Objective:To assess health-related quality of life and disease burden of Chinese Phenylketonuria(PKU)patients and inform optimized management and support strategies.Methods:A cross-sectional survey is conducted to explore questionnaires.The Delphi method was applied to form a standardized questionnaire.Results:A total of 263 valid questionnaires were collected.The average patient age was 7.6 years.Younger patients reported better quality of life.Mean total medical cost per patient was 238 461.9 yuan,exceeding the 2024 national per capita disposable income.Conclusion:PKU patients are facing significant challenges in both quality of life and economic burden.

Objective:To assess health-related quality of life and disease burden of Chinese Phenylketonuria(PKU)patients and inform optimized management and support strategies.Methods:A cross-sectional survey is conducted to explore questionnaires.The Delphi method was applied to form a standardized questionnaire.Results:A total of 263 valid questionnaires were collected.The average patient age was 7.6 years.Younger patients reported better quality of life.Mean total medical cost per patient was 238 461.9 yuan,exceeding the 2024 national per capita disposable income.Conclusion:PKU patients are facing significant challenges in both quality of life and economic burden.

Objective To observe the effect of transcatheter thrombectomy combined with catheter-directed thrombolysis(CDT)for treating acute medium-high and high risk pulmonary thromboembolism(PTE).Methods After placement of inferior vena cava filter,transcatheter thrombectomy combined with CDT were performed in 28 patients with acute medium-high or high risk PTE.After treatment,clinical symptoms improved or not was assessed,and interventional related complications were recorded.The outcomes of arterial blood gas analysis,coagulation function,blood routine test,pulmonary artery pressure(PAP)and right ventricular diameter/left ventricular diameter(RV/LV)were compared before and 72 h after treatment.Regular follow-up was performed,then PAP and the clearance of pulmonary arterial thrombosis were observed 1,3,6 months and 1 year after treatment during follow-up.Results Among 28 cases,significant improvement of clinical symptoms achieved in 26 cases after treatment,while 2 patients died of respiratory failure.Puncture site bleeding occurred in 4 cases and improved after conservative treatment.Compared with those before treatment,among 26 survived patients,blood pH,arterial oxygen pressure,fibrin degradation products and D-dimer increased while the heart rate,N-terminal pro-B-type natriuretic peptide,PAP and RV/LV decreased 72 h after treatment(all P＜0.05).During follow-up,compared with those before treatment,PAP decreased,while the clearance rate of pulmonary thrombosis increased 1,3,6 months and 1 year after treatment(all P＜0.05).No active bleeding nor recurrence of PTE happened.Conclusion Transcatheter thrombectomy combined with CDT was safe and effective for treating acute medium-high and high risk PTE.

Autoimmune disease(AID)is a disease in which the body loses tolerance to autoantigens and the immune system attacks its own tissues,resulting in organ and tissue damage and certain clinical manifestations.Studies have proved that pathogenic T cells can be selectively inhibited or killed by TCR vaccine in the treatment of AID,thus bringing broad application prospect.This pa-per briefly summarizes the research status of TCR vaccine in AID field,regarding action mechanism,related diseases and safety of TCR vaccine.

Objective To explore the correlation between lipid metabolism disorder in bone marrow and primary osteoporosis(OP),and to evaluate the regulation and clinical significance of lipid metabolism-related genes in primary OP.Methods The differentially expressed genes(DEGs)of OP were obtained from GSE35959 dataset,and combined with human lipid metabolism-related genes to screen the differentially expressed lipid metabolism genes of OP patients.The STRING 11.0 database was used to establish a protein-protein interaction(PPI)network,and the receive operation characteristic curve was used to explore the significance of key proteins in PPI in the differential diagnosis of OP.Results A total of 2105 DEGs(1940 up-regulated genes and 165 down-regulated genes)were identified in the mesenchymal stem cells of OP patients.Of them,75 DEGs were related to lipid metabolism and mainly involved in the cellular lipid metabolism and small molecule lipid metabolism through arachidonic acid and glycerophospholipid metabolism related signaling pathways.The PPI of lipid metabolism-related genes in OP patients contained 75 nodes and 65 interaction relationships(P<0.01).There were 7 nodes(HELZ2,CYP4A11,ALOX5,PTGS2,CYP4F2,ALOX12B,FABP4)with an interaction relationship≥5.The expression levels of these genes in OP patients were significantly higher than those in the control group(P<0.05).ALOX5 expression was negatively correlated with HELZ2 expression(P<0.05).HELZ2,CYP4A11,ALOX5,PTGS2,CYP4F2,ALOX12B and FABP4 all showed differential diagnosis significance for OP,and the area under the AUC curve was all>0.80(P<0.05).Conclusion Primary OP patients have lipid metabolism disorders in bone marrow,and lipid metabolism-related genes have a certain regulatory effect on the above process.Seven lipid metabolism-related genes screened in this study have certain differential diagnosis ability for primary OP.

Transcranial alternating current stimulation is a non-invasive electric stimulation therapy and a promising neuromodulation approach to treat brain-related diseases. This article briefly introduces the factors related to treatment efficacy, possible mechanism, clinical application, and future development of transcranial alternating current stimulation.

Transcranial alternating current stimulation is a non-invasive electric stimulation therapy and a promising neuromodulation approach to treat brain-related diseases. This article briefly introduces the factors related to treatment efficacy, possible mechanism, clinical application, and future development of transcranial alternating current stimulation.

Objective To investigate the effect of acupuncture combined with hyperbaric oxygen therapy on neurological function and daily living ability of patients with cerebral hemorrhage. Methods From January 2014 to June 2017,one hundred and twenty-three patients with cerebral hemorrhage which hospitalized in the Department of Neurosurgery of Hebei Provincial Corps Hospital were selected and randomly divided into three groups: acupuncture group, acupuncture + hyperbaric oxygen group ( combined group ) and control group. The acupuncture group was given acupuncture on the basis of routine medical treatment after minimally invasive surgery treatment; the combined group was treated with acupuncture treatment as well as hyperbaric oxygen therapy after minimally invasive surgery; the control group was only treated with conventional medical therapy without any special treatment. The scores of nerve function defect,Fusl-Meyer motor function assessment scale,daily living ability score,cognitive function score,Glasgow coma scale at the 40th day of admission were evaluated and compared respectively,and the clinical effect were evaluated as well. Results After treatment, the NHISS score of the control group,the acupuncture group and the combined group decreased in turn. The score of Fusl-Meyer exercise function rating scale, the daily living ability score, the cognitive function score and the Glasgow coma scale were increased in turn, and the differences were statistically significant ( F=276. 620, 76. 050,31. 770,116. 598,33. 745,P<0. 01) . The total effective rate of the control group,acupuncture group and combined group increased sequentially (61％,76％,90％),and the difference was statistically significant (χ2=18. 547,P<0. 01) . Conclusion Acupuncture therapy for patients with cerebral hemorrhage can effectively promote the improvement of nerve function, daily living ability and prognosis. Acupuncture combined with hyperbaric oxygen can get more obvious therapeutic effect.

Objective To screen the pathogenic gene of osteopetrosis to provide reference for its genetic di-agnosis and prognosis .Methods The clinical data and peripheral blood samples were collected from the pa-tients with osteopetrosis ,DNA was extracted ,the whole exome sequencing library was built ,then the high throughput detection was performed and the pathogenic gene was screened by combining with the bioinformat-ics technology .Results The whole exomes in 2 cases of osteopetrosis were analyzed ,the average sequencing depth of the two samples were 169 .38X and 231 .06X respectively ,in which the case 1 carried rare mutation TCIRG1(c .1305+2T>C) ,TCIRG1(c .2008C> T ) and CLCN7(c .1116C> T );the case 2 carried a rare muta-tion CLCN7(c .857G>A ) .T he bioinformatics analysis indicated that the rare mutations carried by these cases all had different degrees of influence on the structure and function of gene products .Conclusion The whole exome sequencing can once screen the know n pathogenic mutations of osteopetrosis ,is an effective tool for pathogenic mutation screening of osteopetrosis ,the clinical disease in 2 cases of osteopetrosis may be closely related with the patient′s carrying TCIRG1 and CLCN7 mutation .

Objective:To investigate the method of arthroplasty for reconstructing femporomandibular joint (TMJ) after the establishment of TMJ articular defect models in the rabbits,and to clarify the replacement and repair effects of carboh fiber reinforced polyetheretherketone (CFR-PEEK) material TMJ prostheses,and to provide an experimental basis for the clinical application of CFR-PEEK artificial joints to replace TMJ.Methods:Thirteen healthy adult Japanese rabbits were randomly divided into experimental group (n=6),positive control group (n=4) and negative control group (n =3).The right TMJ articular process of the rabbits in experimental group were resected to establish the joint defect models,and then the CFR-PEEK artificial joints were impanted.The right TMJ articular process of the rabbits in positive control group were resected,and the joint defect models were established without the CFR-PEEK artificial joint implantation.The rabbits in negative control group didn't receive any treatment.The body weights of the rabbits in each group were measured in 13 weeks.The effects of fixation and replacement after artificial joint implantation were assessed by CT imaging.Results:The TMJ articular process defect model was successfully implanted with the CFR-PEEK artificial joint.The CT imaging results after threedimensional reconstruction and CT images by contrast in vitro showed that the CFR-PEEK-implanted artificial joint was fixed well,it could be instead of the normal joint function.Compared with positive control group,the weights of rabbits in experimental group were significantly increased (P＜ 0.05) at 13 weeks;compared with positive control group,the weights of rabbits in experimental group and negative control group were both significantly increased (P＞0.05) at 13 weeks,but there was no significant difference between them (P＞0.05).The weights of rabbits in experimental group and negative control group kept normal growth;the weights of rabbits in positive control group was increased slowly,and even stopped growing or was negative.Conclusion:The CFR-PEEK artificial joint can be successfully implanted into the TMJ defect model and be used to repair the defect which help to restore chewing function.The CFR-PEEK is expected to be an ideal material for reconstructing TMJ.