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 develop an endoscopic automatic detection system in early gastric cancer (EGC) based on a region-based convolutional neural network ( Mask R-CNN) ． Methods : A total of 3 579 and 892 white light images (WLI) of EGC were obtained from the First Affiliated Hospital of Anhui Medical University for training and testing，respectively．Then，10 WLI videos were obtained prospectively to test dynamic performance of the RCNN system．In addition，400 WLI images were randomly selected for comparison with the Mask R-CNN system and endoscopists．Diagnostic ability was assessed by accuracy，sensitivity，specificity，positive predictive value ( PPV) ， and negative predictive value (NPV) . Results : The accuracy，sensitivity and specificity of the Mask R-CNN system in diagnosing EGC in WLI images were 90. 25% ，91. 06% and 89. 01% ，respectively，and there was no significant statistical difference with the results of pathological diagnosis．Among WLI real-time videos，the diagnostic accuracy was 90. 27%．The speed of test videos was up to 35 frames / s in real time．In the controlled experiment， the sensitivity of Maks R-CNN system was higher than that of the experts (93. 00% vs 80. 20% ，χ2 = 7. 059，P < 0. 001) ，and the specificity was higher than that of the juniors (82. 67% vs 71. 87% ，χ2 = 9. 955，P＜0. 001) ， and the overall accuracy rate was higher than that of the seniors (85. 25% vs 78. 00% ，χ2 = 7. 009，P＜0. 001) . Conclusion The Mask R-CNN system has excellent performance for detection of EGC under WLI，which has great potential for practical clinical application.

OBJECTIVETo observe the clinical effect differences between infraoccipital needle-knife and massage for cervical vertigo.

METHODSA total of 366 patients with cervical vertigo were randomly assigned into a needle-knife group (186 cases) and a massage group (180 cases). With cases dropping excluded, 183 cases in the needle-knife group and 176 cases in the massage group were included. Needle-knife was used at Fengchi (GB 20), infraoccipitalpoint, etc. in the needle-knife group. The treatment was given for one course, once three days, 5 times as one course. The traditional massage was applied in the massage group for one course, including systematic stroking, kneading, and the application of pressure and plucking, etc., once every two days and 7 times as one course. The dizziness handicap inventory (DHI) score was observed before and after treatment, as well as 3, 6, and 12 months after treatment. The effects were also evaluated.

RESULTSThe total effective rate was 92.3% (169/183) in the needle-knife group, which was better than 85.2% (150/176) in the massage group (<0.05). Compared with those before treatment, the DHI scores at all the observation time points after treatment were improved in the two groups (all<0.05), with better improvements after treatment as well as 3 and 6 months after treatment in the needle-knife group (all<0.05). There was no significant difference in the improvement of DHI scores between the two groups 12 months after treatment (>0.05). The recurrence rate was 10.3% (12/117) in the needle-knife group, and it was 10.7% (11/103) in the massage group 12 months after treatment (>0.05).

CONCLUSIONSInfraoccipital needle-knife achieves apparent effect for cervical vertigo, which is superior to massage in short period.

[Objective] To refer a geographical distribution rule of alpha-L-fucosidase (AFU) reference values for the health adults in China via exploring its spatial distribution trend and its correlation with geographical factors.[Methods] A total of 6564 samples of AFU reference values from 66 administrative units in the years 2004-2015 were collected,male and female of which were 3701 cases (56.4％) and 2863 cases (46.3％).A research concerning AFU reference values in whole country were calculated using methods of information content and ridge regression.[Results] AFU reference values for Chinese healthy adults were influenced by geographical factors and presented autocorrelation,and it showed eastern and northern areas were highery than western and southern areas.[Conclusions] AFU reference values have a spatial variation and the regional disparities should be considered in practice.

Objective To observe the clinical efficacy of Sanyinjiao acupoint sticking with Gushen Yutai Tie on threatened abortion. Methods A total of 216 women diagnosed with threatened abortion were randomly assigned to trial group (108 cases) and control group (108 cases). Both groups were treated with TCM syndrome differentiation treatment and progesterone soft capsule, and the trial group was treated with Gushen Yutai Tie acupoint sticking at Sanyinjiao (SP6) additionally. One treatment course was five days, and both groups were treated for three courses. Vaginal bleeding and lower abdominal pain, lumbar pain, nausea and vomiting were observed, pulsatility index (PI) and resistance index (RI) of the uterine artery were detected after treatment. Results The total effective rate in the trial group was 97.22% (105/108), which was significantly higher than that of 90.74% (98/108) in the control group (P<0.05). Symptom scores in the trial group were also significantly higher than those in the control group (P<0.01). PI and RI in the ineffective (pregnancy failure) group were much lower than that of effective (threatened abortions with normal outcome) group (P<0.01). Conclusion The treatment that Gushen Yutai Tie acupoint sticking at Sanyinjiao combined with TCM syndrome differentiation and progesterone soft capsule had a better effect to improve pregnancy success rate in threatened abortion. PI and RI in uterine artery could be used to evaluate the outcome of pregnancy.

Objective To investigate the changes of serum thyroxine level in obstructive sleep apnea-hy-popnea syndrome(OSAHS) patients and to assess the role of serum thyroxine in the development of OSAHS. Meth-ods Polysomnography was used to examine the patients with OSAHS and fasting plasma serum thyroxine level were higher in obese OSAHS patients than in obese controls[ (43.56±3.48)cm vs (38.33±3.08)cm,t =4. 258,P < 0.05 ], in non-obese OSAHS patients than in non-obese control group [ (40.50±1.05 )cm vs (36.17±3.13 )cm, t = 3. 146 ,P < 0.05 ] . The levels of FT3 was (6.35±3.15 ) pmol/L in obese OSAHS patients and ( 4.08±2.37 ) pmol/L in control subjects ( t = 2.203 ,P < 0.05 ). That was ( 3.42±0.57 ) pmol/L in non-obese OSAHS patients related with AHI and microarousal index (r = 0. 500, P < 0.05;r = 0.561, P < 0.05 ), and FT4 was also positively with neck circumference( t = 0.489, P < 0.05 ), TSH level was negatively correlated with neck circumference ( t = - 0.500, P < 0.05 ) and was positively correlated with the percentage of body fat ( r = 0.498, P < 0.05 ). Conclu-sions The FT3 levels are significantly higher in the OSAHS patients than that in control subjects, though all FT3 lev-els are normal, suggesting that there are possibility to have abnormal metabolism. At the same time, FT3 level is posi-tively correlated with neck circumference ,suggesting that the OSAHS patients' higher neck circumference is correla-ted with thyroxine.