A retrospective analysis was made on the clinical data and gene mutation characteristics of 2 children admitted to the Children′s Hospital of Zhejiang University School of Medicine for epilepsy without periventricular nodules caused by the ARF1 gene mutation from August 2023 to February 2024, and relevant literature was reviewed.Both patients presented with seizures and psychomotor retardation, and 1 of them was diagnosed with West syndrome.Whole exome sequencing confirmed that the 2 patients carried a missense mutation in the ARF1 gene (c.55C>A, p.R19S).Brain magnetic resonance imaging (MRI) of 2 patients revealed no obvious abnormalities.A summary analysis of 5 cases of ARF1 gene mutations reported in three foreign literatures showed that patients with ARF1 gene mutations usually presented with seizures, developmental delay, hypotonia, mental retardation, and motor stereotypies.MRI showed periventricular nodular heterotopia, corpus callosum dysplasia, subcortical white matter abnormalities, and delayed myelination.This study found for the first time that ARF1-related disorders can occur without significant brain structural malformations, indicating that there are inconsistencies in neuroimaging findings, adding valuable phenotypic information to this gene.The differences in imaging findings may be the result of genetic background or variation in ARF1-interacting proteins, or may be caused by altered regulatory mechanisms of protein activity.

Objective:To investigate the clinical effect of 3D printing combined with O-arm navigation assisted posterior hemivertebrae resection and orthopedic fixation in the treatment of congenital cervicothoracic scoliosis.Methods:A retrospective study was conducted on the clinical data of 14 patients with congenital cervicothoracic kyphosis caused by hemivertebra treated in Henan Provincial People's Hospital from January 2015 to June 2021, including 9 males and 5 females, aged 8.9±3.2 years (range, 1-15 years). Operation time, intraoperative blood loss and fusion stage were recorded. Intraoperative O-arm scanning and postoperative CT scanning were performed to evaluate the accuracy of nail placement. The cervicothoracic scoliosis Cobb angle, compensatory scoliosis Cobb angle, local kyphosis Cobb angle, torticollis angle, T 1 tilt angle and clavicular angle were measured before operation, model design, 1 week after operation and at the last follow-up to evaluate the effect of surgical design, intraoperative orthosis and the correction loss at follow-up. The Society for Scoliosis Research-22 (SRS-22) questionnaire was used to evaluate the functional and treatment effect. At the last follow-up, the osteotomy fusion was evaluated by Eck criterion. Results:All patients successfully completed the operation, the operation time was 228.5±41.8 min, the intraoperative blood loss was 355.6±46.7 ml, and the number of fusion segments was 5.5±0.8. Follow-up duration was 35.5±13.2 months. A total of 140 pedicle screws were inserted, with an accuracy of 97.1% (136/140). The Cobb angle of cervicothoracic scoliosis was 53.9°±17.9° preoperatively, 11.3°±4.4° in the model design, 10.8°±2.6° one week postoperatively, and 14.5°±3.5° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 78.6%±6.7%. The Cobb angle of compensatory scoliosis was 33.1°±12.1° before surgery, 11.9°±2.4° for model design, 10.5°±3.4° for one week after surgery, and 14.1°±2.5° for the last follow-up, with statistically significant differences ( P<0.001). The postoperative correction rate was 65.2%±16.2%. The Cobb angle of local kyphosis was 27.8°±9.8° preoperatively, 10.1°±2.1° in the model design, 9.8°±1.9° one week postoperatively, and 12.7°±1.6° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 59.2%±18.9%. The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 78.6%±6.7%. The neck tilt angle was 20.6°±6.7° preoperatively, 6.2°±1.9° in the model design, 5.9°±2.1° one week postoperatively, and 7.1°±1.4° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 70.0%±11.1%. The T 1 inclination angle was 20.2°±5.8° preoperatively, 11.5°±3.1° in the model design, 10.2°±2.3° one week postoperatively, and 9.5°±3.0° at the last follow-up, with statistical significance ( P<0.001). The preoperative and postoperative one week difference was statistically significant ( P<0.001) with a correction rate of 53.2%±10.4%. There was no significant difference between preoperative design and actual measurement one week after surgery ( P>0.05). At the last follow-up, the scores of self-image (4.6±0.7), mental health (4.7±0.6) and treatment satisfaction (4.6±0.6)in SRS-22 scale were significantly improved compared with those before operation ( P<0.05). The symptoms of hemivertebra ipilateral C 8 nerve root injury occurred in 1 patient, who was treated conservatively with dehydration, hormones and nutraceutical drugs, and recovered to normal at 3 months follow-up. At the last follow-up, the appearance of the head, neck and shoulders of the patients was improved compared with that before surgery, the bone grafts have achieved osseous fusion in all patients. All fusion were grade I by Eck criterion. No complications such as serious neurological or vascular injury occurred during perioperative period. No pseudoarthrosis formation, internal fixation loosening or fracture occurred during follow-up. Conclusion:The application of 3D printing combined with O-arm navigation assistance technology in posterior hemivertebra resection and correctional surgery for cervicothoracic hemivertebra deformities can display the deformities in advance, stereoscopic and real-time, accurately place pedicle screws and complete hemivertebra resection, improve surgical safety and deformity correction rate.

Objective:To investigate the clinical efficacy of satellite rod revision surgery via a combined anterior and posterior approach for rod fracture after posterior vertebral column resection (PVCR) in patients with severe thoracolumbar kyphosis.Methods:A retrospective case series study was conducted on the clinical data of 11 patients with rod fracture after PVCR for severe thoracolumbar kyphosis, who were treated in Henan Provincial People′s Hospital from January 2013 to January 2021. There were 6 males and 5 females, with the age range of 21-62 years [(35.4±13.0)years]. Among them, 4 patients had traumatic kyphosis, 4 presented congenital kyphosis and 3 showed tuberculous kyphosis. All the patients had obvious low back pain. According to the American Spinal Injury Association (ASIA) score, 2 patients were found with grade C, 2 with grade D and 7 with grade E. All the patients underwent revision surgery for internal fixation using satellite rod via a combined anterior and posterior approach. The operation time, intraoperative blood loss and postoperative hospital stay were recorded. The imaging parameters such as kyphosis Cobb angle, scoliosis Cobb angle, distance between C 7 plumb line and central sacral vertical line (C 7-CSVL), and distance between C 7 plumb line and sagittal vertical axis (SVA) were measured preoperatively, at 1 week postoperatively and at latest follow-up. At the same time, the visual analogue scale (VAS), Oswestry dysfunction index (ODI), and simplified Chinese version of the scoliosis research society-22 (SRS-22) questionnaire were used to evaluate the clinical efficacy. At the latest follow-up, the osteotomy fusion was evaluated by Suk criterion and ASIA score was used to evaluate the recovery of neurological function. The complications were also recorded for the patients. Results:All the patients were followed up for 24-84 months [(47.5±16.2)months]. The operation time was 100-220 minutes [(149.4±37.6)minutes], with the intraoperative blood loss of 150-350 ml [(246.3±64.6)ml] and the postoperative hospital stay of 5-8 days [(6.1±1.1)days]. The kyphosis Cobb angles [(18.5±3.2)° and (19.3±2.9)°] and the scoliosis Cobb angles [(11.8±2.2)°, (11.1±2.2)°] at 1 week post-operation and at the latest follow-up were all improved significantly compared with the preoperative ones [(60.4±6.3)°, (21.7±5.5)°] (all P<0.01), with the average correction rates being 69.4% and 45.6%, respectively, with no significant differences between 1 week post-operation and latest follow-up (all P>0.05). The C 7-CSVL was reduced from preoperative (21.2±4.3)mm to (15.7±2.4)mm at 1 week post-operation, and to (15.9±2.2)mm at the latest follow-up (all P<0.01). The SVA was improved from preoperative (51.0±6.8)mm to (16.6±3.6)mm at 1 week post-operation, and to (15.3±3.9)mm at the latest follow-up (all P<0.01). There were no significant differences in C 7-CSVL or SVA at 1 week post-operation or at the latest follow-up (all P>0.05). The VAS [(2.5±0.9)points, (1.9±0.9)points], ODI (20.1±5.4, 18.4±5.2) and SRS-22 [(83.4±5.8)points, (85.0±4.1)points] at 1 week post-operation and at the latest follow-up were significantly improved compared with the preoperative ones [(6.0±1.4)points, 57.2±8.7, (62.0±9.1)points] (all P<0.01), but no significant differences were found between 1 week post-operation and latest follow-up (all P>0.05). At the latest follow-up, the bone grafts achieved osseous fusion in all the patients, and the ASIA grade was improved from grade C to grade D in 2 patients and from grade D to grade E in 2 patients. No complications such as serious neurological or vascular injury occurred during perioperative period. No pseudoarthrosis formation, internal fixation loosening or fracture occurred during follow-up. Conclusion:Satellite rod revision surgery via a combined anterior and posterior approach for rod fracture after PVCR in patients with severe thoracolumbar kyphosis has the advantages of less trauma and faster convalescence, excellent results of deformity correction, significant pain relief, functional improvement, and fewer complications.

Objective:To explore the clinical effect of the 3D printing pre-installed screw channel model in assisting screw placement of single complete segmented congenital hemivertebrectomy.Methods:Clinical data of 13 children treated with single complete segmented congenital hemivertebrectomy in the Department of Spine and Spinal Surgery of Henan Provincial People′s Hospital from August 2016 to January 2019 were retrospectively analyzed.Among them, there were 5 males and 8 females with the mean age of 9.9 (5-14) years.Categorized by the lesion location, 3 cases were located at T 9, 2 cases at T 10, 5 cases at T 11, 1 case at T 12, and 2 cases at L 1.During the operation, the 3D printing pre-installed screw channel model was used to assist the placement of pedicle screws.The accuracy of screw placement was assessed by the postoperative CT.All children were routinely examined by full-length anterior and lateral X-ray of spine in the standing position before and after surgery to measure the Cobb angles at the coronal and sagittal view.Furthermore, the correction rate of scoliosis and kyphosis after surgery and during follow-up was also calculated.The One-Way repeated measures ANOVA was used to compare the Cobb angle of scoliosis and kyphosis before surgery, after surgery and during follow-up. Results:A total of 85 pedicle screws were placed in 13 children, with the accuracy rate of screw placement of 95.3%.The mean surgery time and intraoperative blood loss were (216.9±28.3) min, and (478.5±132.6) mL, respectively.Scoliosis Cobb was corrected from (57.1±12.7)° to (12.7±4.7)° with a correction rate of (78.4±5.9)%, which was (14.2±7.0)° at the last follow-up.Kyphosis angle was corrected from (46.2±8.4)° to (13.2±4.4)° with a correction rate of (72.6±7.0)%, which was (14.0±3.4)° at the last follow-up.None of the children had serious complications like vascular and nerve damage.The mean postoperative follow-up was 12.3 (6-18) months.No significant loss of angle was detected during the follow-up period.There were significant differences in the lateral and kyphotic angles after surgery and during follow-up compared with preoperative ones (all P<0.05). No significant difference was detected between the postoperative lateral and kyphotic angles and those at the last follow-up (all P>0.05). Conclusion:The 3D printing pre-installed screw channel model used to assist screw placement of single complete segmented congenital hemivertebrectomy can improve the precision of screw placement and the orthopedic effect on lateral kyphosis.

Objective:To explore the accuracy and repeatability of the smartphone scoliosis screening APP developed by our team in the measurement of the Cobb angle of adolescent idiopathic scoliosis (AIS).Methods:Clinical data of 60 patients with AIS admitted to Department of Spine and Spinal Surgery, Henan Province People′s Hospital from August 2020 to February 2021 were analyzed retrospectively.Three surveyors measured the coronal main curvature Cobb angle, sagittal thoracic kyphosis (TK) angle, thoracolumbar kyphosis (TLK) angle and lumbar kyphosis (LL) angle on whole-spine lateral X-ray films of 60 patients with AIS by means of the protractor, scoliosis screening APP and computerized Picture Archiving and Communication System (PACS). The time and results of each measurement were recorded.The measurement was repeated once after 2 weeks.Paired t-test was used to compare the measurement time of the APP method and the protractor method.Taking the Cobb angle measurement results of the PACS system as the reference standard, the accuracy of Cobb angle measurement by the APP method was analyzed by paired t-test.The repeatability of the surveyor and the consistency between the surveyors was compared by intraclass correlation coefficient (ICC). Results:Among the 60 patients with AIS, there were 17 males and 43 females, aged from 10 to 16 years [(12.2±2.4) years]. The main bends were thoracic curvature (Lenke Ⅰ) in 23 cases, Lenke Ⅱ in 18 cases and thoracolumbar curvature/lumbar curvature (Lenke V) in 19 cases.The APP method took significantly less time to measure the Cobb angle than the protractor method ( P<0.05). There was no significant difference in the Cobb angle measured by the APP method and PACS method ( P>0.05). The results of the coronal main curvature Cobb angle, TK angle, TLK angle and LL angle measured by 3 surveyors through the APP method were all in good agreement (ICC=0.990, 0.988, 0.986, 0.987). The repeatability (ICC 0.973-0.982) of the coronal main curvature Cobb angle, TK, TLK and LL measured twice before and after the APP method were both better that of the protractor method (ICC 0.933-0.954). Conclusions:Compared with the traditional protractor, the smartphone scoliosis screening APP has the advantages of short measurement time, high efficiency, excellent accuracy and good repeatability in measuring the Cobb angle of AIS.

The clinical data of a case with late-onset isolated sulfite oxidase deficiency(ISOD)admitted in the Department of Neurology, Children′s Hospital, Zhejiang University School of Medicine in July 2021 were retrospectively analyzed.Fifteen previously published cases of late-onset ISOD were also reviewed.The patient was a girl, who was hospitalized because of " motor regression with mental retardation for 5 days" at 1 year old.The manifestations of the patient were extrapyramidal symptoms, regression of motor development and seizures.The level of urinary sulfites in the patient was increased.Magnetic resonance imaging (MRI) features were bilateral pallidus and substantia nigra.Gene sequencing suggested a pure missense mutation of the sulfite oxidase( SUOX) gene c. 650(exon5)G>A(p.Arg217Gln). In 16 cases of late-onset ISOD, the median age at onset and diagnosis was 10.5 months and 34.0 months, respectively.The common clinical manifestations were hypotonia (13 cases), seizures (10 cases), movement disorders (9 cases), and ectopia lentis (6 cases). The most common brain MRI feature was pallidus changes (11 cases), followed by lesions of substantia nigra (5 cases), and cerebral atrophy (4 cases). Fourteen cases of late-onset ISOD showed a positive urinary sulfite test.The missense mutation of the SUOX gene was found in 9 cases.It suggested that brain MRI involvement of bilateral pallidus, high excretion of urine sulfites and the missense mutation of the SUOX gene were important diagnostic clues for late-onset ISOD.

Objective:To analyze the postoperative paravertebral muscle degeneration and its correlations with health related quality of life (HRQL) in patients undergoing minimally invasive surgery-transforaminal lumbar interbody fusion (MIS-TLIF).Methods:The clinical data of the 50 patients were retrospectively analyzed who had undergone single-segmental MIS-TLIF at Department of Spinal Cord Surgery, The People's Hospital of Henan Province from January 2019 to December 2021. The relative volumes of lumbar posterior muscle (LM), the relative volumes of the psoas major (PM), and the rates of fatty degeneration (FD) of the fused segment and its adjacent segments were compared respectively between preoperation, 6 and 12 months postoperation. The correlations were analyzed between the HRQL scores [visual analog scale (VAS) for pain and Oswestry disability index (ODI)] and the relative LM volumes, the relative PM volumes, and the FD rates of the fused segment and its adjacent segments at 12 months postoperation.Results:Compared with the preoperative values, the relative LM volumes and the relative PM volumes of the fused segment and its adjacent segments at 6 and 12 months postoperation were significantly reduced while the FD rates significantly increased. However, the FD rate of the fused segment at 12 months postoperation (20.6% ± 6.1%) was significantly lower than that at 6 months postoperation (29.7% ± 8.2%) ( P < 0.05). The VAS score was strongly negatively or positively correlated with the relative LM volume ( r = -0.819, P < 0.001) and the FD rate ( r = 0.86, P < 0.001) of the fused segment, and moderately negatively correlated with the relative PM volume ( r = -0.435, P = 0.016). The ODI index was moderately negatively correlated with the relative LM volume ( r = -0.512, P = 0.004) and the relative PM volume ( r = -0.402, P = 0.020) of the fused segment, but moderately positively correlated with the FD rate of the fused segment ( r = 0.565, P = 0.001). There was a moderate negative correlation between the ODI index and the relative LM volume of the adjacent segments ( r = -0.478, P = 0.012). Conclusions:After MIS-TLIF, the volume of the paravertebral muscles decreases and the dorsal muscles develop fatty degeneration. The improvement of LM fatty degeneration may be observed by 12-month follow-up in the fused segment, but not in the adjacent segments. The LM volume and the FD rate of the fused segment are the most closely related to the postoperative HRQL.

Objective:To explore the effects of sulforaphane (SFN), an activator of Nrf2, on anxiety and fear memory in Alzheimer's disease(AD) model mice and mechanism.Methods:The AD mice and wild type (WT) mice with the same background were randomly divided into four groups ( n=12 for each group): wild type + normal saline group (WT+ NS), wild type + sulforaphane (WT+ SFN), AD model + normal saline group (AD+ NS) and AD model + sulforaphane group (AD+ SFN). SFN was dissolved in normal saline (0.9% NaCl) and prepared solution with concentration of 1 g/L.According to body weight, mice in WT+ SFN group and AD+ SFN group were intraperitoneally injected with SFN (10 mg/kg), and mice in WT+ NS group and AD+ NS group were intraperitoneally injected with the same volume of normal saline once a day for 30 days.The open field test was used to detect the autonomous exploration ability and anxious behavior of mice.The elevated cross maze was used to detect the anxiety of mice.Conditional fear test was used to test the fear memory behavior of mice.Finally, the expression of superoxide dismutase(SOD) and malondialdehyde(MDA) in the hippocampus and cerebral cortex were detected by ELISA.Two-way ANOVA analysis was performed using GraphPad Prism 8.0.2 software. Results:In the open field test, the percentage of time in central region in AD+ SFN group ((9.99+ 0.37)%) was higher than that of AD+ NS group ((8.47+ 0.42)%) ( q=3.842, P<0.05). In the elevated cross maze, the percentage of time in open arm of AD+ SFN group ((26.2±1.6)%) was higher than that in AD+ NS group ((15.8±1.0)%) ( q=7.452, P<0.01). In the conditional fear test, all the mice of the four groups developed the fear memory, but AD+ SFN group showed higher freezing time ratio ((64.5±3.8)%) than AD+ NS group ((51.0±4.3)%)( q=5.266, P<0.01) in the testing stage.After SFN intervention, the important indicator of oxidative stress, the expression levels of SOD in hippocampus ( q=6.370, P<0.01) and cortex ( q=7.858, P<0.01) of AD mice increased, while the level of MDA in hippocampus ( q=5.146, P<0.05) and cortex ( q=5.833, P<0.01) decreased. Conclusion:SFN may inhibit oxidative stress through Nrf2 pathway, thereby improving anxiety and fear memory in AD mice.

OBJECTIVE：To in vestigate the effects of dexmedetomidine （Dex）on SIRT 1/Akt/GSK3β/β-catenin signaling pathway in cerebral injury of sepsis model rats ，and explore the mechanism of its protecitve effect on cerebral injury. METHODS ： A total of 80 male SD rats were randomly divided into sham operation group （Sham group ），sepsis group （CLP group ），CLP+Dex group（10 μg/kg Dex），CLP+Dex+Sirtinol group （10 μg/kg Dex+2 μL/100 g SIRT 1 inhibitor sirtinol ），with 20 mice in each group. Two hours before modeling ，CLP+Dex+Sirtinol group was injected with sirtinol via lateral ventricle. Sepsis model was induced by cecal ligation and perforation in each group （in sham group ，only operation was performed but no ligation was performed）. At 0，3，6 h after modeling ，CLP+Dex group and CLP+Dex+Sirtinol group were given Dex （10 μg/kg） intraperitoneally，Sham group and CLP group were given constant volume of normal saline intraperitoneally. Cerebral tissue water content，Evans blue （EB）content，apoptosis in cerebral cortex ，the levels of IL- 1β and TNF-α in cerebral tissue as well as the protein expression of SIRT 1，p-Akt，p-GSK3β and β-catenin in hippocampus were detected 24 h after last medication. RESULTS ： Compared with Sham group ，cerebral tissue water content ，EB content ，the number of apoptotic cells in cerebral cortex as well as the levels of IL- 1β and TNF-α in cerebral tissue were increased significantly（P＜0.05），while the protein expression of SIRT 1， p-Akt，p-GSK3β and β-catenin in hippocampus were decreased significantly （P＜0.05）. Compared with CLP group ，cerebral tissue water content ，EB content ，the number of apoptotic cells in cerebral cortex as well as the levels of IL- 1β and TNF-α in cerebral tissue were decreased significantly in CLP+Dex group （P＜0.05），while the protein expression of SIRT 1，p-Akt，p-GSK3β and β-catenin in hippocampus were increased significantly （P＜0.05）. Sirtinol could significantly reverse the above-mentioned cerebral protection and factor regulation effects of Dex （P＜0.05）. CONCLUSIONS ：Dex can protect the cerebral tissue of sepsis model rats，which may play an anti-inflammatory and anti-apoptotic role by activating SIRT 1/Akt/GSK3β/β-catenin signaling pathway ，so as to reduce cerebral edema ，protect blood-brain barrier and reduce cerebral injury.

Objective To investigate the image quality and radiation dose of spectral CT with automatic spectral imaging mode selection (ASIS) and adaptive statistical iterative reconstruction (ASIR) at abdominal CT as compared with low-kVp CT with ASIR.Methods Two hundred patients underwent the plain and arterial-phase (AP) and portal venous-phase (PVP) contrast-enhanced abdominal CT scan were analyzed prospectively.The patients were randomly assigned to the control group (low-kVp CT scan) and study group (spectral CT scan),if BMI ≤ 23.9 kg/m2,patients were assigned into group A (80 kVp) or group B (spectral CT with ASIS);if 24.0 kg/m2 ≤ BMI＜28.9 kg/m2,patients were assigned into group C (100 kVp) or group D (spectral CT with ASIS)(n=50 each).Groups A and B,groups C and D were matched by gender,age,body mass index,cross sectional area and contrast agent dose respectively.Low-kVp images and monochromatic images (40 to 60 keV) were all reconstructed by using ASIR.Radiation dose and quantitative parameters (image noise in HU and contrast-to-noise ratio of the liver,aorta and portal vein) were compared by using t test while overall image quality was assessed by Mann-Whitney U test between the matched groups.Results Radiation dose in the group B was significantly higher than group A (increased by 10％,P＜0.05) but there was no significant differences between groups C and D (P＞0.05).Compared to the control group,image noises in the study group were higher at 40 keV and 50 keV (P＜0.05),but similar at 40 keV (P＞0.05).At the energy level of 40 keV,the study group showed higher CNRs,but lower overall image quality scores than the control group except for the similar image quality scores between groups A and B during AP (P＜0.05).At the energy level of 50 keV,the CNRs and overall image quality scores in the study group were higher than or similar to the control group.At the energy level of 60 keV,the study group showed lower or similar CNRs,but higher or similar overall image quality scores compared with the control group.Conclusions The radiation dose of spectral CT with ASIS technique was slightly higher than 80 kVp CT but similar to 100 kVp CT.By combining ASIR technique,monochromatic image at 50 keV can maintain or improve CNR and overall image quality as compared with low-kVp images.