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.

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.

Objective To observe the value of optimized temporal parallel acquisition technique (TPAT) sequence in evaluating cardiac structure and function in arrhythmia patients.Methods Totally 33 arrhythmia patients (arrhythmia group) and 48 normal rhythm subjects (normal group) underwent cardiac MRI with conventional cine (balanced steadystate free-precession [bSSFP]) sequence and optimized TPAT sequence.Myocardial thickness,cardiac function,myocardial strain parameters of left ventricle and image quality of 2 sequences were compared in the two groups,respectively.Results In arrhythmia group,there was statistical difference of myocardial thickness in 12 myocardial segments between the 2 sequences (all P ＜ 0.05),as well as peak and average values of myocardial radial and circumferential strain (all P＜0.05).In normal group,there was no statistical difference of myocardial thickness and stain parameters between the 2 sequences (all P＞0.05).Additionally,no statistical difference of cardiac function was found between the 2 sequences in two groups (all P＞0.05).In arrhythmia group,the image quality of optimized TPAT sequence was better than that of bSSFP sequence (P＜0.05).Conclusion For arrhythmia patients,optimized TPAT cine sequence could improve image quality of cardiac MRI.

Objective:To study the mechanism of moxibustion therapy on diabetic peripheral neuropathy for the peripheral neuroprotection.Methods:The DPN model was induced by intraperitoneal injection with streptozotocin (STZ).The rats were given moxibustion at the acupoint Yishu (Extra) and the acupoint Zusanli (ST 36).The treatment was carried out once a day and 15 minutes per acupoint,lasting for 56 d in total.The clinical effect of moxibustion was evaluated by detecting blood sugar,urine sugar,body weight and dietary intakes,as well as nerve conduction velocity with neuroelectrophysiological method.The structure variation of sciatic nerve was observed by HE staining and light microscopy,and the level of NGF in the sciatic nerve Was determined by ELISA.Results:Compared with the model group,the plasma glucose was significantly lower in the moxibustion group (P＜0.01),with significantly faster nerve conduction velocity (P＜0.01),more notably changes in pathological appearance (P＜0.01) and higher level of nerve growth factor (NGF)(P＜0.01).Conclusion:Moxibustion could improve the symptom and signs of peripheral neuropathy in rat models with DPN,which may relate to the increased NGF and enhanced peripheral nerve protection.