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1.
Carlos Casas-Arozamena Cristian Pablo Moiola Ana Vilar Marta Bouso Juan Cueva Silvia Cabrera Victoria Sampayo Efigenia Arias Alicia Abalo Ángel García Ramón Manuel Lago-Lestón Sara Oltra Eva Díaz Juan Ruiz-Bañobre Rafael López-López Gema Moreno-Bueno Antonio Gil-Moreno Eva Colás Miguel Abal Laura Muinelo-Romay 《International journal of cancer. Journal international du cancer》2023,152(10):2206-2217
The analysis of mismatch repair proteins in solid tissue is the standard of care (SoC) for the microsatellite instability (MSI) characterization in endometrial cancer (EC). Uterine aspirates (UAs) or circulating-DNA (cfDNA) samples capture the intratumor heterogeneity and provide a more comprehensive and dynamic molecular diagnosis. Thus, MSI analysis by droplet-digital PCR (ddPCR) in UAs and cfDNA can provide a reliable tool to characterize and follow-up the disease. The UAs, paraffin-embedded tumor tissue (FFPE) and longitudinal plasma samples from a cohort of 90 EC patients were analyzed using ddPCR panel and compared to the SoC. A high concordance (96.67%) was obtained between the analysis of MSI markers in UAs and the SoC. Three discordant cases were validated as unstable by ddPCR on FFPE samples. Besides, a good overall concordance (70.27%) was obtained when comparing the performance of the ddPCR assay on UAs and cfDNA in high-risk tumors. Importantly, our results also evidenced the value of MSI analysis to monitor the disease evolution. MSI evaluation in minimally invasive samples shows great accuracy and sensitivity and provides a valuable tool for the molecular characterization and follow-up of endometrial tumors, opening new opportunities for personalized management of EC. 相似文献
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目的 建立同时测定注射用胸腺法新中乙腈、二氯甲烷、醋酸乙酯、苯和苯甲醚5种有机溶剂残留量的顶空气相色谱法。方法 采用Agilent DB-624(30 m×0.53 mm×3 μm)毛细管色谱柱;火焰离子化检测器;进样口温度200℃;检测器温度250℃;载气为氮气;载气体积流量为2.0 mL·min-1;分流比为10:1;升温程序:起始温度40℃,保持6 min,以8℃·min-1的速率升温至90℃,保持2 min,再以20℃·min-1的速率升温至200℃,保持5 min;采用顶空进样方式,顶空加热箱温度80℃,样品瓶平衡时间30 min。进行系统适用性、检测限(LOD)与定量限(LOQ)、线性关系和范围、加样回收率、精密度、稳定性、耐用性考察。结果 注射用胸腺法新中5种残留溶剂在各自线性浓度范围内与峰面积线性关系良好;平均加样回收率在95.7%~106.3%;精密度、稳定性、耐用性均符合要求。5批胸腺法新中均未检出5种有机溶剂。结论 建立的顶空气相色谱法操作简单、灵敏度和准确度高、重现性和耐用性好,可用于注射用胸腺法新中5种有机溶剂残留量的测定。 相似文献
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目的结合文献回顾观察Aicardi-Goutières综合征(AGS)影像学表现。方法回顾性分析3例经基因检测证实的AGS患儿,患儿月龄分别为3、5、8个月,均接受颅脑MR检查,其中1例(病例3)接受颅脑CT检查,结合文献分析其颅脑MRI及CT表现。结果颅脑MRI显示,病例1双侧侧脑室、双侧额颞部脑外间隙增宽;病例2未见明显异常;病例3脑萎缩,双侧侧脑室前角旁异常呈T1WI等信号、T2WI及T2-液体衰减翻转恢复(T2-FLAIR)序列呈稍高信号。颅脑CT显示病例3脑萎缩,双侧基底核区、双侧侧脑室前角旁钙化,双侧侧脑室前角旁低密度灶。结论颅内钙化、脑萎缩和脑白质营养不良为AGS常见影像学表现。 相似文献
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《Dental materials》2022,38(5):811-823
ObjectivesIn-vivo experimental techniques to understand the biomechanical behavior of a restored tooth, under varying oral conditions, is very limited because of the invasive nature of the study and complex tooth geometry structure. Therefore, 3D-Finite element analyses are used to understand the behavior of a restored tooth under varying oral conditions. In this study, the distribution of maximum principal stress (MaxPS) and the location of MaxPS on a restored tooth using six different commercially available dental resin composites under the influence of thermal and thermomechanical stimuli are performed.MethodsAn intact tooth was scanned using µ-CT and segmented to obtain separate geometric models of the tooth, including enamel and dentine. Then, a class II mesial-occlusal-distal (MOD) cavity was constructed for the tooth model. The restored tooth model was further meshed and imported to the commercial Finite Element (FE) software ANSYS. Thermal hot and cold stimuli at 50 °C and 2 °C, respectively, were applied on the occlusal and lingual surface of the tooth model with the tooth’s ambient temperature set at 37 °C. A uniform loading of 400 N was applied on the occlusal surface of the tooth to imitate the masticatory forces during the cyclic thermal stimuli.ResultsThe results of this study showed that the restorative materials with higher thermal conductivity showed a lower temperature gradient between the restoration and enamel, during the application of thermal stimuli, leading to a higher value of MaxPS on the restoration. Moreover, on applying thermal stimuli, the location of MaxPS at the restoration-enamel junction (REJ) changes based on the value of the coefficient of thermal expansion (CTE). The MaxPS distribution on the application of simultaneous thermal and mechanical stimuli was not only dependent on the elastic modulus of restorative materials but also their thermal properties such as the CTE and thermal conductivity. The weakest part of the restoration was at the REJ, as it experienced the peak stress level during the application of thermomechanical stimuli.SignificanceThe findings from this study suggest that restorative materials with lower values of elastic modulus, lower coefficient of thermal expansion and higher values of thermal conductivity result in lower stresses on the restoration. The outcomes from this study also suggest that the thermal and mechanical properties of a restorative material can have a considerable effect on the selection of restorative materials by dental clinicians over conventional restorative materials. 相似文献
7.
Ashlee B. Vargason Clesson E. Turner Craig D. Shriver Rachel E. Ellsworth 《Genetics in medicine》2022,24(1):232-237
PurposeIdentification of women with hereditary forms of cancer allows for precision medicine approaches to improve survival. Non-Hispanic Black (NHB) women in the US general population are less likely to undergo genetic testing or utilize risk-reducing strategies. Whether these disparities exist within the equal-access US military healthcare system is not known.MethodsGenetic test information and surgical procedures were extracted for all NHB and Non-Hispanic Whites (NHW) with invasive breast cancer. National Comprehensive Cancer Network criteria from the year of diagnosis were assessed for all patients. Data were analyzed using chi-square analysis with P < .05 defining significance.ResultsNHB were significantly (P = .009) more likely to meet criteria for genetic testing compared to NHW, however, test uptake did not differ significantly between populations (P = .292). While 81% of both populations with BRCA1/2 pathogenic variants elected for double mastectomy, NHW were two times more likely to undergo risk-reducing bilateral salpingo-oophorectomy.ConclusionThese data demonstrate that when barriers, such as cost and lack of insurance, were removed, NHB were as willing to pursue testing as their NHW counterparts. Increasing the availability of testing and clinical management for NHB with hereditary forms of cancer may help reduce disparate survival seen in the US general population. 相似文献
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《Nutrition, metabolism, and cardiovascular diseases : NMCD》2022,32(1):21-31
AimThis review aims to summarize and discuss some of the most relevant clinical trials in epidemiology, diagnostics, and treatment of hypertension published in 2020 and 2021.Data synthesisThe trials included in this review are related to hypertension onset age and risk for future cardiovascular disease, reliability of different blood pressure monitoring methods, role of exercise-induced hypertension, treatment of hypertension in patients with SARS-CoV-2 infection, management of hypertension high-risk patient groups, e.g., in the elderly (≥80 years) and patients with atrial fibrillation, and the interplay between nutrition and hypertension, as well as recent insights into renal denervation for treatment of hypertension.ConclusionsHypertension onset age, nighttime blood pressure levels and a riser pattern are relevant for the prognosis of future cardiovascular diseases. The risk of coronary heart disease appears to increase linearly with increasing exercise systolic blood pressure. Renin-angiotensin system blockers are not associated with an increased risk for a severe course of COVID-19. In elderly patients, a risk-benefit assessment of intensified blood pressure control should be individually evaluated. A J-shaped association between cardiovascular disease and achieved blood pressure could also be demonstrated in patients with atrial fibrillation on anticoagulation. Salt restriction and lifestyle modification remain effective options in treating hypertensive patients at low cardiovascular risk. Sodium glucose co-transporter 2 inhibitors and Glucagon-like peptide-1 receptor agonists show BP-lowering effects. Renal denervation should be considered as an additional or alternative treatment option in selected patients with uncontrolled hypertension. 相似文献
9.
目的 了解某国家级死因监测点居民死亡漏报情况,评价死因监测信息系统报告的完整性和准确性。 方法 某国家级死因监测点居民死亡信息来源于泸县3个抽样点。采用随机整群抽样的方法,在泸县抽取3个镇(抽样点)共42个村/社,分别从派出所、社事办、妇幼、村(居委会)等渠道收集抽样点2018—2020年全部人口死亡信息,与“人口死因监测信息管理系统”死亡报告数据进行比较,计算漏报率。对“人口死因监测信息管理系统”中抽样点居民死亡报告卡进行审核,评估死因诊断的可靠性和编码质量。 结果 泸县人群总死亡漏报率为9.38%;2018—2020年,漏报率逐渐下降,分别为18.31%、7.53%、2.16%,年度变化百分比为-11.9%,变化趋势差异有统计学意义(t=-5.175,P<0.001),抽样点死因诊断可靠性和准确性较高,可靠诊断单位占比81.81%,可靠诊断依据占比75.67%,根本死因编码错误率为0.21%。 结论 泸县死因监测数据质量较好,但仍需进一步降低漏报率,提高死因监测数据的完整性和诊断的可靠性。 相似文献
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《Drug discovery today》2022,27(1):280-291
Positron emission tomography (PET) is an extensively used nuclear functional imaging technique, especially for central nervous system (CNS) and oncological disorders. Currently, drug development is a lengthy and costly pursuit. Imaging with PET radiotracers could be an effective way to hasten drug discovery and advancement, because it facilitates the monitoring of key facets, such as receptor occupancy quantification, drug biodistribution, pharmacokinetic (PK) analyses, validation of target engagement, treatment monitoring, and measurement of neurotransmitter concentrations. These parameters demand careful analyses for the robust appraisal of newly formulated drugs during preclinical and clinical trials. In this review, we discuss the usage of PET imaging in radiopharmaceutical development; drug development approaches with PET imaging; and PET developments in oncological and cardiac drug discovery. 相似文献