Objective To investigate the autistic symptoms or autistic trait in the children with attention deficit hyperactivity disorder(ADHD) for facilitating the development of appropriate interventions.Methods Sixty-two 6-12-year-old high-functioned autism spectrum disorder (ASD),ADHD and typically developing (TD) children were assessed respectively using Chinese-version social responsiveness scale (SRS),and ADHD core symptoms were assessed in the ADHD children at the same time.Results ASD group＞ADHD group＞ TD group on the SRS total raw score and the five dimensions scores as well(P＜0.01).ASD,ADHD and TD group scored respectively 92.43±19.17,65.66±19.86 and 38.40±10.68 on the SRS total scale.The SRS total raw score of ADHD group exceeded the TD group for 2.55 standard deviant (SD) and with social communication (2.00 SD) and autistic mannerism (2.71 SD) deviating the most.22.58％ (14 out of 62) children with ADHD scored above the threshold on the SRS total raw score which was significantly higher than that in the TD group(P＜0.01).There were nonsignificant differences in the ADHD core symptoms between ADHD± children (with the SRS total raw score ≥85)and ADHD-children(with the SRS total raw score＜85) (P＞0.01).Conclusion Children with ADHD appear more ASD symptoms than the TD children and a considerable proportion of them reach the SRS diagnostic cut-off point.

Objective To investigate the effect of Miao medicine Jinwu Jiangu decoction containing serum freeze-dried powder on levels of IL-17,ACT1 and TRAF6 in human rheumatoid arthritis fibroblast like synoviocytes (RA-HFLS).Methods Rabbits were randomly divided into blank control group (recieving normal saline of the same volume),Jinwu Jiangu decoction high-dose,medium-dose and low-dose group (intragastrically administrated with Jinwu Jiangu decoction at doses of 14.4,4.8 and 2.4 g·kg-1,respectively),tripterygium glycosides group and prednisone group (treated with human equivalent dosage).RA-HFLS primary cell model was established in the experiment.ELISA method was used to detect effect of lyophilized powder on IL-17 secretion.Expression of ACT1,TRAF6 mRNA was detected by RT-PCR.Results Compared with the blank control gorup,IL-17 in the supernatant of each medication administration group was significantly decreased (all P<0.01),and it was decreased most significantly in Jinwu Jiangu decoction high-dose and medium-dose group.IL-17 was down-regulated more significantly in high-dose group than that in tripterygium glycosides group (P<0.01).Compared with the blank control group,TRAF6 and ACT1 mRNA expression level of each medication administration group were significantly decreased (all P<0.01),and in the high-dose group that were decreased most significantly,but not significantly different as compared with tripterygium glycosides group and prednisone group (P>0.05).Conclusion Freeze-dried powder of Jinwu Jiangu decoction can decrease the secretion of IL-17 and down-regulate expression of ACT1,TRAF6 with RA-HFLS.

OBJECTIVE: To carry out carrier screening for Spinal muscular atrophy (SMA) in reproductive-aged individuals from Dongguan region and determine the carrier frequency of SMN1 gene mutations. METHODS: Reproductive-aged individuals who underwent SMN1 genetic screening at the Dongguan Maternal and Child Health Care Hospital from March 2020 to August 2022 were selected as the study subjects. Deletions of exon 7 and 8 (E7/E8) of the SMN1 gene were detected by real-time fluorescence quantitative PCR (qPCR), and prenatal diagnosis was provided for carrier couples by multiple ligation-dependent probe amplification (MLPA). RESULTS: Among the 35 145 subjects, 635 were found to be carriers of SMN1 E7 deletion (586 with heterozygous E7/E8 deletion, 2 with heterozygous E7 deletion and homozygous E8 deletion, and 47 with sole heterozygous E7 deletion). The carrier frequency was 1.81% (635/35 145), with 1.59% (29/1 821) in males and 1.82% (606/33 324) in females. There was no significant difference between the two genders (χ² = 0.497, P = 0.481). A 29-year-old woman was found to harbor homozygous deletion of SMN1 E7/E8, and was verified to have a SMN1∶SMN2 ratio of [0∶4], none of her three family members with a [0∶4] genotype had clinical symptoms. Eleven carrier couples had accepted prenatal diagnosis, and one fetus was found to have a [0∶4] genotype, and the pregnancy was terminated. CONCLUSION This study has determined the SMA carrier frequency in Dongguan region for the first time and provided prenatal diagnosis for carrier couples. The data can provide a reference for genetic counseling and prenatal diagnosis, which has important clinical implications for the prevention and control of birth defects associated with SMA.
Humans ; Child ; Pregnancy ; Male ; Female ; Adult ; Homozygote ; Sequence Deletion ; Prenatal Diagnosis ; Genetic Testing ; Muscular Atrophy, Spinal/genetics* ; Survival of Motor Neuron 1 Protein/genetics* ; Genetic Carrier Screening