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Background: Guillain–Barre Syndrome (GBS) is considered a complex disorder with significant environmental effect and genetic susceptibility. Genetic polymorphisms in CD1E, CD1A, IL-17, and/or ICAM1 had been proposed as susceptibility genetic variants for GBS mainly in Caucasian population. This study explores the association between selected polymorphisms in these genes and GBS susceptibility in confirmed GBS cases reported in mestizo population from northern Peru during the most recent GBS outbreak of May 2018. Methods: A total of nine nonrelated cases and 11 controls were sequenced for the polymorphic regions of CD1A, CD1E, IL-17, and ICAM1. Results: We found a significant protective association between heterozygous GA genotype in ICAM1 (241Gly/Arg) and GBS (p '.047). IL-17 was monomorphic in both controls and patients. No significant differences were found in the frequency of SNPs ...

Currently, both in Peru and in other countries, we have a wide range of tests available for the identification of individuals infected with COVID-19 disease; however, do we know the advantages and limitations of each of them?

En el Perú, 24 581 personas fueron diagnosticadas con Tuberculosis (TB) en el 2020. Si bien el tratamiento de la TB es efectivo, el 3.4-13% se asocia con reacciones adversas a medicamentos (RAM) significativas, considerándose la lesión hepática inducida por medicamentos (DILI por sus siglas en inglés) como la más predominante en el Perú. Entre los medicamentos antituberculosos de primera línea, la isoniazida (INH) es la principal causa de la aparición de DILI. En el hígado, la INH se metaboliza por las enzimas N-acetiltransferasa-2 (NAT2) y el citocromo P450 2E1 (CYP2E1) y Glutation S transferasa (GST) con dos isoformas GSTT1 y GSTM1. Poco se conoce sobre si las características genéticas del paciente infectado por TB en el Perú podrían estar asociadas a la presencia de reacciones adversas a fármacos. En el presente estudio exploramos con dos preguntas de investigación si ...

Propone un nuevo conjunto de 10 polimorfismos de un solo nucleótido (SNPs) utilizando un total de 249 genomas de Mycobacterium tuberculosis (MTB), que por primera vez se seleccionaron basándose en el principio de inclusión/exclusión (IE) utilizando datos de Spoligotyping y filogenia, seguido de la selección de SNPs no sinónimos presentes en clúster de grupos ortólogos (COG) más conservados de cada genotipo de MTB. La asignación del genotipo utilizando el nuevo conjunto de 10 SNPs fue validado con 34 genomas de MTB adicionales y los resultados mostraron una correlación del 100% con sus genotipos ya conocidos. Nuestro conjunto de 10 SNPs no ha sido reportado previamente y abarca los genotipos de MTB que son más prevalentes en todo el mundo. Este conjunto de SNPs proporciona una resolución superior a las técnicas actuales y podría ser utilizado en epidemiología molecular con...

Identifica los linajes de Mycobacterium tuberculosis (MTB) en la región Callao mediante el uso de la metodología MIRU-VNTR. El estudio comprende 133 muestras de DNA obtenidas a partir de aislamientos de MTB en medio sólido Löwenstein - Jensen (LJ). Utiliza 24 MIRU-VNTR para la genotipificación de MTB. Los resultados reportan un alto poder discriminatorio de este método con un HGDI de 0.995. El linaje LAM es el más prevalente (51.1 %), seguido por Haarlem (18.8 %), el linaje asiático Beijing (8.3 %), el linaje Uganda se identificó en el 6% y los linajes T y S se observaron con un 2.3 % y 0.8 %, respectivamente. Identifica como Orphans (huérfanos) un 8.3 % de las cepas analizadas. La región Callao muestra una gran diversidad de linajes; así como, la presencia de patrones huérfanos endémicos. Esta información permite reconocer los linajes que se encuentran circulando en toda ...

The study of the human genome, when performed only through the DNA sequence information, does not completely explain the high level of inter-individual variation usually observed. It is the control of gene expression by the epigenetics what allows to explain those variations of gene expression, as a reversible and hereditary process in the short term under the influence of the environment during various stages of development and adulthood, without modifying the genetic sequence. Epigenetic alterations are already being studied as valuable candidates in the eventual identification of biomarkers. Furthermore, their reversible nature makes them promising factors in the amelioration of disease symptoms through the use of therapeutic approaches. This article explains the epigenetic mechanisms and its relationship with the environment, diet, and its influence on evolution, the occurrence of di...

The IGRA (Interferon Gamma Release Assays) test is currently the standard specific test for Mycobacterium tuberculosis infection status. However, a positive test cannot distinguish between active tuberculosis disease (ATBD) and latent tuberculosis infection (LTBI). Developing a test with this characteristic is needed. We conducted longitudinal studies to identify a combination of antigen peptides and cytokines to discriminate between ATBD and LTBI. We studied 54 patients with ATBD disease and 51 with LTBI infection. Cell culture supernatant from cells stimulated with overlapping Mycobacterium tuberculosis novel peptides and 40 cytokines/chemokines were analyzed using the Luminex technology. To summarize longitudinal measurements of analyte levels, we calculated the area under the curve (AUC). Our results indicate that in vitro cell stimulation with a novel combination of peptides (Rv0849...

“The IGRA (Interferon Gamma Release Assays) test is currently the standard specific test for Mycobacterium tuberculosis infection status. However, a positive test cannot distinguish between active tuberculosis disease (ATBD) and latent tuberculosis infection (LTBI). Developing a test with this characteristic is needed. We conducted longitudinal studies to identify a combination of antigen peptides and cytokines to discriminate between ATBD and LTBI. We studied 54 patients with ATBD disease and 51 with LTBI infection. Cell culture supernatant from cells stimulated with overlapping Mycobacterium tuberculosis novel peptides and 40 cytokines/chemokines were analyzed using the Luminex technology. To summarize longitudinal measurements of analyte levels, we calculated the area under the curve (AUC). Our results indicate that in vitro cell stimulation with a novel combination of peptides (Rv0...

En Perú se ha estado trabajando en genética y genómica a pesar de la ausencia de inversión nacional. Proveedores multidisciplinarios en el cuidado de la salud han contribuido en el área de la genética en Perú. Se destaca varios ejemplos de logros en áreas clínicas y de investigación. El número de profesionales bien entrenados está aumentando, contribuyendo con colaboraciones nacionales e internacionales, investigación y experiencia clínica, que se incrementa en calidad y extensión. En estos tiempos donde mucha tecnología externa y estandarizada está emergiendo, la colaboración es muy importante para la investigación y se traduce en la implementación de medicina precisa para el sistema de salud pública.

Peruvians currently preserve in their DNA the history of 2.5 million years of human evolution and 150,000 years of migration from Africa to Peru or the Americas. The development of Genetics and Genomics in the clinical and academic field is shown in this review.

Peru is a pluricultural and ethnically diverse country located in middle west of South America. It is the fourth largest country (1,285,216 km2) in area in South America, bordered in the north by Ecuador and Colombia, in the south by Chile, south east by Bolivia, by Brazil in the east and by the Pacific Ocean in the west. Peru has one of the most diverse climates, geographical and ecological in the world, from tropical or subtropical dessert to glacial in highland mountains to Amazon jungle. Peru is divided into 24 geopolitical regions with a central government. According to last national census in 2017, Peruvian populations accounts for 31,237,385 inhabitants (Instituto Nacional de Estadistica e Informatica [INEI], 2017). Most of Peru's population lives in the Coastal area, with almost one third of the nation's population living in Lima, the largest city with approximately 11 million pe...