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Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis. Results: We found that MoIDS had a significantly higher risk for the MTHFR 677TT genotype (adjusted odds ratio [aOR] = 3.4, 95% confidence interval [95% CI]: 1.1-10.6), and the MTHFR 677T allele (aOR = 1.5, 95% CI: 1.0-2.3), particularly in MoIDS <35 years of age. Conclusions: Our findings indicate that the presence of the 677TT genotype and 677T allele of the MTHFR 677C>T variant are maternal risk factors for DS in Mexican MoIDS.
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Alelos , Síndrome de Down , Predisposição Genética para Doença , Genótipo , Metilenotetra-Hidrofolato Redutase (NADPH2) , Mães , Polimorfismo de Nucleotídeo Único , Humanos , Síndrome de Down/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , México/epidemiologia , Feminino , Adulto , Lactente , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Predisposição Genética para Doença/genética , Estudos de Casos e Controles , Frequência do Gene/genética , Masculino , Gravidez , Razão de Chances , Recém-NascidoRESUMO
OBJECTIVE: This retrospective study aimed to perform the first external validation of the ACR/EULAR classification criteria for inflammatory myopathy (IIM) in a Mexican dynamic cohort where the patients were evaluated with clinical and laboratory values. As secondary objectives, we presented the clinical characteristics of the patients and included antibodies other than anti Jo1 to evaluate their impact on our population. METHODOLOGY: This study included 70 patients with IIM and 70 patients with differential diagnoses of IIM, according to the absolute score of the classification criteria. We obtained sensitivity and specificity in the modality without biopsy, and as an exploratory analysis, we added other antibodies from the myositis extended panel. We analyzed the area under the curve (AUC) of three models: score without antibodies, with anti Jo1 and with any antibody. RESULTS: The ACR/EULAR criteria showed increased specificity and at least similar sensitivity to that of the original cohort (85% sensitivity and 92% specificity), with a cohort point of >55%. When we classified patients into definite, probable, possible, and no IIM categories, by adding the extended myopathy panel, 6 of the 10 patients initially classified as "no IIM" changed their classification to "Probable IIM" and 4 to "Definite IIM"; of the 16 patients classified as "probable IIM," 15 changed their classification to "Definite IIM." CONCLUSION: Considering the limitations of this study, we concluded that the 2017 EULAR/ACR criteria for IIM classification are sensitive and specific for classifying patients with IIM in the Mexican population. Additionally, the addition of antibodies other than anti-Jo1 may improve performance in certain populations.
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Autoanticorpos , Miosite , Humanos , Estudos Retrospectivos , Miosite/diagnóstico , Biópsia , Sensibilidade e EspecificidadeRESUMO
Indigenous peoples around the world face significant health disparities relative to the dominant groups in their countries, yet the magnitude and patterns of health disparities vary across countries. We use data from the National Health Interview Survey and Mexican Family Life Survey to examine the health of Indigenous peoples in Mexico and American Indians and Alaska Natives in the USA and to evaluate how they fare relative to the majority populations in their countries (non-Indigenous Mexicans and non-Hispanic Whites, respectively). We assess disparities in self-rated health and activity limitations, with a focus on how Indigenous health disparities intersect with educational gradients in health. Regression analyses reveal three primary findings. First, Indigenous health disparities are larger in the USA than in Mexico. Second, differences in educational attainment account for most of the differences between Indigenous and non-Indigenous populations in Mexico, but less than half in the USA. Third, in both countries, health is moderated by educational attainment such that between-group disparities are largest at the highest levels of education. However, for Indigenous Mexicans there is a "cross-over" in which Indigenous Mexicans report better health at the lowest level of education. Overall, this study finds a weak relationship between education and Indigenous health, and raises the question about the validity of using traditional measures of SES in Indigenous contexts.
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BACKGROUND: Childhood cancer is one of the primary causes of disease-related death in 5- to 14-year-old children and currently no prevention strategies exist to reduce the incidence of this disease. Childhood cancer has a larger hereditary component compared with cancer in adults. Few genetic studies have been conducted on children with cancer. Additionally, Latin American populations are underrepresented in genomic studies compared with other populations. Therefore, the aim of this study is to analyze germline mutations in a group of mixed-ancestry Mexican pediatric patients with solid and hematological cancers. METHODS: We analyzed genetic variants from 40 Mexican childhood cancer patients and their relatives. DNA from saliva or blood samples was used for whole-exome sequencing. All variants were identified following GATK best practices. RESULTS: We found that six patients (15%) were carriers of germline mutations in CDKN2A, CHEK2, DICER1, FANCA, MSH6, MUTYH, NF1, and SBDS cancer predisposition genes, and additional new variants predicted to be deleterious by in silico algorithms. A population genetics analysis detected five components consistent with the demographic models assumed for modern mixed-ancestry Mexicans. CONCLUSIONS: This report identifies potential genetic risk factors and provides a better understanding of the underlying mechanisms of childhood cancer in this population.
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Mutação em Linhagem Germinativa , Neoplasias , População Norte-Americana , Adulto , Humanos , Criança , Pré-Escolar , Adolescente , Predisposição Genética para Doença , Neoplasias/genética , Sequenciamento do Exoma , Ribonuclease III , RNA Helicases DEAD-boxRESUMO
OBJECTIVE: To determine the incidence of salivary gland tumors in a population of a tertiary hospital in the State of Mexico, and to describe demographic variables. METHOD: An observational, cross-sectional and retrospective study of salivary gland tumors reported in a tertiary hospital in the State of Mexico in the period 2008-2019 is presented. RESULTS: A prevalence of 0.049% was found. There was no difference between sex in the studied population. Benign salivary gland tumors were the most frequent (86.7%). The age range most affected was 51-60 years. The most frequently found tumor was the pleomorphic adenoma, followed by Warthin's tumor. There was 13.33% of sialolipomas, and one myoepithelioma. There were no cases of sublingual gland tumors or minor salivary glands. CONCLUSION: Tumors of the major salivary glands are infrequent tumors; population cases from a central Mexican state and their demographic characteristics are presented to contribute to the information found in local and international literature.
OBJETIVO: Determinar la incidencia de los tumores de glándulas salivales en una población de un hospital de tercer nivel en el Estado de México y describir variables demográficas. MATERIAL Y MÉTODOS: Se presenta un estudio observacional, transversal y retrospectivo de los tumores de glándulas salivales reportados en un hospital de tercer nivel en el Estado de México en el periodo 2008-2019. RESULTADOS: Se encontró una prevalencia del 0.049%. No hubo diferencia entre sexos en la población afectada. Los tumores de glándulas salivales benignos fueron los más frecuentes (86.7%). El rango de edad mayormente afectado fue el de 51-60 años. El tumor más frecuentemente encontrado fue el adenoma pleomorfo, seguido por tumor de Warthin. Se presentó un 13.33% de sialolipomas y un mioepitelioma. No se presentó ningún caso de tumores de glándulas sublinguales ni glándulas salivales menores. CONCLUSIÓN: Los tumores de glándulas salivales mayores son tumores infrecuentes, se exponen casos de población de un Estado del centro de México y sus características demográficas para contribuir a la información encontrada en literatura local e internacional.
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Neoplasias das Glândulas Salivares , Humanos , Adulto , Pessoa de Meia-Idade , México/epidemiologia , Centros de Atenção Terciária , Estudos Transversais , Incidência , Estudos Retrospectivos , Neoplasias das Glândulas Salivares/epidemiologiaRESUMO
This research investigated Latinx and Indigenous Mexican caregivers' perspectives of the Salton Sea's environment (e.g., dust concentrations and other toxins) on child health conditions. The Salton Sea is a highly saline drying lakebed located in the Inland Southern California desert borderland region and is surrounded by agricultural fields. Children of Latinx and Indigenous Mexican immigrant families are especially vulnerable to the Salton Sea's environmental impact on chronic health conditions due to their proximity to the Salton Sea and structural vulnerability. From September 2020 to February 2021, we conducted semi-structured interviews and focus groups with a total of 36 Latinx and Indigenous Mexican caregivers of children with asthma or respiratory distress living along the Salton Sea. A community investigator trained in qualitative research conducted interviews in Spanish or Purépecha, an indigenous language spoken by immigrants from Michoacán, Mexico. Template and matrix analysis was used to identify themes and patterns across interviews and focus groups. Participants characterized the Salton Sea's environment as toxic, marked by exposure to sulfuric smells, dust storms, chemicals, and fires, all of which contribute to children's chronic health conditions (e.g., respiratory illnesses such as asthma, bronchitis, and pneumonia, co-presenting with allergies and nosebleeds). The findings have important environmental public health significance for structurally vulnerable child populations in the United States and globally.
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Asma , Cuidadores , Hispânico ou Latino , Criança , Humanos , Asma/epidemiologia , Asma/etnologia , Asma/etiologia , Poeira , México/etnologia , California/epidemiologia , Indígenas Norte-AmericanosRESUMO
Resumen El Sentido del Humor (SH) es considerado un fenómeno universal, pero al mismo tiempo culturalmente específico pues cada grupo posee particularidades que modulan la forma en la éste se percibe y conceptualiza. Aunque el trabajo empírico en torno al fenómeno es amplio, éste se ha centrado en la creación de escalas que miden estilos particulares de humor o ciertos dominios humorísticos, dejando de lado el interés por explorar lo más fundamental, es decir, las percepciones y significados generales del humor. Dado lo anterior, el presente trabajo tuvo por objetivos: 1) explorar el significado atribuido al SH por hombres y mujeres, 2) desarrollar un instrumento válido y confiable para adultos mexicanos, 3) examinar la invarianza de la medición de dicho instrumento en función del sexo de los participantes e 4) identificar posibles diferencias entre hombres y mujeres al respecto de los factores de la medida validada. Los resultados mostraron la obtención de tres categorías que son congruentes con los factores obtenidos en la escala diseñada. En cuanto a sus características resultó una escala válida y confiable, que mostró equivalencia entre los sexos.
Abstract The Sense of Humor (SH) is considered a universal phenomenon, but at the same time culturally specific, since each group has particularities that modulate the way in which it is perceived and conceptualized. Although the empirical work around the phenomenon is extensive, it has focused on the creation of scales that measure styles of humor or certain humorous domains, leaving aside the interest in exploring what is most fundamental, that is, the general perceptions and meanings of humor. humor. Given the above, the present work had the objectives: 1) to explore the meaning attributed to SH by men and women, 2) to develop a valid and reliable instrument for Mexican adults, 3) to examine the invariance of the measurement of said instrument based on the gender and 4) identify possible differences between genders regarding the factors of the validated measure. The results showed the obtaining of three categories that are consistent with the factors obtained in the designed scale. Regarding its characteristics, it was a valid and reliable scale, which showed equivalence between genders.
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This study aimed to explore the role of telomere length in three different diabetes types: latent autoimmune diabetes of adulthood (LADA), latent autoimmune diabetes in the young (LADY), and type 2 diabetes mellitus (T2DM). A total of 115 patients were included, 72 (62.61%) had LADA, 30 (26.09%) had T2DM, and 13 (11.30%) had LADY. Telomere length was measured using real-time Polymerase Chain Reaction. For statistical analysis, we used the ANOVA test, X2 test, and the Mann-Whitney U test. Patients with T2DM had higher BMI compared to LADA and LADY groups, with a BMI average of 31.32 kg/m2 (p = 0.0235). While the LADA group had more patients with comorbidities, there was not a statistically significant difference (p = 0.3164, p = 0.3315, p = 0.3742 for each of the previously mentioned conditions). There was a difference between those patients with T2DM who took metformin plus any other oral antidiabetic agent and those who took metformin plus insulin, the ones who had longer telomeres. LADA patients had shorter telomeres compared to T2DM patients but not LADY patients. Furthermore, T2DM may have longer telomeres thanks to the protective effects of both metformin and insulin, despite the higher BMI in this group.
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DNA methylation (DNAm) is a plausible mechanism underlying cardiometabolic abnormalities, but evidence is limited among youth. This analysis included 410 offspring of the Early Life Exposure in Mexico to Environmental Toxicants (ELEMENT) birth cohort followed up to two time points in late childhood/adolescence. At Time 1, DNAm was quantified in blood leukocytes at long interspersed nuclear elements (LINE-1), H19, and 11ß-hydroxysteroid dehydrogenase type 2 (11ß-HSD-2), and at Time 2 in peroxisome proliferator-activated receptor alpha (PPAR-α). At each time point, cardiometabolic risk factors were assessed including lipid profiles, glucose, blood pressure, and anthropometry. Linear mixed effects models were used for LINE-1, H19, and 11ß-HSD-2 to account for the repeated-measure outcomes. Linear regression models were conducted for the cross-sectional association between PPAR-α with the outcomes. DNAm at LINE-1 was associated with log glucose at site 1 [ß = -0.029, p = 0.0006] and with log high-density lipoprotein cholesterol at site 3 [ß = 0.063, p = 0.0072]. 11ß-HSD-2 DNAm at site 4 was associated with log glucose (ß = -0.018, p = 0.0018). DNAm at LINE-1 and 11ß-HSD-2 was associated with few cardiometabolic risk factors among youth in a locus-specific manner. These findings underscore the potential for epigenetic biomarkers to increase our understanding of cardiometabolic risk earlier in life.
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OBJECTIVES: This study investigated whether the effects of specific types of group and individual leisure activities on depressive symptoms differ for older men and women in Mexico and whether several indicators of physical health can shape the psychological benefits of these activities. METHODS: This study used data from two waves (2012 and 2015) of the Mexican Health and Aging Study and employed OLS regressions. RESULTS: The association between leisure activities and depressive symptoms among older Mexicans may vary by the type of activity, gender, and physical health. Physical health issues may decrease potential psychological benefits of certain leisure activities. Yet, despite deteriorating physical health, older adults may benefit from involvement in some leisure activities. DISCUSSION: This study highlights the diversity of experiences related to later-life mental health and emphasizes the importance of investigating psychological implications of specific types of leisure activities among older men and women with different physical health concerns.
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Depressão , Atividades de Lazer , Masculino , Humanos , Feminino , Idoso , Depressão/epidemiologia , Depressão/psicologia , México , Atividades de Lazer/psicologia , Envelhecimento/psicologiaRESUMO
BACKGROUND: The enrollment into clinical trials of persons at risk for autosomal dominant Alzheimer's disease (ADAD) in whom the onset of disease can be accurately predicted facilitates the interpretation of outcomes (e.g., biomarkers, treatment efficacy). Attitudes toward involvement in such studies are biased by intrinsic cultural and social characteristics. Our objective was to study how demographic factors such as country of residence, age, sex, schooling, parenthood, and urbanization affect attitudes towards participation in hypothetical clinical trials in Mexican families at risk for ADAD living either in Mexico or in the United States. METHODS: Participants were 74 members of different families known to harbor an ADAD mutation living in Mexico (n = 50) or in the United States (n = 24). Participants were asked, in a written questionnaire, their interest in participating in four hypothetical clinical trial scenarios of increasing perceived invasiveness. The questionnaire then asked about their willingness should there be a 50% chance of being assigned to a placebo group. The influences of demographic variables on decisions were performed using Wilcoxon rank-sum for continuous variables and Fisher's exact test for categorical variables. RESULTS: Participants who live in Mexico, who have or plan to have children, who do not attend or do not plan to attend school, and who live in rural areas gave more positive responses regarding their willingness to participate compared to those living in the U.S. The 50% chance of being in a placebo group increased the willingness to participate for family members living in Mexico. The main reason for participation was to help future generations, while the main reasons for refusal were not wanting to undergo genetic testing and consideration of adverse effects. CONCLUSIONS: We found a higher level of willingness to participate in clinical trials among persons living in rural Mexico and our data suggest that altruism towards future generations is a major motivation, though this was balanced against concerns regarding side effects. Our results emphasize the importance of sharing information and assessing its understanding in potential participants with diverse backgrounds in the nature of ADAD and regarding the design of clinical trials prior to their enrollment in such studies.
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Doença de Alzheimer , Americanos Mexicanos , Criança , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/terapia , Atitude , México , Estados UnidosRESUMO
Strength and muscle mass are important determinants of health status, and reference values for pediatric populations from every country or geographic region are needed. The aim of this study was to develop age- and sex-specific reference values of muscle strength and evaluate the correlation between muscle strength and appendicular lean mass in Mexican children and adolescents. A cross-sectional study was conducted in 1111 healthy subjects ages 5 to 19 years of age participating in the "Body Composition Reference Values in Mexican Children and Adolescents" study. Smoothed reference values for the 1, 3, 5, 15, 25, 50, 75, 85, 95, 97, and 99 percentiles of muscle strength for upper and lower limbs were developed based on age and sex using Jamar® and Microfet2® dynamometers. Mean values were derived using the Generalized Additive Models for Location, Scale and Shape (GAMLSS), and lean mass was determined using dual-energy X-ray absorptiometry. Highly positive correlations of muscle strength with lean mass in upper limbs were found r-values 0.87-0.92 for boys and r = 0.80-0.86 for girls. High and moderate positive correlations for lower limbs were also noted for upper limbs: r = 0.74-0.86 for boys and r = 0.67-0.82 for girls. The reference values for appendicular muscle strength established in this study demonstrated a high and positive correlation between appendicular mass and muscle strength. These data will be useful when evaluating conditions and diseases affecting muscle or sports.
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Composição Corporal , Força Muscular , Criança , Masculino , Feminino , Humanos , Adolescente , Pré-Escolar , Adulto Jovem , Adulto , Valores de Referência , Estudos Transversais , Absorciometria de Fóton , Composição Corporal/fisiologia , Músculos , Músculo Esquelético/fisiologia , Índice de Massa CorporalRESUMO
BACKGROUND: A novel coronavirus, SARS-CoV-2 (known as COVID-19), spread rapidly around the world, affecting all and creating an ongoing global pandemic. Across the United States, Latinx and Indigenous populations have been disproportionately affected by COVID-19 cases and death rates. An examination of the perceptions and beliefs about the spread of the virus, COVID-19 testing, and vaccination amongst racial-ethnic minority groups, specifically Latinx and Indigenous Latin American immigrant communities, is needed to alleviate the widespread disparity in new cases and deaths. METHODS: This study was carried out from August 2020 to January 2021 and used community-based participatory research to engage community partners and build the capacity of community health workers (i.e., promotores de salud) and pre-medical and medical students in conducting qualitative research. The objective of the study was to examine the structural and social determinants of health on perceptions of the coronavirus, its spread, and decisions around COVID-19 testing and vaccination. Data collection included ethnography involving observations in public settings and focus groups with members of Latinx and Indigenous Mexican farm-working communities in the Eastern Coachella Valley, located in the Inland Southern California desert region. A total of seven focus groups, six in Spanish and one in Purépecha, with a total of 55 participants were conducted. Topics covered include perceptions of the coronavirus and its spread, as well as COVID-19 testing and vaccination. RESULTS: Using theme identification techniques, the findings identify structural and social factors that underly perceptions held by Latinx and Indigenous Mexican immigrants about the virus and COVID-19, which, in turn, shape attitudes and behaviors related to COVID-19 testing and vaccination. Common themes that emerged across focus groups include misinformation, lack of trust in institutions, and insecurity around employment and residency. CONCLUSIONS: This immigrant population is structurally vulnerable to historical and present-day inequalities that put them at increased risk of COVID-19 exposure, morbidity, and mortality. Study findings indicate a significant need for interventions that decrease structural vulnerabilities by addressing issues of (dis)trust in government and public health among this population.
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COVID-19 , Emigrantes e Imigrantes , COVID-19/diagnóstico , COVID-19/epidemiologia , COVID-19/prevenção & controle , Teste para COVID-19 , Etnicidade , Humanos , Grupos Minoritários , SARS-CoV-2 , Estados Unidos , VacinaçãoRESUMO
There is limited evidence for the effects of diet on cardiometabolic profiles during the pubertal transition. We collected repeated measures of diet quality and cardiometabolic risk factors among Mexican youth. This analysis included 574 offspring of the Early Life Exposure in Mexico to Environmental Toxicants (ELEMENT) birth cohort followed up to three time points. Dietary Approaches to Stop Hypertension (DASH), alternate Mediterranean Diet (aMedDiet), and Children's Dietary Inflammatory Index (C-DIITM) scores were computed from food frequency questionnaires. Higher DASH and aMedDiet scores reflect a higher diet quality, and lower C-DII scores reflect an anti-inflammatory diet. Cardiometabolic risk factors were lipid profile, glucose homeostasis, blood pressure, and waist circumference. Linear mixed models were used between quartiles of each diet score and outcomes. Compared to the first quartile, the fourth DASH quartile was inversely associated with log serum insulin (µIU/mL) [ß = -0.19, p = 0.0034] and log-Homeostatic Model Assessment of Insulin Resistance [ß = -0.25, p = 0.0008]. Additionally, log serum triglycerides (mg/dL) was linearly associated with aMedDiet score [ß = -0.03, p = 0.0022]. Boys in the highest aMedDiet quartile had higher serum high-density lipoprotein cholesterol (mg/dL) [ß = 4.13, p = 0.0034] compared to the reference quartile. Higher diet quality was associated with a better cardiometabolic profile among Mexican youth.
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Doenças Cardiovasculares , Dieta Mediterrânea , Abordagens Dietéticas para Conter a Hipertensão , Adolescente , Pressão Sanguínea , Fatores de Risco Cardiometabólico , Doenças Cardiovasculares/epidemiologia , Criança , Dieta , Humanos , Masculino , México/epidemiologia , Fatores de Risco , Circunferência da CinturaRESUMO
Primary hypertriglyceridemia (PHTG) is characterized by a high concentration of triglycerides (TG); it is divided between familial hyperchylomicronemia syndrome and multifactorial chylomicronemia syndrome. In Mexico, hypertriglyceridemia constitutes a health problem in which the genetic bases have been scarcely explored; therefore, our objective was to describe biochemical-clinical characteristics and variants in the APOA5, GPIHBP1, LMF1, and LPL genes in patients with primary hypertriglyceridemia. Thirty DNA fragments were analyzed using PCR and Sanger sequencing in 58 unrelated patients. The patients' main clinical-biochemical features were hypoalphalipoproteinemia (77.6%), pancreatitis (18.1%), and a TG median value of 773.9 mg/dL. A total of 74 variants were found (10 in APOA5, 16 in GPIHBP1, 34 in LMF1, and 14 in LPL), of which 15 could be involved in the development of PHTG: 3 common variants with significative odds and 12 heterozygous rare pathogenic variants distributed in 12 patients. We report on the first Mexican patient with hyperchylomicronemia syndrome due to GPIHBP1 deficiency caused by three variants: p.R145*, p.A154_G155insK, and p.A154Rfs*152. Moreover, eleven patients were heterozygous for the rare variants described as causing PHTG and also presented common variants of risk, which could partially explain their phenotype. In terms of findings, two novel genetic variants, c.-40_-22del LMF1 and p.G242Dfs*10 LPL, were identified.
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Hiperlipoproteinemia Tipo I , Hipertrigliceridemia , Receptores de Lipoproteínas , Humanos , Lipase Lipoproteica/genética , México , Hiperlipoproteinemia Tipo I/genética , Hiperlipoproteinemia Tipo I/patologia , Hipertrigliceridemia/genética , Triglicerídeos , Receptores de Lipoproteínas/genéticaRESUMO
Aim: To evaluate the genetic distribution of the rs4149056 and rs2306283 variants in the SLCO1B1 gene in Mexican Mestizo (admixed) and Native American groups. Materials & methods: We recruited 360 volunteers who were qPCR-genotyped with TaqMan probes. Results: Allele and genotype frequencies are reported. Among the expected rs4149056-rs2306283 haplotypes, T-A (42.35-58.47%) was the most prevalent which relates to the normal activity of the OATP1B1 transporter. This was followed by the T-G haplotype associated with further statin transport and cholesterol reduction (32.49-43.76%). Conclusion: Based on these SLCO1B1 gene variants, we confirmed that a minimum fraction of the Mexican study populations would be at risk from decreasing simvastatin transport and the development of statin-induced myopathy.
Lay abstract The clinical response to statins, mainly atorvastatin and simvastatin, can be modified by interindividual variability including variations in the SLCO1B1 gene. This gene, that encodes the statin transporter OATP1B1, helps to regulate the cholesterol levels in the blood and is responsible for the presence of adverse drug reactions related to the statin consumption, such as muscular sickness. This study analyzes the distribution of the SLCO1B1 gene variants rs4149056 and rs2306283 in geographically dispersed samples of the two main populations in Mexico: two Mestizo (admixed) populations and three Native American groups. We found that the genetic combinations of TA and TG for the two SLCO1B1 gene variants associated with normal or efficient activity of the transporter OATP1B were predominant in all of the study population. Therefore, the SLCO1B1 gene variability suggests that a majority of the Mexican population will respond favorably to simvastatin and have a low risk of developing associated muscular complications.
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Inibidores de Hidroximetilglutaril-CoA Redutases , Doenças Musculares , Haplótipos/genética , Humanos , Transportador 1 de Ânion Orgânico Específico do Fígado/genética , Polimorfismo de Nucleotídeo Único/genética , PrevalênciaRESUMO
Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. However, since we have the highest worldwide frequency of homozygotes for the MTHFR C677T variant, we cannot rule out that our propensity for NTDs may be related to how such gene variant interacts with other factors, mainly with our secular patterns of inappropriate folate intake.
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Metilenotetra-Hidrofolato Redutase (NADPH2) , Defeitos do Tubo Neural , Alelos , Ácido Fólico , Genótipo , Humanos , Lactente , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , México/epidemiologia , Defeitos do Tubo Neural/genéticaRESUMO
Resumen Los objetivos primarios del presente estudio fueron determinar la validez de constructo, convergente y discriminante de la Escala Breve de Optimismo Interactivo-G (EBOI-G), en participantes de seis estados de México y calcular su consistencia interna. Participaron 3 289 mexicanos, 2 028 hombres y 1 243 mujeres (18 casos no contestaron cuál era su género). Su edad promedio = 30.43 años, DE = 10.52. Se usó el análisis factorial confirmatorio y análisis de regresión múltiple, y se encontraron buenos indicadores promedio de bondad de ajuste (e. g., CFI = .99; RMSEA = .07.). Se evaluó la validez convergente, r (3 289) = .52 (p = < .01; d = mediano), con la Escala de Satisfacción con la Vida. Se estimó la validez discriminante, r (3 289) r = -.19, con la Escala Breve de Disposición a la Ira (p = < .01; d = casi pequeño). El alfa = .70 (3 289); p = < .01; el omega = .76. Se concluye que hay evidencia parcial nacional que apoya el uso de la EBOI-G, debido a la carencia de una medida de este tipo en México, útil cuando menos para propósitos de investigación.
Abstract The primary objectives of this study were determining the construct, convergent, and discriminant validity of the Brief Interactive Optimism Scale-G (BIOS-G) in participants from six states of Mexico and estimating its internal consistency. In this study 3289 Mexicans participated (2028 men and 1243 women). The average age was = 30.43 years and SD = 10.52. Confirmatory factor analysis (CFA) and multiple regression analysis (MRA) were applied. There were appropriate fit indexes (e. g., CFI = .99; RMSEA = .07.). Convergent validity showed an r (3289) = .52 (p = < .01; d = medium), with the Satisfaction with Life Scale (SWLS) and the estimation of discriminant validity was r (3 289) r = -.19 with the Brief Scale for Assessing Anger Proneness (APS-G) (p = < .01; d = almost small), Alpha = .70 (3 289); p = < .01; omega = .76. The conclusion is that there is partial national evidence supporting the use of BIOS-G, because Mexico lacks a measure of this kind, being useful, at least, for research purposes.
Resumo Os objetivos primários do estudo foram determinar a validade convergente e discriminante do construto da Escala Breve de Otimismo Interativo-G (EBOI-G), em participantes de seis estados do México e calcular sua consistência interna. Participaram 3 289 mexicanos, sendo 2 028 homens e 1 243 mulheres. A média de idade foi = 30.43 anos, DP = 10.52. Foram utilizadas análises fatoriais confirmatórias e análises de regressão múltipla. Bons indicadores médios de qualidade de ajuste foram encontrados (por exemplo, CFI = .99; RMSEA = .07.) A validade convergente foi avaliada, r (3 289) = .52 (p = <.01; d = mediana), com a Escala de satisfação com a vida. A validade discriminante, r (3 289) = -.19 foi estimada com a Escala Breve de Disposição à Raiva (p = <.01; d = quase pequeno). O alfa = 0,70 (3 289); p = <0,01; o ômega = 0,76. Conclui-se que há evidências nacionais parciais que apoiam o uso da EBOI-G, devido à falta de uma medida desse tipo no México, sendo útil pelo menos para fins de pesquisa.
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Humanos , Adulto , Otimismo , Psicometria , Psicopatologia , Saúde MentalRESUMO
INTRODUCTION: Metabolic Syndrome (MS) is a construct relating to a series of metabolic dysfunctions attributable to insulin resistance and obesity. Here, we estimate the incidence of MS according to their individual components using a Mexican open-population cohort. METHODS: We evaluated data of 6144 Mexicans amongst whom 3340 did not have MS either by IDF or ATP-III definitions using data from an open-population cohort. We estimated the incidence of MS and each of its traits after a median follow-up of 2.24 (IQR 2.05-2.58) years and evaluated risk factors for MS incidence and each of its traits. We also explored individuals without any MS trait to evaluate trait and MS incidence after follow-up. RESULTS: We observed a high incidence of MS-IDF (115.11 cases per 1000 person-years, 95% CI 107.76-122.47), followed by MS-ATP-III (75.77 cases per 1000 person-years, 95% CI). The MS traits with the highest incidence were low HDL-C and abdominal obesity, which was consistent for subjects without MS and those without any MS trait. When assessing predictors of MS incidence, obesity, insulin resistance, and increased apolipoprotein B levels predicted MS incidence. Weight loss >5% of body weight and physical activity were the main protective factors. Obesity was a main determinant for incident MS traits in our population, with weight loss being also a protective factor for most MS traits. CONCLUSION: We observed a high incidence of MS in apparently healthy Mexican adults. Low HDL-C and abdominal obesity were the most frequent incident MS traits, with obesity being the main determinant of its incidence.
RESUMO
BACKGROUND: Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease. METHODS: This study included 84 FHTG cases, 728 subjects with common mild-to-moderate hypertriglyceridemia (CHTG) and 609 normotriglyceridemic controls. All subjects underwent genetic, clinical and biochemical assessments. A set of 53 single nucleotide polymorphisms (SNPs) previously associated with triglycerides levels, as well as 37 rare variants within the five main genes associated with hypertriglyceridemia (i.e. LPL, APOC2, APOA5, LMF1 and GPIHBP1) were analyzed. A panel of endocrine regulatory proteins associated with triglycerides homeostasis were compared between the FHTG and CHTG groups. RESULTS: Apolipoprotein B, fibroblast growth factor 21(FGF-21), angiopoietin-like proteins 3 (ANGPTL3) and apolipoprotein A-II concentrations, were independent components of a model to detect FHTG compared with CHTG (AUC 0.948, 95%CI 0.901-0.970, 98.5% sensitivity, 92.2% specificity, P < 0.001). The polygenic set of SNPs, accounted for 1.78% of the variance in triglyceride levels in FHTG and 6.73% in CHTG. CONCLUSIONS: The clinical and genetic differences observed between FHTG and CHTG supports the notion that FHTG is a unique entity, distinguishable from other causes of hypertriglyceridemia by the higher concentrations of insulin, FGF-21, ANGPTL3, apo A-II and lower levels of apo B. We propose the inclusion of these parameters as useful markers for differentiating FHTG from other causes of hypertriglyceridemia.