Publications by authors named "C Toledo-Gotor"
Article Synopsis
- Scientists studied tiny RNA molecules called miRNAs to understand how they affect baby weight at birth.
- They looked at umbilical cord samples from 23 babies who were either small, large, or just right for their age.
- They found changes in 6 specific miRNAs that might explain why some babies are small or large, showing a link between these molecules and birth weight.
Article Synopsis
- 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.
Introduction: Aicardi-Goutieres syndrome is a progressive encephalopathy with onset in the first year of life that conditions psychomotor retardation, microcephaly and pyramidal dysfunction. It has a prevalence of 1-5 in 10,000 newly live births. Most cases have autosomal recessive transmission, due to alteration in seven genes involved in the metabolism of interferon, which causes an increase in its levels in the blood and cerebrospinal fluid, and affects the brain (leukodystrophy, corticosubcortical atrophy, calcifications in the basal ganglia…), the skin and the immune system.
View Article and Find Full Text PDFBackground: Multiple lower cranial nerve palsies have been attributed to occipital condyle fractures in older children and adults, but no clinical details of other possible mechanisms have been described in infants.
Case Report: A 33-month-old boy suffered blunt head trauma. A bilateral skull base fracture was diagnosed, with favorable outcome during the first days after trauma.