Publications by authors named "M T Monserrat-Garcia"
Article Synopsis
- Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
- The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
- Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
Article Synopsis
- - Oculocutaneous albinism (OCA) is a genetic disorder affecting melanin production, studied in pediatric patients through dermatological and ophthalmological exams, including advanced imaging techniques like OCT.
- - The study found that individuals with a single pathogenic mutation showed milder symptoms, while more severe cases were linked to a greater number of genetic mutations and polymorphisms.
- - A common observation across all OCA subgroups was paler dermoscopic patterns, particularly varied vascular patterns, which indicated more severe presentations of the disease.
Thermography for the follow-up of skin and soft tissue infections.
Enferm Infecc Microbiol Clin (Engl Ed)
June 2023
Background: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae.
Objective: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH.
Methods: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry.
Background: Oral propranolol accelerates the involution of infantile haemangiomas (IHs). However, it is not clear whether IHs treated with oral propranolol are associated with fewer sequelae than when left untreated.
Objectives: To quantify and describe sequelae associated with IHs treated with oral propranolol, and to explore whether treated IHs are associated with fewer sequelae than untreated IHs.