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1.
Nat Genet ; 34(4): 421-8, 2003 Aug.
Article in English | MEDLINE | ID: mdl-12833159

ABSTRACT

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.


Subject(s)
Deafness/genetics , Gene Expression , Membrane Proteins/genetics , Proteins/genetics , Amino Acid Sequence , Animals , Chromosome Mapping , Cilia/physiology , Cilia/ultrastructure , DNA Mutational Analysis , DNA, Complementary/genetics , Genes, Recessive , Hair Cells, Auditory, Inner/ultrastructure , Hair Cells, Auditory, Outer/ultrastructure , Humans , Membrane Proteins/physiology , Mice , Mice, Mutant Strains , Mice, Transgenic , Molecular Sequence Data , Phenotype , Proteins/physiology , RNA, Messenger/genetics , RNA, Messenger/metabolism , Sequence Homology, Amino Acid , Species Specificity
2.
Prehosp Disaster Med ; 35(2): 128-132, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31973785

ABSTRACT

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)

Subject(s)
Craniocerebral Trauma/epidemiology , Emergency Medical Services/statistics & numerical data , Intubation, Intratracheal/statistics & numerical data , Practice Patterns, Physicians'/statistics & numerical data , Adolescent , Adult , Aged , Aged, 80 and over , Craniocerebral Trauma/pathology , Craniocerebral Trauma/therapy , Female , Glasgow Coma Scale , Humans , Male , Mexico/epidemiology , Middle Aged , Retrospective Studies , Young Adult
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