• JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
 
  Bookmark and Share
 
 
Doctoral Thesis
DOI
https://doi.org/10.11606/T.17.2023.tde-30062023-090823
Document
Author
Full name
Pablo Vinícius Silveira Feitoza
Institute/School/College
Knowledge Area
Date of Defense
Published
Ribeirão Preto, 2022
Supervisor
Committee
Júnior, Wilson Marques (President)
Sobreira, Claudia Ferreira da Rosa
Nascimento, Osvaldo José Moreira do
Santos, Diogo Fernandes dos
Title in Portuguese
Caracterização clínica e eletroneuromiográfica em população amazônica com neuropatia hansênica e a associação com variantes de suscetibilidade genética nos genes NCKIPSD e CARD9
Keywords in Portuguese
Eletroneuromiografia
Genes NCKIPSD e CARD9
Neuropatia hansênica
Abstract in Portuguese
Introdução: A hanseníase é uma doença granulomatosa crônica causada pelo Mycobacterium leprae (M. leprae) que afeta principalmente a pele e os nervos periféricos. O M. leprae apresenta tropismo pelo nervo periférico gerando um processo inflamatório que culmina na neuropatia hansênica que é a principal causa de morbidade e responsável pela maioria das deficiências e deformidades exibidas por muitos pacientes. Objetivos: Caracterização clínica e neurofisiológica de uma população amazônica com neuropatia hansênica, assim como investigar a presença de polimorfismos associados a aumento da suscetibilidade à infecção pelo M. leprae nos genes NCKIPSD e CARD9. Pacientes e métodos: Estudo observacional, bicêntrico, transversal de pacientes com neuropatia hansênica com caracterização clínica, eletroneuromiográfica e genotípica através dos genes NCKIPSD e CARD9. Resultados: Foram avaliados 33 pacientes com diagnóstico de hanseníase e evidência de neuropatia periférica. Considerando a distribuição epidemiológica 18 pacientes eram do sexo masculino e a idade média foi de 41.6 anos, sendo que dois tinham menos de 18 anos. Houve predomínio dos sintomas sensitivos, notadamente os negativos (84.8%). No âmbito neurofisiológico, predomínio da neuropatia sensitiva e motora com componentes mielínicos expressos por alentecimento da velocidade de condução e dispersão temporal anormal. Os nervos mais acometidos foram os nervos sensitivos: mediano, ulnar e fibular superficial, notadamente. O protocolo eletroneuromiográfico de avaliação motora de segmento distal se mostrou sensível (97.0%), sendo que em três pacientes somente através do referido método confirmou-se a neuropatia periférica e, por conseguinte, a hanseníase. As formas de hanseníase virchowiana e dimorfa virchowiana apresentaram maior tempo entre o início dos sintomas até o diagnóstico (p<000.1) e maior grau de incapacidade funcional (p=0.03) quando comparadas as demais formas de hanseníase. Conclusão: A neuropatia da hanseníase se expressa predominantemente como uma neuropatia sensitiva e motora com alentecimento focal da velocidade de condução no âmbito neurofisiológico. A assimetria nos ramos interdigitais no nervo mediano são importantes marcadores de assimetria na neuropatia hansênica. As formas de hanseníase virchowiana e dimorfa virchowiana apresentaram maior tempo entre o início dos sintomas até o diagnóstico e maior grau de incapacidade funcional.
Title in English
Clinical and electroneuromyographic characterization in an Amazonian population with leprosy neuropathy and the association with genetic susceptibility variants in the NCKIPSD and CARD9 genes
Keywords in English
Electroneuromyography
Leprosy neuropathy
NCKIPSD and CARD9 genes
Abstract in English
Introduction: Leprosy is a chronic granulomatous disease caused by Mycobacterium leprae (M. leprae) that mainly affects the skin and peripheral nerves. M. leprae presents tropism for the peripheral nerve, generating an inflammatory process that culminates in leprosy neuropathy, the leading cause of morbidity and responsible for most deficiencies and deformities exhibited by many patients. Objectives: Clinical and neurophysiological characterization of an Amazonian population with leprosy neuropathy, as well as to investigate the presence of polymorphisms associated with increased susceptibility to M. leprae infection in the NCKIPSD and CARD9 genes. Patients and methods: Observational, bicentric, cross-sectional study of patients with leprosy neuropathy with clinical, electroneuromyographic, and genotypic characterization through the NCKIPSD and CARD9 genes. Results: Thirty-three patients diagnosed with leprosy and evidence of peripheral neuropathy were evaluated. Considering the epidemiological distribution, 18 patients were male, and the average age was 41.6 years, with two younger than 18. Sensory symptoms were predominant, notably the negative ones (84.8%). In the neurophysiological scope, predominance of sensory and motor neuropathy with myelin components expressed by slowing of conduction velocity and abnormal temporal dispersion. The most affected were the sensitive nerves: median, ulnar, and superficial peroneal. The electroneuromyographic protocol for the motor evaluation of the distal segment was sensitive (97.0%), and in three patients, only through this method peripheral neuropathy and, consequently, leprosy were confirmed. The forms of lepromatous leprosy and borderline leprosy presented a more extended time between the onset of symptoms and diagnosis (p<000.1) and a greater degree of functional disability (p=0.03) when compared to the other forms of leprosy. Conclusion: Leprosy neuropathy is predominantly expressed as a sensory and motor neuropathy with focal slowing of conduction velocity in the neurophysiological context. Asymmetry in the median nerve's interdigital branches is an important marker of asymmetry in leprosy neuropathy. The forms of lepromatous leprosy and borderline lepromatous leprosy showed a more extended time between the onset of symptoms and diagnosis and a greater degree of functional disability.
 
WARNING - Viewing this document is conditioned on your acceptance of the following terms of use:
This document is only for private use for research and teaching activities. Reproduction for commercial use is forbidden. This rights cover the whole data about this document as well as its contents. Any uses or copies of this document in whole or in part must include the author's name.
Tese.pdf (2.61 Mbytes)
Publishing Date
2023-07-04
 
WARNING: Learn what derived works are clicking here.
All rights of the thesis/dissertation are from the authors
CeTI-SC/STI
Digital Library of Theses and Dissertations of USP. Copyright © 2001-2024. All rights reserved.