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Vol. 7 No. 2 (2016)
Julio - Diciembre

Artículos de investigación / Research papers

Diagnóstico bioquímico positivo en pacientes con sospecha clínica de Niemann Pick C. / Positive Biochemical Diagnosis in Patients with Clinical Suspicion of Niemann Pick C.

https://doi.org/10.19053/01217488.v7.n2.2016.4118

Published 2016-11-15

  • LIZ CAROLINA PARDO ECHEVERRIA

LIZ CAROLINA PARDO ECHEVERRIA
Universidad Pedagogica y Tecnologica de Colombia, Grupo de Estudios en Genética y Biología Molecular, GEBIMOL.

Abstract

Resumen

Se realizó tinción de Filipin a partir de cultivos de fibroblastos, provenientes de biopsias de piel de 73 pacientes candidatos clínicamente de padecer la enfermedad neurodegenerativa de herencia autosómica recesiva de Niemann Pick C, remitidos por los servicios de neurología y genética del país. Mediante análisis cualitativo de intensidad de fluorescencia perinuclear, se reportó un diagnóstico bioquímico positivo en 23 pacientes. La prueba t permitió inferir que no existen diferencias estadísticamente significativas en relación a la edad y el género de los pacientes.

 

Abstract

Filipin staining test was made from cultured fibroblasts from skin biopsies from 73 patients clinically
candidates of developing the neurodegenerative disease autosomal recessive Niemann Pick C, referred by the neurology and genetics in the country. Qualitative analysis by perinuclear fluorescence intensity, the positive biochemical diagnosis was identified in 23 patients. The t test allowed inferring that not statistically significant differences in relation to age (1->45 years) and gender of patients.


Keywords

Depósito lisosomal, lipoproteínas de baja densidad-LDL, lisis celular, Niemann Pick C, neurodegenerativa, tinción de Filipin, transporte intracelular de lípidos.

PDF (Español)

Author Biography

LIZ CAROLINA PARDO ECHEVERRIA

Localizadad: Usaquen, Distrito Capital.

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