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.

Objective To investigate the value of combined therapy for hand post-burn scars.Methods We retrospectively analyzed 78 hands post-burn scars in 46 cases from 2007 to 2011.A mong them,scar contracture releasing,scar excision,free skin grafting and fixation with Kirschner's pins were performed in 38 hands,scar excision and regional flat transfer were performed in 18 hands,scar excision and skin grafting were performed in 18 hands,abdominal expanded flap transplantation and scar excision were performed in 4 hands.All patients received elastic sleeve pressure therapy,sili cone gel for external application and function training.Within six months after the operation,52 hands received drug delivery by wax therapy,16 hands incision with scar proliferation received drug injection into scar.We followed up all patients from half a year to three years after the treatment to observe the recovery of the appearance and function of the hands.Results We mainly chose surgery,elastic sleeve pressure therapy,silicone gel for external application,drug injection into scar,wax therapy,function training and so on treating the hand post-burn scars and found that the joins deformities caused by scar contracture were largely or totally corrected.The function and appearance were satisfying.Conclusions It is a good method to treat hand scars by surgery and post-surgery combined physical rehabilitation therapy,which deserves to popularization.

AIM:To study the effects of lipopolysaccharide(LPS), interleukin-6(IL-6)and tumor necrosis factor ? (TNF?) on tissue factor(TF) expression of astrocytes. METHODS:Astrocytes were identified with anti-glial fibrillary acidic protein antibody. The TF activity of cell lysate was measured with one stage clotting assay. RESULTS:TF activity of astrocytes of LPS,IL-6,TNF? groups were obviously higher than that of the control group( P

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.

Bones are important supporting structure of human body. Impulse response method is a kind of vibration analysis technology which can be used to analyze dynamic characteristics of human bones. Along with the continuous development of signal processing and computer technology, impulse response method is applied more and more in bone biomechanics research. The basic principle of impulse response method and its progress in bone biomechanics research are briefly summarized in this paper. The article also discussed the pulse response method research direction.

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.

ObjectiveTo investigated the effect of post-operative primary site radiotherapy on stage Ⅳ neuroblastoma.Methods From Jan 2003 to Dem 2010,47 newly diagnosed stage Ⅳ neuroblastoma treated in Sun Yet-sen university cancer center.The treatment protocol for these patients were induction chemotherapy 4- 12 cycles,followed by surgery if possible,then 4-6 cycles consolidation chemotherapy and/or primary site radiotherapy and maintenance immunotherapy.The median age was 4 years old,the median induction chemotherapy cycles was 5.37 patients received resection of the primary tumor (total resection and nearly gross resection).24 out of 37 received primary site radiotherapy.ResultsThe followup rate was 89％.34 cases were followed up more than 36 months.For patients with or without postoperative primary site radiotherapy,the local recurrence rate were 13％ ( 3/24 ) and 54％ ( 7/13 ),respectively ( P =0.016),the 3-year local control rate were 84％ and 47％,respectively ( χ2 =7.95,P =0.005 ).The 3-year overall survival rate were 56％ and 28％,respectively ( χ2 =5.44,P =0.020 ). There was no severe radiation side effect. Conclusions This study indicated that postoperative primary site after induction chemotherapy and surgery could reduce the local recurrence rate and possibly improve the overall survival rate of stage Ⅳ neuroblastoma.

Objective: To investigate the effect of gross total resection on the local control and survival of patients with stage IV neuroblastoma (NB) and analyze the extent of surgical resection of primary tumors that affects patient survival. Methods: A total of 96 patients with stage Ⅳ NB who were admitted to the Sun Yat-Sen University Cancer Center between January 2000 and December 2011 were analyzed. The patients were treated with combined-modality therapy, including chemotherapy, surgery, and/or radiotherapy. The patients were divided according to the extent of surgical resection of primary tumor into the following groups: group A, biopsy or tumor removal of less than 50% of the primary lesion; group B, incomplete resection of more than 50% but less than 90% of the lesion; group C, removal of more than 90% of the lesion; and group D, complete resection with or without macroscopic residual tumors. The survival rates of each group were analyzed. Results: The median age of the 96 patients was 4.4 years, ranging from 1.2-18.8 years. The overall 3-year progression-free survival (PFS) and overall survival (OS) of the total patients were 32.8% and 36.7%, respectively. A total of 24 cases were assigned in group A, 10 in group B, 23 in group C, and 39 in group D. Subgroup analysis revealed that the 3-year PFS rate was 17.5% for group A, 20.0% for group B, 45.1% for group C, and 40.5% for group D. The PFS rates were not statistically significant-ly different between groups A and B (P=0.352) and between groups C and D (P = 0.792). However, the OS was higher in groups C and D than that in groups A and B. The 3-year PFS rates were 42.2% and 17.8% for groups C and D (P<0.001), respectively. Conclu-sion: Resection extension of more than 90% of the primary tumor combined with chemotherapy and (or) radiation therapy can improve the survival of patients with stage Ⅳ NB. However, this treatment modality does not affect the treatment outcomes for minimal gross tu-mor residuals.

Objective: To investigate the relationship between health literacy and sports injuries among high school students with athletic specialization, so as to provide theoretical basis for the intervention of sports injury occurrence of sports special students. Methods: A total of 443 high school students with athletic specialization aged 16-18 years old from 21 urban and rural areas in Shangrao City, Ganzhou City and Nanchang City of Jiangxi Province were selected by convenient sampling method from March to April 2023, and the health literacy and sports injury incidence were investigated. The assessment of sports injury was based on the Monitoring Method of Child and Adolescent Injury, and the assessment of health literacy level was conducted using the Interactive Health Literacy Questionnaire of Chinese Adolescents. χ 2 test was used to compare the reported rate of sports injuries among the demographic and sports training groups and the correlation between health literacy and sports injuries. Binary Logistic regression analysis was used to infer the correlation between the health literacy level of high school students with athletic specialization and the occurrence of sports injuries. Results: The prevalence of sports injury was 49.4% in high school students with athletic specialization. Binary Logistic regression analysis showed that the risk of sports injury of high school students with athletic specialization with medium and low level of health literacy was significantly increased compared with high level (medium level: OR = 1.98,95% CI =1.12-3.51; low level: OR =2.08, 95% CI =1.18-3.68), high school students with athletic specialization in low level of health awareness of sports injury risk was higher than other dimensions of health literacy level (middle level: OR =2.77, 95% CI =1.48-5.19; low level: OR =2.01, 95% CI =1.04-3.88)( P <0.05). The results of stratified analysis showed that among male students with athletic specialization and students with track and field, students with moderate/low overall health literacy had a higher risk of sports injuries compared to high level students (male students: low level, OR =2.46, 95% CI =1.15-5.28; track and field: intermediate level, OR =2.17, 95% CI =1.06-4.43, low level, OR =2.09, 95% CI =1.02-4.30; P <0.05). Conclusions There is a correlation between the health literacy level of high school students with athletic specialization and the occurrence of sports injuries. Students health awareness should be improved to reduce the risk of sports injuries.

Objective: To investigate the association between consumption of milk tea beverages and other sugary beverages with insomnia symptoms among college students, so as to the provide reference for promoting sleep quality among college students. Methods: From September to November 2023, a convenience sampling method was used to select 15 440 college students from seven universities in Shanghai, Jiangxi Province, Hubei Province, and Shanxi Province. A self developed questionnaire and the Insomnia Severity Index were used to assess milk tea beverage consumption, other sugary beverages and insomnia symptoms. Univariate analysis of insomnia symptoms among college students was performed using Chi square tests and Cochran-Armitage trend χ 2 tests. Multivariate Logistic regression analysis was conducted for the association between milk tea and other sugary beverage consumption with insomnia symptoms. Results: The detection rates of insomnia symptoms among college students was 40.83%. The frequency of consumption of different milk tea and various sugary drinks (juice, tea, milk, sodas,yogurt, functional drinks, coffee) per week was related to the detection trend rate of insomnia symptoms of college students ( χ 2 trend =38.38, 47.66, 74.16, 32.44, 65.78 , 38.71, 35.94, 91.59, P < 0.01 ). Multivariate analysis indicated that compared to individuals with no milk tea consumption, college students engaging in milk tea consumption had a significantly increased risk of insomnia symptoms ( OR =1.24, P <0.05). Students consuming milk tea at low to moderate frequencies (1-3, 4-5 times per week) showed a higher risk of insomnia symptoms compared to those with no consumption ( OR =1.20, 1.54, P <0.05). Furthermore, higher levels of milk tea consumption were significantly associated with insomnia symptoms (1 501-2 999 mL, OR =1.22; ≥3 000 mL, OR =1.36), and the consumption of other sugary beverages were also associated with insomnia symptoms of college students ( OR =1.10-1.55) ( P <0.05). Conclusions There is a relationship between consumption of milk tea beverage other sugary beverages with insomnia symptoms among college students. Colleges should regularly conduct dietary health education seminars to improve sleep quality among college students.