RESUMO
A 35-year-old male patient presented to the emergency department with complains of fever, dyspnea and petechiae. The chest X-ray revealed signs of bipulmonary infiltration. 5 days ago, an illicit silicone injection was performed into the penis for cosmetic reasons. Due to progressive respiratory failure the patient required mechanical ventilation. Bronchoalveolar lavage revealed diffuse alveolar hemorrhage. Silicone pneumonitis with a severe acute respiratory failure based on silicone embolization syndrome was diagnosed. Prone positioning, lung-protective ventilation and corticosteroid therapy were initiated. The patient was discharged from ICU after 19 days. In an outpatient follow up, lung function was fully recovered. CONCLUSION: Silicone pneumonitis should be considered in case of fever, respiratory distress and alveolar hemorrhage linked to cosmetic procedures. High dose corticosteroid therapy and lung-protective ventilation strategies may help for complete recovery of lung function.
Assuntos
Pneumonia/induzido quimicamente , Insuficiência Respiratória/induzido quimicamente , Silicones/efeitos adversos , Corticosteroides/uso terapêutico , Adulto , Lavagem Broncoalveolar , Humanos , Masculino , Pneumonia/tratamento farmacológico , Respiração Artificial , Síndrome do Desconforto Respiratório , Insuficiência Respiratória/terapia , Silicones/administração & dosagem , Resultado do TratamentoAssuntos
Deleção de Genes , Proteínas do Tecido Nervoso/genética , Proteínas de Ligação a RNA , Deleção de Sequência/genética , Alelos , Sequência de Bases , Western Blotting , Pré-Escolar , Análise Mutacional de DNA , Feminino , Proteína do X Frágil da Deficiência Intelectual , Síndrome do Cromossomo X Frágil/genética , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas do Tecido Nervoso/análise , Proteínas Nucleares/genética , Linhagem , Reação em Cadeia da Polimerase , Transativadores/genética , Repetições de Trinucleotídeos/genéticaRESUMO
Fragile-X syndrome, a frequent cause of inherited mental retardation, is characterised in almost all cases by a CGG-repeat expansion that is located within the FMR-1 gene and that prevents the expression of fragile-X mental retardation protein (FMRP). We describe a test that simultaneously allows the rapid detection of FMRP in fetal lymphocytes and distinguishes these from fetal erythrocytes. Routine molecular genetic methods fail in the rare cases where protein expression is blocked, although there is no repeat expansion. Furthermore, they are unsuitable in cases of advanced pregnancy. Our test proves extremely valuable under both these circumstances.
