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131.
Malgorzata I. Srebniak Lisanne Mout Diane Van Opstal Robert‐Jan H. Galjaard 《Human mutation》2013,34(9):1298-1303
Using whole‐genome array testing instead of karyotyping in prenatal diagnosis for all indications may be desirable because of the higher diagnostic yield and shorter reporting time. The goal of this research was finding the optimal array resolution that could replace routine prenatal karyotyping in cases without ultrasound abnormalities, for example, referred for advanced maternal age or abnormal first trimester screening. As variants of unknown clinical significance (VOUS), if reported, might complicate decision‐making about continuation of pregnancy, such an optimal array resolution should have a high abnormality detection rate and reveal a minimal amount of VOUS. The array data of 465 fetuses were retrospectively evaluated with several resolution levels, and the Decipher microdeletion/microduplication syndrome list was reviewed to assess what could be theoretically missed with a lower resolution. A 0.5‐Mb resolution showed a high diagnostic yield potential and significantly minimized the number of VOUS. Based on our experience, we recommend genomic SNP array as a first‐tier test in prenatal diagnosis. The resolution should be chosen based on the indication. In cases of fetal ultrasound abnormalities or intrauterine fetal death (IUFD), high‐resolution analysis should be done. In other cases, we advise replacing karyotyping by SNP array analysis with 0.5 Mb resolution. 相似文献
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133.
Tadasu Ikeda Osamu Mokuda Yutaka Tokumori Akira Takeda Masato Tominaga Hiroto Mashiba 《Metabolism: clinical and experimental》1983,32(8):835-837
Using the isolated and perfused rat pancreas preparations, we examined whether or not the direct transmission of signals from the gastro-duodenum to the pancreatic islets is existent. Pancreases were isolated en bloc with stomach and the proximal portion of duodenum and were perfused without recirculation. After perfusion with 5.5mM glucose in the perfusate for 40 minutes, 1 ml solution of the following nutrients (0.9% and 9% NaCl, 5% and 50% glucose, 5% and 50% fructose) was respectively infused into the stomach. And ten minutes after the infusion, the pancreas was perfused with 16.7 mM glucose for 20 minutes. Although the glucose-induced insulin release was similar to controls in the pancreas with intragastric infusion of 0.9% NaCl, 5% glucose, and 5% fructose, it was significantly lowered in the pancreas with intragastric infusion of 9% NaCl, 50% glucose, and 50% fructose. These results indicate that there is a direct transmission of some signals from the gastro-duodenum to the pancreatic islets through intragastric high osmolarity. 相似文献
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Detailed Transabdominal Fetal Anatomic Scanning in the Late First Trimester Versus the Early Second Trimester of Pregnancy 下载免费PDF全文
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Degradation of circulating thyroglobulin 总被引:1,自引:0,他引:1
M Taura S Yamashita I Kubo M Izumi S Nagataki 《Metabolism: clinical and experimental》1985,34(10):945-948
Reported half lives of rat Tg were different according to various investigators. In order to elucidate whether the derivatives of rat Tg in the peripheral circulation affect the results of kinetic studies of Tg, the present study was performed to investigate kinetics of rat Tg after separation of 19S Tg from its derivatives using gel-filtration. Radiolabeled Tg was obtained from thyroids of rats injected with 125I 24 hours before death, and subsequently purified by ammonium sulfate precipitation. The plasma samples obtained at varying time intervals after intravenous injection of 125I-rat Tg were fractionated on a Sephacryl S-300 column. As determined by sucrose density gradient, 99% of in vivo radiolabeled Tg was 19S. On gel-filtration, the injected labeled Tg and plasma samples obtained within two hours after injection showed a single peak in an identical area. A second peak in an area corresponding to a molecular weight of 60,000 to 70,000 appeared within six hours, and became as high as the first within 24 hours. In the second peak, 22.8 +/- 3.8% (mean +/- SE) of radioactivity was precipitated by anti-rat Tg antibody, and 14.4 +/- 1.7% (mean +/- SE) of radioactivity of its TCA precipitate was not extracted by n-butanol. Thus, the second peak could affect the results of Tg kinetic studies which utilize TCA precipitation, n-butanol extraction or RIA procedures. The half life of rat Tg in the present study was calculated from the disappearance curves of radioactivity of 19S Tg separated from other radioactive substances.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
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139.
目的:探讨基层医院院前急救及多通道合作对蛛网膜下腔出血的病因诊断及疗效的影响,初步分析预后的影响因素。方法回顾性分析2012年8月~2014年8月间,行院前急救及多通道合作救治的37例蛛网膜下腔出血患者资料。对其行院前急救,安全转送至医院后,统计患者院前急救及转运结局、发病至医院急诊时间及患者预后;统计患者年龄、高血压史、糖尿病史等一般信息,行多因素回归分析,明确患者预后的影响因素。结果院前急救期间死亡3例,余34例均安全转送入院,发病至医院急症时间平均(3.2±0.4)h。转诊治疗7例,死亡0例、再出血1例;非转诊治疗27例,均行保守治疗,死亡3例、再出血4例。患者预后与年龄、高血压史、转运与否、发病至医院急诊时间显著相关(P<0.05)。结论院前急救及多通道合作是基层医院处理蛛网膜下腔出血的有效方案;患者预后与其年龄、既往史等一般资料密切相关,临床救治必须重视此类信息。 相似文献
140.
目的探讨昏迷患者的病因及其救治方法。方法回顾性分析重庆市肿瘤研究所急诊科2011年1月至2013年7月收治的327例昏迷患者的临床资料,分析其病因及抢救方法。结果 327例患者中,各类中毒共60例,占18.3%,代谢性疾病共72例,占22.0%,颅脑疾病共117例,占35.8%,心血管疾病共58例,占17.7%,物理性损害20例,占6.1%。经抢救后,病情好转81例,稳定166例,恶化65例,死亡15例,病死率为4.6%。结论急诊内科昏迷患者早期明确诊断以及有效的急救措施可提高昏迷患者抢救成功率。 相似文献