Publications by authors named "Cristina Gil-Ortuno"
Whole Sequencing and Detailed Analysis of SARS-CoV-2 Genomes in Southeast Spain: Identification of Recurrent Mutations in the 20E (EU1) Variant with Some Clinical Implications.
María José López-Andreo María Rosario Vicente-Romero Enrique Bernal Inmaculada Navarro-González Francisco Salazar-Martínez
Diseases
March 2023
Article Synopsis
- The study analyzes 88 SARS-CoV-2 genomes from COVID-19 patients at "Reina Sofía" Hospital in Spain between October 2020 and April 2021 to track emerging variants and mutations.
- It notes that the 20E (EU1) variant was predominant at 71.6%, while the Alpha variant was rising at 14.8%, with concerning mutations found in the spike protein of some 20E genomes.
- Statistical analysis indicates a significant correlation between the age of patients and the severity of COVID-19 symptoms, particularly in samples with more genetic mutations.
Article Synopsis
- Brugada syndrome (BrS) is a serious heart condition linked to sudden death in young adults, with few known genetic factors beyond the SCN5A gene.
- A large study involving 2,820 BrS cases and 10,001 controls revealed 21 genetic signals across 12 locations, suggesting a strong genetic component to the disorder.
- Key findings highlight the importance of transcription regulation in BrS development and introduce microtubule-related mechanisms that affect the expression of a key cardiac protein, shedding light on the disorder's genetic and molecular basis.
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.
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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- Strict guidelines can make it hard to tell if certain genetic changes are harmful for conditions like long QT syndrome and Brugada syndrome, leading to many unclear results.
- Scientists compared genetic data from patients with these conditions to other population data to create better rules that help identify which genetic changes are serious.
- Their new approach showed that they could find more harmful genetic variants in European patients, making genetic testing for these heart diseases more accurate and reliable.
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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