RESUMO
El síndrome de Angelman (SA) es una enfermedad neurológica y genética rara. Las principales características son el retraso mental de severo a profundo, la ausencia de lenguaje, déficit de atención e hiperactividad, trastornos de movimiento con temblores y características dismórficas. Entre las manifestaciones orales se pueden encontrar diastemas, protrusión lingual, prognatismo, boca amplia, labio superior delgado, babeo, deglución atípica, y problemas de masticación. La literatura dental respecto al síndrome es escasa. El objetivo de este trabajo se basa en la presentación del caso de un niño con SA que fue atendido para su tratamiento dental en la Unidad de Salud Bucodental para Niños con discapacidad (USBD-D) del Servicio Madrileño de Salud (Sermas) (AU)
Angelman syndrome (AS) is a rare genetic neurological disease. The main features are delayed neuropsychological and intellectual development, the absence of language, attention deficit and hyperactivity, movement disorders and tremors with dysmorphic features. The main oral manifestations are diastemas, tongue thrusting, mandibular prognathism, wide mouth, thin upper lip, drooling, atypical swallowing, and chewing problems. The dental literature on the syndrome is rare. The aim of this work is based on the presentation of the case of an AS child who was treated for their dental treatment in the Unit of Oral Health for Children with Disabilities (USBD-D)of the Madrid Health Service (Sermas) (AU)
Assuntos
Humanos , Masculino , Criança , Síndrome de Angelman/complicações , Doenças da Boca/cirurgia , Assistência Odontológica para a Pessoa com Deficiência/métodos , Anestesia Geral , Pacientes Desistentes do TratamentoRESUMO
GD25 cells lacking the beta1 integrin subunit or expressing beta1A with certain cytoplasmic mutations have poor directed cell migration to platelet-derived growth factor (PDGF) or epidermal growth factor (EGF), ligands of receptor tyrosine kinases, or to lysophosphatidic acid (LPA), a ligand of G-protein-coupled receptors (Sakai, T., Zhang, Q., Fässler, R., and Mosher, D. F. (1998) J. Cell Biol. 141, 527-538 and Sakai, T., Peyruchaud, O., Fässler, R., and Mosher, D. F. (1998) J. Biol. Chem. 273, 19378-19382). We demonstrate here that LPA synergizes with signals induced by beta1A integrins and ligated EGF or PDGF receptors to modulate migration. When LPA was mixed with EGF or PDGF, migration was greater than with EGF or PDGF alone. The enhancement was greater for beta1A-expressing cells than for beta1-null cells. Cells expressing beta1A with mutations of prolines or tyrosines in conserved cytoplasmic NPXY motifs had blunted migratory responses to mixtures of LPA and EGF or PDGF. The major effects on beta1A-expressing cells of LPA when combined with EGF or PDGF were to sensitize cells so that maximal responses were obtained with >10-fold lower concentrations of growth factor and increase the chemokinetic component of migration. Sensitization by LPA was lost when cells were preincubated with pertussis toxin or C3 exotransferase. There was no evidence for transactivation or sensitization of receptors for EGF or PDGF by LPA. EGF or PDGF and LPA caused activation of mitogen-activated protein kinase by pertussis toxin-insensitive and -sensitive pathways respectively, but activation was not additive. These findings indicate that signaling pathways initiated by the cytoplasmic domains of ligated beta1A integrins and tyrosine kinase receptors interact with signaling pathways initiated by LPA to facilitate directed cell migration.
