRP levels[MD=-0.03,95％CI(-0.08,0.02),P=0.23].There was no significant difference in neck pain VAS scores at various timepoints between the two groups[MD=-0.07,95％CI(-0.17,0.04),P=0.20].However,the UBE group was significantly lower in upper limb pain VAS scores at 3 months postoperatively[MD=-0.14,95％CI(-0.26,-0.01),P=0.03].No significant differences were found in NDI scores across follow-up periods[MD=-0.24,95％CI(-0.50,0.02),P=0.07]or in complication rates[OR=1.02,95％CI(0.51,2.03),P=0.95].Conclusions:Both UBE and PE operations are effective and safe in the treatment of CSR.The PE technique is associated with less intraoperative blood loss and smaller incisions,while UBE provides superior improvement in upper limb pain at the 3-month follow-up.

Objective To explore the interaction between estrogen-related receptor β(ERRB)gene rs12437118 polymorphism and serum 25-hydroxyvitamin D[25(OH)D]level on tuberculosis multidrug resistance in patients with pulmonary tuberculosis.Methods A total of 104 multidrug resistant tuberculosis(MDR-TB)patients admitted to People's Hospital of Xinjiang Uygur Autonomous Re-gion from January 2018 to December 2023 were selected as the MDR-resistant group,and 102 non-MDR-resistant tuberculosis pa-tients treated of People's Hospital in Xinjiang Uygur Autonomous Region during the same period were selected as the control group.The gene frequency was compared between the two groups.Multivariate Logistic regression was used to analyze the influencing factors of MDR.Multiple linear regression was used to analyze the association of ERRB gene rs12437118 polymorphism with mul-tidrug resistance and 25(OH)D.The interaction between ERRB gene rs12437118 genotype and 25(OH)D on multidrug resistance was analyzed by unconditional Logistic regression model.Results The frequencies of GG(50.96%)and AA(13.46%)genes in MDR group were significantly higher than those in control group(37.25%,9.80%),and the difference was statistically significant(χ2=6.296,P<0.05).There was no significant difference in the frequencies of G and A alleles between the two groups(χ2=1.163,P>0.05).Mul-tivariate Logistic regression analysis showed that age,place of residence,treatment history,smoking history,empty number,regular medication,occupation,rs12437118 G allele and 25(OH)D were all independent influencing factors on multidrug resistance(Wald χ2=0.873～3.152,all P<0.05).Multiple linear regression analysis showed that rs12437118 was significantly associated with MDR risk in allele model,additive model,dominant model and recessive model(all P<0.05).The results of interaction analysis showed that the effects of rs12437118 genotype G allele and 25(OH)D on multidrug resistance were interactive in additive and multiplica-tive models.Conclusion The effects of rs12437118 genotype G allele of ERRB gene and 25(OH)D on multidrug resistance in pulmonary tuberculosis patients interacted in additive model and multiplicative model,and the risk of multidrug resistance is higher when both exist together.

Objectives:To compare the efficacy of unilateral biportal endoscopy(UBE)versus percutaneous endoscopy(PE)for treating cervical spondylotic radiculopathy(CSR)using meta-analysis.Methods:A compre-hensive search was conducted in PubMed,Embase,Cochrane Library,Web of Science,China National Knowl-edge Infrastructure(CNKI),Wanfang Database,and China Biomedical Literature Database for studies published since their inceptions up to June 2025 that reported clinical outcomes and complications of UBE and PE in the treatment of CSR.The Cochrane Risk of Bias tool was used to assess randomized controlled trials,while the Newcastle-Ottawa scale(NOS)was applied to evaluate retrospective studies.Outcome indicators were ex-tracted including visual analogue scale(VAS)scores for neck and upper limb pain,neck disability index(NDI),operative time,intraoperative blood loss,length of hospital stay,incision size,preoperative and postoperative serum creatine kinase(CK)and C-reactive protein(CRP)levels,and postoperative complications.Meta-analysis was performed using Review Manager 5.4 software.Results:A total of 10 literatures were included,all of which were retrospective studies,and six studies were 8 points of NOS scores,three studies were 7 points,and one study was 6 point,indicating moderate to high quality.The total sample comprised 782 patients(UBE:n=388;PE:n=394).Meta-analysis revealed no significant difference in operative time between groups[MD=-6.67,95％CI(-17.47,4.13),P=0.23].Intraoperative blood loss was significantly lower in the PE group[MD=10.86,95％CI(0.64,21.07),P=0.04].No significant difference was observed in postoperative length of hospital stay[MD=0.49,95％CI(-0.00,0.99),P=0.05].Incision size was significantly smaller in the PE group[MD=7.13,95％CI(1.76,12.50),P=0.009].There were no significant intergroup differences in postoperative CK[MD=1.25,95％CI(-5.08,7.75),P=0.70]or CRP levels[MD=-0.03,95％CI(-0.08,0.02),P=0.23].There was no significant difference in neck pain VAS scores at various timepoints between the two groups[MD=-0.07,95％CI(-0.17,0.04),P=0.20].However,the UBE group was significantly lower in upper limb pain VAS scores at 3 months postoperatively[MD=-0.14,95％CI(-0.26,-0.01),P=0.03].No significant differences were found in NDI scores across follow-up periods[MD=-0.24,95％CI(-0.50,0.02),P=0.07]or in complication rates[OR=1.02,95％CI(0.51,2.03),P=0.95].Conclusions:Both UBE and PE operations are effective and safe in the treatment of CSR.The PE technique is associated with less intraoperative blood loss and smaller incisions,while UBE provides superior improvement in upper limb pain at the 3-month follow-up.

Objective To explore the interaction between estrogen-related receptor β(ERRB)gene rs12437118 polymorphism and serum 25-hydroxyvitamin D[25(OH)D]level on tuberculosis multidrug resistance in patients with pulmonary tuberculosis.Methods A total of 104 multidrug resistant tuberculosis(MDR-TB)patients admitted to People's Hospital of Xinjiang Uygur Autonomous Re-gion from January 2018 to December 2023 were selected as the MDR-resistant group,and 102 non-MDR-resistant tuberculosis pa-tients treated of People's Hospital in Xinjiang Uygur Autonomous Region during the same period were selected as the control group.The gene frequency was compared between the two groups.Multivariate Logistic regression was used to analyze the influencing factors of MDR.Multiple linear regression was used to analyze the association of ERRB gene rs12437118 polymorphism with mul-tidrug resistance and 25(OH)D.The interaction between ERRB gene rs12437118 genotype and 25(OH)D on multidrug resistance was analyzed by unconditional Logistic regression model.Results The frequencies of GG(50.96%)and AA(13.46%)genes in MDR group were significantly higher than those in control group(37.25%,9.80%),and the difference was statistically significant(χ2=6.296,P<0.05).There was no significant difference in the frequencies of G and A alleles between the two groups(χ2=1.163,P>0.05).Mul-tivariate Logistic regression analysis showed that age,place of residence,treatment history,smoking history,empty number,regular medication,occupation,rs12437118 G allele and 25(OH)D were all independent influencing factors on multidrug resistance(Wald χ2=0.873～3.152,all P<0.05).Multiple linear regression analysis showed that rs12437118 was significantly associated with MDR risk in allele model,additive model,dominant model and recessive model(all P<0.05).The results of interaction analysis showed that the effects of rs12437118 genotype G allele and 25(OH)D on multidrug resistance were interactive in additive and multiplica-tive models.Conclusion The effects of rs12437118 genotype G allele of ERRB gene and 25(OH)D on multidrug resistance in pulmonary tuberculosis patients interacted in additive model and multiplicative model,and the risk of multidrug resistance is higher when both exist together.

Objective:To establish a prognostic model based on endoplasmic reticulum stress-related genes for evaluating the prognosis of patients with renal cell carcinoma.Methods:This study utilized Non-negative Matrix Factorization to identify molecular subgroups based on endoplasmic reticulum stress-related genes and employed Weighted Correlation Network Analysis to determine co-expressed genes associ-ated with these subgroups.A risk prognostic model was constructed using univariate Cox regression analysis and Lasso regression analysis.Preliminary experimental validations were conducted to elucidate the biological functions of model genes in renal cell carcinoma.Results:Two molecular subgroups with distinct survival prognoses were identified,and an intersection of related genes was used to construct a nov-el endoplasmic reticulum stress-related prognostic model.Patients in the high-risk group exhibited significantly poorer overall survival in both the training and validation cohorts.In vivo experiments demonstrated that PCK1,a model gene,could inhibit the proliferation,migra-tion,and invasion of renal cell carcinoma cells.Conclusions:The risk scoring model developed in this study effectively predicts the survival probability of renal cell carcinoma patients and can serve as an independent prognostic indicator.This model offers a new direction for per-sonalized treatment strategies in renal cell carcinoma patients.

Objective:To establish a prognostic model based on endoplasmic reticulum stress-related genes for evaluating the prognosis of patients with renal cell carcinoma.Methods:This study utilized Non-negative Matrix Factorization to identify molecular subgroups based on endoplasmic reticulum stress-related genes and employed Weighted Correlation Network Analysis to determine co-expressed genes associ-ated with these subgroups.A risk prognostic model was constructed using univariate Cox regression analysis and Lasso regression analysis.Preliminary experimental validations were conducted to elucidate the biological functions of model genes in renal cell carcinoma.Results:Two molecular subgroups with distinct survival prognoses were identified,and an intersection of related genes was used to construct a nov-el endoplasmic reticulum stress-related prognostic model.Patients in the high-risk group exhibited significantly poorer overall survival in both the training and validation cohorts.In vivo experiments demonstrated that PCK1,a model gene,could inhibit the proliferation,migra-tion,and invasion of renal cell carcinoma cells.Conclusions:The risk scoring model developed in this study effectively predicts the survival probability of renal cell carcinoma patients and can serve as an independent prognostic indicator.This model offers a new direction for per-sonalized treatment strategies in renal cell carcinoma patients.

A pair of father-son Crohn′s disease (CD) patients with NOD-like receptors family pyrin domain containing 12 ( NLRP12) gene c.1382 mutation was reported. Through the relevant literature review, we summarize the other CD patients complicated with NLRP12 genetic variation at home and abroad and the mechanism of NLRP12 in inflammatory bowel disease. This study aims to provide reference for the subsequent exploration of individulized treatment.

Objective:To construct a prognostic nomogram based on epithelial-stromal interaction protein 1(EPSTI1)and predict the pro-gnosis of clear cell renal cell carcinoma(ccRCC).Methods:A retrospective analysis was performed from January 2012 to December 2015 at The First Affiliated Hospital of Fujian Medical University,on 221 patients with ccRCC who underwent surgical treatment in our center and 533 patients with ccRCC in The Cancer Genome Atlas(TCGA)database.Immunohistochemical(IHC)staining was performed on adjacent nor-mal and cancerous tissues to analyze the expression level of EPSTI1 and its correlation with clinicopathological characteristics.Kaplan-Meier survival analysis was performed for the overall survival(OS)and disease-free survival(DFS)of patients with high and low EPSTI1 expression levels.Univariate and multivariate Cox proportional hazards models were used to analyze the prognostic factors for OS,and a nomogram model was constructed and verified.Results:The IHC scores and mRNA expression levels of EPSTI1 were significantly higher in ccRCC tissues than in normal tissues(all P<0.001).EPSTI1 was expressed at higher levels in cancer tissues at higher T stages(P=0.036,P=0.006).The EPSTI1 protein expression level was related to the maximum tumor diameter and TNM stage(P=0.002,P=0.032,respectively).The OS and DFS were higher in the low-EPSTI1-expression group than the high-EPSTI1-expression group(P=0.046,P=0.003,P=0.001).Univariate and multivariate Cox regression analyses showed that a high EPSTI1 protein expression level,WHO/ISUP grade,and AJCC/TNM stage were independent risk factors for poor prognosis(P=0.009,P=0.039,P<0.001).The prognostic nomogram model constructed based on the above variables was su-perior to the AJCC/TNM stage in predicting the 5-year OS,and the calibration curve showed that the predicted value of the model was con-sistent with the actual value.Conclusions:The nomographic model based on EPSTI1,AJCC/TNM staging and WHO/ISUP staging has a strong predictive ability for the prognosis of renal clear cell carcinoma.

A pair of father-son Crohn′s disease (CD) patients with NOD-like receptors family pyrin domain containing 12 ( NLRP12) gene c.1382 mutation was reported. Through the relevant literature review, we summarize the other CD patients complicated with NLRP12 genetic variation at home and abroad and the mechanism of NLRP12 in inflammatory bowel disease. This study aims to provide reference for the subsequent exploration of individulized treatment.