Objective To investigate the relationship between human epidermal growth factor receptor 2 (HER-2) gene amplification, the expression of HER-2 protein and the clinical characteristics in invasive breast cancer. Methods 105 patients with invasive breast cancer were examined by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). The correlation between expression of HER-2 protein and the gene amplification of HER-2 was compared, and their relationship with clinicopathologic features was analyzed. Results 105 patients with invasive breast cancer included 35 cases of HER-2 gene amplification. The coincidence rates of HER-2 protein 0 and + (negative), ++ (uncertainty),+++ (positive) and FISH detection of HER-2 gene amplification were 94.5 % (17/18), 23.5 % (16/68) and 94.7 % (18/19) respectively. HER-2 gene amplification was associated with estrogen receptor, progesterone receptor expression and lymph node metastasis (all P< 0.05), but not with age and tumor differentiation (P>0.05). Conclusions The prognosis of invasive breast cancer is correlated with the amplification of HER-2 gene. Patients with HER-2 protein negative and positive can be selectively confirmed by FISH; patients with HER-2 protein uncertainty should routinely use FISH to detect HER-2 gene amplification status, which could provide data for the clinical treatment and prognosis judgement.

Objective To explore the clinical curative effect of hollow screw internal fixation for the treatment of distal epiphyseal teenagers tibial fracture.Methods Thirty -nine cases of epiphyseal fractures of the distal tibia were treated in Shanghai Children′s Hospital between February 2005 and September 201 4.This study included 24 boys and 1 5 girls with the average age of 1 3.1 years (ranged 1 0.5 to 1 6.2 years old).Preoperative diagnosis was confirmed by the X -ray films or CT examination.All the cases were closed fractures and manipulative reduction all failed.Surgi-cal reduction was performed when plain radiographs showed the fracture gap of epiphysis board and articular surface were greater than 2 mm or after closed reduction.Under C -arm X -ray machine,ankle axial traction was performed initially.Anatomical reduction underwent according to the bone fracture type.The fractures were fixed with cannulated screws by percutaneous or open approach.Postoperative X -ray or CT confirmed anatomical reduction at articular sur-face and growth plate.All patients had been immobilized with short -leg cast for 4 -6 weeks.The ankle joint function and growth were evaluated by means of American Orthopaedic Foot and Ankle Society(AOFAS)Ankle Hindfoot Scale. Results All patients were followed up for 5 to 91 months with an average duration of 35 months.X -ray films showed that all fractures were bone healing.No uneven articular surface was found and there was no extremity rotation and shorte-ning deformity.Results were evaluated by AOFAS scoring system:excellent in 27 cases,good in 10 cases,and general in 2 cases.All patients were able to participate in the normal physical activities.Conclusions CT with multiplanar recon-struction is a premise to make an accurate diagnosis and to choose a reasonable approach.For failed closed reduction for adolescent distal tibial epiphyseal fractures,the cannulated screws are simple and may have a satisfactory effect.

Objective To compare the treatment effect and study the efficacy of the elastic intramedullary nails for the treatment of primary aneurysmal bone cysts in limbs.Methods Twenty one children with primary aneurysmal bone cystsadmitted to and treated in Shanghai Children's Hospital from 2012 January to 2016 June were studied retrospectively.There were 18 males and 3 females,with overall age of 1-14 years old and median age of 5 years old.The lesions were mainly located in the femur,tibia,fibula and humerus.They were divided into 2 groups according to the treatment plan.The patients of the experimentgroup received curettage and bone grafts with high-speed burring and elastic intramedullary nail.The patients of the control group received curettage and bone grafts with high-speed burring.According to the imaging results (Neer grading) and MSTS functional evaluation,the curative effect of the children of the 2 groups were analyzed statistically.Results The cure children were followed up for more than 2 yearswith follow-up time range of 24-48 months (mean value of 32.29±8.22 months).Five patients had a recurrence,with mean postoperative recurrence time of 10±2.66 months.A total of 5 patients of the control group perceived curettage and bone grafts with high-speed burring and a total of 16 patients of the experimentgroup received curettage and bone grafts with high-speed burring andelastic intramedullary nail.According to the imaging results (Neer grading) and MSTS function evaluation,Neer grading was 3 cases for grade Ⅰ,0 case for grade Ⅱ,1 case for grade Ⅲ and 12 cases for grade Ⅳ in the experiment groups.That was 1 case for grade Ⅰ,1 case for grade Ⅱ,2 cases for grade Ⅲ and 1 case for grade Ⅳ in the control group.The ABC recurrence rate of experimental group (18.8％) was lower than matched group (40％),while there was no significant difference.We found that MSTS functional scores of experimental group was significantly higher than the matched group (28.88±2.22 vs 20.80± 10.38,t=3.058,P=0.006).According to postoperative MSTS functional evaluation,we found that even the patients in the study group with recurrencewere also able to participate in physical exercises,without further occurrence of pathological fracture and the postoperative life quality was greatly improved.Conclusion Curettage and bone grafts with high-speed burring andelastic intramedullary nail can significantly reduce the recurrence rate of primary aneurysmal bone cysts in the four limbs.Meanwhile the MSTS function evaluation of the recurrence cases in this group all achieve to a satisfactory level.The reason of recurrence may be correlated to patient age and the distance between the focus and epiphyseal plate.Therefore,an appropriate treatment protocol is helpful in reducing the relapse rate and improving the patients' postoperative living quality.

OBJECTIVE: To explore the genetic basis for a neonate featuring developmental delay. METHODS: Clinical examination and laboratory tests were carried out for the patient. Peripheral venous blood samples of the proband and his parents were extracted and subjected to target capture next generation sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a four-month-old male, has presented with developmental delay and weakness of limbs. Genetic testing revealed that he had harbored a novel c.1432C>T variant of the TNPO3 gene, which was inherited from his mother. The nonsense variant has resulted in premature termination of protein translation and was predicted to be pathogenic by bioinformatics analysis. CONCLUSION The heterozygous c.1432C>T variant of the TNPO3 gene probably underlay the limb-girdle muscular dystrophies form 1F in this patient. Above finding has enriched the variation spectrum of the TNPO3 gene.
Genetic Testing ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Muscular Dystrophies, Limb-Girdle/genetics* ; Mutation ; Phenotype ; beta Karyopherins/genetics*