Publications by authors named "Yolanda Ruiz Del Prado"
A newborn was referred due to clinical and radiological suspicion of esophageal atresia (EA) type III. Surgery revealed an esophagus without evident interruptions; however, intraoperative advancement of the nasogastric tube was unsuccessful, and the distal esophagus inflated with each ventilation, indicating the presence of a distal fistula. An intraoperative esophago-tracheobronchoscopy showed a proximal esophageal pouch with a tiny tracheoesophageal fistula and a large distal tracheoesophageal fistula.
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- DeSanto-Shinawi syndrome is a rare disorder linked to mutations in the WAC gene on chromosome 10, causing facial abnormalities, intellectual disability, and behavioral issues.
- The case report introduces a new deletion case and reviews existing cases, highlighting the differences between those caused by point mutations and deletions in the same genetic region.
- Identifying unique clinical features can help doctors in diagnosing the syndrome and determining the best tests to confirm it.
Background: We aimed to identify risk factors causing critical disease in hospitalized children with COVID-19 and to build a predictive model to anticipate the probability of need for critical care.
Methods: We conducted a multicenter, prospective study of children with SARS-CoV-2 infection in 52 Spanish hospitals. The primary outcome was the need for critical care.
Article Synopsis
- Enzymatic replacement therapy (ERT) has significantly improved early diagnosis and management of Gaucher disease (GD) in pediatric patients since its introduction in Spain in 1993, with 386 patients registered in the Spanish Registry of Gaucher Disease.
- The study reviewed data from 98 pediatric patients, revealing that those diagnosed after 1995 had earlier diagnoses and were generally less severe than those diagnosed before 1994, who demonstrated worse complications at presentation.
- Patients in the later cohort (≥1995) started ERT much sooner after diagnosis compared to earlier diagnosed patients (1.6 years vs. 5.2 years), indicating an overall improvement in treatment timing and outcomes for pediatric GD cases.