RESUMO
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler gene encodes a protein involved in the elongation and maintenance of stereocilia in both inner hair cells (IHCs) and outer hair cells (OHCs). BAC-mediated transgene correction of the mouse phenotype and mutation analysis identified the causative gene as encoding a novel PDZ protein called whirlin. The gene encoding whirlin also underlies the human autosomal recessive deafness locus DFNB31. In the mouse cochlea, whirlin is expressed in the sensory IHC and OHC stereocilia. Our findings suggest that this novel PDZ domain-containing molecule acts as an organizer of submembranous molecular complexes that control the coordinated actin polymerization and membrane growth of stereocilia.
Assuntos
Surdez/genética , Expressão Gênica , Proteínas de Membrana/genética , Proteínas/genética , Sequência de Aminoácidos , Animais , Mapeamento Cromossômico , Cílios/fisiologia , Cílios/ultraestrutura , Análise Mutacional de DNA , DNA Complementar/genética , Genes Recessivos , Células Ciliadas Auditivas Internas/ultraestrutura , Células Ciliadas Auditivas Externas/ultraestrutura , Humanos , Proteínas de Membrana/fisiologia , Camundongos , Camundongos Mutantes , Camundongos Transgênicos , Dados de Sequência Molecular , Fenótipo , Proteínas/fisiologia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Homologia de Sequência de Aminoácidos , Especificidade da EspécieRESUMO
INTRODUCTION: In Mexico, physicians have become part of public service prehospital care. Head injured patients are a sensitive group that can benefit from early advanced measures to protect the airway, with the objective to reduce hypoxia and maintain normocapnia. PROBLEM: The occurrence of endotracheal intubation to patients with severe head injuries by prehospital physicians working at Mexico City's Service of Emergency Medical Care (SAMU) is unknown. METHODS: A retrospective analysis of five-year data (2012-2016) from Mexico City's Medical Emergencies Regulation Center was performed. Only SAMU ambulance services were analyzed. Adult patients with a prehospital diagnosis of head injury based on mechanism of injury and physical examination with a Glasgow Coma Scale (GCS) Assuntos
Traumatismos Craniocerebrais/epidemiologia
, Serviços Médicos de Emergência/estatística & dados numéricos
, Intubação Intratraqueal/estatística & dados numéricos
, Padrões de Prática Médica/estatística & dados numéricos
, Adolescente
, Adulto
, Idoso
, Idoso de 80 Anos ou mais
, Traumatismos Craniocerebrais/patologia
, Traumatismos Craniocerebrais/terapia
, Feminino
, Escala de Coma de Glasgow
, Humanos
, Masculino
, México/epidemiologia
, Pessoa de Meia-Idade
, Estudos Retrospectivos
, Adulto Jovem