Publications by authors named "Ines Rua"
Article Synopsis
- * Two novel pediatric patients with MCE deficiency, who are siblings of Arabic descent, experienced severe neurological symptoms, including coma and epilepsy, as well as significant intellectual and physical disabilities.
- * Genetic testing revealed a pathogenic variant in the MCE gene in both patients, allowing for correct diagnosis and treatment; however, the study found no clear link between specific genetic variants and the severity of clinical symptoms.
Introduction: Influenza virus is a common agent of pediatric infections. Most cases are mild, but severe illness and death can occur. We aimed to analyze severe cases associated the influenza virus and compare it with respiratory syncytial virus (RSV).
View Article and Find Full Text PDFPulse oximetry is now routinely used in neonatal resuscitation and for neonatal screening for congenital heart diseases. Beyond respiratory and cardiac diseases, hemoglobin (Hb) variants must be included in the differential diagnosis of low oxygen saturation detected by pulse oximetry. We aim to describe two cases of fetal Hb variant (heterozygous γ-globin gene (HBG1) mutation in exon 2 c.
View Article and Find Full Text PDFIntroduction And Aims: Although usually benign, varicella can lead to serious complications and sometimes long-term sequelae. Vaccines are safe and effective but not yet included in immunisation programmes in many countries. We aimed to quantify the impact on health-related quality of life (HRQoL) in terms of quality-adjusted life years (QALY) in children with varicella and their families, key to assessing cost-utility in countries with low mortality due to this infection.
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