BACKGROUND:The definitive cause of adolescent idiopathic scoliosis is not yet known.The search for a clinical approach to address adolescent idiopathic scoliosis is imminent.OBJECTIVE:To investigate the effect of Schroth therapy combined with core strength training on mild adolescent idiopathic scoliosis and to provide more bases for the clinical treatment of mild adolescent idiopathic scoliosis.METHODS:110 patients with mild adolescent idiopathic scoliosis attending the Department of Rehabilitation Medicine and Department of Spine Surgery of Affiliated Hospital of Nantong University from July 2022 to January 2024 were selected as the study subjects.They were divided into the trial group and the control group according to the wishes of the patients and their parents,with 55 cases in each group.The control group was observed and followed up,and the trial group underwent Schroth therapy combined with core strength training for 45 minutes a day for 24 weeks.The differences in imaging parameters,body surface indexes,three-dimensional ultrasound imaging angle,and quality of life were compared between the two groups before and after treatment.RESULTS AND CONCLUSION:(1)At 24 weeks after treatment,major curve Cobb,apical vertebral translation,and cervical lordosis were significantly improved in the trial group(P＜0.05),while there was no significant difference in the control group(P＞0.05).Major curve Cobb and apical vertebral translation in the trial group were significantly better than those in the control group(P＜0.05).(2)At 24 weeks after treatment,angle of trunk rotation in the trial group was significantly lower than that before treatment(P＜0.05),while there was no significant difference between before and after treatment in the control group(P＞0.05),and angle of trunk rotation in the trial group was significantly lower than that of the control group(P＜0.05).(3)At 24 weeks after treatment,the center of laminae angle of three-dimensional ultrasound imaging was significantly reduced in the trial group(P＜0.05),while there was no significant difference in the control group before and after treatment(P＞0.05).The center of laminae angle of three-dimensional ultrasound imaging was smaller in the trial group than that in the control group(P＜0.05).(4)At 24 weeks after treatment,in terms of the quality of life,pain dimension score in the trial group was significantly increased(P＜0.05).Both trial and control groups showed significantly higher scores in the self-image dimension compared with that before treatment(P＜0.05).Both groups had significantly lower scores in the mental health dimension compared with that before treatment(P＜0.05).In the dimensions of pain,self-image,mental health,and satisfaction,the trial group was significantly higher than the control group(P＜0.05).(5)It is indicated that Schroth therapy combined with core strength training can improve the major curve Cobb,apical vertebral translation,and cervical lordosis angle,reduce the angle of trunk rotation,decrease the center of laminae angle of three-dimensional ultrasound imaging,and improve the quality of life,and it is effective in the treatment of mild adolescent idiopathic scoliosis.

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

OBJECTIVE: To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS). METHODS: A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). RESULTS: Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively. 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20, respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites, including c.204_205insTCTC (p.V69fs), c.412G>C (p.G138R), c.431T>G (p.V144G), and c.875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. CONCLUSION Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.
Humans ; Male ; Female ; Glucose Transporter Type 1/deficiency* ; Monosaccharide Transport Proteins/deficiency* ; Child ; Child, Preschool ; Carbohydrate Metabolism, Inborn Errors/genetics* ; Mutation ; Infant ; Pedigree ; Adolescent ; Adult

OBJECTIVE: To report the clinical experience of using Ilizarov wrist joint distraction technique in the treatment of a case of rheumatoid arthritis of the wrist. METHODS: In January 2019, a 49-year-old female patient with rheumatoid arthritis of the left wrist, complicated by ulnar impaction syndrome, was admitted for treatment. Preoperatively, the active range of motion of the left wrist was as follows: extension 0°-flexion 0°, pronation 65°-supination 35°, and grip strength of 4.0 kg. The visual analogue scale (VAS) score was 9, and the Cooney wrist function score was 15, indicating poor function. As conservative treatment failed to achieve symptom relief, Ilizarov wrist joint distraction surgery was performed. Postoperatively, joint distraction was applied at 2 mm increments on postoperative days 2 and 7, in 4 separate sessions. RESULTS: Postoperative X-ray film examination at 7 days revealed a distraction of 3.6 mm in the affected wrist joint compared to the contralateral side. The external fixator was removed 2.5 months postoperatively. At 22 months postoperatively, X-ray film and MRI examinations revealed that the joint space of the left wrist had returned to near-normal, with significant reduction in joint effusion and synovial proliferation. The active range of motion of the left wrist improved to extension 15°- flexion 30°, pronation 90°-supination 90°, with a grip strength of 18.0 kg. The wrist pain VAS score decreased to 0, and the Cooney wrist function score improved to 90, indicating excellent function. At 50 months postoperatively, follow-up X-ray film, MRI, and functional assessments showed the results similar to those at 22 months. CONCLUSION Ilizarov wrist joint distraction may be a viable treatment option for rheumatoid arthritis of the wrist.
Humans ; Female ; Middle Aged ; Wrist Joint/physiopathology* ; Arthritis, Rheumatoid/physiopathology* ; Range of Motion, Articular ; Ilizarov Technique ; Treatment Outcome ; Osteogenesis, Distraction/methods*

Objective:To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS).Methods:A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). Results:Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively, 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20 respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites induding, c. 204_205insTCTC (p.V69fs), c. 412G>C (p.G138R), c. 431T>G (p.V144G), and c. 875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. Conclusion:Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.

BACKGROUND:The definitive cause of adolescent idiopathic scoliosis is not yet known.The search for a clinical approach to address adolescent idiopathic scoliosis is imminent.OBJECTIVE:To investigate the effect of Schroth therapy combined with core strength training on mild adolescent idiopathic scoliosis and to provide more bases for the clinical treatment of mild adolescent idiopathic scoliosis.METHODS:110 patients with mild adolescent idiopathic scoliosis attending the Department of Rehabilitation Medicine and Department of Spine Surgery of Affiliated Hospital of Nantong University from July 2022 to January 2024 were selected as the study subjects.They were divided into the trial group and the control group according to the wishes of the patients and their parents,with 55 cases in each group.The control group was observed and followed up,and the trial group underwent Schroth therapy combined with core strength training for 45 minutes a day for 24 weeks.The differences in imaging parameters,body surface indexes,three-dimensional ultrasound imaging angle,and quality of life were compared between the two groups before and after treatment.RESULTS AND CONCLUSION:(1)At 24 weeks after treatment,major curve Cobb,apical vertebral translation,and cervical lordosis were significantly improved in the trial group(P＜0.05),while there was no significant difference in the control group(P＞0.05).Major curve Cobb and apical vertebral translation in the trial group were significantly better than those in the control group(P＜0.05).(2)At 24 weeks after treatment,angle of trunk rotation in the trial group was significantly lower than that before treatment(P＜0.05),while there was no significant difference between before and after treatment in the control group(P＞0.05),and angle of trunk rotation in the trial group was significantly lower than that of the control group(P＜0.05).(3)At 24 weeks after treatment,the center of laminae angle of three-dimensional ultrasound imaging was significantly reduced in the trial group(P＜0.05),while there was no significant difference in the control group before and after treatment(P＞0.05).The center of laminae angle of three-dimensional ultrasound imaging was smaller in the trial group than that in the control group(P＜0.05).(4)At 24 weeks after treatment,in terms of the quality of life,pain dimension score in the trial group was significantly increased(P＜0.05).Both trial and control groups showed significantly higher scores in the self-image dimension compared with that before treatment(P＜0.05).Both groups had significantly lower scores in the mental health dimension compared with that before treatment(P＜0.05).In the dimensions of pain,self-image,mental health,and satisfaction,the trial group was significantly higher than the control group(P＜0.05).(5)It is indicated that Schroth therapy combined with core strength training can improve the major curve Cobb,apical vertebral translation,and cervical lordosis angle,reduce the angle of trunk rotation,decrease the center of laminae angle of three-dimensional ultrasound imaging,and improve the quality of life,and it is effective in the treatment of mild adolescent idiopathic scoliosis.

Objective To develop a combined model integrating radiomics and 3D deep learning features for improving the predictive efficacy of overall survival in non-small cell lung cancer(NSCLC)patients undergoing radiotherapy,thereby providing a foundation for optimizing individualized radiotherapy strategies.Methods A retrospective analysis was conducted on 522 NSCLC patients from 3 centers.Radiomics features were extracted from the tumor region of interest on radiotherapy planning CT scans,and a 3D-SE-ResNet was constructed to extract deep learning features.Following feature extraction,features were selected via univariate Cox analysis and Lasso-Cox regression,and a combined model was established by fusing the two feature types through principal component analysis.The discriminative ability of the model was evaluated using the concordance index(C-index)and the area under the receiver operating characteristic curve(AUC),while the risk stratification efficacy was verified by Kaplan-Meier survival analysis.Results The predictive performance of deep learning features was significantly superior to that of radiomics features(C-index:0.73 vs 0.65).The combined model achieved the highest predictive performance in the training set,internal test set,and external test set(C-index:0.74,0.69,0.72 respectively),with higher AUC values for predicting 1-year,2-year,and 3-year OS than either single model.Kaplan-Meier analysis showed significant differences in survival between the high-and low-risk groups(Log-rank test,P<0.001),and calibration curves indicated good consistency between predicted and actual survival outcomes.Conclusion The combined model integrating radiomics and 3D deep learning features can accurately predict survival outcomes in NSCLC patients undergoing radiotherapy.The multi-center validation results support its potential application in prognosis stratification for individualized radiotherapy.

Objective To develop a combined model integrating radiomics and 3D deep learning features for improving the predictive efficacy of overall survival in non-small cell lung cancer(NSCLC)patients undergoing radiotherapy,thereby providing a foundation for optimizing individualized radiotherapy strategies.Methods A retrospective analysis was conducted on 522 NSCLC patients from 3 centers.Radiomics features were extracted from the tumor region of interest on radiotherapy planning CT scans,and a 3D-SE-ResNet was constructed to extract deep learning features.Following feature extraction,features were selected via univariate Cox analysis and Lasso-Cox regression,and a combined model was established by fusing the two feature types through principal component analysis.The discriminative ability of the model was evaluated using the concordance index(C-index)and the area under the receiver operating characteristic curve(AUC),while the risk stratification efficacy was verified by Kaplan-Meier survival analysis.Results The predictive performance of deep learning features was significantly superior to that of radiomics features(C-index:0.73 vs 0.65).The combined model achieved the highest predictive performance in the training set,internal test set,and external test set(C-index:0.74,0.69,0.72 respectively),with higher AUC values for predicting 1-year,2-year,and 3-year OS than either single model.Kaplan-Meier analysis showed significant differences in survival between the high-and low-risk groups(Log-rank test,P<0.001),and calibration curves indicated good consistency between predicted and actual survival outcomes.Conclusion The combined model integrating radiomics and 3D deep learning features can accurately predict survival outcomes in NSCLC patients undergoing radiotherapy.The multi-center validation results support its potential application in prognosis stratification for individualized radiotherapy.

Currently,revascularization is an effective rescue strategy for patients with acute myocardial infarc-tion.However,myocardial ischemia/reperfusion(I/R)injury induced by revascularization has become a significant risk factor affecting the long-term prognosis of patients with ischemic cardiomyopathy after revascularization,without precise treatment.Extracellular vehicles derived from mesenchymal stem cells are characterized by easy access,editability,and easy absorption of cells,and their application in treating myocardial I/R injury is considered valuable to study.This review focuses on the advances in research on mesenchymal stem cell-derived extracellular vehicles and their function of regulating myocardial I/R injury after natural drug intervention,hopefully offering ideas for the research of prevention and treatment of myocardial I/R injury.

Objective:To investigate the correlation between hearing loss and microvascular complications in diabetes.Methods:This cross-sectional study conducted the data from 572 patients with diabetes hospitalized in the Endocrinology Department of the General Hospital of Southern Theater Command from September 2022 to July 2023. All participants underwent electrical audiometry and acoustic immittance in the ENY department. Based on the audiometric results, participants were categorized into normal hearing group and hearing loss group. Additionally, 572 non-diabetic patients from the outpatient department were enrolled as the non-diabetic group. The general information and laboratory results were collected and compared using t test, rank sum test or χ2 test. Binary logistic regression analysis was used to evaluate the association of diabetic hearing loss with diabetic kidney disease(DKD), diabetic retinopathy (DR), and diabetic peripheral neuropathy (DPN). Results:Among 572 patients with diabetes, 429 suffered from hearing loss and 143 were normal. χ2 test showed significant differences in combined DKD and DPN between two groups, but not in DR. Multivariate binary logistic regression analysis identified DKD and DPN as risk factors for hearing loss, but no correlation was found with DR. Conclusion:Diabetic patients with DKD or DPN should be monitored for potential hearing loss. Early screening and treatment are crucial to prevent severe hearing impairment.