1.Effect of aloe gel on the wound healing rate and the expression of EGF and bFGF of radiative dermatitis erythematase in rats
Xiaoping LIU ; Jinli LU ; Suge WU ; Fang YANG ; Minzhong LI
Journal of Xi'an Jiaotong University(Medical Sciences) 1982;0(01):-
Objective To study the effect of aloe gel on the wound healing rate and the expression of epidermal growth factor(EGF) and basic fibroblast growth factor(bFGF) of radiative dermatitis erythematase in rats.Methods The rat models of radiative dermatitis erythematase(vesicular reaction) were established.With the normal healing group as the control group,aloe gel was used on the radiative dermatitis erythematase of rats in the experimental group.At the 2,6,10,18 and 24d postinjury,the protein of EGF and bFGF were stained immunohistochemically and analysed;the wound healing rate was also measured.Results ① The wound healing rate: the wound healing rate of experiment groups was significantly higher than that of the control group at 10th day and 18th day(P
2.Different clinical phenotypes and genetic characteristics of five patients with DiGeorge syndrome
Jing WU ; Ge MENG ; Qianya XU ; Suge HAN ; Yaqin HOU ; Ying BAI ; Wei MA ; Huimin KONG ; Xiangdong KONG
Chinese Journal of Endocrinology and Metabolism 2020;36(6):485-491
Objective:To identify the clinical phenotypes, diagnosis, and treatment of five children with DiGeorge syndrome finally diagnosed by gene, with review of the literature.Methods:The clinical data of five children with DiGeorge syndrome admitted to our hospital were collected and sorted out. Copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technology was used to diagnose the genetic etiology of the children. The relationship between phenotypes and genotype among these five children were emphatically compared.Results:The five children collected in this study were all younger than 6 months. The course of the disease was more than 2 months to 1 year. Most of the first symptoms were convulsions and/or repeated infection. All of them had different degrees of growth retardation, with or without special facial features, epilepsy, congenital heart disease, etc. The similar blood ionized calcium levels revealed hypocalcemia, but the frequency and severity of convulsions were different. The copy number variation of chromosome 22q11.21 was detected in all these five children, and the deletion fragment was between 2.56-2.6 Mb, which was mostly coincident with the classical deletion region of DiGeorge syndrome (chr22: 19009792-21452445) recorded in Decipher database. One case was suggested to be a novel mutation, and the rest were of unknown origin.Conclusions:DiGeorge syndrome has great clinical heterogeneity. CNV-seq based on NGS technology is not only conducive to accurate genetic etiological diagnosis, but also helpful for understanding the corresponding relationship between clinical phenotype and genotype of hereditary syndrome, improving clinicians′ understanding and avoiding misdiagnosis.