Ciencias Exactas y Ciencias de la Salud
Permanent URI for this collectionhttps://hdl.handle.net/11285/551039
Pertenecen a esta colección Tesis y Trabajos de grado de las Maestrías correspondientes a las Escuelas de Ingeniería y Ciencias así como a Medicina y Ciencias de la Salud.
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- Analysis of the efficacy of the hexanucleotide repeat expansion of the C9orf72 gene as a diagnostic biomarker for Amyotrophic Lateral Sclerosis in Mexican patients(Instituto Tecnológico y de Estudios Superiores de Monterrey, 2025-06-13) Villalobos Loredo, Manuel Alejandro; Díaz Durán, Raquel Cuevas; emimmayorquin; Martínez Ledesma, Juan Emmanuel; Hernández Pérez, Jesús; School of Engineering and Sciences; Campus MonterreyAmyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disorder with significant genetic underpinnings, including the hexanucleotide repeat expansion (HRE) in the C9orf72 gene, a leading genetic cause of ALS in European populations. Despite its global relevance, the prevalence and diagnostic utility of C9orf72 HREs in Mexican ALS patients remain poorly characterized due to limited research in Latin America. This study aimed to evaluate the efficacy of C9orf72 HREs as a diagnostic biomarker for ALS in Mexican patients, employing repeat-primed PCR (RP-PCR) and capillary electrophoresis (CE) to analyze repeat lengths in 47 sporadic ALS patients and 7 healthy controls. Results revealed distinct repeat distributions, with the most common alleles being 2, 5, and 7 units in both cohorts. Notably, one patient carried a pathogenic expansion (>145 repeats), marking the first detection and successful sizing of C9orf72 HRE for ALS in Mexico. Statistical analyses demonstrated significant differences in allele distributions between patients and controls ( 𝒑<𝟎.𝟎𝟓), supporting the association of HREs with ALS pathogenesis. However, no correlation was found between repeat length and disease severity (𝑹𝟐=𝟎.𝟎𝟎𝟓), suggesting that expansion size may not predict clinical progression. This study successfully established a robust protocol for C9orf72 HRE detection in a Mexican cohort, addressing a critical gap in regional ALS research. The findings highlight the importance of population specific studies to refine diagnostic criteria and improve genetic counseling. While the low frequency of pathogenic expansions in this cohort suggests alternative genetic or environmental factors may dominate ALS etiology in Mexico, the demonstrated feasibility of RP-PCR and capillary electrophoresis paves the way for broader implementation of genetic testing in resource-limited settings. Future studies with larger cohorts are needed to validate these findings and explore their implications for personalized medicine in Latin America.
- Development and testing of Spirometer with pulmonary rehabilitation for patients of Amyotrophic Lateral Sclerosis(Instituto Tecnológico y de Estudios Superiores de Monterrey, 2024-12-04) Perez Ortiz, Claudia Xochitl; Antelis Ortiz, Javier Mauricio; emimmayorquin; Mendoza Montoya, Omar; School of Engineering and Sciences; Campus Monterrey; Caraza Camacho, RicardoAmyotrophic Lateral Sclerosis is one of the most aggressive neurological diseases affecting the lower and upper motor neurons, it diseases and eventually kills the motor neurons, leaving the patient unable to walk, move, talk, and eventually breathe. For this reason, the main cause of death in ALS is respiratory failure. However ALS patients usually only see specialized health assistants every 2 to 3 months in ALS clinics. Inspiratory Muscle Training (IMT) is a form of resistance workout for the lungs, and it has been found to increase survival in ALS individuals for 12 months. Spirometers, devices that measure lung capacity, could help patients measure their lung state, and adjust therapies accordingly at home. For this reason, an automatic spirometer prototype that can record the state of the lungs, adjust itself, and perform IMT rehabilitation in ALS patients is proposed. Results show that the proposed spirometer prototype could measure FVC and PEF with an average accuracy of 96.98% and 92.6% respectively, and could improve FVC by 13.7%, and FEV1 by 13.6% with inspiratory incentive training.