OBJECTIVE: To compare the differences of plasma valine level between autistic and healthy children, and to explore the relationship between plasma valine level and developmental quotient in children with autism. METHODS: In this study, a total of 29 autistic children and 30 typically developing children of the same age range were recruited as the autistic group and the control group. The childhood autism rating scale (CARS) was used to assess autistic core symptoms and severity in the autistic children. Children's developmental quotient was evaluated by Gesell developmental schedules (GDS), and plasma valine level was measured by high performance liquid chromatography-tandem mass spectrometry. The correlation between plasma valine level and developmental quotient scores in the autistic group was analyzed. RESULTS: The plasma level of valine in the autism group was significantly lower than in the control group (P < 0.05). Children in the autism group got significantly lower scores in the adaption, gross motor, fine motor, language function and personal/social function subscales in GDS than in the control group (P < 0.000 1). Plasma valine level in the autism group showed significant positive correlations with scores of the fine motor (r=0.441, P < 0.05) and personal/social function (r=0.437, P < 0.05) subscales in GDS, but showed no significant correlations with scores of the adaption, gross motor and language function subscales in GDS (P>0.05). According to the criteria of CARS, children in the autism group were subdivided into the mild to moderate subgroup and the severe subgroup based on the severity of the autistic symptoms. Compared with children in the mild to moderate subgroup, children in the severe subgroup got significantly lower scores in the adaption, fine motor, language function and personal/social function subscales in GDS (P < 0.05), while there was no significant difference between the two subgroups in gross motor scores and plasma valine level (P>0.05). CONCLUSION The level of valine in plasma of autistic children is relatively lower, and there is a certain relationship between plasma valine level and the fine movement and personal/social function among children with autism.
Humans ; Autistic Disorder/physiopathology* ; Child ; Male ; Female ; Valine/blood* ; Child Development ; Child, Preschool ; Case-Control Studies

Objective:To assess the accuracy of two-dimensional (2D) photographs in measuring esthetic parameters of the maxillary anterior teeth by comparing them with measurements obtained from three-dimensional (3D) dental models.Methods:A total of one hundred volunteers (49 males, 51 females, aged 18-23 years) were recruited from School and Hospital of Stomatology, Wuhan University from January to February 2024. 3D digital models of their dentitions were obtained using an intraoral scanner, and standardized frontal 2D intraoral photographs were captured with a digital camera. The lengths, widths and width/length ratio of the bilateral incisors, lateral incisors and canines were measured on both the 3D digital models and the 2D intraoral photographs. The width ratios of adjacent maxillary anterior were also calculated on the 2D intraoral photographs and the frontal view of 3D digital models.Results:The widths of lateral incisors [(5.85±0.60) mm] and canines [(4.73±0.71) mm] and the lengths of canines [(8.72±0.96) mm] in the 2D intraoral photographs were significantly lower than those in 3D digital models [(6.65±0.59), (7.76±0.60), (8.90±0.86) mm] ( t=-18.24, P<0.001; t=-54.43, P<0.001; t=-4.40, P<0.001), while there were no significant differences in the lengths and widths of the other teeth ( P>0.05). The width/length ratios measured from the 2D intraoral photographs for the lateral incisors and canines (0.74±0.08, 0.55±0.08) were significantly lower than those measured in the 3D digital models (0.84±0.09, 0.88±0.09) ( t=-19.68, P<0.001; t=-50.21, P<0.001), and the width/length ratio of the central incisors showed no significant difference between the two groups ( P>0.05). The width ratios of canines/lateral incisors and lateral incisors/central incisors measured on the 2D intraoral photographs (0.72±0.06, 0.85±0.11) were significantly smaller than those measured in the frontal view of 3D digital models (0.75±0.06, 0.89±0.11) ( t=-9.31, P<0.001; t=-6.58, P<0.001). Conclusions:There is a difference between 2D and 3D measurement results of teeth in the esthetic area and the magnitude of the difference varies with their position in the dental arch. When analyzing the measurement of the anterior teeth, it is necessary to choose the appropriate method according to the target tooth position.

Objective To investigate the effects of intraoperative fraction of inspiration oxygen(FiO2)30%and 80%on pulmonary function after laparoscopic radical prostatectomy for prostate cancer in elderly patients.Methods Sixty elderly patients,aged≥65 years,BMI 18-30 kg/m2,ASA physical sta-tus Ⅱ or Ⅲ,underwent elective laparoscopic radical prostatectomy for prostate cancer were selected.The patients were divided into two groups:the FiO2 30%group(group L)and the FiO2 80%group(group H),30 patients in each group.After tracheal intubation,the patients were manoeuvred,and inhaled oxygen con-centration was adjusted by 30%until the removal of the tracheal tube in group L.In group H,inhaled oxy-gen concentration was adjusted by 80%until the removal of the tracheal tube.HR and MAP were recorded 5 minutes after admission(T0),1 hour after the start of surgery(T1),2 hours after the start of surgery(T2),and 30 minutes after extubation(T3),arterial blood gas analysis was performed to record PaO2 and PaCO2,and the oxygenation index(OI)was calculated.Electrical impedance tomography(EIT)monitoring was performed at T0 and T3 to assess the pulmonary ventilation function,and the percentage of the area of the central ventilation zone(CoV),dependent static zone(DSS),and non-dependent static zone(NSS)were recorded.Exertional expiratory volume in the first second(forecd expirtory volume in the first second,FEV1),exertional lung capacity(forecdvital cipitory,FVC),and 1-second rate(FEV1/FVC)were meas-ured on preoperative day 1,postoperative day 1,postoperative day 3 and postoperative day 5.The occur-rence of pulmonary complications such as atelectasis,respiratory infection,and pleural effusion within 5 days postoperatively were recorded.Results Compared with group H,the percentage of DSS area at T3 was significantly decreased(P＜0.05),PaO2 and OI were significantly increased(P＜0.05),FVC,FEV1,and FEV1/FVC on postoperative day 1 were significantly increased(P＜0.05),FEV1/FVC on postopera-tive day 3 was significantly increased(P＜0.05),the incidence of cumulative pulmonary atelectasis was significantly decreased in group L within 5 days postoperatively(P＜0.05).Conclusion Compared with FiO2 80%,FiO2 30%intraoperatively significantly improves pulmonary ventilation and oxygenation 30 mi-nutes after laparoscopic radical prostatectomy with early postoperative lung function in elderly patients,and reduces postoperative pulmonary atelectasis.

Objective:To examine the safety and effectiveness of a novel stent assisted intestinal bypass for preventing anastomotic leakage in laparoscopic assisted radical resection of rectal cancer.Methods:The clinical data of 9 patients with rectal cancer who underwent laparoscopic radical resection and stent assisted intestinal bypass from September 2019 to June 2020 at the Department of Anus & Intestine Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University were retrospectively analyzed. There were 6 males and 3 females, aged (62.1±6.8) years (range: 53 to 75 years), underwent laparoscopic assisted radical resection of rectal cancer and stent assisted intestinal bypass. A degradable diverting stent was placed at the end of the ileum, and a drainage tube was placed at the proximal end of the stent to bypass the intestinal contents. After operation, the patients were given a diet with less residue. From the 14 th day after operation, abdomen X-ray films were taken every 5 to 7 days to observe the destination of the stent dynamically. When the stent was observed to be disintegrated into pieces, the drainage tube was clamped for 3 days to observe any side effects before the tube was removed. The operation time, the time of removing the bypass tube and the total hospital stay were recorded. Results:Laparoscopic assisted radical resection of rectal cancer and stent assisted intestinal bypass were successfully performed in all patients. The operation time was (230.4±48.0) minutes (range: 150 to 318 minutes), and the time of removing shunt tube was (28.8±4.6) days (range: 22 to 34 days). The duration of hospitalization was (21.0±8.6) days (range: 9 to 34 days). Postoperative pathological examination showed 7 cases of moderately differentiated adenocarcinoma, 1 case of moderately well differentiated adenocarcinoma and 1 case of mucinous adenocarcinoma. There were 2 cases of T1, 4 cases of T2 and 3 cases of T3. The number of lymph node dissection was 13.4±3.5 (range: 6 to 18), 3 cases were positive and 6 cases were negative. The post-operation follow-up time was 6 to 16 months, no anastomotic leakage or stenosis was found.Conclusion:Stent assisted intestinal bypass for the prevention of anastomotic leakage in laparoscopic assisted radical resection of rectal cancer is safe and feasible, and shows good short-term effect.

Objective:To examine the safety and effectiveness of a novel stent assisted intestinal bypass for preventing anastomotic leakage in laparoscopic assisted radical resection of rectal cancer.Methods:The clinical data of 9 patients with rectal cancer who underwent laparoscopic radical resection and stent assisted intestinal bypass from September 2019 to June 2020 at the Department of Anus & Intestine Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University were retrospectively analyzed. There were 6 males and 3 females, aged (62.1±6.8) years (range: 53 to 75 years), underwent laparoscopic assisted radical resection of rectal cancer and stent assisted intestinal bypass. A degradable diverting stent was placed at the end of the ileum, and a drainage tube was placed at the proximal end of the stent to bypass the intestinal contents. After operation, the patients were given a diet with less residue. From the 14 th day after operation, abdomen X-ray films were taken every 5 to 7 days to observe the destination of the stent dynamically. When the stent was observed to be disintegrated into pieces, the drainage tube was clamped for 3 days to observe any side effects before the tube was removed. The operation time, the time of removing the bypass tube and the total hospital stay were recorded. Results:Laparoscopic assisted radical resection of rectal cancer and stent assisted intestinal bypass were successfully performed in all patients. The operation time was (230.4±48.0) minutes (range: 150 to 318 minutes), and the time of removing shunt tube was (28.8±4.6) days (range: 22 to 34 days). The duration of hospitalization was (21.0±8.6) days (range: 9 to 34 days). Postoperative pathological examination showed 7 cases of moderately differentiated adenocarcinoma, 1 case of moderately well differentiated adenocarcinoma and 1 case of mucinous adenocarcinoma. There were 2 cases of T1, 4 cases of T2 and 3 cases of T3. The number of lymph node dissection was 13.4±3.5 (range: 6 to 18), 3 cases were positive and 6 cases were negative. The post-operation follow-up time was 6 to 16 months, no anastomotic leakage or stenosis was found.Conclusion:Stent assisted intestinal bypass for the prevention of anastomotic leakage in laparoscopic assisted radical resection of rectal cancer is safe and feasible, and shows good short-term effect.

OBJECTIVE: To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing. RESULTS: The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers. CONCLUSION The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
Amidohydrolases/genetics* ; Asian Continental Ancestry Group/genetics* ; Child ; Exons ; Female ; Humans ; Metabolism, Inborn Errors/genetics* ; Mutation ; Pedigree

OBJECTIVE: To carry out genetic testing for two families affected with cobalamin C (cblC) and establish a rapid method for the detection of a hotspot pathogenic variant c.609G>A of the MMACHC gene by using a PCR-high-resolution melting curve (PCR-HRM) method. METHODS: Genomic DNA was extracted from peripheral blood samples of the probands and their parents. Potential variants of the MMACHC gene was analyzed by Sanger sequencing. The c.609G>A variant of the MMACHC gene was screened among 100 healthy children with the PCR-HRM method. RESULTS: Sanger sequencing revealed that proband 1 carried compound heterozygous variants c.394C>T and c.609G>A of the MMACHC gene, while proband 2 carried compound heterozygous variants c.482G>A and c.609G>A of the same gene. PCR-HRM analysis of the two probands and the 100 healthy children were consistent with the Sanger sequencing. CONCLUSION c.609G>A is a hotspot pathogenic variant of the MMACHC gene. The diagnosis of cblC may be rapidly attained through detection by PCR-HRM.

Objective To investigate the spectrum of CYP21A2 gene mutation and the correlation between genotype and phenotype in patients with 21-hydroxylase deficiency in Tianjin and surrounding areas.Methods Genomic DNA was extracted from the peripheral blood samples of the proband.Locus-specific PCR,direct sequencing of PCR amplification products,and multiplex ligation-dependent probe amplification were applied to detect pathogenic gene CYP21A2 and the relationship between genotypes and phenotypes was analyzed.Results (1) Of 35 patients with 21-hydroxylase deficiency,25 were classified as salt-wasting phenotype and 10 were simple virilizing phenotype.(2) 69 mutant alleles were detected in a total of 70 alleles in 35 patients.Only one mutant allele was detected in one patient.Two mutant alleles were detected in all other patients,with the mutation detection rate 98.6％.(3) A total of 6 types of mutations were detected,of which c.293-13C/A＞G (I2G) was the most common,accounting for 57.1％ (40/70),followed by 18.6％ (13/70) for large gene deletion or conversion,and 14.3％ (10/70) for p.I173N.In addition,a novel mutation,c.949C＞T (p.R317X),which has not been reported previously,was detected as a pathogenic mutation.(4) Correlation analysis of genotype and phenotype in 35 children showed that the phenotype predicted by genotype was consistent with the actual salt-wasting phenotype in 31 children,and those in three children were inconsistent with the actual clinical phenotype.Conclusion The mutation characteristics of CYP21A2 gene in patients with 21-hydroxylase deficiency in Tianjin and surrounding areas are slightly different from those reported in other regions in China.A mutation c.949C＞T has not been reported,which enriches the mutation spectrum of CYP21A2 gene and provide the foundation for genetic counseling and prenatal diagnosis.

0.05). The expression of GFP was located around the ventricle and persisted for a long time. Conclusion The fluorescence of GFP is stable and persistent and the GFP has no negative effects on the NSCs-GFP. It is an ideal maker of neural stem cells and could be used for the study of NSCs transplantation.

Objective To investigate the migration pathway and feature of neuronal precursors in normal adult rats and provide theory and experiment basis for the neuronal migration under pathological condition. Methods The adult rat brains were cut into 20 ?m coronal and sagittal sections on a freezing microtome. Immunohistochemistry was applied to observe the migration pathway and feature of DCX-expressing cells. Results There were two migration pathways with the neuronal precursors in normal adult rats. One was the rostral migratory stream (RMS) from the subventricular zone to the olfactory bulb, another appeared to travel in a chain along the interface between cortex and corpus callosum. The DCX-positive cells in the RMS had the fusiform somata with a single leading process and the process orientated to the olfactory bulb, while the DCX-positive cells around the corpus callosum had similarly round somata and the size, number and orientation of process were of diversity.Conclusion The study of neuronal precursors migrating not only contributes to identify the migration mechanisms, but also contributes to the control of neuronal migration and designs some effective therapy strategies.