Objective:To explore the clinical features and genetic etiology of a child with a SETD1B gene variant causing seizures and language delay. Methods:A child with a SETD1B gene variant admitted to the Department of Pediatric Neurology at the Third Affiliated Hospital of Zhengzhou University in September 2022 was selected as the study subject. Clinical data of the child were collected, and peripheral blood samples from the child and her parents were obtained. Whole exome sequencing (WES) was performed for genetic testing, and Sanger sequencing was used for familial validation of the candidate variant. Using " SETD1B" and " epilepsy" as the Chinese and English keywords, relevant cases were retrieved from databases including CNKI, Wanfang Data, OMIM and PubMed, with the search period spanning from database inception to June 2024. Results:① The child was a 6-year-old female presenting with myoclonic seizures accompanied by global developmental delay. ② WES and Sanger sequencing revealed that the child has carried a de novo SETD1B gene variant, namely, c. 5582G>A (p.Cys1961Tyr). According to the American College of Medical Genetics and Genomics (ACMG) guidelines for sequence variant interpretation, this variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP2+ PP3). ③ The child was not controlled with effective doses of valproate, levetiracetam, or clonazepam but was successfully managed with low-dose lamotrigine. Follow-up electroencephalography showed normal results, and developmental progress gradually improved. ④ A total of 37 epilepsy cases with SETD1B gene variants were reported across six studies. The predominant seizure types included absence seizures and myoclonic absence seizures, accompanied by delayed language development. The response to pharmacological treatment was generally poor, with no statistically significant difference in incidence between males and females. Conclusion:SETD1B gene variant may induced neurological disorders with drug-resistant epilepsy and severe clinical manifestations. Lamotrigine is effective in controlling the epileptic seizures.

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OBJECTIVE: To explore the clinical features and genetic etiology of a child with a SETD1B gene variant causing seizures and language delay. METHODS: A child with a SETD1B gene variant admitted to the Department of Pediatric Neurology at the Third Affiliated Hospital of Zhengzhou University in September 2022 was selected as the study subject. Clinical data of the child were collected, and peripheral blood samples from the child and her parents were obtained. Whole exome sequencing (WES) was performed for genetic testing, and Sanger sequencing was used for familial validation of the candidate variant. Using "SETD1B" and "epilepsy" as the Chinese and English keywords, relevant cases were retrieved from databases including CNKI, Wanfang Data, OMIM and PubMed, with the search period spanning from database inception to June 2024. RESULTS: The child was a 6-year-old female presenting with myoclonic seizures accompanied by global developmental delay. WES and Sanger sequencing revealed that the child has carried a de novo SETD1B gene variant, namely c.5582G>A (p.Cys1961Tyr). According to the American College of Medical Genetics and Genomics (ACMG) guidelines for sequence variant interpretation, this variant was classified as likely pathogenic (PS2+PM2_Supporting+PP2+PP3). The child was not controlled with effective doses of valproate, levetiracetam, or clonazepam but was successfully managed with low-dose lamotrigine. Follow-up electroencephalography showed normal results, and developmental progress gradually improved. A total of 37 epilepsy cases with SETD1B gene variants were reported across six studies. The predominant seizure types included absence seizures and myoclonic absence seizures, accompanied by delayed language development. The response to pharmacological treatment was generally poor, with no significant difference in incidence between males and females. CONCLUSION SETD1B gene variants may cause neurological disorders with drug-resistant epilepsy and severe clinical manifestations. Lamotrigine is effective in controlling the epileptic seizures.
Humans ; Female ; Child ; Epilepsy/genetics* ; Language Development Disorders/genetics* ; Histone-Lysine N-Methyltransferase/genetics* ; Exome Sequencing ; Male

Objective To conduct preliminary evaluation of the reliability and safety of pancreatic duct-to-jejunum stent-bridging internal drainage as a supplementary approach to pancreaticojejunostomy in central pancreatectomy.Methods The clinical data of 28 patients who underwent robotic central pancreatectomy performed by our team between January 2021 and November 2024 were retrospectively collected,and and follow-up of postoperative endocrine and exocrine functions was performed.Based on the methods of digestive tract reconstruction adopted,the patients were divided into a conventional pancreaticojejunostomy group and a pancreatic duct-to-jejunum stent-bridging internal drainage group(PancreaticoJejunal-Stent bridge group).The operative time,digestive tract reconstruction time,and short-term complications were compared between the two groups.Results Among patients undergoing robotic central pancreatectomy,the digestive tract reconstruction time was shorter(t=5.168,P<0.001)in the PancreaticoJejunal-Stent bridge group([31.1±6.3]min)than that in the conventional pancreaticojejunostomy group([49.7±8.9]min)(t=5.168,P<0.001).The total operative time was(172.7±64.6)min in the PancreaticoJejunal-Stent bridge group and(200.1±52.7)min in the conventional pancreaticojejunostomy group,showing no statistically significant difference(t=1.215,P=0.235).In the PancreaticoJejunal-Stent bridge group,one patient developed a postoperative biochemical fistula,and 14 patients developed grade B pancreatic fistulas.Among the 14 patients with grade B pancreatic fistulas,1 case was complicated by fistula-related intra-abdominal infection,and 13 cases had drainage tube retention time of more than 21 days.In the conventional pancreaticojejunostomy group,2 patients developed postoperative biochemical fistulas,and 11 patients developed grade B pancreatic fistulas.Among the 11 patients with grade B pancreatic fistulas,1 case was complicated by fistula-related intra-abdominal infection,and 1 case was complicated by fistula-related intra-abdominal bleeding and infection.No postoperative gastroparesis,pancreatitis,or grade C pancreatic fistulas occurred in either group.There were no statistically significant differences between the two groups in overall postoperative complication rate(P=0.522),postoperative pancreatic fistula rate(P=0.583),intra-abdominal infection rate(P=0.583),or bleeding rate(P=0.464).Conclusion Pancreatic duct-to-jejunum stent-bridging internal drainage optimizes the anastomosis between the distal end of the pancreas and the jejunum during central pancreatectomy,shortens digestive tract reconstruction time,and reduces surgical complexity without increasing the risk of short-term severe postoperative complications.This approach is safe and feasible.

Objective To investigate the level of self-efficacy in peritoneal dialysis patients,and to ana-lyze its influencing factors.Methods The convenience sampling method was adopted.A total of 232 patients with peritoneal dialysis in the First Medical Center of PLA General Hospital from March 2022 to March 2023 were selected as the study subjects to conduct the status quo survey of chronic disease self-efficacy scale,social support scale,medical coping style questionnaire and patient positivity scale,and the results were analyzed.Re-sults The self-efficacy score of the patients with peritoneal dialysis(6.67±2.14)points,education level,fam-ily monthly income,working status,submission,social support,objective support,subjective support and pa-tient positivity were the main factors affecting the level of self-efficacy(P<0.05),explaining 64.4%of the variation amount.Self-efficacy was positively correlated with social support,facing and patient positivity(P<0.05),and negatively correlated with avoidance and submission(P<0.05).Conclusion The self-efficacy of peritoneal dialysis patients is generally at a low to medium level.Medical staff should pay more attention to it and improve it.

Objective To investigate and analyze the current situation of the construction of Smart Hospital in the dis-trict-level hospital of Beijing,and to provide reference for thedistrict-level hospitals to promote the construction of Smart Hospitals.Methods A questionnaire survey was conducted in Beijing district-level hospitals,and the construc-tion of Smart Hospital was analyzed by descriptive statistical analysis.Results The overall construction rate of Beijing district-level hospitals smart service business function was 50.98％,and the overall average construction rate of hos-pital smart management business function was 46.72％.93.75％hospitals thought that the investment in Smart Hos-pital construction was insufficient.The functions of smart service and management in different grades and categories of hospitals were different.Conclusion In order to promote the construction of Smart Hospital in Beijingdistrict-level hospitals,we should improve the top-level system such as strategic planning for the construction of smart hospi-tals,increase the investment in hospital informatization and talent teams,strengthen the standardization of intercon-nection between different hospitals,enhance the sharing and utilization of medical data and information,and strengthen the application of new hospital technologies and hospital information security.

OBJECTIVE:Prolonged sedentary behavior can acutely reduce peripheral and central vascular function,thereby increasing the risk of cardiovascular disease.Interrupting sedentary behavior may be a potential practical strategy to prevent vascular dysfunction caused by prolonged sitting.However,current research findings on its acute effects are inconsistent,and specific application recommendations have not yet been established.This study aims to perform a Meta-analysis on the acute effects of interrupting sedentary behavior on peripheral and central vascular function in adults and to explore its regulatory factors.METHODS:Following PRISMA reporting guidelines,literature search was conducted in March 2024 using the keywords of"interrupting,""sedentary,"and"vascular function"in the Web of Science Core Collection,PubMed,and China National Knowledge Infrastructure(CNKI)databases.Acute randomized crossover trials addressing the acute effects of interrupting sedentary behavior on peripheral and central vascular function in adults were included.Risk of Bias 2 developed by Cochrane was used to assess bias risk,and the Grading of Recommendations Assessment,Development,and Evaluation(GRADE)system was used to evaluate the evidence level.The"meta"and"metaphor"packages in R(version 4.2.0)were used for main effect aggregation(Hedge's g acted as the effect size indicator),publication bias testing,subgroup analysis,and regression analysis.RESULTS:Twenty-two randomized crossover trials involving 364 subjects(aged 21 to 70 years)were included.Meta-analysis results showed that compared with prolonged sitting,interrupting sedentary behavior acutely improved peripheral vascular blood flow volume(Hedge's g=0.48,95%confidence interval:0.14-0.82,P<0.01,I2=63%,low evidence level),shear stress(Hedge's g=0.65,95%confidence interval:0.37-0.93],P<0.01,I2=54%,moderate evidence level),and flow-mediated dilation(Hedge's g=0.43,95%confidence interval:0.15-0.72,P<0.01,I2=61%,moderate evidence level).Disease had a significant moderating effect on the main effect aggregation for blood flow volume(P=0.01 between subgroups),while the mode(P=0.01 between subgroups)and frequency(P=0.02 between subgroups)of interruptions had significant moderating effects on shear stress.Improvements in peripheral vascular shear stress from interrupting sedentary behavior were affected by age(β=-0.02,95%confidence interval:-0.03-0.01,P=0.09)and body mass index(β=-0.10,95%confidence interval:-0.18 to-0.02,P<0.01).Improvements in flow-mediated dilation were influenced by the total number of interruptions(β=-0.09,95%confidence interval:-0.17 to-0.01,P=0.03)and the duration of sitting during the control period(β=-0.21,95%confidence interval:-0.34 to-0.09,P<0.01).Each additional hour of sitting was associated with a 0.67%reduction in the acute improvement effect of flow-mediated dilation from interrupting sedentary behavior(P<0.01),and acute benefits disappeared when sitting control time exceeded 6 hours.A qualitative systematic review found that interrupting sedentary behavior did not significantly affect pulse wave velocity in various populations but could effectively prevent central vascular function decline in older adults due to prolonged sitting.CONCLUSION:Interrupting sedentary behavior acutely improves peripheral vascular blood flow volume(low evidence level),shear stress(moderate evidence level),and flow-mediated dilation(moderate evidence level)in adults and may prevent or protect against central vascular function decline in older adults due to prolonged sitting(very low evidence level).Characteristics of subjects(disease factors,sex,age,and body mass index),interruption intervention schemes(mode,frequency,total number of interruptions),and duration of sitting control all influence the acute improvement effects of interrupting sedentary behavior on vascular function.It is recommended that adults interrupt sedentary behavior with exercises involving large muscle groups,such as stair climbing,at high frequencies(e.g.,once every 40 minutes)with at least 5 minutes of moderate-to low-intensity activity each time,and limit the cumulative duration of prolonged sitting to no more than 6 hours per day.

OBJECTIVE:Prolonged sedentary behavior can acutely reduce peripheral and central vascular function,thereby increasing the risk of cardiovascular disease.Interrupting sedentary behavior may be a potential practical strategy to prevent vascular dysfunction caused by prolonged sitting.However,current research findings on its acute effects are inconsistent,and specific application recommendations have not yet been established.This study aims to perform a Meta-analysis on the acute effects of interrupting sedentary behavior on peripheral and central vascular function in adults and to explore its regulatory factors.METHODS:Following PRISMA reporting guidelines,literature search was conducted in March 2024 using the keywords of"interrupting,""sedentary,"and"vascular function"in the Web of Science Core Collection,PubMed,and China National Knowledge Infrastructure(CNKI)databases.Acute randomized crossover trials addressing the acute effects of interrupting sedentary behavior on peripheral and central vascular function in adults were included.Risk of Bias 2 developed by Cochrane was used to assess bias risk,and the Grading of Recommendations Assessment,Development,and Evaluation(GRADE)system was used to evaluate the evidence level.The"meta"and"metaphor"packages in R(version 4.2.0)were used for main effect aggregation(Hedge's g acted as the effect size indicator),publication bias testing,subgroup analysis,and regression analysis.RESULTS:Twenty-two randomized crossover trials involving 364 subjects(aged 21 to 70 years)were included.Meta-analysis results showed that compared with prolonged sitting,interrupting sedentary behavior acutely improved peripheral vascular blood flow volume(Hedge's g=0.48,95%confidence interval:0.14-0.82,P<0.01,I2=63%,low evidence level),shear stress(Hedge's g=0.65,95%confidence interval:0.37-0.93],P<0.01,I2=54%,moderate evidence level),and flow-mediated dilation(Hedge's g=0.43,95%confidence interval:0.15-0.72,P<0.01,I2=61%,moderate evidence level).Disease had a significant moderating effect on the main effect aggregation for blood flow volume(P=0.01 between subgroups),while the mode(P=0.01 between subgroups)and frequency(P=0.02 between subgroups)of interruptions had significant moderating effects on shear stress.Improvements in peripheral vascular shear stress from interrupting sedentary behavior were affected by age(β=-0.02,95%confidence interval:-0.03-0.01,P=0.09)and body mass index(β=-0.10,95%confidence interval:-0.18 to-0.02,P<0.01).Improvements in flow-mediated dilation were influenced by the total number of interruptions(β=-0.09,95%confidence interval:-0.17 to-0.01,P=0.03)and the duration of sitting during the control period(β=-0.21,95%confidence interval:-0.34 to-0.09,P<0.01).Each additional hour of sitting was associated with a 0.67%reduction in the acute improvement effect of flow-mediated dilation from interrupting sedentary behavior(P<0.01),and acute benefits disappeared when sitting control time exceeded 6 hours.A qualitative systematic review found that interrupting sedentary behavior did not significantly affect pulse wave velocity in various populations but could effectively prevent central vascular function decline in older adults due to prolonged sitting.CONCLUSION:Interrupting sedentary behavior acutely improves peripheral vascular blood flow volume(low evidence level),shear stress(moderate evidence level),and flow-mediated dilation(moderate evidence level)in adults and may prevent or protect against central vascular function decline in older adults due to prolonged sitting(very low evidence level).Characteristics of subjects(disease factors,sex,age,and body mass index),interruption intervention schemes(mode,frequency,total number of interruptions),and duration of sitting control all influence the acute improvement effects of interrupting sedentary behavior on vascular function.It is recommended that adults interrupt sedentary behavior with exercises involving large muscle groups,such as stair climbing,at high frequencies(e.g.,once every 40 minutes)with at least 5 minutes of moderate-to low-intensity activity each time,and limit the cumulative duration of prolonged sitting to no more than 6 hours per day.

Objective This study employs bibliometrics and visualization analysis techniques to systematically review and analyze the current status and evolutionary trends of research on Dysosma versipellis,both domestically and internationally.The discussion encompasses the current state of research on Dysosma versipellis as well as the latest hot topics in the field.Methods The literatures related to Dysosma versipellis and meeting the inclusion criteria were searched through China Knowledge Network(CNKI)and Web of science(WOS)databases,and the core author groups,cooperative relationships among research institutions and key words were analyzed by CiteSpace software.Results Eventually,1793 Chinese documents and 771 English documents were included.The author with the highest number of Chinese articles is Zeng Kang;The authors with the highest number of articles in English are Arora Rajesh;The number of articles published in China generally increases first and then decreases;The Shanghai Institute of Pharmaceutical Industry is the institution that studies Dysosma versipellis the most,and the exchanges and cooperation among institutions in the research field need to be further deepened.The keyword analysis shows that the research content of Dysosma versipellis mainly focuses on anti-tumor application,extraction and synthesis of derivatives.Conclusion At present,the extraction and synthesis of lignans and their related derivatives from Dysosma versipellis and their clinical application in the treatment of condyloma acuminatum and anti-tumor are the research hotspots of Dysosma versipellis.The toxicological mechanisms of damage caused by Dysosma versipellis and its active components,as well as potential therapeutic approaches,are expected to become a focal point of future research.

Objective:To explore the relationship between general demographic characteristics,inflammatory indicators,nutritional indicators,pathological data and lymph node metastasis in endometrial cancer(EC)pa-tients,and to construct and validate a model for preoperative prediction of lymph node status in endometrial canc-er patients.Methods:The preoperative clinical data of 473 patients with EC who underwent surgical treatment in the Zhu Jiang Hospital of Southern Medical University from January 2010 to April 2024 were retrospectively ana-lyzed.The independent risk factors of lymph node metastasis of endometrial cancer were screened by univariate and multivariate Logistic regression analyses,and the nomogram prediction model was constructed by R soft-ware.The performance of the model was evaluated by the receiver operating characteristic(ROC)curve,calibra-tion curve and clinical decision curve.Results:Menopausal status,high grade biopsy pathology,CA125 ≥24.47U/ml,systemic immune inflammatory index(SII)≥710.91,and prognostic nutritional index(PNI)＜52.90 were in-dependent risk factors for lymph node metastasis in endometrial cancer(OR＞1,P＜0.05).The nomogram model constructed based on these five factors had an AUC of 0.853 in the training set and 0.871 in the test set.The cali-bration curve fitted well,and the clinical decision curve shows a positive benefit.Conclusions:The endometrial cancer lymph node metastasis prediction model constructed based on menopausal status,biopsy pathology,CA125,SII,and PNI has good accuracy and fit,with certain clinical application value.