ABSTRACT
Objective@#To investigate the pathogenic mechanism of two novel ITGB2 mutations in leukocyte adhesion defect type 1 (LAD1).@*Methods@#The clinical history and blood sample of an 11 years old patient admitted to Affiliated Hospital of Qingdao University in August 2014 were collected. Expression of CD18 (encoded by ITGB2) was analyzed by flow cytometry. Novel ITGB2 mutations were identified by next-generation sequencing technology and confirmed by Sanger sequencing. The functional effect of ITGB2 mutations was detected by PolyPhen2. Expression vectors of both wild type and mutant ITGB2 were constructed and transfected into mammalian cells for analysis of protein stability and subcellular location.@*Results@#The symptoms of the patient (recurrent infections, lowered alveolar ridge and hypodontia) supported the diagnosis of LAD1. Expression of CD18 on the leukocytes was significantly decreased (0.2%) compared with the control samples from the parents (paternal: 99.0%; maternal: 99.1%). The patient was identified to be compound heterozygous for ITBG2 c.954del G (novel mutation) and c.1802C>A (paternal originated). ITGB2 c.954 del G was confirmed to be a harmful frameshift mutation; ITGB2 c.1802C>A was also predicted to be harmful. In terms of protein stability. There was no significant difference between mutant D18 and wild type. However, subcellular location analysis showed the mutant D18 could not locate on cell membrane.@*Conclusion@#The compound heterozygous of ITGB2 mutations (c.954del G and c.1802C>A) decreases the expression and impairs the location of CD18 on leukocytes, which leads to LAD1.
ABSTRACT
Objective To compare the effects of breast-conserving and modified radical mastectomy of early-stage breast cancer. Meth-ods 80 patients with early breast cancer were divided into two groups according to the different operation methods. The treatment group were given breast-conserving surgery while the control group were given modified radical mastectomy, and the clinical efficacy of two groups were observed. Results The operation time, intraoperatve blood soss, average drainage and the length of hospital stay of the breast-conserving group were significantly lower than those of the control group, and the excellent rate of breast shape in the breast-conserving group was signif-icantly higher with a statistically significant difference (P0. 05). Conclusion The effect of breast-conserving surgery in treatment of early breast cancer is satisfactory, so it is recommending for wide application.