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 analysis the relationship of cephalometric measurements from intercuspal position(before and after treat-ment)and retruded contact position(before treatment).Methods:18 cases with Class III malocclusion were treated using MBT straight wire appliance technique,all the incisal relationships could be edge-to-edge when the mandible was retruded,X-ray films of intercus-pal position and retruded contact position before treatment and intercuspal position after treatment were taken.The cephalometric meas-urements were statistically analysed by ANOVA.Results:After 25 months treatment the anterior crossbite were corrected in all cases. The molar relationship were class Ⅰ.The measurements of SNB,ANB,MP-FH,MP-SN,U1-SN,L1-MP,Y-axis angle and ANS-Me were significantly changed.Conclusion:After the treatment of Class III malocclusion by MBT straight wire appliance,the sagittal and vertical mandibular location can be between intercuspal position and retruded contact position of pretreatment,and it is more close to the retruded contact position.

ObjectiveTo study the different clinical effects of using 5 kinds of hemostatic surgeries to manage the intractable postpartum hemorrhage and analyse the risk factors of failed hemostasis.Methods From Jan.2007 to Jul.2011,96 patients with intractable postpartum hemorrhage were studied retrospectively and grouped by the first step surgical treatment.The hemostatic surgeries included uterine tamponade (tamponadegroup ), pelvicbloodvessels ligation(ligationgroup), pelvical arterial embolization (embolization group), uterine compression sutures (sutures group)and uterine compression sutures combining tamponade (combined group).The intraoperative and postoperation datum were compared among groups,so dose the treatment outcomes.Multivariate analysis were used for failed hemostasis.Results( 1 ) The blood loss of 96 patients ranged from 1200 to 9100 ml,and 71 patients had a succeed hemoatasis after employing these surgeries and 25 failed.(2) The blood loss before hemostasis surgeries in tamponade group and embolization group was statisically greater than in sutures group ( P ＜ 0.05 ).Blood loss during the hemostasis surgeries in ligation group was statistically greater than in embolization and sutures groups ( P ＜0.05).The operating time of embolization group was statistically shorter than ligation group,sutures group and the combined group (P ＜ 0.05 ).(3) Fine of 96 patients had uterine atony and 43 had a successful hemostasis with the success rate about 78％.Forty-six had placenta previa and 39 success with success rate 85％.Thirty-three had placenta accrete and 13 of which succeed in hemostasis with success rate about 39％.In patients with uterine atony and placenta previa,the difference of hemostasis rate in groups had no statistically significant ( P ＞ 0.05 ).In patients with placenta accrete,the hemostasis rate in embolization group was higher than in others groups (P ＜ 0.01 ). (4) The multivariate analysis found that scar uterus,placenta accrete and coagulation defects were the risk factors of failed hemotasis.The OR value respectively was 2.9 (95 ％ CI:1.1 - 7.6 ),17.9 ( 95 ％ CI:5.6 - 56.3 ) and 16.2 ( 95 ％ CI:3.2 - 83.5 ).Embolization had some extent of protective effection ( OR =0.9,95 ％ CI:0.8 - 0.9 ).Conclusions ( 1 ) Five kinds of hemostatic surgeries were all effective.Though the success rate among groups did show statistical difference,pelvical arterial embolization has the comparative advantage of shorter operating time,less operating blood loss and higher success rate in placenta accrete.(2) Since scar uterus,placenta accrete and coagulation defects were the risk factors of failed hemostasis,sufficient preparation should be made for patients with these risk factors and the hemostatic surgeries should be choosed individually.