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Objective@#To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS).@*Methods@#Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*Results@#The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c. 3779+ 1G>A and c. 5052_c.5053insT, were respectively identified in the 2 patients. Among these, c. 3779+ 1G>A was a previously known pathological mutation, while c. 5052_c.5053insT was unreported previously. Both variants were predicted to be pathological.@*Conclusion@#Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.
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Objective To investigate the effects of poly adenosine diphosphate ribose polymerase (PARP) inhibitor AG014699 on the proliferation of triple negative breast cancer (TNBC) cell line MDA?MB?231.Methods Cell proliferation and cytotoxicity test kit ( CCK?8) was used to detect the proliferation of MDA?MB?231 cells in different concentrations of AG014699 (0.1,1.0,10.0,20.0 and 40.0 mmol／L), DTX (10－9,10－8,10－7,10－6 and 10－5 mol／L) and CBP (10－6,10－5,10－4 and 10－3 mol／L).Flow cytometry was used to detect cell apoptosis and cell cycle distribution.Results The effects of AG01469 at different concentrations (0.1,1.0,10.0,20.0 and 40.0 μmol／L) on proliferation activity of MDA?MB?231 cells were (94.83 ± 3.93)%, ( 79.42 ± 5.52)%, ( 63.75 ± 4.34)%, ( 38.97 ± 8.42)%, ( 29.70 ± 3.35 )%, with statistically significant differences (F＝75.54,P＜0.01,different concentrations pairwise comparison: all P ＜0.05). The efficacy of AG014699 in combination with DTX at different concentrations (( 69.77 ±17.94)%,(58.34± 2.59)%,( 52.81 ± 2.01)%, ( 41.23 ± 3.38)%, ( 24.82 ± 0.73)%) was compared with that of single DTX (( 81.24 ± 11.91)%, ( 85.74 ± 3.10)%, ( 72.74 ± 4.66)%, ( 55.18 ± 3.19)%, (45.95±3.82)%).The differences were statistically significant (t values were －0.923,－11.748,－6.802,－5.199,－9.410,respectively,with P＞0.05 at 10－9 concentration and P＜0.01 at all other concentrations ). The efficacy of AG014699 combined with CBP ((78.33± 2.89)%,( 60.44± 1.95)%,( 50.55± 3.07)%, (12.07± 1.63)%) and single CBP (( 90.00 ± 6.18)%, ( 87.87 ± 2.30)%,( 76.82 ± 3.37)%,( 40.71 ±1.68)%) was compared,and the cell activity was significantly reduced,indicating statistically significant differences ( t values were －1.935,－15.756,－9.981,－21.192, respectively, and P＞0.05 at 10－6 concentration,P＜0.05 at all the other concentrations ).The q value was＞1.15 when AG014699 was combined with 10－3 mmol／L CBP, which showed synergistic effect.When combined with other effective concentrations of DTX or CBP,the q value was between 0.85 and 1.15,showing additive effect.Conclusion PARP inhibitor AG014699 assisted DTX or CBP can inhibit the proliferation of TNBC cell line MDA?MB?231.By means of simple addition or systematic effect,it can inhibit the triple negative breast cancer.
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OBJECTIVE@#To summarize the clinical characteristics and identify gene mutations of 2 probands with Rubinstein-Taybi syndrome (RSTS).@*METHODS@#Clinical characteristics of 2 probands with Rubinstein-Taybi syndrome were summarized. Genomic DNA was extracted from peripheral blood samples from the patients and their parents. Genomic DNA was subjected to whole exome next generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*RESULTS@#The two patients were characterized by typical facial features, broad thumbs and big toes, intellectual disability, and postnatal growth retardation. Two variants of the CREBBP gene, namely c.3779+1G>A and c.5052_c.5053insT, were respectively identified in the 2 patients. Among these, c.3779+1G>A was a previously known pathological mutation, while c.5052_c.5053insT was unreported previously. Both variants were predicted to be pathological.@*CONCLUSION@#Two cases of Rubinstein-Taybi syndrome were diagnosed, which facilitated the diagnosis and genetic counselling.
Subject(s)
Humans , CREB-Binding Protein , Genetics , Genetic Testing , High-Throughput Nucleotide Sequencing , Phenotype , Rubinstein-Taybi Syndrome , GeneticsABSTRACT
Objective To assess the safety and effectiveness of robotic-assisted laparoscopic radical cystcctomy and urinary diversion in the treatment of bladder cancer.Methods We collected the clinical data of one patient with bladder cancer who underwent RCRA with ileal neobladder from the Second Artillery General Hospital in Beijing on March,2010.Literature on this topic was analyzed.Results ( 1 ) Tbc operation duration of this procedure was 540 mins.The intra-operative blood loss was 200 ml,and no blood transfusion was needed.Postoperative pathologic examination indicated low-grade infiltrative urothelial carcinoma.The patient exhausted on the 3th post-operative day,had off-bed activities on the 4th post-operative day,and was discharged on the 28th post-operative day.(2) There were more than 400 patients underwent RARC worldwide.The RARC group had marginally lower complications rate (31％ vs.28％ ) and numbers of lymph node dissection ( 18.2 vs.13.0) than the LCR group.There were significant differences in the duration of operation (285.7 mins vs.372.0 mins),intraoperatie blood loss ( 286 ml vs.556.0 ml) and mean days of hospitalization ( 8.6 d vs.13.0 d) between the RARCA and the LCR groups.Conclusion RARC is a novel and effective procedure for the treatment of bladder cancer.As there is only a relatively small sample around the world and little experience on this procedure can be referred,more clinical practice with RARC and high quality research with long-term follow-up are needed to update the database and evaluate its effectiveness and safety.
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s correlated with coronary disease. Examining these peripheral arteries, more efficient in combination, seems to be a helpful way for screening coronary disease.
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Fierce earthquake could result in mass casualties. The patient is sent to the hospital after simple trauma management for further treatment. Emergency response to hospital infection management in station hospital can effectively prevent the occurrence and spreading of infectious diseases.
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Objective To investigate attendance of DSCTCA (dual-slice spiral CT coronary angiography). Methods Data from 463 patients undergoing DSCTCA were obtained and anylyzed. Results 451 cases are successfully examined at one time and 12 are failed. 8 in these 12 cases cannot hold their breath and the other 4 patients are due to unsatisfying heart rate. Better images are obtained when the 12 patients are examined again. All of the patients do not have harmful reactions and unexpected complications. Conclusion Excellent images can be obtained with DSCTCA at any heart rate without beta-receptors blocks before examination. The trunk and brunch of coronary artery can be displayed clear. Good attendence is important and guarantee the examination.
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Objective To probe the advantages and characteristics of imaging on dual-energy CT boneless and digital sub- traction brain angiography through comparative analysis. Methods Siemens 64-slice dual-source spiral CT and double high pressure syringe; The 200 patients were randomly divided into dual-energy group(n=100) and DSACT group(n=100); Every patient was injected 50 ml contrast medium and 50ml normal saline, injection rate was 4ml/s. Results The groups of cere- bra-vascular imaging without interference, and completely boneless; but experimental group has more boneless defects and vascular surface definition less. The cerebral arteries were interfered by the venous shadow in dual-energy group, and the dual-energy group received low-dose radiation. Conclusion The DSACT imaging quality is superior to dual-energy CT boneless imaging. The radiation dose of the dual -energy CT is lower than DSACT.