Mónica Sierra-Martinez - Academia.edu (original) (raw)
Papers by Mónica Sierra-Martinez
![Research paper thumbnail of [Molecular analysis of the CAG repeat among patients with Type-2 spinocerebellar ataxia in the Mexican population]](https://attachments.academia-assets.com/115688714/thumbnails/1.jpg)
](PubMed, Dec 3, 2008
Background: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet loca... more Background: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. Methods: We determined by PCR and capillary electrophoresis the number of ataxin2 gene CAG repeats in 66 individuals belonging to 3 families, clinically diagnosed with SCA2, and 400 subjects from a sample of the mestizo Mexican population. Results: The CAG repeat expansion was found in 11 symptomatic subjects and four asymptomatic individuals, confirming the SCA2 clinical diagnosis in two out of the three families studied. We noted that patients with longer CAG repeat numbers have an early disease onset, a phenomenon known as anticipation. Wild-type alleles showed a CAG repeat range between 13 and 30, and the allele carrying 22 CAG repeats was the most common among our sample. Mutant alleles also displayed a range between 36 and 54 CAG repeats. Conclusions: The identification of the CAG repeat expansion facilitates an accurate SCA2 diagnosis.
Revista del Hospital Juárez de México, 2014
In acute lymphoblastic leukemia (ALL), various types of chromosomal alterations with prognostic v... more In acute lymphoblastic leukemia (ALL), various types of chromosomal alterations with prognostic value are reported well known, these changes allow us to evaluate the response to treatment and survival. Cytogenomics currently allows to know the behavior of leukemias using high-density microarrays, as it has been observed that higher detection. With microarrays can detect losses that are closely related genes as clinically; CDKN2A/B, ETV6, PAX5 and IKZF1, which are associated with the expression and regulation of genes that contribute to neoplastic transformation in hematopoiesis and are located in cells of type B. With these technological advances in microarray platforms, we have allowed more knowledge to understand the processes of leukemogenesis, for therapeutic targets, and deliver personalized medicine. But we still need to understand mechanisms that allow us to identify why there are differences in the origin and frequency of chromosome abnormalities among children and adults.
PubMed, Jan 29, 2013
Background: Mammals have limited epithelial regeneration capacity. The K6b-E6/E7 mice model has b... more Background: Mammals have limited epithelial regeneration capacity. The K6b-E6/E7 mice model has been described as useful for the study of epithelial regeneration. The objective of this study is to compare the expression of E6/E7 oncogenes with those of cell proliferation and apoptosis during epithelization. The hypothesis of this study is that alterations in cell proliferation and apoptosis in K6b-E6/E7 mice will only occur during epithelization. Methods: Deep 2 mm punches were performed in the middle of transgenic and control mice's ears. A biopsy was collected from the epithelization zone 72 hours and 2 weeks post-injury. Assays for cell proliferation and apoptosis were carried out by immunohistochemistry and TUNEL techniques, respectively. RT-PCR in situ was performed to compare E6/E7 expressions in the areas studied. Results: Transgenic strain K6b-E6/E7 presented more proliferative cells and less apoptotic cells in epithelizated zones. This effect was limited to suprabasal stratum only, and correlates with E6/E7 oncogenes expression. Two weeks post-injury, cell proliferation and apoptosis were similar in both samples as the E6/E7 expression went down. Conclusion: K6b-E6/E7 mouse model is useful for epithelial regeneration. Its mechanisms should be considered for the treatment of deep wounds.
Revista del Hospital Juárez de México, 2012
INTRODUCCIÓN La diabetes mellitus tipo 2 (DM2) es una enfermedad crónica, multifactorial y de pre... more INTRODUCCIÓN La diabetes mellitus tipo 2 (DM2) es una enfermedad crónica, multifactorial y de prevalencia creciente. Su prevalencia mundial en el año de 1996 fue de 120 millones de personas, y se estima que para el año 2030 esta cifra se incremente a 366 millones de personas como consecuencia del aumento en la expectativa de vida, la obesidad, el síndrome metabólico y una vida sedentaria. 1 El aumento en la población diabética se espera que sea de 40% en los países desarrollados, y de hasta 70% en los países en vías de desarrollo. Actualmente, México cuenta con 3.8 millo-Artículo original
Revista del Hospital Juárez de México, 2012
INTRODUCCIÓN Los estrógenos juegan un papel esencial en el desarrollo y progresión del cáncer de ... more INTRODUCCIÓN Los estrógenos juegan un papel esencial en el desarrollo y progresión del cáncer de mama. Estas hormonas requieren de la participación de diversas enzimas para ejercer sus efectos biológicos. Dentro de las enzimas involucradas en la disponibilidad de hormonas sexuales femeninas se encuentra el receptor para estrógenos alfa (ERa, por sus siglas Artículo original
Revista del Hospital Juárez de México, 2012
INTRODUCCIÓN Helicobacter pylori es una bacteria Gram negativa, microareofílica, de forma espiral... more INTRODUCCIÓN Helicobacter pylori es una bacteria Gram negativa, microareofílica, de forma espiral que infecta la mucosa gástrica de 50% de la población mundial, en los países en vías de desarrollo la tasa de infección puede ser de hasta 90%. 1 La infección con H. pylori usualmente ocurre durante la niñez, y un individuo infectado típicamente permanece infectado a través de su vida. 2 Mientras que la infección es principalmente asintomática, la enfermedad en individuos sintomáticos varía desde las formas leves (gastritis), moderadas (úlcera péptica) hasta más severas Artículo original
Pathogens, Feb 2, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Revista del Hospital Juárez de México, Oct 9, 2018
El concepto de error innato del metabolismo (EIM) fue establecido por Garrod a principios del sig... more El concepto de error innato del metabolismo (EIM) fue establecido por Garrod a principios del siglo XX al describir la cistinuria, la alcaptonuria, la pentosuria y el albinismo. El conocimiento ha ido avanzando y hasta el día de hoy se han detectado más de 700 trastornos. Se definen como un grupo de enfermedades causadas por una mutación genética que tiene como efecto la producción de una proteína anómala que conlleva la alteración del funcionamiento fisiológico de la célula: según sea la función alterada, los efectos fisiopatológicos del acúmulo de sustancias no metabolizadas dependen del grado de acumulación y de su posible toxicidad. La utilización de vías metabólicas inusuales o alternativas puede producir nuevas sustancias potencialmente tóxicas y las consecuencias derivadas de la deficiencia de determinados compuestos dependen del grado de su esencialidad. Las manifestaciones clínicas derivadas de este defecto son muy variadas y aparecen fundamentalmente en las etapas precoces de la vida, aunque también pueden manifestarse en épocas más tardías. En esta revisión se abordará la manera en que podemos sospechar de un EIM con una breve descripción de las más frecuentes y de ser posible, su manejo.
Applied Microbiology and Biotechnology, Nov 7, 2022
The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), ha... more The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has been one of the most catastrophic diseases observed in recent years. It has reported nearly 550 million cases worldwide, with more than 6.35 million deaths. In Mexico, an increased incidence and mortality of this disease were observed, where the immune response has been involved in the magnitude and severity. A critical version of the disease is accompanied by hyperinflammatory responses, with cytokine and defective cellular responses. A detailed understanding of the role of molecules and cells in the immune response during COVID-19 disease may help to generate effective protection mechanisms, improving those we already have. Here we analyzed blood samples obtained from patients at the Hospital Regional de Alta Especialidad de Ixtapaluca (HRAEI), Mexico, which were classified according to living guidance for clinical management of COVID-19 by the World Health Organization: asymptomatic, mild, severe, and critical disease. We observed increased interleukin (IL)-6 levels and a T-CD8 + and T-CD4 + cell reduction correlated with the critical disease version. Importantly, here, we described a significant reduction of CD11b + CD45 high CD14 low monocytes during severe disease, which displayed a non-classical profile, expressing IL-10, transforming growth factor (TGF)-β, and indoleamine 2,3-dioxygenase (IDO)1 molecule. Moreover, CD11b + CD45 high CD14 low monocytes obtained from infected one-dose vaccinated patients (Pfizer® vaccine) who suffered minimal symptoms showed simultaneously a dual classical and no-classical profile expressing pro-and anti-inflammatory cytokines. These results suggest that blood monocytes expressing a dual pro-and anti-inflammatory profile might be a predictive marker for protection in the Mexican population during COVID-19 disease. Key points • Exacerbated immune response is associated with COVID-19 severe disease. • Dual monocyte activation profile is crucial for predicting protection during COVID-19. • Vaccination is crucial to induce the dual activation profile in monocytes.
Nutrients
Gestational diabetes (GD), pre-gestational diabetes (PD), and pre-eclampsia (PE) are morbidities ... more Gestational diabetes (GD), pre-gestational diabetes (PD), and pre-eclampsia (PE) are morbidities affecting gestational health which have been associated with dysbiosis of the mother’s gut microbiota. This study aimed to assess the extent of change in the gut microbiota diversity, short-chain fatty acids (SCFA) production, and fecal metabolites profile in a sample of Mexican women affected by these disorders. Fecal samples were collected from women with GD, PD, or PE in the third trimester of pregnancy, along with clinical and biochemical data. Gut microbiota was characterized by high-throughput DNA sequencing of V3-16S rRNA gene libraries; SCFA and metabolites were measured by High-Pressure Liquid Chromatography (HPLC) and (Fourier Transform Ion Cyclotron Mass Spectrometry (FT-ICR MS), respectively, in extracts prepared from feces. Although the results for fecal microbiota did not show statistically significant differences in alfa diversity for GD, PD, and PE concerning controls, th...
Diagnostics
The COVID-19 pandemic has been a main concern over the last two years and has become one of the m... more The COVID-19 pandemic has been a main concern over the last two years and has become one of the most important crises in the history of human health. Today, there is still a need for affordable and reliable diagnostic tests for massive disease monitoring. Previously, a set of highly specific DNA-aptamers (C7/C9) binding to the SARS-CoV-2 Spike (S) protein were isolated but its performance in clinical samples remained to be tested. Here, 242 samples were collected through three different methods and subjected to florescence-linked aptamer assays (FLAA) based on C7/C9 aptamers through two readout protocols. Then, a step-by-step statistical approach which included agreement tests, proportion comparisons and binomial and multinomial logistic regressions was used to predict optimal conditions for the novel C7/C9 FLAA test. RTqPCR threshold cycles, symptoms onset and processing time were influential factors on FLAA test results. Naturally occurring mutations on S were also detected and an...
Revista del Hospital Juárez de México, Oct 1, 2017
Perfil epidemiológico y algunas determinantes sociales de mujeres mexicanas con lesiones intraepi... more Perfil epidemiológico y algunas determinantes sociales de mujeres mexicanas con lesiones intraepiteliales
Revista del Hospital Juárez de México, Nov 15, 2016
Chávez-Ocaña S y cols. Células tumorales circulantes.
Gaceta Mexicana de Oncolog�a, 2020
Introduction: ORM1 gene located on the long arm of chromosome 9 encodes for alpha-1-acid glycopro... more Introduction: ORM1 gene located on the long arm of chromosome 9 encodes for alpha-1-acid glycoprotein (AGP1), the gene contains two single nucleotide variants located in exon 1 and exon 5, which are implicated in immunosuppressive activities of AGP1, affecting the progress and clinical course of diseases such as cancer. Due to the foregoing, the objective of this study was to determine the genotypic and allelic frequency of variants c.113G>A of exon 1 and c.520G>A of exon 5 of the ORM1 gene, to evaluate their association with breast cancer (BC). Materials and methods: A case-control study was conducted, 101 patients diagnosed with adenocarcinoma of mammary gland and 104 healthy women were included. Of each participant DNA was obtained for the genotyping of 2 variants of the gene ORM1 and assesses its clinical correlation. Results: The analysis of the genotypic and allelic frequencies of the variant c.520G>A of exon 5 showed that patients with BC had a higher frequency of the GG genotype compared to controls (99% vs. 89.42%; respectively). While the phenotype-genotype correlation of exon 1 showed that patients with BC and GG genotype had a higher age at the time of their last calving date, compared to genotype AA and AG patients (36.44 ± 0.83 vs. 32.35 ± 0.98 and 31.44 ± 0.83, respectively), both results was statistically significant (P < 0.05). Conclusions: The polymorphisms of the gene ORM1 and its protein could intervene in BC affecting the clinical course and progression of the disease.
DNA Methylation Mechanism, 2020
Chromatin in cancer undergoes chemical and structural changes that alter gene expression patterns... more Chromatin in cancer undergoes chemical and structural changes that alter gene expression patterns. One of the chemical modifications that impacts gene regulation is 5-hydroxymethylcytosine (5hmC), also called DNA hydroxymethylation. 5hmC is a stable mark that is commonly associated with transcriptional activation. In cancer, the global loss of 5hmC is a hallmark. In addition, the deregulation of 5hmC in specific regions of the genome, such as enhancers, promoters, and body of the gene, alters the expression of genes in cancer. These alterations have been detected by the improvement in the mapping of 5hmC at genomic scale, which has allowed us to evaluate the sites where 5hmC alterations occur and the genes that are affected. In this chapter, the recent knowledge about the status of 5hmC in genome specific sites of human solid cancers, the relationship with enzymes ten-eleven translocation (TET) and isocitrate dehydrogenase (IDH) involved in the dynamic regulation of 5hmC levels, and the impact of the 5hmC aberrant changes on the genic expression in these malignances is reviewed.
Revista de investigaci�n Cl�nica, 2020
Background: Previous studies have shown an association between polymorphisms of the BAT1-NF-κB in... more Background: Previous studies have shown an association between polymorphisms of the BAT1-NF-κB inhibitor-like-1 (NFKBIL1)-LTA genomic region and susceptibility to myocardial infarction and acute coronary syndrome (ACS). Objective: The objective of the study was to study the role of three polymorphisms in the BAT1, NFKBIL1, and LTA genes on the susceptibility or protection against ACS; we included a group of cases-controls from Central Mexico. Methods: The BAT1 rs2239527C/G, NFKBIL1 rs2071592T/A, and LTA rs1800683G/A polymorphisms were genotyped using a 5' TaqMan assay in a group of 625 patients with ACS and 617 healthy controls. Results: Under a recessive model, the BAT1-23C/G (rs2239527) polymorphism showed an association with protection against ACS (odds ratio = 0.56, and p-corrected = 0.019). In contrast, the genotype and allele frequencies of the NFKBIL1 rs2071592T/A and LTA rs1800683G/A polymorphisms were similar between ACS patients and controls and no association was identified. Conclusion: Our data suggest an association between the BAT1-23C/G polymorphism and protection against ACS in Mexican patients.
BMC Musculoskeletal Disorders, 2016
Background: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component o... more Background: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. Case presentation: Two siblings presented with isolated skeletal manifestations of MFS, including severe pectus excavatum, elongated face, scoliosis in one case, and absence of other clinical features according to Ghent criteria diagnosis, were screened for detection of variants in whole FBN1 gene (65 exons). Both individuals were heterozygous for the R2726W variant. This variant has been previously reported in association with some skeletal features of Marfan syndrome in the absence of both tall stature and non-skeletal features. These features are consistent with the presentation of the siblings reported here. Conclusion: The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings. These findings confirm that FBN1 variants are associated with a broad phenotypic spectrum and the value of sequencing in atypical cases.
Revista del Hospital Juárez de México, 2011
Material y métodos. Se realizó un estudio citogenético a 35 pacientes con diagnóstico de leucemia... more Material y métodos. Se realizó un estudio citogenético a 35 pacientes con diagnóstico de leucemia mieloide aguda (LMA) de novo atendidos en el Servicio de Hematología del Hospital Juárez de México entre 2007 y 2010. Resultados. El 29% tenía cariotipo normal y 71%, clonas anormales; de éstos, 80% era de tipo estructural y 20%, numérico. El 48% de los casos presentó alteraciones adicionales, tanto numéricas como estructurales; la correlación del estudio citogenético con los datos hematológicos reveló que la cuenta de leucocitos se incrementó significativamente en aquellos pacientes con cariotipo anormal, pero no en la hb y Pt. No se pudo establecer el pronóstico según los hallazgos citogenéticos, debido a que los pacientes llegan en etapas terminales de la enfermedad y además abandonan el tratamiento en la fase de inducción a la remisión.
Copyright © 2014 Mario Adan Moreno-Eutimio et al. This is an open access article distributed unde... more Copyright © 2014 Mario Adan Moreno-Eutimio et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Regulatory T cells (Tregs; CD4+CD25 highFoxp3+) are critical in maintaining immune tolerance during pregnancy and uterine vascularization. In this study, we show that, in Mexican women with different preeclamptic severity levels, the number of Tregs and the subset of CD4+CD25highFoxp3+ are decreased compared with those of normotensive pregnant women (NP). Moreover, a systemic inflammatory state is a pivotal feature in the pathogenesis of this disorder and could be related to hypertension and endothelial dysfunction. Likewise, we observed elevated levels of IL-6, TNF-
PubMed, Dec 3, 2008
Background: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet loca... more Background: Spinocerebellar ataxia type 2 (SCA2) results from the expansion of a CAG triplet located within the coding sequence of the ataxin-2 gene, which ultimately provokes the incorporation of a stretch of polyglutamines in the mutant protein. Methods: We determined by PCR and capillary electrophoresis the number of ataxin2 gene CAG repeats in 66 individuals belonging to 3 families, clinically diagnosed with SCA2, and 400 subjects from a sample of the mestizo Mexican population. Results: The CAG repeat expansion was found in 11 symptomatic subjects and four asymptomatic individuals, confirming the SCA2 clinical diagnosis in two out of the three families studied. We noted that patients with longer CAG repeat numbers have an early disease onset, a phenomenon known as anticipation. Wild-type alleles showed a CAG repeat range between 13 and 30, and the allele carrying 22 CAG repeats was the most common among our sample. Mutant alleles also displayed a range between 36 and 54 CAG repeats. Conclusions: The identification of the CAG repeat expansion facilitates an accurate SCA2 diagnosis.
Revista del Hospital Juárez de México, 2014
In acute lymphoblastic leukemia (ALL), various types of chromosomal alterations with prognostic v... more In acute lymphoblastic leukemia (ALL), various types of chromosomal alterations with prognostic value are reported well known, these changes allow us to evaluate the response to treatment and survival. Cytogenomics currently allows to know the behavior of leukemias using high-density microarrays, as it has been observed that higher detection. With microarrays can detect losses that are closely related genes as clinically; CDKN2A/B, ETV6, PAX5 and IKZF1, which are associated with the expression and regulation of genes that contribute to neoplastic transformation in hematopoiesis and are located in cells of type B. With these technological advances in microarray platforms, we have allowed more knowledge to understand the processes of leukemogenesis, for therapeutic targets, and deliver personalized medicine. But we still need to understand mechanisms that allow us to identify why there are differences in the origin and frequency of chromosome abnormalities among children and adults.
PubMed, Jan 29, 2013
Background: Mammals have limited epithelial regeneration capacity. The K6b-E6/E7 mice model has b... more Background: Mammals have limited epithelial regeneration capacity. The K6b-E6/E7 mice model has been described as useful for the study of epithelial regeneration. The objective of this study is to compare the expression of E6/E7 oncogenes with those of cell proliferation and apoptosis during epithelization. The hypothesis of this study is that alterations in cell proliferation and apoptosis in K6b-E6/E7 mice will only occur during epithelization. Methods: Deep 2 mm punches were performed in the middle of transgenic and control mice's ears. A biopsy was collected from the epithelization zone 72 hours and 2 weeks post-injury. Assays for cell proliferation and apoptosis were carried out by immunohistochemistry and TUNEL techniques, respectively. RT-PCR in situ was performed to compare E6/E7 expressions in the areas studied. Results: Transgenic strain K6b-E6/E7 presented more proliferative cells and less apoptotic cells in epithelizated zones. This effect was limited to suprabasal stratum only, and correlates with E6/E7 oncogenes expression. Two weeks post-injury, cell proliferation and apoptosis were similar in both samples as the E6/E7 expression went down. Conclusion: K6b-E6/E7 mouse model is useful for epithelial regeneration. Its mechanisms should be considered for the treatment of deep wounds.
Revista del Hospital Juárez de México, 2012
INTRODUCCIÓN La diabetes mellitus tipo 2 (DM2) es una enfermedad crónica, multifactorial y de pre... more INTRODUCCIÓN La diabetes mellitus tipo 2 (DM2) es una enfermedad crónica, multifactorial y de prevalencia creciente. Su prevalencia mundial en el año de 1996 fue de 120 millones de personas, y se estima que para el año 2030 esta cifra se incremente a 366 millones de personas como consecuencia del aumento en la expectativa de vida, la obesidad, el síndrome metabólico y una vida sedentaria. 1 El aumento en la población diabética se espera que sea de 40% en los países desarrollados, y de hasta 70% en los países en vías de desarrollo. Actualmente, México cuenta con 3.8 millo-Artículo original
Revista del Hospital Juárez de México, 2012
INTRODUCCIÓN Los estrógenos juegan un papel esencial en el desarrollo y progresión del cáncer de ... more INTRODUCCIÓN Los estrógenos juegan un papel esencial en el desarrollo y progresión del cáncer de mama. Estas hormonas requieren de la participación de diversas enzimas para ejercer sus efectos biológicos. Dentro de las enzimas involucradas en la disponibilidad de hormonas sexuales femeninas se encuentra el receptor para estrógenos alfa (ERa, por sus siglas Artículo original
Revista del Hospital Juárez de México, 2012
INTRODUCCIÓN Helicobacter pylori es una bacteria Gram negativa, microareofílica, de forma espiral... more INTRODUCCIÓN Helicobacter pylori es una bacteria Gram negativa, microareofílica, de forma espiral que infecta la mucosa gástrica de 50% de la población mundial, en los países en vías de desarrollo la tasa de infección puede ser de hasta 90%. 1 La infección con H. pylori usualmente ocurre durante la niñez, y un individuo infectado típicamente permanece infectado a través de su vida. 2 Mientras que la infección es principalmente asintomática, la enfermedad en individuos sintomáticos varía desde las formas leves (gastritis), moderadas (úlcera péptica) hasta más severas Artículo original
Pathogens, Feb 2, 2023
This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY
Revista del Hospital Juárez de México, Oct 9, 2018
El concepto de error innato del metabolismo (EIM) fue establecido por Garrod a principios del sig... more El concepto de error innato del metabolismo (EIM) fue establecido por Garrod a principios del siglo XX al describir la cistinuria, la alcaptonuria, la pentosuria y el albinismo. El conocimiento ha ido avanzando y hasta el día de hoy se han detectado más de 700 trastornos. Se definen como un grupo de enfermedades causadas por una mutación genética que tiene como efecto la producción de una proteína anómala que conlleva la alteración del funcionamiento fisiológico de la célula: según sea la función alterada, los efectos fisiopatológicos del acúmulo de sustancias no metabolizadas dependen del grado de acumulación y de su posible toxicidad. La utilización de vías metabólicas inusuales o alternativas puede producir nuevas sustancias potencialmente tóxicas y las consecuencias derivadas de la deficiencia de determinados compuestos dependen del grado de su esencialidad. Las manifestaciones clínicas derivadas de este defecto son muy variadas y aparecen fundamentalmente en las etapas precoces de la vida, aunque también pueden manifestarse en épocas más tardías. En esta revisión se abordará la manera en que podemos sospechar de un EIM con una breve descripción de las más frecuentes y de ser posible, su manejo.
Applied Microbiology and Biotechnology, Nov 7, 2022
The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), ha... more The COVID-19 pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has been one of the most catastrophic diseases observed in recent years. It has reported nearly 550 million cases worldwide, with more than 6.35 million deaths. In Mexico, an increased incidence and mortality of this disease were observed, where the immune response has been involved in the magnitude and severity. A critical version of the disease is accompanied by hyperinflammatory responses, with cytokine and defective cellular responses. A detailed understanding of the role of molecules and cells in the immune response during COVID-19 disease may help to generate effective protection mechanisms, improving those we already have. Here we analyzed blood samples obtained from patients at the Hospital Regional de Alta Especialidad de Ixtapaluca (HRAEI), Mexico, which were classified according to living guidance for clinical management of COVID-19 by the World Health Organization: asymptomatic, mild, severe, and critical disease. We observed increased interleukin (IL)-6 levels and a T-CD8 + and T-CD4 + cell reduction correlated with the critical disease version. Importantly, here, we described a significant reduction of CD11b + CD45 high CD14 low monocytes during severe disease, which displayed a non-classical profile, expressing IL-10, transforming growth factor (TGF)-β, and indoleamine 2,3-dioxygenase (IDO)1 molecule. Moreover, CD11b + CD45 high CD14 low monocytes obtained from infected one-dose vaccinated patients (Pfizer® vaccine) who suffered minimal symptoms showed simultaneously a dual classical and no-classical profile expressing pro-and anti-inflammatory cytokines. These results suggest that blood monocytes expressing a dual pro-and anti-inflammatory profile might be a predictive marker for protection in the Mexican population during COVID-19 disease. Key points • Exacerbated immune response is associated with COVID-19 severe disease. • Dual monocyte activation profile is crucial for predicting protection during COVID-19. • Vaccination is crucial to induce the dual activation profile in monocytes.
Nutrients
Gestational diabetes (GD), pre-gestational diabetes (PD), and pre-eclampsia (PE) are morbidities ... more Gestational diabetes (GD), pre-gestational diabetes (PD), and pre-eclampsia (PE) are morbidities affecting gestational health which have been associated with dysbiosis of the mother’s gut microbiota. This study aimed to assess the extent of change in the gut microbiota diversity, short-chain fatty acids (SCFA) production, and fecal metabolites profile in a sample of Mexican women affected by these disorders. Fecal samples were collected from women with GD, PD, or PE in the third trimester of pregnancy, along with clinical and biochemical data. Gut microbiota was characterized by high-throughput DNA sequencing of V3-16S rRNA gene libraries; SCFA and metabolites were measured by High-Pressure Liquid Chromatography (HPLC) and (Fourier Transform Ion Cyclotron Mass Spectrometry (FT-ICR MS), respectively, in extracts prepared from feces. Although the results for fecal microbiota did not show statistically significant differences in alfa diversity for GD, PD, and PE concerning controls, th...
Diagnostics
The COVID-19 pandemic has been a main concern over the last two years and has become one of the m... more The COVID-19 pandemic has been a main concern over the last two years and has become one of the most important crises in the history of human health. Today, there is still a need for affordable and reliable diagnostic tests for massive disease monitoring. Previously, a set of highly specific DNA-aptamers (C7/C9) binding to the SARS-CoV-2 Spike (S) protein were isolated but its performance in clinical samples remained to be tested. Here, 242 samples were collected through three different methods and subjected to florescence-linked aptamer assays (FLAA) based on C7/C9 aptamers through two readout protocols. Then, a step-by-step statistical approach which included agreement tests, proportion comparisons and binomial and multinomial logistic regressions was used to predict optimal conditions for the novel C7/C9 FLAA test. RTqPCR threshold cycles, symptoms onset and processing time were influential factors on FLAA test results. Naturally occurring mutations on S were also detected and an...
Revista del Hospital Juárez de México, Oct 1, 2017
Perfil epidemiológico y algunas determinantes sociales de mujeres mexicanas con lesiones intraepi... more Perfil epidemiológico y algunas determinantes sociales de mujeres mexicanas con lesiones intraepiteliales
Revista del Hospital Juárez de México, Nov 15, 2016
Chávez-Ocaña S y cols. Células tumorales circulantes.
Gaceta Mexicana de Oncolog�a, 2020
Introduction: ORM1 gene located on the long arm of chromosome 9 encodes for alpha-1-acid glycopro... more Introduction: ORM1 gene located on the long arm of chromosome 9 encodes for alpha-1-acid glycoprotein (AGP1), the gene contains two single nucleotide variants located in exon 1 and exon 5, which are implicated in immunosuppressive activities of AGP1, affecting the progress and clinical course of diseases such as cancer. Due to the foregoing, the objective of this study was to determine the genotypic and allelic frequency of variants c.113G>A of exon 1 and c.520G>A of exon 5 of the ORM1 gene, to evaluate their association with breast cancer (BC). Materials and methods: A case-control study was conducted, 101 patients diagnosed with adenocarcinoma of mammary gland and 104 healthy women were included. Of each participant DNA was obtained for the genotyping of 2 variants of the gene ORM1 and assesses its clinical correlation. Results: The analysis of the genotypic and allelic frequencies of the variant c.520G>A of exon 5 showed that patients with BC had a higher frequency of the GG genotype compared to controls (99% vs. 89.42%; respectively). While the phenotype-genotype correlation of exon 1 showed that patients with BC and GG genotype had a higher age at the time of their last calving date, compared to genotype AA and AG patients (36.44 ± 0.83 vs. 32.35 ± 0.98 and 31.44 ± 0.83, respectively), both results was statistically significant (P < 0.05). Conclusions: The polymorphisms of the gene ORM1 and its protein could intervene in BC affecting the clinical course and progression of the disease.
DNA Methylation Mechanism, 2020
Chromatin in cancer undergoes chemical and structural changes that alter gene expression patterns... more Chromatin in cancer undergoes chemical and structural changes that alter gene expression patterns. One of the chemical modifications that impacts gene regulation is 5-hydroxymethylcytosine (5hmC), also called DNA hydroxymethylation. 5hmC is a stable mark that is commonly associated with transcriptional activation. In cancer, the global loss of 5hmC is a hallmark. In addition, the deregulation of 5hmC in specific regions of the genome, such as enhancers, promoters, and body of the gene, alters the expression of genes in cancer. These alterations have been detected by the improvement in the mapping of 5hmC at genomic scale, which has allowed us to evaluate the sites where 5hmC alterations occur and the genes that are affected. In this chapter, the recent knowledge about the status of 5hmC in genome specific sites of human solid cancers, the relationship with enzymes ten-eleven translocation (TET) and isocitrate dehydrogenase (IDH) involved in the dynamic regulation of 5hmC levels, and the impact of the 5hmC aberrant changes on the genic expression in these malignances is reviewed.
Revista de investigaci�n Cl�nica, 2020
Background: Previous studies have shown an association between polymorphisms of the BAT1-NF-κB in... more Background: Previous studies have shown an association between polymorphisms of the BAT1-NF-κB inhibitor-like-1 (NFKBIL1)-LTA genomic region and susceptibility to myocardial infarction and acute coronary syndrome (ACS). Objective: The objective of the study was to study the role of three polymorphisms in the BAT1, NFKBIL1, and LTA genes on the susceptibility or protection against ACS; we included a group of cases-controls from Central Mexico. Methods: The BAT1 rs2239527C/G, NFKBIL1 rs2071592T/A, and LTA rs1800683G/A polymorphisms were genotyped using a 5' TaqMan assay in a group of 625 patients with ACS and 617 healthy controls. Results: Under a recessive model, the BAT1-23C/G (rs2239527) polymorphism showed an association with protection against ACS (odds ratio = 0.56, and p-corrected = 0.019). In contrast, the genotype and allele frequencies of the NFKBIL1 rs2071592T/A and LTA rs1800683G/A polymorphisms were similar between ACS patients and controls and no association was identified. Conclusion: Our data suggest an association between the BAT1-23C/G polymorphism and protection against ACS in Mexican patients.
BMC Musculoskeletal Disorders, 2016
Background: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component o... more Background: FBN1 (15q21.1) encodes fibrillin-1, a large glycoprotein which is a major component of microfibrils that are widely distributed in structural elements of elastic and non-elastic tissues. FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. Case presentation: Two siblings presented with isolated skeletal manifestations of MFS, including severe pectus excavatum, elongated face, scoliosis in one case, and absence of other clinical features according to Ghent criteria diagnosis, were screened for detection of variants in whole FBN1 gene (65 exons). Both individuals were heterozygous for the R2726W variant. This variant has been previously reported in association with some skeletal features of Marfan syndrome in the absence of both tall stature and non-skeletal features. These features are consistent with the presentation of the siblings reported here. Conclusion: The presented cases confirm that the R2726W FBN1 variant is associated with skeletal features of MFS in the absence of cardiac or ocular findings. These findings confirm that FBN1 variants are associated with a broad phenotypic spectrum and the value of sequencing in atypical cases.
Revista del Hospital Juárez de México, 2011
Material y métodos. Se realizó un estudio citogenético a 35 pacientes con diagnóstico de leucemia... more Material y métodos. Se realizó un estudio citogenético a 35 pacientes con diagnóstico de leucemia mieloide aguda (LMA) de novo atendidos en el Servicio de Hematología del Hospital Juárez de México entre 2007 y 2010. Resultados. El 29% tenía cariotipo normal y 71%, clonas anormales; de éstos, 80% era de tipo estructural y 20%, numérico. El 48% de los casos presentó alteraciones adicionales, tanto numéricas como estructurales; la correlación del estudio citogenético con los datos hematológicos reveló que la cuenta de leucocitos se incrementó significativamente en aquellos pacientes con cariotipo anormal, pero no en la hb y Pt. No se pudo establecer el pronóstico según los hallazgos citogenéticos, debido a que los pacientes llegan en etapas terminales de la enfermedad y además abandonan el tratamiento en la fase de inducción a la remisión.
Copyright © 2014 Mario Adan Moreno-Eutimio et al. This is an open access article distributed unde... more Copyright © 2014 Mario Adan Moreno-Eutimio et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Regulatory T cells (Tregs; CD4+CD25 highFoxp3+) are critical in maintaining immune tolerance during pregnancy and uterine vascularization. In this study, we show that, in Mexican women with different preeclamptic severity levels, the number of Tregs and the subset of CD4+CD25highFoxp3+ are decreased compared with those of normotensive pregnant women (NP). Moreover, a systemic inflammatory state is a pivotal feature in the pathogenesis of this disorder and could be related to hypertension and endothelial dysfunction. Likewise, we observed elevated levels of IL-6, TNF-