1.Dosimetric study of radiotherapy synchronized with 3D printing-based tumor treating fields for glioblastoma
Zhongwei LI ; Xuwei LU ; Di WU ; Jianfeng TAN ; Zaijie HUANG ; Pei YANG ; Yujuan ZHOU ; Hong LIU
Chinese Journal of Medical Physics 2025;42(6):712-718
Objective To investigate the dosimetric effects of tumor treating fields(TTFields)patches on different radiotherapy modes for glioblastoma(GBM)patients who wear TTFields patches during radiotherapy,thereby providing dosimetric guidance for determining the appropriate radiotherapy mode.Methods With the TTFields data from GBM patients,artifact-free radiotherapy CT images were obtained utilizing 3D-printed TPU TTFields patches(3D-Print-TTFields)and anthropomorphic phantoms,and then a TTFields-synchronized radiotherapy image model was constructed.Furthermore,the treatment planning system was used to construct a dosimetric calculation model for TTFields-synchronized radiotherapy by simulating and fitting the ray attenuation rate of TTFields patches measured by accelerators.Using these models,3 kinds of radiotherapy plans were simulated and developed.Specifically,P1 simulated the conventional radiotherapy mode;P2 simulated the TTFields-combined radiotherapy mode(TTF-Com-RT),in which patients underwent radiotherapy using the P1 plan while wearing TTFields patches;and P3 simulated the TTFields-synchronized radiotherapy(TTF-Syn-RT)mode where the TTFields patches were worn throughout the entire radiotherapy process.The paired t-test was used to analyze dosimetric parameters such as target dose(D95),average scalp dose(D-skin),conformity index(CI)and homogeneity index(HI)in 3 plans(P1,P2,and P3),as well as the D95 and D-skin parameters for intensity-modulated radiotherapy(IMRT)and volumetric modulated arc therapy(VMAT)techniques in the P3 plan.Results The D95 simulated by P2 decreased by 1.35%as compared with P1(P<0.05),and the D95 simulated by P3 was 1.31%higher than that in P2(P<0.05).Compared with P1,P2 and P3 increased the D-skin by 12.56%and 14.30%,respectively(P<0.05),and the D-skin simulated by P3 increased by 1.55%as compared with P2(P<0.05).However,there were trivial differences in D95 between P3 and P1,CI and HI among all plans,D95 and D-skin between IMRT and VMAT techniques in P3 plan(P>0.05).Conclusion Based on GBM patient data,CT simulation images obtained from 3D-Print-TTFields combined with anthropomorphic phantom are artifact-free and meet radiotherapy requirements.The target and scalp dose differences between TTF-Com-RT and TTF-Syn-RT are less than 2%,and the dosimetric difference of TTF-Syn-RT using IMRT/VMAT techniques is insignificant.Therefore,clinicians can choose radiotherapy modes and techniques according to actual needs.
2.Effect and prognosis of thoracolumbar fracture combined with incomplete spinal cord injury on male sexual function
Gao SI ; Yuexin WANG ; Daole HU ; Guojin HOU ; Zhongwei YANG ; Yan GUO ; Zhishan ZHANG ; Hongquan JI ; Fang ZHOU ; Yun TIAN ; Yang LYU
Chinese Journal of Orthopaedics 2025;45(9):552-560
Objective:To investigate the effects of thoracolumbar vertebral fracture with incomplete spinal cord injury on male sexual function and postoperative prognosis.Methods:A retrospective review was conducted on data from 144 male patients with thoracolumbar vertebral fractures and incomplete spinal cord injuries treated between May 2009 and May 2021 in the Department of Traumatology and Orthopedics at Peking University Third Hospital. Patients ranged in age from 19 to 55 years (mean: 38.6±10.6 years) and underwent posterior incision and reduction internal fixation. The International Index of Erectile Function-5 (IIEF-5), the Premature Ejaculation Diagnostic Tool (PEDT), and the International Spinal Cord Injury Male Sexual Function Basic Data Set were used for sexual function evaluation. Based on the American Spinal Injury Association (ASIA) Spinal Cord Injury classification, changes in neurological and sexual function were assessed at the pre-injury stage, 3 months post-injury, 2 years postoperatively, and at the final follow-up. Factors influencing sexual dysfunction and recovery were analyzed. Spearman correlation analysis was used to identify factors affecting sexual function injury and recovery.Results:A total of 117 patients were included in the final analysis. Follow-up duration ranged from 26.2 to 161.7 months (mean: 74.6±40.5 months). After injury, ASIA grades were distributed as follows: 43 patients with grade B, 41 with grade C, and 33 with grade D. At the 2-year follow-up, 30 patients were grade E, 63 grade D, 19 grade C, and 5 grade B. Improvement in ASIA classification was observed in 90.6% (106/117) of patients: 79 improved by one grade, 27 by two grades, 8 remained unchanged, 1 worsened by one grade, and 2 worsened by two grades. Mean IIEF-5 scores were 19.5±6.4 pre-injury, 8.7±8.0 at 3 months post-injury, and 17.5±7.1 at 2 years postoperatively, with statistically significant differences ( F=123.247, P<0.001). Differences between 3 months post-injury vs. pre-injury and 2 years postoperatively vs. 3 months post-injury were statistically significant ( P<0.05). Mean PEDT scores were 5.3±3.1 pre-injury, 6.9±5.2 at 3 months post-injury, and 6.4±5.1 at 2 years postoperatively, with statistically significant differences ( F=17.014, P<0.001). The difference between 3 months post-injury and pre-injury was statistically significant ( P<0.05), but not between 2 years postoperatively and 3 months post-injury ( P>0.05). At the 2-year follow-up, 96 patients had their IIEF-5 classification restored to pre-injury levels, 85 restored PEDT classifications, and 83 restored both. Post-injury ASIA classification was positively correlated with a decrease in IIEF-5 score and an increase in PEDT score at 3 months post-injury ( P<0.05). Injury segment was positively correlated with the decrease in IIEF-5 score ( P<0.05). Time from injury to surgery showed a positive correlation with increased PEDT score at 3 months ( P<0.05). Post-injury ASIA grade, injury segment, time to surgery, age, intraoperative decompression, and spinal cord function recovery all showed significant correlations with changes in IIEF-5 and (or) PEDT scores at 2 years postoperatively ( P<0.05). According to the International Spinal Cord Injury Male Sexual Function Basic Data Set, the proportion of patients willing to discuss sexual issues increased from 29.9% at 3 months post-injury to 47.9% at 2 years postoperatively ( P<0.05). The proportion of patients with absent or diminished psychogenic erections remained stable (48.7% vs. 48.9%, P>0.05), while those with normal reflexive erections increased from 34.2% to 65.0% ( P<0.05). Conclusion:Thoracolumbar fractures with incomplete spinal cord injury result in reduced erectile function and increased incidence of premature ejaculation. The degree of spinal cord injury and the level of the injured segment are strongly correlated with the extent of sexual dysfunction. At the 2-year postoperative follow-up, 70.9% of patients had recovered sexual function to pre-injury levels.
3.Effect and prognosis of thoracolumbar fracture combined with incomplete spinal cord injury on male sexual function
Gao SI ; Yuexin WANG ; Daole HU ; Guojin HOU ; Zhongwei YANG ; Yan GUO ; Zhishan ZHANG ; Hongquan JI ; Fang ZHOU ; Yun TIAN ; Yang LYU
Chinese Journal of Orthopaedics 2025;45(9):552-560
Objective:To investigate the effects of thoracolumbar vertebral fracture with incomplete spinal cord injury on male sexual function and postoperative prognosis.Methods:A retrospective review was conducted on data from 144 male patients with thoracolumbar vertebral fractures and incomplete spinal cord injuries treated between May 2009 and May 2021 in the Department of Traumatology and Orthopedics at Peking University Third Hospital. Patients ranged in age from 19 to 55 years (mean: 38.6±10.6 years) and underwent posterior incision and reduction internal fixation. The International Index of Erectile Function-5 (IIEF-5), the Premature Ejaculation Diagnostic Tool (PEDT), and the International Spinal Cord Injury Male Sexual Function Basic Data Set were used for sexual function evaluation. Based on the American Spinal Injury Association (ASIA) Spinal Cord Injury classification, changes in neurological and sexual function were assessed at the pre-injury stage, 3 months post-injury, 2 years postoperatively, and at the final follow-up. Factors influencing sexual dysfunction and recovery were analyzed. Spearman correlation analysis was used to identify factors affecting sexual function injury and recovery.Results:A total of 117 patients were included in the final analysis. Follow-up duration ranged from 26.2 to 161.7 months (mean: 74.6±40.5 months). After injury, ASIA grades were distributed as follows: 43 patients with grade B, 41 with grade C, and 33 with grade D. At the 2-year follow-up, 30 patients were grade E, 63 grade D, 19 grade C, and 5 grade B. Improvement in ASIA classification was observed in 90.6% (106/117) of patients: 79 improved by one grade, 27 by two grades, 8 remained unchanged, 1 worsened by one grade, and 2 worsened by two grades. Mean IIEF-5 scores were 19.5±6.4 pre-injury, 8.7±8.0 at 3 months post-injury, and 17.5±7.1 at 2 years postoperatively, with statistically significant differences ( F=123.247, P<0.001). Differences between 3 months post-injury vs. pre-injury and 2 years postoperatively vs. 3 months post-injury were statistically significant ( P<0.05). Mean PEDT scores were 5.3±3.1 pre-injury, 6.9±5.2 at 3 months post-injury, and 6.4±5.1 at 2 years postoperatively, with statistically significant differences ( F=17.014, P<0.001). The difference between 3 months post-injury and pre-injury was statistically significant ( P<0.05), but not between 2 years postoperatively and 3 months post-injury ( P>0.05). At the 2-year follow-up, 96 patients had their IIEF-5 classification restored to pre-injury levels, 85 restored PEDT classifications, and 83 restored both. Post-injury ASIA classification was positively correlated with a decrease in IIEF-5 score and an increase in PEDT score at 3 months post-injury ( P<0.05). Injury segment was positively correlated with the decrease in IIEF-5 score ( P<0.05). Time from injury to surgery showed a positive correlation with increased PEDT score at 3 months ( P<0.05). Post-injury ASIA grade, injury segment, time to surgery, age, intraoperative decompression, and spinal cord function recovery all showed significant correlations with changes in IIEF-5 and (or) PEDT scores at 2 years postoperatively ( P<0.05). According to the International Spinal Cord Injury Male Sexual Function Basic Data Set, the proportion of patients willing to discuss sexual issues increased from 29.9% at 3 months post-injury to 47.9% at 2 years postoperatively ( P<0.05). The proportion of patients with absent or diminished psychogenic erections remained stable (48.7% vs. 48.9%, P>0.05), while those with normal reflexive erections increased from 34.2% to 65.0% ( P<0.05). Conclusion:Thoracolumbar fractures with incomplete spinal cord injury result in reduced erectile function and increased incidence of premature ejaculation. The degree of spinal cord injury and the level of the injured segment are strongly correlated with the extent of sexual dysfunction. At the 2-year postoperative follow-up, 70.9% of patients had recovered sexual function to pre-injury levels.
4.Efficacy of a New Intramedullary Fixation System Proximal Femoral Universal Nail in the Treatment of Intertrochanteric Femoral Fractures in Elderly Patients
Yuan CAO ; Jixing FAN ; Zengzhen CUI ; Zhongwei YANG ; Yang LV ; Yun TIAN ; Fang ZHOU
Chinese Journal of Minimally Invasive Surgery 2025;25(6):329-334
Objective To evaluate the efficacy of proximal femoral universal nail(PFUN),a new type of intramedullary fixation system,in the treatment of acute unilateral intertrochanteric femoral fracture in elderly patients.Methods From January 2022 to January 2024,200 patients with acute unilateral femoral intertrochanteric fracture were treated in our department.After closed traction reduction,PFUN was implanted with small incisions.Unified rehabilitation plan was adopted after surgery.The functional evaluation was performed by using the Harris hip score system at the last follow-up.Results The operation time was 25-182 min(median,63.0 min).The intraoperative blood loss was 10-750 ml(median,50.0 ml).Intraoperative blood transfusion(suspension of red blood cells)was required in 40 cases(20%).The postoperative hospital stay was 1-15 d(mean,4.0±1.9 d).The postoperative femoral neck-shaft angle was 116.7°-140.1°(mean,132.4°±5.5°).The quality of fracture reduction on the first day after surgery showed 140 cases as excellent,54 cases acceptable,and 6 cases poor.Complications occurred in 13 cases,including superficial wound infection in 2 cases,who were cured by regular wound dressing change and antibiotic treatment,lower extremity deep vein thrombosis in 8 cases,who were given low molecular weight heparin anticoagulation treatment until improvement,pneumonia in 2 cases and urinary tract infection in 1 case,who were cured or improved after specialist treatment.At one month after surgery,the hip joint X-ray showed blurred fracture lines,callus formation at the fracture site,and no internal fixation failure.There was no internal fixation failure within 3 months after surgery.At six months after surgery,all fractures achieved healing without any failure of internal fixation.All the 200 cases were followed up for 12-29 months(mean,16.1±2.7 months).One case experienced internal fixation failure,and underwent head and neck screw resection,internal fixation removal and hip replacement.At the last follow-up,the postoperative recovery was satisfactory.The Harris score of hip joint was 70-94 points(mean,88.8±2.8 points),including 103 cases as excellent,92 cases good,and 5 cases fair,with an excellent and good rate of 97.5%(195/200).Conclusion PFUN is effective in the treatment of intertrochanteric femoral fractures in elderly patients,with reliable fixation,rapid postoperative recovery,and low failure rate of internal fixation,especially suitable for unstable cases with internal or external wall fractures.
5.Dosimetric study of radiotherapy synchronized with 3D printing-based tumor treating fields for glioblastoma
Zhongwei LI ; Xuwei LU ; Di WU ; Jianfeng TAN ; Zaijie HUANG ; Pei YANG ; Yujuan ZHOU ; Hong LIU
Chinese Journal of Medical Physics 2025;42(6):712-718
Objective To investigate the dosimetric effects of tumor treating fields(TTFields)patches on different radiotherapy modes for glioblastoma(GBM)patients who wear TTFields patches during radiotherapy,thereby providing dosimetric guidance for determining the appropriate radiotherapy mode.Methods With the TTFields data from GBM patients,artifact-free radiotherapy CT images were obtained utilizing 3D-printed TPU TTFields patches(3D-Print-TTFields)and anthropomorphic phantoms,and then a TTFields-synchronized radiotherapy image model was constructed.Furthermore,the treatment planning system was used to construct a dosimetric calculation model for TTFields-synchronized radiotherapy by simulating and fitting the ray attenuation rate of TTFields patches measured by accelerators.Using these models,3 kinds of radiotherapy plans were simulated and developed.Specifically,P1 simulated the conventional radiotherapy mode;P2 simulated the TTFields-combined radiotherapy mode(TTF-Com-RT),in which patients underwent radiotherapy using the P1 plan while wearing TTFields patches;and P3 simulated the TTFields-synchronized radiotherapy(TTF-Syn-RT)mode where the TTFields patches were worn throughout the entire radiotherapy process.The paired t-test was used to analyze dosimetric parameters such as target dose(D95),average scalp dose(D-skin),conformity index(CI)and homogeneity index(HI)in 3 plans(P1,P2,and P3),as well as the D95 and D-skin parameters for intensity-modulated radiotherapy(IMRT)and volumetric modulated arc therapy(VMAT)techniques in the P3 plan.Results The D95 simulated by P2 decreased by 1.35%as compared with P1(P<0.05),and the D95 simulated by P3 was 1.31%higher than that in P2(P<0.05).Compared with P1,P2 and P3 increased the D-skin by 12.56%and 14.30%,respectively(P<0.05),and the D-skin simulated by P3 increased by 1.55%as compared with P2(P<0.05).However,there were trivial differences in D95 between P3 and P1,CI and HI among all plans,D95 and D-skin between IMRT and VMAT techniques in P3 plan(P>0.05).Conclusion Based on GBM patient data,CT simulation images obtained from 3D-Print-TTFields combined with anthropomorphic phantom are artifact-free and meet radiotherapy requirements.The target and scalp dose differences between TTF-Com-RT and TTF-Syn-RT are less than 2%,and the dosimetric difference of TTF-Syn-RT using IMRT/VMAT techniques is insignificant.Therefore,clinicians can choose radiotherapy modes and techniques according to actual needs.
6.Efficacy of a New Intramedullary Fixation System Proximal Femoral Universal Nail in the Treatment of Intertrochanteric Femoral Fractures in Elderly Patients
Yuan CAO ; Jixing FAN ; Zengzhen CUI ; Zhongwei YANG ; Yang LV ; Yun TIAN ; Fang ZHOU
Chinese Journal of Minimally Invasive Surgery 2025;25(6):329-334
Objective To evaluate the efficacy of proximal femoral universal nail(PFUN),a new type of intramedullary fixation system,in the treatment of acute unilateral intertrochanteric femoral fracture in elderly patients.Methods From January 2022 to January 2024,200 patients with acute unilateral femoral intertrochanteric fracture were treated in our department.After closed traction reduction,PFUN was implanted with small incisions.Unified rehabilitation plan was adopted after surgery.The functional evaluation was performed by using the Harris hip score system at the last follow-up.Results The operation time was 25-182 min(median,63.0 min).The intraoperative blood loss was 10-750 ml(median,50.0 ml).Intraoperative blood transfusion(suspension of red blood cells)was required in 40 cases(20%).The postoperative hospital stay was 1-15 d(mean,4.0±1.9 d).The postoperative femoral neck-shaft angle was 116.7°-140.1°(mean,132.4°±5.5°).The quality of fracture reduction on the first day after surgery showed 140 cases as excellent,54 cases acceptable,and 6 cases poor.Complications occurred in 13 cases,including superficial wound infection in 2 cases,who were cured by regular wound dressing change and antibiotic treatment,lower extremity deep vein thrombosis in 8 cases,who were given low molecular weight heparin anticoagulation treatment until improvement,pneumonia in 2 cases and urinary tract infection in 1 case,who were cured or improved after specialist treatment.At one month after surgery,the hip joint X-ray showed blurred fracture lines,callus formation at the fracture site,and no internal fixation failure.There was no internal fixation failure within 3 months after surgery.At six months after surgery,all fractures achieved healing without any failure of internal fixation.All the 200 cases were followed up for 12-29 months(mean,16.1±2.7 months).One case experienced internal fixation failure,and underwent head and neck screw resection,internal fixation removal and hip replacement.At the last follow-up,the postoperative recovery was satisfactory.The Harris score of hip joint was 70-94 points(mean,88.8±2.8 points),including 103 cases as excellent,92 cases good,and 5 cases fair,with an excellent and good rate of 97.5%(195/200).Conclusion PFUN is effective in the treatment of intertrochanteric femoral fractures in elderly patients,with reliable fixation,rapid postoperative recovery,and low failure rate of internal fixation,especially suitable for unstable cases with internal or external wall fractures.
7.Application value of cone beam CT in accurate diagnosis of submandibular gland calculi
Xiaofeng YANG ; Xiaojuan SUN ; Guangwei QIAO ; Zhongwei ZHOU ; Huixia LAN
Academic Journal of Naval Medical University 2024;45(8):1041-1045
Objective To compare the detection rates of X-ray,ultrasound,computed tomography(CT)and cone beam CT(CBCT)for submandibular gland calculi in different positions,and to explore the auxiliary value of 3-dimensional visualization technology in diagnosis and treatment of submandibular gland calculi.Methods The X-ray,ultrasound,CT and CBCT examination data of 113 patients with submandibular gland calculi at General Hospital of Ningxia Medical University from Nov.2014 to Mar.2021 were retrospectively analyzed.The detection rates and overall detection rates of the 4 imaging methods for calculi in different positions were compared.Mimics 19.0 software and CBCT data were used for 3D reconstruction imaging,visually displaying the location,size,morphology,and number of calculi from a visual perspective.Results There was no significant difference in the total detection rate of submandibular gland calculi between CBCT and CT(98.2%[111/113]vs 95.6%[108/113],P>0.05),but both were significantly higher than that of X-ray(65.5%,74/113)and ultrasound(73.5%,83/113).The detection rates of ultrasound for calculi in the anterior and middle ducts were the lowest(63.6%[21/33]and 72.2%[26/36],respectively),which were significantly different from those of CBCT(97.0%[32/33]and 100.0%[36/36],respectively)and CT(93.9%[31/33]and 97.2%[35/36],respectively)(all P<0.05).The detection rate of X-ray for calculi in the posterior duct was significantly lower than that of ultrasound,CBCT,and CT(40.9%[18/44]vs 81.8%[36/44],97.7%[43/44],and 95.5%[42/44],all P<0.01).After CBCT data were imported into Mimics 19.0 software,submandibular gland calculi with different sizes,shapes,or numbers were successfully visualized and reconstructed.The reconstructed image was clear,and anatomical position relationship between the calculi and the mandible was visualized.Conclusion CBCT has good application value in the diagnosis of submandibular gland calculi and can replace traditional CT for the diagnosis of sialolithiasis.Clinically,CBCT examination can be directly performed for accurate diagnosis of calculi in the posterior duct which are not detected by double coincidence diagnosis but are indicated by ultrasound.For calculi in the anterior and middle ducts,X-ray and CBCT are preferred.Visualization technology helps clinical patient education and the development of personalized preoperative treatment plans.
8.Application of 3D printed model combined with visual surgical simulation in clinical teaching of extremity bone defects
Bingchuan LIU ; Xingcai LI ; Zhongwei YANG ; Guojin HOU ; Fang ZHOU ; Yun TIAN
Chinese Journal of Medical Education Research 2024;23(9):1286-1291
Objective:To investigate the application effect of the comprehensive innovative teaching model with "3D printed model combined with visual surgical simulation" as the core in the clinical teaching of extremity bone defects.Methods:The physicians who participated in the clinical management of patients with extremity bone defects in Department of Orthopedics, Peking University Third Hospital, from March 2019 to December 2021 were selected as subjects and were divided into standardized training group with 52 physicians and refresher physician group with 58 physicians. Teaching and training was performed for the special disease of extremity bone defects, including basic knowledge teaching, dressing change for infected wounds, multidisciplinary discussion, digital surgical simulation, and practical surgical operation. The assessment indices for teaching quality included the assessment of theoretical knowledge and clinical skills, the objective evaluation of the clinical ability of patient management, and an investigation of the degree of satisfaction. SPSS 22.0 was used for the t-test and the chi-square test. Results:After training, both groups had significant increases in the assessment scores of theoretical knowledge [(32.4±6.7)and (42.2±3.8)] and clinical practice skills [(19.6±2.0), (20.8±2.2), (20.5±2.5), (21.5±2.3)]( P<0.05). After training, the standardized training group had significant increases in the scores of six objective evaluation indicators [(8.3±0.8) vs. (6.9±1.1), (7.4±0.7) vs. (6.3±1.5), (7.2±1.3) vs. (5.0±1.4), (7.9±1.2) vs. (4.0±1.5), (8.4±0.8) vs. (6.4±1.6), (40.3±2.6) vs. (28.6±2.4)]( P<0.01), while the refresher physician group had significant improvements in four aspects, i.e., the understanding of extremity bone defects [(8.1±0.9) vs. (7.2±1.1)], the self-confidence in facing complex extremity bone defects [(8.1±1.2) vs. (6.6±0.9)], spatial thinking ability in repair surgery for bone defects [(8.6±0.8) vs. (7.3±0.9)], and overall clinical performance in actual management of patients with bone defects [(41.4±2.3) vs. (37.3±1.8)] ( P<0.01). The satisfaction score for this comprehensive innovative teaching model was (95.3±3.2) points in the standardized training group and (94.8±2.8) points in the refresher physician group. Conclusions:The comprehensive innovative teaching model with "3D printed model combined with visual surgical simulation" as the core can significantly improve the basic knowledge and clinical skills of physicians in a short period of time and meet the needs for learning surgical techniques and advanced diagnosis and treatment concepts among refresher physicians.
9.Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume.
Xiang CHEN ; Yuxi CHEN ; Kai YAN ; Huiyao CHEN ; Qian QIN ; Lin YANG ; Bo LIU ; Guoqiang CHENG ; Yun CAO ; Bingbing WU ; Xinran DONG ; Zhongwei QIAO ; Wenhao ZHOU
Chinese Medical Journal 2023;136(7):807-814
BACKGROUND:
Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay (NDD), but its genetic basis has not been fully characterized. This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume (WBDV).
METHODS:
We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years. We recruited only NDD patients without acquired etiologies or positive genetic results. Cranial magnetic resonance imaging (MRI) and clinical exome sequencing (2742 genes) data were acquired. A genetic burden test was performed, and the results were compared between patients with and without significant WBDV. Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development.
RESULTS:
We recruited a total of 253 NDD patients. Among them, 26 had significantly decreased WBDV (<-2 standard deviations [SDs]), and 14 had significantly increased WBDV (>+2 SDs). NDD patients with significant WBDV had higher rates of motor development delay (49.8% [106/213] vs . 75.0% [30/40], P = 0.003) than patients without significant WBDV. Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV. Analyses of the literature further demonstrated that these genes were not randomly identified: burden genes were more related to the brain development than background genes ( P = 1.656e -9 ). In seven human brain regions related to motor development, we observed burden genes had higher expression before 37-week gestational age than postnatal stages. Functional analyses found that burden genes were enriched in embryonic brain development, with positive regulation of synaptic growth at the neuromuscular junction, positive regulation of deoxyribonucleic acid templated transcription, and response to hormone, and these genes were shown to be expressed in neural progenitors. Based on single cell sequencing analyses, we found TUBB2B gene had elevated expression levels in neural progenitor cells, interneuron, and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron.
CONCLUSION
Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay, which could be explained by the genetic differences characterized herein.
Child
;
Humans
;
Neurodevelopmental Disorders/epidemiology*
;
Genetic Testing
;
Phenotype
;
Brain/pathology*
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Genetic Background
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SOX Transcription Factors/genetics*
10.Characteristics and treatment of snow sports injuries in Zhangjiakou Zone of the Olympic Winter Games Beijing 2022
Zhongwei YANG ; Ao SUN ; Shan GAO ; Fang ZHOU
Chinese Journal of Orthopaedic Trauma 2023;25(12):1017-1024
Objective:To characterize the injuries suffered by athletes in snow events other than alpine skiing in the Zhangjiakou Zone of the Olympic Winter Games Beijing 2022, in order to provide insights for prevention of sports injuries and preparation of large-scale winter sports events.Methods:The medical records were retrospectively collected of all athletes who had been treated at Beijing University Third Hospital Chongli within the closed loop of the Zhangjiakou Zone during the Winter Olympics and Paralympics (from November 21, 2021 to April 5, 2022). The incidence, severity and part of the injuries were analyzed, as well as the medical treatment process.Results:In the Zhangjiakou Zone, a total of 1,188 athletes participated in the Winter Olympic Games, with an injury incidence of 2.9% (34/1,188), while 420 ones participated in the Winter Paralympic Games, with an injury incidence of 1.7% (7/420). The average daily medical visits were the highest during the Winter Olympics phase (1.16 visits per day), and their emergency severity index (ESI) ranged from level 3 to level 4. The department of orthopedics was visited the most (92.7%, 38/41). Lower limb injuries accounted for the highest proportion (53.7%, 22/41), with the knee ones accounting for 36.6% (15/41) of all injuries. Most of the athletes with ESI level 3 received splint fixation (62.5%, 5/8), while those with ESI level 4 mostly received observation and follow-up (57.6%, 19/33). A total of 57 radiological examinations were performed in the 41 athletes. X-ray was used the most frequently on a single day (5.00 times) while magnetic resonance imaging was per day on average (0.16 times). The transfer time for the athletes injured was (27.4±8.8) min which was not influenced by the 4 weather conditions (cloudy, sunny, light snow, and cloudy) ( P=0.374). Conclusions:The incidence of injuries during the Beijing Winter Olympics in the Zhangjiakou Zone was lower than that in other areas of the Beijing Winter Olympics and in previous Winter Olympics. There were no serious life-threatening cases. The imaging examination resources and transfer speed in the Zhangjiakou Zone were able to meet the medical needs of athletes at all stages of the Beijing Winter Olympics and Paralympics. Athletes should pay attention to protection of their lower limbs during skiing competitions.

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