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 allele frequencies of eight short tandem repeats(STR) loci:TH01,FES, D19S400,D7S820,D16S539,D20S161,D3S1545 and D5S818 in Han population in Henan province.Methods DNA was extracted with phenol-chloroform from EDTA-blood samples of the unrelated individuals in Henan province and amplified with PCR technique. The PCR product was analyzed with the undenatured PAGE vertical electrophoresis and silver-stain.Results The authors got the frequencies of the eight loci. The heterozygosities of the eight loci are 0.66, 0.67, 0.80, 0.76, 0.79, 0.79, 0.78 and 0.78; the discrimination powers are 0.83, 0.83, 0.94, 0.91, 0.93, 0.93, 0.92 and 0.92.Conclusion The heterozygosities of the eight loci are high and the frequencies are in good agreement with Hardy-Weinberg equilibrium, so the eight loci can be used in idividual identification testing.

A three-dimensional feature construction method based on spectral information is presented,in which the power values of each channel are arranged into two-dimensional feature vectors based on electrode positions.The different frequency band features are arranged into a three-dimensional integral feature tensor to extract the information in frequency domain.Meanwhile,in order to reduce the influence of volume conductor effect,functional connectivity is utilized to map the temporal electroencephalogram data to the spatial brain functional network for extracting the spatial information.By analyzing the relationship between features and target classes,a 3D-CNN-Attention network model is proposed to incorporate an Attention mechanism in 3D-CNN network to enhance the electroencephalogram feature learning capability.A series of comparative experiments on publicly available datasets show that 3D-CNN-Attention network framework outperforms other methods in depression detection,obtaining an accuracy rate of up to 96.32%.The proposed method provides an effective solution for depression detection.

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.

Identification of genetic variants via high-throughput sequencing (HTS) technologies has been essential for both fundamental and clinical studies. However, to what extent the genome sequence composition affects variant calling remains unclear. In this study, we identified 63,897 multi-copy sequences (MCSs) with a minimum length of 300 bp, each of which occurs at least twice in the human genome. The 151,749 genomic loci (multi-copy regions, or MCRs) harboring these MCSs account for 1.98％of the genome and are distributed unevenly across chromosomes. MCRs containing the same MCS tend to be located on the same chromosome. Gene Ontology (GO) anal-yses revealed that 3800 genes whose UTRs or exons overlap with MCRs are enriched for Golgi-related cellular component terms and various enzymatic activities in the GO biological function cat-egory. MCRs are also enriched for loci that are sensitive to neocarzinostatin-induced double-strand breaks. Moreover, genetic variants discovered by genome-wide association studies and recorded indbSNP are significantly underrepresented in MCRs. Using simulated HTS datasets, we show that false variant discovery rates are significantly higher in MCRs than in other genomic regions. These results suggest that extra caution must be taken when identifying genetic variants in the MCRs via HTS technologies.