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Objective:To identify the genetic variation in a mucopolysaccharidosis type Ⅱ(MPS Ⅱ)family, and conduct a functional study of iduronate-2-sulfatase(IDS): c.323A>C.Methods:A five-generation MPS Ⅱ family of 83 individuals including 4 patients from northern China was collected. Urine mucopolysaccharide and Alder-Reilly body were tested to assist the clinical diagnosis of MPS Ⅱ. IDS enzyme activity was detected on core family members. By the whole exome sequencing of a MPS Ⅱ patient in this family and bioinformatics analysis, the variant was screened and further identified by PCR-Sanger sequencing. Finally, to validate the function of the variant in vitro, the wild-type IDS overexpression plasmid(pCMV-hIDS-WT)and the IDS overexpression plasmid carrying the mutation site(pCMV-hIDS-c.323A>C)were transfected into COS-7 cells and the IDS activity was detected. Results:The proband(Ⅳ3)and Ⅳ4 were diagnosed as MPS Ⅱ by urine mucopolysaccharide, Alder-Reilly body, and IDS enzyme activity tests. Ⅳ3, Ⅳ4, Ⅲ19, and Ⅲ32 were determined to carry IDS: c.323A>C missense variant through the whole-exome sequencing, and diagnosed as MPS Ⅱ. Meanwhile, Ⅱ2, Ⅱ4, Ⅱ8, Ⅱ12, Ⅱ14, Ⅲ5, Ⅲ7, Ⅳ14 in the MPS Ⅱ family carried IDS: c.323A>C missense variant, and were excluded as MPS Ⅱ. The in vitro experiment in COS-7 cells showed that the missense mutation led to a significant decrease in IDS enzyme activity. Conclusion:The variant IDS: c.323A>C: p.Y108S significantly decreases the activity of IDS enzyme in vivo and in vitro, and it is identified as a pathogenic variant for MPS Ⅱ.
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Objective:To investigate the effects of ear holographic tongbian scraping on the constitution, related symptoms and immune function of the population with Qi-deficiency.Methods:From April 2020 to June 2020, 80 subjects judged as Qi-deficiency by the "Traditional Chinese Medicine constitution test" in Suzhou Traditional Chinese Medicine Hospital Affiliated to Nanjing University of Chinese Medicine were recruited offline and online. They were divided into control group and experimental group by random number table method, with 40 cases in each group. On the basis of online health education, the control group received online health education, while the experimental group was given ear holographic tongbian scraping, once a week, 4 times as a course of treatment, a total of 3 courses. Related symptom scores, Qi-deficiency transformation scores, peripheral blood CD4 + proportion, CD8 + proportion, CD4 +/CD8 + ratio were compared between two groups. Results:Totally 38 cases were included in experimental group and 34 cases in control group. After intervention, symptom scores of fatigue, shortness of breath, easy to catch a cold, laziness to speak, low voice and Qi-deficiency transformation scores were 3.26 ± 0.76, 2.92 ± 0.82, 3.08 ± 0.82, 2.66 ± 0.97, 2.71 ± 0.80, 46.16 ± 17.96 in experimental group and 4.12 ± 0.41, 3.76 ± 0.55, 3.50 ± 0.56, 3.65 ± 0.65, 3.18 ± 0.67, 56.88 ± 10.80 in control group, the differences were statistically significant ( t values were -6.02 - -2.51, all P<0.05). Peripheral blood test results also showed that the proportion of CD8 + was 24.76(19.92, 28.23)% in experimental group and 27.19(24.39, 31.57)% in control group, the difference was statistically significant ( Z=-2.25, P<0.05). Conclusions:Ear holographic tongbian scraping can regulate the Qi-deficiency constitution and improve the immune function of people with Qi-deficiency.
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Objective@#To investigate anxiety and depression among young acne patients, to provide a reference for the comprehensive treatment and to improve the quality of life of the patients.@*Methods@#Totally 157 students with acne of a major skin disease (acne group) and 157 healthy subjects (control group) selected from 244 and 297 students with and without acne were evaluated with the Zung’s Depression Self-rating Scale (SDS) and the Zung’s Anxiety Self-rating Scale(SAS). The SDS and SAS scores at different levels of sex and disease state were compared between two groups.@*Results@#The positive detection rate of depression symptoms and anxiety symptoms in acne group was 59.20% and 69.40%,respectively, and the combined detection rate of anxiety and depression symptoms was 52.90%; the detection rate of depression symptoms and anxiety symptoms in control gruop was 32.50% and 25.50%,respectively, with anxiety and depression symptoms accounted for 20.40%, the differences were statistically significant(χ2=22.63, 60.81, 35.69, P<0.01). Compared with acne group, there were higher SDS and SAS scores in acne group(Z=5.95, 9.16, P<0.01). In the acne group, the SDS and SAS scores of males were higher than females. There were significant differences in the SDS and SAS scores of the samples with different incidence(H=55.67, 43.83, P<0.01).@*Conclusion@#Students with acne are more likely to suffer from depression and anxiety. Compared with healthy population, moderate and severe acne patients have more serious depression and anxiety symptoms. It is suggested that the medical staff in school should take appropriate psychological intervention and treatment to facilitate the comprehensive rehabilitation of the young students with acne.
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Objective To evaluate effect of comprehensive health intervention on serum lipids in obese children.Methods Totally 67 obese children (obesity group) who were treated in Baoan People's Hospital re-ceived one-year comprehensive health interventions. Another 65 normal-body-weighted children were recruited as control group.The changes of body height,weight,BMI,blood pressure (BP),and serum lipids were recorded before and after interventions.Results Compared with the control group,the weight,BMI,BP,TG,and LDL-C in the obesity group significantly decreased (P<0.05 or P<0.01).The BMI,BP,and TG in the obesity group were significantly improved after intervention (P<0.05 or P<0.01).HDL-C was significantly higher than the pre-intervention level (P<0.05),while was significantly lower than that in the control group (P<O.05).Con-clusion Comprehensive health intervention can remarkably decrease the body weight and BMI and improve serum lipids in obese children,and therefore plays an important role in modifying the metabolism disorders.
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Objective: To investigate the treatment effect of rational enteral nutrition in hyperglycemia after severe brain injury.Methods: 60 patients were randomly divided into control group and study group.The control group was given homogenized diet and the study group was given low carbohydrate formula.Blood glucose,ALB,K+,Na+,Cl-,TG,TC were measured before and after therapy.Results: After the nutrition treatment,patients biochemical indices of fasting blood-glucose,blood sugar 2 hours after meal in study group were significantly lower than control group(P
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Objective: To compare the effect of enteral and parenteral nutrition on critically ill patients. Methods: 48 patients with critically ill in ICU were randomly divided into EN group and PN group.The nutritional index and the complication were compared between groups. Results: The levels of Hb,TP and ALB were significantly increased after EN,and the rates of complications in PN group were higher in PN group than that in EN group. Conclusion: Compared to parenteral nutritional support,enteral nutritional support can improve the nutritional condition and have less complications in critically ill patients.