Publications by authors named "M Villarroel"
Chondrodysplasias with multiple dislocations are rare skeletal disorders characterized by hyperlaxity, joint dislocations, and growth retardation. Chondrodysplasias with multiple dislocations have been linked to pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis. In this study, by exome sequencing analysis, we identified a homozygous nonsense variant (NM_001297654.
View Article and Find Full Text PDFAnterior gradient 2 (AGR2) is a protein disulfide isomerase that is important for protein processing in the endoplasmic reticulum and is essential for mucin production in the digestive and respiratory tracts. Bi-allelic AGR2 variants were recently found to cause recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD; MIM # 620233), although the mechanisms behind this condition remain unclear. To date, at least 15 patients with homozygous AGR2 variants have been reported.
View Article and Find Full Text PDFArticle Synopsis
- The study focuses on developing guidelines for the safe use of fluoroscopy in gastrointestinal endoscopy, balancing its benefits with concerns about radiation exposure to patients and healthcare workers.
- A modified Delphi method was used, involving three rounds of surveys with 46 experts, resulting in 43 proposed statements, of which 31 achieved consensus and were prioritized across various categories such as Patient Safety and Staff Safety.
- The final consensus statements highlight the importance of education and safety measures, with a significant majority rated as high priority, aiming to enhance safety culture in healthcare settings while utilizing fluoroscopy.
International Society of Paediatric Oncology (SIOP) Global Mapping Program: Analysis of healthcare centers in countries of the Latin American Society of Pediatric Oncology (SLAOP).
Pediatr Blood Cancer
November 2024
Background: The International Society of Paediatric Oncology Society Global Mapping Program aims to describe the local pediatric oncology capacities. Here, we report the data from Latin America.
Methods: A 10-question survey was distributed among chairs of pediatric oncology services.
Background: Invasive fungal diseases (IFD) are high morbidity and mortality infections in children with cancer suffering episodes of high-risk febrile neutropenia (HRFN). IFD epidemiology has changed in the last two decades, with an increasing incidence in recent years due to the growing number of immunocompromised children at risk for IFD. The aim of this study was to evaluate the incidence of IFD in children with cancer in the period 2016-2020 compared to 2004-2006 in six hospitals in Chile.
View Article and Find Full Text PDF