Browsing by Autor "Luis Sotillo"

Now showing 1 - 4 of 4

Genotipos de inhibidores de la proteasa S y Z en el gen SERPINA1 en pacientes con EPOC en la República de Panamá
(2025) Laura De Gracia; Lorena Noriega; Elard Sánchez; Luis Sotillo; Alfonso Paz Samudio; Omar Espinosa
Antecedentes: La Alfa-1-Antitripsina (AAT) es una proteína que inhibe la proteasa, especialmente la tripsina. La deficiencia de AAT puede causar enfermedades pulmonares como enfisema precoz, afectando principalmente a la población anglosajona; en Panamá se consideraba una condición poco frecuente. Este estudio tuvo como objetivo determinar la prevalencia de la Deficiencia de Alfa-1-Antitripsina (AATD) y la frecuencia alélica, en pacientes con EPOC. Métodos: Estudio de intervención transversal, en pacientes con diagnóstico de EPOC en Panamá. Se determinaron los niveles de AAT de todos los pacientes con muestras de sangre, por nefelometría. Aquellos con niveles de AAT <116 mg/dL fueron sometidos a genotipificación con la prueba de PCR en tiempo real (AAT-mpx RealFast), que detecta simultáneamente el inhibidor de proteasa (IP) *M, *S y *Z del gen SERPINA1. Resultados: Se incluyeron 78 pacientes, 55 (70,5%) tenían niveles de AAT <116 mg/dL. La distribución genotípica de los mismos fue la siguiente: PI*MM en 15 (27,3%), PI*MZ en 37 (67,3%), PI*MS en 2 (3,6%) y PI*SS en 1 (1,8%). Conclusiones: Nuestros hallazgos demuestran que la frecuencia de AATD es baja en pacientes con EPOC. Sin embargo, tenemos una alta frecuencia del alelo heterocigoto PI*MZ, que podría ser un factor de riesgo futuro.
Genotipos de inhibidores de la proteasa S y Z en el gen SERPINA1 en pacientes con EPOC en la República de Panamá
(2025) Laura De Gracia; Lorena Noriega; Elard Sánchez; Luis Sotillo; Alfonso Paz Samudio; Omar Espinosa
Antecedentes: La Alfa-1-Antitripsina (AAT) es una proteína que inhibe la proteasa, especialmente la tripsina. La deficiencia de AAT puede causar enfermedades pulmonares como enfisema precoz, afectando principalmente a la población anglosajona; en Panamá se consideraba una condición poco frecuente. Este estudio tuvo como objetivo determinar la prevalencia de la Deficiencia de Alfa-1-Antitripsina (AATD) y la frecuencia alélica, en pacientes con EPOC. Métodos: Estudio de intervención transversal, en pacientes con diagnóstico de EPOC en Panamá. Se determinaron los niveles de AAT de todos los pacientes con muestras de sangre, por nefelometría. Aquellos con niveles de AAT &lt;116 mg/dL fueron sometidos a genotipificación con la prueba de PCR en tiempo real (AAT-mpx RealFast), que detecta simultáneamente el inhibidor de proteasa (IP) *M, *S y *Z del gen SERPINA1. Resultados: Se incluyeron 78 pacientes, 55 (70,5%) tenían niveles de AAT &lt;116 mg/dL. La distribución genotípica de los mismos fue la siguiente: PI*MM en 15 (27,3%), PI*MZ en 37 (67,3%), PI*MS en 2 (3,6%) y PI*SS en 1 (1,8%). Conclusiones: Nuestros hallazgos demuestran que la frecuencia de AATD es baja en pacientes con EPOC. Sin embargo, tenemos una alta frecuencia del alelo heterocigoto PI*MZ, que podría ser un factor de riesgo futuro.
Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama
(2025) Lydier De Gracia; Lorena Noriega; Elodie Sanchez; Luis Sotillo; Aneth Samudio; Omar Ariel Espinosa
Background: Alpha-1-Antitrypsin (AAT) is a protein that inhibits protease, especially Trypsin. AAT deficiency can cause lung diseases such as early emphysema, mainly affecting the Anglo-Saxon population; this was considered to be a rare condition in Panama. This study aimed to determine the prevalence of Alpha-1-Antitrypsin Deficiency (AATD) and allele frequency, in patients with COPD. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients’ AAT levels were determined with blood samples, by nephelometry. Those with AAT levels <116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels <116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients’ AAT levels were determined with blood samples, by nephelometry. Those with AAT levels <116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels <116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor.
Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama
(2025) Laura De Gracia; Lorena Noriega; Elard Sánchez; Luis Sotillo; Alfonso Paz Samudio; Omar Espinosa
Background: Alpha-1-Antitrypsin (AAT) is a protein that inhibits protease, especially Trypsin. AAT deficiency can cause lung diseases such as early emphysema, mainly affecting the Anglo-Saxon population; this was considered to be a rare condition in Panama. This study aimed to determine the prevalence of Alpha-1-Antitrypsin Deficiency (AATD) and allele frequency, in patients with COPD. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients AAT levels were determined with blood samples, by nephelometry. Those with AAT levels &lt;116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels &lt;116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients AAT levels were determined with blood samples, by nephelometry. Those with AAT levels &lt;116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels &lt;116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor.