OBJECTIVE: To investigate the clinical phenotypes and genetic variant characteristics in children with epilepsy. METHODS: A total of 91 children with epilepsy admitted to the Women's and Children's Hospital Affiliated to Ningbo University from July 2021 to October 2022 were selected as the study subjects. Peripheral blood samples were collected from the children for whole exome sequencing. Candidate genetic variants were validated by Sanger sequencing and copy number variation sequencing (CNV-seq). The clinical phenotypes and treatment outcomes of the children with epilepsy were followed up, and an analysis of the relationship between genotype and phenotype was conducted. This study was approved by the Women's and Children's Hospital Affiliated to Ningbo University (Ethics No.: EC2020-048). RESULTS: Among the 91 children with epilepsy, 21 cases (23.08%, 21/91) were found to carry pathogenic or likely pathogenic variants. Of these, 18 cases had involved single base variant or insertional deletion, while 3 cases involved copy number variations. The gene with the highest detection rate was PRRT2 (38.10%, 8/21). Among the children with genetic variants, 47.62% (10/21) had onset during infancy, with 8 diagnosed with Benign familial infantile epilepsy (BFIE), 8 with Developmental epileptic encephalopathy (DEE), and 3 with Epileptic encephalopathy (EE). One case of Dravet syndrome (DS) and one case of Infantile spasms (IS) were also noted. The clinical manifestations of children were diverse and primarily included generalized tonic-clonic seizures and focal seizures. Among them, 52.38% (11/21) had exhibited cluster seizures, 23.81% (5/21) showed fever sensitivity, and 14.29% (3/21) experienced status epilepticus. After pharmacological treatment, 42.86% (9/21) of children had achieved complete seizure control, while 61.90% (13/21) had intellectual disability and 19.05% (4/21) had co-morbid autism spectrum disorder. CONCLUSION Pathogenic or likely pathogenic variants were identified in 23.08% of the pediatric epilepsy cases, with the PRRT2 gene being the most frequently involved. Among children carrying genetic variants, 47.62% had seizure onset during infancy. Genetic factors are an important cause of epilepsy, and early genetic testing may facilitate precise diagnosis, treatment, and prognostic evaluation.
Humans ; Female ; Male ; Epilepsy/genetics* ; Child, Preschool ; Child ; Phenotype ; Genotype ; DNA Copy Number Variations/genetics* ; Infant ; Membrane Proteins/genetics* ; Nerve Tissue Proteins/genetics* ; Adolescent ; Exome Sequencing

Objective:A two-sample bidirectional Mendelian randomization (MR) analysis was used to analyze the risk factors related to sunburn.Methods:Data were downloaded from the Gene-Wide Association Studies (GWAS) of the IEU Open GWAS project, and a two-sample bidirectional MR was conducted. In the forward MR analysis, the exposure factors were skin color, ease of skin tanning, skin pigmentation, facial aging, atopic dermatitis, contact dermatitis, urticaria, and education attainment, while the outcome factor was sunburn. In the reverse MR analysis, the exposure factor was sunburn, while the outcome factors were skin color, ease of skin tanning, skin pigmentation, facial aging, atopic dermatitis, contact dermatitis, urticaria, and education attainment. The data were analyzed using the "TwoSampleMR" package in R version 4.2.3. The result of the MR analysis were interpreted using the odds ratio ( OR) and the corresponding 95% confidence interval (95% CI), and a P-value <0.05 was considered statistically significant. In the analysis, we set a significance threshold of P-value<5×10 -8 (if sufficient instrumental variables cannot be obtained, the threshold will be adjusted to P-value<5×10 -6), eliminated linkage disequilibrium (with R2<0.001 and within a regional range of 10 000 kb), and screened single nucleotide polymorphisms (SNPs) that were significantly related to the research content, which would be set in the analysis as instrumental variables (IVs). For eligible IVs, a MR was conducted using the MR Egger, Weighted median, Inverse variance weighted (IVW), Simple mode, and Weighted mode method to explore the causal relationships between sunburn and various factors. The result obtained by the IVW method were taken as the main outcome indicator and summarized into a forest plot, while other method were used to supplement the IVW result. The heterogeneity of the IVs was evaluated by the Cochran Q-test. The direction of the causal effect and heterogeneity were evaluated through the scatter plot. The sensitivity of the result was analyzed by the leave-one-out test. The funnel plot was used to assess the potential bias. Results:9 851 867 SNPs related to skin color, 9 851 867 SNPs related to ease of skin tanning, 11 972 414 SNPs related to skin pigmentation, 9 851 867 SNPs related to facial aging, 16 121 213 SNPs related to atopic dermatitis, 24 191 078 SNPs related to contact dermatitis, 24 187 496 SNPs related to urticaria, 11 972 619 SNPs related to education attainment were obtained from the GWAS database. A total of 11 976 212 SNPs were obtained from the sunburn dataset. In the forward MR analysis, the IVW result showed a significant negative correlation between skin color and sunburn ( OR=0.68, 95% CI: 0.66-0.70, P<0.001); and a significant positive correlation between the ease of skin tanning, skin pigmentation, facial aging, atopic dermatitis, contact dermatitis, education attainment, and sunburn (ease of skin tanning: OR=1.30, 95% CI: 1.29-1.32, P<0.001; skin pigmentation: OR=1.76, 95% CI: 1.66-1.87, P<0.001; facial aging: OR=2.25, 95% CI: 1.67-3.04, P<0.001; atopic dermatitis: OR=1.02, 95% CI: 1.00-1.03, P=0.010; contact dermatitis: OR=1.01, 95% CI: 1.00-1.01, P=0.031; education attainment: OR=1.29, 95% CI: 1.22-1.36, P<0.001); while urticaria was not statistically significant ( P=0.056). The Cochran Q-test and scatter plot showed that there was a significant negative correlation between skin color and sunburn and a positive correlations between the ease of skin tanning, skin pigmentation, facial aging, atopic dermatitis, contact dermatitis, education attainment and sunburn. There was some heterogeneity among the IVs in research. The result of the leave-one-out test showed that no SNPs had a distinct impact on the causal effect, and the result of the forward MR analysis were relatively stable. The result of the funnel plot showed that the included SNPs were symmetrically distributed, and there was no potential bias in the result. In the reverse MR analysis, the IVW result showed a significant negative correlation between sunburn and skin color ( OR=0.16, 95% CI: 0.12-0.21, P<0.001); and a significant positive correlation between sunburn and ease of skin tanning, skin pigmentation, facial aging (ease of skin tanning: OR=26.78, 95% CI: 20.52-34.93, P<0.001; skin pigmentation: OR=3.12, 95% CI: 2.57-3.78, P<0.001; facial aging: OR=1.30, 95% CI: 1.24-1.37, P<0.001); while atopic dermatitis ( P=0.477), contact dermatitis ( P=0.318), urticaria ( P=0.328) and education attainment ( P=0.627) as outcome factors were not statistically significant. The Cochran Q-test and scatter plot showed that there was a significant negative correlation between sunburn and skin color and a positive correlations between sunburn and ease of skin tanning, skin pigmentation, facial aging. There was some heterogeneity among the IVs in research. The result of the leave-one-out test showed that no SNPs had a distinct impact on the causal effect, and the result of the reverse MR analysis were relatively stable. The result of the funnel plot showed that the included SNPs were symmetrically distributed, and there was no potential bias in the result . Conclusions:Skin color and sunburn are protective factors against each other; ease of skin tanning, skin pigmentation, and facial aging are bidirectional risk factors of sunburn; atopic dermatitis, contact dermatitis, and education attainment are risk factors of sunburn.

Objective To explore the feasibility and clinical value of endoscopic resection of duodenal papilla tumors with a maximum diameter greater than 3 cm. Methods A retrospective analysis was conducted on the clinical data of all 12 patients who underwent endoscopic resection of duodenal papilla tumors at the Endoscopy Center of Zhongshan Hospital (Xuhui Hospital), Fudan University and Rongcheng Hospital of Traditional Chinese Medicine from September 2017 to May 2023. The size of the tumors all exceeded 3 cm. Results All 12 patients successfully completed the operation, with a complete resection rate of 91.7% (11/12) and an en-bloc resection rate of 91.7% (11/12). One patient experienced delayed bleeding due to unclosed wound during operation and received endoscopic hemostasis; 11 cases underwent partial wound closure operation with pancreatic and biliary stent placement, without perforation or postoperative stenosis. Among them, 2 cases (18.2%) experienced delayed bleeding and received endoscopic hemostasis treatment. After operation, 1 case (8.3%) experienced nausea, vomiting, upper abdominal discomfort, and elevated blood amylase levels, who was later treated conservatively. During the mean follow-up period of 30.5 (1.0-69.0) months, 1 patient experienced recurrence and underwent surgical resection. Conclusions Endoscopic resection of duodenal papilla tumors can treat large diameter duodenal papilla tumors exceeding 3 cm, but postoperative complications may occur and require special attention. Postoperative placement of pancreatic and biliary stents and wound closure may reduce the incidence of complications.

Objective:To investigate the clinical phenotypes and genetic variant characteristics in children with epilepsy.Methods:A total of 91 children with epilepsy admitted to the Women′s and Children′s Hospital Affiliated to Ningbo University from July 2021 to October 2022 were selected as the study subjects. Peripheral blood samples were collected from the children for whole exome sequencing. Candidate genetic variants were validated by Sanger sequencing and copy number variation sequencing (CNV-seq). The clinical phenotypes and treatment outcomes of the children with epilepsy were followed up, and an analysis of the relationship between genotype and phenotype was conducted. This study was approved by the Women′s and Children′s Hospital Affiliated to Ningbo University (Ethics No.: EC2020-048).Results:Among the 91 children with epilepsy, 21 cases (23.08%, 21/91) were found to carry pathogenic or likely pathogenic variants. Of these, 18 cases had involved single base variant or insertional deletion, while 3 cases involved copy number variations. The gene with the highest detection rate was PRRT2 (38.10%, 8/21). Among the children with genetic variants, 47.62% (10/21) had onset during infancy, with 8 diagnosed with Benign familial infantile epilepsy (BFIE), 8 with Developmental epileptic encephalopathy (DEE), and 3 with Epileptic encephalopathy (EE). One case of Dravet syndrome (DS) and one case of Infantile spasms (IS) were also noted. The clinical manifestations of children were diverse and primarily included generalized tonic-clonic seizures and focal seizures. Among them, 52.38% (11/21) had exhibited cluster seizures, 23.81% (5/21) showed fever sensitivity, and 14.29% (3/21) experienced status epilepticus. After pharmacological treatment, 42.86% (9/21) of children had achieved complete seizure control, while 61.90% (13/21) had intellectual disability and 19.05% (4/21) had co-morbid autism spectrum disorder. Conclusion:Pathogenic or likely pathogenic variants were identified in 23.08% of the pediatric epilepsy cases, with the PRRT2 gene being the most frequently involved. Among children carrying genetic variants, 47.62% had seizure onset during infancy. Genetic factors are an important cause of epilepsy, and early genetic testing may facilitate precise diagnosis, treatment, and prognostic evaluation.

Objective To investigate the influencing factors of antibiotic-associated diarrhea(AAD)following congenital heart disease(CHD)surgery in pediatric patients,develop a nomogram-based predictive model,and validate its efficacy.Methods A retrospective analysis was conducted on the clinical data of pediatric patients who underwent CHD surgery in the Pediatric Intensive Care Unit(PICU)of a tertiary hospital in Guang-dong Province from July 2022 to July 2024.Patients were categorized into an AAD group and a non-AAD group.Univariate and multivariate logistic regression analyses were performed to identify risk factors for AAD occurrence following CHD surgery.A risk prediction model was developed,and a nomogram was constructed.The predictive performance of the model was evaluated using the Receiver Operating Characteristic(ROC)curve to calculate the area under the curve(AUC),the Hosmer-Lemeshow goodness-of-fit test,calibration curves,and clinical decision curve analysis.External validation of the model was conducted using data from patients in the Surgical Intensive Care Unit(SICU).Results The incidence of AAD following CHD surgery was 48.52%(229 out of 472 cases).Risk factors for AAD included the combined use of antibiotics,mechanical ventilation,elevated C-reactive protein levels,prolonged surgical duration,and extended antibiotic usage time(all with OR>1,P<0.05).Conversely,probiotic administration was identified as a protective factor(OR<1,P<0.05).The predictive model demon-strated excellent discrimination,as evidenced by the ROC curve areas:0.922(95%CI:0.894～0.951)in the modeling group,0.886(95%CI:0.838～0.915)in the internal validation group,and 0.862(95%CI:0.784～0.941)in the external validation group.Additionally,the model exhibited satisfactory calibration,as indicated by the Hosmer-Lemeshow test results:χ2=7.96,P=0.538 in the modeling group;χ2=4.24,P=0.895 in the inter-nal validation group;and χ2=9.923,P=0.270 in the external validation group.Furthermore,the model provided significant clinical utility.Conclusions Combined antibiotic use,duration of antibiotic therapy,mechanical ventilation,surgical duration,C-reactive protein(CRP)levels,and probiotic administration are key factors influ-encing the occurrence of AAD.The risk prediction model developed based on these variables demonstrates robust predictive performance and can serve as a valuable reference for the development and implementation of preventive and therapeutic strategies in clinical practice.

Objective:To analyze the risk factors for in-hospital malignant ventricular arrhythmia (MVA) in acute myocardial infarction (AMI) and to construct and validate a risk prediction model.Methods:This study was a retrospective cohort study. Patients aged≥18 years who were admitted to Qilu Hospital of Shandong University with a diagnosis of AMI and underwent coronary angiography (CAG) from May 2016 to March 2023 were selected, and the patients' clinical routine test indicators and CAG results were collected. Univariate and bidirectional stepwise logistic regression were used to screen out the risk factors for constructing the best prediction model. The prediction model was constructed by combining the results of multivariate logistic regression. The Hosmer-Lemeshow test and ROC curve, calibration curve, and decision curve were drawn to evaluate the model. The nomogram was drawn to visualize the model, and the Bootstrap self-sampling method was used for internal validation. The ROC curve was drawn to evaluate the predictive performance of each risk factor and prediction model. Finally, a multicollinearity test was performed.Results:Among the 4 205 patients finally included in the study, 115 patients (2.735%) developed MVA during hospitalization. The predictive factors screened out included age (X1), diastolic blood pressure (X2), respiratory rate (X3), blood glucose (X4), serum potassium (X5), logarithmic NT-proBNP (X6), myocardial infarction type (NSTEMI=X7, unclassified=X8), J wave (X9), Killip grade (Ⅱ=X10, Ⅲ=X11, Ⅳ=X12), and the regression equation was ln(p/1-p)=-4.699+0.029×X1-0.012×X2+0.059×X3+0.148×X4-1.175×X5+0.866×X6-1.427×X7-0.475×X8+0.758×X9+0.294×X10+0.902×X11+1.815×X12. The area under the ROC curve (AUC) of the model was 0.855 (95% CI: 0.816-0.894), and the Hosmer-Lemeshow test ( χ2=14.178, P=0.077) and the calibration curve showed that the predicted probability was consistent with the actual probability. The probability threshold of 0% to 65% had a better clinical net benefit. The area under the internal validation ROC curve (AUC) was 0.855, 95% CI: 0.813-0.891. The prediction performance of the nine variables was stronger than that of any single variable. There was no multicollinearity between the variables. Conclusions:Age, diastolic blood pressure, respiratory rate, blood glucose, serum potassium, NT-proBNP, type of AMI, J wave, and Killip class are forecasting indicator for in-hospital MVA in AMI. The risk prediction model based on the above factors has good predictive performance.

Objective:To assess the safety of a novel domestically developed direct visualization system of peroral cholangiopancreatoscopy for the exploration of biliary tract.Methods:Clinical data from 384 patients with biliary tract diseases who underwent endoscopic retrograde cholangiopancreatography (ERCP) at the Endoscopy Center of Shanghai Xuhui District Central Hospital from November 2017 to December 2022 were retrospectively analyzed. Patients were categorized into 2 groups based on the type of cholangioscope: the novel cholangiopancreatoscopy system group ( n=159) and the SpyGlass group ( n=225). In the novel cholangiopancreatoscopy system group, the new direct visualization system of China-made peroral cholangiopancreatoscopy was used for bile duct exploration, while the SpyGlass group utilized the SpyGlass system for bile duct inspection. Propensity score matching (PSM) was used as a nearest-neighbor method with a caliper of 0.01 to minimize confounding factors, resulting in a balanced sample of 122 patients in each group after matching. The primary outcome was the incidence of short-term complications, with secondary outcomes including technical success rates and post-treatment outcomes. Results:After PSM, there were no significant differences in baseline characteristics between the two groups ( P>0.05). Regarding short-term postoperative complications, pancreatitis occurred in 1.6% (2/122) of patients in the novel cholangiopancreatoscopy system group and 7.4% (9/122) in the SpyGlass group. The new system significantly reduced the incidence of post-procedure pancreatitis ( χ2=4.665, P=0.031). The cholecystitis was absent in the novel cholangiopancreatoscopy system group, while it occurred in 0.8% (1/122) cases in the SpyGlass group, with no significant difference between the two groups after the procedure ( P=1.000). Regarding technical success rate, the novel system group achieved a rate of 99.2% (121/122), while the SpyGlass group achieved 97.5% (119/122) ( P=0.622). A slightly higher success rate was observed in the novel system group.There were 81 cases of postoperative biliary drainage in the novel cholangiopancreatoscopy system group and 74 cases in the SpyGlass group. Conclusion:The novel direct visualization system of peroral cholangiopancreatoscopy is safer than SpyGlass in the exploration of biliary system diseases. Endoscopists are encouraged to choose the appropriate cholangioscopy system based on individual patient characteristics for the direct visualization, diagnosis, and treatment of biliary diseases.

Objective:To investigate the efficacy of transvaginal three-dimensional (3D)ultrasound in diagnosing different types of cervical adhesions and the relationship between relevant quantitative parameters and the degree of adhesion in patients.Methods:A cross-sectional study was conducted involving 112 patients with suspected intrauterine adhesions who were treated at Ankang Maternal and Child Health Hospital from August 2020 to September 2023. All patients underwent both two-dimensional (2D) and 3D ultrasound examinations. The diagnostic efficacy of the two imaging modalities for identifying intrauterine adhesions and different types of intrauterine adhesions was compared. Additionally, the relationship between transvaginal ultrasound parameters and the severity of intrauterine adhesions in patients was analyzed.Results:Among the 112 patients, 96 were diagnosed with intrauterine adhesions and 16 with non-adhesions through hysteroscopy. The sensitivity, specificity, and accuracy of transvaginal 3D ultrasound for diagnosing intrauterine adhesions were found to be 92.7%, 93.8%, and 92.9%, respectively. These values were significantly higher than those for transvaginal 2D ultrasound, which had sensitivity, specificity, and accuracy rates of 81.3%, 60.3%, and 78.6%, respectively ( χ2 = 5.57, 4.57, 9.33, all P < 0.05). When examining different types of intrauterine adhesions, the sensitivity (93.5%, 87.5%, and 84.6%), specificity (98.5%, 97.7%, and 96.5%), and accuracy (96.4%, 95.5%, and 93.8%) of 3D ultrasound for central, peripheral, and mixed types were all significantly higher than those of transvaginal 2D ultrasound (73.9%, 62.5%, and 53.9% for sensitivity; 89.4%, 89.8%, and 88.4% for specificity; and 83.0%, 83.9%, and 80.4% for accuracy) ( χ2 = 6.45, 4.00, 5.78, 4.79, 4.75, 4.08, 10.90, 8.19, 8.91, all P < 0.05). The vascularization blood flow index, vascularization index, and blood flow index for mild adhesions were (0.91 ± 0.11), (3.44 ± 0.41), and (23.94 ± 2.46), respectively. For moderate adhesions, these indices were (0.53 ± 0.06), (2.63 ± 0.31), and (20.14 ± 2.09), and for severe adhesions, they were (0.29 ± 0.04), (1.41 ± 0.17), and (18.01 ± 1.93). The differences among these groups were statistically significant ( F = 319.09, 180.36, 48.19, all P < 0.001). Conclusions:The diagnostic efficacy of transvaginal 3D ultrasound for intrauterine adhesions and the classification of these adhesions is superior to that of conventional transvaginal 2D ultrasound. Additionally, the relevant quantitative parameters are closely associated with the degree of intrauterine adhesions in patients.

Objective:To explore the current status of quality of life of rheumatoid arthritis (RA) patients and its influencing factors based on the health ecology model (HEM) , and to provide a scientific basis for the development of health education programs for RA patients.Methods:From November 2023 to April 2024, 230 RA patients in the Department of Rheumatology and Immunology, General Hospital of Ningxia Medical University, were selected for the study using convenience sampling method. Patients were surveyed using the General Information Questionnaire, Quality of Life Instruments for Chronic Diseases in RA (QLICD-RA) , Health Literacy Management Scale, Social Support Rate Scale, Brief Illness Perception Questionnaire, 8-item Morisky Medication Adherence Scale, Pain Catastrophizing Scale, Chronic Disease Self-Management Study Measures, Fear of Progression Questionnaire-Short Form, Tampa Scale for Kinesiophobia and Visual Analogue Scale. Pearson and Spearman correlation was used to analyze the correlation between quality of life and health literacy, social support, disease perception, self-management behaviors, fear of disease progression, fear of exercise, medication adherence, pain catastrophizing, and pain in RA patients. Multiple linear regression was used to analyze the factors influencing the quality of life of RA patients.Results:A total of 230 questionnaires were distributed and 228 valid questionnaires were recovered, with a valid recovery rate of 99.13% (228/230) . The total QLICD-RA score of 228 RA patients was (137.53±27.57) . Duration of disease, disease perception, pain, pain catastrophizing, self-management behavior, joint deformity, morning stiffness duration, gastrointestinal response, sleep, social support, and main economic sources were the factors influencing the quality of life of RA patients ( P<0.05) , explaining 83.6% of the total variance. Conclusions:The quality of life of RA patients is moderate, and its influencing factors are distributed at all levels of HEM. Healthcare professionals can optimize the health education program for the main influencing factors of each layer, focusing on guiding patients to correctly understand the disease, stimulating the subjective initiative of patients, enhancing the ability of patients to actively manage the disease, and improving the quality of life of patients.

Objective:To construct a sensitive quality index system for ophthalmic day surgery nursing.Methods:Based on the "structure-process-outcome" three-dimensional quality model, a preliminary screening of sensitive quality indicators for ophthalmic day surgery nursing was conducted through the literature review, survey of current situation, and group meeting. Purposive sampling was used to select 29 members of the expert pool of the Ophthalmology Nursing Committee of Chinese Nursing Association for two rounds of Delphi expert consultation from August to September 2023.Results:In the two rounds of expert consultation, 29 and 23 questionnaires were distributed respectively, and 23 and 21 valid questionnaires were recovered respectively, with effective recovery rates of 79.31% and 91.30% respectively. The expert authority coefficients were both 0.88. The Kendall's coefficient of concordance for the importance of indicators was 0.111 and 0.127, respectively (both P<0.01). The final formed sensitive quality index system for ophthalmic day surgery nursing included three primary indicators, nine secondary indicators, and 40 tertiary indicators. Conclusions:The sensitive quality index system for ophthalmic day surgery nursing constructed in this study is scientific, reliable, and practical, which can provide a reference for evaluating the quality of nursing in ophthalmic day surgery.