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OBJECTIVE@#To explore the genetic etiology of a girl featuring epilepsy, speech delay and mild mental retardation.@*METHODS@#Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted and subjected to next generation sequencing. Suspected variant was confirmed by Sanger sequencing.@*RESULTS@#The child was found to carry a de novo heterozygous c.3592G>A (p.V1198M) variant of the SMARCA2 gene, which was predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene.
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Objective To discuss the clinical effect of different scaffold in pulp vascular regeneration . Methods 22 young permanent teeth with periapical lesions were randomly divided into observation group and control group,11cases in each group .After the disinfection protocol was completed , the apexes of the control group were irritated to initiate bleeding to produce a blood clot to achieve pulp revascularization ,while the observation group used platelet rich plasma as physical scaffold to operate pulp revasculrization .Results In the control group , the two patients showed painful tooth at 1 and 8 months,the three patients showed healed periapical lesions and narrowed apical foramen at 12 and 18 months ,the six patients showed healed periapical lesions and closure of the apical fora -men at 12 and 18 months.In the observation group ,the three patients showed painful tooth at 1,3 and 8 months,the four patients showed healed periapical lesions and narrowed apical foramen at 12 and 18 months,the four patients showed healed periapical lesions and closure of the apical foramen at 12 and 18 months.There was no statistically significant difference between the observation group and control group by Fisher's exact probabilities (P=1.000). Conclusion Platelet rich plasma is potentially an ideal scaffold for pulp revascularization .
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Objective:To investigate the clinical efficacy of reconstruction of the mandibular defect in patients with osteoradionecro-sis using submental artery island flap and reconstructive Ti-plate.Methods:20 cases with mandible osteoradionecrosis underwent par-tial mandibulectomy.The submental artery island flap and reconstructive Ti-plate were used to reconstruct the mandibular defects and adjacent soft tissue defects.The post-operative effects and flap successful rate were evaluated with a follow-up period of 6 to 1 8 months.Results:1 9 flaps were well survived,local necrosis in the remote end was observed in 1 flap,but survived by hyperbaric ox-ygen therapy and iodoform gauze dressing,no plate exposure was found after operation in the follow up period.All patients were satis-factory with the outlook.Conclusion:Submental artery island flap combined with reconstructive Ti-plate is feasible in the treatment of osteoradionecrosis.
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Objective:To detect the levels of T help cell 17 (Th17)/regulatory T cell (Treg) in the peripheral blood of patients with ovarian cancer and explore their clinical significances.Methods:55 patients with ovarian cancer and 60 normal controls were enrolled.The percentage of Th17/Treg cells were detected by flow cytometry (FCM).The expression of retinoid-related orphan receptor gamma-t ( RORγt)/foxhead winged-helix box protein 3 ( Foxp3) mRNA was measured by real time PCR and the plasma levels of IL-17/TGF-β1 were detected by enzyme linked immunosorbent assay (ELISA).Results: The percentage of CD4+IL-17+/CD4+T cells,the mRNA expression of RORγt and the plasma levels of IL-17 increased significantly in patients with ovarian cancer than in normal controls (P<0.05).Compared with normal controls,the percentage of CD4+Foxp3+Treg/CD4+T cells,the mRNA expression of Foxp3 and the plasma levels of TGF-β1 increased significantly in patients with ovarian cancer ( P<0.05).Conclusion:The imbalance of Th17/Treg cells may exist in the peripheral blood of patients with ovarian cancer.Th17/Treg cells may participate the pathology of ovarian cancer.
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Objective To compare the characteristics of hMPV infection in BALB/c and SCID mice.Methods BALB/c and SCID mice were infected intranasally with GFP-rhMPV,and sacrificed on day 3,5,7,9 and 14 post inoculation.Heart,liver,spleen,lungs,kidneys and brain of the animals were used for viral isolation,titration,pulmonary histopathology and detection of GFP-hMPV mRNA expression by RT-PCR and real-time PCR.Results Live viruses were successfully isolated from the lungs of infected mice.Viral titers peaked on the 5th day post inoculation.Viruses remained to be detectable on the 14th day post inoculation in SCID mice,but not in BALB/c mice,whereas genomic RNA of GFP-rhMPV was detectable by PCR targeting F gene in infected BALB/c mice.Live viruses were not able to be isolated from heart,liver,spleen,kidney and brain,neither was genomic RNA of hMPV able to be detected on the 5 th day post inoculation by RT-PCR and real-time PCR.Histopathology of lungs was characterized by interstitial pneumonia on 5 days post inoculation.Lung pathology score of BALB/c mice group was slightly lower than SCID,and the difference was not statistically significant.Conclusion GFP-rhMPV can only replicate in the immunocompetent and immunodeficient mouse lungs,but not in other organs.As compared to that in BALB/c mice,the viral replication appears to be more efficiently and for longer time in SCID mouse lungs probably due to the absence of host cellular and humaral immunity,but this does not necessarily result in more severe pathological lesion.
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Nitric oxide (NO) is an important signaling molecule with diverse physiological functions in both animal and plant cells. In this work, we isolated the full-length cDNA and genomic DNA sequences of TaNOA-B1 encoding a putative NO associated (NOA) factor in common wheat. Bioinformatic analysis showed that TaNOA-B1 possessed a similar intron/exon structure as its orthologous genes in Arabidopsis and rice. The amino acid sequence deduced from TaNOA-B1 was more than 60% identitical to those of Arabidopsis and rice NOA1 proteins. The primary structure of TaNOA-B1 contained the zinc finger and P-loop GTPase motifs conserved in Arabidopsis and rice NOA1 proteins. There existed at least three NOA gene members in common wheat, which were mapped to homoeologous group six chromosomes 6A, 6B and 6D, respectively. TaNOA-B1 investigated in this work was located on chromosome 6B. The transcripts of TaNOA members were found mainly in leaves. TaNOA-B1-GFP fusion protein may be located in mitochondria. TaNOA transcript level was up-regulated by abscisic acid (ABA) or NaC1 treatments, indicating that TaNOA might be involved in wheat responses to abiotic stresses.
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Amino Acid Sequence , Arabidopsis , Genetics , Cloning, Molecular , DNA, Plant , Genetics , Exons , Genes, Plant , Genetics , Introns , Molecular Sequence Data , Nitric Oxide , Metabolism , Nitric Oxide Synthase , Genetics , Metabolism , Oryza , Genetics , Plant Proteins , Genetics , Metabolism , Triticum , GeneticsABSTRACT
Objective To establish the plaque assay for the titration of GFP-labeled recombinant human metapneumovims(rhMPV). Methods Vero-E6 cells were selected as host cells for titration. GFP-labeled hMPV was serially diluted and added to each well to infect the cells. The plates were covered with low melting agarose overlay and incubated for different days in incubator. The plates were then observed under fluorescence microscope for plaques with green flourecence, at the same time, the number of plaques was counted by blue plaque-forming. Results Under the low melting agarose overlay, Vero-E6 cells grew well until the CPE caused by hMPV was seen. Clear green flourescence could be observed the first day post infection, much clearer on the third day post infection but showed somewhat fusion between plaques later on.Blue plaques on the fifth day after infection were large and easy to observe. The recombinant GFP-labeled hMPV could replicate up to 1 × 106 PFU in the Vero-E6 cells. Conclusion Plaque assay for titration of recombinant GFP-rhMPV has been sucessfully established. This methodology will offer a solid base for further studies on pathogenesis and vaccine development of this virus.
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Dehydroascorbate reductase (DHAR) plays an important role in the recycling of ascorbic acid. In this work, we isolated the full length cDNA clones of two different DHAR genes (tentatively named as TaDHAR1 and TaDHAR2, respectively) from common wheat. Semi-quantitative PCR experiments showed that TaDHAR1 and TaDHAR2 were transcribed in many vegetative and reproductive organs examined in this work. Transient expression analysis using wheat protoplasts indicated that the protein products of TaDHAR1 and TaDHAR2 may be located in the cytoplasm. The cDNAs of TaDHAR1 and TaDHAR2 were expressed in the bacterial cells, and resultant histidine tagged recombinant proteins could be efficiently purified using nickel chelate affinity chromatography. In vitro enzyme activity assays revealed that the recombinant TaDHAR1 and TaDHAR2 proteins could all convert dehydroascorbate (DHA) to AsA. The two proteins exhibited higher activity levels at 37 degrees C than at 25 degrees C. Under the two temperature conditions, the optimal pH for TaDHAR1 and TaDHAR2 was both around 7.5. The major difference between TaDHAR1 and TaDHAR2 is the activity under pH 6.0 and 7.0 at 25 degrees C. The results and resources obtained in this study may be useful for further research into the physiological role of TaDHAR genes in AsA metabolism in crop plants under normal or stressed conditions.
Subject(s)
Amino Acid Sequence , Cloning, Molecular , Genes, Plant , Genetics , Molecular Sequence Data , Oxidoreductases , Genetics , Metabolism , Plant Proteins , Genetics , Metabolism , Recombinant Proteins , Genetics , Metabolism , Triticum , GeneticsABSTRACT
@#目的探讨急性卒中单元联合康复卒中单元对重症脑卒中的影响。方法卒中单元的急性重症脑卒中患者54例为治疗组,神经科常规病房的急性脑卒中患者52例为对照组。比较两组Fugl-Meyger评分、美国卫生研究院脑卒中量表(NIHSS)评分、日常生活活动能力(ADL)评分以及3周感染率、其他并发症发病率、死亡率。结果两组入院时Fugl-Meyger评分、NISHH评分、ADL评分无显著性意义(P>0.05);第3周Fugl-Meyger评分、NISHH评分、ADL评分无显著性差异(P>0.05);第6周出院时或随访两组Fugl-Meyger评分、NISHH评分、ADL评分有非常显著性差异(P<0.01);三周感染率、其他并发症发病率、死亡率有显著性差异(P<0.05)。结论采用急性卒中单元联合康复卒中单元能促进急性重症脑卒中患者运动功能恢复,降低其神经功能缺损程度,提高其日常生活能力。
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Objective To observe the influence of the trial point on the quality of root canal obturation.Methods 400 teeth were randomly divided into two groups. The experimental group was with the trial point,while the control group without. The quality of obturation was analyzed based on with and without testing the trial point.Results There were 201 teeth with the trial point and 199 teeth without, the rates of flush filled teeth were 86%,75% and 51% respectively in the trial point against,but its rates were 62%,49% and 26% respectively without the test in anterior, premolars and molars. The standard data of two groups were evaluated and compared. The difference of two groups was statistically significant(P
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Objective To construct recombinant plasmid pcDvp3 and observe the apoptosis-inducing effect of vp3 gene on human breast cancer cell line-435. Methods (1) vp3 gene was cloned into the plasmid pcDNA3.1 to form the recombinant plasmid pcDvp3. Then the nucleotides sequencing was processed. (2) 48h after transfection of pcDvp3 and pcDNA3.1 into breast cancer cell lines-435,optical microscopy, electric-microscopy, agarose electrophoresis and flow cytometry were used to verify apoptosis of tumor cells.(3)Nude mouse model of human breast cancer cells -435 was established to observe the tumor-inhibiting rate and TUNEL was adopted to identify apoptosis. Results (1) Sequence analysis justified the recombination of plasmid pcDvp3. (2) 48h after transfection into breast cancer cells-435, distinct morphological transformation and typical apoptosis bodies were observed, agarose electrophoresis of genomic DNA showed typical ladder-like pattern and flow cytometry analysis showed apoptosis peaks with the percentage of 14.42%. (3) Tumor-inhibiting rates in pcDvp3 groups were 65.52% and 68.23%, much higher than that in pcDNA3.1 group(t=4.06,P