1.Clinical analysis of clavicle anatomical plate in the treatment of AllmanⅡC type of clavicle fracture.
Jian-Zhong GE ; Jin-Rui GU ; Peng XU ; Zhi-Ling ZHANG ; Kai WANG
China Journal of Orthopaedics and Traumatology 2025;38(7):711-715
OBJECTIVE:
To evaluate the clinical efficacy and safety of clavicular anatomical plate in the treatment of clavicular Allmanic fracture.
METHODS:
Between January 2016 and December 2022, 27 patients with Allman ⅡC distal clavicle fractures were treated with clavicular anatomical plate. There were 19 males and 8 females, aged from 16 to 69 years old, with an average of (39.74±12.71) years old. There were 15 patients on the left side and 12 patients on the right side. There were 15 patients with single clavicle fracture and 12 patients complicated with other parts of the body or organ injury. The broken ends of the fractures were fixed with clavicular anatomical plate, including common compression clavicular anatomical plate in 19 patients and locking clavicular anatomical plate in 8 patients. The operation time and hospitalization days were recorded. Visual analogue scales (VAS) were utilized to assess subjective pain levels both preoperatively and 3 days postoperatively. Postoperatively, patients were monitored at intervals of 1 to 3 months until X-ray films confirmed fracture healing. In accordance with the University of California, Los Angeles (UCLA) shoulder rating system, evaluations were conducted on postoperative pain alleviation, functional recovery, range of motion in forward flexion, strength in forward flexion, and patient satisfaction.
RESULTS:
All patients were followed up for a period ranging from 12 to 18 months with an average of (14.70±1.61) months, and all clavicular fractures achieved successful union. The wounds of 24 patients healed in one stage, and 3 patients developed bleeding and exudation, they were cured after dressing change. There were no complications such as infection, plate and screw fracture, vascular and nerve injury. The operation time was(67.56±11.01) min. Significant differences were observed in pain relief, functional improvement, range of motion for forward flexion, strength of forward flexion, patient satisfaction, and overall scores at preoperative, 3 months postoperatively, 6 months postoperatively, and at the final follow-up(P<0.001).
CONCLUSION
The utilization of clavicular anatomical plates for the management of Allman typeⅡC fractures can provide early and stable fixation without compromising the acromioclavicular joint, thereby enabling patients to commence early mobilization and ensuring optimal fracture healing.
Humans
;
Male
;
Female
;
Clavicle/surgery*
;
Adult
;
Bone Plates
;
Middle Aged
;
Fractures, Bone/physiopathology*
;
Adolescent
;
Aged
;
Fracture Fixation, Internal/instrumentation*
;
Young Adult
2.Guideline for Adult Weight Management in China
Weiqing WANG ; Qin WAN ; Jianhua MA ; Guang WANG ; Yufan WANG ; Guixia WANG ; Yongquan SHI ; Tingjun YE ; Xiaoguang SHI ; Jian KUANG ; Bo FENG ; Xiuyan FENG ; Guang NING ; Yiming MU ; Hongyu KUANG ; Xiaoping XING ; Chunli PIAO ; Xingbo CHENG ; Zhifeng CHENG ; Yufang BI ; Yan BI ; Wenshan LYU ; Dalong ZHU ; Cuiyan ZHU ; Wei ZHU ; Fei HUA ; Fei XIANG ; Shuang YAN ; Zilin SUN ; Yadong SUN ; Liqin SUN ; Luying SUN ; Li YAN ; Yanbing LI ; Hong LI ; Shu LI ; Ling LI ; Yiming LI ; Chenzhong LI ; Hua YANG ; Jinkui YANG ; Ling YANG ; Ying YANG ; Tao YANG ; Xiao YANG ; Xinhua XIAO ; Dan WU ; Jinsong KUANG ; Lanjie HE ; Wei GU ; Jie SHEN ; Yongfeng SONG ; Qiao ZHANG ; Hong ZHANG ; Yuwei ZHANG ; Junqing ZHANG ; Xianfeng ZHANG ; Miao ZHANG ; Yifei ZHANG ; Yingli LU ; Hong CHEN ; Li CHEN ; Bing CHEN ; Shihong CHEN ; Guiyan CHEN ; Haibing CHEN ; Lei CHEN ; Yanyan CHEN ; Genben CHEN ; Yikun ZHOU ; Xianghai ZHOU ; Qiang ZHOU ; Jiaqiang ZHOU ; Hongting ZHENG ; Zhongyan SHAN ; Jiajun ZHAO ; Dong ZHAO ; Ji HU ; Jiang HU ; Xinguo HOU ; Bimin SHI ; Tianpei HONG ; Mingxia YUAN ; Weibo XIA ; Xuejiang GU ; Yong XU ; Shuguang PANG ; Tianshu GAO ; Zuhua GAO ; Xiaohui GUO ; Hongyi CAO ; Mingfeng CAO ; Xiaopei CAO ; Jing MA ; Bin LU ; Zhen LIANG ; Jun LIANG ; Min LONG ; Yongde PENG ; Jin LU ; Hongyun LU ; Yan LU ; Chunping ZENG ; Binhong WEN ; Xueyong LOU ; Qingbo GUAN ; Lin LIAO ; Xin LIAO ; Ping XIONG ; Yaoming XUE
Chinese Journal of Endocrinology and Metabolism 2025;41(11):891-907
Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.
3.The safety and efficacy of urinary microbiota transplantation in the treatment of interstitial cystitis
Bo LIU ; Yuwei ZHANG ; Lili ZHANG ; Xinyu XU ; Yang WANG ; Hao LIN ; Chaoqun GU ; Peng JIANG ; Yifan SUN ; Ninghan FENG
Chinese Journal of Urology 2025;46(6):421-429
Objective:To investigate the safety and efficacy of urinary microbiota transplantation(UMT)in treating interstitial cystitis(IC).Methods:A retrospective analysis of the clinical data of three patients with IC treated with UMT at the Central Hospital of Jiangnan University from May 2022 to August 2024. Three women(45,62,79 years)presented with urinary frequency(10 - 90 min intervals),urgency,dysuria,lower abdominal pain,and non-organic sleep disorder,with nocturia(2 - 15 episodes)causing sleep difficulty. Disease durations were 3,6,and 21 years. Prior antibiotic therapy failed. Preoperative urinalysis/culture(x2)ruled out bacterial cystitis,and diagnosed as interstitial cystitis(IC),with one of transient positive urine culture. Preoperative scores for case 1 were self-rating depression scale(SDS)of 49,self-rating anxiety scale(SAS)of 31,interstitial cystitis symptom index(ICSI)of 5,interstitial cystitis problem index(ICPI)of 2,brief urological problem scale of 50,genitourinary pain assessment scale of 10,and pain catastrophizing scale(PCS)of 0. For case 2,the scores were 60 of SDS,66 of SAS,9 of ICSI,11 of ICPI,50 of brief urological problem scale,28 of genitourinary pain assessment scale,and 34 of PCS. For case 3,the scores were 44 of SDS,48 of SAS,11 of ICSI,5 of ICPI,33 of brief urological problem scale,27 of genitourinary pain assessment scale,and 21 of PCS. Preoperative bladder hydro-distention showed mucosal hemorrhage including central block hemorrhage(Case 1),numerous spots(Case 2),and distinct sheets(Case 3). Preoperative urine 16S rRNA sequencing revealed low diversity,increased Gardnerella/ Bacteroides(opportunistic),and decreased Bacillus/ Streptococcus(beneficial). Two healthy young female donors had normal comprehensive tests covering blood/urine/stool,coagulation,CRP,immunity,liver/kidney function,lipids,infectious diseases,hormones,tumor markers,urine culture,TOUCH,and expanded quantitative urine culture. Donor urine 16S rRNA showed low pathogenic( Gardnerella/ Bacteroides)abundance. Donor midstream morning urine was catheter-collected,centrifuged,and the bacterial pellet resuspended in saline. Recipients underwent bladder irrigation pre-UMT. On UMT day,donor bacterial suspension was instilled via catheter with adverse event monitoring. Follow-up included clinic visits at 1 month and 1 year for symptom assessment,scale scoring,cystoscopy evaluating mucosal inflammation,hydrodistension checks,and telephone tracking of urinary symptoms every 2 - 3 months. Prognosis was assessed by symptom relief,scale score reduction,and mucosal recovery. Results:No adverse reactions occurred within 24 hours post-UMT in all 3 cases. Two patients showed same-day urinary urgency reduction;three reported relief from urinary frequency/urgency on postoperative day 7,with 2 - 3 hour daytime intervals and 0 - 5 nocturnal voids. Two patients experienced lower abdominal pain alleviation. Postoperative Week 1 urinalysis and urine cultures revealed no abnormalities. The 16S rRNA test showed a decrease in the abundance of harmful bacteria(e.g., Cupriavidus,Ureaplasm,Mycobacterium,Pseudomonas)and an increase in the abundance of beneficial bacteria( Dietzia,Halomonas,and Streptococcus),and the overall urobacterial structure was significantly improved and similar to that of the donor. Case 1 was followed up for 20 months,and the lab tests were normal,with SDS scales of 38,SAS of 20,ICSI of 3,ICPI of 2,brief urological problem scale of 44,genitourinary pain assessment scale of 10,PCS of 0,at 9 months post-op follow-up,indicating physical and mental improvement. The bladder hydro-distention revealed intact mucosa with only mild inflammation,which improved versus preoperative situation. Case 2 was followed up for 15 months,and the lab tests were normal,with SDS scales of 44,SAS of 34,ICSI of 4,ICPI of 2,brief scale of urinary problems of 0,genitourinary pain assessment scale of 9,PCS of 7,at 2 months post-op follow-up,showing improved anxiety/depression and quality of life. The hydro-distention showed decreased scattered hemorrhagic dots and mucosal inflammation. Case 3 was followed up for 13 months,with an increased leukocytes of urine and the other being normal for lab tests,and SDS scales of 35,SAS of 46,ICSI of 13,ICPI of 13,brief scale of urinary problems of 10,genitourinary pain assessment scale of 33,PCS of 11,at 13 months post-op follow-up,indicating physical and mental improvement. The hydro-distention revealed mucosal congestion,marked submucosal vasodilation,and inflammation decreased compared with preoperative situation. Conclusions:UMT alleviates urinary frequency,urgency,and pain in IC patients with sustained effects,significantly improves urine microecology,and shows no adverse events,positioning it as a viable intervention for IC.
4.Clinical and genetic characteristics of SCN2A gene related developmental delay
Jialu GU ; Shaofang SHANGGUAN ; Jianhong WANG ; Jiayi LI ; Hua XIE ; Xia QU ; Nan PENG ; Xi WANG ; Qi XU ; Yike ZHU ; Xinghui LI ; Xuefeng SUN ; Xiaoli CHEN ; Lin WANG
Chinese Journal of Preventive Medicine 2025;59(5):667-676
Objective:To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods:A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children′s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results:A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children′s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant ( t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion:SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.
5.Clinical guideline for diagnosis and treatment of nonunion of osteoporotic vertebral fractures (version 2025)
Haipeng SI ; Le LI ; Junjie NIU ; Wencan ZHANG ; Fuxin WEI ; Jinqiu YUAN ; Qiang YANG ; Hongli WANG ; Guangchao WANG ; Shihong CHEN ; Yunzhen CHEN ; Xiaoguang CHENG ; Jianwen DONG ; Shiqing FENG ; Rui GU ; Yong HAI ; Tianyong HOU ; Bo HUANG ; Xiaobing JIANG ; Lei ZANG ; Chunhai LI ; Nianhu LI ; Hua LIN ; Hongjian LIU ; Peng LIU ; Xinyu LIU ; Sheng LU ; Shibao LU ; Chunshan LUO ; Lvy CHAOLIANG ; Lvy WEIJIA ; Xuexiao MA ; Wei MEI ; Chunyang MENG ; Cailiang SHEN ; Chunli SONG ; Ruoxian SONG ; Jiacan SU ; Honglin TENG ; Hui SHENG ; Beiyu WANG ; Bingwu WANG ; Liang WANG ; Xiangyang WANG ; Nan WU ; Guohua XU ; Yayi XIA ; Jin XU ; Youjia XU ; Jianzhong XU ; Cao YANG ; Maowei YANG ; Zibin YANG ; Xiaojian YE ; Hailong YU ; Xijie YU ; Hua YUE ; Zhili ZENG ; Xinli ZHAN ; Hui ZHANG ; Peixun ZHANG ; Wei ZHANG ; Zhenlin ZHANG ; Jianguo ZHANG ; Tengyue ZHU ; Qiang LIU ; Huilin YANG
Chinese Journal of Trauma 2025;41(10):932-945
Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.
6.Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Fan YU ; Yinfang TU ; Yanfang ZHANG ; Tianwei GU ; Haoyong YU ; Xiangyu MENG ; Si CHEN ; Fengjing LIU ; Ke HUANG ; Tianhao BA ; Siqian GONG ; Danfeng PENG ; Dandan YAN ; Xiangnan FANG ; Tongyu WANG ; Yang HUA ; Xianghui CHEN ; Hongli CHEN ; Jie XU ; Rong ZHANG ; Linong JI ; Yan BI ; Xueyao HAN ; Hong ZHANG ; Cheng HU
Chinese Medical Journal 2025;138(9):1129-1131
7.Research advance on the role of gut microbiota and its metabolites in juvenile idiopathic arthritis.
Ao-Hui PENG ; You-Jia CHEN ; Jin-Xuan GU ; Zhi-Gang JIN ; Xu-Bo QIAN
Acta Physiologica Sinica 2025;77(3):587-601
Juvenile idiopathic arthritis (JIA) is the most common condition of chronic rheumatic disease in children. JIA is an autoimmune or autoinflammatory disease, with unclear mechanism and limited treatment efficacy. Recent studies have found a number of alterations in gut microbiota and its metabolites in children with JIA, which are related to the development and progression of JIA. This review focuses on the influence of the gut microbiota and its metabolites on immune function and the intestinal mucosal barrier and discuss the key role of the gut-joint axis in the pathogenesis of JIA and emerging treatment methods based on gut microbiota and its metabolites. This review could help elucidate the pathogenesis of JIA and identify the potential therapeutic targets for the prevention and treatment of JIA.
Humans
;
Arthritis, Juvenile/physiopathology*
;
Gastrointestinal Microbiome/physiology*
;
Child
;
Intestinal Mucosa
8.A model for quantification technology of fetal right ventricular size and function and its application in the diagnosis of hypoplastic right heart syndrome
Zheng WANG ; Jun LI ; Minjuan ZHENG ; Yiyu JIAO ; Shengjun TUO ; Ting ZHU ; Dong WU ; Yanting LI ; Peng XU ; Jiying GU
Chinese Journal of Ultrasonography 2025;34(7):616-622
Objective:To establish a normal data model of fetal right ventricular size and function using echocardiography,and to explore the clinical value of quantitative assessment of right ventricular size and function in the diagnosis of congenital heart diseases.Methods:(1)A simple random sampling method was employed to collect 1 004 pregnant women with normal singleton pregnancies at 24 to 32 +6 weeks of gestation who underwent fetal cardiac ultrasound examinations at the First Affiliated Hospital of Air Force Medical University from January 2021 to December 2023. Two-dimensional and M-mode echocardiography were used to measure the right ventricular end-diastolic diameter(RVEDD),right ventricular end-diastolic area(RVEDA),tricuspid annular plane systolic excursion(TAPSE)during systole,and the right ventricular fractional area change(RVFAC)was calculated. The correlations between the above parameters and ultrasound gestational age(USGA)were analyzed. Moreover,percentile growth curves for each parameter were plotted. With the above parameters as dependent variables and the USGA as the independent variable,a Z-score model was established through regression analysis.(2)A stratified sampling method was adopted to select 30 fetuses diagnosed with hypoplastic right heart syndrome(HRHS)and 30 fetuses diagnosed with pulmonary stenosis(PS)during the same period as the case group. The model was verified,and the morphological and functional characteristics of the right ventricle were analyzed. Results:The data of RVEDD,RVEDA,TAPSE,and RVFAC in normal fetuses showed a skewed distribution. Each parameter showed good linear correlations with USGA( r=0.836,0.834,0.846,0.242;all P<0.001). The constructed percentile curves for each parameter indicated that RVEDD,RVEDA and TAPSE increased significantly with the growth of USGA,while RVFAC showed a slow downward trend. All parameters in the HRHS group and TAPSE and RVFAC in the PS group deviated significantly from the normal reference range(all P<0.001). Conclusions:By analyzing RVEDD,RVEDA,TAPSE and RVFAC of normal fetuses,the percentile and Z-score normal reference value models of multiple parameters of fetal right ventricular size and function have been established,providing corresponding standards for quantitative analysis.
9.Finite element analysis of application of variable angle screws in posterolateral tibial plateau fractures
Zhenghui HU ; Wen ZHANG ; Hongquan HENG ; Weizhi REN ; Chenying WU ; Zenghui GU ; Jian PENG ; Liubing LI ; Wei XU
Chinese Journal of Tissue Engineering Research 2025;29(27):5735-5742
BACKGROUND:During the treatment of posterolateral tibial plateau fractures through the fibular head approach,the gap between the fibular head and the lateral plateau cannot accommodate the posterior placement of a plate for all patients.OBJECTIVE:To analyze,via finite element analysis,the differences in fixation strength resulting from varying the angles and quantities of horizontal arm variable angle screws in the plate during the treatment of posterolateral tibial plateau fractures through the fibular head approach.METHODS:A finite element model was established based on CT images of the knee to ankle joints of a 30-year-old healthy adult male volunteer.The models were divided into two categories:posteriorly placed group and non-posteriorly placed group based on whether the lateral locking compression plate was posteriorly placed.The posteriorly placed group was further subdivided into groups A-D based on the offset angle of the two variable angle screws(0°,5°,10°,and 15°).The non-posteriorly placed group was subdivided into groups E and F based on offset angles(0° and 15°).Finite element analysis was used to evaluate the von Mises stress distribution,maximum von Mises stress,and compressive displacement under loads of 250,500,and 750 N,exploring the mechanical differences between the groups.RESULTS AND CONCLUSION:(1)Finite element analysis results showed that under a 750 N load,the maximum compressive displacement trend of the internal fixation device was D<B=C=F<A<E.The trend for maximum von Mises stress was B<C<A<D<F<E.The trend for maximum compressive displacement on the bone was C=D<B<A<F<E,and for maximum von Mises stress,it was B<C<A<F<D<E.The displacement and stress trends for the six models were similar under loads ranging from 250 N to 750 N.(2)These results suggest that for posterolateral tibial plateau fractures fixed through the fibular head approach,posterior placement of the plate should aim to accommodate two screws.If only one screw can be fixed during surgery,variable angle screws should be offset in the range of 0-15° to increase the probability of securing two screws.
10.Clinical and genetic characteristics of SCN2A gene related developmental delay
Jialu GU ; Shaofang SHANGGUAN ; Jianhong WANG ; Jiayi LI ; Hua XIE ; Xia QU ; Nan PENG ; Xi WANG ; Qi XU ; Yike ZHU ; Xinghui LI ; Xuefeng SUN ; Xiaoli CHEN ; Lin WANG
Chinese Journal of Preventive Medicine 2025;59(5):667-676
Objective:To explore the genotype and the clinical phenotype of SCN2A-related developmental delay in children. Methods:A case series study was adopted. Collect clinical data from 10 cases of children with SCN2A gene variants diagnosed with global developmental delay/intellectual disability who were admitted to the Children′s Hospital between July 2019 and March 2023. Summarize the clinical phenotype and genotype based on clinical data such as general information, clinical manifestations, imaging examinations, laboratory tests, genetic testing results, and comprehensive pediatric neuropsychological development assessment. Results:A total of 10 patients were recruited, including 7 males and 3 females, with an age range of 27 days to 5 years and 9 months. 9 patients underwent children′s neuropsychological and behavioral assessments, and the results were consistent with global developmental delay, including 2 mild cases, 4 moderate cases, and 3 severe cases. 3 cases had autism spectrum disorder, and 2 cases had epilepsy. 6 patients underwent complete head MRI examination, and 4 of them showed abnormalities, including delayed myelination, widening of the local extra brain space in the frontal lobe, and abnormal frontal lobe morphology. All 10 cases had point variants. Among them, 9 cases are de novo and 1 case is maternal inheritance. Out of 10 cases, there were 5 cases with copy number variations, but all of them were of unknown significance. Among the 10 variants, 8 have been reported and 2 have not been reported, namely c.4145A>T(p.N1382I) and c.4937T>A(p.I1646N). In this study, 4 out of 10 patients with SCN2A variants had variation sites located in the S4 segment of domain which constitute Nav1.2, the sodium ion channel encoded by SCN2A. The developmental quotient level was lower when the variation sites were located in the S4 segment of domain, and the difference was statistically significant ( t=-3.101, P=0.017), indicating that the severity of developmental delay may be related to the localization of amino acids corresponding to variant sites within the protein domain. Conclusion:SCN2A mutations are strongly associated with diverse neurodevelopmental disorders. In this study, the phenotypic spectrum of SCN2A variants encompassed epilepsy, global developmental delay, and autism spectrum disorder. Affected individuals exhibited early-onset developmental delays, predominantly moderate to severe in severity. Voltage-sensing domain dysfunction in sodium channels may constitute a critical pathomechanism underlying neurodevelopmental impairments. Further electrophysiological characterization and molecular mechanistic studies are warranted todelineate the genotype-phenotype correlations between specific variant loci and clinical severity.

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