Asociación entre el polimorfismo rs9939609 del gen FTO con la ingesta energética, macronutrientes y consumo de alcohol en población chilena / Association of the FTO (rs9939609) genotype with energy intake

Background: Fat-mass-associated-gene (FTO) is associated with higher energy intake and specific food preferences. Aim: To investigate the association of the FTO genotype with energy intake, macronutrient and alcohol consumption. Material and Methods: Four hundred and nine participants of the GENADIO (Genes, Environment, Diabetes and Obesity) study were included. Energy intake, macronutrient and alcohol consumption were the outcomes of interest. The association of FTO (rs9939609) genotype with these outcomes was investigated using linear regression analyses, adjusting for confounding variables. Results: After adjusting for socio-demographic factors, being a carrier of the risk allele for the FTO gene was associated with a higher energy intake (173 kcal per each extra copy of the risk variant [95% confidence intervals (CI): 45; 301], (P = 0.008). After adjusting for lifestyle factors and body mass index, the association was slightly attenuated but remained significant (144 kcal [95% CI: 14; 274], p = 0.030). Conclusions: The FTO genotype is associated with a higher energy intake.

Asociación entre el polimorfismo rs9939609 del gen FTO y marcadores de adiposidad en población adulta chilena / Association between FTO (ns9939609) genotype and adiposity markers in Chilean adults

Background: Numerous studies have identified the role of Fat-mass-associated-gene (FTO) in the development of obesity. Aim: To investigate the association of FTO gene with adiposity markers in Chilean adults. Material and Methods: 409 participants were included in this cross-sectional study. The association between FTO (rs9939609) genotype and adiposity markers was determined using linear regression analyses. Adiposity markers included were: body weight, body mass index, fat mass, waist circumference, hip circumference and waist/hip ratio. Results: A fully adjusted model showed a significant association between FTO genotype and body weight (2.16 kg per each extra copy of the risk allele [95% confidence intervals (CI): 0.45 to 3.87], p = 0.014), body mass index (0.61 kg.m-2 [95% CI: 0.12 to 1.20], p = 0.050) and fat mass (1.14% [95% CI: 0.39 to 1.89], p = 0.010). The greater magnitude of association was found between the FTO gene and fat mass when the outcomes were standardized to z-score. Conclusions: This study confirms an association between the FTO gene and adiposity markers in Chilean adults, which is independent of major confounding factors.

Manifestaciones cutáneas de pacientes en hemodiálisis crónica intermitente (HDCI) en 3 centros de Lima Metropolitana / Cutaneous manifestations of patients who are in intermittent chronic hemodialysis (ICHD) in 3 centers of metropolitan Lima

Objetivo: Describir la frecuencia y características de las manifestaciones cutáneas de pacientes en HDCI y su asociación con variables demográficas, clínicas, de laboratorios e impacto en calidad de vida. Material y métodos: Estudio descriptivo y transversal. Se revisaron las historias clínicas, se realizó un examen físico dermatológico y aplicó la encuesta SF36. Resultados: Todos tuvieron al menos una manifestación cutánea atribuida a enfermedad renal crónica (ERC) y/o HDCI. Los cambios más frecuentes fueron: alteraciones en la pigmentación (100%), alteraciones ungueales (85%), prurito y xerosis (ambos 68%). En alteraciones ungueales: onicolisis (23%), uñas mitad y mitad (16%) y estrías longitudinales (15%). En cambios en cabello: cabello fino, opaco y quebradizo (20%) y alopecia difusa (18%). El prurito y la xerosis fueron más frecuentes en diabéticos y pacientes de edad promedio mayor. Las alteraciones ungueales estuvieron asociadas a diabetes y el cambio más frecuente fue onicolisis. La calidad de vida mental fue menor en pacientes con prurito. Conclusión. Todos los pacientes en HDCI tienen al menos una manifestación cutánea. El prurito y la xerosis fueron el síntoma y el signo más importantes, relacionados uno con el otro, diabetes y edad. Además el prurito se asoció a reducción en la calidad de vida mental.

Objective: To describe the frequency and characteristics of the cutaneous manifestations of HDCI patients and its association with demographic, clinical, laboratory and impact on quality of life. Methods: Descriptive and transversal. We reviewed the medical records, physical examination was performed and applied dermatological SF36 survey. Results: all had at least one cutaneous manifestation attributed to chronic kidney disease (CKD) and/or HDCI. The most frequent changes were alterations in pigmentation (100%), nail changes (85%), pruritus and xerosis (both 68%). Changes in nails: onycholysis (23%), half and half nail (16%), longitudinal grooves (15%). Changes in hair: fine hair, dull and brittle (20%), alopecia (18%). Xerosis and pruritus were more frequent in diabetic patients, and average age older. The nail changes were associated with diabetes and onycholysis was the most frequent change. The quality of mental life was lower in patients with pruritus. Conclusion: All patients in HDCI have at least one skin manifestation. Pruritus and xerosis were the most important symptom and sign, related to each other diabetes and age. Besides pruritus associated with reduced quality of mental life.

Micosis fungoide granulomatosa con linfadenopatías sarcoidales no neoplasicas: reporte de caso y revisiónde literatura / Granulomatous mycosis fungoides associated to sarcoid-like limphadenopathies non neoplasic

Presentamos el caso de una paciente mujer quien desarrolla un episodio de eritrodermia y adenopatías, luego de muchos años, lesiones localizadas en placa compatibles con micosis fungoide granulomatosa presentando una reacción granulomatosa sarcoidal en ganglios durante un periodo de remisión de la enfermedad. La extensión extra cutánea se puede observar en un tercio de los pacientes con micosis fungoide yse asocia a transformación a linfoma anaplásico de células grandes CD30. Otras explicaciones al desarrollo de granulomas sarcoideos son: el desarrollo de sarcoidosis concomitante, asociada o no al linfoma y reacciones sarcoidosis like (en respuesta a antígenos o citoquinas tumorales; en relacióna drogas como la bleomicina, contraste). Algunos autores proponen la existencia de un síndrome linfoma sarcoidosis caracterizado por sarcoidosis activa crónica que inicia el cuadro linfoproliferativo luego de la sarcoidosis. En el caso de nuestra paciente se desarrollan las adenopatías durante un periodo de remisión de la enfermedad en las que no se observa infiltración linfomatoide neoplasica, esto nos orienta a pensar que se trata de una reacción sarcoidosis like ganglionar secundaria a la liberación de citoquinas y antígenos tumorales luego de la radioterapia o que podría tratarse de un caso de sarcoidosisasociada incipiente.

Here we report the case of a female patient who developed an episode of eritrodermia and adenopathies, after many years focus injuries in plate compatible with granulomatous mycosis fungoides presenting a granulomatous sarcoid reaction in ganglia during the sickness remission period. The extra cutaneous extension can be present in one third of the patients with mycosis fungoides and associated with the big cells CD 30+ anaplastic large cell lymphoma. Other explanations to the granulomatous sarcoides development are: the sarcoidosis consistent development, associated or not to the lymphoma and reactions sarcoidosis-like (in response to antigens or tumoral cytokines; related to drugs like bleomicine, contrast). Some authors propose the existence of a syndrome sarcoidosislymphoma characterized by chronic active sarcoidosis that starts the lymphoproliferative scheme after the sarcoidosis. In our case, the patient develops the adenopathies during a sickness remission period which does not show neoplasic lymphomatoid infiltration; that suggest being a sarcoidosis reaction like ganglionar secondary to the cytokines and tumoral antigens liberation after radiotherapy that mey be a incipient case of sarcoidosis associated. Here we report the case of a female patient who developed an episode of eritrodermia and adenopathies, after many years focus injuries in plate compatible with granulomatous mycosis fungoides presenting a granulomatous sarcoid reaction in ganglia during the sickness remission period. The extra cutaneous extension can be present in one third of the patients with mycosis fungoides and associated with the big cells CD 30+ anaplastic large cell lymphoma. Other explanations to the granulomatous sarcoides development are: the sarcoidosis consistent development, associated or not to the lymphoma and reactions sarcoidosis-like (in response to antigens or tumoral cytokines; related to drugs like bleomicine, contrast). Some authors propose the existence of a syndrome sarcoidosis-lymphoma characterized by chronic active sarcoidosis that starts the lymphoproliferative scheme after the sarcoidosis. In our case, the patient develops the adenopathies during a sickness remission period which does not show neoplasic lymphomatoid infiltration; that suggest being a sarcoidosis reaction like ganglionar secondary to the cytokines and tumoral antigens liberation after radiotherapy that mey be a incipient case of sarcoidosis associated.

La epidemiología molecular en el estudio de enfermedades crónicas con base genética y nutricional / Molecular epidemiology in the study of multifactorial diseases with genetic and nutritional basis

La epidemiología genética puede ser definida como el estudio del papel de los factores genéticos y su interacción con factores ambientales en la ocurrencia de las enfermedades en poblaciones humanas. La epidemiología molecular es una disciplina relacionada con la epidemiología genética, que se caracteriza por la utilización de técnicas de biología molecular en la evaluación de la susceptibilidad genética y de los factores de riesgo de tipo ambiental que actúan sobre la tasa de incidencia de las enfermedades. La interacción entre genética y ambiente es uno de los problemas fundamentales de estudio tanto para los genetistas como para los epidemiólogos. Desde este punto de vista, el tipo de nutrición es uno de los factores de riesgo modificables. En un futuro próximo, estudios epidemiológicos de base poblacional o de base familiar, asumirán un rol de creciente importancia en la estimación de la asociación genética-enfermedad y la interacción genética-nutrición en enfermedades crónicas de etiología multifactorial