ABSTRACT
Acromicric dysplasia(AD) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and radiological characteristics. The clinical data and genetic test results of one patient with AD in our hospital were analyzed, and the clinical characteristics of this case were summarized. The main manifestations of the child were short stature, short hands and feet, mild facial dysmorphism, short and stubby metacarpals and phalanges on hand X-ray. One mutation, FBN1: c.5141T>G(p.Met1714Arg), was identified in this child, the mutation is inherited from her short mother and grandfather. AD is a rare congenital skeletal dysplasia disorder associated with mutations in the FBN1 gene. It conforms to the pathogenesis of autosomal dominant genetic disease.
ABSTRACT
Objective To explore the influence of Clostridium butyricum on the expression of vascular endothelial cell growth factor (VEGF) and its receptor 2 (VEGFR-2), proliferating cell nuclear antigen (PCNA), and tight junction protein claudin-2 in intestinal tissue in newborn rat with necrotizing enterocolitis (NEC). Methods Forty-eight-hour-old Sprague-Dewley (SD) rats were randomly divided into model group, control group, low-dose group, mid-dose group, and high-dose group, 12 rats each. Rats in each group were fed with milk substitute. The NEC model were created by hypoxia and cold stimulation for 3 consecutive days in model group, low-dose group, mid-dose group, and high-dose group. Meanwhile, low-dose group, mid-dose group, and high-dose group were intervened by being fed with Clostridium butyricum 0.2, 0.4, and 0.8 g/(kg·d), respectively. All rats in each group were sacriifced on day 4 and the intestines tissue was obtained. The pathological changes had been observed. The expression of VEGF, PCNA, and claudin-2 were detected by immunohistochemistry. The expression of VEGFR-2 was detected by RT-PCR. Results The intestines pathological scores was signiifcantly different among ifve groups (P?0 . 05 ). Conclusion The expression of VEGF, VEGF-2 , and claudin-2 were higher in rats with NEC, while the expression of PCNA was lower. Supplementation of Clostridium butyricum may protect newborn rats by its act on these factors.