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Charles T. Rohrer MD Angela M. Lager PhD Erin G. Brooks MD Vanessa L. Horner PhD 《Journal of forensic sciences》2023,68(6):2065-2075
Sudden unexplained death in the young poses a diagnostically challenging situation for practicing autopsy pathologists, especially in the absence of anatomic and toxicological findings. Postmortem genetic testing may identify pathogenic variants in the deceased of such cases, including those associated with arrhythmogenic channelopathies and cardiomyopathies. The Wisconsin State Laboratory of Hygiene (WSLH) is a state-run public health laboratory which performs postmortem genetic testing at no cost to Wisconsin medical examiners and coroners. The current study examines sequencing data from 18 deceased patients (ages 2 months to 49 years, 5 females) submitted to WSLH, from 2016 to 2021. Panel-based analysis was performed on 10 cases, and whole exome sequencing was performed on the most recent 8 cases. Genetic variants were identified in 14 of 18 decedents (77.8%), including 7 with pathogenic or likely pathogenic variants (38.9%). Whole exome sequencing was more likely to yield a positive result, more variants per decedent, and a larger number of variants of uncertain significance. While panel-based testing may offer definitive pathogenic variants in some cases, less frequent variants may be excluded. Whole exome testing may identify rare variants missed by panels, but increased yield of variants of uncertain significance may be difficult to interpret. Postmortem genetic testing in young decedents of sudden unexplained death can provide invaluable information to autopsy pathologists to establish accurate cause and manner of death and to decedent's relatives to allow appropriate management. A public health laboratory model may be a financially advisable alternative to commercial laboratories for medical examiner's/coroner's offices. 相似文献
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Gayoye Martha Hunter Mateenah Manji Ambreena Matinda Miriam Sekalala Sharifah Chaudhary Rachna Lammasniemi Laura Munoth Shreya Prabhat Devyani Sen Jhuma Black Gillian Cowan Sharon Kennedy Chloë Munro Vanessa E. 《Feminist Legal Studies》2021,29(2):263-265
Feminist Legal Studies - In the original publication of the article, errors in the production stages resulted in Vanessa Munro being listed as sole author. 相似文献
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Vanessa Mak 《European Law Journal》2011,17(3):403-428
The discourse on the Europeanisation of private law appears gradually to be moving into new territory in which the central debate on convergence of private laws in Europe makes place for structural questions on private law development in a multi‐level European legal order. With the realisation that private law is and will remain complementary regulated at EU level and in national laws, a re‐orientation is called for that, in the words of Micklitz, ‘allows one to determine which norms shall be elaborated and enforced at what level and by whom’. This article accepts that such a re‐orientation is needed in relation to substance, process, instruments and enforcement; a more fundamental question needs to be addressed, however, in order to ensure coherence in the development of private law in Europe. As can be gleaned from existing practice in EU consumer law, competition law, and financial market regulation, a deeply engrained tension between market integration and protectionist policies in Community law has resulted in incoherent regulation at EU level, which filters through into national legal systems. This puts at risk fundamental values of private law, such as certainty and fairness. A solution for this is proposed by shifting the focus from national private laws to the political and doctrinal structure of EU private law, and the normative framework it provides. General principles of EU private law, it is argued, could and should provide a counterweight to the problem of conflicting policies and set out a guideline for the future development of European private law. 相似文献
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The focus of this paper is the issue of continuing birth family involvement in the child’s life once the child is living in care. Drawing on a psychosocial study and free association narrative interviews with care leavers it focuses on the harm to a young woman called Frances, caused by direct contact with her birth family and the cessation of such contact. The paper addresses the tension between these two types of harm, in particular the role of contact in safeguarding and promoting the welfare of children in care. It presents an argument for the child’s care plan to emphasise the need for ongoing review of the role and impact of the child’s close relationships and contact with their birth family once the child is in care. This includes ongoing consideration of the child’s changing relationship with the birth mother and siblings with a view to reconciliation in young adulthood. 相似文献
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Comparative Analysis of the Public Health Role of Two Types of Death Investigation Systems in Texas: Application of Essential Services 下载免费PDF全文
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