AI Article Synopsis

  • The research reviewed findings from 2001 studies on sudden unexplained death published between 1997 and 2020, identifying sudden cardiac death and sudden unexpected epilepsy death as the primary causes.
  • The rise of high-throughput sequencing and bioinformatics has made molecular autopsy a valuable but underused tool in understanding the causes of these deaths, particularly in epilepsy cases.
  • Future research should focus on creating standardized diagnostic guidelines, expanding mutation screening, and improving the understanding of genetic variants linked to complex diseases.

Article Abstract

To better understand the cause of sudden unexplained death, our group evaluated the scientific results of related studies in a global context. A systematic search of the Web of Science, PubMed and MEDLINE databases identified 2001 studies related to this field published from 1997 to 2020. The studies were analyzed using bibliometric methods, and statistical maps were drawn to explore research trends and research frontiers. Sudden cardiac death and sudden unexpected epilepsy death were the two major causes of sudden unexplained deaths. With the rapid development of high-throughput sequencing technology and bioinformatics in the past 10 years, molecular autopsy has become an effective research method as well as a research hotspot for exploring the cause of sudden unexplained deaths. However, molecular autopsy is underutilized in the investigation of sudden unexpected death in epilepsy. Developing standardized guidelines for diagnostic strategies for the deceased and their families, expanding the screening of mutation spectrum of related diseases, studying the association between variants and diseases in complex genetic diseases, and improving variants interpretation guidelines and disease sequencing databases are future research directions.

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Source
http://dx.doi.org/10.1016/j.compbiomed.2022.105330DOI Listing

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