Análisis de desempeños cognitivos y polimorfismos en SORL, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU y BIN1 en pacientes con trastorno neurocognitivo leve y en sujetos cognitivamente sanos / Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls

Introducción: Los polimorfismos de riesgo para el desarrollo de enfermedad de Alzheimer (se han estudiado en pacientes con demencia, pero aún no se han explorado en trastorno neurocognitivo leve (TNL) en nuestra población, ni se han considerado en relación con variables cognitivas, las cuales pueden ser biomarcadores predictivos de enfermedad.ObjetivoEvaluar los desempeños cognitivos y los polimorfismos en los genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE(isoformas ɛ2, ɛ3, ɛ4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN(rs744373), CLU (rs227959 y rs11136000) en pacientes con TNL y en sujetos sanos.MetodologíaEstudio descriptivo, exploratorio y transversal, en una cohorte prospectiva de participantes seleccionados mediante muestreo no probabilístico, evaluados por neurología, neuropsicología y genética, y clasificados como cognitivamente sanos y pacientes con TNL, según criterios. La cognición se evaluó por medio de la batería Neuronorma y se analizó en relación con las variantes polimórficas por medio de medidas de tendencia, intervalos de confianza y estadísticos no paramétricos.ResultadosSe identificaron diferencias en los desempeños en tareas de lenguaje y memoria en relación con las variantes de BIN1, CLU y CR1, junto con tendencias en las variantes de PICALM, GWArs, SORL y PVRL2, mientras que en APOE y TOMM40 no se encontraron tendencias.DiscusiónLas tendencias en los desempeños cognitivos en relación con variantes polimórficas podrían indicar que, en ausencia de demencia, los mecanismos que regulan estos genes podrían tener un efecto sobre la cognición; sin embargo, esta aproximación tiene un carácter exploratorio y sus resultados permiten generar hipótesis que requieren ser exploradas en muestras de mayor tamaño. (AU)

Introduction: Alzheimer disease risk polymorphisms have been studied in patients with dementia, but have not yet been explored in mild cognitive impairment (MCI) in our population; nor have they been addressed in relation to cognitive variables, which can be predictive biomarkers of disease.ObjectiveTo evaluate cognitive performance and presence of polymorphisms of the genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE (isoforms ɛ2, ɛ3, ɛ4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN1(rs744373), and CLU (rs227959 and rs11136000) in patients with MCI and healthy individuals.MethodologyWe performed a cross-sectional, exploratory, descriptive study of a prospective cohort of participants selected by non-probabilistic sampling, evaluated with neurological, neuropsychological, and genetic testing, and classified as cognitively healthy individuals and patients with MCI. Cognition was evaluated with the Neuronorma battery and analysed in relation to the polymorphic variants by means of measures of central tendency, confidence intervals, and nonparametric statistics.ResultsWe found differences in performance in language and memory tasks between carriers and non-carriers of BIN1, CLU, and CR1 variants and a trend toward poor cognitive performance for PICALM, GWAS_14q, SORL1, and PVRL2 variants; the APOE and TOMM40 variants were not associated with poor cognitive performance.DiscussionDifferences in cognitive performance associated with these polymorphic variants may suggest that the mechanisms regulating these genes could have an effect on cognition in the absence of dementia; however, this study was exploratory and hypotheses based on these results must be explored in larger samples. (AU)

Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls.

INTRODUCTION: Alzheimer disease risk polymorphisms have been studied in patients with dementia, but have not yet been explored in mild cognitive impairment (MCI) in our population; nor have they been addressed in relation to cognitive variables, which can be predictive biomarkers of disease. OBJECTIVE: To evaluate cognitive performance and presence of polymorphisms of the genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE (isoforms ε2, ε3, ε4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN1(rs744373), and CLU(rs227959 and rs11136000) in patients with MCI and healthy individuals. METHODOLOGY: We performed a cross-sectional, exploratory, descriptive study of a prospective cohort of participants selected by non-probabilistic sampling, evaluated with neurological, neuropsychological, and genetic testing, and classified as cognitively healthy individuals and patients with MCI. Cognition was evaluated with the Neuronorma battery and analysed in relation to the polymorphic variants by means of measures of central tendency, confidence intervals, and nonparametric statistics. RESULTS: We found differences in performance in language and memory tasks between carriers and non-carriers of BIN1, CLU, and CR1 variants and a trend towards poor cognitive performance for PICALM, GWAS_14q, SORL1, and PVRL2 variants; the APOE and TOMM40 variants were not associated with poor cognitive performance. DISCUSSION: Differences in cognitive performance associated with these polymorphic variants may suggest that the mechanisms regulating these genes could have an effect on cognition in the absence of dementia; however, this study was exploratory and hypotheses based on these results must be explored in larger samples.

Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls. / Análisis de desempeños cognitivos y polimorfismos en SORL, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU y BIN1 en pacientes con trastorno neurocognitivo leve y en sujetos cognitivamente sanos.

INTRODUCTION: Alzheimer disease risk polymorphisms have been studied in patients with dementia, but have not yet been explored in mild cognitive impairment (MCI) in our population; nor have they been addressed in relation to cognitive variables, which can be predictive biomarkers of disease. OBJECTIVE: To evaluate cognitive performance and presence of polymorphisms of the genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE (isoforms ɛ2, ɛ3, ɛ4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN1(rs744373), and CLU (rs227959 and rs11136000) in patients with MCI and healthy individuals. METHODOLOGY: We performed a cross-sectional, exploratory, descriptive study of a prospective cohort of participants selected by non-probabilistic sampling, evaluated with neurological, neuropsychological, and genetic testing, and classified as cognitively healthy individuals and patients with MCI. Cognition was evaluated with the Neuronorma battery and analysed in relation to the polymorphic variants by means of measures of central tendency, confidence intervals, and nonparametric statistics. RESULTS: We found differences in performance in language and memory tasks between carriers and non-carriers of BIN1, CLU, and CR1 variants and a trend toward poor cognitive performance for PICALM, GWAS_14q, SORL1, and PVRL2 variants; the APOE and TOMM40 variants were not associated with poor cognitive performance. DISCUSSION: Differences in cognitive performance associated with these polymorphic variants may suggest that the mechanisms regulating these genes could have an effect on cognition in the absence of dementia; however, this study was exploratory and hypotheses based on these results must be explored in larger samples.

Trastorno neurocognitivo leve en el climaterio con Evaluación Cognitiva Montreal / Mild neurocognitive disorder in the climacteric with Montreal Cognitive Assessment

Las mujeres en climaterio o transición menopáusica frecuentemente reportan quejas de memoria. El Estudio Esmeralda busca relacionar los Síntomas del Climaterio (SC) femenino en sus diferentes etapas: premenopausia (etapa -2, temprana de la transición menopáusica), perimenopausia (etapas -1 y +1ª, tardía de la transición menopáusica y temprana de postmenopausia) y postmenopausia (etapas +1b, +1c y +2, temprana de postmenopausia con tardía de postmenopausia), con posible deterioro del funcionamiento intelectual, que pudiera llevar a sospechar de Trastorno Neurocognitivo leve (TNCl). La muestra final quedó conformada por 100 mujeres con alto nivel de escolaridad entre 40 y 60 años de edad. Se realizó un estudio no experimental transversal con muestreo no probabilístico, utilizando la Evaluación Cognitiva Montreal (MoCA). Se obtuvieron resultados normativos en 43.27% de la muestra y Deterioro Cognitivo Leve (DCL) en 56.73%, encontrando diferencia de medias significativas al nivel 0.05 en las tres etapas de climaterio, resultando la mayor incidencia en perimenopausia, etapa de mayor disminución de estrógenos. Se concluye que cambios en la función intelectual, pueden estar asociados a variación hormonal. Se puede determinar TNCl en forma temprana, en busca de una atención primaria y puesta en marcha de reactivación de funciones intelectuales.

Women in the climacteric stage or menopausal transition, frequently report complaint in memory. Emerald Study search relate feminine climacteric syndrome in their different steps: premenopause (stage -2 early menopausal transition), perimenopause (stages -1 and +1a late menopausal transition and early postmenopause) and postmenopause (stages +1b, +1 c and +2 early postmenopause with late postmenopause), with a possible mild cognitive impairment, that carry on suspect of Mild Neurocognitve Disorder (mNCD). The final sample were 100 women with high schooling level between 40 and 60 years old. A nonexperimental, non-probability cross-sectional study was conducted through the Montreal Cognitive Assessment (MoCA). Normative results were obtained in 43.27% and mNCD in 56.73%, finding difference of significant means at the 0.05 level in the three stages of climacteric, resulting in the highest incidence in perimenopause, stage of greatest decrease in estrogen. It is concluded that changes in intellectual function may be associated with hormonal variation. mNCD can be determined early, in search of primary care and start-up of reactivation of intellectual functions.

Síntomas psicológicos en la transición menopáusica / Psychological symptoms in the menopausal transition

RESUMEN OBJETIVO: Conocer los síntomas en la Transición Menopáusica, mediante el autoinforme de la mujer, clasificado en tres grupos: 1er. Temprana de la Transición Menopáusica (etapa −2), 2°. Tardía de la Transición Menopáusica y Temprana de Postmenopausia (etapas −1 y +1a) y 3er. grupo Temprana de Postmenopausia con Tardía de Postmenopausia (etapas +1b, +1c y +2), analizando síntomas psicológicos. MATERIAL Y MÉTODO: Estudio no experimental transversal muestreo no probabilístico. Participantes 116 mujeres en un rango de edad entre 40 y 60 años con alto nivel de escolaridad, mediante la Escala de Clasificación en la Menopausia MRS, el Inventario de Ansiedad y Depresión de Beck. RESULTADOS: La muestra quedó conformada por un total de 100 mujeres con al menos un síntoma, con alto nivel de escolaridad y en el rango de edad de 40 a 60 años, agrupadas por etapa de Transición Menopáusica: 1er. grupo 36 mujeres, 2°. grupo 16 y 3er. grupo con 48 personas. Los síntomas psicológicos medidos con MRS son los más frecuentes en 41.60%; reportan queja subjetiva de pérdida de memoria 57% de las mujeres. Alfa Cronbach de .74 en MRS. CONCLUSIONES: Los síntomas psicológicos están presentes como un continuo a lo largo de la Transición Menopáusica, posiblemente debidos a la disminución de concentración de estrógenos, lo que conlleva en algunos casos al diagnóstico de Trastorno Neurocognitivo Leve.

ABSTRACT OBJECTIVE: To know the symptoms in the Menopausal Transition, through the self-report of the women, classified into three groups: 1st. Early Menopausal Transition (stage −2), 2nd. Late Menopausal Transition and Early Postmenopause (stages −1 and +1a) and 3rd. group Early Postmenopause with Late Postmenopause (stages +1b, +1 c and +2), analyzing psycological symptoms. MATERIAL & METHOD: Non-experimental transversal study, non-probabilistic sampling. The participants were 116 women between 40 and 60 years old with high schooling level, through The Menopause Rating Scale MRS, Beck Anxiety Inventory and Depression Inventory. RESULTS: The final sample consisted of 100 women with at least one symptom, with a high schooling level in the range of 40 to 60 years, grouped by Menopausal Transition stage: 1st. 36 women, 2nd. Group 16 and 3rd. group with 48. The psycological symptoms measured with MRS were the most frequently in 41.60%; report subjective complaint of memory loss 57% of women. Alfa Cronbach of .74 in MRS. CONCLUSION: Psychological symptoms are present as a continuum throughout the Menopausal Transition, possibly due to the decreased concentration of estrogen, which in some cases leads the diagnosis of Mild Neurocognitive Disorder.