Publications by authors named "Sofia Quinteiro-Gonzalez"
Article Synopsis
- The Canary Islands show a notably high incidence of childhood-onset type 1 diabetes (T1D), driven partly by genetic factors including specific HLA alleles.
- Researchers studied HLA-DRB1 and HLA-DQB1 alleles in both T1D patients (309) and healthy children (222) from Gran Canaria to identify genetic risks.
- Certain alleles like DRB1*04 and DQB1*02 were found to have significant associations with T1D, while others demonstrated protective effects, indicating complex genetic influences in this population.
Article Synopsis
- The study explores the controversial link between Vitamin D levels and the incidence of type 1 diabetes (T1D) in children from the Canary Islands, an area with high T1D rates in Spain and Europe.
- Researchers assessed Vitamin D concentrations in serum from 146 T1D patients and 346 control children, finding higher levels in summer and autumn, but similar sufficiency rates between the two groups.
- While children with ketoacidosis exhibited lower Vitamin D levels, overall results showed no significant differences in Vitamin D concentrations between T1D patients and controls after accounting for acidosis.
Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to mutations in other genes (GCK, GLUD1, HADH, HNF1A, HNF4A, SLC16A1, UCP2, HK1), and with different syndromes.
Materials And Methods: Retrospective review of patients diagnosed with CH in this unit during the last 18 years (2001-2018).
Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because of this shared mechanism, these conditions have been collectively termed «RASopathies».
View Article and Find Full Text PDFCarbohydrate metabolism changes in cystic fibrosis.
J Pediatr Endocrinol Metab
May 2007
Aims: To assess the prevalence of impaired glucose tolerance (ITG) and diabetes mellitus (DMRCF) in a group of patients with cystic fibrosis (CF). To study clinical status-related variables and to compare age with the evolution of their carbohydrate metabolism (CHM).
Patients And Methods: Thirty patients with CF (1.