40 results on '"Vázquez-Cárdenas P"'
Search Results
2. Implication of myddosome complex genetic variants in outcome severity of COVID-19 patients
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Laura E. Martínez-Gómez, Carlos Martinez-Armenta, Daniel Medina-Luna, María Luisa Ordoñez-Sánchez, Tere Tusie-Luna, Silvestre Ortega-Peña, Brígida Herrera-López, Carlos Suarez-Ahedo, Guadalupe Elizabeth Jimenez-Gutierrez, Alberto Hidalgo-Bravo, Paola Vázquez-Cárdenas, Rosa P. Vidal-Vázquez, Juan P. Ramírez-Hinojosa, Pilar Miyoko Martinez Matsumoto, Gilberto Vargas-Alarcón, Rosalinda Posadas-Sánchez, José-Manuel Fragoso, Felipe de J. Martínez-Ruiz, Dulce M. Zayago-Angeles, Mónica Maribel Mata-Miranda, Gustavo Jesús Vázquez-Zapién, Adriana Martínez-Cuazitl, Javier Andrade-Alvarado, Julio Granados, Luis Ramos-Tavera, María del Carmen Camacho-Rea, Yayoi Segura-Kato, José Manuel Rodríguez-Pérez, Roberto Coronado-Zarco, Rafael Franco-Cendejas, Luis Esau López-Jácome, Jonathan J. Magaña, Marcela Vela-Amieva, Carlos Pineda, Gabriela Angélica Martínez-Nava, and Alberto López-Reyes
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COVID-19 ,MyD88 ,Polymorphism ,SARS-CoV-2 and TLR7 ,Microbiology ,QR1-502 - Abstract
Background/purpose(s): During a viral infection, the immune response is mediated by the toll-like receptors and myeloid differentiation Factor 88 (MyD88) that play an important role sensing infections such as SARS-CoV-2 which has claimed the lives of more than 6.8 million people around the world. Methods: We carried out a cross-sectional with a population of 618 SARS-CoV-2-positive unvaccinated subjects and further classified based on severity: 22% were mild, 34% were severe, 26% were critical, and 18% were deceased. Toll Like Receptor 7 (TLR7) single-nucleotide polymorphisms (rs3853839, rs179008, rs179009, and rs2302267) and MyD88 (rs7744) were genotyped using TaqMan OpenArray. The association of polymorphisms with disease outcomes was performed by logistic regression analysis adjusted by covariates. Results: A significant association of rs3853839 and rs7744 of the TLR7 and MyD88 genes, respectively, was found with COVID-19 severity. The G/G genotype of the rs3853839 TLR7 was associated with the critical outcome showing an Odd Ratio = 1.98 (95% IC = 1.04–3.77). The results highlighted an association of the G allele of MyD88 gene with severe, critical and deceased outcomes. Furthermore, in the dominant model (AG + GG vs. AA), we observed an Odd Ratio = 1.70 (95% CI = 1.02–2.86) with severe, Odd Ratio = 1.82 (95% CI = 1.04–3.21) with critical, and Odd Ratio = 2.44 (95% CI = 1.21–4.9) with deceased outcomes. Conclusion: To our knowledge this work represents an innovative report that highlights the significant association of TLR7 and MyD88 gene polymorphisms with COVID-19 outcomes and the possible implication of the MyD88 variant with D-dimer and IFN-α concentrations.
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- 2023
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3. The fatal contribution of serine protease-related genetic variants to COVID-19 outcomes
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Laura Edith Martínez-Gómez, Carlos Martinez-Armenta, Teresa Tusie-Luna, Paola Vázquez-Cárdenas, Rosa P. Vidal-Vázquez, Juan P. Ramírez-Hinojosa, Diana Gómez-Martín, Gilberto Vargas-Alarcón, Rosalinda Posadas-Sánchez, José Manuel Fragoso, Aurora de la Peña, José Manuel Rodríguez-Pérez, Mónica M. Mata-Miranda, Gustavo J. Vázquez-Zapién, Adriana Martínez-Cuazitl, Felipe de J. Martínez-Ruiz, Dulce M. Zayago-Angeles, Luis Ramos-Tavera, Alberto Méndez-Aguilera, María del C. Camacho-Rea, María L. Ordoñez-Sánchez, Yayoi Segura-Kato, Carlos Suarez-Ahedo, Jessel Olea-Torres, Brígida Herrera-López, Carlos Pineda, Gabriela A. Martínez-Nava, and Alberto López-Reyes
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COVID-19 ,SERPINE1 ,TMPRSS2 ,Polymorphism ,SARS-CoV-2 ,Immunologic diseases. Allergy ,RC581-607 - Abstract
IntroductionSerine proteases play a critical role during SARS-CoV-2 infection. Therefore, polymorphisms of transmembrane protease serine 2 (TMPRSS2) and serpine family E member 1 (SERPINE1) could help to elucidate the contribution of variability to COVID-19 outcomes.MethodsTo evaluate the genetic variants of the genes previously associated with COVID-19 outcomes, we performed a cross-sectional study in which 1536 SARS-CoV-2-positive participants were enrolled. TMPRSS2 (rs2070788, rs75603675, rs12329760) and SERPINE1 (rs2227631, rs2227667, rs2070682, rs2227692) were genotyped using the Open Array Platform. The association of polymorphisms with disease outcomes was determined by logistic regression analysis adjusted for covariates (age, sex, hypertension, type 2 diabetes, and obesity).ResultsAccording to our codominant model, the GA genotype of rs2227667 (OR=0.55; 95% CI = 0.36-0.84; p=0.006) and the AG genotype of rs2227667 (OR=0.59; 95% CI = 0.38-0.91; p=0.02) of SERPINE1 played a protective role against disease. However, the rs2227692 T allele and TT genotype SERPINE1 (OR=1.45; 95% CI = 1.11-1.91; p=0.006; OR=2.08; 95% CI = 1.22-3.57; p=0.007; respectively) were associated with a decreased risk of death. Similarly, the rs75603675 AA genotype TMPRSS2 had an OR of 1.97 (95% CI = 1.07-3.6; p=0.03) for deceased patients. Finally, the rs2227692 T allele SERPINE1 was associated with increased D-dimer levels (OR=1.24; 95% CI = 1.03-1.48; p=0.02).DiscussionOur data suggest that the rs75603675 TMPRSS2 and rs2227692 SERPINE1 polymorphisms are associated with a poor outcome. Additionally, rs2227692 SERPINE1 could participate in hypercoagulable conditions in critical COVID-19 patients, and this genetic variant could contribute to the identification of new pharmacological targets and treatment strategies to block the inhibition of TMPRSS2 entry into SARS-CoV-2.
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- 2024
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4. Immunogenicity of RV1 and RV5 vaccines administered in standard and interchangeable mixed schedules: a randomized, double-blind, non-inferiority clinical trial in Mexican infants
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Mercedes Macías-Parra, Patricia Vidal-Vázquez, Jesús Reyna-Figueroa, Miguel Ángel Rodríguez-Weber, Hortensia Moreno-Macías, Inés Hernández-Benavides, Sofía Fortes-Gutiérrez, Vesta Louise Richardson, and Paola Vázquez-Cárdenas
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rotavirus ,vaccine interchangeability ,RV1 ,RV5 ,immunogenicity ,safety ,Public aspects of medicine ,RA1-1270 - Abstract
IntroductionRotavirus-associated diarrheal diseases significantly burden healthcare systems, particularly affecting infants under five years. Both Rotarix™ (RV1) and RotaTeq™ (RV5) vaccines have been effective but have distinct application schedules and limited interchangeability data. This study aims to provide evidence on the immunogenicity, reactogenicity, and safety of mixed RV1-RV5 schedules compared to their standard counterparts.MethodsThis randomized, double-blind study evaluated the non-inferiority in terms of immunogenicity of mixed rotavirus vaccine schedules compared to standard RV1 and RV5 schedules in a cohort of 1,498 healthy infants aged 6 to 10 weeks. Participants were randomly assigned to one of seven groups receiving various combinations of RV1, and RV5. Standard RV1 and RV5 schedules served as controls of immunogenicity, reactogenicity, and safety analysis. IgA antibody levels were measured from blood samples collected before the first dose and one month after the third dose. Non-inferiority was concluded if the reduction in seroresponse rate in the mixed schemes, compared to the standard highest responding scheme, did not exceed the non-inferiority margin of −0.10. Reactogenicity traits and adverse events were monitored for 30 days after each vaccination and analyzed on the entire cohort.ResultsOut of the initial cohort, 1,365 infants completed the study. Immunogenicity analysis included 1,014 infants, considering IgA antibody titers ≥20 U/mL as seropositive. Mixed vaccine schedules demonstrated non-inferiority to standard schedules, with no significant differences in immunogenic response. Safety profiles were comparable across all groups, with no increased incidence of serious adverse events or intussusception.ConclusionThe study confirms that mixed rotavirus vaccine schedules are non-inferior to standard RV1 and RV5 regimens in terms of immunogenicity and safety. This finding supports the flexibility of rotavirus vaccination strategies, particularly in contexts of vaccine shortage or logistic constraints. These results contribute to the global effort to optimize rotavirus vaccination programs for broader and more effective pediatric coverage.Clinical trial registration: ClinicalTrials.gov, NCT02193061.
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- 2024
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5. Implementation of Biotechnology Applied to Medicine Course Using Virtual Laboratories: Perceptions and Attitudes of Students
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Edgar Oswaldo Zamora-González, Angel Herráez, Paula Daniela Gutiérrez-Muñoz, Olivia Torres-Bugarín, María Valentina Toral-Murillo, Benjamín Gómez-Díaz, Cecilia Adriana Calderón-Reyes, Norma Alejandra Vázquez-Cárdenas, Antonio Marín-Cruz, Marcela María José Rodríguez-Baeza, Nathaniel Lara-Palazuelos, and Luz Berenice López-Hernández
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virtual laboratories ,medical students ,simulation ,perception ,attitudes ,Education - Abstract
The rapid evolution of biotechnology across various sectors, including agriculture, industry, and medicine, has profoundly transformed our comprehension of the world. Virtual laboratories (VLs) provide an immersive learning experience that can enhance future generations’ understanding of biotechnology’s medical applications. This study investigated the impact of incorporating VLs into a short course on biotechnology applied to medicine on the attitudes and perceptions of third-year medical students (n = 210). A validated questionnaire was employed to assess their perspectives, attitudes, and experience with virtual laboratory platforms before and after the course. The findings revealed a significant positive change in 7/38 questionnaire items (p < 0.05), indicating that the VL experience modified perceptions about biotechnology. This study emphasizes the importance of exploring innovative teaching methods for biotechnology and highlights the advantages of VL in educating future physicians. The primary concerns of the students were the misuse of personal genetic information and biotechnological applications involving animal modification. Overall, the students had a favorable experience using the virtual laboratory platforms. These findings collectively suggest that VL can positively influence perceptions and attitudes toward biotechnology among healthcare professionals.
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- 2024
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6. Assessing knowledge, perceptions, awareness and attitudes on rare diseases among health care providers and health students in Mexico
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Benjamín Gómez-Díaz, Edgar Oswaldo Zamora-González, Antonio Miranda-Duarte, Bladimir Roque-Ramírez, Norma Alejandra Vázquez-Cárdenas, Georgina Martínez-Gómez, Jhoana Martín del Campo, Erick Castillo-Jáuregui, Ángel Rafael Castro-Navarro, Antonio Marín-Cruz, Stephanie Rosas-Maldonado, Paulina Elizabeth Valdez-Anguiano, Reyna Araceli Barrera-López, and Luz Berenice López-Hernández
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Rare disease ,Knowledge ,Perceptions ,Attitudes ,Questionnaire ,Medicine ,Genetics ,QH426-470 - Abstract
Rare diseases (RDs) are serious and often fatal uncommon conditions with a high subjacent genetic origin. Since RD are not prevalent, knowledge regarding these diseases among health care providers and health students is scarce. The management of RD is often inadequate and precarious. Therefore, the aim of the present study is to assess the degree of knowledge, perceptions and attitudes of healthcare practitioners and students in Mexico. Herein we present a reliable questionnaire to assess the degree of knowledge, perceptions, awareness and attitudes of healthcare practitioners and students in Mexico with regard to RDs. The pilot study showed satisfactory levels of knowledge and significant differences in perceptions, awareness and attitudes among the study groups.
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- 2023
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7. The Probiotic Lactobacillus sakei Subsp. Sakei and Hawthorn Extract Supplements Improved Growth Performance, Digestive Enzymes, Immunity, and Resistance to the Pesticide Acetamiprid in Common Carp (Cyprinus carpio)
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Abdul-Hassan Mahdi Salih, Indrajit Patra, Ramaswamy Sivaraman, Rahim Alhamzawi, Kakhor M. Khalikov, Zahraa Haleem Al-qaim, Sahar Golgouneh, Mohammed Abed Jawad, Ali Hussein Adhab, Andrés Leonardo Vázquez-Cárdenas, and Safoura Abarghouei
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Aquaculture. Fisheries. Angling ,SH1-691 - Abstract
This study evaluated the impacts of the probiotic, Lactobacillus sakei (L. sakei), and the extract of hawthorn, Crataegus elbursensis, on growth and immunity of the common carp exposed to acetamiprid. Fish (mean±SE: 11.48±0.1 g) feeding was done with formulated diets (T1 (control): no supplementation, T2: 1×106 CFU/g LS (Lactobacillus sakei), T3: 1×108 CFU/g LS, T4: 0.5% hawthorn extract (HWE), and T5: 1% HWE) for 60 days and then exposed to acetamiprid for 14 days. The growth performance improved in the fish fed LS at dietary level of 1×108 CFU/g, even after exposure to acetamiprid (P
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- 2023
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8. Metabolic Reprogramming in SARS-CoV-2 Infection Impacts the Outcome of COVID-19 Patients
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Laura E. Martínez-Gómez, Isabel Ibarra-González, Cynthia Fernández-Lainez, Teresa Tusie, Hortensia Moreno-Macías, Carlos Martinez-Armenta, Guadalupe Elizabeth Jimenez-Gutierrez, Paola Vázquez-Cárdenas, Patricia Vidal-Vázquez, Juan P. Ramírez-Hinojosa, Ana P. Rodríguez-Zulueta, Gilberto Vargas-Alarcón, Gustavo Rojas-Velasco, Fausto Sánchez-Muñoz, Rosalinda Posadas-Sanchez, Felipe de J. Martínez-Ruiz, Dulce M. Zayago-Angeles, Mariana L. Moreno, Edith Barajas-Galicia, Gerardo Lopez-Cisneros, Nadia C. Gonzalez-Fernández, Silvestre Ortega-Peña, Brígida Herrera-López, Jessel Olea-Torres, Manuel Juárez-Arias, Maritza Rosas-Vásquez, Sara Aileen Cabrera-Nieto, Jonathan J. Magaña, María del Carmen Camacho-Rea, Carlos Suarez-Ahedo, Irma Coronado-Zarco, M. Y. Valdespino-Vázquez, Gabriela Angélica Martínez-Nava, Carlos Pineda, Marcela Vela-Amieva, Alberto López-Reyes, and Mex-Gen-COVID Initiative Group
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COVID-19 ,metabolomics ,SARS – CoV – 2 ,amino acids ,phenylalanine ,Immunologic diseases. Allergy ,RC581-607 - Abstract
IntroductionSevere acute respiratory syndrome–coronavirus 2 (SARS-CoV-2) infection triggers inflammatory clinical stages that affect the outcome of patients with coronavirus disease 2019 (COVID-19). Disease severity may be associated with a metabolic imbalance related to amino acids, lipids, and energy-generating pathways. The aim of this study was to characterize the profile of amino acids and acylcarnitines in COVID-19 patients. A multicenter, cross-sectional study was carried out. A total of 453 individuals were classified by disease severity. Levels of 11 amino acids, 31 acylcarnitines, and succinylacetone in serum samples were analyzed by electrospray ionization–triple quadrupole tandem mass spectrometry. Different clusters were observed in partial least squares discriminant analysis, with phenylalanine, alanine, citrulline, proline, and succinylacetone providing the major contribution to the variability in each cluster (variable importance in the projection >1.5). In logistic models adjusted by age, sex, type 2 diabetes mellitus, hypertension, and nutritional status, phenylalanine was associated with critical outcomes (odds ratio=5.3 (95% CI 3.16-9.2) in the severe vs. critical model, with an area under the curve of 0.84 (95% CI 0.77-0.90). In conclusion the metabolic imbalance in COVID-19 patients might affect disease progression. This work shows an association of phenylalanine with critical outcomes in COVID-19 patients, highlighting phenylalanine as a potential metabolic biomarker of disease severity.
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- 2022
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9. Differences in MTHFR and LRRK2 variant’s association with sporadic Parkinson’s disease in Mexican Mestizos correlated to Native American ancestry
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Elizabeth Romero-Gutiérrez, Paola Vázquez-Cárdenas, Hortensia Moreno-Macías, José Salas-Pacheco, Teresa Tusié-Luna, and Oscar Arias-Carrión
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Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Parkinson’s disease (PD), a common neurodegenerative disorder, has a complex etiology where environmental and genetic factors intervene. While a number of genes and variants have been identified in recent decades as causative or protective agents of this condition, a limited number of studies have been conducted in mixed populations, such as Mexican Mestizos. The historical convergence of two founding groups and three ethnicities, and the increasing north-to-south gradient of Native American ancestry in Mexico resulted in a subpopulation structure with considerable genetic diversity. In this work, we investigate the influence of 21 known susceptibility variants for PD. Our case–control study, with a cohort of 311 Mexican Mestizo subjects, found a significant risk association for the variant rs1491942 in LRRK2. However, when stratification by ancestry was performed, a risk effect for MTHFR rs1801133 was observed only in the group with the highest percentage of European ancestry, and the PD risk effect for LRRK2 rs1491942 was significant in subjects with a higher ratio of Native American ancestry. Meta-analyses of these SNP revealed the effect of LRRK2 rs1491942 to be even more significant than previously described in populations of European descent. Although corroboration is necessary, our findings suggest that polymorphism rs1491942 may be useful as a risk marker of PD in Mexican Mestizos with greater Native American ancestry. The absence of associations with the remaining known risk factors is, in itself, a relevant finding and invites further research into the shared risk factors’ role in the pathophysiological mechanisms of this neurodegenerative disorder.
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- 2021
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10. The -514C>T polymorphism in the LIPC gene modifies type 2 diabetes risk through modulation of HDL-cholesterol levels in Mexicans
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Guerra-García, M. T., Moreno-Macías, H., Ochoa-Guzmán, A., Ordoñez-Sánchez, M. L., Rodríguez-Guillen, R., Vázquez-Cárdenas, P., Ortíz-Ortega, V. M., Peimbert-Torres, M., Aguilar-Salinas, C. A., and Tusié-Luna, M. T.
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- 2021
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11. El exceso ritual manifiesto en el recurso de revocación fiscal
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Luis Eduardo Vázquez Cárdenas
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exceso ritual manifiesto ,recurso administrativo ,prevalencia del derecho sustancial ,debido proceso ,principio pro actione ,Law - Abstract
Desde su concepción en la jurisprudencia argentina, la doctrina del exceso ritual manifiesto ha influido en la impartición de justicia en diversos países, incluyendo a México. Aunque la jurisprudencia mexicana no utiliza habitualmente la expresión “exceso ritual manifiesto”, ha adoptado por diversas vías la doctrina propia de dicha figura. Dicha doctrina permite identificar el apego excesivo, mecánico o desproporcionado a las normas procedimentales. Entre los medios de defensa en materia fiscal, el recurso de revocación destaca por haberse creado con la intención expresa de privilegiar el fondo sobre la forma y de reducir formalismos. Sin embargo, todavía existen disposiciones y aplicaciones ritualistas de las reglas del procedimiento que contradicen esa finalidad.
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- 2022
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12. ACE and ACE2 Gene Variants Are Associated With Severe Outcomes of COVID-19 in Men
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Laura E. Martínez-Gómez, Brígida Herrera-López, Carlos Martinez-Armenta, Silvestre Ortega-Peña, María del Carmen Camacho-Rea, Carlos Suarez-Ahedo, Paola Vázquez-Cárdenas, Gilberto Vargas-Alarcón, Gustavo Rojas-Velasco, José Manuel Fragoso, Patricia Vidal-Vázquez, Juan P. Ramírez-Hinojosa, Yunuen Rodríguez-Sánchez, David Barrón-Díaz, Mariana L. Moreno, Felipe de J. Martínez-Ruiz, Dulce M. Zayago-Angeles, Mónica Maribel Mata-Miranda, Gustavo Jesús Vázquez-Zapién, Adriana Martínez-Cuazitl, Edith Barajas-Galicia, Ludwing Bustamante-Silva, Diana Zazueta-Arroyo, José Manuel Rodríguez-Pérez, Olivia Hernández-González, Roberto Coronado-Zarco, Vania Lucas-Tenorio, Rafael Franco-Cendejas, Luis Esau López-Jácome, Rocío Carmen Vázquez-Juárez, Jonathan J. Magaña, Marlid Cruz-Ramos, Julio Granados, Susana Hernández-Doño, Diego Delgado-Saldivar, Luis Ramos-Tavera, Irma Coronado-Zarco, Gustavo Guajardo-Salinas, José Francisco Muñoz-Valle, Carlos Pineda, Gabriela Angélica Martínez-Nava, and Alberto López-Reyes
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COVID-19 ,SARS-CoV-2 ,ACE2 ,ACE ,genetic variants ,polymorphism ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the current coronavirus disease 2019 (COVID-19) pandemic, affecting more than 219 countries and causing the death of more than 5 million people worldwide. The genetic background represents a factor that predisposes the way the host responds to SARS-CoV-2 infection. In this sense, genetic variants of ACE and ACE2 could explain the observed interindividual variability to COVID-19 outcomes. In order to improve the understanding of how genetic variants of ACE and ACE2 are involved in the severity of COVID-19, we included a total of 481 individuals who showed clinical manifestations of COVID-19 and were diagnosed by reverse transcription PCR (RT-PCR). Genomic DNA was extracted from peripheral blood and saliva samples. ACE insertion/deletion polymorphism was evaluated by the high-resolution melting method; ACE single-nucleotide polymorphism (SNP) (rs4344) and ACE2 SNPs (rs2285666 and rs2074192) were genotyped using TaqMan probes. We assessed the association of ACE and ACE2 polymorphisms with disease severity using logistic regression analysis adjusted by age, sex, hypertension, type 2 diabetes, and obesity. The severity of the illness in our study population was divided as 31% mild, 26% severe, and 43% critical illness; additionally, 18% of individuals died, of whom 54% were male. Our results showed in the codominant model a contribution of ACE2 gene rs2285666 T/T genotype to critical outcome [odds ratio (OR) = 1.83; 95%CI = 1.01–3.29; p = 0.04] and to require oxygen supplementation (OR = 1.76; 95%CI = 1.01–3.04; p = 0.04), in addition to a strong association of the T allele of this variant to develop critical illness in male individuals (OR = 1.81; 95%CI = 1.10–2.98; p = 0.02). We suggest that the T allele of rs2285666 represents a risk factor for severe and critical outcomes of COVID-19, especially for men, regardless of age, hypertension, obesity, and type 2 diabetes.
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- 2022
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13. Differences in MTHFR and LRRK2 variant’s association with sporadic Parkinson’s disease in Mexican Mestizos correlated to Native American ancestry
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Romero-Gutiérrez, Elizabeth, Vázquez-Cárdenas, Paola, Moreno-Macías, Hortensia, Salas-Pacheco, José, Tusié-Luna, Teresa, and Arias-Carrión, Oscar
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- 2021
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14. NLRP3 Inflammasome: The Stormy Link Between Obesity and COVID-19
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Alberto López-Reyes, Carlos Martinez-Armenta, Rocio Espinosa-Velázquez, Paola Vázquez-Cárdenas, Marlid Cruz-Ramos, Berenice Palacios-Gonzalez, Luis Enrique Gomez-Quiroz, and Gabriela Angélica Martínez-Nava
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severe acute respiratory syndrome coronavirus 2 ,coronavirus disease 2019 ,pyroptosis ,obesity ,inflammasome ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Several countries around the world have faced an important obesity challenge for the past four decades as the result of an obesogenic environment. This disease has a multifactorial origin and it is associated with multiple comorbidities including type 2 diabetes, hypertension, osteoarthritis, metabolic syndrome, cancer, and dyslipidemia. With regard to dyslipidemia, hypertriglyceridemia is a well-known activator of the NLRP3 inflammasome, triggering adipokines and cytokines secretion which in addition induce a systemic inflammatory state that provides an adequate scenario for infections, particularly those mediated by viruses such as HIV, H1N1 influenza, and SARS-CoV-2. The SARS-CoV-2 infection causes the coronavirus disease 2019 (COVID-19) and it is responsible for the pandemic that we are currently living. COVID-19 causes an aggressive immune response known as cytokine release syndrome or cytokine storm that causes multiorgan failure and in most cases leads to death. In the present work, we aimed to review the molecular mechanisms by which obesity-associated systemic inflammation could cause a more severe clinical presentation of COVID-19. The SARS-CoV-2 infection could potentiate or accelerate the pre-existing systemic inflammatory state of individuals with obesity, via the NLRP3 inflammasome activation and the release of pro-inflammatory cytokines from cells trough Gasdermin-pores commonly found in cell death by pyroptosis.
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- 2020
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15. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
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Dharmayat, Kanika Inamdar, Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Brandts, Julia M., Lyons, Alexander R.M., Groselj, Urh, Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid, Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Binder, Christoph, Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Cruz, Diogo, Descamps, Olivier S., Drogari, Euridiki, Durst, Ronen, Ezhov, Marat V., Genest, Jacques, Harada-Shiba, Mariko, Holven, Kirsten B., Humphries, Steve E., Khovidhunkit, Weerapan, Lalic, Katarina, Laufs, Ulrich, Liberopoulos, Evangelos, Roeters van Lennep, Jeanine, Lima-Martinez, Marcos Miguel, Lin, Jie, Maher, Vincent, März, Winfried, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Panayiotou, Andrie G., Paragh, György, Postadzhiyan, Arman, Reda, Ashraf, Reiner, Željko, Reyes, Ximena, Sadiq, Fouzia, Sahebkar, Amirhossein, Schunkert, Heribert, Shek, Aleksandr B., Stroes, Eric, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey, Vázquez Cárdenas, Alejandra, Huong Truong, Thanh, Tselepis, Alexandros D., Vohnout, Branislav, Wang, Luya, Yamashita, Shizuya, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Davletov, Kairat, Dwiputra, Bambang, Gaita, Dan, Kayikcioglu, Meral, Latkovskis, Gustavs, Marais, A. David, Thushara Matthias, Anne, Mirrakhimov, Erkin, Nordestgaard, Børge G., Petrulioniene, Zaneta, Pojskic, Belma, Sadoh, Wilson, Tilney, Myra, Tomlinson, Brian, Tybjærg-Hansen, Anne, Viigimaa, Margus, Catapano, Alberico L., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Soran, Handrean, Raal, Frederick, Watts, Gerald F., Schreier, Laura, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, de Gier, Charlotte, Dieplinger, Hans, Höllerl, Florian, Innerhofer, Reinhold, Karall, Daniela, Lischka, Julia, Ludvik, Bernhard, Mäser, Martin, Scholl-Bürgi, Sabine, Thajer, Alexandra, Toplak, Hermann, Demeure, Fabian, Mertens, Ann, Balligand, Jean-Luc, Stephenne, Xavier, Sokal, Etienne, Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Hegele, Robert A, Gaudet, Daniel, Brunham, Liam, Ruel, Isabelle, McCrindle, Brian, Cuevas, Ada, Perica, Dražen, Symeonides, Phivos, Trogkanis, Efstratios, Kostis, Andreas, Ioannou, Andreas, Mouzarou, Angeliki, Georgiou, Anthoula, Stylianou, Andreas, Miltiadous, George, Iacovides, Paris, Deltas, Constantinos, Vrablik, Michal, Urbanova, Zuzana, Jesina, Pavel, Tichy, Lukas, Hyanek, Josef, Dvorakova, Jana, Cepova, Jana, Sykora, Josef, Buresova, Kristyna, Pipek, Michal, Pistkova, Eva, Bartkova, Ivana, S, Astrid, Toukalkova, Lenka, Spenerova, Michaela, Maly, Jan, Benn, Marianne, Bendary, Ahmed, Elbahry, Atef, Ferrières, Jean, Ferrieres, Dorota, Peretti, Noel, Bruckert, Eric, Gallo, Antonio, Valero, René, Mourre, Florian, Aouchiche, Karine, Reynaud, Rachel, Tounian, Patrick, Lemale, Julie, Boccara, Franck, Moulin, Philippe, Charrières, Sybil, Di Filippo, Mathilde, Cariou, Bertrand, Paillard, François, Dourmap, Caroline, Pradignac, Alain, Verges, Bruno, Simoneau, Isabelle, Farnier, Michel, Cottin, Yves, Yelnik, Cecile, Hankard, Regis, Schiele, François, Durlach, Vincent, Sultan, Ariane, Carrié, Alain, Rabès, Jean-Pierre, Sanin, Veronika, Schmieder, Roland, Ates, Sara, Rizos, Christos V., Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Skalidis, Emmanouil, Kolovou, Genovefa, Kolovou, Vana, Garoufi, Anastasia, Koutagiar, Iosif, Polychronopoulos, Georgios, Kiouri, Estela, Antza, Christina, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Adamidis, Petros-Spyridon, Milionis, Haralambos, Lambadiari, Vaia, Stabouli, Stella, Filippatos, Theodosios, Mollaki, Vicky, Tsaroumi, Anastasia, Lamari, Frida, Proyias, Pavlos, Harangi, Mariann, Reddy, Lakshmi Lavanya, Shah, Swarup A. V, Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Hosseini, Susan, Jamialahmadi, Tannaz, Alareedh, Mohammed, Shaghee, Foaad, Rhadi, Sabah Hasan, Abduljalal, Maryam, Alfil, Sarmad, Kareem, Huda, Cohen, Hofit, Leitersdorf, Eran, Schurr, Daniel, Shpitzen, Shoshi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Casula, Manuela, Galimberti, Federica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Giorgino, Francesco, Suppressa, Patrizia, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Scicali, Roberto, Pujia, Arturo, Passaro, Angelina, Berteotti, Martina, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, José Pablo, Parati, Gianfranco, Nascimbeni, Fabio, Iughetti, Lorenzo, Fortunato, Giuliana, Cavallaro, Raimondo, Iannuzzo, Gabriella, Calabrò, Paolo, Cefalù, Angelo Baldassare, Capra, Maria Elena, Zambon, Alberto, Pirro, Matteo, Sbrana, Francesco, Trenti, Chiara, Minicocci, Ilenia, Federici, Massimo, Del Ben, Maria, Buonuomo, Paola Sabrina, Moffa, Simona, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Lia, Salvatore, Benso, Andrea, Biolo, Gianni Biolo, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Rinaldi, Elisabetta, Zenti, Maria Grazia, Masuda, Daisaku, Mahfouz, Linda, Jambart, Selim, Ayoub, Carine, Ghaleb, Youmna, Kasim, Noor Alicezah Mohd, Nor, Noor Shafina Mohd, Al-Khateeb, Alyaa, Kadir, Siti Hamimah Sheikh Abdul, Chua, Yung-An, Razman, Aimi Zafira, Nazli, Sukma Azureen, Ranai, Norashikin Mohd, Latif, Ahmad Zubaidi Abd, Torres, María Teresa Magaña, Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A. Galan, Antonio-Villa, Neftali Eduardo, Vargas-Vazquez, Arsenio, Elias-Lopez, Daniel, Retana, Gustavo Gonzalez, Encinas, Bethsabel Rodriguez, Macias, Jose J. Ceballos, Zazueta, Alejandro Romero, Alvarado, Rocio Martinez, Portano, Julieta D. Morales, Lopez, Humberto Alvares, Sauque-Reyna, Leobardo, Gomez Herrera, Laura G., Simental Mendia, Luis E., Aguilar, Humberto Garcia, Cooremans, Elizabeth Ramirez, Aparicio, na, Zubieta, Victoria Mendoza, Gonzalez, Perla A. Carrillo, Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Dominguez, Guadalupe Jimenez, Garcia, Alinna Y. Ruiz, Arriaga Cazares, Hector E., Gonzalez Gonzalez, Jesus R., Mendez Valencia, Carla V., Padilla Padilla, Francisco G., Prado, Ramon Madriz, De los Rios Ibarra, Manuel O., na, Acevedo Rivera, Karina J., Carrera, Ricardo Allende, Alvarez, Jose A., Amezcua Martinez, Jose C., Barrera Bustillo, Manuel de los Reyes, Vargas, Gonzalo Carazo, Chacon, Roberto Contreras, Figueroa Andrade, Mario H., Ortega, Ashanty Flores, Alcala, Hector Garcia, Garcia de Leon, Laura E., Guzman, Berenice Garcia, Garcia, no, Garnica Cuellar, Juan C., Gomez Cruz, Jose R., Garcia, Anell Hernandez, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Sobrevilla, Fabiola Lugo, Rodriguez, Eduardo Marquez, Sibaja, Cristina Martinez, Medrano Rodriguez, Alma B., Morales Oyervides, Jose C., Perez Vazquez, Daniel I., Reyes Rodriguez, Eduardo A., Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Valdez Talavera, Luis A., Vera Arroyo, Luis E., Zepeda Carrillo, Eloy A., Galema-Boers, Annette, Weigman, Albert, Bogsrud, Martin P., Malik, Munir, Shah, Saeedullah, Khan, Sabeen Abid, Rana, Muhammad Asim, Batool, Hijab, Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bielecka-Dąbrowa, Agata, Gach, Agnieszka, Jóźwiak, Jacek, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Hellmann, Marcin, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Michalska-Grzonkowska, Aleksandra, Chlebus, Izabela, Kleinschmidt, Mariola, Wojtecka, Agnieszka, Zdrojewski, Tomasz, Myśliwiec, Małgorzata, Hennig, Matylda, Medeiros, Ana Margarida, Alves, Ana Catarina, Almeida, Ana Filipa, Lopes, Andreia, Guerra, António, Bilhoto, Carla, Simões, Fernando, Silva, Francisco, Lobarinhas, Goreti, Gama, Guida, Palma, Isabel, Salgado, José Miguel, Matos, Luísa Diogo, Moura, Márcio de, Virtuoso, Maria João, Tavares, Mónica, Ferreira, Patrícia, Pais, Patrícia, Garcia, Paula, Coelho, Raquel, Ribeiro, Raquel, Correia, Susana, Sadykova, Dinara, Slastnikova, Evgenia, Alammari, Dalal, Mawlawi, Horia Ahmed, Alsahari, Atif, Khudary, Alia Abdullah, Alrowaily, Nawal Lafi, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Rasulic, Iva, Petakov, Ana, Lalic, Nebojsa M., Peng, Fabian Kok, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Raslova, Katarina, Fabryova, Lubomira, Nociar, Jan, Šaligova, Jana, Potočňáková, Ludmila, Kozárová, Miriam, Varga, Tibor, Kadurova, Michaela, Debreova, Marianna, Novodvorsky, Peter, Gonova, Katarina, Klabnik, Alexander, Buganova, Ingrid, Battelino, Tadej, Bizjan, Barbara Jenko, Debeljak, Marusa, Kovac, Jernej, Mlinaric, Matej, Molk, Neza, Sikonja, Jaka, Sustar, Ursa, Podkrajsek, Katarina Trebusak, Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose Luis, de Andrés, Raimundo, Fuentes-Jiménez, Francisco, Blom, Dirk, Miserez, Eleonore B., Shipton, Janine L., Ganokroj, Poranee, Futema, Marta, Ramaswami, Uma, Alieva, Rano B., Fozilov, Khurshid G., Khoshimov, Shavkat U., Nizamov, Ulugbek I., Abdullaeva, Guzal J., Kan, Liliya E., Abdullaev, Alisher A., Zakirova, Daria V., Do, Doan-Loi, Nguyen, Mai-Ngoc-Thi, Kim, Ngoc-Thanh, Le, Thanh-Tung, Le, Hong-An, Santos, Raul, and Ray, Kausik K.
- Abstract
Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies.
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- 2024
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16. Allopurinol-Induced Toxic Epidermal Necrolysis
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Buenrostro-Rubio, Ignacio, Silva-Villaseñor, José Antonio, Hatami-Blechner, Avi William, Salazar-del Valle, Juan J, Vázquez-Cárdenas, Norma Alejandra, Bustamante-Montes, Lilia Patricia, and González-Alvarez, Rafael
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- 2019
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17. El consentimiento informado en la investigación pediátrica
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J Flores-Pérez, S Monroy-Santoyo, M Ruíz-García, JF González-Zamora, AM Niembro-Zúñiga, SR Greenawalt-Rodríguez, O Sánchez-Guerrero, J Priego y Romo, J De Rubens-Figueroa, C Vázquez-Cárdenas, A Escamilla- Villa, and CG Palacios-López
- Subjects
medicina ,pediatria ,consentimiento informado ,investigación ,Medicine ,Pediatrics ,RJ1-570 - Abstract
Los informes de abusos cometidos durante la Segunda Guerra Mundial, en sujetos sometidos a experimentos biomédicos, son el punto de referencia para la formulación de las reglas básicas a fin de llevar a cabo investigación en seres humanos. Así, surge el Informe Belmont, en el que quedan plasmados los tres principios éticos básicos: respeto por la persona, cuya expresión máxima es la autonomía, el beneficio y la justicia.
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- 2017
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18. Implications of DNA Methylation in Parkinson’s Disease
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Ernesto Miranda-Morales, Karin Meier, Ada Sandoval-Carrillo, José Salas-Pacheco, Paola Vázquez-Cárdenas, and Oscar Arias-Carrión
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5-methylcytosine ,DNA methylation ,epigenetics ,folate ,alpha-synuclein ,neurodegeneration ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
It has been 200 years since Parkinson’s disease (PD) was first described, yet many aspects of its etiopathogenesis remain unclear. PD is a progressive and complex neurodegenerative disorder caused by genetic and environmental factors including aging, nutrition, pesticides and exposure to heavy metals. DNA methylation may be altered in response to some of these factors; therefore, it is proposed that epigenetic mechanisms, particularly DNA methylation, can have a fundamental role in gene–environment interactions that are related with PD. Epigenetic changes in PD-associated genes are now widely studied in different populations, to discover the mechanisms that contribute to disease development and identify novel biomarkers for early diagnosis and future pharmacological treatment. While initial studies sought to find associations between promoter DNA methylation and the regulation of associated genes in PD brain tissue, more recent studies have described concordant DNA methylation patterns between blood and brain tissue DNA. These data justify the use of peripheral blood samples instead of brain tissue for epigenetic studies. Here, we summarize the current data about DNA methylation changes in PD and discuss the potential of DNA methylation as a potential biomarker for PD. Additionally, we discuss environmental and nutritional factors that have been implicated in DNA methylation. Although the search for significant DNA methylation changes and gene expression analyses of PD-associated genes have yielded inconsistent and contradictory results, epigenetic modifications remain under investigation for their potential to reveal the link between environmental risk factors and the development of PD.
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- 2017
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19. Implication of myddosome complex genetic variants in outcome severity of COVID-19 patients
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Martínez-Gómez, Laura E., Martinez-Armenta, Carlos, Medina-Luna, Daniel, Ordoñez-Sánchez, María Luisa, Tusie-Luna, Tere, Ortega-Peña, Silvestre, Herrera-López, Brígida, Suarez-Ahedo, Carlos, Jimenez-Gutierrez, Guadalupe Elizabeth, Hidalgo-Bravo, Alberto, Vázquez-Cárdenas, Paola, Vidal-Vázquez, Rosa P., Ramírez-Hinojosa, Juan P., Martinez Matsumoto, Pilar Miyoko, Vargas-Alarcón, Gilberto, Posadas-Sánchez, Rosalinda, Fragoso, José-Manuel, Martínez-Ruiz, Felipe de J., Zayago-Angeles, Dulce M., Mata-Miranda, Mónica Maribel, Vázquez-Zapién, Gustavo Jesús, Martínez-Cuazitl, Adriana, Andrade-Alvarado, Javier, Granados, Julio, Ramos-Tavera, Luis, Camacho-Rea, María del Carmen, Segura-Kato, Yayoi, Rodríguez-Pérez, José Manuel, Coronado-Zarco, Roberto, Franco-Cendejas, Rafael, López-Jácome, Luis Esau, Magaña, Jonathan J., Vela-Amieva, Marcela, Pineda, Carlos, Martínez-Nava, Gabriela Angélica, and López-Reyes, Alberto
- Abstract
During a viral infection, the immune response is mediated by the toll-like receptors and myeloid differentiation Factor 88 (MyD88) that play an important role sensing infections such as SARS-CoV-2 which has claimed the lives of more than 6.8 million people around the world.
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- 2023
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20. Genetic determinants for gestational diabetes mellitus and related metabolic traits in Mexican women.
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Alicia Huerta-Chagoya, Paola Vázquez-Cárdenas, Hortensia Moreno-Macías, Leonardo Tapia-Maruri, Rosario Rodríguez-Guillén, Erika López-Vite, Guadalupe García-Escalante, Fernando Escobedo-Aguirre, Adalberto Parra-Covarrubias, Roberto Cordero-Brieño, Lizette Manzo-Carrillo, Rogelio Zacarías-Castillo, Carlos Vargas-García, Carlos Aguilar-Salinas, and Teresa Tusié-Luna
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Medicine ,Science - Abstract
Epidemiological and physiological similarities among Gestational Diabetes Mellitus (GDM) and Type 2 Diabetes (T2D) suggest that both diseases, share a common genetic background. T2D risk variants have been associated to GDM susceptibility. However, the genetic architecture of GDM is not yet completely understood. We analyzed 176 SNPs for 115 loci previously associated to T2D, GDM and body mass index (BMI), as well as a set of 118 Ancestry Informative Markers (AIMs), in 750 pregnant Mexican women. Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotype (CTTC: rs7901695, rs4506565, rs7903146, rs12243326; P=2.16 x 10(-06); OR=2.95) and a KCNQ1 haplotype (TTT: rs2237892, rs163184, rs2237897; P=1.98 x 10(-05); OR=0.55). In addition, we found two loci associated to glycemic traits: CENTD2 (60' OGTT glycemia: rs1552224, P=0.03727) and MTNR1B (HOMA B: rs1387153, P=0.05358). Remarkably, a major susceptibility SLC16A11 locus for T2D in Mexicans was not shown to play a role in GDM risk. The fact that two of the main T2D associated loci also contribute to the risk of developing GDM in Mexicans, confirm that both diseases share a common genetic background. However, lack of association with a Native American contribution T2D risk haplotype, SLC16A11, suggests that other genetic mechanisms may be in play for GDM.
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- 2015
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21. Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges
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Vázquez-Cárdenas, Alejandra, Vásquez-Velásquez, Ana I., Barros-Núñez, Patricio, Mantilla-Capacho, Johana, Rocchi, Mariano, and Rivera, Horacio
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- 2007
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22. Suppressing the Formation of High n-Phase and 3D Perovskites in the Fabrication of Ruddlesden-Popper Perovskite Thin Films by Bulky Organic Cation Engineering.
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Vázquez-Cárdenas, Rubén, Rodríguez-Romero, Jesús, Echeverría-Arrondo, Carlos, Sanchez-Diaz, Jesús, Chirvony, Vladimir S., Martínez-Pastor, Juan P., Díaz-Leyva, Pedro, Reyes-Gómez, Juan, Zarazua, Isaac, and Mora-Seró, Iván
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- 2022
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23. The -514C>T polymorphism in the LIPC gene modifies type 2 diabetes risk through modulation of HDL-cholesterol levels in Mexicans
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Guerra-García, M. T., primary, Moreno-Macías, H., additional, Ochoa-Guzmán, A., additional, Ordoñez-Sánchez, M. L., additional, Rodríguez-Guillen, R., additional, Vázquez-Cárdenas, P., additional, Ortíz-Ortega, V. M., additional, Peimbert-Torres, M., additional, Aguilar-Salinas, C. A., additional, and Tusié-Luna, M. T., additional
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- 2020
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24. Contribution of genetic, biochemical and environmental factors on insulin resistance and obesity in Mexican young adults.
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Flores-Viveros, Karla Lucero, Aguilar-Galarza, Beatriz Adriana, Ordóñez-Sánchez, María Luisa, Anaya-Loyola, Miriam Aracely, Moreno-Celis, Ulisses, Vázquez-Cárdenas, Paola, and García-Gasca, Teresa
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OBESITY genetics ,OBESITY risk factors ,METABOLIC syndrome risk factors ,INSULIN resistance risk factors ,ADIPOSE tissues ,BIOMARKERS ,BLOOD sugar ,ENVIRONMENTAL health ,FASTING ,GENETIC polymorphisms ,HEALTH promotion ,HIGH density lipoproteins ,HYPERLIPIDEMIA ,INSULIN resistance ,MULTIVARIATE analysis ,POLYMERASE chain reaction ,RISK assessment ,TRIGLYCERIDES ,MULTIPLE regression analysis ,METABOLIC syndrome ,DISEASE prevalence ,DISEASE risk factors - Abstract
• Young women are at risk of insulin resistance and obesity by environmental factors. • APOAV allele G correlates to hypertriglyceridemia, low HDL and metabolic syndrome. • ABCA1 allele A carriers show a high risk of obesity, low HDL and metabolic syndrome. • Carriers of allele T of GCKR show a greater high risk to high glucose. • Insulin resistance risk is correlated to the genetic variants when having BMI or HBF. Overweight/obesity, dyslipidemias, hypertension and hyperglycemia are strongly related to non-communicable diseases (NCD) in which genetic and environmental factors interact with each other. The Mexican population exhibit a genetic disposition to metabolic syndrome, type 2 diabetes, as well as many forms of dyslipidemia. This study aimed to determine the association between biochemical, genetic and environmental factors in the development of metabolic syndrome (MS), obesity and insulin resistance (IR) in Mexican young adults. Young women and men (n = 6750 between 19.3 ± 2.3 years old) participated in a health promotion program from the Autonomous University of Querétaro, México (SU-Salud program). A sub-sample of 665 participants was taken for the determination of single nucleotide polymorphisms (SNP) rs964184 (APOAV), rs9282541 (ABCA1) and rs1260326 (GCKR), using QuantStudio 12 K Flex Real-Time PCR System. For the multivariate analysis, a multiple logistic regression was performed. A prevalence of 22% of overweight and 7% of obesity was determined. The main metabolic risk factors were low levels of HDL-C (30%), IR (19%), and a high level of triglycerides (15%). The main factors associated with IR were body fat percentage and triglycerides; SNP for the ABCA1 gene was related to MS, obesity and low HDL-C; SNP for GCKR gene was related to high fasting glycemia, while APOAV SNP was related with MS, hypertriglyceridemia and low HDL-C. Our findings show that the Mexican genetic predisposition to NCD affects young adults, who can suffer MS, obesity and IR. Public health strategies must focus on prevention actions from an early age. [ABSTRACT FROM AUTHOR]
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- 2019
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25. Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela
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Lima-Martínez, Marcos M., Paoli, Mariela, Vázquez-Cárdenas, Alejandra, Magaña-Torres, María Teresa, Guevara, Ornella, Muñoz, María Carolina, Parrilla-Alvarez, Alberto, Márquez, Yuliangelys, Medeiros, Ana, and Bourbon, Mafalda
- Abstract
Describir la frecuencia, los aspectos clínicos, bioquímicos y moleculares de la hipercolesterolemia familiar (HF) en sujetos que acuden a una unidad de endocrinología.
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- 2024
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26. Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
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Hernández Flores, Teresita De Jesús, González García, Juan Ramón, Colima Fausto, Ana Gabriela, Vázquez Cárdenas, Norma Alejandra, Sánchez López, Yoaly, Zarate Morales, César Augusto, and Magaña Torres, María Teresa
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FAMILIAL hypercholesterolemia ,ALLELES ,APOLIPOPROTEINS ,BIOCHEMISTRY ,CELL receptors ,GENE expression ,PHENOMENOLOGY ,GENETIC mutation ,POLYMERASE chain reaction ,PHENOTYPES ,GENETIC testing ,SEQUENCE analysis ,DIAGNOSIS - Abstract
Background Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes accumulation of serum low-density lipoprotein cholesterol and premature cardiovascular disease. It is mainly related to mutations in the LDLR gene. Homozygous FH (HoFH) patients have the most severe form of the disease accounting for a worldwide prevalence of 1:1,000,000. In Mexico, at least 5 cases of HoFH have been reported. Objective The aim of this study was to describe the clinical, biochemical, and molecular data observed in patients with HoFH phenotype. Methods We included 13 patients, belonging to 11 families, with clinical and biochemical diagnoses suggestive of HoFH. Molecular analyses of the LDLR and APOB genes were performed by means of polymerase chain reaction followed by Sanger sequencing. Results The causal mutation of HoFH was found in 8 of 11 unrelated patients. Excepting 1, all were true homozygotes. Six different variants in LDLR were identified: c.-139delCTCCCCCTGC, p.Glu140Lys, p.Asp360His, p.Asn405Lys, p.Ala755Glyfs*7, and p.Leu759Serfs*6. Of these, p.Asp360His and p.Asn405Lys were detected for the first time in Mexico; p.Leu759Serfs*6 showed to be the most frequent (43.7% of the alleles 7/16), and c.-139delCTCCCCCTGC is a new variant located in the promoter region. Conclusions This work increases knowledge of biochemical and genetic features in Mexican patients with HoFH. A novel mutation in the LDLR gene promoter was detected: c.-139delCTCCCCCTGC, which possibly inhibits its expression. [ABSTRACT FROM AUTHOR]
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- 2018
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27. Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela
- Author
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Lima-Martínez, Marcos M., Paoli, Mariela, Vázquez-Cárdenas, Alejandra, Magaña-Torres, María Teresa, Guevara, Ornella, Muñoz, María Carolina, Parrilla-Alvarez, Alberto, Márquez, Yuliangelys, Medeiros, Ana, and Bourbon, Mafalda
- Abstract
To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit.
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- 2017
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28. Prevalence of the BCR/ABL1 transcripts in Mexican patients with chronic myelogenous leukemia.
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Meza-Espinoza, Juan Pablo, Gutiérrez-Angulo, Melva, Vázquez-Cárdenas, Alejandra, Delgado-Lamas, José Luis, Esparza-Flores, María Amparo, and González-García, Juan Ramón
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- 2007
29. A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma
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Córdova-Fletes, Domínguez, Vázquez-Cárdenas, Figuera, Neira, Rojas-Martínez, and Ortiz-López
- Abstract
AbstractCat-eye syndrome (CES) results from trisomy or tetrasomy of proximal 22q originated by a small supernumerary marker chromosome (sSMC). Two critical regions for the major clinical features of CES (CESCRs) have been suggested; however, CES clinical presentation often does not correlate with the sSMC genetic content. We report here a CES girl without coloboma and carrier of a de novo type I sSMC(22) as determined by G- and C-banding, NOR staining and microarrays. This sSMC included 6 distal genes outside the original CESCR and led to a tetrasomy for 22q11.1–22q11.21. The patient’s final karyotype was 47,XX,+psu dic(22)(q11.21).arr 22q11.1q11.21(15,250,000–17,035,860)×4 dn. The amplified region outside of CESCR included some genes that may be related to neurologic, heart and renal abnormalities. Conversely, even though the amplification included the CECR2gene, a major candidate for eye features, there was no coloboma in the patient. The genetic delineation of the present sSMC further strengthens that the CES clinical presentation does not fit completely with the duplicated genetic content and that CES is actually a genomic disorder. Furthermore, since we observed no mosaicism, we believe that other mechanisms might be behind the variability of CES phenotypes as well, mainly those related with functional interactions among amplified genes.Copyright © 2012 S. Karger AG, Basel
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- 2012
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30. Homozygous familial hypercholesterolemia: The c.1055G>A mutation in the LDLR gene and clinical heterogeneity.
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Magaña Torres, María Teresa, Mora-Hernández, Samantha, Vázquez Cárdenas, Norma Alejandra, and González Jaimes, Armando
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- 2014
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31. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
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Vallejo-Vaz, Antonio J., Stevens, Christophe A.T., Lyons, Alexander R.M., Dharmayat, Kanika I., Freiberger, Tomas, Hovingh, G. Kees, Mata, Pedro, Raal, Frederick J., Santos, Raul D., Soran, Handrean, Watts, Gerald F., Abifadel, Marianne, Aguilar-Salinas, Carlos A., Alhabib, Khalid F., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alnouri, Fahad, Alonso, Rodrigo, Al-Rasadi, Khalid, Al-Sarraf, Ahmad, Al-Sayed, Nasreen, Araujo, Francisco, Ashavaid, Tester F., Banach, Maciej, Béliard, Sophie, Benn, Marianne, Binder, Christoph J., Bogsrud, Martin P., Bourbon, Mafalda, Chlebus, Krzysztof, Corral, Pablo, Davletov, Kairat, Descamps, Olivier S., Durst, Ronen, Ezhov, Marat, Gaita, Dan, Genest, Jacques, Groselj, Urh, Harada-Shiba, Mariko, Holven, Kirsten B., Kayikcioglu, Meral, Khovidhunkit, Weerapan, Lalic, Katarina, Latkovskis, Gustavs, Laufs, Ulrich, Liberopoulos, Evangelos, Lima-Martinez, Marcos M., Lin, Jie, Maher, Vincent, Marais, A. David, März, Winfried, Mirrakhimov, Erkin, Miserez, André R., Mitchenko, Olena, Nawawi, Hapizah, Nordestgaard, Børge G., Panayiotou, Andrie G., Paragh, György, Petrulioniene, Zaneta, Pojskic, Belma, Postadzhiyan, Arman, Raslova, Katarina, Reda, Ashraf, Reiner, Željko, Sadiq, Fouzia, Sadoh, Wilson Ehidiamen, Schunkert, Heribert, Shek, Aleksandr B., Stoll, Mario, Stroes, Erik, Su, Ta-Chen, Subramaniam, Tavintharan, Susekov, Andrey V., Tilney, Myra, Tomlinson, Brian, Truong, Thanh Huong, Tselepis, Alexandros D., Tybjærg-Hansen, Anne, Vázquez Cárdenas, Alejandra, Viigimaa, Margus, Wang, Luya, Yamashita, Shizuya, Kastelein, John J.P., Bruckert, Eric, Vohnout, Branislav, Schreier, Laura, Pang, Jing, Ebenbichler, Christoph, Dieplinger, Hans, Innerhofer, Reinhold, Winhofer-Stöckl, Yvonne, Greber-Platzer, Susanne, Krychtiuk, Konstantin, Speidl, Walter, Toplak, Hermann, Widhalm, Kurt, Stulnig, Thomas, Huber, Kurt, Höllerl, Florian, Rega-Kaun, Gersina, Kleemann, Lucas, Mäser, Martin, Scholl-Bürgi, Sabine, Säly, Christoph, Mayer, Florian J., Sablon, Gaelle, Tarantino, Eric, Nzeyimana, Charlotte, Pojskic, Lamija, Sisic, Ibrahim, Nalbantic, Azra D., Jannes, Cinthia E., Pereira, Alexandre C., Krieger, Jose E., Petrov, Ivo, Goudev, Assen, Nikolov, Fedya, Tisheva, Snejana, Yotov, Yoto, Tzvetkov, Ivajlo, Baass, Alexis, Bergeron, Jean, Bernard, Sophie, Brisson, Diane, Brunham, Liam R., Cermakova, Lubomira, Couture, Patrick, Francis, Gordon A., Gaudet, Daniel, Hegele, Robert A., Khoury, Etienne, Mancini, G.B. John, McCrindle, Brian W., Paquette, Martine, Ruel, Isabelle, Cuevas, Ada, Asenjo, Sylvia, Wang, Xumin, Meng, Kang, Song, Xiantao, Yong, Qiang, Jiang, Tao, Liu, Ziyou, Duan, Yanyu, Hong, Jing, Ye, Pucong, Chen, Yan, Qi, Jianguang, Liu, Zesen, Li, Yuntao, Zhang, Chaoyi, Peng, Jie, Yang, Ya, Yu, Wei, Wang, Qian, Yuan, Hui, Cheng, Shitong, Jiang, Long, Chong, Mei, Jiao, Jian, Wu, Yue, Wen, Wenhui, Xu, Liyuan, Zhang, Ruiying, Qu, Yichen, He, Jianxun, Fan, Xuesong, Wang, Zhenjia, Chow, Elaine, Pećin, Ivan, Perica, Dražen, Symeonides, Phivos, Vrablik, Michal, Ceska, Richard, Soska, Vladimir, Tichy, Lukas, Adamkova, Vera, Franekova, Jana, Cifkova, Renata, Kraml, Pavel, Vonaskova, Katerina, Cepova, Jana, Dusejovska, Magdalena, Pavlickova, Lenka, Blaha, Vladimir, Rosolova, Hana, Nussbaumerova, Barbora, Cibulka, Roman, Vaverkova, Helena, Cibickova, Lubica, Krejsova, Zdenka, Rehouskova, Katerina, Malina, Pavel, Budikova, Milena, Palanova, Vaclava, Solcova, Lucie, Lubasova, Alena, Podzimkova, Helena, Bujdak, Juraj, Vesely, Jiri, Jordanova, Marta, Salek, Tomas, Urbanek, Robin, Zemek, Stanislav, Lacko, Jan, Halamkova, Hana, Machacova, Sona, Mala, Sarka, Cubova, Eva, Valoskova, Katerina, Burda, Lukas, Bendary, Ahmed, Daoud, Ihab, Emil, Sameh, Elbahry, Atef, Rafla, Samir, Sanad, Osama, Kazamel, Ghada, Ashraf, Mohamed, Sobhy, Mohamed, El-Hadidy, Amro, Shafy, Mohamed A., Kamal, Saif, Bendary, Mohamed, Talviste, Grete, Angoulvant, Denis, Boccara, Franck, Cariou, Bertrand, Carreau, Valérie, Carrie, Alain, Charrieres, Sybil, Cottin, Yves, Di-Fillipo, Mathilde, Ducluzeau, Pierre H., Dulong, Sonia, Durlach, Vincent, Farnier, Michel, Ferrari, Emile, Ferrieres, Dorota, Ferrieres, Jean, Gallo, Antonio, hankard, Regis, Inamo, Jocelyne, Lemale, Julie, Moulin, Philippe, Paillard, François, Peretti, Noel, Perrin, Agnès, Pradignac, Alain, Rabes, Jean P., Rigalleau, Vincent, Sultan, Ariane, Schiele, François, Tounian, Patrick, Valero, René, Verges, Bruno, Yelnik, Cécile, Ziegler, Olivier, Haack, Ira A., Schmidt, Nina, Dressel, Alexander, Klein, Isabel, Christmann, Jutta, Sonntag, Antonia, Stumpp, Christine, Boger, Diana, Biedermann, Dana, Usme, Monica M.N., Beil, F. Ulrich, Klose, Gerald, König, Christel, Gouni-Berthold, Ioanna, Otte, Britta, Böll, Gereon, Kirschbaum, Anja, Merke, Jürgen, Scholl, Johannes, Segiet, Thomas, Gebauer, Marco, Predica, Florentina, Mayer, Manfred, Leistikow, Frank, Füllgraf-Horst, Sabine, Müller, Cornelius, Schüler, Melanie, Wiener, Judith, Hein, Konrad, Baumgartner, Peter, Kopf, Stefan, Busch, Reinhold, Schömig, Michael, Matthias, Stephan, Allendorf-Ostwald, Nicole, Fink, Bruno, Böhm, Dieter, Jäkel, Alexander, Koschker, Ann-Cathrin, Schweizer, Rüdiger, Vogt, Anja, Parhofer, Klaus, König, Wolfgang, Reinhard, Wibke, Bäßler, Andrea, Stadelmann, Alexander, Schrader, Volker, Katzmann, Julius, Tarr, Adrienne, Steinhagen-Thiessen, Elisabeth, Kassner, Ursula, Paulsen, Gerret, Homberger, Jürgen, Zemmrich, Claudia, Seeger, Wolfgang, Biolik, Kathrin, Deiss, Dorothee, Richter, Corinna, Pantchechnikova, Elina, Dorn, Elena, Schatz, Ulrike, Julius, Ulrich, Spens, Antje, Wiesner, Tobias, Scholl, Michael, Rizos, Christos V., Sakkas, Nikolaos, Elisaf, Moses, Skoumas, Ioannis, Tziomalos, Konstantinos, Rallidis, Loukianos, Kotsis, Vasileios, Doumas, Michalis, Athyros, Vasileios, Skalidis, Emmanouil, Kolovou, Genovefa, Garoufi, Anastasia, Bilianou, Eleni, Koutagiar, Iosif, Agapakis, Dimitrios, Kiouri, Estela, Antza, Christina, Katsiki, Niki, Zacharis, Evangelos, Attilakos, Achilleas, Sfikas, George, Koumaras, Charalambos, Anagnostis, Panagiotis, Anastasiou, Georgia, Liamis, George, Koutsogianni, Amalia-Despoina, Karányi, Zsolt, Harangi, Mariann, Bajnok, László, Audikovszky, Mária, Márk, László, Benczúr, Béla, Reiber, István, Nagy, Gergely, Nagy, András, Reddy, Lakshmi L., Shah, Swarup A.V., Ponde, Chandrashekhar K., Dalal, Jamshed J., Sawhney, Jitendra P.S., Verma, Ishwar C., Altaey, Mays, Al-Jumaily, Khalid, Rasul, Dilshad, Abdalsahib, Ali F., Jabbar, Amer A., Al-ageedi, Mohanad, Agar, Ruth, Cohen, Hofit, Ellis, Avishay, Gavishv, Dov, Harats, Dror, Henkin, Yaacov, Knobler, Hila, Leavit, Leah, Leitersdorf, Eran, Rubinstein, Ardon, Schurr, Daniel, Shpitzen, Shoshi, Szalat, Auryan, Casula, Manuela, Zampoleri, Veronica, Gazzotti, Marta, Olmastroni, Elena, Sarzani, Riccardo, Ferri, Claudio, Repetti, Elena, Sabbà, Carlo, Bossi, Antonio Carlo, Borghi, Claudio, Muntoni, Sandro, Cipollone, Francesco, Purrello, Francesco, Pujia, Arturo, Passaro, Angelina, Marcucci, Rossella, Pecchioli, Valerio, Pisciotta, Livia, Mandraffino, Giuseppe, Pellegatta, Fabio, Mombelli, Giuliana, Branchi, Adriana, Fiorenza, Anna Maria, Pederiva, Cristina, Werba, Josè Pablo, Parati, Gianfranco, Carubbi, Francesca, Iughetti, Lorenzo, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Calabrò, Paolo, Averna, Maurizio, Biasucci, Giacomo, Zambon, Sabina, Roscini, Anna Rita, Trenti, Chiara, Arca, Marcello, Federici, Massimo, Del Ben, Maria, Bartuli, Andrea, Giaccari, Andrea, Pipolo, Antonio, Citroni, Nadia, Guardamagna, Ornella, Bonomo, Katia, Benso, Andrea, Biolo, Gianni, Maroni, Lorenzo, Lupi, Alessandro, Bonanni, Luca, Zenti, Maria Grazia, Matsuki, Kota, Hori, Mika, Ogura, Masatsune, Masuda, Daisaku, Kobayashi, Takuya, Nagahama, Kumiko, Al-Jarallah, Mohammed, Radovic, Mirjana, Lunegova, Olga, Bektasheva, Erkayim, Khodzhiboboev, Elyor, Erglis, Andrejs, Gilis, Dainus, Nesterovics, Georgijs, Saripo, Vita, Meiere, Ruta, Upena-RozeMicena, Arta, Terauda, Elizabete, Jambart, Selim, Khoury, Petra E., Elbitar, Sandy, Ayoub, Carine, Ghaleb, Youmna, Aliosaitiene, Urte, Kutkiene, Sandra, Kasim, Noor A.M., Nor, Noor S.M., Ramli, Anis S., Razak, Suraya A., Al-Khateeb, Alyaa, Kadir, Siti H.S.A., Muid, Suhaila A., Rahman, Thuhairah A., Kasim, Sazzli S., Radzi, Ahmad B.M., Ibrahim, Khairul S., Razali, Salmi, Ismail, Zaliha, Ghani, Rohana A., Hafidz, Muhammad I.A., Chua, Ang L., Rosli, Marshima M., Annamalai, Muthukkaruppan, Teh, Lay K., Razali, Rafezah, Chua, Yung A., Rosman, Azhari, Sanusi, Abdul R., Murad, Nor A.A., Jamal, A. Rahman A., Nazli, Sukma A., Razman, Aimi Z., Rosman, Norhidayah, Rahmat, Radzi, Hamzan, Nur S., Azzopardi, C., Mehta, Roopa, Martagon, Alexandro J., Ramirez, Gabriela A.G., Villa, Neftali E.A., Vazquez, Arsenio V., Elias-Lopez, Daniel, Retana, Gustavo G., Rodriguez, Betsabel, Macías, Jose J.C., Zazueta, Alejandro R., Alvarado, Rocio M., Portano, Julieta D.M., Lopez, Humberto A., Sauque-Reyna, Leobardo, Herrera, Laura G.G., Mendia, Luis E.S., Aguilar, Humberto Garcia, Cooremans, Elizabeth R., Aparicio, Berenice P., Zubieta, Victoria M., Gonzalez, Perla A.C., Ferreira-Hermosillo, Aldo, Portilla, Nacu C., Dominguez, Guadalupe J., Garcia, Alinna Y.R., Cazares, Hector E.A., Gonzalez, Jesus R., Valencia, Carla V.M., Padilla, Francisco G., Prado, Ramon M., De los Rios Ibarra, Manuel O., Villicaña, Ruy D.A., Rivera, Karina J.A., Carrera, Ricardo A., Alvarez, Jose A., Martinez, Jose C.A., de los Reyes Barrera Bustillo, Manuel, Vargas, Gonzalo C., Chacon, Roberto C., Andrade, Mario H.F., Ortega, Ashanty F., Alcala, Hector G., de Leon, Laura E.G., Guzman, Berenice G., Garcia, Jose J.G., Cuellar, Juan C.G., Cruz, Jose R.G., Garcia, Anell Hernandez, Almada, Jesus R.H., Herrera, Ursulo J., Sobrevilla, Fabiola L., Rodriguez, Eduardo M., Sibaja, Cristina M., Rodriguez, Alma B.M., Oyervides, Jose C.M., Vazquez, Daniel I.P., Rodriguez, Eduardo A.R., Osorio, Ma L.R., Saucedo, Juan R., Tamayo, Margarita T., Talavera, Luis A.V., Arroyo, Luis E.V., Carrillo, Eloy A.Z., Isara, Alphonsus, Obaseki, Darlington E., Al-Waili, Khalid, Al-Zadjali, Fahad, Al-Zakwani, Ibrahim, Al-Kindi, Mohammed, Al-Mukhaini, Suad, Al-Barwani, Hamida, Rana, Asim, Shah, Lahore S.U., Starostecka, Ewa, Konopka, Agnieszka, Lewek, Joanna, Bartłomiejczyk, Marcin, Gąsior, Mariusz, Dyrbuś, Krzysztof, Jóźwiak, Jacek, Gruchała, Marcin, Pajkowski, Marcin, Romanowska-Kocejko, Marzena, Żarczyńska-Buchowiecka, Marta, Chmara, Magdalena, Wasąg, Bartosz, Parczewska, Aleksandra, Gilis-Malinowska, Natasza, Borowiec-Wolna, Justyna, Stróżyk, Aneta, Woś, Marlena, Michalska-Grzonkowska, Aleksandra, Medeiros, Ana M., Alves, Ana C., Silva, Francisco, Lobarinhas, Goreti, Palma, Isabel, de Moura, Jose P., Rico, Miguel T., Rato, Quitéria, Pais, Patrícia, Correia, Susana, Moldovan, Oana, Virtuoso, Maria J., Salgado, Jose M., Colaço, Ines, Dumitrescu, Andreea, Lengher, Calin, Mosteoru, Svetlana, Meshkov, Alexey, Ershova, Alexandra, Rozkova, Tatiana, Korneva, Victoria, Yu, Kuznetsova T., Zafiraki, Vitaliy, Voevoda, Mikhail, Gurevich, Victor, Duplyakov, Dmitry, Ragino, Yulia, Safarova, Maya, Shaposhnik, Igor, Alkaf, Fahmi, Khudari, Alia, Rwaili, Nawal, Al-Allaf, Faisal, Alghamdi, Mohammad, Batais, Mohammed A., Almigbal, Turky H., Kinsara, Abdulhalim, AlQudaimi, Ashraf H.A., Awan, Zuhier, Elamin, Omer A., Altaradi, Hani, Rajkovic, Natasa, Popovic, Ljiljana, Singh, Sandra, Stosic, Ljubica, Rasulic, Iva, Lalic, Nebojsa M., Lam, Carolyn, Le, Tan J., Siang, Eric L.T., Dissanayake, Sanjaya, I-Shing, Justin T., Shyong, Tai E., Jin, Terrance C.S., Balinth, Karin, Buganova, Ingrid, Fabryova, Lubomira, Kadurova, Michaela, Klabnik, Alexander, Kozárová, Miriam, Sirotiakova, Jana, Battelino, Tadej, Kovac, Jernej, Mlinaric, Matej, Sustar, Ursa, Podkrajsek, Katarina T., Fras, Zlatko, Jug, Borut, Cevc, Matija, Pilcher, Gillian J., Blom, D.J., Wolmarans, K.H., Brice, B.C., Muñiz-Grijalvo, Ovidio, Díaz-Díaz, Jose L., de Isla, Leopoldo P., Fuentes, Francisco, Badimon, Lina, Martin, François, Lux, Angela, Chang, Nien-Tzu, Ganokroj, Poranee, Akbulut, Mehmet, Alici, Gökhan, Bayram, Fahri, Can, Levent H., Celik, Ahmet, Ceyhan, Ceyhun, Coskun, Fatma Y., Demir, Mesut, Demircan, Sabri, Dogan, Volkan, Durakoglugil, Emre, Dural, Ibrahim E., Gedikli, Omer, Hacioglu, Aysa, Ildizli, Muge, Kilic, Salih, Kirilmaz, Bahadir, Kutlu, Merih, Oguz, Aytekin, Ozdogan, Oner, Onrat, Ersel, Ozer, Savas, Sabuncu, Tevfik, Sahin, Tayfun, Sivri, Fatih, Sonmez, Alper, Temizhan, Ahmet, Topcu, Selim, Tuncez, Abdullah, Vural, Mirac, Yenercag, Mustafa, Yesilbursa, Dilek, Yigit, Zerrin, Yildirim, Aytul B., Yildirir, Aylin, Yilmaz, Mehmet B., Atallah, Bassam, Traina, Mahmoud, Sabbour, Hani, Hay, Dana A., Luqman, Neama, Elfatih, Abubaker, Abdulrasheed, Arshad, Kwok, See, Oca, Nicolas D., Reyes, Ximena, Alieva, Rano B., Kurbanov, Ravshanbek D., Hoshimov, Shavkat U., Nizamov, Ulugbek I., Ziyaeva, Adolat V., Abdullaeva, Guzal J., Do, Doan L., Nguyen, Mai N.T., Kim, Ngoc T., Le, Thanh T., Le, Hong A., Tokgozoglu, Lale, Catapano, Alberico L., and Ray, Kausik K.
- Abstract
The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally.
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- 2021
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32. The fatal contribution of serine protease-related genetic variants to COVID-19 outcomes.
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Martínez-Gómez LE, Martinez-Armenta C, Tusie-Luna T, Vázquez-Cárdenas P, Vidal-Vázquez RP, Ramírez-Hinojosa JP, Gómez-Martín D, Vargas-Alarcón G, Posadas-Sánchez R, Fragoso JM, de la Peña A, Rodríguez-Pérez JM, Mata-Miranda MM, Vázquez-Zapién GJ, Martínez-Cuazitl A, Martínez-Ruiz FJ, Zayago-Angeles DM, Ramos-Tavera L, Méndez-Aguilera A, Camacho-Rea MDC, Ordoñez-Sánchez ML, Segura-Kato Y, Suarez-Ahedo C, Olea-Torres J, Herrera-López B, Pineda C, Martínez-Nava GA, and López-Reyes A
- Subjects
- Humans, Serine Proteases, SARS-CoV-2, Cross-Sectional Studies, COVID-19 genetics, Diabetes Mellitus, Type 2
- Abstract
Introduction: Serine proteases play a critical role during SARS-CoV-2 infection. Therefore, polymorphisms of transmembrane protease serine 2 ( TMPRSS2 ) and serpine family E member 1 ( SERPINE1 ) could help to elucidate the contribution of variability to COVID-19 outcomes., Methods: To evaluate the genetic variants of the genes previously associated with COVID-19 outcomes, we performed a cross-sectional study in which 1536 SARS-CoV-2-positive participants were enrolled. TMPRSS2 (rs2070788, rs75603675, rs12329760) and SERPINE1 (rs2227631, rs2227667, rs2070682, rs2227692) were genotyped using the Open Array Platform. The association of polymorphisms with disease outcomes was determined by logistic regression analysis adjusted for covariates (age, sex, hypertension, type 2 diabetes, and obesity)., Results: According to our codominant model, the GA genotype of rs2227667 (OR=0.55; 95% CI = 0.36-0.84; p =0.006) and the AG genotype of rs2227667 (OR=0.59; 95% CI = 0.38-0.91; p =0.02) of SERPINE1 played a protective role against disease. However, the rs2227692 T allele and TT genotype SERPINE1 (OR=1.45; 95% CI = 1.11-1.91; p =0.006; OR=2.08; 95% CI = 1.22-3.57; p =0.007; respectively) were associated with a decreased risk of death. Similarly, the rs75603675 AA genotype TMPRSS2 had an OR of 1.97 (95% CI = 1.07-3.6; p =0.03) for deceased patients. Finally, the rs2227692 T allele SERPINE1 was associated with increased D-dimer levels (OR=1.24; 95% CI = 1.03-1.48; p =0.02)., Discussion: Our data suggest that the rs75603675 TMPRSS2 and rs2227692 SERPINE1 polymorphisms are associated with a poor outcome. Additionally, rs2227692 SERPINE1 could participate in hypercoagulable conditions in critical COVID-19 patients, and this genetic variant could contribute to the identification of new pharmacological targets and treatment strategies to block the inhibition of TMPRSS2 entry into SARS-CoV-2., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Martínez-Gómez, Martinez-Armenta, Tusie-Luna, Vázquez-Cárdenas, Vidal-Vázquez, Ramírez-Hinojosa, Gómez-Martín, Vargas-Alarcón, Posadas-Sánchez, Fragoso, de la Peña, Rodríguez-Pérez, Mata-Miranda, Vázquez-Zapién, Martínez-Cuazitl, Martínez-Ruiz, Zayago-Angeles, Ramos-Tavera, Méndez-Aguilera, Camacho-Rea, Ordoñez-Sánchez, Segura-Kato, Suarez-Ahedo, Olea-Torres, Herrera-López, Pineda, Martínez-Nava and López-Reyes.)
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- 2024
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- View/download PDF
33. Immunogenicity of RV1 and RV5 vaccines administered in standard and interchangeable mixed schedules: a randomized, double-blind, non-inferiority clinical trial in Mexican infants.
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Macías-Parra M, Vidal-Vázquez P, Reyna-Figueroa J, Rodríguez-Weber MÁ, Moreno-Macías H, Hernández-Benavides I, Fortes-Gutiérrez S, Richardson VL, and Vázquez-Cárdenas P
- Subjects
- Humans, Infant, Diarrhea virology, Immunoglobulin A, Double-Blind Method, Rotavirus Infections complications, Rotavirus Infections prevention & control, Rotavirus Vaccines adverse effects
- Abstract
Introduction: Rotavirus-associated diarrheal diseases significantly burden healthcare systems, particularly affecting infants under five years. Both Rotarix™ (RV1) and RotaTeq™ (RV5) vaccines have been effective but have distinct application schedules and limited interchangeability data. This study aims to provide evidence on the immunogenicity, reactogenicity, and safety of mixed RV1-RV5 schedules compared to their standard counterparts., Methods: This randomized, double-blind study evaluated the non-inferiority in terms of immunogenicity of mixed rotavirus vaccine schedules compared to standard RV1 and RV5 schedules in a cohort of 1,498 healthy infants aged 6 to 10 weeks. Participants were randomly assigned to one of seven groups receiving various combinations of RV1, and RV5. Standard RV1 and RV5 schedules served as controls of immunogenicity, reactogenicity, and safety analysis. IgA antibody levels were measured from blood samples collected before the first dose and one month after the third dose. Non-inferiority was concluded if the reduction in seroresponse rate in the mixed schemes, compared to the standard highest responding scheme, did not exceed the non-inferiority margin of -0.10. Reactogenicity traits and adverse events were monitored for 30 days after each vaccination and analyzed on the entire cohort., Results: Out of the initial cohort, 1,365 infants completed the study. Immunogenicity analysis included 1,014 infants, considering IgA antibody titers ≥20 U/mL as seropositive. Mixed vaccine schedules demonstrated non-inferiority to standard schedules, with no significant differences in immunogenic response. Safety profiles were comparable across all groups, with no increased incidence of serious adverse events or intussusception., Conclusion: The study confirms that mixed rotavirus vaccine schedules are non-inferior to standard RV1 and RV5 regimens in terms of immunogenicity and safety. This finding supports the flexibility of rotavirus vaccination strategies, particularly in contexts of vaccine shortage or logistic constraints. These results contribute to the global effort to optimize rotavirus vaccination programs for broader and more effective pediatric coverage. Clinical trial registration : ClinicalTrials.gov, NCT02193061., Competing Interests: PV-V and MM-P have served as consultants to MSD México on unrelated topics. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Macías-Parra, Vidal-Vázquez, Reyna-Figueroa, Rodríguez-Weber, Moreno-Macías, Hernández-Benavides, Fortes-Gutiérrez, Richardson and Vázquez-Cárdenas.)
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- 2024
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34. Differential proMMP-2 and proMMP-9 secretion in human pre-implantation embryos at day 5 of development.
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Morales-Hernández FV, Bautista-Bautista G, Acuña-González RJ, Vázquez-Cárdenas P, López-Canales JS, Lozano-Cuenca J, Osorio-Caballero M, and Flores-Herrera H
- Subjects
- Culture Media, Embryonic Development, Enzyme Precursors, Female, Gelatinases, Humans, Pregnancy, Matrix Metalloproteinase 2 metabolism, Matrix Metalloproteinase 9 metabolism
- Abstract
Morphological development is the most common non-invasive criterion used to select in vitro human embryos for implantation. With this criterion, however, embryos in cellular arrest go unnoticed. A more accurate criterion is needed to improve the success rate of implantation. Extracellular matrix metalloproteases type 2 (MMP-2) and MMP-9 are key markers of embryonic development and the implantation process, according to various animal studies. The first objective of this study was to examine proMMP-2 and proMMP-9 activity in the culture media of human embryos with good morphological development. Secondly, the results of proMMP-2 and proMMP-9 activity in the culture medium were compared between pregnant and non-pregnant. Forty-two patients were approved by the Ethics and Research Committees of the Instituto Nacional de Perinatología in México City hospital, based on institutional inclusion criteria for in vitro fertilization. On day 5 of development, embryos were transferred to patients, and the culture media secretion profile of proMMP-2 and proMMP-9 activity was determined by substrate gel zymography. After analysis of embryo sac development, each patient was assigned to the pregnant (n=17) or non-pregnant (n=25) group. Our results demonstrate that proMMP-2 was active in the culture media corresponding to all 17 women achieving full-term pregnancy and proMMP-9 in the media corresponding to 11 of these women. Contrarily proMMP-2 and proMMP-9 were active in the culture media corresponding to 3 and 11 of the 25 non-pregnant patients, respectively. The clinical implications of this study suggest the activity evaluation of proMMP-2 and proMMP-9 in embryonic culture media on day 5 of development appears to be a reliable indicator of the quality of embryos and their capacity to establish a pregnancy.
- Published
- 2022
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35. Metabolic Reprogramming in SARS-CoV-2 Infection Impacts the Outcome of COVID-19 Patients.
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Martínez-Gómez LE, Ibarra-González I, Fernández-Lainez C, Tusie T, Moreno-Macías H, Martinez-Armenta C, Jimenez-Gutierrez GE, Vázquez-Cárdenas P, Vidal-Vázquez P, Ramírez-Hinojosa JP, Rodríguez-Zulueta AP, Vargas-Alarcón G, Rojas-Velasco G, Sánchez-Muñoz F, Posadas-Sanchez R, Martínez-Ruiz FJ, Zayago-Angeles DM, Moreno ML, Barajas-Galicia E, Lopez-Cisneros G, Gonzalez-Fernández NC, Ortega-Peña S, Herrera-López B, Olea-Torres J, Juárez-Arias M, Rosas-Vásquez M, Cabrera-Nieto SA, Magaña JJ, Camacho-Rea MDC, Suarez-Ahedo C, Coronado-Zarco I, Valdespino-Vázquez MY, Martínez-Nava GA, Pineda C, Vela-Amieva M, and López-Reyes A
- Subjects
- Humans, SARS-CoV-2, Cross-Sectional Studies, Amino Acids, Phenylalanine, COVID-19, Diabetes Mellitus, Type 2
- Abstract
Severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection triggers inflammatory clinical stages that affect the outcome of patients with coronavirus disease 2019 (COVID-19). Disease severity may be associated with a metabolic imbalance related to amino acids, lipids, and energy-generating pathways. The aim of this study was to characterize the profile of amino acids and acylcarnitines in COVID-19 patients. A multicenter, cross-sectional study was carried out. A total of 453 individuals were classified by disease severity. Levels of 11 amino acids, 31 acylcarnitines, and succinylacetone in serum samples were analyzed by electrospray ionization-triple quadrupole tandem mass spectrometry. Different clusters were observed in partial least squares discriminant analysis, with phenylalanine, alanine, citrulline, proline, and succinylacetone providing the major contribution to the variability in each cluster (variable importance in the projection >1.5). In logistic models adjusted by age, sex, type 2 diabetes mellitus, hypertension, and nutritional status, phenylalanine was associated with critical outcomes (odds ratio=5.3 (95% CI 3.16-9.2) in the severe vs. critical model, with an area under the curve of 0.84 (95% CI 0.77-0.90). In conclusion the metabolic imbalance in COVID-19 patients might affect disease progression. This work shows an association of phenylalanine with critical outcomes in COVID-19 patients, highlighting phenylalanine as a potential metabolic biomarker of disease severity., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Martínez-Gómez, Ibarra-González, Fernández-Lainez, Tusie, Moreno-Macías, Martinez-Armenta, Jimenez-Gutierrez, Vázquez-Cárdenas, Vidal-Vázquez, Ramírez-Hinojosa, Rodríguez-Zulueta, Vargas-Alarcón, Rojas-Velasco, Sánchez-Muñoz, Posadas-Sanchez, Martínez-Ruiz, Zayago-Angeles, Moreno, Barajas-Galicia, Lopez-Cisneros, Gonzalez-Fernández, Ortega-Peña, Herrera-López, Olea-Torres, Juárez-Arias, Rosas-Vásquez, Cabrera-Nieto, Magaña, Camacho-Rea, Suarez-Ahedo, Coronado-Zarco, Valdespino-Vázquez, Martínez-Nava, Pineda, Vela-Amieva, López-Reyes and Mex-Gen-COVID Initiative Group.)
- Published
- 2022
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36. ACE and ACE2 Gene Variants Are Associated With Severe Outcomes of COVID-19 in Men.
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Martínez-Gómez LE, Herrera-López B, Martinez-Armenta C, Ortega-Peña S, Camacho-Rea MDC, Suarez-Ahedo C, Vázquez-Cárdenas P, Vargas-Alarcón G, Rojas-Velasco G, Fragoso JM, Vidal-Vázquez P, Ramírez-Hinojosa JP, Rodríguez-Sánchez Y, Barrón-Díaz D, Moreno ML, Martínez-Ruiz FJ, Zayago-Angeles DM, Mata-Miranda MM, Vázquez-Zapién GJ, Martínez-Cuazitl A, Barajas-Galicia E, Bustamante-Silva L, Zazueta-Arroyo D, Rodríguez-Pérez JM, Hernández-González O, Coronado-Zarco R, Lucas-Tenorio V, Franco-Cendejas R, López-Jácome LE, Vázquez-Juárez RC, Magaña JJ, Cruz-Ramos M, Granados J, Hernández-Doño S, Delgado-Saldivar D, Ramos-Tavera L, Coronado-Zarco I, Guajardo-Salinas G, Muñoz-Valle JF, Pineda C, Martínez-Nava GA, and López-Reyes A
- Subjects
- Alleles, COVID-19 virology, Diabetes Mellitus, Type 2 genetics, Diabetes Mellitus, Type 2 virology, Genotype, Humans, Male, SARS-CoV-2 pathogenicity, Angiotensin-Converting Enzyme 2 genetics, COVID-19 genetics, Peptidyl-Dipeptidase A genetics, Polymorphism, Single Nucleotide genetics
- Abstract
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the current coronavirus disease 2019 (COVID-19) pandemic, affecting more than 219 countries and causing the death of more than 5 million people worldwide. The genetic background represents a factor that predisposes the way the host responds to SARS-CoV-2 infection. In this sense, genetic variants of ACE and ACE2 could explain the observed interindividual variability to COVID-19 outcomes. In order to improve the understanding of how genetic variants of ACE and ACE2 are involved in the severity of COVID-19, we included a total of 481 individuals who showed clinical manifestations of COVID-19 and were diagnosed by reverse transcription PCR (RT-PCR). Genomic DNA was extracted from peripheral blood and saliva samples. ACE insertion/deletion polymorphism was evaluated by the high-resolution melting method; ACE single-nucleotide polymorphism (SNP) (rs4344) and ACE2 SNPs (rs2285666 and rs2074192) were genotyped using TaqMan probes. We assessed the association of ACE and ACE2 polymorphisms with disease severity using logistic regression analysis adjusted by age, sex, hypertension, type 2 diabetes, and obesity. The severity of the illness in our study population was divided as 31% mild, 26% severe, and 43% critical illness; additionally, 18% of individuals died, of whom 54% were male. Our results showed in the codominant model a contribution of ACE2 gene rs2285666 T/T genotype to critical outcome [odds ratio (OR) = 1.83; 95%CI = 1.01-3.29; p = 0.04] and to require oxygen supplementation (OR = 1.76; 95%CI = 1.01-3.04; p = 0.04), in addition to a strong association of the T allele of this variant to develop critical illness in male individuals (OR = 1.81; 95%CI = 1.10-2.98; p = 0.02). We suggest that the T allele of rs2285666 represents a risk factor for severe and critical outcomes of COVID-19, especially for men, regardless of age, hypertension, obesity, and type 2 diabetes., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Martínez-Gómez, Herrera-López, Martinez-Armenta, Ortega-Peña, Camacho-Rea, Suarez-Ahedo, Vázquez-Cárdenas, Vargas-Alarcón, Rojas-Velasco, Fragoso, Vidal-Vázquez, Ramírez-Hinojosa, Rodríguez-Sánchez, Barrón-Díaz, Moreno, Martínez-Ruiz, Zayago-Angeles, Mata-Miranda, Vázquez-Zapién, Martínez-Cuazitl, Barajas-Galicia, Bustamante-Silva, Zazueta-Arroyo, Rodríguez-Pérez, Hernández-González, Coronado-Zarco, Lucas-Tenorio, Franco-Cendejas, López-Jácome, Vázquez-Juárez, Magaña, Cruz-Ramos, Granados, Hernández-Doño, Delgado-Saldivar, Ramos-Tavera, Coronado-Zarco, Guajardo-Salinas, Muñoz-Valle, Pineda, Martínez-Nava and López-Reyes.)
- Published
- 2022
- Full Text
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37. NLRP3 Inflammasome: The Stormy Link Between Obesity and COVID-19.
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López-Reyes A, Martinez-Armenta C, Espinosa-Velázquez R, Vázquez-Cárdenas P, Cruz-Ramos M, Palacios-Gonzalez B, Gomez-Quiroz LE, and Martínez-Nava GA
- Subjects
- Animals, COVID-19 genetics, COVID-19 virology, Cytokine Release Syndrome genetics, Cytokine Release Syndrome virology, Cytokines genetics, Cytokines immunology, Diabetes Mellitus, Type 2 genetics, Diabetes Mellitus, Type 2 virology, Humans, Inflammasomes genetics, NLR Family, Pyrin Domain-Containing 3 Protein genetics, SARS-CoV-2 genetics, COVID-19 immunology, Cytokine Release Syndrome immunology, Diabetes Mellitus, Type 2 immunology, Inflammasomes immunology, NLR Family, Pyrin Domain-Containing 3 Protein immunology, SARS-CoV-2 physiology
- Abstract
Several countries around the world have faced an important obesity challenge for the past four decades as the result of an obesogenic environment. This disease has a multifactorial origin and it is associated with multiple comorbidities including type 2 diabetes, hypertension, osteoarthritis, metabolic syndrome, cancer, and dyslipidemia. With regard to dyslipidemia, hypertriglyceridemia is a well-known activator of the NLRP3 inflammasome, triggering adipokines and cytokines secretion which in addition induce a systemic inflammatory state that provides an adequate scenario for infections, particularly those mediated by viruses such as HIV, H1N1 influenza, and SARS-CoV-2. The SARS-CoV-2 infection causes the coronavirus disease 2019 (COVID-19) and it is responsible for the pandemic that we are currently living. COVID-19 causes an aggressive immune response known as cytokine release syndrome or cytokine storm that causes multiorgan failure and in most cases leads to death. In the present work, we aimed to review the molecular mechanisms by which obesity-associated systemic inflammation could cause a more severe clinical presentation of COVID-19. The SARS-CoV-2 infection could potentiate or accelerate the pre-existing systemic inflammatory state of individuals with obesity, via the NLRP3 inflammasome activation and the release of pro-inflammatory cytokines from cells trough Gasdermin-pores commonly found in cell death by pyroptosis., (Copyright © 2020 López-Reyes, Martinez-Armenta, Espinosa-Velázquez, Vázquez-Cárdenas, Cruz-Ramos, Palacios-Gonzalez, Gomez-Quiroz and Martínez-Nava.)
- Published
- 2020
- Full Text
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38. Implications of DNA Methylation in Parkinson's Disease.
- Author
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Miranda-Morales E, Meier K, Sandoval-Carrillo A, Salas-Pacheco J, Vázquez-Cárdenas P, and Arias-Carrión O
- Abstract
It has been 200 years since Parkinson's disease (PD) was first described, yet many aspects of its etiopathogenesis remain unclear. PD is a progressive and complex neurodegenerative disorder caused by genetic and environmental factors including aging, nutrition, pesticides and exposure to heavy metals. DNA methylation may be altered in response to some of these factors; therefore, it is proposed that epigenetic mechanisms, particularly DNA methylation, can have a fundamental role in gene-environment interactions that are related with PD. Epigenetic changes in PD-associated genes are now widely studied in different populations, to discover the mechanisms that contribute to disease development and identify novel biomarkers for early diagnosis and future pharmacological treatment. While initial studies sought to find associations between promoter DNA methylation and the regulation of associated genes in PD brain tissue, more recent studies have described concordant DNA methylation patterns between blood and brain tissue DNA. These data justify the use of peripheral blood samples instead of brain tissue for epigenetic studies. Here, we summarize the current data about DNA methylation changes in PD and discuss the potential of DNA methylation as a potential biomarker for PD. Additionally, we discuss environmental and nutritional factors that have been implicated in DNA methylation. Although the search for significant DNA methylation changes and gene expression analyses of PD-associated genes have yielded inconsistent and contradictory results, epigenetic modifications remain under investigation for their potential to reveal the link between environmental risk factors and the development of PD.
- Published
- 2017
- Full Text
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39. Genetic determinants for gestational diabetes mellitus and related metabolic traits in Mexican women.
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Huerta-Chagoya A, Vázquez-Cárdenas P, Moreno-Macías H, Tapia-Maruri L, Rodríguez-Guillén R, López-Vite E, García-Escalante G, Escobedo-Aguirre F, Parra-Covarrubias A, Cordero-Brieño R, Manzo-Carrillo L, Zacarías-Castillo R, Vargas-García C, Aguilar-Salinas C, and Tusié-Luna T
- Subjects
- Adult, Carrier Proteins genetics, Diabetes Mellitus, Type 2 epidemiology, Diabetes, Gestational epidemiology, Female, GTPase-Activating Proteins genetics, Genetic Association Studies, Genetic Predisposition to Disease, Humans, KCNQ1 Potassium Channel genetics, Mexico epidemiology, Monocarboxylic Acid Transporters genetics, Pregnancy, Receptor, Melatonin, MT2 genetics, Transcription Factor 7-Like 2 Protein genetics, Young Adult, Diabetes Mellitus, Type 2 genetics, Diabetes, Gestational genetics, Polymorphism, Single Nucleotide
- Abstract
Epidemiological and physiological similarities among Gestational Diabetes Mellitus (GDM) and Type 2 Diabetes (T2D) suggest that both diseases, share a common genetic background. T2D risk variants have been associated to GDM susceptibility. However, the genetic architecture of GDM is not yet completely understood. We analyzed 176 SNPs for 115 loci previously associated to T2D, GDM and body mass index (BMI), as well as a set of 118 Ancestry Informative Markers (AIMs), in 750 pregnant Mexican women. Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotype (CTTC: rs7901695, rs4506565, rs7903146, rs12243326; P=2.16 x 10(-06); OR=2.95) and a KCNQ1 haplotype (TTT: rs2237892, rs163184, rs2237897; P=1.98 x 10(-05); OR=0.55). In addition, we found two loci associated to glycemic traits: CENTD2 (60' OGTT glycemia: rs1552224, P=0.03727) and MTNR1B (HOMA B: rs1387153, P=0.05358). Remarkably, a major susceptibility SLC16A11 locus for T2D in Mexicans was not shown to play a role in GDM risk. The fact that two of the main T2D associated loci also contribute to the risk of developing GDM in Mexicans, confirm that both diseases share a common genetic background. However, lack of association with a Native American contribution T2D risk haplotype, SLC16A11, suggests that other genetic mechanisms may be in play for GDM.
- Published
- 2015
- Full Text
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40. Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population.
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Gamboa-Meléndez MA, Huerta-Chagoya A, Moreno-Macías H, Vázquez-Cárdenas P, Ordóñez-Sánchez ML, Rodríguez-Guillén R, Riba L, Rodríguez-Torres M, Guerra-García MT, Guillén-Pineda LE, Choudhry S, Del Bosque-Plata L, Canizales-Quinteros S, Pérez-Ortiz G, Escobedo-Aguirre F, Parra A, Lerman-Garber I, Aguilar-Salinas CA, and Tusié-Luna MT
- Subjects
- Calcium-Calmodulin-Dependent Protein Kinase Type 1 genetics, Cation Transport Proteins genetics, Cyclin-Dependent Kinase 5 genetics, Cyclin-Dependent Kinase Inhibitor p15 genetics, Female, Genetic Predisposition to Disease genetics, Genome-Wide Association Study, Genotype, Homeodomain Proteins genetics, Humans, KCNQ1 Potassium Channel genetics, Male, Mexico, Middle Aged, RNA-Binding Proteins genetics, Transcription Factor 7-Like 2 Protein genetics, Transcription Factors genetics, Zinc Transporter 8, tRNA Methyltransferases, Diabetes Mellitus, Type 2 genetics, Polymorphism, Single Nucleotide genetics
- Abstract
Several studies have identified nearly 40 different type 2 diabetes susceptibility loci, mainly in European populations, but few of them have been evaluated in the Mexican population. The aim of this study was to examine the extent to which 24 common genetic variants previously associated with type 2 diabetes are associated in Mexican Mestizos. Twenty-four single nucleotide polymorphisms (SNPs) in or near genes (KCNJ11, PPARG, TCF7L2, SLC30A8, HHEX, CDKN2A/2B, CDKAL1, IGF2BP2, ARHGEF11, JAZF1, CDC123/CAMK1D, FTO, TSPAN8/LGR5, KCNQ1, THADA, ADAMTS9, NOTCH2, NXPH1, RORA, UBQLNL, and RALGPS2) were genotyped in Mexican Mestizos. A case-control association study comprising 1,027 type 2 diabetic individuals and 990 control individuals was conducted. To account for population stratification, a panel of 104 ancestry-informative markers was analyzed. Association to type 2 diabetes was found for rs13266634 (SLC30A8), rs7923837 (HHEX), rs10811661 (CDKN2A/2B), rs4402960 (IGF2BP2), rs12779790 (CDC123/CAMK1D), and rs2237892 (KCNQ1). In addition, rs7754840 (CDKAL1) was associated in the nonobese type 2 diabetic subgroup, and for rs7903146 (TCF7L2), association was observed for early-onset type 2 diabetes. Lack of association for the rest of the variants may have resulted from insufficient power to detect smaller allele effects.
- Published
- 2012
- Full Text
- View/download PDF
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