Association between the CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants with vitiligo: study on a Mexican population

Abstract Background: Vitiligo is characterized by an autoimmune response targeting melanocytes, thus resulting in skin depigmentation. There are several genetic components involved in the development of vitiligo, of which various gene polymorphisms are currently considered as risk factors. For example, the CTLA4 (T-lymphocyte antigen 4) +49A/G (rs231775) and CT60 (rs3087243) gene variants have been associated with a predisposition for autoimmune diseases in different populations; however, their involvement in the development of vitiligo remains controversial. Objective: We evaluated the association between vitiligo and the CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants in a Mexican population. Methods: A total of 116 vitiligo patients and 117 control subjects from northeast Mexico were included in the study and analyzed through PCR-RFLP to determine whether there is an association between vitiligo and CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants. Results: No statistical difference was observed for both gene polymorphisms between vitiligo patients and controls (p > 0.05). Otherwise, vitiligo activity, family history of vitiligo, personal history of autoimmune diseases, or sex did not show any difference (p > 0.05). Conclusion: As suggested by the analysis of a northeastern Mexican population, the CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants do not constitute a risk factor in the development of vitiligo.

Índice TG/HDL para identificar a sujetos con síndrome metabólico en población mexicana / TG/HDL index to identify subjects with metabolic syndrome in the Mexican population

Resumen Antecedentes: El índice triglicéridos/lipoproteína de alta densidad (TG/HDL) ha sido propuesto como un indicador de riesgo cardiovascular. En México, existe un estudio en adultos jóvenes que lo relaciona con resistencia a la insulina, pero no se ha definido un punto de corte que distinga a sujetos con síndrome metabólico. Objetivo: Determinar el punto de corte para el índice TG/HDL que identifique a sujetos con síndrome metabólico en población mexicana. Métodos: El síndrome metabólico se diagnosticó mediante los criterios establecidos en el Tercer Reporte del Panel de Tratamiento para Adultos del Programa Nacional de Educación en Colesterol adaptados a la población mexicana. Para identificar el punto de corte del índice TG/HDL se utilizó el análisis de curvas ROC y el índice de Youden. Resultados: En el estudio participaron 1318 sujetos con edad de 40.9 ± 13.0 años; 65.6 % fuerin mujeres y 34.4 % hombres; 41.2% presentó síndrome metabólico. El índice TG/HDL obtuvo un valor del área bajo la curva de 0.85 y un valor óptimo de punto de corte ≥ 3.46, con sensibilidad de 79.6 % y especificidad de 76.4 %. Conclusiones: El punto de corte ≥ 3.46 para el índice TG/HDL es adecuado para identificar a sujetos con síndrome metabólico en población mexicana.

Abstract Background: The triglyceride/high-density lipoprotein (TG/HDL) index has been proposed as an indicator of cardiovascular risk. In Mexico, there is a study in young adults that relates it to insulin resistance, but no cutoff point that identifies subjects with metabolic syndrome has been defined. Objective: To determine the cutoff point for the TG/HDL index that identifies subjects with metabolic syndrome in the Mexican population. Methods: Metabolic syndrome was diagnosed using the criteria established by the Third Report of the Adult Treatment Panel of the National Cholesterol Education Program adapted to the Mexican population. To identify the TG/HDL index cutoff point, ROC curve analysis and the Youden index were used. Results: 1,318 subjects aged 40.9 ± 13.0 years participated in the study; 65.6% were women and 34.4% men; 41.2% had metabolic syndrome. The TG/HDL index obtained an area under the curve of 0.85 and an optimal cutoff point value ≥ 3.46, with a sensitivity of 79.6% and specificity of 76.4%. Conclusions: TG/HDL index cutoff point ≥ 3.46 is suitable for identifying subjects with metabolic syndrome in the Mexican population.

Fibrilación auricular en población mexicana: Diferencias en presentación, comorbilidades y factores de riesgo entre hombres y mujeres / Atrial fibrillation in Mexican population: Differences in presentation, comorbidities and risk factors between men and women

Resumen Objetivo: Conocer el comportamiento epidemiológico y asociaciones de la FA en población mexicana. Material y métodos: Analizamos 8,686 pacientes de 38 cardiólogos inscritos en REMECAR, divididos por edad y sexo. Comorbilidades estudiadas: obesidad, ERC, HTA, DM, dislipidemia, EVC, EPOC, hipotiroidismo, IC y CI. Programa: IBM SPSS. Resultados: FA en 498 pacientes (5.7%), mayor prevalencia en hombres (6.1 vs. 5.3%), mayor edad en mujeres (74.3 ± 12.1 vs. 70.5 ± 12.3 años, p < 0.0001). En mujeres menores de 60 años la FA se asoció con IC (p = 0.041), en hombres con ERC (p = 0.43), DM (p = 0.009), EVC (p = 0.001), hipotiroidismo (p = 0.001) e IC (p = 0.001). En mujeres mayores de 60 años se asoció con ERC (p = 0.001), dislipidemia (p = 0.001), EVC (p = 0.001), EPOC (p = 0.001) e IC (p = 0.001), en hombres con ERC (p = 0.002), EVC (p = 0.001), EPOC (p = 0.002), hipotiroidismo (p = 0.002), IC (p = 0.001) y CI (p = 0.033). En mujeres la FA se asoció con 1.13 veces mayor probabilidad de obesidad, 1.13 de HTA, 2.8 de ERC, 2.9 de EPOC, 4.3 de EVC y 6.5 de IC, en hombres la FA se asoció con 1.05 veces mas probabilidad de HTA, 1.4 de DM, 2.1 de ERC, 2.4 de EPOC, 3 de hipotiroidismo, 4.7 de EVC y 6 de IC. Conclusiones: La FA es una arritmia muy frecuente, con mayor prevalencia en pacientes que acuden a consulta de cardiología, en hombres y mayor edad de presentación en las mujeres. A mayor edad, mayor prevalencia de FA y de comorbilidades, la IC es la condición más frecuente con la que se asoció la FA.

Abstract Objective: To know the epidemiological behavior and associations of AF in Mexican population. Material and methods: 8,686 patients from 38 cardiologists participating in REMECAR were analyzed. They were divided by gender and age, the comorbidities studied were obesity, chronic kidney disease (CKD), high blood pressure (HBP), diabetes mellitus (DM), dyslipidemia, stroke, chronic obstructive pulmonary disease (COPD), hypothyroidism, heart failure (HF) and ischemic heart disease (IHD). Program used: IBM SPSS Statistic. Results: AF was diagnosed in 498 patients (5.7%), with higher prevalence in men (6.1% vs. 5.3%) and older age in women (74.3 ± 12.1 vs. 70.5 + -12.3 years, p<0.0001). In those under 60 years, AF was associated in women with HF, in men with CKD, DM, stroke, hypothyroidism and HF. In women older than 60 years, AF was associated with CKD, dyslipidemia, stroke, chronic COPD and HF, in men with CKD, stroke, COPD, hypothyroidism, HF and IHD. AF in women increase the probability 1.13 for obesity, 1.13 for HBP, 2.8 for CKD, 2.9 for COPD, 4.3 for stroke and 6.5 for HF, in men increase the probability 1.05 for HBP, 1.4 for DM, 2.1 for CKD, 2.4 for COPD, 3.0 for hypothyroidism, 4.7 for stroke and 6.0 for HF. Conclusions: AF is a very common arrhythmia, with a higher prevalence in patients attending the cardiology consultation, in men and with an older age of presentation in women. The older the age, the higher the prevalence of AF and comorbidities, HF is the most frequent condition associated with AF.

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population / Pérdida auditiva congénita: revisión de la etiología genética en la población mexicana

Abstract Hearing loss is the most frequent sensory disorder, with an incidence of 1:1500 live newborns. In more than 50% of patients, it is associated with a genetic cause, while in up to 30% of cases, it is related to syndromic entities. We performed a literature review of studies on congenital hearing loss of genetic origin in the Mexican population. We identified eight reports that showed that the pathogenic variants most frequently associated with hearing loss are related to the GJB2 gene, although in a low percentage (3%). Other mutations were identified in the GJB6, SLC26A4, or CHD23 genes. On this basis, a possible diagnostic strategy in Mexican patients with hearing loss is to consider an initial screening of these three genes. If these genes were negative for pathogenic variants, the following steps would be to consider second-generation sequencing analysis focused on panels of genes associated with hearing loss, isolated or syndromic, and if necessary, to perform exome or whole-genome analysis. Establishing an etiologic cause is critical in clinically evaluating patients with congenital hearing loss and their families. It can help determine rehabilitation strategies, such as hearing aids or cochlear implants and provide information on disease progression and genetic counseling in this population.

Resumen La pérdida auditiva es la alteración sensorial más frecuente, con una incidencia de 1:1500 recién nacidos vivos. En más del 50% de los pacientes se asocia con una causa genética, mientras que en más del 30% de los casos se asocia con entidades sindrómicas. Se llevó a cabo una revisión de la literatura de las investigaciones sobre la pérdida auditiva congénita de origen genético en la población mexicana. Se identificaron ocho reportes en los que se demostró que las variantes patogénicas más frecuentemente asociadas con pérdida auditiva se encuentran en el gen GJB2, aunque en un porcentaje bajo (3%). Se identificaron otras mutaciones en los genes GJB6, SLC26A4 o CHD23. Con base en esta información, una posible estrategia diagnóstica en pacientes mexicanos con pérdida auditiva es considerar un primer paso en el tamiz diagnóstico con los tres genes mencionados. Si estos genes fueran negativos para variantes patogénicas, el siguiente paso sería considerar el análisis por secuenciación de segunda generación enfocado en paneles de genes asociados con pérdida auditiva, tanto aislada como sindrómica, y en caso necesario, realizar el análisis del exoma o del genoma completo. Establecer una causa etiológica es un componente crítico en la evaluación clínica de los pacientes con pérdida auditiva congénita, ya que puede ayudar a determinar las estrategias de manejo y rehabilitación, como el uso de auxiliares auditivos o implantes cocleares, proporcionar información sobre la progresión de la enfermedad y dar asesoramiento genético en esta población.

Association of FAAH p.Pro129Thr and COMT p.Ala72Ser with schizophrenia and comorbid substance use through next-generation sequencing: an exploratory analysis

Objective: Individuals with schizophrenia and substance use disorders have a poor prognosis and increased psychiatric symptoms. The present study aimed to explore the association of 106 genes in individuals with schizophrenia and comorbid substance use through a next-generation sequencing (NGS) analysis and different in silico algorithms. Methods: We included 105 individuals diagnosed with schizophrenia and a family history of schizophrenia, of whom 49 (46.67%) presented comorbid substance use. Using NGS, we sequenced 106 genes previously associated with schizophrenia. Logistic regression models were used to assess differences in allele frequencies, and a generalized gene-set analysis was performed at the gene level. Functional annotations were performed using different algorithms and databases. Results: We identified a total of 3,109 variants, of which 25 were associated with schizophrenia and comorbid substance use and were located in regulatory and coding regions. We found low-frequency variants in COMT p.Ala72Ser, independently of p.Val158Met, that were associated with substance use. The endocannabinoid functional variant FAAH p.Pro129Thr was also associated with substance use. Conclusions: Genetic variants of genes related to dopaminergic and cannabinoid neurotransmitter systems were associated with comorbid substance use in schizophrenia. Nevertheless, more studies with larger sample sizes are needed to confirm our findings.

Propiedades psicométricas de la versión en español del Kentucky Inventory of Mindfulness Skills en población general Mexicana / Psychometric properties of the Spanish version of the Kentucky Inventory of Mindfulness Skills in Mexican general population

Resumen Introducción: Uno de los instrumentos más usados internacionalmente para medir la conciencia plena es el Kentucky Inventory of Mindfulness Skills. Debido a que esta escala no ha sido traducida ni adaptada a la lengua española, la investigación examinó la validez del constructo, su consistencia interna y validez de criterio, en una muestra mexicana. Método: La muestra estuvo conformada por 485 participantes (145 hombres y 340 mujeres). Resultados: Los resultados revelan una buena fiabilidad de la escala general, Asimismo, confirman que las cuatro dimensiones del inventario son factores sustantivos de la conciencia plena. Un análisis factorial confirmatorio muestra que los datos se ajustan de manera adecuada al modelo de cuatro factores. Conclusiones: Se concluye que este inventario es un instrumento válido y fiable para evaluar la conciencia plena en población general mexicana.

Abstract Introduction: One of the most common instruments used in the world to measure mindfulness is the Kentucky Inventory of Mindfulness Skills. Due to this scale has not been translated and adapted to Spanish, the purpose of this research was to examine the construct validity, internal consistency, and criterion validity in a Mexican sample. Method: The sample included 485 participants (145 men and 350 women). Results: Results found in this research revealed a good reliability of the general scale It was confirmed that the four dimensions of this inventory are significant factors of indfulness. Regarding the confirmatory factor analysis, results showed that data fitted properly to the four factors model. Conclusions: Inconclusion, this inventory is a valid and reliable instrument to measure mindfulness in general Mexican population.

Validación de FACIT-TS-PS en una muestra de pacientes mexicanos con cáncer / Validation of an instrument to assess health care quality (FACIT-TS-PS) in cancer patients

Resumen Introducción: La satisfacción del paciente oncológico con el equipo de salud es de relevancia para evaluar la calidad de la atención del sistema de salud. En México no se dispone de una herramienta válida y confiable para evaluar este constructo. Objetivo: Validar el Instrumento de Evaluación de Funcionalidad en el Tratamiento para Enfermedades Crónicas-Satisfacción con el Tratamiento-Satisfacción del Paciente (FACIT-TS-PS) versión 4, en pacientes mexicanos con cáncer. Método: Diseño transversal, muestreo no probabilístico, por disponibilidad. La muestra consistió en 200 pacientes diagnosticados con cáncer, con edad promedio de 45.86 ± 15.01 años. Se realizó un análisis factorial exploratorio y confirmatorio. Resultados: Se identificaron cuatro factores con un alfa de Cronbach de 0.945 y una varianza explicada de 68.15 %. El análisis factorial confirmatorio indicó que el modelo teórico propuesto se ajusta a los datos con error próximo a cero y que, además, es equilibrado y mide cuidadosamente la satisfacción global del paciente con el tratamiento. Conclusión: FACIT-TS-PS mostró ser un instrumento válido y confiable para su uso en la atención clínica e investigación dirigida a pacientes mexicanos con cáncer. Se recomienda su utilización en la evaluación de equipos de salud multidisciplinarios en oncología en México.

Abstract Introduction: Cancer patient satisfaction with the healthcare team is of great relevance for assessing the quality of the care provided by the health system. In Mexico, no valid and reliable tool is available to assess this construct. Objective: To validate the Functional Assessment of Chronic Illness Therapy-Treatment Satisfaction-Patient Satisfaction (FACIT-TS-PS) instrument, version 4, in cancer patients. Method: Cross-sectional design, non-probability convenience sampling. The sample consisted of 200 cancer-diagnosed patients, with mean age of 45.86 ± 15.01 years. Exploratory and confirmatory factor analyses were conducted. Results: The exploratory factor analysis identified four factors, with a Cronbach alpha of 0.945, and an explained variance of 68.15 %. The confirmatory factor analysis indicated that the proposed theoretical model adjusts to the data with an error close to zero and, in addition, it is balanced and carefully measures overall patient satisfaction with the treatment. Conclusion: FACIT-TS-PS was shown to be a valid and reliable instrument for use in clinical care and research in Mexican cancer patients. Its use is recommended in the evaluation of oncology multidisciplinary healthcare teams in Mexico.

Advanced paternal age as a risk factor for autism spectrum disorder in a Mexican population / Edad paterna avanzada como factor de riesgo para el trastorno del espectro autista en una población mexicana

Abstract Introduction Risk factors for autism spectrum disorders (ASD) have been identified, as is the case of advanced parental age. Advanced parental age as an ASD risk factor has been studied in Scandinavian populations; there are no reports for Mexican children. Objective The present work aim is to analyze if advanced parental age is a risk factor for ASD in a Mexican children sample. Method Mexican children (N = 1 068) participated in a case-control study, 162 had an ASD diagnosis. Multivariate logistic regression adjusted by cofounders was performed to explore the effect of paternal age on ASD risk. Results Advanced paternal age in Mexican children increases the risk for ASD, and also, a difference of 10 years between parental ages have a higher risk. Discussion and conclusion The effect of advanced paternal age in Mexican children was lower than those reported previously for other populations. Advanced paternal age and difference between parental ages could be a risk factor for ASD in Mexican population. Nevertheless, the analysis of larger sample sizes is required.

Resumen Introducción Se han identificado algunos factores de riesgo para el trastorno del espectro autista (TEA) como es el caso de la edad parental avanzada. La edad parental avanzada es un factor de riesgo que ha sido muy explorado en poblaciones escandinavas; sin embargo, no existen reportes en niños de ascendencia mexicana. Objetivo El presente trabajo tiene el objetivo de analizar si la edad parental avanzada es un factor de riesgo para TEA en una muestra de niños mexicanos. Método Un total de 1 068 niños de la Ciudad de México se incluyeron en un estudio de casos-controles, de los cuáles 162 contaban con diagnóstico de TEA. Regresiones logísticas multivariable, ajustadas por confusores, se realizaron para explorar el efecto de la edad parental avanzada en el riesgo para TEA. Resultados La edad paterna avanzada en niños mexicanos aumentó el riesgo para TEA; también, una diferencia de edad de 10 años entre los padres presenta un mayor riesgo. Discusión y conclusión El efecto de la edad paterna avanzada en los niños mexicanos fue mucho más bajo que aquella reportada para otras poblaciones. La edad paterna avanzada y la diferencia entre la edad parental puede ser un factor de riesgo para TEA en población mexicana. Sin embargo, se requieren análisis en poblaciones con mayor tamaño de muestra.

Development of the Mexican Version of the Empathy Quotient / Desarrollo de la versión mexicana del Cuestionario de Empatía

Abstract Introduction Empathy is defined as the ability or process to identify and understand other person's situation, feelings, and motives. These responses are essential for relationships and social behavior. Baron-Cohen et al. created the Empathy Quotient (EQ), a scale explicitly designed to have a clinical application. The instrument evaluates three constructs of empathy and several studies around worldwide, but not in Mexico. Objective To examine the psychometric properties and the factor congruence of the EQ in a community sample from Mexico City. Method Cronbach´s alpha coefficient and a correspondence factorial analysis was performed to test the relation between response options and factors from the Exploratory Factor Analysis 200 adults without Axis I disorders through the MINI, filled out the Spanish version of the short version (28-items) of the EQ. An exploratory factor analysis was performed while reliability was tested with Cronbach's alpha. In addition, correspondence factorial analysis and the factor congruence coefficient were determined. Results Five items were eliminated from the original 28-item EQ. From the 23 remaining items, only 16 were grouped in the three original proposed dimensions (cognitive empathy: 8 items, emotional reactivity: 4 items and social skills: 3 items), while one item showed communality with a different domain from the one originally proposed. Reliability was adequate (.82) as well as the congruence coefficients (.76 to .99). Discussion and conclusion The EQ Mexican 16-item version is a good tool to assess empathy in a Mexican population.

Resumen Introducción La empatía es definida como la capacidad para identificar y comprender las situaciones, sentimientos y motivaciones de otra persona. Estas respuestas son esenciales para relaciones y comportamientos sociales. Baron-Cohen et al. crearon el cociente de empatía (EQ), una escala diseñada para tener aplicación clínica. El instrumento evalúa tres constructos de empatía y ha probado sus propiedades psicométricas con resultados adecuados en varios estudios mundiales, pero no en México. Objetivo El propósito de este estudio fue examinar las propiedades psicométricas y la congruencia factorial del EQ en una muestra mexicana. Método El alpha de Cronbach y el análisis factorial fueron aplicados para probar la relación entre las opciones de respuesta y los factores en 200 adultos sin diagnóstico, a través de la entrevista MINI. Se utilizó la versión corta en español del EQ y se realizó un análisis factorial exploratorio dónde se probó la confiabilidad con el alfa de Cronbach y se determinó adecuada correspondencia y congruencia factorial. Resultados Se eliminaron cinco reactivos de la escala original de 28 reactivos. De los 23 reactivos restantes, solo 16 se agruparon en las tres dimensiones originales (empatía cognitiva: 8 reactivos, reactividad emocional: 4 reactivos y habilidades sociales: 3 reactivos) mientras que un reactivo mostró una comunalidad con un dominio diferente del original. La confiabilidad fue (.82), así como los coeficientes de congruencia (.76 a .99). Discusión y conclusión La versión del EQ es una buena herramienta para evaluar la empatía en población mexicana.

Factors influencing achievement of low-density lipoprotein cholesterol goals in mexico: the international cholesterol management practice study

ABSTRACT Background The International Cholesterol Management Practice Study is a multinational collaborative effort to describe the effectiveness of the lipid-lowering therapy (LLT) as well as the main barriers to achieve the low-density lipoprotein cholesterol (LDL-C) goals Objective The objective of the study was to investigate factors associated with the achievement of LDL-C goals in Mexico using real-life data Methods This was a cross-sectional observational study from 18 physicians across different health facilities in Mexico, who provided information about their practices between August 2015 and August 2016. We included patients treated for ≥3 months with any LLT in whom LDL-C measurement on stable LLT was available for the previous 12 months Results We included 623 patients with a mean age of 59.3 ± 12.7 years; 55.6% were women. The mean LDL-C value on LLT was 141.8 ± 56.1 mg/dL. At enrollment, 97.4% of patients were receiving statin therapy (11.3% on high-intensity treatment). Only 24.8% of the very-high cardiovascular (CV) risk patients versus 26.4% of the high risk and 52.4% of the moderate risk patients achieved their LDL-C goals. Independent factors associated with non-achievement of LDL-C goal were statin intolerance, overweight and obesity, abdominal obesity, female sex, high CV risk, use of public health-care service, metabolic syndrome, type 2 diabetes, and hypertriglyceridemia. Higher-level of education was associated with a lower risk of not achieving LDL-C goals Conclusions Achievement of LDL-C goals is suboptimal in Mexico, especially in patients with the highest CV risk. The main barriers to achieve the goal are easily detectable. Implementation of LLT should be adapted to the patient’s needs and profile.

Adaptación de la Lista Checable de Trastorno por Estrés Postraumático para DSM-5 en Población Mexicana / Adaptation of the Posttraumatic Stress Disorder Checklist for DSM-5 in Mexican Population

Resumen La Lista Checable de Trastorno por Estrés Postraumático (PCL) ha sido una de las escalas más aplicadas en el ámbito clínico, misma que ha sido adaptada recientemente a los criterios del DSM-5 (PCL-5). Considerando la problemática que representa el TEPT en la población y los cambios recientes propuestos en el DSM-5, resulta importante contar con escalas validadas en México con base a los nuevos criterios diagnósticos descritos. El presente trabajo describe las propiedades psicométricas para la validación en población mexicana de la PCL-5, donde se contó con 204 estudiantes universitarios del sistema abierto de la UNAM, de 18 a 59 años, reclutados a través de una plataforma virtual. Los resultados mostraron una adecuada consistencia interna (.97), así como una validez convergente apropiada (rs = .58 a .88). A su vez, se realizaron distintos análisis factoriales exploratorios y confirmatorios donde se obtuvieron ajustes adecuados a los modelos planteados en el DSM-5 y estudios previos de la escala original. Se concluye que la escala es válida y confiable en población mexicana, lo que la convierte en el único instrumento adaptado al DSM-5 para la evaluación del TEPT en dicho contexto. Sin embargo, se recomiendan estudios adicionales con un mayor control sobre distintos tipos de trauma para mejor descripción del constructo.

Abstract The Posttraumatic Stress Disorder Checklist (PCL) has been one of the most applied scales in the clinical field, which has been recently adapted to the DSM-5 criteria (PCL-5). Considering the problems posed by PTSD in the population and the recent changes proposed in the DSM-5, it is important to have validated scales in Mexican population based on the new diagnostic criteria described. The present work describes the psychometric properties for the validation in Mexican population of the PCL-5, where 204 students from open and distance learning university between 18 and 59 years old participated, recruited through a virtual platform. The results showed an adequate internal consistency (.97), as well as an appropriate convergent validity (rs=.58 to .88). At the same time, different exploratory and confirmatory factor analyses were conducted, where appropriate adjustments to the models proposed in the DSM-5 and previous studies of the original scale were obtained. We conclude that the scale is valid and reliable in the Mexican population, which makes it the only instrument adapted to the DSM-5 for the evaluation of PTSD in this context. However, additional studies with greater control over different types of trauma are recommended for a better description of the construct.

Morfometría y variantes anatómicas del tronco celíaco en población mexicana / Morphometry and anatomical variants of the celiac trunk in Mexican population

RESUMEN: Las variantes anatómicas del tronco celíaco (TC) son relevantes en el ámbito quirúrgico e intervencionista. Existen diferentes estudios a nivel mundial que han demostrado las variaciones que puede presentar el TC tanto en longitud como en estructura; dichos estudios han sido realizados predominantemente en población asiática y europea. Por lo anterior, realizamos un estudio que caracterizó esta estructura y que sea referente para la población mexicana. Se analizó una muestra de 50 especímenes cadavéricos humanos embalsamados de origen mexicano. El promedio de longitud del TC a su primera rama fue de 12,44 mm; de su origen a la segunda rama fue de 17,07 mm; y hasta la tercera fue de 19,15 mm. En la muestra de estudio se encontraron variantes en el 20 % de los especímenes, de éstos el 14 % presentaron variantes morfométricas en cuanto a longitud y 6 % en estructura. Respecto a las variantes morfométricas, destacó la presencia de un TC de 3 mm de longitud. En cuanto a las variantes morfológicas dos individuos presentaron un tronco gastro-esplénico con tronco hepato-mesentérico; y el tercero un tronco bifurcado hepato-gástrico con la arteria esplénica naciendo de la arteria hepática común. Éste último no reportado en la literatura.

SUMMARY: Anatomical variants in the celiac trunk (CT) are important in surgical and interventional fields. Studies worldwide have demonstrated length and structure variations in the celiac trunk. These studies have predominantly been carried out in Asian and European population. Therefore, we considered it necessary to realize a study to describe this structure and serve as a reference in the Mexican population. A sample of 50 human cadaveric specimens of Mexican origin was analyzed. The average length of the celiac trunk from its origin to its first branch was 12.44 mm, to the second branch was 17.07 mm, and to the third branch was 19.15 mm. In the studied sample, variants were found in 20 % of the specimens, 14 % of these presented morphometric variations in terms of length, and 6 % in terms of structure. In reference to the morphometric variants, the presence of one 3 mm length CT was noteworthy. Morphological variants were found in two specimens presenting a gastro-splenic trunk with a hepatomesenteric trunk, and a third specimen with hepatogastric bifurcated trunk, with the splenic artery originating from the common hepatic artery was observed. No reports were found in the literature concerning the latter.

Effect of the polymorphism BDNF rs6265 G/A in Mexican outpatient children with autism spectrum disorders / Efecto del polimorfismo rs6265 G/A del gen BDNF en niños mexicanos ambulatorios con trastornos del espectro autista

Abstract: Introduction: The study of autistic spectrum disorders (ASD) at the genetic level is extremely important to understand their origin. In Mexico, there are few works addressed from this perspective. Objective: We investigated the role of the Brain Derived Neurotrophic Factor (BDNF) gene variant rs6265 G/A for single nucleotide polymorphism analysis in Mexican children with ASD using a case-control association design. Method: We made a pilot study by case-control analysis adjusting by gender, age, and ancestry. Results: Our study found no association between the BDNF rs6265 gene polymorphism and ASD [p = .419, OR = 1.597 (.514, 4.967)] Discussion and conclusion: Worldwide, the results of case-control association studies with the rs6265 of BDNF are controversial and do not always replicate. This may be due to the ethnicity of our population and additional factors not studied in the present work. Our study suggests that the SNP rs6265 is not contributing for ASD susceptibility in Mexican population.

Resumen: Introducción: El estudio de los trastornos del espectro autista a nivel genético es de suma importancia para entender su origen. En México existen pocos trabajos abordados desde esta perspectiva. Objetivo: Investigamos el papel de la variante del gen rs6265 G/A del factor neurotrófico derivado del cerebro (BDNF) para el análisis del polimorfismo de un solo nucleótido en niños mexicanos con TEA por medio de un diseño de asociación de casos y controles. Método: Realizamos un estudio piloto mediante un análisis de casos y controles ajustando por género, edad y ancestría. Resultados: Nuestro estudio no encontró asociación entre el polimorfismo del gen BDNF rs6265 y TEA [p = .419, OR = 1.597 (.514, 4.967)]. Discusión y conclusión: A nivel mundial, los resultados de estudios de asociación caso-control con el rs6265 de BDNF son controvertidos y no siempre se replican. Esto puede deberse a la etnicidad de nuestra población y a otros factores no estudiados en el presente trabajo. El estudio sugiere que el SNP rs6265 no contribuye a la susceptibilidad al TEA en población mexicana.

Tratamiento periodontal no quirúrgico en pacientes con gingivitis y periodontitis moderada. Respuesta bioquímica y microbiológica / Non surgical periodontal treatment in patients with gingivitis and moderate periodontitis. Biochemical and microbiological response

Objetivo: Conocer la respuesta inflamatoria a través de la presencia de interleucina 1β e identificar microorganismos patógenos como posibles marcadores inmunológicos y microbiológicos en el diagnóstico y tratamiento periodontal no quirúrgico en sujetos con gingivitis y periodontitis crónica moderada en población mexicana. Material y métodos: En este estudio prospectivo de cohortes, se seleccionaron 18 pacientes con signos clínicos de gingivitis y 17 pacientes con periodontitis crónica moderada, se recolectaron las muestras de biopelícula subgingival y de fluido gingival crevicular. Se cuantificó la interleucina 1β durante las fases pretratamiento, postratamiento y de mantenimiento del tratamiento periodontal no quirúrgico. Resultados: Las variables de respuesta microbiológica mostraron que Porphyromonas gingivalis, Prevotella intermedia, Fusobacterium nucleatum, Aggregatibacter actinomycetemcomitans disminuyeron significativamente en individuos con gingivitis. Así como Porphyromonas gingivalis, Tannerella forsythia, Fusobacterium nucleatum, Aggregatibacter actinomycetemcomitans y Actinomyces sp. en periodontitis crónica moderada. Las variables de respuesta bioquímica mostraron una disminución significativa en la concentración y cuenta total de interleucina 1β en los individuos con periodontitis crónica moderada en la fase de mantenimiento del tratamiento así como de las variables de respuesta clínica. Conclusión: Hay reducción de los niveles de interleucina 1β con la disminución de la microflora. Los niveles de interleucina 1β son marcadores sensibles para el diagnóstico y severidad de la enfermedad periodontal.

Objective: To ascertain inflammatory response through interleucina 1β presence and identify pathogenic microorganisms as possible immunological and microbiological markers in diagnosis and treatment non-surgical periodontal in patients with gingivitis and moderate chronic periodontitis in a sample of Mexican population. Material and methods: In the present prospective cohort study, 18 patients with signs of gingivitis and 17 patients with moderate chronic periodontitis were selected. Samples of subgingival biofilm and of crevicular gingival fluid were collected. Interleukine 1β was quantified during the pre-treatment, post-treatment and maintenance phases of the nonsurgical periodontal treatment. Continuous variables were analyzed with the Student test, as well as categorical variables which were analyzed with the TurkeyKramer test. For independent groups the Pearson test was used. Results: Microbiological response variables showed that Porphyromonas gingivalis, Prevotella intermedia , Fusobacterium nucleatum , Aggregatibacter actinomycetemcomitans significantly decreased in subjects with gingivitis. Porphyromonas gingivalis , Tannerella forsythia , Fusobacterium nucleatum , Aggregatibacter actinomycetemcomitans and Actinomyces ssp . decreased in cases. Biochemical response variables showed significant decrease in IL-1β concentration and total count in individuals with moderate chronic periodontitis in treatment maintenance phase. The same result applied to clinical response variables. Conclusions: There is a decrease in Interleukin 1β levels with decrease in microflora. Interleukin 1β are sensitive markers for diagnosis of periodontal disease and assessment of its severity.

Propiedades psicométricas de la Escala Hospitalaria de Ansiedad y Depresión (HADS) en una población de pacientes oncológicos mexicanos / Psychometric properties of the Hospital Anxiety and Depression Scale (HADS) in a Mexican population of cancer patients

ANTECEDENTES: La sintomatología ansiosa y depresiva es parte de los principales problemas de salud mental en pacientes oncológicos, lo cual afecta la calidad de vida y la adhesión al tratamiento, además de que se asocia con mayor número de síntomas y estancia hospitalaria. Mediante instrumentos de tamizaje válidos y confiables, como la Escala hospitalaria de ansiedad y depresión (HADS), ha sido posible detectar posibles casos en pacientes hospitalarios. Sin embargo, hasta ahora no se habían caracterizado las propiedades psicométricas en pacientes oncológicos en población mexicana.OBJETIVO: Determinar las propiedades psicométricas de la HADS en una muestra de pacientes oncológicos.MÉTODO: Participaron 400 pacientes del Instituto Nacional de Cancerología, de los cuales 226 eran mujeres (56.5%) y 174 eran hombres (43.6%); la edad promedio fue de 47.4 ± 14.1 años. Los participantes contestaron, además de la HADS, los siguientes inventarios: depresión de Beck, ansiedad de Beck, termómetro de distrés.RESULTADOS: Un análisis factorial ajustado a dos factores presentó un instrumento con 12 reactivos, similar a la versión original. La consistencia interna de la escala global mostró un índice satisfactorio (a=0.86). Los alfas de Cronbach de cada subescala tuvieron un valor de .79 y .80 que explicaron el 48.04% de la varianza. La validez, por medio de correlación con las medidas concurrentes, mostró resultados significativos (r de Pearson de .51 a .71, p<0.05).DISCUSIÓN Y CONCLUSIÓN: La HADS en pacientes con cáncer en población mexicana presentó adecuadas características psicométricas. La relevancia de los resultados obtenidos radica en que se trata de una población que puede llegar a requerir atención oportuna en salud mental en etapas tempranas de su tratamiento. La detección de sintomatología ansiosa y depresiva por medio de la HADS deriva en beneficios para la población oncológica y en estrategias funcionales de atención adecuada y costo-efectivas.

BACKGROUND: Symptoms of anxiety and depression are among the major mental health problems in cancer patients. These symptoms affect the quality of life and treatment adherence, and are associated with other symptoms and longer hospital stays. Valid and reliable screening instruments such as the Hospital Anxiety and Depression Scale (HADS), have made possible the detection of possible cases of depression and anxiety in medically ill patients. However, the psychometric properties of this instrument have not been documented in different types of cancer diagnoses in the Mexican population.OBJECTIVE: To determine the psychometric properties of the HADS in a sample of patients with cancer from the Mexican population.METHOD: Four hundred patients from the National Cancer Institute participated, of which 226 were women (56.5%) and 174 men (43.6%), with a mean age of 47.4 ±14.1 years. Participants completed concurrently the HADS as well as the following inventories: 1. Beck Depression, 2. Beck Anxiety and 3. Distress Thermometer.RESULTS: A factor analysis adjusted to two factors explained 48.04% of the variance, with 12 items loading on these two factors in a way similar to the original version. The internal consistency of the overall scale was satisfactory (α=0.86). Cronbach's alphas for each subscale were .79 and .80. The concurrent validity assessed by way of correlations with concurrent measures showed significant associations (Pearson r=51-71, p<0.05).DISCUSSION AND CONCLUSION: The HADS has adequate construct validity, internal consistency and concurrent validity for its use in cancer patients from the Mexican population. The relevance of these results is a cost effective tool to provide timely mental health care early in oncological treatment for those in need. Detecting anxiety and depression symptoms through the HADS may benefit cancer patients by ensuring appropriate care that may increase their quality of life and treatment adherence, and reduce their hospital stays.

Association study between the MDR1 gene and clinical characteristics in schizophrenia

Objective: Schizophrenia is a complex psychiatric disorder, characterized by disturbed patterns of thought and affecting 0.3-2.0% of the world population. Previously, the multidrug resistance 1 (MDR1) gene has been associated with schizophrenia in treatment response studies in psychotic patients. The aim of this study was to determine the association between MDR1 gene polymorphisms and clinical characteristics in patients with schizophrenia. Methods: Positive and negative symptoms of schizophrenia were assessed with the Scale for the Assessment of Negative Symptoms (SANS) and the Scale for the Assessment of Positive Symptoms (SAPS) in 158 Mexican patients with schizophrenia. Analyses of MDR1 gene polymorphisms were performed using TaqMan technology. A multivariate ANOVA was performed with MDR1 polymorphisms and gender as independent variables. Results: Males with the G/G genotype of MDR1 rs2032582 presented significantly higher levels of delusions (p = 0.02). When comparing female vs. male groups, the difference was statistically significant (p = 0.0003). Analyses of the MDR1 gene rs1045642 variant showed no significant differences. Conclusion: Our findings suggest that male carriers of the G allele of variant rs2032582 exhibit greater severity of delusions; however, these results should be taken as preliminary, and replication studies in other populations of different ethnic origins are required to confirm these findings. .

Intron 4 VNTR (4a/b) Polymorphism of the Endothelial Nitric Oxide Synthase Gene Is Associated with Breast Cancer in Mexican Women

The endothelial nitric oxide synthase (eNOS) gene plays an important role in several biological functions. Polymorphisms of the eNOS gene have been associated with cancer. It has been suggested that the VNTR 4 a/b polymorphism may affect the expression of eNOS and contributes to tumor promotion in the mammary gland. We examined the role of the eNOS4 a/b polymorphism by comparing the genotypes of 281 healthy Mexican women with the genotypes of 429 Mexican women with breast cancer (BC). The observed genotype frequencies for control and BC patients were 0.6% and 0.7% for a/a (polymorphic); 87% and 77% for a/a (wild type); and 12% and 22% for a/b respectively. We found that the odds ratio (OR) was 1.9, with a 95% confidence interval (95%CI) of 1.29-2.95, P = 0.001 for genotypes a/a-a/b, b/c. The association was also evident when comparing the distribution of the a/a-a/b genotypes in patients with high levels of glutamate-oxaloacetate transaminase (SGOT) (OR, 1.93; 95% CI, 1.14-3.28; P = 0.015); undergoing menopause with high levels of SGOT (OR, 2.0; 95% CI, 1.1-3.84); and with high levels of glutamic-pyruvic transaminase (SGPT) (OR, 3.5; 95% CI, 1.56-8.22). The genotypes a/a-a/b are associated with BC susceptibility in the analyzed samples from the Mexican population.

The Development and Initial Validation of the Estimation and Frequency of Food Intake Scale / Desarrollo y Validación Inicial de la Escala Estimación y Consumo de Alimento (ECA)

One way to contribute to solving problems related to eating behavior is to develop valid and reliable instruments to measure estimation and food consumption frequency in Mexican population. The present study describes the development and initial validation of the estimation and food intake scale (ECA, for its Spanish acronym). The first version comprised 143 items in a Likert-type scale with five options each one and it was applied to 432 participants from Jalisco State, Mexico City and Mexico State. According to item-total correlation 32 items were selected and reliability analysis yielded a Cronbach alpha of .92 and .90 to estimation and frequency of food intake consumption respectively. Factor analysis only for estimation section yielded a six-factor structure which explained 53.3% of the total variance and reliability indices ranged between .55 and .76. The mean of food estimation showed that food was considered unhealthy and were consumed once a month. It is necessary to modify the current version of the scale and applied to a wider and heterogeneous sample.

Una forma de contribuir a la solución de los problemas relacionados con la conducta alimentaria es desarrollar instrumentos válidos y confiables para medir estimación y consumo de alimento en población mexicana. En el presente estudio se describe la construcción de la escala Estimación y Consumo de Alimento (ECA). La primea versión de la ECA quedó conformada por 143 reactivos con cinco opciones de respuesta tipo Likert y se aplicó a un total de 432 participantes del Estado de Jalisco, Distrito Federal y Estado de México. Considerando la correlación reactivo-total se seleccionaron 32 reactivos, el análisis de confiabilidad mostró una consistencia interna de .92 y .90 respectivamente a estimación y frecuencia de consumo. El análisis factorial de la sección de estimación arrojó una estructura de seis factores que explicaron el 53.3 % de la varianza y los índices de confiabilidad variaron entre .55 y .76. La media de estimación mostró que los participantes juzgaron los alimentos como poco saludables y se consumieron una vez al mes. Es necesario mejorar conceptualmente la versión actual del instrumento y aplicar en muestras de otros estados la versión más refinada de la escala ECA.

Evaluación de la percepción materna del peso del hijo y de la heredabilidad del IMC en diadas mestizas del Sureste de México

Estudio descriptivo correlacional. Los objetivos fueron: 1) evaluar la percepción materna del peso del hijo mediante dos pruebas percepción por palabras (PP) e índice de masa corporal del hijo percibido por la madre (IMCP), 2) Evaluar sensibilidad y especificidad de las pruebas y 3) Cuantificar la heredabilidad (h2) del índice de masa corporal (IMC) en 173 diadas (madre-hijo). La PP fue valorada por la pregunta ¿cómo cree que su hijo esta? Para valorar el IMCP, la madre refirió peso y talla del hijo y se calculó el IMC del hijo percibido por la madre. Se midió peso y talla a madres e hijos. Se encontró que 10.3% de madres de hijos con sobrepeso (SP) y 1.8% de madres de hijos con obesidad (OB) los percibieron de forma adecuada por la prueba (PP) y por la prueba IMCP el 38.5% y 67.3% de madres de hijos con SP y OB respectivamente. La sensibilidad de PP fue 5.3% y especificidad 29.1%. La sensibilidad de IMCP fue 55.3% y especificidad 54.4%. La h2 del IMC fue de 15%. Se concluye que las madres no perciben el SP-OB de sus hijos y que el cuestionar a la madre peso y talla del hijo (IMCP) podría ayudar a percibir el SP-OB del hijo. La h2 del IMC indica que los factores del estilo de vida en esta población contribuyen al SP-OB. Dada la amplia diversidad socio-económica y cultural, estos resultados de Campeche deberán de ser validados con diseños similares de estudio.

Descriptive correlational study. The objectives were the following: 1) evaluate maternal perception of her child’s weight through two test, Word-perception (WP) test and the Body mass index (BMI) of the child as perceived by the mother (Body weight index perception [BWIP]); 2) evaluate the sensitivity and specificity of the tests, and 3) quantify BMI heritability (h2) in 173 mother-child dyads. WP was assessed by asking the question, How do you think your child is? For assessing BWIP, the mother referred the child’s weight and height, and we calculated the child’s BMI as perceived by the mother. The weight and height of the mothers and their children were measured. We found that 10.3% of mothers of children with Overweight (OW) and 1.8% of mothers of children with Obesity (OB) perceived their children adequately by means of WP; by means of the BWIP test, 38.5 and 67.3% of mothers of children with OW and OB, respectively, exhibited adequate perception. BWIP sensitivity was 55.3% and specificity was 54.4%. BWI h2 was 15%. We was concluded that mothers did not perceive the OW-OB of their children, and that asking the mother for the weight and height of the child (BMIP) will aids her to perceive the OW-OB of her child. The BWI h2 indicate that the lifestyle factors of this population contribute to OW-OB. Given the broad socioeconomic and cultural diversity, these results of the southeastern Mexican state of Campeche should be evaluated with similar study designs.

Relación del polimorfismo TaqI del gen del receptor de la vitamina D con la lepra lepromatosa en población mexicana / Association between the TaqI polymorphism of Vitamin D Receptor gene and lepromatous leprosy in a Mexican population sample

OBJETIVO: Determinar la relación del polimorfismo TaqI del gen del receptor de la vitamina D (RVD) con la lepra lepromatosa (LL) en individuos originarios de Sinaloa, México. MATERIAL Y MÉTODOS: Se amplificó un fragmento de 740 pb del gen RVD en muestras de ADN de 71 pacientes con LL y 144 controles en el Hospital General de Culiacán durante el periodo 2004-2007. El polimorfismo se identificó mediante la endonucleasa TaqI. RESULTADOS: Se observó un aumento de relevancia estadística del genotipo TT en pacientes con LL en comparación con los controles (p= 0.040; RM= 1.82). CONCLUSIÓN: Se demuestra un nexo entre el genotipo TT y la susceptibilidad a la LL.

OBJETIVE: To establish the association of the vitamin D receptor gene TaqI polymorphism with lepromatous leprosy (LL) in individuals from Sinaloa, Mexico. MATERIAL AND METHODS: A 740 bp fragment was amplified from the VDR gene in DNA samples of 71 patients with LL and 144 controls in the Hospital General de Culiacán during 2004-2007. Polymorphism was identified through TaqI endonuclease. RESULTS: A significant increase in the genotype TT of the VDR gene was observed in patients when compared to controls (p = 0.040; OR = 1.82). CONCLUSIONS: Our data support the association between the TT genotype and susceptibility to LL in this Mexican population.