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.

OBJECTIVE To observe the etiological characteristics,serum C-reactive protein(CRP),interleukin-10(IL-10),procalcitonin(PCT)and treatment outcomes of the children with pneumonia.METHODS A total of 350 children with pneumonia who were treated in Jinhua People's Hospital from Sep.2021 to Sep.2023 and 30 healthy children matched with age and gender who received physical examination were recruited as the research subjects.The etiological characteristics,serum CRP,IL-6,PCT and treatment outcomes of the children with pneumonia were observed.RESULTS The etiological isolation rate was 74.00％(259/350)among the 350 children,the chil-dren who had viral infection accounted for 39.38％,the children with Mycoplasma pneumoniae(MP)infection 32.82％,the children with bacterial infection 20.08％,the children with mixed infections 7.72％.The viral infec-tion was prevalent in winter and was more common among the children aged between 1 and 3 years old;Myco-plasma pneumoniae infection was more common among the children aged between 3 and 6 years old.The CRP levels of the viral infection group,the bacterial infection group,the M.pneumoniae infcection group and the mixed infection group were(10.53±1.54),(38.11±9.32),(21.07±6.55)and(33.33±8.11)mg/L,respectively,higher than those of the healthy children and the children negative for etiological test.The PCT levels of the viral infection group,the bacterial infection group,the M.pneumoniae infcection group and the mixed infection group were(0.61±0.17),(2.84±0.51),(1.35±0.31)and(2.41±0.46)ng/ml,respectively,higher than those of the healthy children and the children negative for etiological test.The IL-10 levels of the viral infection group,the bacterial infection group,the M.pneumoniae infcection group and the mixed infection group were(23.47±5.12),(26.45±7.15),(25.45±5.03)and(25.29±6.05)pg/ml,respectively,higher than those of the healthy children and the children negative for etiological test(P＜0.05).The levels of CRP and PCT of the bacterial infection group and the mixed infection group were higher than those of the M.pneumoniae infcection group,and the level of above indexes of the M.pneumoniae infcection group were higher than those of the viral infection group(P＜0.05).Among 259 children who were confirmed positive for etiological test,237 had favorable treatment out-comes,and 22 had poor treatment outcomes.The rate of poor treatment outcomes of the children with viral infec-tion was higher than that of the children with M.pneumoniae infcection(x2=5.930,P=0.015);the rate of poor treatment outcomes of the children with mixed infection was higher than that of the children with M.pneumoniae infcection(x2=9.954,P＜0.001).CONCLUSIONS The children with viral infection are dominant among the children with pneumonia,followed by the children with M.pneumoniae infcection.The rate of poor treatment outcomes of the children with viral infection or mixed infection is relatively high,the children with M.pneumoniae infcection generally have favorable treatment outcomes.The children with viral infection have slight increases of peripheral blood CRP and PCT,while the children with bacterial infection and mixed infection have a remarkable rise.

Objective To investigate the effects of transcranial direct current stimulation(tDCS)combined with resistance training on the performance of college students completing pull-ups,and explore the potential mechanisms underlying the effects of training intervention from the perspective of neuromuscular activity control.Methods A total of 25 male college student volunteers were randomly divided into the tDCS combined with resistance training group(experiment group)and resistance training group(control group).Twelve subjects in the control group received a lat pull-down strength training intervention lasting for 8 weeks,with 4 sets of 12 movement repetitions each,3 times per week.Thirteen subjects in the experimental group received a 20-minute tDCS before the lat pull-up resistance training intervention.Lat pull-down isometric maximal voluntary contraction(MVC)force,lat pull-down maximal repetitions under 80％one-repetition maximum(1RM)loading,and conventional pull-up exercise were tested before and after the training intervention.Surface electromyography(sEMG)signals of the main exertion muscles of the upper limb were recorded during the pull-up exercise test.Results After the training intervention,the number of pull-ups completed by the experimental group and control group increased by 1.74 times and 1.42 times,respectively.Subjects in both groups showed significant improvements in their MVC and lat pull-down maximal repetitions under 80％1RM loading.However,there were no statistical differences in these indicators between groups.Activation levels of the agonist muscles brachioradialis,posterior deltoid,and pectoralis major were significantly decreased after the training compared to those before training for both groups.In addition,the coactivation level of the antagonist triceps brachii muscle in the experimental group significantly decreased from 0.50±0.22 to 0.37±0.09 after the training,while there was no significant change in the control group before and after the intervention.Conclusions Eight-week tDCS combined with resistance training and resistance training alone can significantly improve the pull-up performance of college students,which may be related to the fact that both types of training can significantly improve the active muscle contraction capacity.Combined with resistance training,tDCS is more effective in decreasing the coactivation level of triceps brachii during pull-ups and increasing the contraction efficiency of elbow joint muscles.

Objective To explore the effects of drug-coated balloons(DCB)on the patency rate of target lesion vessels,coagulation function and vascular endothelial function in patients with in-stent restenosis(ISR)after percutaneous endovascular angioplasty(PTA)for lower extremity arteriosclerosis obliterans(ASO).Methods A total of 62 patients with ISR and ASO admitted to the hospital were retrospectively enrolled between March 2020 and March 2022.According to different treatment methods,they were divided into DCB group(n=38)and common balloon(SAB)group(n=24).All were followed up for 12 months after surgery.The changes in primary patency rate of target lesion vessel,clinically driven-target lesion revascularization(CD-TLR)rate,late loss of values in the lumen(LLL),ankle-brachial index(ABI),coagulation function indexes[prothrombin time(PT),activated partial thromboplastin time(APTT),fibrinogen(FIB),D-dimer(D-D)]and vascular endothelial function indexes[serum endothelin-1(ET-1),nitric oxide(NO),flow-mediated dilatation(FMD)]were observed,and the occurrence of postoperative complications in the two groups was recorded.Results At 12 months after surgery,primary patency rate of target lesion vessels in DCB group was higher than that in SAB group(86.84％vs 50.00％),CD-TLR rate,LLL and ABI were lower than those in SAB group[13.16％,(1.39±0.52)mm,(0.76±0.12)vs 50.00％,(1.79±0.64)mm,(0.62±0.11);P＜0.05].At24h and 2 weeks after surgery,there was no significant difference in PT,APTT,FIB or D-D between the two groups(P＞0.05).At 24h and 2 weeks after surgery,levels of serum ET-1 in DCB group were lower than those in SAB group[(66.65±7.12)pg/ml,(65.58±6.98)pg/ml vs(71.74±6.92)pg/ml,(68.84±6.51)pg/ml)],while NO levels were higher than those in SAB group[(32.21±4.17)pg/ml,(34.62±3.32)pg/ml vs(28.53±5.23)pg/ml,(31.21±4.19)pg/ml;P＜0.05].At 2 weeks after surgery,FMD in DCB group was higher than that in SAB group[(12.49±5.33)％vs(9.14±4.42)％,P＜0.05].There was no significant difference in the total incidence of complications between the two groups(21.50％vs 12.50％,P＞0.05).Conclusion Compared with SAB,DCB can effectively protect vascular endothelial function and improve the primary patency rate of ISR after PTA in patients with lower extremity ASO.

Objective:To compare the clinical efficacy of catheter-directed thrombolysis (CDT) via the contralateral femoral vein approach (CFVA-CDT) and the calf deep vein approach (CVA-CDT) in the treatment of acute mixed-type lower extremity deep vein thrombosis (DVT).Methods:Patients treated with CFVA-CDT and CVA-CDT for acute mixed-type DVT were retrospectively collected from January 2018 to December 2021, totaling 49 and 32 patients, respectively. The relevant technical indicators, thrombolysis rates in the iliac-femoral vein segment and femoral-popliteal vein segment, clinical efficacy, and the incidence of lower extremity deep vein patency, venous valve insufficiency, and post-thrombotic syndrome (PTS), as well as the severity of chronic venous disease in the affected limb (VCSS score) during a 2-year follow-up period were retrospectively compared between the two venous access CDT groups. The t-test was used for comparing quantitative data, while the chi-square test or Fisher′s exact test was used for categorical data.Results:During CFVA-CDT procedure, 6-8 F vascular sheaths were used, and balloon dilation of 2~6 mm was more frequently employed (65.31%, 32/49) to expand venous stenosis/occlusion segments before successful sheath placement compared to the CVA-CDT group (37.50%, 12/32), and the difference was statistically significant ( P=0.014). In the CVA-CDT group, 31.25% (10/32) of patients had a maximum sheath size of 6 F, while the remainder used 4 or 5 F sheaths. Among them, 34.38% (11/32) of patients required re-puncture of the popliteal or femoral vein for larger sheaths (≥8 F) for thrombus aspiration and subsequent endovascular treatment during or after thrombolysis. The effective thrombolysis rates (≥50%) in the iliac-femoral vein segment were not significantly different between the two groups ( P=0.778). The effective thrombolysis rate of the femoral-popliteal venous segment is related to the presence or absence of popliteal vein opacification on lower extremity venous antegrade venography. There was no significant difference between the groups when the popliteal vein was visualized ( P=1.000). While the popliteal vein was not visualized, the CVA-CDT group (75.0%, 15/20) was significantly better than the CFVA-CDT group (34.38%, 11/32), and the difference was statistically significant ( P=0.004). There was no significant difference in clinical efficacy between the two groups ( P=0.819). During follow-up, the femoral-popliteal vein patency rate in the CVA-CDT group (87.50%, 28/32) was significantly higher than in the CFVA-CDT group (44.90%, 22/49), the difference was statistically significant ( P<0.001). Conclusions:Successful CFVA-CDT requires the assistance of more ancillary devices, while the use of larger sheaths is more limited in CVA-CDT due to the smaller caliber of the calf deep veins. The presence or absence of popliteal vein opacification on lower extremity venous antegrade venography may influence the effective thrombolysis of the femoral-popliteal venous segment thrombus in patients with acute mixed deep vein thrombosis (DVT) treated with CFVA-CDT and CVA-CDT. Compared to CFVA-CDT, CVA-CDT can improve the patency rate of the femoral-popliteal venous segment.

Objective To explore the factors leading to early admission for delivery among low-risk and full-term primiparas from both the perspectives of pregnant women and healthcare professionals,and to formulate targeted interventions for reference in ameliorating early admission trend among these primiparas.Methods Using purposeful sampling,we enrolled 11 medical staff members and 13 pregnant women from the Department of Obstetrics,Obstetrics and Gynecology Hospital,Fudan University for semi-structured in-depth interviews.Content analysis was utilized to organize and analyze the collected data.Results From the perspective of pregnant women,the reasons were categorized into personal and environmental factors.Personal factors included cognition related to delivery and variability in the perception of labor contraction pain.Environmental factors included the difficulty in verifying the authenticity of labor-related information on the internet,the transmission of anxiety among family members,the convenience of obtaining medical resources,the lack of clear medical advice,and limited access to auxiliary equipment resources.From the perspective of healthcare professionals,the reasons were categorized into three aspects:factors related to pregnant women,i.e.,anxiety about delivery and fear of unknown pain during delivery;factors related to medical staff,i.e.,differences in medical practice and the provision of excessive information with insufficient pertinence in education;and objective factors,i.e.,primiparas were incapable of utilizing objective criteria to discern the start of delivery,and the convenience of accessing medical resources.Conclusion Factors leading to early admission for delivery among low-risk and full-term primiparas are personal factors,environmental factors,factors related to medical staff,and objective factors.To standardize the delivery admission timing,enhance prenatal health education,and develop outpatient support system will help assisting pregnant women in choosing an appropriate time for hospital admission.

OBJECTIVE To observe the etiological characteristics,serum C-reactive protein(CRP),interleukin-10(IL-10),procalcitonin(PCT)and treatment outcomes of the children with pneumonia.METHODS A total of 350 children with pneumonia who were treated in Jinhua People's Hospital from Sep.2021 to Sep.2023 and 30 healthy children matched with age and gender who received physical examination were recruited as the research subjects.The etiological characteristics,serum CRP,IL-6,PCT and treatment outcomes of the children with pneumonia were observed.RESULTS The etiological isolation rate was 74.00％(259/350)among the 350 children,the chil-dren who had viral infection accounted for 39.38％,the children with Mycoplasma pneumoniae(MP)infection 32.82％,the children with bacterial infection 20.08％,the children with mixed infections 7.72％.The viral infec-tion was prevalent in winter and was more common among the children aged between 1 and 3 years old;Myco-plasma pneumoniae infection was more common among the children aged between 3 and 6 years old.The CRP levels of the viral infection group,the bacterial infection group,the M.pneumoniae infcection group and the mixed infection group were(10.53±1.54),(38.11±9.32),(21.07±6.55)and(33.33±8.11)mg/L,respectively,higher than those of the healthy children and the children negative for etiological test.The PCT levels of the viral infection group,the bacterial infection group,the M.pneumoniae infcection group and the mixed infection group were(0.61±0.17),(2.84±0.51),(1.35±0.31)and(2.41±0.46)ng/ml,respectively,higher than those of the healthy children and the children negative for etiological test.The IL-10 levels of the viral infection group,the bacterial infection group,the M.pneumoniae infcection group and the mixed infection group were(23.47±5.12),(26.45±7.15),(25.45±5.03)and(25.29±6.05)pg/ml,respectively,higher than those of the healthy children and the children negative for etiological test(P＜0.05).The levels of CRP and PCT of the bacterial infection group and the mixed infection group were higher than those of the M.pneumoniae infcection group,and the level of above indexes of the M.pneumoniae infcection group were higher than those of the viral infection group(P＜0.05).Among 259 children who were confirmed positive for etiological test,237 had favorable treatment out-comes,and 22 had poor treatment outcomes.The rate of poor treatment outcomes of the children with viral infec-tion was higher than that of the children with M.pneumoniae infcection(x2=5.930,P=0.015);the rate of poor treatment outcomes of the children with mixed infection was higher than that of the children with M.pneumoniae infcection(x2=9.954,P＜0.001).CONCLUSIONS The children with viral infection are dominant among the children with pneumonia,followed by the children with M.pneumoniae infcection.The rate of poor treatment outcomes of the children with viral infection or mixed infection is relatively high,the children with M.pneumoniae infcection generally have favorable treatment outcomes.The children with viral infection have slight increases of peripheral blood CRP and PCT,while the children with bacterial infection and mixed infection have a remarkable rise.

Objective To investigate the effects of transcranial direct current stimulation(tDCS)combined with resistance training on the performance of college students completing pull-ups,and explore the potential mechanisms underlying the effects of training intervention from the perspective of neuromuscular activity control.Methods A total of 25 male college student volunteers were randomly divided into the tDCS combined with resistance training group(experiment group)and resistance training group(control group).Twelve subjects in the control group received a lat pull-down strength training intervention lasting for 8 weeks,with 4 sets of 12 movement repetitions each,3 times per week.Thirteen subjects in the experimental group received a 20-minute tDCS before the lat pull-up resistance training intervention.Lat pull-down isometric maximal voluntary contraction(MVC)force,lat pull-down maximal repetitions under 80％one-repetition maximum(1RM)loading,and conventional pull-up exercise were tested before and after the training intervention.Surface electromyography(sEMG)signals of the main exertion muscles of the upper limb were recorded during the pull-up exercise test.Results After the training intervention,the number of pull-ups completed by the experimental group and control group increased by 1.74 times and 1.42 times,respectively.Subjects in both groups showed significant improvements in their MVC and lat pull-down maximal repetitions under 80％1RM loading.However,there were no statistical differences in these indicators between groups.Activation levels of the agonist muscles brachioradialis,posterior deltoid,and pectoralis major were significantly decreased after the training compared to those before training for both groups.In addition,the coactivation level of the antagonist triceps brachii muscle in the experimental group significantly decreased from 0.50±0.22 to 0.37±0.09 after the training,while there was no significant change in the control group before and after the intervention.Conclusions Eight-week tDCS combined with resistance training and resistance training alone can significantly improve the pull-up performance of college students,which may be related to the fact that both types of training can significantly improve the active muscle contraction capacity.Combined with resistance training,tDCS is more effective in decreasing the coactivation level of triceps brachii during pull-ups and increasing the contraction efficiency of elbow joint muscles.

Objective To explore the effects of drug-coated balloons(DCB)on the patency rate of target lesion vessels,coagulation function and vascular endothelial function in patients with in-stent restenosis(ISR)after percutaneous endovascular angioplasty(PTA)for lower extremity arteriosclerosis obliterans(ASO).Methods A total of 62 patients with ISR and ASO admitted to the hospital were retrospectively enrolled between March 2020 and March 2022.According to different treatment methods,they were divided into DCB group(n=38)and common balloon(SAB)group(n=24).All were followed up for 12 months after surgery.The changes in primary patency rate of target lesion vessel,clinically driven-target lesion revascularization(CD-TLR)rate,late loss of values in the lumen(LLL),ankle-brachial index(ABI),coagulation function indexes[prothrombin time(PT),activated partial thromboplastin time(APTT),fibrinogen(FIB),D-dimer(D-D)]and vascular endothelial function indexes[serum endothelin-1(ET-1),nitric oxide(NO),flow-mediated dilatation(FMD)]were observed,and the occurrence of postoperative complications in the two groups was recorded.Results At 12 months after surgery,primary patency rate of target lesion vessels in DCB group was higher than that in SAB group(86.84％vs 50.00％),CD-TLR rate,LLL and ABI were lower than those in SAB group[13.16％,(1.39±0.52)mm,(0.76±0.12)vs 50.00％,(1.79±0.64)mm,(0.62±0.11);P＜0.05].At24h and 2 weeks after surgery,there was no significant difference in PT,APTT,FIB or D-D between the two groups(P＞0.05).At 24h and 2 weeks after surgery,levels of serum ET-1 in DCB group were lower than those in SAB group[(66.65±7.12)pg/ml,(65.58±6.98)pg/ml vs(71.74±6.92)pg/ml,(68.84±6.51)pg/ml)],while NO levels were higher than those in SAB group[(32.21±4.17)pg/ml,(34.62±3.32)pg/ml vs(28.53±5.23)pg/ml,(31.21±4.19)pg/ml;P＜0.05].At 2 weeks after surgery,FMD in DCB group was higher than that in SAB group[(12.49±5.33)％vs(9.14±4.42)％,P＜0.05].There was no significant difference in the total incidence of complications between the two groups(21.50％vs 12.50％,P＞0.05).Conclusion Compared with SAB,DCB can effectively protect vascular endothelial function and improve the primary patency rate of ISR after PTA in patients with lower extremity ASO.

Aim To verify the therapeutic effect of the Qushi Huoxue decoction(QSHXF)on a mouse model of non-alcoholic fatty liver disease(NAFLD)using network pharmacology and experimental approaches,to examine the changes in the PI3K-AKT-lipid metabo-lism signaling pathway,and to elucidate its molecular mechanisms.Methods The potential active ingredi-ents and targets of the QSHXF were identified using the TCMSP platform.NAFLD-related genes were sourced from the GeneCards,PharmGkb,TTD,and OMIM data-bases.The intersection of drug targets and NAFLD treatment targets was analyzed to identify the key tar-gets of the QSHXF in treating NAFLD.The STRING database and Cytoscape 3.9.1 software were utilized to construct networks linking traditional Chinese medicine active ingredients to disease targets and PPI networks,allowing for the screening of key active ingredients and core targets.GO and KEGG enrichment analyses of the intersecting targets were conducted using R version 4.2.2.The NAFLD model was established by feeding mice a methionine-choline deficient diet for a duration of five weeks.Following successful modeling,low,me-dium,and high doses of the QSHXF were administered for intervention over a period of six weeks.The efficacy was verified and the underlying mechanisms were ex-plored using methods such as HE staining,Oil Red O staining,and Western blot analysis.Results The net-work pharmacology prediction indicated that QSHXF might effectively treat NAFLD through key components such as quercetin and kaempferol,as well as core tar-gets including STAT3,AKT1,and HIF1A.KEGG en-richment analysis further suggested that QSHXF might exert its therapeutic effects on NAFLD via signaling pathways such as AGE-RAGE and PI3K-AKT.Verifi-cation through animal experiments demonstrated that QSHXF could significantly reduce hepatic steatosis and lipid droplet accumulation in NAFLD mice.Specifical-ly,it markedly decreased serum levels of TC,TG,ALT,AST,and LDL,while increasing HDL levels.Addition-ally,the treatment significantly reduced the protein ex-pression levels of p-PI3K,p-AKT,SREBP-1c,FASN,and ACC1 in the liver.Conclusions QSHXF can sig-nificantly enhance liver function,improve blood lipid levels,and alleviate hepatic steatosis in NAFLD mice,with its mechanism potentially linked to the inhibition of the PI3K-AKT-lipid metabolism signaling pathway.