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1.
应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。 相似文献
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《Clinical gastroenterology and hepatology》2022,20(5):1112-1121.e4
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目的 探讨米索前列醇联合依沙吖啶在中晚期妊娠引产中的应用效果。方法 选取西安交通大学附属3201医院2012年1月—2017年12月收治的138例中晚期妊娠引产患者,按引产方式分为对照组、观察组,各69例。对照组使用乳酸依沙吖啶注射液进行引产,观察组在对照组的基础上联合使用米索前列醇进行引产。比较两组引产效果、胎儿娩出时间、阴道出血量及不良反应的发生情况。结果 观察组引产有效率是100%,显著高于对照组的91.75%(P<0.05)。观察组胎儿娩出时间<35 h的人数占比显著高于对照组(P<0.05)。观察组患者阴道出血量显著低于对照组(P<0.05),两组不良反应的发生率间差异不显著。结论 米索前列醇联合依沙吖啶在中晚期妊娠引产中的效果较好,可显著提高引产有效率、缩短胎儿娩出时间,值得临床应用。 相似文献
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Mahwash Kassi Venkateshwar Polsani Robert C. Schutt Solomon Wong Faisal Nabi Michael J. Reardon Dipan J. Shah 《The Journal of thoracic and cardiovascular surgery》2019,157(5):1912-1922.e2
Background
The purpose of this analysis is to describe the differences in cardiac magnetic resonance characteristics between benign and malignant tumors, which would be helpful for surgical planning.Methods
This was a prospective cohort study of 130 patients who underwent cardiac magnetic resonance imaging for evaluation of a suspected cardiac mass. After excluding thrombi and tumors without definitive diagnosis, 66 tumors were evaluated for morphologic features and tissue composition.Results
Of the 66 patients, 39 (59.0%) had malignant tumors and 27 (41.0%) had benign tumors. Patients with malignant tumors were younger when compared with those with benign tumors (age 51 years [42.8-60.0] vs 65 years [60.0-71.0] median). Malignant tumors more often demonstrated tumor invasion (69% vs 0% P < .001) and were more often associated with pericardial effusion (41% vs 7.4% P = .004). Presence of first-pass perfusion (100% vs 33% P < .001) and late gadolinium enhancement (100% vs 59.2%, P < .001) were significantly higher in malignant tumors. In logistic regression modeling, tumor invasion (P < .001) and first-pass perfusion (P < .001) were independently associated with malignancy. Furthermore, using classification and regression tree analysis, we developed a decision tree algorithm to help differentiate benign from malignant tumors (diagnostic accuracy ~90%). The algorithm-weighted cost of misclassifying a malignant tumor as benign was twice that of classifying a benign tumor as malignant.Conclusions
Our study demonstrates that cardiac magnetic resonance imaging is a useful noninvasive method for differentiating malignant from benign cardiac tumors. Tumor size, invasion, and first-pass perfusion were useful imaging characteristics in differentiating benign from malignant tumors. 相似文献8.
H. Wessling C. L. Simosono M. Escosa-Bagé P. de las Heras-Echeverría 《Acta neurochirurgica》2006,148(6):673-675
Summary We present a case of blindness and Anton’s syndrome in a psychiatric patient with late diagnosis of a giant frontal meningioma.
The criteria for advanced diagnostic imaging in the psychiatric population are discussed. We conclude that MR or CT scan is
indicated in psychiatric in-patients who fail to improve with standard psychiatric treatment. This strategy should be submitted
to a cost-benefit analysis. 相似文献
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目的探讨精子冷冻环无保护剂玻璃化冷冻方法的可行性。方法正常精液标本上游处理后,进行常规冷冻和冷冻环无保护剂的玻璃化冷冻,复苏后分别从活力参数及电镜下超微结构等指标比较两种冷冻方法的效果。结果两种方法冷冻后精子存活率、活动率之间差异无显著性(48%∶48%;44.5%∶43.5%,P>0.05),但均较未冷冻的89%和88.5%明显下降(P<0.001)。超微结构亦较未冷冻时发生了一定的改变,但核结构基本保持完整。结论精子冷冻环无保护剂的玻璃化冷冻是一种简单、方便而行之有效的冷冻方法。 相似文献
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R. H. Wiesner B. J. Steffen K. M. David A. H. Chu R. D. Gordon J. R. Lake 《American journal of transplantation》2006,6(7):1609-1616
Mycophenolate mofetil (MMF) used in a triple-drug regimen has been shown to decrease acute rejection rates, compared to a double-drug regimen. The impact of MMF on late acute rejection (LAR) episodes has not been well described. To investigate the risk of LAR (rejection > or = 6 months post-transplantation) data from the Scientific Registry of Transplant Recipients (SRTR) were used. We studied adult primary liver transplant recipients transplanted between June 1, 1995, and April 30, 2004, with hepatitis C virus (HCV) (n = 3356), hepatitis B virus (HBV) (n = 550) or a nonviral (n = 5740) primary cause of liver disease who were recorded as receiving continuous 3-(MMF + Tacro + steroids) versus 2-drug (Tacro + steroids) therapy for at least 6 months immediately post transplantation. Kaplan-Meier analysis showed significantly lower LAR rates 4 years post-transplant in 3- versus 2-drug HCV, HBV and nonviral disease patients. Multivariate regression confirmed 3- versus 2-drug therapy to be associated with a decreased risk of LAR. Late graft survival was significantly lower at 4 years post-transplant for patients with LAR 6-12 months post-transplantation versus patients with early rejection (78.0% vs. 87.0%, p < 0.001) and no rejection (88.1%, p < 0.001). Three-drug versus 2-drug therapy for a minimum of 6 months may offer a better treatment strategy to avoid the consequences and expense of LAR episodes. 相似文献