ABSTRACT
Objective@#To investigate the characteristics of 25(OH)D level in children with ASD and its correlation with clinical features.@*Methods@#A total of 196 children with ASD who received outpatient and inpatient rehabilitation training from January 2017 to January 2019 were included in ASD group, and 178 healthy children who visited the hospital during the same period were included in healthy control group. Differences in 25(OH)D levels and general data between study group and healthy control group were compared. In addition, ASD group was divided into 25(OH)D normal group and abnormal group in accordance with 25(OH)D level (≥30 ng/mL). Differences in general data, total score of CARS scale and factor scores were compared between two groups. Finally, the correlation between serum 25(OH)D level and CARS total score and factor scores of children with ASD was evaluated.@*Results@#25(OH)D level in ASD group was significantly lower than that in healthy control group (P<0.01). The incidence of sleep disorder, dietary bias, vomiting, constipation and diarrhea in children with ASD was statistically significant compared with that of healthy children (P<0.01); there were statistically significant differences in breastfeeding, sleep disorder, dietary bias and diarrhea between 25(OH)D normal group and abnormal group (χ2=4.97，8.69,6.67,3.98,P<0.05); there were statistically significant differences in 10 aspects including CARS total score, interpersonal relationship, imitation, emotional response, physical use ability, relationship with inanimate objects, adaptation to environmental changes, visual response, auditory response and general impression (P<0.05); there was a significant negative correlation between serum 25(OH)D level and CARS total score in children with ASD (r=-0.32, P<0.01).@*Conclusion@#Breastfeeding could reduce the risk of 25(OH)D abnormalities in children with ASD. 25(OH)D reduction would cause sleep disorder, dietary bias and gastrointestinal problems, while dietary bias and gastrointestinal problems would affect 25(OH)D uptake and absorption. 25(OH)D might be related to the occurrence of ASD in children. Serum 25(OH)D level could be used as a reference index for the severity of ASD in children.
ABSTRACT
Objective To detect genetic causes of seizures and developmental retardation in 60 patients with abnormal head magnetic resonance imaging(MRI) ,and to analyze the clinical manifestations and head MRI manifestations in carriers of arylsulfatase A (ARSA) gene mutation.Methods The blood samples of children and genomic DNA were collected.Sixty cases of children with suspected metachromatic leukodystrophy were tested (MLD) by using the second generation sequencing technology.The genotype and phenotype and head MRI findings were analyzed.Results Of the 60 cases of children, 15 cases with gene mutations.There were 7 kinds of ARSA gene mutations, and 3 of them, c.1178C ＞ G, c.1055A ＞ G and c.883 G ＞ A were pathogenic.The others were single nucleotide polymorphism(SNP), which had no relationship with this disease.One of the patients carried only SNP, and 14 of them were carrying pathogenic mutation, c.1055A ＞ G (53.33％) ,c.1178C ＞ G (40.00％) were more common,and c.1055A ＞ G mutation was in 8 cases, of which 5 cases were late-onset type.One case of the 3 patients who were late infantile type was carrying c.1178C ＞ G mutation at the same time.All the eight cases had retardation.One case had hydrocephalus, and 5 cases had epilepsy.All of the 6 patients with c.1178C ＞ G were late-infantile type, and had retardation, including 4 cases of epilepsy, c.883G ＞ A mutation in 1 case,was late-infantile type,and the first symptom was binaural deafness and mental retardation.Three different types of mutations showed no significant difference in brain MRI.Conclusions There are 14 patients who were diagnosed as MLD.c.1178C ＞ G and c.883G ＞ A were late infantile type,and c.1055A ＞G was mostly late-onset type.The changes in head MRI caused by different types of ARSA gene mutations were of no significant differences in performance.
ABSTRACT
The effect of gelatin on anaero-cultivation of Bifidobacterium adolescent is and stabilization of its living cell in dried preparation was investigared. It was shown that the well-distributed mixture of gelatin and medium could have a cushioning effect on pH reduction resulting from acid-production while incubating, and the dried mixture comprising living cell of bifidobacterium adolescentis was prepared, in which the stability and viability of cell come from cultures of gelatin mixture was increased compared with that without gelatin mixture. It was shown that oxygen toxicity to anaerobic cell was well reduced because of cell immobilization by the gel mixure after drying with saccharide substance , and then fermentable dynamics in 50L fermentor was tested as well as the relationship of growth kinetics, pH, dissolved oxygen rate, and content of soluble solids.