RESUMEN
Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature.
Asunto(s)
Trastornos del Metabolismo del Hierro/genética , Proteínas de la Membrana/genética , Proteínas Mitocondriales/genética , Distrofias Neuroaxonales/genética , Paraplejía Espástica Hereditaria/genética , Exones , Femenino , Humanos , Mutación Missense , Adulto JovenRESUMEN
BACKGROUND: Transbronchial lung biopsy (TBBX) is a common respiratory diagnostic procedure performed to investigate several lung diseases. There are different types of forceps used to perform this procedure. The alligator and cupped (oval) forceps are most commonly used ones. To date, there are few studies that have compared the efficacy of these two types of forceps. This study compares the two types of forceps relating to the rate of complications and diagnostic value. METHODS: In this retrospective observational study, 40 patients who underwent TBBX using the alligator forceps were compared to a previous group of 40 patients who underwent the same procedure using the cupped forceps. The two groups were compared with respect to the rate of complications (bleeding and pneumothorax), diagnostic value and size of biopsies. RESULTS: The rate of complications was higher in patients who underwent TBBX using alligator forceps, in which seven patients (17.5%) had significant bleeding in the group that used alligator forceps versus three patients (7.5%) in cupped forceps group. Pneumothorax developed in three patients, all of whom were in the alligator forceps group. While there was no significant difference in the adequacy and size of the samples, the diagnostic yield was higher in the cupped forceps group. CONCLUSIONS: The results of the study showed that using cupped forceps in performing TBBX had fewer complications (pneumothorax and bleeding) and a higher diagnostic yield in comparison with alligator forceps, but the difference did not reach a statistical significant value.
