RESUMEN
Human HDR (hypoparathyroidism, deafness and renal dysplasia)-syndrome is caused by haploinsufficiency of zinc-finger transcription factor GATA3. The hearing loss due to GATA3 haploinsufficiency has been shown to be peripheral in origin, but it is unclear to what extent potential aberrations in the outer hair cells (OHCs) contribute to this disorder. To further elucidate the pathophysiological mechanism underlying the hearing defect in HDR-syndrome, we investigated the OHCs in heterozygous Gata3-knockout mice at both the functional and morphological level. While the signal-to-noise ratios of distortion product otoacoustic emissions (DPOAE) in wild type mice did not change significantly during the first half-year of live, those in the heterozygous Gata3 mice decreased dramatically. In addition, both light microscopic and transmission electron microscopic analyses showed that the number of OHCs containing vacuoles was increased in the mutants. Together, these findings indicate that outer hair cell malfunctioning plays a major role in the hearing loss in HDR-syndrome.
Asunto(s)
Potenciales Microfónicos de la Cóclea/genética , Factor de Transcripción GATA3/genética , Células Ciliadas Auditivas Externas/metabolismo , Células Ciliadas Auditivas Externas/fisiopatología , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/fisiopatología , Factores de Edad , Animales , Nervio Coclear/fisiopatología , Citoplasma/patología , Citoplasma/ultraestructura , Modelos Animales de Enfermedad , Potenciales Evocados Auditivos/genética , Femenino , Genotipo , Células Ciliadas Auditivas Externas/patología , Pérdida Auditiva Sensorineural/patología , Hipoparatiroidismo/complicaciones , Hipoparatiroidismo/genética , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Microscopía Electrónica de Transmisión , Riñón Displástico Multiquístico/complicaciones , Riñón Displástico Multiquístico/genética , Ganglio Espiral de la Cóclea/fisiopatología , Transmisión Sináptica/genética , Vacuolas/patología , Vacuolas/ultraestructuraRESUMEN
The objective was to present our experience in the brochoscopic removal of foreign bodies in children. This was carried out through a retrospective analysis of the medical records of 96 patients in whom endoscopic removal of an inhaled foreign body was required, at the department of paediatric otorhinolaryngology, Eramus Medical Centre, Rotterdam. The participants were all children who underwent bronchoscopy after suspected foreign body aspiration from 1990 to 2000. The main outcome measures were confirmed diagnosis of foreign body aspiration and localization of aspirated foreign body. It was seen that in children up to 3 years of age, there was no significant difference in foreign body distribution and in children aged 3 and older foreign bodies were more commonly found in the right main bronchus. It was concluded that aspirated foreign bodies are equally distributed between the left and right main bronchus in children younger than 3 years. This could be explained by the handling of choking infants by their parents.
Asunto(s)
Bronquios , Cuerpos Extraños/terapia , Broncoscopía , Distribución de Chi-Cuadrado , Femenino , Cuerpos Extraños/epidemiología , Humanos , Lactante , Inhalación , Masculino , Prevalencia , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Two patients, men aged 58 and 28 years, developed pain in the throat while eating chicken and pork, respectively. In the emergency clinic and during a check-up on the following day, no foreign body could be found. On the third visit to the hospital, oesophagoscopy was performed. In one patient a chicken bone was found lying transversely in the oesophagus; after removal of this bone extraluminal pus was seen. In the other patient a pork bone was found in the right piriform recess, with a great deal of local pus. Both foreign bodies were removed during oesophagoscopy. The recovery of both patients was uneventful. A foreign body is found in the upper digestive tract in approximately one-third of the patients presenting to an emergency department with a history of foreign body ingestion. Serious complications occur in less than 1%; however, these complications can be life-threatening. If, based on the anamnesis, physical examination or radiological evaluation, there is suspicion of a foreign body in the oesophagus, or if the examination is incomplete, then oesophagoscopy should be performed.