OBJECTIVE: To explore the clinical features and genetic etiology in a child with Hereditary hemorrhagic telangiectasia (HHT) complicated by growth hormone deficiency. METHODS: A child presented at Yantai Yuhuangding Hospital in October 2014 for "short stature for over 4 years" was selected as the study subject. Peripheral venous blood samples were collected from the child and his parents for genomic DNA extraction and whole-exome sequencing (WES). The pathogenicity of the candidate variants was assessed by following the guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025-003). RESULTS: The patient, a 4-year-and-2-month-old male, presented with short stature and recurrent epistaxis since early childhood. Initial diagnosis of GHD was made via growth hormone stimulation testing. During follow-up, telangiectatic macules and polycythemia gradually appeared. WES revealed that he has harbored a heterozygous c.1807G>A (p.Gly603Arg) variant of the ENG gene, which was absent in both parents and classified as likely pathogenic based on ACMG guidelines. Sanger sequencing confirmed the candidate variant to be de novo. CONCLUSION Patients with HHT combined with GHD may exhibit clinical features such as short stature, telangiectasia, and arteriovenous malformations. The heterozygous c.1807G>A (p.Gly603Arg) variant of the ENG gene probably underlay the pathogenesis of the disease in the proband. Above finding has expanded the mutational spectrum of the ENG gene.
Humans ; Telangiectasia, Hereditary Hemorrhagic/complications* ; Male ; Child, Preschool ; Phenotype ; Endoglin/genetics* ; Mutation ; Human Growth Hormone/deficiency* ; Exome Sequencing

Objective:To investigate the expression of Galectin-7 in the bronchial mucosa of asthmatic children and its effect on the apoptosis of bronchial epithelial cells.Methods:Bronchial mucosa of asthmatic children and children with bronchial dilation were collected and the expression of Galectin-7 was detected by Western blot.Human bronchial epithelial cells were cultured in vitro,the cells were transfected with Galectin-7 siRNA to interfere the Galectin-7 expression,while siRNA control was transfected as the control group.The experiment was divided into normal group,control group,infected group and experimental group.The normal group was normal human bronchial epithelial cells,the cells in the control group was transfected with siRNA control,the infected group was infected with RSV,the experimental group was transfected with Galectin-7 siRNA and infected with RSV.After 24h culture,Galectin-7 protein expression and cell apoptosis were detected in the cells of each group.Western blot was used to detected the expression of Bcl-2,Bax,STAT3 and p-STAT3.Results:The expression of Galectin-7 in bronchial mucosa of asthmatic children was significantly higher than that of the non asthmatic children (P＜0.01).There was no significant difference in the Galectin-7 level between the normal group and the control group (P＞0.05).The levels of Galectin-7,Bax and apoptosis in the infected group were significantly higher than those in the normal group,while the levels ofp-STAT3 and Bcl-2 were significantly lower than those in the normal group (P＜0.01).The levels of Galectin-7,Bax and apoptosis in the experimental group were significantly lower than those in the infected group,while the levels of p-STAT3 and Bcl-2 were significantly higher than those in the infected group (P＜0.01).Conelusions:The expression of Galectin-7 was up-regulated in the bronchial mucosa of asthmatic children,which might promote the apoptosis of bronchial epithelial cells by activating STAT3.

Child ; Embolization, Therapeutic ; Hemorrhage ; Humans ; Purpura, Thrombocytopenic, Idiopathic ; Spleen ; Splenectomy ; Splenic Artery

Objective　To investigate the protective role of glycyrrhizin on experimental obstructive nephropathy in rats. Methods 　The model of obstructive nephropathy was induced by unilateral uretera l ligation in rats and the animals were sacrificed at 12 h and 3,14,28,56 d resp ectively after operation. Specimens were taken from the cortex of kidney. In re nal stroma, routine morphological examinations and counts of karyocyte were made , the expression of collagen type Ⅰand type Ⅲ were also detected by immunohist ochemical staining,then, semi-quantified by EIG image analysis system. Results　 A progressive fibrosis was observed in renal stroma of the mod el. 12 h after operation, counts of karyocyte increased markedly i n renal stroma in groups of treatment and pretreatment with glycyrrhizin compar ed with that in sham-operation group（P<0.05）,and decreased distinctly compared with that in saline treated group（P<0.01）, but no significant di fference was found between treatment group and pretreatment group（P>0.05） ;3 d after operation, in group treated or pretreated with glycyrrhizin. The e xpression of collagen type Ⅰ increased markedly compared with that in sham-o peration group（P<0.01） in renal stroma, but decreased notably compare d with that in saline treated group（P<0.01）,while, there was not any diffe rence between treatment group and pretreatment group（P>0.05）. The expressi on of collagen type Ⅲ in renal stroma was almost the same as that of coll agen type Ⅰ. Conclusion　Glycyrrhizin has some therapeutical bu t no preventive effect to experimental obstructive nephropathy in rats.