RESUMO
OBJECTIVES: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations. METHODS: Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed. RESULTS: We identified 27 unique SLC26A4 variants in 31 probands. The variants c.1673A > G (p.N558S), c.1708-1G > A, c.1952C > T (p.P651L), and c.2090-1G > A have not been previously reported. The p.N558S variant was detected in two unrelated Mexican families. CONCLUSION: A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.
Assuntos
Perda Auditiva Neurossensorial/genética , Proteínas de Membrana Transportadoras/genética , Orelha Interna/patologia , Feminino , Humanos , Irã (Geográfico) , Masculino , México , Mutação , Análise de Sequência de DNA , Transportadores de Sulfato , TurquiaRESUMO
La aspiración de hidrocarburos puede causar un daño significativo a los pulmones al inducir una respuesta inflamatoria, alveolitis exudativa hemorrágica y pérdida de la función del tensioactivo pulmonar. El efecto secundario más grave de la aspiración de hidrocarburos es la neumonía por aspiración. Anteriormente se han notificado casos de neumotórax, neumatocele, síndrome de dificultad respiratoria aguda (SDRA), absceso pulmonar, fístula broncopleural, derrame pleural bilateral hemorrágico y pioneumotórax. En este artículo presentamos el caso de un paciente hospitalizado debido a neumonía por aspiración que desarrolló pleuritis y neumotórax después de ingerir disolvente para pintura. Se presenta este caso ya que raramente se ha informado en niños como causa de complicaciones pulmonares diferentes. Es necesario evaluar integralmente a los pacientes con complicaciones asociadas a la intoxicación por hidrocarburos. Debe evitarse el alta hospitalaria temprana de los pacientes, quienes deben ser controlados durante, al menos, 48 horas, aunque no tengan síntomas respiratorios. Debe considerarse que los pacientes con neumonía química pueden tener complicaciones pulmonares graves.
Hydrocarbon aspiration (HA) can cause significant lung disease by inducing an inflammatory response, hemorrhagic exudative alveolitis, and loss of surfactant function. The most serious side effect of HA is aspiration pneumonia. Pneumothorax, pneumatocele, acute respiratory distress syndrome (ARDS), pulmonary abscess, bronchopleural fistula, bilateral hemorrhagic pleural effusion and pyopneumothorax were previously reported. Hereby we report a patient hospitalized due to aspiration pneumonia who developed pleurisy and pneumothorax after drinking paint thinner. It is presented as it was seldom reported in children to cause distinct pulmonary complications. Patients with complaints associated withhydrocarbon poisoning must be fully evaluated. They must not be discharged from the hospital early and must be followed for at least 48 hours even if they don't have respiratory symptoms. It should be kept in mind that severe pulmonary complications can develop in patients with chemical pneumonia.
Assuntos
Humanos , Masculino , Criança , Pleurisia/induzido quimicamente , Pneumonia/induzido quimicamente , Pneumotórax/induzido quimicamente , Solventes/intoxicação , Hidrocarbonetos/intoxicação , Pleurisia/complicações , Pneumonia/complicações , Pneumotórax/complicações , Índice de Gravidade de DoençaRESUMO
Hydrocarbon aspiration (HA) can cause significant lung disease by inducing an inflammatory response, hemorrhagic exudative alveolitis, and loss of surfactant function. The most serious side effect of HA is aspiration pneumonia. Pneumothorax, pneumatocele, acute respiratory distress syndrome (ARDS), pulmonary abscess, bronchopleural fistula, bilateral hemorrhagic pleural effusion and pyopneumothorax were previously reported. Hereby we report a patient hospitalized due to aspiration pneumonia who developed pleurisy and pneumothorax after drinking paint thinner. It is presented as it was seldom reported in children to cause distinct pulmonary complications. Patients with complaints associated withhydrocarbon poisoning must be fully evaluated. They must not be discharged from the hospital early and must be followed for at least 48 hours even if they don't have respiratory symptoms. It should be kept in mind that severe pulmonary complications can develop in patients with chemical pneumonia.
La aspiración de hidrocarburos puede causar un daño significativo a los pulmones al inducir una respuesta inflamatoria, alveolitis exudativa hemorrágica y pérdida de la función del tensioactivo pulmonar. El efecto secundario más grave de la aspiración de hidrocarburos es la neumonía por aspiración. Anteriormente se han notificado casos de neumotórax, neumatocele, síndrome de dificultad respiratoria aguda (SDRA), absceso pulmonar, fístula broncopleural, derrame pleural bilateral hemorrágico y pioneumotórax. En este artículo presentamos el caso de un paciente hospitalizado debido a neumonía por aspiración que desarrolló pleuritis y neumotórax después de ingerir disolvente para pintura. Se presenta este caso ya que raramente se ha informado en niños como causa de complicaciones pulmonares diferentes. Es necesario evaluar integralmente a los pacientes con complicaciones asociadas a la intoxicación por hidrocarburos. Debe evitarse el alta hospitalaria temprana de los pacientes, quienes deben ser controlados durante, al menos, 48 horas, aunque no tengan síntomas respiratorios. Debe considerarse que los pacientes con neumonía química pueden tener complicaciones pulmonares graves.