Muerte súbita de jóvenes: rendimiento diagnóstico de un programa autonómico de autopsia molecular con secuenciación masiva

Ripoll‐Vera, Tomás; Luengo, Consuelo Pérez; Alcázar, Juan Carlos Borondo; Ruíz, Ana Belén Mirete; Valle, Nieves Sánchez Del; Martín, Bernardí Barceló; García, Juan Luis Poncela; Buitrago, Gloria Gutiérrez; Martínez, C. Dasi; Villena, Juan Carlos Canós; Corvillo, Susana Moyano; Pallarés, Raquel Esgueva; Sancho, Juan Ramón Sancho; Pinedo, Gemma Guitart; Marín, Elena Hernández; García, Estela García; López, Albert Vingut; Rubio, Judit; Callizo, Nancy Govea; Pérez, Yolanda Gómez; Mesquida, C Melia; Heine, Damián; Andreo, Jordi Rosell; Crespí, Lorenzo Socías

doi:10.1016/j.recesp.2020.03.001

Cited by 7 publications

(4 citation statements)

References 27 publications

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“…Ripoll-Vera et al filtered for a very broad number of genes (194 to 380) related to arrhythmic sudden death for the molecular autopsy of 62 SCDs, obtaining an overall detection yield for pathogenic or probably pathogenic mutations of 31%, at the cost of finding a VUS in about 34% of cases [43]. Dewar et al published one of the largest studies to date employing a panel of 71 genes in 191 SUDs aged < 5 years.…”

Section: Next-generation Sequencing In Sudden Cardiac Deathmentioning

confidence: 99%

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era

et al. 2021

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Molecular autopsy is the process of investigating sudden death through genetic analysis. It is particularly useful in cases where traditional autopsy is negative or only shows non-diagnostic features, i.e., in sudden unexplained deaths (SUDs), which are often due to an underlying inherited arrhythmogenic cardiac disease. The final goal of molecular autopsy in SUD cases is to aid medico-legal inquiries and to guide cascade genetic screening of the victim’s relatives. Early attempts of molecular autopsy relied on Sanger sequencing, which, despite being accurate and easy to use, has a low throughput and can only be employed to analyse a small panel of genes. Conversely, the recent adoption of next-generation sequencing (NGS) technologies has allowed exome/genome wide examination, providing an increase in detection of pathogenic variants and the discovery of newer genotype-phenotype associations. NGS has nonetheless brought new challenges to molecular autopsy, especially regarding the clinical interpretation of the large number of variants of unknown significance detected in each individual.

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Section: Next-generation Sequencing In Sudden Cardiac Deathmentioning

confidence: 99%

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era

et al. 2021

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“…as well as dietary and nutritional supplements. As a result, a holistic wellbeing approach towards life takes the centre stage while people are stuck to their homes [8].…”

Section: Shift Towards a Healthier Lifestyle Hygiene And Cleanlinessmentioning

confidence: 99%

A Silver Hope in the Dreadful Pandemic: Shift towards a Healthier Lifestyle, Hygiene and Cleanliness

Dhabalia

2021

JPRI

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The COVID-19 pandemic has spread its terror globally for over a year now. There is no continent that has been spared by this scourge. And perhaps a few small countries with no reported cases. Regardless, it is an irrefutable fact that this novel coronavirus pandemic has shaken the pillars of human civilization. For those unaware or living under a rock since the past year or so, the disease is caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) virus. The first cases were reported to the World Health Organisation as a cluster of pneumonia from unknown causes from Wuhan, China on the 31st December, 2019. And, thus began its reign of terror, spreading across the world, like hot cakes sold out in a carnival. That being said, humanity has suffered a lot at the hands of the pandemic. Innumerous deaths, sufferings, unending lockdowns and curfews, social problems, people losing their livelihoods and the list goes on. It is, thus, easy to give in to the mood of gloom and doom with all that is going on around us. However, just as with anything, there is a side too, that is scarcely talked about. There have also been some positive impacts of this pandemic that one couldn’t have foreseen beforehand. So, without further ado, below we have covered a few positive side effects of this curse of a pandemic!

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“…The SARS-CoV-2 virus can't be protected against by using existing vaccines, but the WHO still recommends for immunising and vaccinating against respiratory illnesses as an added precaution. (6) Medical personnel serve as an inspiration to others in taking preventive measures, and seeing them wearing masks enable others to follow the same. Wearing masks is highly encouraged, with penalties being applied in many places for those who don't follow the norm.…”

Section: Myths and Fake News Related To Cures Drugs And Preventive Measuresmentioning

confidence: 99%

Fake News Galore! More Contagious than COVID-19!

Chakraborty¹

2021

pae

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The novel coronavirus disease pandemic or as we know it better, COVID-19, has ravaged society on a global scale. For the uninitiated, the disease is caused by the particular virus- Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). It is seldom that we have a pandemic raging on that has brought with itself such a humongous scale of damage and on every single front of the human society, be it medical, economic, social or just about anything. With that it seems perfectly reasonable for COVID-19 to be at the tip of everyone’s tongue. The word itself creates an aura of dread and discomfort! But there’s something more sinister, and even more contagious that magnifies the ill effects of the disease, not by itself but through how we react to it! Have an idea? As with any trending topic, various social elements seem keen on spreading around and imposing on others, factually incorrect information and baseless rumours that aren’t only unfruitful but also counterproductive to the cause of fighting against the disease itself.

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Muerte súbita de jóvenes: rendimiento diagnóstico de un programa autonómico de autopsia molecular con secuenciación masiva

Cited by 7 publications

References 27 publications

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era

Molecular Autopsy of Sudden Cardiac Death in the Genomics Era

A Silver Hope in the Dreadful Pandemic: Shift towards a Healthier Lifestyle, Hygiene and Cleanliness

Fake News Galore! More Contagious than COVID-19!

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