1.Finite element analysis comparing lumbar fusion and artificial intervertebral disc replacement
Jingang ZHAO ; Liping LIU ; Jianwei CHEN
Chinese Journal of Tissue Engineering Research 2026;30(3):553-560
BACKGROUND:Lumbar degenerative disease is a disease of the musculoskeletal system that primarily affects the intervertebral structures,and the disease is treated with lumbar fusion and disc replacement.OBJECTIVE:To conduct comparative analysis of the differences between lumbar fusion,mechanical lumbar disc prosthesis replacement,and viscoelastic lumbar disc prosthesis replacement.METHODS:The computerized tomography images of a healthy adult were used to construct a finite element model of the L2-L5 normal lumbar spine with Mimic,Geomagic,and Ansys software.The equipment required for lumbar fusion and lumbar spine replacement was constructed using modeling software,and the L3-L4 segment of the lumbar spine was processed according to the surgical requirements for lumbar fusion and intervertebral disc replacement,creating the corresponding finite element model.Specific boundary conditions were applied to extract the mobility of each lumbar spine segment,the stresses on the neighboring intervertebral discs,and the stresses on the prosthesis lining.RESULTS AND CONCLUSION:(1)Compared with the preoperative period,the maximum stress in the upper neighboring discs increased by 64.09%and 39.79%in the forward flexion and lateral bending states if the original mobility was maintained after lumbar fusion surgery.The maximum stress in the lower neighboring discs increased by 24.39%and 20.98%in forward flexion and lateral bending.This suggested that the upper adjacent discs would suffer greater stress changes than the lower adjacent discs during heavy physical labor.(2)Disc replacement did not show significant changes in adjacent disc stress,with mechanical prosthesis replacement slightly reducing adjacent disc stress,while viscoelastic prosthesis replacement was more in line with the biological properties of the disc,with maximum adjacent disc stress similar to that of the preoperative period.(3)In terms of stability,the mechanical prosthesis replacement segment showed a 51.67%increase in range of motion in the lateral bending state and a 53.27%increase in range of motion in the posterior extension state,whereas the viscoelastic prosthesis was better able to maintain mobility in the replacement segment.(4)In addition,the stresses in the liner of the mechanical prosthesis were mainly concentrated in the edge region,and this stress distribution may lead to edge wear and thus affect the service life of the prosthesis.
2.Effect of Xiaoqinglong Decoction (小青龙汤) on Th2 Immune Responses and Nasal Mucosal TSLP/OX40L Pathway in Allergic Rhinitis Model Rats
Yimeng CHEN ; Yuye CHEN ; Guangchun YU ; Bei CHEN ; Jianwei ZHANG ; Shanshan DING ; Xiaoting YANG ; Baifan YU ; Yating CAI ; Xuejuan LIN ; Mengting ZHANG
Journal of Traditional Chinese Medicine 2026;67(9):994-1002
ObjectiveTo explore the potential mechanism of Xiaoqinglong Decoction (小青龙汤, XD) in the treatment of allergic rhinitis. MethodsForty-five rats were randomly assigned to a control group, a model group, a loratadine group, low-, medium- and high-dose XD groups, and low-, medium- and high-dose Mahuang Decoction and Cang'erzi Powder (麻黄汤合苍耳子散, MDCP) groups. Except for the control group, rats were administered with ovalbumin (OVA) and aluminum hydroxide via intraperitoneal injection for 14 days to establish an allergic rhinitis model. After the 14th-day injection, nasal stimulation was continued with 20 μl of 10% OVA solution to maintain the model. Rats in the control group and the model group received 10 ml/(kg·d) of saline, whereas those in the loratadine group were administered with 0.9 mg/(kg·d) of loratadine. The low-, medium- and high-dose XD groups were administered XD at the dose of 2.7, 5.4, and 10.8 g/(kg·d), respectively. The low-, medium- and high-dose MDCP groups were administered MDCP at the dose of 2.43, 4.86, and 9.72 g/(kg·d), respectively. All treatments were administered by gavage once daily for 7 consecutive days. One hour after the final gavage, nasal symptom scores were recorded for all group of rats. The next day, serum levels of immunoglobulin E (IgE), interleukin-4 (IL-4), and interleukin-13 (IL-13) were measured. HE staining was used to observe the pathological morphology of the nasal mucosal tissue. Quantitative reverse transcription PCR (RT-qPCR) and Western Blot were performed to assess mRNA and protein expression of thymic stromal lymphopoietin (TSLP) and OX40 ligand (OX40L) in the nasal mucosa. ResultsCompared to the control group, total nasal symptom score in the model group significantly increased (P<0.01). HE staining revealed disrupted and adhered cilia, thickened basement membranes, and extensive inflammatory cell infiltration in the nasal mucosa. Serum levels of total IgE, IL-4, and IL-13, as well as TSLP and OX40L mRNA and protein expression in the nasal mucosa, were significantly elevated in the model group (P<0.05 or P<0.01). Compared to the model group, the total nasal symptom scores in all drug intervention groups were significantly reduced; the serum total IgE levels in the loratadine group, the low- and medium-dose XD groups, and the low- and high-dose MDCP groups were significantly reduced; and the serum levels of IL-4 and IL-13 in the high-dose XD group and the high-dose MDCP group decreased (P<0.05 or P<0.01). Nasal mucosal structure was improved. Except for the low-dose MDCP group, all other intervention groups showed a significant reduction in TSLP and OX40L mRNA expression in the nasal mucosa (P<0.01). All doses of XD and the medium- and high-dose MDCP groups significantly decreased the protein levels of TSLP and OX40L (P<0.05). The medium-dose XD group exhibited more improvement of nasal symptom scores and greater suppression of expression of TSLP and OX40L mRNA, and TSLP protein levels compared to the loratadine group (P<0.05). ConclusionXD may protect nasal mucosa of rats and alleviate allergic rhinitis by suppressing the TSLP/OX40L pathway, thereby attenuating Th2-mediated immune responses.
3.Effect of Xiaoqinglong Decoction (小青龙汤) on Th2 Immune Responses and Nasal Mucosal TSLP/OX40L Pathway in Allergic Rhinitis Model Rats
Yimeng CHEN ; Yuye CHEN ; Guangchun YU ; Bei CHEN ; Jianwei ZHANG ; Shanshan DING ; Xiaoting YANG ; Baifan YU ; Yating CAI ; Xuejuan LIN ; Mengting ZHANG
Journal of Traditional Chinese Medicine 2026;67(9):994-1002
ObjectiveTo explore the potential mechanism of Xiaoqinglong Decoction (小青龙汤, XD) in the treatment of allergic rhinitis. MethodsForty-five rats were randomly assigned to a control group, a model group, a loratadine group, low-, medium- and high-dose XD groups, and low-, medium- and high-dose Mahuang Decoction and Cang'erzi Powder (麻黄汤合苍耳子散, MDCP) groups. Except for the control group, rats were administered with ovalbumin (OVA) and aluminum hydroxide via intraperitoneal injection for 14 days to establish an allergic rhinitis model. After the 14th-day injection, nasal stimulation was continued with 20 μl of 10% OVA solution to maintain the model. Rats in the control group and the model group received 10 ml/(kg·d) of saline, whereas those in the loratadine group were administered with 0.9 mg/(kg·d) of loratadine. The low-, medium- and high-dose XD groups were administered XD at the dose of 2.7, 5.4, and 10.8 g/(kg·d), respectively. The low-, medium- and high-dose MDCP groups were administered MDCP at the dose of 2.43, 4.86, and 9.72 g/(kg·d), respectively. All treatments were administered by gavage once daily for 7 consecutive days. One hour after the final gavage, nasal symptom scores were recorded for all group of rats. The next day, serum levels of immunoglobulin E (IgE), interleukin-4 (IL-4), and interleukin-13 (IL-13) were measured. HE staining was used to observe the pathological morphology of the nasal mucosal tissue. Quantitative reverse transcription PCR (RT-qPCR) and Western Blot were performed to assess mRNA and protein expression of thymic stromal lymphopoietin (TSLP) and OX40 ligand (OX40L) in the nasal mucosa. ResultsCompared to the control group, total nasal symptom score in the model group significantly increased (P<0.01). HE staining revealed disrupted and adhered cilia, thickened basement membranes, and extensive inflammatory cell infiltration in the nasal mucosa. Serum levels of total IgE, IL-4, and IL-13, as well as TSLP and OX40L mRNA and protein expression in the nasal mucosa, were significantly elevated in the model group (P<0.05 or P<0.01). Compared to the model group, the total nasal symptom scores in all drug intervention groups were significantly reduced; the serum total IgE levels in the loratadine group, the low- and medium-dose XD groups, and the low- and high-dose MDCP groups were significantly reduced; and the serum levels of IL-4 and IL-13 in the high-dose XD group and the high-dose MDCP group decreased (P<0.05 or P<0.01). Nasal mucosal structure was improved. Except for the low-dose MDCP group, all other intervention groups showed a significant reduction in TSLP and OX40L mRNA expression in the nasal mucosa (P<0.01). All doses of XD and the medium- and high-dose MDCP groups significantly decreased the protein levels of TSLP and OX40L (P<0.05). The medium-dose XD group exhibited more improvement of nasal symptom scores and greater suppression of expression of TSLP and OX40L mRNA, and TSLP protein levels compared to the loratadine group (P<0.05). ConclusionXD may protect nasal mucosa of rats and alleviate allergic rhinitis by suppressing the TSLP/OX40L pathway, thereby attenuating Th2-mediated immune responses.
4.Finite element analysis comparing lumbar fusion and artificial intervertebral disc replacement
Jingang ZHAO ; Liping LIU ; Jianwei CHEN
Chinese Journal of Tissue Engineering Research 2026;30(3):553-560
BACKGROUND:Lumbar degenerative disease is a disease of the musculoskeletal system that primarily affects the intervertebral structures,and the disease is treated with lumbar fusion and disc replacement.OBJECTIVE:To conduct comparative analysis of the differences between lumbar fusion,mechanical lumbar disc prosthesis replacement,and viscoelastic lumbar disc prosthesis replacement.METHODS:The computerized tomography images of a healthy adult were used to construct a finite element model of the L2-L5 normal lumbar spine with Mimic,Geomagic,and Ansys software.The equipment required for lumbar fusion and lumbar spine replacement was constructed using modeling software,and the L3-L4 segment of the lumbar spine was processed according to the surgical requirements for lumbar fusion and intervertebral disc replacement,creating the corresponding finite element model.Specific boundary conditions were applied to extract the mobility of each lumbar spine segment,the stresses on the neighboring intervertebral discs,and the stresses on the prosthesis lining.RESULTS AND CONCLUSION:(1)Compared with the preoperative period,the maximum stress in the upper neighboring discs increased by 64.09%and 39.79%in the forward flexion and lateral bending states if the original mobility was maintained after lumbar fusion surgery.The maximum stress in the lower neighboring discs increased by 24.39%and 20.98%in forward flexion and lateral bending.This suggested that the upper adjacent discs would suffer greater stress changes than the lower adjacent discs during heavy physical labor.(2)Disc replacement did not show significant changes in adjacent disc stress,with mechanical prosthesis replacement slightly reducing adjacent disc stress,while viscoelastic prosthesis replacement was more in line with the biological properties of the disc,with maximum adjacent disc stress similar to that of the preoperative period.(3)In terms of stability,the mechanical prosthesis replacement segment showed a 51.67%increase in range of motion in the lateral bending state and a 53.27%increase in range of motion in the posterior extension state,whereas the viscoelastic prosthesis was better able to maintain mobility in the replacement segment.(4)In addition,the stresses in the liner of the mechanical prosthesis were mainly concentrated in the edge region,and this stress distribution may lead to edge wear and thus affect the service life of the prosthesis.
5.Comparative Analysis of Clinical Efficacy of Traditional Chinese Medicine Manipulative Reduction Combined with Small Splint Fixation Versus Surgical Treatment for Type A Distal Radius Fracture
Yang SHAO ; Zihan WANG ; Jianwei WANG ; Guoda DAI ; Hengyan CUI ; Zhen HUA ; Tingchen ZHU ; Shaoshuo LI ; Jun MAO ; Fenghua CHEN ; Shuai TAO ; Mao WU
Journal of Traditional Chinese Medicine 2026;67(10):1078-1085
ObjectiveTo compare the clinical efficacy of traditional Chinese medicine (TCM) manipulative reduction combined with small splint fixation versus surgical treatment for type A distal radius fracture (DRF) and to explore the factors influencing the choice of treatment. MethodsA multi-center retrospective study was conducted, collecting data from 1237 type A DRF patients treated in 11 hospitals in Jiangsu province from September, 2023 to April, 2025. Among them, 851 patients in the TCM group received manipulative reduction combined with small splint fixation, and 386 patients in the surgical group underwent open reduction and internal fixation. Visual analog scale (VAS) scores for pain and radiographic indicators including palmar tilt, ulnar deviation, and radial height were compared before treatment, 5-7 days after treatment, and 4-6 weeks after treatment. The wrist joint function scores including Dienst and Gartland-Werley scores at 12 weeks after treatment were recorded. Subgroup analysis was conducted for the excellent rate of Dienst and Gartland-Werley scores, stratified by age (<50, 50-59, 60-69, ≥70 years old) and AO subtypes (A1, A2, A3). A multivariate logistic regression model was used to identify independent factors influencing treatment choice. ResultsOn 5-7 days after treatment, the surgical group had lower VAS scores than the TCM group, while 4-6 weeks after treatment, the TCM group showed lower VAS scores than the surgical group (P<0.01). In terms of radiographic indicators, except for the palmar tilt before treatment being higher in the surgical group than in the TCM group (P<0.01), there were no significant differences in palmar tilt, ulnar deviation, and radial height at other timepoints (P>0.05). Twelve weeks after treatment, the surgical group had a higher average Gartland-Werley score and the excellent rate than the TCM group (P<0.01). Subgroup analysis showed that in patients with A2 type DRF aged 50-59 and 60-69 years old, the excellent rates of Dienst and Gartland-Werley scores in the TCM group were higher than those in the surgical group (P<0.05). Multivariate logistic regression analysis revealed that age, palmar tilt, ulnar deviation, and the degree of swelling on the affected side were independent factors influencing the choice of treatment (P<0.05). ConclusionBoth TCM manipulative reduction combined with small splint fixation and surgical treatment for type A DRF can achieve good therapeutic effects. TCM manipulative reduction combined with small splint fixation has certain advantages in medium- and long-term pain relief, especially in elderly patients, where wrist joint function recovery is more stable. Age, palmar tilt, ulnar deviation, and swelling degree are the main factors influencing the treatment choice.
6.Comparison of super-mini and standard percutaneous nephrolithotomy in treating 2-4 cm renal calculi
Jianwei LI ; Zixiong CAI ; Yuanwei CHEN ; Jianjun LIU
Journal of Modern Urology 2026;31(3):224-229
Objective To evaluate the efficacy and safety of super-mini percutaneous nephrolithotomy(SMP)and standard percutaneous nephrolithotomy(sPCNL)in the treatment of 2-4 cm renal calculi, so as to provide reference for the management of medium-sized renal calculi. Methods A retrospective analysis was conducted on 168 patients with 2-4 cm renal calculi who underwent either SMP or sPCNL at our hospital during Sep. 2020 and Mar. 2025. The patients were divided into the SMP group(n=85)and sPCNL group(n=83). The baseline characteristics, stone features, operation time, perioperative complications, transfusion rate, postoperative hemoglobin drop, pain score, hospital stay, and stone-free rate(SFR)were compared between the two groups. Results There were no significant differences in baseline characteristics, stone features, and SFR between the two groups(P>0.05). Compared to the sPCNL group, the SMP group had a longer operation time [(71.76±22.49)vs.(64.22±15.01)min, P=0.034]. However, it had lower postoperative pain score [(2.51 ±0.85)vs.(4.11±0.47), P<0.001], shorter hospital stay [(3.16±1.45)vs.(4.30±1.06)days, P<0.001], lower hospitalization costs [(19982.67±4267.80)vs.(21688.53±4575.74)RMB, P=0.004], a slighter decrease in hemoglobin [(6.64±10.56)vs.(12.22±11.50)g/L, P=0.032], and a significantly higher tubeless rate(83.53% vs. 0%, P<0.001). There was no statistically significant difference in the overall complication rate between the two groups(P>0.05). Conclusion For 2—4 cm renal calculi, SMP achieves a comparable SFR as sPCNL. Although the operation time with SMP is slightly longer, it offers significant advantages, including reduced postoperative pain, shorter hospitalization, lower costs, less bleeding, and a higher tubeless rate. SMP is a valuable technique worthy of broader clinical application.
7.Application of the combined tumor burden score and platelet-albumin-bilirubin score model for predicting postoperative tumor recurrence in liver transplant recipients with hepatocellular carcinoma
Weidong ZHU ; Junyang XIAO ; Xiaoji QIU ; Lizhi LÜ ; Jianwei CHEN ; Fang YANG
Organ Transplantation 2025;16(4):556-564
Objective To investigate the predictive value of the combined tumor burden score (TBS) and platelet-albumin-bilirubin (PALBI) score model for postoperative tumor recurrence in liver transplant recipients with hepatocellular carcinoma (HCC). Methods The general information of 158 recipients diagnosed with HCC and underwent liver transplantation at the 900th Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army from 2008 to 2021 was collected. Lasso regression analysis combined with multivariate Cox regression analysis were used to identify independent risk factors for postoperative tumor recurrence after liver transplantation with HCC. A nomogram prediction model was constructed based on variables selected by Lasso regression analysis, and the predictive performance of the model was verified by calibration curve and clinical decision curve. The optimal cut-off values for postoperative tumor recurrence in liver transplant recipients with HCC were determined by receiver operating characteristic (ROC) curve, and Kaplan-Meier analysis was used to compare survival differences among different groups. Results Among the 158 liver transplant recipients with HCC, 82 experienced tumor recurrence, with a recurrence rate of 51.9% and a median tumor-free survival time of 10 (4, 25) months. Results of Lasso regression analysis and multivariate Cox regression analysis showed that alpha-fetoprotein (AFP) ≥400 ng/mL, TBS and PALBI score were all independent risk factors for postoperative tumor recurrence in liver transplant recipients with HCC (all P<0.05). The combined high TBS-high PALBI score showed the highest predictive value (hazard ratio 6.909, 95% confidence interval 3.067-15.563, P<0.001). A nomogram prediction model was constructed based on six variables selected by Lasso regression analysis. Calibration curve showed good consistency between the model's predicted results and the ideal curve. Decision curve analysis indicated that the nomogram prediction model provided the highest clinical benefit for predicting 1-year tumor-free survival after liver transplantation with HCC. Time-dependent ROC curves at 1, 3 and 5 years after surgery showed that TBS-PALBI model had good predictive performance, with no significant difference in area under the curve (AUC) compared with TBS-PALBI-AFP model. The optimal cut-off values for predicting postoperative tumor recurrence were determined by ROC curve, with a PALBI score cut-off of −2.334 and a TBS cut-off of 5.305. Recipients were divided into a low TBS-low PALBI score group (n=47) and a low/high TBS-low/high PALBI score group (at least one score was high) (n=111). Kaplan-Meier survival analysis showed that the low TBS-low PALBI score group had a higher tumor-free survival rate than the low/high TBS-low/high PALBI score group, with a significant difference (P<0.05). Conclusions TBS-PALBI model provides a novel, simple and effective tool for assessing the prognosis of liver transplant recipients with HCC. The nomogram model constructed based on this has significant advantages in predictive performance and may serve as a reference for guiding individualized treatment plans and improving clinical outcomes.
8.Factors influencing recurrence within two years after the first TURBT and risk prediction model for NMIBC
Yunze WANG ; Rong FAN ; Shiming CHEN ; Jianwei SUN ; Aliyar AIXANJIANG ; Guofan DONG ; Kulaisi ENEVAR ; Wenguang WANG
Journal of Modern Urology 2025;30(4):322-326
Objective: To analyze the risk factors of recurrence after transurethral resection of bladder tumor (TURBT) in patients with non-muscle-invasive bladder cancer (NMIBC),and establish a risk prediction model,so as to optimize the clinical detection and management of NMIBC. Methods: A total of 174 patients with initial diagnosis of NMIBC who underwent TURBT in the First Affiliated Hospital of Xinjiang Medical University during Jan.2020 and Oct.2022 were followed up for 24 months,and were then divided into the recurrence group (n=74) and non-recurrence group (n=100).After univariate analysis and multivariate logistic regression,risk factors of recurrence were identified,a nomogram was established,and the calibration curve was plotted,which was verified with receiver operator characteristic (ROC) curve. Results: The 2-year recurrence rate was 42.53%.Logistic regression showed high body mass index (BMI),poor differentiation,multiple tumors,and tumor diameter greater than 3 cm were risk factors of recurrence (P<0.05,OR≥1),while immediate postoperative intravesical instillation was a protective factor (P<0.05).The C-index of the nomogram was 0.893 (95%CI:0.851-0.938),the area of ROC curve (AUC) was 0.894 (95%CI:0.847-0.941),the sensitivity was 82.4%,and the specificity was 83.0%. Conclusion: The prediction model based on BMI,tumor stage,grade,number,diameter,and immediate postoperative intravesical instillation fits well and can provide reference for predicting the risk of tumor recurrence.
9.Development and validation of a nomogram for predicting postoperative prognosis in gallbladder cancer patients based on the HALP score
Shujie HE ; Zhelong JIANG ; Lili WU ; Xuanhua LIN ; Lizhi LYU ; Yang CHENG ; Baipo ZHOU ; Fang YANG ; Jianwei CHEN
Chinese Journal of Hepatobiliary Surgery 2025;31(9):666-670
Objective:To analyze the effects of hemoglobin, albumin, lymphocyte and platelet count (HALP) scores on the survival of gallbladder cancer patients after radical surgery, and to construct a prognostic prediction model and evaluate based on HALP scores.Methods:The clinical data of 95 patients with gallbladder cancer who underwent surgical treatment in Fuzong Clinical Medical College of Fujian Medical University (the 900th Hospital) from January 2010 to December 2022 were retrospectively analyzed, including 40 males and 55 females, with the age of (63.3±12.2) years. All patients were divided into a low HALP group (HALP score ≤35.4, n=45) and a high HALP group (HALP score >35.4, n=50) based on the optimal cut-off value of 35.4 for predicting postoperative survival as determined by the receiver operating characteristic (ROC) curve. Survival curves were plotted by the Kaplan-Meier method, and survival comparisons were performed using the log-rank test. Univariate and multivariate Cox regression were used to analyze the effect of HALP score on survival after radical surgery in patients with gallbladder cancer. Based on the multifactorial results, nomogram was constructed to predict the survival of gallbladder cancer patients after radical surgery, and ROC curves, consistency indexes were evaluated in the model. Results:A total of 95 patients were followed up for 1-150 months, with a median of 13 months. The 1-, 3-, and 5-year postoperative cumulative survival rates of patients in the low HALP group were 56.2%, 31.2%, and 11.1%, respectively, which were lower than those of the high HALP group, which were 82.9%, 59.6%, and 40.7%, and the difference was statistically significant ( χ2=12.50, P<0.001). Based on multifactorial Cox regression analysis, preoperative total bilirubin ≥23 μmol/L, with lymph node metastasis, tumor TNM stage Ⅲ-Ⅳ, and postoperative incision infection were the risk factors for survival after radical surgery in patients with gallbladder cancer, and a HALP score of >35.4 and Child-Pugh A were protective factors (all P<0.05). Based on the results of multivariate Cox regression analysis to construct a nomogram for predicting overall survival after radical surgery in patients with gallbladder cancer, the consistency index between the prediction of the nomogram and the actual situation was 0.801 (95% CI: 0.752-0.850), and the area under the ROC curve for predicting overall survival was 0.812 (95% CI: 0.704-0.902). Conclusion:The preoperative high HALP score (HALP > 35.4) is a protective factor for survival after radical surgery in gallbladder cancer patients, and the nomogram constructed based on the HALP score for survival prediction after radical surgery for gallbladder cancer has high accuracy and can be used for the assessment of postoperative survival.
10.Clinical and genetic analysis of a child with Lamb-Shaffer syndrome due to a de novo variant of SOX5 gene.
Liming ZHANG ; Liye SHI ; Linfei LI ; Jianwei YANG ; Hongqi SUN ; Junmei YANG ; Yongxing CHEN
Chinese Journal of Medical Genetics 2025;42(1):89-93
OBJECTIVE:
To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene.
METHODS:
A child who was admitted to Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100).
RESULTS:
The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c.1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_supporting).
CONCLUSION
The c.1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.
Humans
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SOXD Transcription Factors/genetics*
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Male
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Infant
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Exome Sequencing
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Genetic Testing
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Mutation

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