1.
J Pediatr
; 240: 284-291.e9, 2022 01.
Artículo
en Inglés
| MEDLINE
| ID: mdl-34555379
RESUMEN
KIF12 has been identified as a cholestasis-associated candidate gene. We describe 6 cases from 4 unrelated families with diverse cholestatic phenotypes carrying 2 different homozygous KIF12 truncating variants. Immunofluorescence investigations of paraffin-embedded liver sections suggest that KIF12-associated impaired functional cell polarity may be the underlying cause.
Asunto(s)
Colestasis/genética , Cinesinas/genética , Hepatopatías/genética , Adolescente , Niño , Preescolar , Femenino , Predisposición Genética a la Enfermedad , Hepatocitos/metabolismo , Humanos , Masculino , Mutación , Secuenciación Completa del Genoma
2.
J Pediatr
; 158(2): 329-33, 2011 Feb.
Artículo
en Inglés
| MEDLINE
| ID: mdl-21163496
RESUMEN
A retrospective analysis of H1N1 vaccination in 127 children at ≥ 1 year after liver transplantation found only moderate acceptance (56%) of the vaccination. Physical adverse events were of moderate severity, but frequent (74%). Protection against infection was good, with infection rates of 4% in vaccinated children versus 25% in nonvaccinated children.