Arabidopsis thaliana is an important and long-established model species for plant molec-ular biology,genetics,epigenetics,and genomics.However,the latest version of reference genome still contains a significant number of missing segments.Here,we reported a high-quality and almost complete Col-0 genome assembly with two gaps(named Col-XJTU)by combining the Oxford Nanopore Technologies ultra-long reads,Pacific Biosciences high-fidelity long reads,and Hi-C data.The total genome assembly size is 133,725,193 bp,introducing 14.6 Mb of novel sequences compared to the TAIR1 0.1 reference genome.All five chromosomes of the Col-XJTU assembly are highly accurate with consensus quality(QV)scores＞60(ranging from 62 to 68),which are higher than those of the TAIR10.1 reference(ranging from 45 to 52).We completely resolved chro-mosome(Chr)3 and Chr5 in a telomere-to-telomere manner.Chr4 was completely resolved except the nucleolar organizing regions,which comprise long repetitive DNA fragments.The Chr1 cen-tromere(CEN1),reportedly around 9 Mb in length,is particularly challenging to assemble due to the presence of tens of thousands of CEN180 satellite repeats.Using the cutting-edge sequencing data and novel computational approaches,we assembled a 3.8-Mb-long CEN1 and a 3.5-Mb-long CEN2.We also investigated the structure and epigenetics of centromeres.Four clusters of CEN180 monomers were detected,and the centromere-specific histone H3-like protein(CENH3)exhibited a strong preference for CEN 180 Cluster 3.Moreover,we observed hypomethylation patterns in CENH3-enriched regions.We believe that this high-quality genome assembly,Col-XJTU,would serve as a valuable reference to better understand the global pattern of centromeric polymorphisms,as well as the genetic and epigenetic features in plants.

Objective To investigate the effect of tripterygium glycosides combined with recombinant human tumor necrosis factor receptor Ⅱ antibody fusion protein for injection on serum vascular endothelial growth factor (VEGF),rheumatoid factor (RF),receptor activator of nuclear factor κ B ligand (RANKL) levels in patients with rheumatoid arthritis.To provide reference for rational clinical application.Methods From December 2014 to January 2016,132 patients with rheumatoid arthritis were divided into observation group and control group by random number table method,,with 66 cases in each group,The control group was treated with tripterygium glycosides alone (10 mg each time,3 times daily,orally) for 3 months.The observation group was treated with a combination of tripterygium glycosides and recombinant human tumor necrosis factor receptor Ⅱ (0.4 mg/kg,once weekly,hypodermic injection) for 3 months.The clinical efficacy,and serum VEGF,RF and RANKL levels were compared between 2 groups.Results The effective rate of the observation group was 92.4％ (61/66),which was significantly higher than that in the control group (80.3％,53/66).There was a significant difference between the two groups (x2=4.117,P＜0.05).There was no significant difference in the levels of serum VEGF,RF and RANKL between the two groups (t =0.174,0.103,0.359,all P＞0.05).After treatment,the levels of serum VEGF,RF and RANKL in the observation group and the control group were (20.8± 11.5) ng/L and (27.3 ±13.1) ng/L,(258.4±54.5) U/L and (298.1 ±49.5) U/L,(0.083±0.021) pmol/L and (0.197 ± ±0.064),respectively.There were significant differences between the two groups (t =3.029,4.381,13.750,all P＜0.05).The incidence rate of adverse reactions in the control group was 10.5％ (7/66),which was significantly higher than that in the observation group (1.5％,1/66).There was a significant difference between the two groups(x2 =4.790,P＜0.05).The one-year recurrence rate was 25.0％ (13/52) in the control group and that was 6.7％ (4/60) in the observation group,respectively,and there was a significant difference between the two groups (x2 =7.272,P＜ 0.05).Conclusion Tripterygium glycosidescombined with recombinant human tumor necrosis factor receptor Ⅱ antibody fusion protein for injection is effective in the treatment of rheumatoid arthritis,which reduces the levels of serum VEGF,RF and RANKL,and has a low incidence of adverse reactions and recurrence.

Objective:To investigate the treatment effect of using posterolateral approach under arthroscopic for senile ankle fractures.Methods: The clinical data from 30 cases of ankle fractures of the elder patients were received arthroscopic therapy (observation group) and 30 cases underwent surgical treatment(control group), both of the two groups were analyzed by retrospectively. The operation time, amount of bleeding and recovery time were compared between two groups. McGuire scoring standard was used to measure and compare the ankle function before and after surgery.Results: There were difference between two groups in the operation time, amount of bleeding and recovery time; and the observation group were less than control group in these indexes (t=26.82,t=23.54,t=31.21;P<0.05). Before surgery, there was no difference in term of McGuire scores between two groups. McGuire scores of every group after surgery was higher than those before surgery (t=12.34, P<0.05); and ankle function in observation group was improved more significantly than those in control group.Conclusion: Arthroscopic therapy could clearly find the joint injury, treatment in time, have little tissue damage and safety during operation, and it can improve the treatment effect.

Objective To study the impact of regional lymph node metastasis on the prognosis of patients with hepatocellular carcinoma (HCC) after hepatectomy.Methods Three hundred and twenty-two HCC patients who underwent elective hepatectomy in the Heze Municiple Hospital were retrospectively studied from January 1999 to December 2013.The clinical data and follow-up results were analyzed.The diagnosis of lymph node metastasis was based on preoperative imaging data and intraperative findings.Results There were 16 patients (5.0％) with lymph node metastasis (the metastasis group) and 306 patients (95.0％) without lymph node metastasis (the no-metastasis group).On Kaplan-Merier analysis,the overall survival (OS) rates at 1,2,5 years were 43.8％,31.3％,7.5％ in the metastasis group and 83.7％,70.9％,46.1％ in the no-metastasis group,respectively (Log-rank test:P ＜ 0.05).The corresponding disease-free survival (DFS) rates were 30.0％,22.5％,6.3％ in the metastasis group and 69.8％,52.8％,34.5％ in the no-metastasis group,respectively,(P ＜0.05).On follow-up,the mid-and shortterm HCC recurrence rates (≤6 months) were 71.4％ in the metastasis group (10 patients) and 31.6％ in the no-metastasis group (142 patients,x2 =9.754,P ＜ 0.05),respectively.Absence of cirrhosis,hepatectomy extent of ＞ 1 Section,max-diameter of tumor ＞ 5 cm,poor differentiation and absence of tumor encapsulation were significant factors of DFS in the metastasis group (P ＜ 0.05).On COX regression analysis,absence of tumor encapsulation was the only independent risk factor of DFS.Conclusions Regional lymph node metastasis was one of the significant factors for OS and DFS in HCC patients who underwent hepatectomy.Resection of metastatic lymph nodes and post-operation adjuvant treatment should be helpful to improve patients' prognosis.

OBJECTIVETo perform genetic analysis for 7 patients with Waardenburg syndrome.

METHODSPotential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software.

RESULTSSeven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful.

CONCLUSIONGenetic mutations have been detected in all patients with Waardenburg syndrome.

Adolescent ; Child ; Female ; Humans ; Male ; Microphthalmia-Associated Transcription Factor ; genetics ; Mutation ; PAX3 Transcription Factor ; Paired Box Transcription Factors ; genetics ; Polymorphism, Single Nucleotide ; SOXE Transcription Factors ; genetics ; Waardenburg Syndrome ; genetics

Lean management,when introduced to optimize emergency operations,may improve medical service.It has been proved in practice that ideas and methodology of lean management guarantee emergency services by ensuring safety and quality of emergency operation process.In addition,it minimizes costs and enhances the business and social efficiency of the hospital.

OBJECTIVETo explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.

METHODSPeripheral blood samples were collected from regional schools for children with deafness. The samples were analyzed by matrix-assisted laser desorption ionization of flight mass spectrometry, and the results were verified by DNA sequencing.

RESULTSFor all samples, the 20 mutational sites of the 4 common causative genes were tested. As revealed, c.235delC of GJB2 gene has the highest mutational rate (13.67%). c.IVS7-2A>G of SLC26A (PDS) gene has a mutation rate of 17.67%, and c.1555A>G of mitochondrial 12S rRNA has a mutation rate of 2.00%. No mutations have been found with GJB3 gene. Sequencing analysis has suggested that the above results have a consistency rate of 99%.

CONCLUSIONAnalysis of mutations of the 4 common deafness-related genes can facilitate early diagnosis and treatment for the disease. Matrix-assisted laser desorption ionization time of flight mass spectrometry is a reliable method for such a task.

Adolescent ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; RNA, Ribosomal ; genetics ; Young Adult

Objective To investigate the clinical effects of sodium aescinate adjuvant in treatment with tibial plateau fracture. Method According to the principle of random draw, 160 cases of tibial plateau fractures patients were divided into observation group and control group, each had 80 cases. All cases were given the improved bilateral plate internal ifxation with conventional interventions, besides, the observation group were added intravenous infusion of sodium aescinate after surgery. Results The differences of operative time, blood loss and clinical fracture healing time between two groups were not signiifcant. After intervention, the overall incidence of complications with arthritis, deep vein thrombosis, joint stiffness and joint instability in observation group were signiifcantly lower than that in control group, but the value of joint activity with the HSS values were signiifcantly higher(P<0.05). The plasma TNF-αlevels between two groups before the intervention was not signiifcant, and the values were signiifcantly decreased after the intervention (P<0.05), and had signiifcant differences between the two groups (P<0.05). Conclusion Sodium aescinate has good effect on prognosis in treatment with tibial plateau fractures, the mechanism may be related to reducing the level of plasma TNF-α.

Objective To study the microsatellite instability (MSD) of D310 and D16184 located in mitochondrial D-loop region in acute leukemia (AL). Methods The HV-1 and HV-2 regions in D-loop region of 100 persons with the untreated and treated acute leukemia was amplificated and screened by PCR-SSCP,then the abnormal samples was amplificated and sequenced directly and compared with revised Cambridge reference sequence (rCRS) and mtDB. The mutation rates of D310 and D16184 was measured by SPSS11.5 statistics software, x2-test. Results The total mutation rate of D310 was found in 49.0 % (49/100) of our patients. Its mutation rates in untreated group and treated group were 32.5 % (13/40) and 60.0 % (36/60)respectively. The mutation rate of treated group is higher than that in untreated group (P ＜ 0.05). The total mutation rate of D16184 was found in 32.0 % (32/100) of our patients. Its mutation rates in untreated group and treated group were 20.0 % (8/40) and 40.0 % (24/60) respectively. The mutation rate of treated group is higher than that in untreated group (P ＜ 0.05). Conclusion There was a high mutation rate with various types of mutations of microsatellite D310 and D16184 located in mitochondrial D-loop region in AL, which led to a doughty MSI. Chemotherapy could cause a more doughty MSI.

of DE-MRI and the specificity and accuracy of LDDSE were significantly lower than that of DE-MRI (P < 0. 05). Conclusion DE-MRI with high specificity and accuracy, potentially, is a valuable imaging method for the detection of viable myocardium.