Objective:To construct a preventive maintenance path based on risk control model for medical equipment in the operating room,and analyze its application effect in the management for medical equipment in the operating room.Methods:Based on 7 key factors included equipment characteristics,usage duration,startup frequency,operating efficiency,operator skills,maintenance frequency,and technical support in risk control model,we followed management mode of preventive maintenance,and constructed a preventive maintenance path from six dimensions which included management of equipment application,preventive maintenance and upkeep,predictive maintenance,fault repair,post upkeep,and quality monitoring.A total of 215 used medical equipment in operating room at Xiaolan People's Hospital of ZhongShan from January 2022 to December 2022 were selected,and the equipment during January and December 2022 received maintenance management by using conventional management method,and these during January and December 2023 received maintenance management by using preventive maintenance path method based on risk control model for medical equipment(model management method).The quality of management and operation for equipment between two kinds of management methods were compared.A self-designed questionnaire was adopted to investigate the operators'satisfaction for service quality of equipment in operating rooms.Results:The average standardization degree of using equipment,efficiency of maintenance,timely maintenance,and qualification rate of quality inspection of adopting model management method were respectively(94.43±4.26)%,(97.74±1.53)%,(86.78±6.72)%and(96.48±3.02)%,all of which were higher than those of adopting conventional method(t=22.583,34.738,14.820,18.577,P<0.05).The average rate of starting equipment and self-repair rate of the model management method were significantly higher than those of the conventional method,and the differences were statistically significant(t=10.355,7.624,12.811,P<0.05).The satisfaction scores of operators who used management for adopting model management method were higher than those for adopting conventional management method in applying and managing equipment,preventive upkeep,predictive maintenance,fault repair,post upkeep and quality monitoring,and the differences were statistically significant(t=18.653,22.942,18.752,23.673,40.055,37.120,P<0.05).Conclusion:The preventive maintenance path based on risk control model for medical equipment in operating room can improve the management quality for equipment in operating room,and enhance management effectiveness and operators'satisfaction.

Objective:To carry out genetic testing and clinical phenotypic characterization on a four-generation Chinese pedigree affected with Stickler syndrome type I and explore its genotype-phenotype correlation.Methods:A child presented at the Second Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine in February 2023 for micrognathia, glossoptosis and cleft palate and his family members were selected as the study subjects. Clinical data were collected from the affected members, and peripheral blood samples were obtained from 17 participants (4 patients and 13 asymptomatic individuals). Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genotype-phenotype correlations were analyzed by integrating the sequencing data with evidence from existing literature. This study has bee granted by the Ethics Committee of Guangdong Provincial Hospital of Traditional Chinese Medicine and Guangzhou Women and Children′s Medical Center (Ethics No.: 2022-406B00).Results:The four-generation pedigree has comprised 19 members. In addition to the proband, 5 affected individuals had manifested high myopia, congenital cataracts, and progressive vision loss. Two deceased members reportedly exhibited similar ocular manifestations. Among the four living patients, two had developed retinal detachment, while two others presented with chronic joint pain onset between 35 ~ 40 years of age. One patient required hip replacement surgery at age 42 secondary to femoral head necrosis. The proband, the youngest affected member, exhibited characteristic phenotypes including congenital micrognathia and cleft palate, consistent with Pierre-Robin syndrome. Genetic analysis revealed a heterozygous nonsense mutation in COL2A1 (NM_001844.5: c. 2668C>T; p. Gln890Ter) segregating with the disease in all four symptomatic patients. This variant was absent in asymptomatic family members and unaffected controls. While the mutation is listed in ClinVar, no clinical case reports has associated it with this phenotypic spectrum. It was not observed in population databases (gnomAD v4.1.0, 1000 Genomes Project, or ExAC), supporting its potential pathogenicity. Conclusion:This study has diagnosed a four-generation Chinese pedigree with Stickler syndrome type I attributed to the pathogenic COL2A1 variant c. 2668C>T (p.Gln890Ter), which is a rare nonsense mutation associated with ocular predominance and variable skeletal involvement. Notably, this family exhibited marked clinical heterogeneity despite sharing the identical genotype, which highlighted challenges in phenotype-genotype correlation. The autosomal dominant transmission pattern observed in this pedigree has provided critical insights into COL2A1-related collagenopathies and underscored the necessity of ultrasonographic monitoring for ocular anomalies in prenatal diagnostics. Above findings have advanced our understanding of pleiotropic effects in type Ⅱ collagen disorders and lay the foundation for precision-based genetic counseling, enabling targeted cascade screening and implementation of tertiary prevention strategies against congenital disabilities in high-risk families.

OBJECTIVE: To carry out genetic testing and clinical phenotypic characterization on a four-generation Chinese pedigree affected with Stickler syndrome type I and explore its genotype-phenotype correlation. METHODS: A child presented at the Second Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine in February 2023 for micrognathia, glossoptosis and cleft palate and his family members were selected as the study subjects. Clinical data were collected from the affected members, and peripheral blood samples were obtained from 17 participants (including 4 patients and 13 asymptomatic individuals). Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genotype-phenotype correlation was analyzed by integrating the sequencing data with evidence from existing literature. This study has bee granted by the Ethics Committee of Guangdong Provincial Hospital of Traditional Chinese Medicine and Guangzhou Women and Children's Medical Center (Ethics No.: 2022-406B00). RESULTS: The four-generation pedigree has comprised 19 members. In addition to the proband, 5 affected individuals had manifested with high myopia, congenital cataracts, and progressive vision loss. Two deceased members reportedly exhibited similar ocular manifestations. Among the four living patients, two had developed retinal detachment, while two others presented with chronic joint pain onset between 35 ~ 40 years of age. One patient required hip replacement surgery at age 42 secondary to femoral head necrosis. The proband, the youngest affected member, exhibited characteristic phenotypes including congenital micrognathia and cleft palate, consistent with Pierre-Robin syndrome. Genetic analysis revealed a heterozygous nonsense mutation in COL2A1 (NM_001844.5: c.2668C>T; p.Gln890Ter) segregating with the disease in all four symptomatic patients. This variant was absent in asymptomatic family members and unaffected controls. While the mutation is listed in ClinVar, no clinical case report has associated it with this phenotypic spectrum. It was not recorded in population databases (gnomAD v4.1.0, 1000 Genomes Project, or ExAC), supporting its potential pathogenicity. CONCLUSION This study has diagnosed a four-generation Chinese pedigree with Stickler syndrome type I attributed to the pathogenic COL2A1 variant c.2668C>T (p.Gln890Ter), which is a rare nonsense mutation associated with ocular predominance and variable skeletal involvement. Notably, this family exhibited marked clinical heterogeneity despite sharing the identical genotype, which highlighted the challenges in phenotype-genotype correlation. The autosomal dominant transmission pattern observed in this pedigree has provided critical insights into COL2A1-related collagenopathies and underscored the necessity of ultrasonographic monitoring for ocular anomalies during prenatal diagnosis. Above findings have advanced our understanding of the pleiotropic effects in type Ⅱ collagen disorders and laid the foundation for precision-based genetic counseling, enabling targeted cascade screening and implementation of tertiary prevention strategies against congenital disabilities for high-risk families.
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Arthritis/genetics* ; Collagen Type II/genetics* ; Connective Tissue Diseases/genetics* ; Exome Sequencing ; Genetic Association Studies ; Genotype ; Hearing Loss, Sensorineural/genetics* ; Mutation ; Pedigree ; Phenotype ; Retinal Detachment/genetics* ; East Asian People/genetics*

Objective:To construct a preventive maintenance path based on risk control model for medical equipment in the operating room,and analyze its application effect in the management for medical equipment in the operating room.Methods:Based on 7 key factors included equipment characteristics,usage duration,startup frequency,operating efficiency,operator skills,maintenance frequency,and technical support in risk control model,we followed management mode of preventive maintenance,and constructed a preventive maintenance path from six dimensions which included management of equipment application,preventive maintenance and upkeep,predictive maintenance,fault repair,post upkeep,and quality monitoring.A total of 215 used medical equipment in operating room at Xiaolan People's Hospital of ZhongShan from January 2022 to December 2022 were selected,and the equipment during January and December 2022 received maintenance management by using conventional management method,and these during January and December 2023 received maintenance management by using preventive maintenance path method based on risk control model for medical equipment(model management method).The quality of management and operation for equipment between two kinds of management methods were compared.A self-designed questionnaire was adopted to investigate the operators'satisfaction for service quality of equipment in operating rooms.Results:The average standardization degree of using equipment,efficiency of maintenance,timely maintenance,and qualification rate of quality inspection of adopting model management method were respectively(94.43±4.26)%,(97.74±1.53)%,(86.78±6.72)%and(96.48±3.02)%,all of which were higher than those of adopting conventional method(t=22.583,34.738,14.820,18.577,P<0.05).The average rate of starting equipment and self-repair rate of the model management method were significantly higher than those of the conventional method,and the differences were statistically significant(t=10.355,7.624,12.811,P<0.05).The satisfaction scores of operators who used management for adopting model management method were higher than those for adopting conventional management method in applying and managing equipment,preventive upkeep,predictive maintenance,fault repair,post upkeep and quality monitoring,and the differences were statistically significant(t=18.653,22.942,18.752,23.673,40.055,37.120,P<0.05).Conclusion:The preventive maintenance path based on risk control model for medical equipment in operating room can improve the management quality for equipment in operating room,and enhance management effectiveness and operators'satisfaction.

Objective:To carry out genetic testing and clinical phenotypic characterization on a four-generation Chinese pedigree affected with Stickler syndrome type I and explore its genotype-phenotype correlation.Methods:A child presented at the Second Affiliated Hospital of Guangzhou University of Traditional Chinese Medicine in February 2023 for micrognathia, glossoptosis and cleft palate and his family members were selected as the study subjects. Clinical data were collected from the affected members, and peripheral blood samples were obtained from 17 participants (4 patients and 13 asymptomatic individuals). Whole exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genotype-phenotype correlations were analyzed by integrating the sequencing data with evidence from existing literature. This study has bee granted by the Ethics Committee of Guangdong Provincial Hospital of Traditional Chinese Medicine and Guangzhou Women and Children′s Medical Center (Ethics No.: 2022-406B00).Results:The four-generation pedigree has comprised 19 members. In addition to the proband, 5 affected individuals had manifested high myopia, congenital cataracts, and progressive vision loss. Two deceased members reportedly exhibited similar ocular manifestations. Among the four living patients, two had developed retinal detachment, while two others presented with chronic joint pain onset between 35 ~ 40 years of age. One patient required hip replacement surgery at age 42 secondary to femoral head necrosis. The proband, the youngest affected member, exhibited characteristic phenotypes including congenital micrognathia and cleft palate, consistent with Pierre-Robin syndrome. Genetic analysis revealed a heterozygous nonsense mutation in COL2A1 (NM_001844.5: c. 2668C>T; p. Gln890Ter) segregating with the disease in all four symptomatic patients. This variant was absent in asymptomatic family members and unaffected controls. While the mutation is listed in ClinVar, no clinical case reports has associated it with this phenotypic spectrum. It was not observed in population databases (gnomAD v4.1.0, 1000 Genomes Project, or ExAC), supporting its potential pathogenicity. Conclusion:This study has diagnosed a four-generation Chinese pedigree with Stickler syndrome type I attributed to the pathogenic COL2A1 variant c. 2668C>T (p.Gln890Ter), which is a rare nonsense mutation associated with ocular predominance and variable skeletal involvement. Notably, this family exhibited marked clinical heterogeneity despite sharing the identical genotype, which highlighted challenges in phenotype-genotype correlation. The autosomal dominant transmission pattern observed in this pedigree has provided critical insights into COL2A1-related collagenopathies and underscored the necessity of ultrasonographic monitoring for ocular anomalies in prenatal diagnostics. Above findings have advanced our understanding of pleiotropic effects in type Ⅱ collagen disorders and lay the foundation for precision-based genetic counseling, enabling targeted cascade screening and implementation of tertiary prevention strategies against congenital disabilities in high-risk families.

Objective To compare the effectiveness and safety of semaglutide with dulaglutide in patients diagnosed with type 2 diabetes.Methods A multicenter retrospective cohort study was conducted to include patients with type 2 diabetes who received semaglutide or dulaglutide treatment at three hospitals between April 2021 and July 2023 in the study.The patients were divided into the semaglutide group(SEMA group)and the dulaglutide group(DULA group)based on their treatment.Propensity score matching was used to pair the two groups in a 1:1 ratio,aligning them based on baseline characteristics such as gender,age,body mass index,blood glucose levels,duration of diabetes,and complications.Various parameters including fasting blood glucose,2-hour postprandial blood glucose,glycosylated hemoglobin(HbA1c),serum creatinine,urea nitrogen levels,estimated glomerular filtration rate(eGFR),urinary albumin/creatinine ratio(UACR),and occurrences of adverse reactions were assessed at 3,6,9,and 12 months after the treatment.Results After propensity score matching,98 patients were included in both the SEMA and DULA groups,showing no statistically significant differences in baseline characteristics between the groups(P＞0.05).At each follow-up point,the fasting blood glucose,2-hour postprandial blood glucose,and HbA1c levels of both groups showed a significant decrease compared to the baseline(P≤0.05).The inter-group comparison revealed no statistically significant differences in the changes in fasting blood glucose,2-hour postprandial blood glucose,and HbA1c levels between the two groups(P＞0.05).At the 6th month,the SEMA group exhibited a statistically significant higher rate of HbA1c＜7％compared to the DULA group(P＜0.05).In the SEMA group,serum creatinine and urea nitrogen decreased significantly at the 6th month compared to baseline,while eGFR showed an increase at the 3rd and 6th month,and UACR decreased,all with statistical significance(P＜0.05).In the DULA group,there was a statistically significant increase in serum creatinine and decrease at the 3rd and 6th months in eGFR,respectively.Additionally,urea nitrogen levels decreased significantly at the 9th month,all differences were statistically significant(P＜0.05).The inter-group comparison revealed that at the 3rd and 6th month,the SEMA group exhibited a greater reduction in serum creatinine levels compared to the DULA group.Additionally,the SEMA group demonstrated a more pronounced increase in eGFR levels than the DULA group,with statistical significance(P＜0.05).At the 6th month,the SEMA group exhibited a significantly greater decrease in UACR and a significantly lower incidence of renal insufficiency compared to the DULA group(P＜0.05).There were no significant difference in the incidence of adverse reactions between the two groups(P＞0.05).Conclusion Semaglutide and dulaglutide can significantly improve blood glucose control,exhibit comparable effectiveness and safety in lowering blood glucose levels,and semaglutide has a potentially protective effect on renal function.

Objective To establish a nomogram prediction model of hyperuricemia(HUA)onset risk in overweight and obese children and adolescents in order to provide reference for the prevention and treatment of HUA in this population.Methods The clinical data of 1 410 overweight and obese children and adolescents aged 6-17 years old visiting in this hospital from September 2021 to August 2022 were retrospectively analyzed.A total of 987 overweight and obese children and adolescents were randomly extracted according to a ratio of 7:3 to establish the model,and the remaining 423 cases were validated internally.Referring to the definition of high uric acid in"Zhu-futang Practical Pediatrics",the subjects were divided into high uric acid group and non-high uric acid group.The logis-tic regression analysis was used to analyze the influencing factors of HUA in overweight and obese children and adoles-cents.The nomogram model was constructed by using the R language.The area under the receiver operating character-istic(ROC)curve(AUC),decision analysis curve(DIC),clinical impact curve(CIC)and C-index were used to evalu-ate the predictive ability of the model,and the Bootstrap repeated sampling method(taking samples for 1000 times)was used for internal validation of the model.Results The results of multivariate analysis showed that the age(OR=2.324,95％CI:1.155-4.672,P=0.018),gender(OR=0.456,95％CI:0.256-0.810,P=0.007),triglycerides(OR=3.775,95％CI:2.321-6.138,P＜0.001),blood calcium(OR=26.986,95％CI:3.186-228.589,P=0.003)and blood creatinine(OR=1.047,95％CI:1.026-1.070,P＜0.001)were the influen-cing factors of HUA in overweight and obese children and adolescents.AUC of the ROC curve of the model was 0.840,the sensitivity was 0.786,the specificity was 0.762,the Youden index was 0.548,and the C-index was 0.840.The risk probability of DC A was 0.1-0.8,the net benefit rate of both models was＞0,AUC of ROC curve in the internal verification was 0.871.Conclusion The constructed nomogram in this study has a good predictive efficiency for the onset risk of HUA in overweight and obese children and adolescents,and may provide reference for the early diagnosis and treatment of this population.

Objective To construct a rehabilitation nursing program for stroke patients based on the international classification of functioning, disability and health (ICF). Methods The relevant domestic and foreign literatures were systematically searched, and a draft of the rehabilitation nursing program for stroke patients based on the 17 functional items in the four dimensions of ICF functional evaluation was constructed. The Delphi method was used to consult experts to further improve the program. Results A total of 16 experts completed two rounds of expert consultation. The expert authority coefficients of the first and second rounds of consultation were 0.897 and 0.897, respectively, with coefficient of variations ranging from 0.05 to 0.27 and 0.05 to 0.19, respectively. The Kendall's W coefficients were 0.384 and 0.452 (χ²=104.375, 122.831, P < 0.001), respectively. In the final rehabilitation nursing program for stroke patients, there were four first-level indicators (functional domains), 17 second-level indicators (intervention contents), and 73 third-level indicators (specific measures). Conclusion The rehabilitation nursing program for stroke patients based on ICF is scientific and reliable, and may provide theoretical support and practical guidance for the rehabilitation nursing of clinical stroke patients.

Cell metabolomics is an important branch of metabolomics, which could dynamically monitor cell response and metabolic changes after drugs acting on cells, and look for potential biomarkers. Cell metabolomics has been widely used in illustration of disease mechanism, evaluation of drug efficacy and development of new drug through elucidating the pathophysiological mechanism of the disease and the effect of drug treatment intervention. The researches process of cellular metabolomics and its application in central nervous system diseases were reviewed in order to provide theoretical basis for in-depth study of the pathogenesis and prevention and treatment of central nervous system diseases.

ObjectiveTo investigate the effects of Huashi Runzao prescription （HRP） on the histopathological injury and function of submandibular gland in naive non-obese diabetic （NOD/Ltj） mouse model of Sjögren's syndrome （SS） and its regulatory effect on aquaporin 5 （AQP5） expression in submandibular gland cells. MethodThe SS model was induced in NOD/Ltj mice. The NOD/Ltj female mice aged nine weeks were selected and randomly assigned into model group，HRP group （7.15 g·kg^-1·d^-1），and hydroxychloroquine （HCQ） group （1.30 g·kg^-1·d^-1）， and female BALB/c mice in the same age were selected and assigned into the normal group， with six mice in each group. Drug intervention lasted eight weeks. The water consumption and salivary flow rate （SFR） of each group were recorded. The pathological staining results of the submandibular gland of mice in each group were observed and scored. AQP5 expression was determined by immunohistochemistry （IHC） and Western blot. ResultCompared with the normal group， the model group showed increased water consumption （P<0.05） and reduced SFR （P<0.05）. Compared with the model group， the HRP group showed decreased water consumption （P<0.05） and increased SFR （P<0.05）， and the HCQ group showed increased SFR （P<0.05）. In terms of histopathological results of the submandibular gland，compared with the normal group，the model group showed increased pathological score， number of lymphocyte infiltration foci，and percentage of lymphatic infiltration area （P<0.05）. Compared with the model group， the HRP group showed reduced pathological scores and number of lymphocyte infiltration foci （P<0.05）， and the HRP group and the HCQ group showed reduced percentage of lymphatic infiltration area（P<0.05）. The results of IHC and Western blot showed that compared with the normal group，the model group showed down-regulated expression level of AQP5 protein （P<0.05）， and compared with the model group and the HCQ group，the HRP group showed up-regulated expression level of AQP5 protein （P<0.05）. ConclusionHRP can improve the secretion function of submandibular gland acinous cells and glandular structure injury in SS model mice， and its mechanism may be related to the up-regulation of AQP5 protein expression level in submandibular gland cells.