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 (P<0. 05). There was no significant difference between the two groups in the local re-currence rate, distant metastasis rate, 3-year survival rate or 5-year survival rate (P>0. 05). Conclusion The effect of breast-conserving surgery in treatment of early breast cancer is satisfactory, so it is recommending for wide application.

Objective To evaluate the curative effect,safety and feasibility of interventional therapy for biliary restenosis occurring after surgical T-tube drainage.Methods The clinical data of 25 patients with biliary restenosis that occurred after surgical T-tube drainage,who were admitted to authors' hospital during the period from June 2014 to March 2016,were retrospectively analyzed.The primary diseases included bile duct carcinoma (n=6),gallbladder carcinoma (n=3),biliary stone (n=13),hepatocellular carcinoma (n=2)and gastric cancer after surgery (n=1).Abnormal junction of pancreatic duct and biliary duct was observed in 4 patients.Interventional procedure via T-tube route was carried out in 22 patients,and T-tube radiography with subsequent percutaneous transhepatic cholangial drainage (PTCD) was conducted in 3 patients.Biliary balloon expansion combined with biliary drainage was performed in 21 patients,and biliary metal stent implantation was adopted in 4 patients.For patients with benign biliary stricture,the drainage tube was retained for 2-3 months before it was removed.All the patients were followed up for 3-24 months at outpatient clinic or by the telephone.The curative effect was evaluated with drainage-tube radiography.Results The interventional operation was successfully accomplished in all patients,no procedure-related complications occurred,the technical success rate was 100％.In 15 patients with benign biliary stricture,biliary plasty with balloon expansion via the T-tube fistula was conducted,then a 10.2-12 F drainage catheter was placed in the biliary tract and the T-tube was pulled out.During the follow-up period,one patient with anastomotic stricture of bile duct carcinoma died of pulmonary infection at 8 months after treatment.Of the 10 patients with malignant stricture,the biliary obstruction was located above the T-tube level in 3,and all the 3 patients received PTCD.Among the 3 patients,2 patients had hepatocellular carcinoma complicated by biliary invasion,as the extent of the cancerous thrombus was very large,both internal drainage tube and external drainage tube had to be implanted.After jaundice regression,the two patients died of hepatic failure at one month and 2.2 months after the operation respectively.One patient with gallbladder carcinoma complicated by invasion of bile duct received implantation of biliary stent,and the patient died of tumor deterioration at 2.5 months after the procedure.In 7 patients,the biliary obstruction was located below the T-tube level.hnplantation of internal drainage tube and external drainage tube via the Ttube fistula was performed in 4 patients,and implantation of metal stent was adopted in 3 patients.Among them,2 patients with gallbladder carcinoma died of tumor deterioration at 3.8 months and 5 months after the operation respectively.In 5 patients with cholangiocarcinoma,biliary stent restenosis occurred in 2 at 3 months after the treatment,and PTCD was adopted.Three patients died of tumor deterioration complicated by organ function failure at 3.6 months,5.2 months and 9.0 months after the operation respectively.Conclusion For the treatment of biliary restenosis occurring after surgical T-tube drainage,interventional therapy is safe and feasible with reliable curative effect,it can significantly improve the life quality of patients.

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.

OBJECTIVE: To explore the genetic basis for a family with non-syndromic autosomal recessive deafness. METHODS: The proband and her parents were subjected to physical and audiological examinations. With genomic DNA extracted from peripheral blood samples, next-generation sequencing was carried out using a panel for deafness genes. Suspected mutation was validated by Sanger sequencing and qPCR analysis of her parents. RESULTS: The proband presented bilateral severe sensorineural hearing loss at three days after birth. Her auditory threshold was 110-120 dBnHL but with absence of vestibular and retinal symptoms. Her brother also had deafness but her parents were normal. No abnormality was found upon physical examination of her family members, while audiological examination showed no middle ear or retrocochlear diseases. Next-generation sequencing identified compound heterozygous mutations of the MYO7A gene, including a previously known c.462C>A (p. Cys154Ter) and a novel EX43_46 Del, which were respectively derived from her mother and father. CONCLUSION The compound heterozygous mutations of the MYO7A gene probably underlie the disease in this family. Our findings has enriched the mutation spectrum for non-syndromic autosomal recessive deafness 2.
Female ; Hearing Loss, Sensorineural ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; Myosins ; genetics ; Pedigree

OBJECTIVE: To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality. METHODS: Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis. RESULTS: The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal. CONCLUSION 3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.
Chromosomes, Human, Pair 3 ; genetics ; Comparative Genomic Hybridization ; Female ; Fetus ; Humans ; Karyotyping ; Male ; Pregnancy ; Prenatal Diagnosis ; Trisomy

Objective:To analyze clinical characteristics of and causative genes in two families with dystrophic epidermolysis bullosa, and to reveal the pathogenesis of the disease and mechanisms underlying phenotypic differences between patients.Methods:DNA was extracted from peripheral blood samples of members from two families with dystrophic epidermolysis bullosa, and subjected to high-throughput sequencing and Sanger sequencing.Results:The clinical manifestations of the 2 probands in the 2 families were consistent with the diagnosis of dystrophic epidermolysis bullosa, and the symptoms of the proband in family 1 were more serious than those of other patients in the family. Genetic testing showed that all patients in family 1 carried a mutation c.6082G>C (p.G2028R) in the COL7A1 gene, and the proband and her phenotypically normal mother and uncle also carried a splice-site mutation c.7068+2 (IVS91) T>G in the COL7A1 gene, both of which were first reported. The proband in family 2 carried the mutations c.6081_6082 ins C (p.G2028Rfs*71) and c.1892G>A (p.W631X, first reported) in the COL7A1 gene, which were inherited from her father and mother, respectively.Conclusion:The two pathogenic mutations may be the molecular mechanism underlying the severe clinical phenotype in the proband in family 1; the first reported mutations enriched the mutation spectrum of the COL7A1 gene.

To explore the potential mechanism of frankincense volatile oil in the prevention and treatment of cardiac hypertrophy based on in vitro cell experiment and network pharmacology. METHODS: The anti-hypertrophic effect of frankincense volatile oil was investigated by isoproterenol induced H9c2 cardiomyocytes hypertrophy model. The active chemical components and targets of frankincense volatile oil and targets associated with cardiac hypertrophy were obtained by CNKI, Pubmed, Pubchem databases, etc. String database and Cytoscape 3.8.0 software were used to construct protein-protein interaction network (PPI) and a network of "drug-active component-key target-disease" of frankincense volatile oil in order to screen the key targets of frankincense volatile oil against cardiac hypertrophy. The fluorescent quantitative PCR experiments were performed to verify those key targets. Gene Ontology (GO) enrichment analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway annotation analysis of key target genes were performed using David online analysis tool. RESULTS: In vitro cell experiments showed that frankincense volatile oil significantly inhibited the isoproterenol induced increases in cardiomyocytes surface area and protein synthesis, and upregulations of ANP and β-MHC mRNA. A total of 87 active components and 36 ingredient-disease targets of frankincense volatile oil were screened. Network analysis showed that ESR1, NOS3, PTGS2, TNF, MAPK14, and PPARG were key targets. Fluorescence quantitative PCR experiments results indicated that frankincense volatile oil inhibited isoproterenol induced upregulations of ESR1, PTGS2, TNF, and MAPK14 mRNA levels, and downregulations of NOS3, PPARG mRNA levels, respectively. In addition, the GO functional enrichment analysis showed that its biological pathways mainly included lipopolysaccharide-mediated signaling pathway, positive regulation of nitric oxide biosynthetic process, caveola, enzyme binding, etc. The KEGG pathway enrichment analysis included 22 KEGG pathways, which were closely related to VEGF signaling pathway, TNF signaling pathway, sphingolipid signaling pathway and others. CONCLUSION: The active components of frankincense volatile oil may regulate VEGF signaling pathway, TNF signaling pathway, Sphingolipid signaling pathway by acting on ESR1, NOS3, PTGS2, TNF, MAPK14 and PPARG targets, thereby affecting the regulation of lipopolysaccharide-mediated signaling pathway, positive regulation of nitric oxide biosynthetic process, caveola, and enzyme binding, and improving cardiac hypertrophy.

In the original publication the Supplementary Material and Fig. 2 are incorrect. The correct version is provided in this correction article. The text HBG2 appearing in the article should be read as HBG1.

Bacterial Proteins ; genetics ; CRISPR-Cas Systems ; genetics ; Endonucleases ; genetics ; Gene Editing ; HEK293 Cells ; Humans ; Transcriptional Activation ; genetics ; p300-CBP Transcription Factors ; genetics

Objective: To explore the genetic basis for a family with non-syndromic autosomal recessive deafness. Methods: The proband and her parents were subjected to physical and audiological examinations. With genomic DNA extracted from peripheral blood samples, next-generation sequencing was carried out using a panel for deafness genes. Suspected mutation was validated by Sanger sequencing and qPCR analysis of her parents. Results: The proband presented bilateral severe sensorineural hearing loss at three days after birth. Her auditory threshold was 110-120 dBnHL but with absence of vestibular and retinal symptoms. Her brother also had deafness but her parents were normal. No abnormality was found upon physical examination of her family members, while audiological examination showed no middle ear or retrocochlear diseases. Next-generation sequencing identified compound heterozygous mutations of the MYO7A gene, including a previously known c. 462C>A (p. Cys154Ter) and a novel EX43_46 Del, which were respectively derived from her mother and father. Conclusion The compound heterozygous mutations of the MYO7A gene probably underlie the disease in this family. Our findings has enriched the mutation spectrum for non-syndromic autosomal recessive deafness 2.