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 To construct a risk prediction model for the occurrence of calf muscle vein thrombosis(CMVT)in patients with spontaneous basal ganglia hemorrhage(sBGH)after surgery,and to verify the predictive effect of this model.Methods The surgical patients with sBGH who underwent neurosurgical procedures at the First People's Hospital of Huzhou(First Affiliated Hospital of Huzhou University)from January 2020 to December 2024 were enrolled as study subjects.A total of 345 patients were randomly divided into a modeling group(n=243)and a validation group(n=102).In the modeling group,patients were categorized into CMVT(n=72)and non-CMVT groups(n=171).Collected data included demographics[gender,age,body mass index(BMI)],laboratory indicators[D-dimer,activated partial thromboplastin time(APTT),fibrinogen(Fib),prothrombin time(PT),thrombin time(TT),hypersensitive C-reactive protein(hs-CRP)],and clinical data[hypertension,diabetes,smoking history,preoperative Glasgow coma scale(GCS),preoperative Caprini score,ventricular rupture,hemorrhage volume,surgical approach].Variables with statistical significance in univariate analysis were included in multivariate Logistic regression to identify CMVT risk factors and construct a nomogram model.Model fit was evaluated using the Hosmer-Lemeshow test,and predictive performance was assessed via receiver operator characteristic curve(ROC curve)analysis.Results The analysis of single factors showed that compared with the non-CMVT group,the proportion of male patients in CMVT group was significantly lower[63.9%(46/72)vs.77.8%(133/171)],while age,D-dimer,hs-CRP,Caprini score levels and bleeding volume were significantly higher[age(years):69.00(60.25,75.75)vs.55.00(67.00,74.00),D-dimer(mg/L):1.94(1.02,4.87)vs.0.89(0.48,1.74),hs-CRP(mg/L):21.94(7.50,55.87)vs.10.56(4.62,30.87),Caprini score:5(3,8)vs.3(2,5)].PT and TT were significantly prolonged[PT(s):13.10(12.10,14.13)vs.12.70(12.10,13.50),TT(s):15.25(14.23,16.06)vs.14.70(14.00,15.70)],the proportion of patients with hypertension,diabetes,ventricular rupture,and craniotomy was markedly increased[hypertension:70.8%(51/72)vs.43.9%(75/171),diabetes:25.0%(18/72)vs.7.0%(12/171),ventricular penetration:16.7%(12/72)vs.5.3%(9/171),craniotomy:59.7%(43/72)vs.35.7%(61/171)],GCS score significantly decreased[13(9,14)vs.15(13,15)].All differences were statistically significant(all P<0.05).The multivariate Logistic regression analysis showed that age[odds ratio(OR)=1.053,95%confidence interval(95%CI)was 1.018-1.090],D-dimer(OR=1.194,95%CI was 1.067-1.335),hypertension(OR=2.284,95%CI was 1.085-4.806),diabetes(OR=5.357,95%CI was 1.917-14.973),elevated preoperative Caprini score(OR=1.216,95%CI was 1.066-1.387),and craniotomy(OR=3.359,95%CI was 1.087-10.378)were all independent risk factors affecting the occurrence of CMVT in patients after sBGH(all P<0.05).The linear model was constructed using the aforementioned variables.The Hosmer-Lemeshow test results in the modeling group showedχ2=2.409,P=0.966,indicating good model fit where predicted values showed no significant difference from actual values.ROC curve analysis revealed an area under the curve(AUC)=0.846,95%CI was 0.792-0.899 for the validated model.When the optimal cut-off value was set at 0.538,the model achieved a sensitivity of 70.8%and specificity of 83.0%.In the validation set,the Hosmer-Lemeshow test showedχ2=11.300,P=0.185,indicating good model fit where predicted values showed no significant difference from actual values.ROC curve analysis demonstrated an AUC=0.893,95%CI was 0.832-0.955 for the validated model.At the optimal cut-off value of 0.674,the model achieved a sensitivity of 87.1%,specificity of 80.3%,and an accuracy of 82.4%.Conclusion The risk prediction model has good predictive performance and can provide reference for clinical evaluation of the risk of CMVT in patients with sBGH after surgery.

Objective To investigate the application of a 3-D printed femoral locator designed based on the modified quadrant method,combined with patient imaging data,then assist in femoral positioning for anterior cruciate ligament(ACL)reconstruction.Methods From January 2023 to January 2024,60 patients with primary ACL rupture who met the inclusion criteria were randomly assigned to either the 3-D printed guide group(using a 3-D printed femoral positioning guide to assist ACL reconstruction with nylon material)or the traditional surgery group(traditional surgery with direct visualization ACL reconstruction),with 30 patients in each group.Preoperative and postoperative knee CT scans and three-dimensional reconstructions were performed.The modified quadrant method was used to analyze and compare the percentage coordinates(Fx and Fy)of the femoral tunnel center point pre-and postoperatively within the same group and between different groups.Results The guides were made using nylon material.The surgery duration was significantly shorter in the 3D-printed guide group(53.8±6.0)min compared to the traditional surgery group(62.4±7.8)min,the difference was statistically significant(P＜0.05).Analysis using the modified quadrant method showed that the postoperative relative coordinate position percentages of the femoral tunnel center in the 3D-printed guide group(28.4±2.0)％and(35.5±2.3)％were not significantly different from the preoperative planned values(28.4±0.0)％and(35.7±0.0)％,the differences were not statistically significant(P＞0.05).Similarly,in the traditional surgery group,the postoperative coordinate percentages(28.1±2.9)％and(35.2±3.2)％showed no significant difference compared to the preoperative planned values(28.4±0.0)％and(35.7±0.0)％,the differences were not statistically significant(P＞0.05).There was no statistically significant difference in the postoperative femoral tunnel center position percentages between the two groups(P＞0.05).The Lysholm score and International Knee Documentation Committee(IKDC)score of the two groups showed an increasing trend after surgery,and the differences between Lysholm score and IKDC score at each time point were statistically significant(P＜0.05).However,no statistical differences were found between the two groups at each postoperative time point(P＞0.05).Conclusion Both intra-articular 3D-printed guide-assisted and traditional surgery-assisted femoral positioning for ACL reconstruction can achieve anatomical reconstruction,with no significant difference in bone tunnel positioning.However,the use of intra-articular 3D-printed guide technology has a more centralized distribution of the femoral tunnel center point and a shorter surgery duration.This study provides proof of concept for the creation of personalized femoral tunnel locators for patients undergoing ACL reconstruction.

Objective To investigate the application of a 3-D printed femoral locator designed based on the modified quadrant method,combined with patient imaging data,then assist in femoral positioning for anterior cruciate ligament(ACL)reconstruction.Methods From January 2023 to January 2024,60 patients with primary ACL rupture who met the inclusion criteria were randomly assigned to either the 3-D printed guide group(using a 3-D printed femoral positioning guide to assist ACL reconstruction with nylon material)or the traditional surgery group(traditional surgery with direct visualization ACL reconstruction),with 30 patients in each group.Preoperative and postoperative knee CT scans and three-dimensional reconstructions were performed.The modified quadrant method was used to analyze and compare the percentage coordinates(Fx and Fy)of the femoral tunnel center point pre-and postoperatively within the same group and between different groups.Results The guides were made using nylon material.The surgery duration was significantly shorter in the 3D-printed guide group(53.8±6.0)min compared to the traditional surgery group(62.4±7.8)min,the difference was statistically significant(P＜0.05).Analysis using the modified quadrant method showed that the postoperative relative coordinate position percentages of the femoral tunnel center in the 3D-printed guide group(28.4±2.0)％and(35.5±2.3)％were not significantly different from the preoperative planned values(28.4±0.0)％and(35.7±0.0)％,the differences were not statistically significant(P＞0.05).Similarly,in the traditional surgery group,the postoperative coordinate percentages(28.1±2.9)％and(35.2±3.2)％showed no significant difference compared to the preoperative planned values(28.4±0.0)％and(35.7±0.0)％,the differences were not statistically significant(P＞0.05).There was no statistically significant difference in the postoperative femoral tunnel center position percentages between the two groups(P＞0.05).The Lysholm score and International Knee Documentation Committee(IKDC)score of the two groups showed an increasing trend after surgery,and the differences between Lysholm score and IKDC score at each time point were statistically significant(P＜0.05).However,no statistical differences were found between the two groups at each postoperative time point(P＞0.05).Conclusion Both intra-articular 3D-printed guide-assisted and traditional surgery-assisted femoral positioning for ACL reconstruction can achieve anatomical reconstruction,with no significant difference in bone tunnel positioning.However,the use of intra-articular 3D-printed guide technology has a more centralized distribution of the femoral tunnel center point and a shorter surgery duration.This study provides proof of concept for the creation of personalized femoral tunnel locators for patients undergoing ACL reconstruction.

Objective To construct a risk prediction model for the occurrence of calf muscle vein thrombosis(CMVT)in patients with spontaneous basal ganglia hemorrhage(sBGH)after surgery,and to verify the predictive effect of this model.Methods The surgical patients with sBGH who underwent neurosurgical procedures at the First People's Hospital of Huzhou(First Affiliated Hospital of Huzhou University)from January 2020 to December 2024 were enrolled as study subjects.A total of 345 patients were randomly divided into a modeling group(n=243)and a validation group(n=102).In the modeling group,patients were categorized into CMVT(n=72)and non-CMVT groups(n=171).Collected data included demographics[gender,age,body mass index(BMI)],laboratory indicators[D-dimer,activated partial thromboplastin time(APTT),fibrinogen(Fib),prothrombin time(PT),thrombin time(TT),hypersensitive C-reactive protein(hs-CRP)],and clinical data[hypertension,diabetes,smoking history,preoperative Glasgow coma scale(GCS),preoperative Caprini score,ventricular rupture,hemorrhage volume,surgical approach].Variables with statistical significance in univariate analysis were included in multivariate Logistic regression to identify CMVT risk factors and construct a nomogram model.Model fit was evaluated using the Hosmer-Lemeshow test,and predictive performance was assessed via receiver operator characteristic curve(ROC curve)analysis.Results The analysis of single factors showed that compared with the non-CMVT group,the proportion of male patients in CMVT group was significantly lower[63.9%(46/72)vs.77.8%(133/171)],while age,D-dimer,hs-CRP,Caprini score levels and bleeding volume were significantly higher[age(years):69.00(60.25,75.75)vs.55.00(67.00,74.00),D-dimer(mg/L):1.94(1.02,4.87)vs.0.89(0.48,1.74),hs-CRP(mg/L):21.94(7.50,55.87)vs.10.56(4.62,30.87),Caprini score:5(3,8)vs.3(2,5)].PT and TT were significantly prolonged[PT(s):13.10(12.10,14.13)vs.12.70(12.10,13.50),TT(s):15.25(14.23,16.06)vs.14.70(14.00,15.70)],the proportion of patients with hypertension,diabetes,ventricular rupture,and craniotomy was markedly increased[hypertension:70.8%(51/72)vs.43.9%(75/171),diabetes:25.0%(18/72)vs.7.0%(12/171),ventricular penetration:16.7%(12/72)vs.5.3%(9/171),craniotomy:59.7%(43/72)vs.35.7%(61/171)],GCS score significantly decreased[13(9,14)vs.15(13,15)].All differences were statistically significant(all P<0.05).The multivariate Logistic regression analysis showed that age[odds ratio(OR)=1.053,95%confidence interval(95%CI)was 1.018-1.090],D-dimer(OR=1.194,95%CI was 1.067-1.335),hypertension(OR=2.284,95%CI was 1.085-4.806),diabetes(OR=5.357,95%CI was 1.917-14.973),elevated preoperative Caprini score(OR=1.216,95%CI was 1.066-1.387),and craniotomy(OR=3.359,95%CI was 1.087-10.378)were all independent risk factors affecting the occurrence of CMVT in patients after sBGH(all P<0.05).The linear model was constructed using the aforementioned variables.The Hosmer-Lemeshow test results in the modeling group showedχ2=2.409,P=0.966,indicating good model fit where predicted values showed no significant difference from actual values.ROC curve analysis revealed an area under the curve(AUC)=0.846,95%CI was 0.792-0.899 for the validated model.When the optimal cut-off value was set at 0.538,the model achieved a sensitivity of 70.8%and specificity of 83.0%.In the validation set,the Hosmer-Lemeshow test showedχ2=11.300,P=0.185,indicating good model fit where predicted values showed no significant difference from actual values.ROC curve analysis demonstrated an AUC=0.893,95%CI was 0.832-0.955 for the validated model.At the optimal cut-off value of 0.674,the model achieved a sensitivity of 87.1%,specificity of 80.3%,and an accuracy of 82.4%.Conclusion The risk prediction model has good predictive performance and can provide reference for clinical evaluation of the risk of CMVT in patients with sBGH after surgery.

OBJECTIVE: To investigate the clinical value of analgesia and sedation under bispectral index (BIS) monitoring combined with hydraulic coupled intracranial pressure (ICP) monitoring in severe craniocerebral injury (sTBI). METHODS: (1) A prospective self-controlled parallel control study was conducted. A total of 32 patients with sTBI after craniotomy admitted to the intensive care unit (ICU) of the First People's Hospital of Huzhou from December 2020 to July 2021 were selected as the research objects. ICP was monitored by Codman monitoring system and hydraulically coupled monitoring system, and the difference and correlation between them were compared. (2) A prospective randomized controlled study was conducted. A total of 108 sTBI patients admitted to the ICU of the First People's Hospital of Huzhou from August 2021 to August 2022 were selected patients were divided into 3 groups according to the random number table method. All patients were given routine treatment after brain surgery. On this basis, the ICP values of the patients in group A (35 cases) were monitored by Codman monitoring system, the ICP values of the patients in group B (40 cases) were monitored by hydraulic coupling monitoring system, and the ICP values of the patients in group C (33 cases) were monitored combined with hydraulic coupling monitoring system, and the analgesia and sedation were guided by BIS. The ICP after treatment, cerebrospinal fluid drainage time, ICP monitoring time, ICU stay time, complications and Glasgow outcome score (GOS) at 6 months after surgery were compared among the 3 groups. In addition, patients in group B and group C were further grouped according to the waveforms. If P₁ = P₂ wave or P₂ and P₃ wave were low, they were classified as compensatory group. If the round wave or P₂ > P₁ wave was defined as decompensated group, the GOS scores of the two groups at 6 months after operation were compared. RESULTS: (1) There was no significant difference in ICP values measured by Codman monitoring system and hydraulic coupling monitoring system in the same patient (mmHg: 11.94±1.76 vs. 11.88±1.90, t = 0.150, P = 0.882; 1 mmHg≈0.133 kPa). Blan-altman analysis showed that the 95% consistency limit (95%LoA) of ICP values measured by the two methods was -4.55 to 4.68 mmHg, and all points fell within 95%LoA, indicating that the two methods had a good correlation. (2) There were no significant differences in cerebrospinal fluid drainage time, ICP monitoring time, ICU stay time, and incidence of complications such as intracranial infection, intracranial rebleeding, traumatic hydrocephalus, cerebrospinal fluid leakage, and accidental extubation among the 3 groups of sTBI patients (P > 0.05 or P > 0.017). The ICP value of group C after treatment was significantly lower than that of group A and group B (mmHg: 20.94±2.37 vs. 25.86±3.15, 26.40±3.09, all P < 0.05), the incidence of pulmonary infection (9.1% vs. 45.7%, 42.5%), seizure (3.0% vs. 31.4%, 30.0%), reoperation (3.0% vs. 31.4%, 40.0%), and poor prognosis 6 months after operation (33.3% vs. 65.7%, 65.0%) were significantly lower than those in group A and group B (all P < 0.017). According to the hydraulic coupling waveform, GOS scores of 35 patients in the compensated group were significantly higher than those of 38 patients in the decompensated group 6 months after operation (4.03±1.18 vs. 2.39±1.50, t = 5.153, P < 0.001). CONCLUSIONS The hydraulic coupled intracranial pressure monitoring system has good accuracy and consistency in measuring ICP value, and it can better display ICP waveform changes than the traditional ICP monitoring method, and has better prediction value for prognosis evaluation, which can replace Codman monitoring to accurately guide clinical work. In addition, analgesia and sedation under BIS monitoring combined with hydraulic coupled ICP monitoring can effectively reduce ICP, reduce the incidence of complications, and improve the prognosis, which has high clinical application value.
Humans ; Intracranial Pressure ; Prospective Studies ; Monitoring, Physiologic/methods* ; Craniocerebral Trauma ; Analgesia ; Cerebrospinal Fluid Leak

Metabolic regulation has been proven to play a critical role in T cell antitumor immunity. However, cholesterol metabolism as a key component of this regulation remains largely unexplored. Herein, we found that the low-density lipoprotein receptor (LDLR), which has been previously identified as a transporter for cholesterol, plays a pivotal role in regulating CD8

Background Formaldehyde is a common air pollutant in residential buildings, and the health risks caused by formaldehyde in residential buildings can not be ignored. Objective This study aims to evaluate the air concentration of formaldehyde in non-newly decorated houses in Ningbo and its possible health risks. Methods A total of 72 houses without any decoration in the past one year in Ningbo were selected by multi-stage random sampling method. From July 2018 to January 2019, the air samples of living rooms and bedrooms were collected and their temperature and humidity were also measured. The concentrations of formaldehyde were detected by AHMT method according to Standred method for hygienic examination of formaldehyde in air of residential areas — Spectrophotometric method (GB/T 16129—1995) , the health risk assessment model of U.S. Environmental Protection Agency was used to evaluate the non-carcinogenic risk and carcinogenic risk of formaldehyde, and Monte Carlo simulation was used for sensitivity analysis. Results The median (P₂₅, P₇₅) of formaldehyde concentration in the 72 houses was 0.019 (0.012,0.026) mg·m⁻³. Only one house showed a formaldehyde concentration that exceeded the national standard in the living room, and the total qualified rate of formaldehyde concentration was 98.61%. The median (P₂₅, P₇₅) of formaldehyde concentration in the bedroom was 0.019 (0.011, 0.031) mg·m⁻³, which was higher than that in the living room, 0.015 (0.010, 0.024) mg·m⁻³, and the difference was statistically significant. The median and 90th percentile of non-cancer risk (hazard quotient, HQ) of the 72 houses were 1.35 and 2.80, respectively, and the proportion of the houses with HQ>1 was 62.50%. The median and 90th percentile of cancer risk (CR) of the 72 houses were 1.12×10⁻⁴ and 2.32×10⁻⁴, respectively, and the proportions of the houses with CR>1×10⁻⁶, CR>1×10⁻⁵, and CR>1×10⁻⁴ were 100.00%, 100.00%, and 54.20%, respectively. After using Monte Carlo simulation, the median (90th percentile) of non-carcinogenic risk was reduced to 0.91 (1.94), where the median was lower than the national limit, and the proportion of samples with HQ>1 was 44.73%; the carcinogenic risk was reduced to 7.52×10⁻⁵ (1.79×10⁻⁴), and the proportions of samples with CR>1×10⁻⁶, CR>1×10⁻⁵, and CR>1×10⁻⁴ were 100.00%, 98.96%, and 34.37%, respectively. Conclusion The concentration of formaldehyde in non-newly decorated houses in Ningbo basically meets the national requirements, but it is still necessary to pay attention to the non-carcinogenic risk and carcinogenic risk caused by indoor formaldehyde, among which the carcinogenic risk is more important. Residents should prevent the harm of formaldehyde from its source by considering clean decoration materials and environmentally friendly furniture.

Objective:To investigate the application value of pre-suture craniotomy combined with intracranial pressure monitoring in surgery for posttraumatic acute diffuse brain swelling (PADBS).Methods:One hundred and fifty-seven patients with PADBS admitted to our hospital from February 2015 to December 2019 were chosen in our study; 68 patients (control group), admitted to our hospital from February 2015 to June 2017, underwent controlled decompression under intracranial pressure monitoring; and 89 patients (treatment group), admitted to our hospital from June 2017 to December 2019, were performed pre-suture craniotomy combined with controlled decompression under intracranial pressure monitoring. The craniotomy time, brain tissue exposure time, cranial closure time, incidence of acute encephalocele, and Glasgow outcome scale (GOS) scores at 6 months after injury were retrospectively analyzed and compared between the two groups.Results:As compared with those in the control group, the patients in the treatment group had significantly longer intraoperative craniotomy time ([19.2±1.6] min vs. [15.4±1.4] min), significantly shorter exposure time of brain tissues ([18.5±2.4] min vs. [26.3±2.2] min), significantly shorter time of cranial closure ([11.2±1.5] min vs. [18.3±2.1] min), and statistically lower incidence of acute encephalocele (22.5% vs. 38.2%), P<0.05). The good prognosis rate of the treatment group (70.8%) was significantly higher than that of the control group (50.0%), and the mortality rate (6.7%) was statistically lower than that of the control group (17.6%, P<0.05). Conclusion:Pre-suture craniotomy combined with controlled decompression under intracranial pressure monitoring can shorten the time of cranial closure and brain tissue exposure, reduce the incidence of acute encephalocele, and ultimately improve the prognosis of patients with posttraumatic acute diffuse brain swelling.