Objective Taking a tertiary hospital in Beijing as an example,to investigate patients'continuous use inclination towards utilizing Internet diagnosis and treatment,dissect the influential factors and elucidate the pathway through which these factors exert their impact,and propose recommendations for optimizing internet diagnosis and treatment services in the hospital.Methods Based on the model of continuous use of information system and the model of success of information system,it constructed a structural equation model of the willingness to use Internet diagnosis and treatment service continuously and put forward the hypotheses,conducted a questionnaire survey.Descriptive analysis,reliability and validity tests,structural model analysis and hypothesis testing were conducted using Excel and SmartPLS 4.0 software to validate the research hypotheses.Results The information quality,service quality,and system quality of Internet diagnosis and treatment services have a positive effect on patients'willingness to continue to use them,with perceived usefulness and user satisfaction playing a major mediating role.Conclusion Internet hospitals should establish skill training and medical record review mechanisms,improve service processes and communication norms,optimize system design and user experience,enhance interactivity and personalized services,to promote the sustainable development of Internet diagnosis and treatment services in entity medical institutions.

Objective:To screen serum biomarkers of polycystic ovary syndrome (PCOS) patients by high throughput data independent acquisition (DIA) proteomics technology.Methods:This was a case-control study. A total of 39 peripheral blood samples were collected at Reproductive Medical Center of Jiangxi Maternal and Child Health Hospital from March to November 2021. Among which, 20 cases were from PCOS patients, and 19 cases were from women who underwent assisted reproduction due to male factors causing infertility. DIA proteomics technology combined with bioinformatics analysis were performed to screen for differential protein expression profiles in the serum of PCOS patients. Typical differentially expressed proteins were selected for expression analysis and receiver operating characteristic (ROC) curve analysis, followed by enzyme-linked immunosorbent assay (ELISA) validation.Results:The results of DIA proteomics combined with bioinformatics analysis showed that compared with control group, 194 significantly differentially expressed proteins were screened in the peripheral blood of PCOS patients, including 64 upregulated proteins and 130 downregulated proteins. The ROC curve analysis results showed that the area under curve values of PSMD8, RPS15A, NDUFB1, GM2A, and TOP2A were all above 0.9, indicating that these proteins have good diagnostic value. The ELISA validation results showed that the content of TOP2A in peripheral blood of PCOS patients was significantly upregulated ( P=0.046), while the content of GM2A was significantly downregulated ( P=0.021), when compared with control group, which consistent with the DIA results. Conclusion:DIA proteomics can be used to screen the differential expression of peripheral blood proteins in PCOS patients, among which, PSMD8, RPS15A, NDUFB1, GM2A and TOP2A can be used as serum biomarkers for PCOS diagnosis and treatment.

Objective:To screen serum biomarkers of polycystic ovary syndrome (PCOS) patients by high throughput data independent acquisition (DIA) proteomics technology.Methods:This was a case-control study. A total of 39 peripheral blood samples were collected at Reproductive Medical Center of Jiangxi Maternal and Child Health Hospital from March to November 2021. Among which, 20 cases were from PCOS patients, and 19 cases were from women who underwent assisted reproduction due to male factors causing infertility. DIA proteomics technology combined with bioinformatics analysis were performed to screen for differential protein expression profiles in the serum of PCOS patients. Typical differentially expressed proteins were selected for expression analysis and receiver operating characteristic (ROC) curve analysis, followed by enzyme-linked immunosorbent assay (ELISA) validation.Results:The results of DIA proteomics combined with bioinformatics analysis showed that compared with control group, 194 significantly differentially expressed proteins were screened in the peripheral blood of PCOS patients, including 64 upregulated proteins and 130 downregulated proteins. The ROC curve analysis results showed that the area under curve values of PSMD8, RPS15A, NDUFB1, GM2A, and TOP2A were all above 0.9, indicating that these proteins have good diagnostic value. The ELISA validation results showed that the content of TOP2A in peripheral blood of PCOS patients was significantly upregulated ( P=0.046), while the content of GM2A was significantly downregulated ( P=0.021), when compared with control group, which consistent with the DIA results. Conclusion:DIA proteomics can be used to screen the differential expression of peripheral blood proteins in PCOS patients, among which, PSMD8, RPS15A, NDUFB1, GM2A and TOP2A can be used as serum biomarkers for PCOS diagnosis and treatment.

Objective Taking a tertiary hospital in Beijing as an example,to investigate patients'continuous use inclination towards utilizing Internet diagnosis and treatment,dissect the influential factors and elucidate the pathway through which these factors exert their impact,and propose recommendations for optimizing internet diagnosis and treatment services in the hospital.Methods Based on the model of continuous use of information system and the model of success of information system,it constructed a structural equation model of the willingness to use Internet diagnosis and treatment service continuously and put forward the hypotheses,conducted a questionnaire survey.Descriptive analysis,reliability and validity tests,structural model analysis and hypothesis testing were conducted using Excel and SmartPLS 4.0 software to validate the research hypotheses.Results The information quality,service quality,and system quality of Internet diagnosis and treatment services have a positive effect on patients'willingness to continue to use them,with perceived usefulness and user satisfaction playing a major mediating role.Conclusion Internet hospitals should establish skill training and medical record review mechanisms,improve service processes and communication norms,optimize system design and user experience,enhance interactivity and personalized services,to promote the sustainable development of Internet diagnosis and treatment services in entity medical institutions.

Objective To investigate the characteristics of clinical manifestations and genetics of late-onset cobalamin (cbl) C deficiency,also named as combined methylmalonic acidemia and homocystinemia, cblC type. Methods We reviewed 26 late-onset cblC deficiency patients diagnosed in Qilu Hospital, Shandong University from 2012 to 2017 and analysed the clinical, biochemistry, neuroimaging, follow-up and MMACHC gene data. Results Among the 26 patients, male:female ratio is 11:15, with the age of diagnosis from 4 to 39 years and sibling comorbidity in 4 families. The clinical manifestaions of nervous system included spastic paraplegia,mental and behavior disorder,intelectual decline,epilepsy,ataxia,dystonia and peripheral neuropathy. There were four cases with proteinuria at onset. At first visit, the levels of serum total homocystinuria of all patients were elevated, from 61.4 to 193.4μmol/Lwith methylmalonic acidemia. The neuroimaging data of the 26 cases showed 11 with cerebral atrophy, 10 with thoracic spinal cord atrophy, five with brain parenchymal lesions, three with longitudinal myelopathy which were reversible in follow-up, one with syringomyelia, one with multiple cerebral artery stenosis. In all the cases, cobalamins were supplied parenterally and folate, betaine, L-carnitine, vitamin B6 were supplied orally during acute metabolic crisis, and the symptoms of acute encephalopathy disappeared but symptoms of spastic paraplegia had little improvement. In chronic stage, frequency of intramuscular injection of hydroxocobalamine could be decreased while the index can still be improved. All the 26 cases had definite mutations in MMACHC gene, the most common mutations of which were found to be c.482G>A(15/52) and c. 609G>A(13/52). Conclusions Homocystine is the important biomarker for cblC deficiency. Once diagnosed, parenteral hydroxocobalamin and oral betaine should be supplied for a lifetime with good prognosis. The most common mutations of MMACHC gene in our cases are c. 482G>A and c. 609G>A missense mutations.

Objective To study features of the MRI and clinic in a family with pure hereditary spastic paraplegia (PHSPG) type 6.Methods Target loci (SPG3, 4, 6, 8 10 and 12) linkage analysis was performed in a SPG pedigree having 6 affected individuals using microsatellite markers and NIPA1 gene was screened for mutation by PCR-amplification and sequencing. MRI of brain and cervical and thoracic spinal cord were examined in these 6 patients and 6 normal controls matched for age and sex by two independent radiologists blinded to the clinical diagnosis. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C2～3, C7, T1～4, T9 were measured and data was statistically analyzed using the student's t test. Results A missense mutation of 316g→c in NIPA1 was identified in the affected subjects, presumably resulting in substitution of glutamic acid for arginine in residue 106. Evaluation of the brain MRI images revealed non-specific brain abnormalities. All patients presented thinning of cervical and upper thoracic spine with atrophy in both gray and white matter and enlarged subarachnoid cavity. In severe atrophic segments, a distinct boundary between grey and white matter was observed and the lesions in grey matter presented literal high intensity spots or patches with clear boundary on transaxial T2-weighted images (T2WI) and high signal intensity longitudinal strip on the sagittal T2WI. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at C2～3, C7, T1～4 were significantly smaller in patients than in controls, while at the T9 level only transverse diameter showed significant difference (7.22±0.08 vs 8.17±0.41, t=2.870, P=0.046). Conclusions These findings indicate that the disease process in patients with SPG6 might be confined to the cervical and thoracic spinal cord, with atrophy in both white and grey matter having a distinct boundary.