Objective:To investigate the clinical characteristics of urea cycle disorder (UCD), the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy in pediatric patients with UCD.Methods:This study was a retrospective, single-arm, multicenter clinical study. The clinical data of 20 pediatric patients with UCD who received GPB treatment at 9 hospitals nationwide between December 2021 and August 2024 were collected. The clinical manifestations, laboratory results, and molecular genetic characteristics were analyzed, ammonia levels and other laboratory results were evaluated pre-post GPB therapy by paired t-tests or Wilcoxon tests. Results:Among the 20 pediatric patients with UCD, there were 8 males and 12 females, and the onset age was 2.8 (1.4, 5.7) years. The ammonia levels were 174 (125, 342) μmol/L at first onset. The symptoms included vomiting in 6 cases, drowsiness in 5 cases, epilepsy in 5 cases, developmental delay in 5 cases, psychiatric and behavioral abnormalities in 3 cases, and lethargy in 1 case, and 18 cases exhibited abnormal liver function. Twenty cases included 6 UCD subtypes, with 11 cases being ornithine transcarbamylase deficiency. A total of 27 variants were identified, 11 (41%) of which were novel. The age of patients who began GPB therapy was 4.0 (1.5, 6.6) years. Ten cases stopped GPB after 4.2 (3.4, 5.3) months, with 4 patients undergoing liver transplantation and 6 discontinuing for financial reasons. The remaining ten patients continued GPB therapy for 11.6 (8.6, 14.0) months. The duration of GPB treatment was 6.0 (4.2, 12.3) months, at the final visit, the levels of ammonia, platelets and aspartate aminotransferase were lower compared to those of pre-treatment (all P<0.05). The serum albumin level was higher than that of pre-treatment ( P=0.016). Two patients suffered only one episode of acute hyperammonaemia, with ammonia levels of 232 and 141 μmol/L, respectively. Nine cases experienced adverse effects potentially related to GPB, decreased appetite in 6 cases, vomiting in 3 cases, abnormal skin oil odor in 2 cases, somnolence, fatigue and diarrhea each in 1 case, with symptoms improved within 6 (3, 10) days. Conclusions:UCD primarily manifests with neurological and gastrointestinal symptoms, and early diagnosis of UCD could be achieved through the analysis of ammonia. GPB may effectively reduce ammonia levels in UCD pediatric patients, with favorable safety and tolerability.

Objective:To investigate the clinical characteristics of urea cycle disorder (UCD), the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy in pediatric patients with UCD.Methods:This study was a retrospective, single-arm, multicenter clinical study. The clinical data of 20 pediatric patients with UCD who received GPB treatment at 9 hospitals nationwide between December 2021 and August 2024 were collected. The clinical manifestations, laboratory results, and molecular genetic characteristics were analyzed, ammonia levels and other laboratory results were evaluated pre-post GPB therapy by paired t-tests or Wilcoxon tests. Results:Among the 20 pediatric patients with UCD, there were 8 males and 12 females, and the onset age was 2.8 (1.4, 5.7) years. The ammonia levels were 174 (125, 342) μmol/L at first onset. The symptoms included vomiting in 6 cases, drowsiness in 5 cases, epilepsy in 5 cases, developmental delay in 5 cases, psychiatric and behavioral abnormalities in 3 cases, and lethargy in 1 case, and 18 cases exhibited abnormal liver function. Twenty cases included 6 UCD subtypes, with 11 cases being ornithine transcarbamylase deficiency. A total of 27 variants were identified, 11 (41%) of which were novel. The age of patients who began GPB therapy was 4.0 (1.5, 6.6) years. Ten cases stopped GPB after 4.2 (3.4, 5.3) months, with 4 patients undergoing liver transplantation and 6 discontinuing for financial reasons. The remaining ten patients continued GPB therapy for 11.6 (8.6, 14.0) months. The duration of GPB treatment was 6.0 (4.2, 12.3) months, at the final visit, the levels of ammonia, platelets and aspartate aminotransferase were lower compared to those of pre-treatment (all P<0.05). The serum albumin level was higher than that of pre-treatment ( P=0.016). Two patients suffered only one episode of acute hyperammonaemia, with ammonia levels of 232 and 141 μmol/L, respectively. Nine cases experienced adverse effects potentially related to GPB, decreased appetite in 6 cases, vomiting in 3 cases, abnormal skin oil odor in 2 cases, somnolence, fatigue and diarrhea each in 1 case, with symptoms improved within 6 (3, 10) days. Conclusions:UCD primarily manifests with neurological and gastrointestinal symptoms, and early diagnosis of UCD could be achieved through the analysis of ammonia. GPB may effectively reduce ammonia levels in UCD pediatric patients, with favorable safety and tolerability.

Objective: To study the relationship between motor coordination, social communication impairment, and restricted/repetitive behaviors (RRBs) in children with autism spectrum disorder (ASD). Methods: A total of 123 ASD children aged 2-12 were recruited from rehabilitation service institutions for autistic children in Guangzhou, including 105 boys and 18 girls. The Developmental Coordination Disorder Questionnaire, Social Communication Questionnaire, and Restrictive Behavior Scale Revised were collected to measure motor coordination, social communication skills and RRBs, respectively. Multiple linear regression was used to explore the association between motor coordination and core symptoms. Results: In children aged 2-5 years old, those without motor coordination deficits scored lower in social interaction (7.73±4.00) than others (9.76±2.90)( Z=-2.29, P <0.05). In children aged 6-12 years old, those without motor coordination deficits scored lower in restricted, repetitive, and stereotyped patterns of behavior (4.22±1.93), repetitive sensory-motor behaviors (3.91±2.63), and insistence on sameness (13.52±10.59) than those with motor coordination deficits (6.11±1.54, 14.00±8.49, 31.33±15.05)( Z=-2.48, -3.83, -3.28, P <0.01)。Multiple linear regression analysis showed that fine motor/handwriting and control during movement were negatively correlated with the severity of social communication impairment and RRBs respectively among children aged 2-5 and 6-12( β=-0.85--0.03, -2.98--0.17, P <0.05). Conclusion Among autistic children, those with motor deficits suffered from more severe core symptoms. Motor assessment should be included in the ASD screening, diagnosis and management. Motor intervention should also be promoted in the rehabilitation in order to improve the prognosis and life quality.

Objective: To explore changes in the social interactions of school aged children with autism spectrum disorder (ASD) enrolled in ordinary schools and special education institutions during a one year observation period. Methods: A total of 44 children with ASD were recruited from the Research Center of Children and Adolescent Psychological and Behavioral Development in the Department of Public Health, Sun Yat sen University, during 2017 and 2018. At the baseline and follow up periods, a self report questionnaire (completed by parents) was administered in order to collect demographic information related to the children, the survey included the Social Responsiveness Scale (SRS), Strengths and Difficulties Questionnaire (SDQ), Social Communication Questionnaire (SCQ), Screen for Child Anxiety Related Emotional Disorder (SCARED) and the Swan son Nolan and Pelham, Version IV Scale(SNAP-IV). Results: At baseline, compared with children in ordinary schools, the total score of SRS (114.56±6.02, 93.63 ±3.82) and its subscale scores (social awareness:13.54±0.71, 11.02±0.45; social cognition:22.73±1.16, 18.19±0.73; social interaction:37.47±2.12, 30.40±1.35; autistic mannerisms: 23.11±1.70, 19.02±1.08) were higher in children attending special education institutions, as well as the SCQ total score (20.37±1.60, 12.92±1.02) and its subscale scores(social interaction domain:8.77±0.92, 4.23±0.58; social communication domain:6.07±0.55, 4.19±0.35)( P <0.05). Further comparison of baseline and follow up results showed no significant difference in time effect or in the interaction between time and the educational environment( P >0.05). Conclusion Compared with special education institutions, school aged children with ASD in ordinary schools had lower levels of social impairment. During the one year observation period, there was no correlation between the educational environment and changes in symptoms of children and their parents. Parents should choose an appropriate educational environment according to the children s abilities, and ordinary schools and teachers should be prepared for inclusive education.

Objective: To investigate the association between parenting style and sleep problems among school aged children with autism spectrum disorder (ASD). Methods: A total of 98 children with ASD aged 6-10 years old and 98 age and gender matched typically developing (TD) children from mainstream schools were recruited. Parenting style and sleep problems were measured via Parent Behavior Inventory (PBI) and Children s Sleep Habits Questionnaire(CSHQ), respectively. The symptom severity and intelligence level were also evaluated. Generalized linear model was used to analyze the relationship between parenting style and sleep problems. Results: There was no statistically significant difference in the parenting style of the two groups of children( P > 0.05 ); weekend sleep time of children with ASD was significantly shorter than that of the TD group [(9.1±0.7)(9.5±0.8)h, P < 0.01 ], and the score of sleep onset delay was significantly higher than that of the TD group[(1.8±0.7)(1.5±0.7), P <0.01]. However, there was no statistically significant difference in the incidence of total sleep problems and various problems between the two groups of children( P >0.05). The parental support/engagement of children with ASD was negatively associated with the total score of sleep problems( β=-2.68, 95%CI =-4.88--0.47), bedtime resistance ( β=-1.65, 95%CI =-2.54--0.77) and sleep anxiety( β=-1.01, 95%CI =-1.70--0.32). The parental hostility/coercion was positively correlated with score of daytime sleepiness( β=1.41, 95%CI =0.53-2.29)( P <0.05). Conclusion Parenting style of support/engagement is associated with lower sleep problems in children with ASD, while hostile/coercion is associated with higher sleep problems. It should be improve parental style to reduce the sleep problems in children with ASD.

Objective:To evaluate the outcomes of aortic root repair in acute type A aortic dissection (ATAAD) with aortic sinus involvement.Methods:The clinical data of patients with ATAAD involving the aortic sinus and an aortic root diameter of ≤45 mm who were treated from January 1, 2015, to December 31, 2016, were collected. Patients were divided into group A (involvement of one aortic sinus or part of one aortic sinus) and group B (involvement of more than one aortic sinus). The effectiveness of aortic root repair in ATAAD with sinus involvement was analyzed by comparing the preoperative imaging characteristics and postoperative results between the two groups.Results:The study cohort comprised 155 patients, including 100 patients in group A and 55 in group B. There were no differences between the two groups in baseline characteristics, aortic root diameter, 30-day mortality, and complication rates. During an average follow-up of(49.1±14.6) months, there was no difference between the two groups in the survival rate (92.0% vs. 89.5%, P=0.61). The aortic root diameter at follow-up showed no progressive expansion compared with preoperatively in either of the two groups[(38.1±3.6) mm vs. (37.9±3.5)mm, P=0.92, A; (38.4±4.1) mm vs. (38.3±3.6) mm, P=0.74, B]; furthermore, there was no difference between the two groups in aggravation of aortic regurgitation. Conclusion:Aortic root repair achieves satisfactory medium-term outcomes in ATAAD with more than one aortic sinus involved, but the long-term outcomes need to be evaluated.

Objective To evaluate efficacy of healthy canteen based-nutritional health promotion so as to provide evidence for popularization and application.Methods A total of 429 college professors and administrative staffs with a healthy canteen were selected as the intervention group in 2012 in Changzhou,and another 947 counterparts without a healthy canteen were selected as the control group.Those of the intervention group was further assigned to the ≥2 times/week and＜2 times/week subgroups.Blood pressure,fatty liver,serum triglycerides,blood glucose,total cholesterol,uric acid,low-density lipoprotein cholesterol,high-density lipoprotein cholesterol and body mass index(BMI)were tested before and after the intervention.Results After the intervention,the mean serum glucose[(5.06±0.62)mmol/L],uric acid[(310.57 ± 71.79)μmol/L],total cholesterol[(4.88 ± 0.86)mmol/L],triglycerides[(1.39 ± 0.67)mmol/L]and low-density lipoprotein cholesterol[(2.51 ±0.62)mmol/L]of the intervention group were significantly decreased(t values were 7.513,2.126,2.062,3.731 and 8.891,respectively; all P＜0.05),and mean high-density lipoprotein cholesterol[(1.43±0.34)mmol/L]were significantly increased(t=-2.309,P＜0.05).After the intervention,mean serum glucose and uric acid of the control group were significantly increased(t values were-3.491 and-7.703,respectively; both P＜0.05),although there was no statistically significant difference of mean serum triglycerides,total cholesterol,low-density lipoprotein cholesterol and high-density lipoprotein cholesterol in the control group before and after the intervention(all P＞0.05).The abnormality rates of serum glucose,uric acid,total cholesterol,triglycerides,low-density lipoprotein cholesterol and BMI as well as the incidence of hypertension of the intervention group were significantly decreased after the intervention(x2 values were 4.202,3.940,4.031,7.305,59.422,4.273 and 7.385,respectively; P＜0.05).In the control group,although the abnormality rate of serum uric acid and the incidence of fatty liver were significantly inclined after the intervention(x2 values were 23.740 and 7.408,respectively; both P＜0.05),there were no significant difference of abnormal serum triglycerides,glucose,total cholesterol,low-density lipoprotein cholesterol and BMI as well as the incidence of hypertension before and after the intervention(all P＞0.05).Mean serum triglycerides[(1.15 ±0.68)mmol/L]and low-density lipoprotein cholesterol[(2.4 1±0.60)mmol/L]in the ≥2 times/ week subgroup were significantly lower than those of the＜2 times/week subgroup(t values were-4.884 and-2.513,respectively; both P＜0.05),and mean high-density lipoprotein cholesterol[(1.46±0.33)mmo]/L]of the ≥2 times/week subgroup was significantly higher than that of the＜2 times/week subgroup(t=2.032,P＜0.05).The abnormality rates of serum total cholesterol,triglyceride and low-density lipoprotein cholesterol in the ≥ 2 times/week subgroup were significantly lower than those in the＜2 times/week subgroup(x2 values were 3.963,9.947 and 4.589,respectively; all P＜0.05).Conclusion Healthy canteen based-nutritional health promotion model may provide an effective method to prevent and control the development of noncommunicable chronic diseases.