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Molecular Autopsy of Desmosomal Protein Plakophilin‐2 in Sudden Unexplained Nocturnal Death Syndrome 下载免费PDF全文
Plakophilin‐2 (PKP2) variants could produce a phenotype of Brugada syndrome (BrS), which seems to be most likely the same allelic disorder as some sudden unexplained nocturnal death syndrome (SUNDS). All coding regions of PKP2 gene in 119 SUNDS victims were genetically screened using PCR and direct Sanger sequencing methods. Three novel mutations (p.Ala159Thr, p.Val200Val, and p.Gly265Glu), one novel rare polymorphism (p.Thr723Thr), and eight reported polymorphisms were identified. A compound mutation (p.Ala159Thr and p.Gly265Glu) and a rare polymorphism (p.Thr723Thr) were found in one SUNDS case with absence of the cardiomyopathic features. The detected compound mutation identified in this first investigation of PKP2 genetic phenotype in SUNDS is regarded as the plausible genetic cause of this SUNDS case. The rare incidence of PKP2 mutation in SUNDS (1%) supports the previous viewpoint that SUNDS is most likely an allelic disorder as BrS. 相似文献
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Preclinical Assessment of Safety and Efficacy of Fluorescent Dye for Detecting Dermal Injuries (the injuries were both abrasions and incision) in a Murine Model 下载免费PDF全文
Anthony C. Bruce M.S. Yiqi Cao B.S. Catherine Henry B.S. Shayn M. Peirce Ph.D. Kathryn Laughon Ph.D. R.N. FAAN 《Journal of forensic sciences》2016,61(6):1493-1497
Objective documentation of tears and abrasions to the external genitalia after sexual assault is an important part of the forensic examination. A 1% aqueous solution of toluidine blue (TB) dye is often used to highlight injury, but the dye can be difficult to see on dark skin. We evaluated a fluorescent dye for detecting injuries on all skin colors in a relevant preclinical murine model. We compared the ability of trained, blinded observers to detect unstained wounds and wounds stained with 1% fluorescein sodium (FL) and with TB. We also evaluated the cutaneous wound healing response after application of both dyes. The no‐dye group had significantly fewer (p < 0.05) true‐positive identifications compared to all the dye groups. No differences in effectiveness were detected between dye treatments. All groups exhibited statistically similar healing rates. These findings support the evaluation of fluorescein sodium in a future clinical study with human subjects. 相似文献
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关于改进血手印显现方法的研究 总被引:2,自引:0,他引:2
文章根据血液的组成和特点,利用蛋白染色的原理,系统研究了在多种非渗透性和部分渗透性客体上应用四氯四碘、氨基黑10B、分散大红几种显现液显现血手印技术的显现效果,综合比较了各种配方的优越性。实验表明,这三种方法操作简单方便、用时少,显现出的手印纹线清晰、流畅,效果稳定,弥补了传统显现方法的不足。 相似文献
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Mélanie Loiseau MD Alice Matheux PharmD PhD Sandrine Sabini PharmD Stéphanie Cavard MD Anne-Sophie Advenier MD Agathe Pasquet Irène François-Purssell MD PhD Pascal Guerard MD PhD 《Journal of forensic sciences》2023,68(6):2200-2204
Nitrites are commonly used in the chemical, pharmaceutical, and food industries. Recently, they have been identified in cases of voluntary intoxication. We report the case of a 13-year-old girl who was found lifeless on her bed next to a glass containing a white powder and a bottle containing a white powder with a moistened appearance. External examination and autopsy revealed a nonspecific asphyxia syndrome, which was confirmed by the pathological analysis. Analysis of the samples revealed metoclopramide in the peripheral blood at a concentration of 0.402 mg/L (LC–HRMS). An analysis of the gastric contents was carried out after sodium nitrite was detected in the powders found near the body (Raman spectrometry). Nitrites were found in the gastric fluid at a concentration of 30.9 mg/L. Death occurred secondary to anoxia, following ingestion of nitrites; suicide kits are available on the web and nitrites are relatively easy to source and inexpensive. Nitrites are delivered in powder form to be dissolved in liquid, which may then be consumed with metoclopramide (or an alternative anti-emetic drug) to maximize absorption and reduce emesis. The toxic effect of nitrites lies in their oxidizing power, causing the transformation of hemoglobin into methemoglobin, which, when it accumulates, induces tissue anoxia resulting in death. There has been an alarming increase in the number of cases linked to suicide using nitrites or a nitrite suicide kit. The fact that nitrites are readily available online underscores the importance of establishing effective preventive measures such as limiting the access and use of this chemical. 相似文献
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目的:制备氯地滴耳液并建立其质量控制方法。方法:以氯霉素、地塞米松磷酸钠为主药制成滴耳液,采用高效液相色谱法测定这两组分含量。结果:氯霉素和地塞米松磷酸钠的线性范围分别为125~1 250μg/m l(r=0.999 7)、2.5~25.0μg/m l(r=0.999 1),平均加样回收率分别为99.77%(RSD=0.38%)、98.06%(RSD=0.42%)。结论:该制剂配制简单,成本低,质量可控。 相似文献