Publications by authors named "Elisa Nicolas Rocamora"

Article Synopsis
  • The study investigates the impact of genetic variations (SNPs) in the ACE2 and related genes on the severity of COVID-19 among patients, revealing some SNPs provide protective effects while others increase risk of severe outcomes.
  • A total of 318 COVID-19 patients were categorized based on their symptoms, with analyses highlighting the relationship between specific SNPs and disease severity, alongside traditional risk factors like age and comorbidities.
  • Key findings show that certain ACE2 SNPs can significantly influence disease progression, with two SNPs linked to protective effects and two others associated with higher risk for hospitalization and severe illness.
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Inherited cardiovascular diseases are an important cause of sudden cardiac death (SD). The use of risk scores identify high risk patients who would benefit from an implantable cardioverter-defibrillators (ICDs). The development of automated devices for out-of-hospital cardiac arrest improves early resuscitation.

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Introduction And Objectives: According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ≥ 2 risk factors: male sex, left ventricular ejection fraction (LVEF) <45%, nonsustained ventricular tachycardia (NSVT), and nonmissense genetic variants. In this study we aimed to describe the clinical characteristics of carriers of LMNA genetic variants among individuals from a Spanish cardiac-laminopathies cohort (REDLAMINA registry) and to assess previously reported risk criteria.

Methods: The relationship between risk factors and cardiovascular events was evaluated in a cohort of 140 carriers (age ≥ 16 years) of pathogenic LMNA variants (54 probands, 86 relatives).

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Hypertrophic cardiomyopathy (HCM) is characterized by an abnormal increase in myocardial mass that affects cardiac structure and function. HCM is the most common inherited cardiovascular disease in humans (0.2%) and the most common cardiovascular disease in cats (14.

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