Dietoterapia en artritis reumatoide: Revisión de la evidencia

La artritis reumatoide (RA), es una enfermedad crónica reumática, caracterizada por un daño articular progresivo y manifestaciones extraarticulares, que pueden desencadenar una discapacidad. La etiología de las patologías autoinmunes, incluyendo la RA, es compleja, abarcando factores de tipo genético, hormonal, dietarios y ambientales. Sin embargo, los mecanismos fisiológicos por los que estos agentes contribuyen a la patogenia aún no están definidos completamente. Estudios sugieren un impacto de la disbiosis del microbioma intestinal en la patogénesis de la artritis reumatoide sugiriendo también la alteración de la permeabilidad intestinal como una posible causa. Esta se puede relacionar con patrones dietarios influyentes en la prevención de esta patología así como una propuesta de tratamiento complementario al manejo farmacológico tradicional, considerando el riesgo aumentado de estos pacientes de desarrollar síndrome metabólico y "caquexia reumatoide", una acumulación de tejido adiposo acompañado de una disminución de tejido muscular debido a los cambios catabólicos debido a la inflamación crónica e inactividad física a consecuencia de las dificultades motoras. Ante evidencia reciente que propone patrones de alimentación e intervenciones dietarias como tratamiento complementario a la terapia farmacológica en el manejo de la RA, la siguiente revisión narrativa cualitativa se propone revisar la efectividad de intervenciones propuestas en términos de dolor y actividad de enfermedad, encontrando dentro de la amplia heterogeneidad de intervenciones propuestas, aquellos patrones dietéticos con efecto modulador de la microbiota intestinal como la dieta mediterránea y sus variaciones en contexto de la promoción de un estilo de vida serían positivas como terapia complementaria a esta patología.

Rheumatoid arthritis (RA) is a chronic rheumatic disease characterised by progressive joint damage and extra-articular manifestations that can lead to disability. The aetiology of autoimmune diseases, including RA, is complex, involving genetic, hormonal, dietary, and environmental factors. However, the physiological mechanisms by which these agents contribute to pathogenesis have not yet been fully defined. More recent studies suggest an impact of gut microbiome dysbiosis on the pathogenesis of autoimmune diseases in both animal and human models, including rheumatoid arthritis, also suggesting altered intestinal permeability as a possible cause. This modification of the gut microbiome may be related to influential diet patterns in the prevention of this pathology, as well as a proposed complementary treatment to traditional pharmacological treatment, also considering the increased risk for these patients of developing metabolic syndrome and "rheumatoid cachexia", an accumulation of adipose tissue accompanied by a decrease in muscle tissue due to catabolic changes due to chronic inflammation and physical inactivity as a consequence of motor difficulties in RA. With the emergence of recent evidence proposing dietary interventions and eating patterns as adjunctive treatment to drug therapy in the management of RA, the following narrative qualitative review proposes reviewing recent evidence on the effectiveness of various proposed dietary interventions in the treatment of rheumatoid arthritis in terms of pain and disease activity, finding between a high heterogeneity of proposed interventions, those dietary patterns with modulating effect on the gut microbiome as Mediterranean diet and its variations in the context of promoting a healthy lifestyle would be positive as a complementary therapy for this disease.

Cantidad, estabilidad y digestibilidad de hidratos de carbono tras el proceso de extrusión: Impacto sobre el índice glicémico de harinas de consumo habitual en Chile

Las harinas de trigo, maíz, lentejas y arroz son elementales para la formulación de distintos alimentos de alto consumo en la población chilena. El proceso de extrusión es ampliamente utilizado por la industria alimentaria para generar propiedades que permitan la reconstitución instantánea de harinas. Sin embargo, dicho proceso tecnológico; afecta la cantidad, la estabilidad y la digestibilidad de los hidratos de carbono (CHO) del ingrediente alimentario. Estas propiedades nutricionales impactan directamente en la respuesta glicémica de los individuos y en el índice glicémico (IG) de los alimentos. La presente revisión analiza el efecto de la extrusión sobre las propiedades nutricionales de los CHO de alimentos elaborados a partir de harinas de consumo habitual en Chile. Factores como la temperatura, y en menor grado, la humedad y velocidad utilizadas en el proceso de extrusión, junto con el origen del grano utilizado, determinan las propiedades nutricionales de CHO presente en harinas extruidas. El estudio, control y estandarización de estas variables operacionales permitiría estandarizar la elaboración industrial de productos extruidos, impactando favorablemente; sobre la velocidad de hidrólisis de almidón y el IG de harinas de trigo, maíz, lentejas o arroz; y de alimentos formulados a partir de ellas.

Flours from wheat, corn, lentils, and rice are essential for the formulation of various high-consumption foods in the Chilean population. The extrusion process is widely used by the food industry to generate properties that allow for the instant reconstitution of flours. However, this technological process affects the nutritional properties of the carbohydrates (CHO) in the food ingredient, including quantity, stability, and digestibility; characteristics that directly impact the glycemic response of individuals and the glycemic index of foods. This review analyzes the effect of extrusion on the nutritional properties of CHO in foods made from commonly consumed flours in Chile. Factors such as temperature, and to a lesser extent, humidity, and speed used in the extrusion process, along with the origin of the grain used, determine the healthy properties of CHO in extruded flours. The utility of adjusting the mentioned variables in the extrusion process would allow for the standardization of industrial scaling in the production of extruded foods that would positively impact the starch hydrolysis rate and glycemic index of wheat, corn, lentil, or rice flours, and foods formulated from them.

BRAF and NRAS prognostic values in conjunctival melanoma: analysis and literature review / Análise do valor prognóstico dos marcadores BRAF e NRAS no melanoma da conjuntiva e revisão da literatura

ABSTRACT Purpose: Conjunctival melanoma is a rare and aggressive tumor with a propensity for regional and distant metastases. This study aimed to analyze BRAF/NRAS markers in conjunctival melanoma and their relationship with tumor recurrences and patient prognosis. Methods: This retrospective, observational, single-center study included consecutive patients with an anatomopathological diagnosis of conjunctival melanoma, registered between January 1992 and December 2019. BRAF/NRAS mutations were analyzed using cobas®4800 kit (Roche®) in samples obtained by excisional or map biopsy. Additionally, the presence of other associated precancerous or tumor lesions was assessed. Results: A total of 12 patients with positive histological samples for conjunctival melanoma were included (7 women, 5 men), with a mean age at diagnosis of 60 years and a mean evolution time of 6.38 ± 3.4 years. BRAF V600E mutation was observed in three biopsies (25%), similar to NRAS Q61X (25%). Recurrences occurred in all patients with positive BRAF or NRAS mutation, and five of these patients developed systemic dissemination (83.33%). Moreover, four of six patients with mutated BRAF or NRAS (66.66%) had histopathological findings of tumor or precancerous lesions. Conclusions: BRAF and NRAS mutations may be risk factors for recurrence and shorter survival in conjunctival melanoma, which would make these patients candidates for targeted therapies and comprehensive and individualized follow-up. All these data warrant standardized prospective studies.

RESUMO Objetivo: O melanoma da conjuntiva é um tumor raro e agressivo, com propensão à disseminação metastática regional e distante. Este estudo tem como objetivo analisar os marcadores BRAF e NRAS no melanoma da conjuntiva e sua relação com recidivas tumorais e com o prognóstico do paciente. Métodos: Este foi um estudo retrospectivo, observacional e unicêntrico de pacientes consecutivos com diagnóstico anatomopatológico de melanoma da conjuntiva feito entre janeiro de 1992 e dezembro de 2019. As mutações BRAF e NRAS foram analisadas com o kit cobas® 4800 (Roche®) em amostras obtidas através de biópsia excisional ou por mapa. Além disso, foi avaliada a presença de lesões pré-cancerosas ou tumorais associadas. Resultados: Foram incluídos 12 pacientes com amostras histológicas positivas para melanoma da conjuntiva (7 mulheres e 5 homens), com idade média ao diagnóstico de 60 anos e tempo médio de evolução de 6,38 ± 3,4 anos. A mutação BRAF V600E foi encontrada em 3 biópsias (25%), bem como a NRAS Q61X (25%). Ocorreram recidivas em todos os pacientes positivos para mutações de BRAF ou NRAS e 5 desses pacientes desenvolveram disseminação sistêmica (83,33%). Além disso, 4 dos 6 pacientes com BRAF ou NRAS mutante (66,66%) apresentaram achados histopatológicos de lesões tumorais ou pré-cancerosas. Conclusões: As mutações BRAF e NRAS podem ser fatores de risco para recorrência e menor sobrevida no melanoma da conjuntiva, o que tornaria esses pacientes candidatos a terapias direcionadas e a um acompanhamento mais abrangente e individualizado. Todos esses dados justificam mais estudos prospectivos padronizados.

Histerectomía mediante acceso vNOTES. Reporte de caso / Hysterectomy across vNOTES procedure. A case report

Resumen ANTECEDENTES: La cirugía mediante vNOTES (Vaginal Natural Orifices Transluminal Endoscopic Surgery, por sus siglas en inglés), practicada por primera vez en el 2010, es una técnica quirúrgica emergente que elimina el traumatismo quirúrgico en la pared abdominal mediante orificios naturales del cuerpo para la ejecución de procedimientos quirúrgicos. Debido a la falta de reportes con vNOTES en México se comunica el caso de una paciente en quien se aplicó este acceso, con buenos resultados. CASO CLÍNICO: Paciente de 60 años, asintomática, referida para tratamiento definitivo de una lesión intraepitelial cervical, porque no aceptó el conservador. La histerectomía se efectuó mediante el acceso vNOTES, con una duración de 100 minutos, sin contratiempos ni complicaciones posoperatorias. A las 24 horas se dio de alta del hospital hemodinámicamente estable y asintomática, y sin complicaciones tardías. CONCLUSIÓN: La histerectomía mediante el acceso VNOTES fue exitosa, sin complicaciones y con adecuada evolución posquirúrgica. La evidencia actual demuestra que el acceso mediante vNOTES para la histerectomía es un procedimiento eficaz y seguro que combina las ventajas de la vía vaginal con la vía laparoscópica.

Abstract BACKGROUND: vNOTES surgery (Vaginal Natural Orifices Transluminal Endoscopic Surgery), first practiced in 2010, is an emerging surgical technique that eliminates surgical trauma to the abdominal wall by means of natural body orifices for the execution of surgical procedures. Due to the lack of reports with vNOTES in Mexico, we report the case of a patient in whom this access was applied, with good results. CLINICAL CASE: 60-year-old asymptomatic patient referred for definitive treatment of a cervical intraepithelial lesion, because she did not accept the conservative treatment. The hysterectomy was performed by vNOTES access, with a duration of 100 minutes, without setbacks or postoperative complications. At 24 hours she was discharged from the hospital hemodynamically stable and asymptomatic, and without late complications. CONCLUSION: Hysterectomy by VNOTES access was successful, without complications and with adequate postoperative evolution. Current evidence demonstrates that vNOTES access for hysterectomy is an effective and safe procedure that combines the advantages of the vaginal and laparoscopic routes.

Genetic variants in the SLC16A11 gene are associated with increased BMI and insulin levels in nondiabetic Chilean population

ABSTRACT Objective: To study the association of SLC16A11 gene variants with obesity and metabolic markers in nondiabetic Chilean adults. Materials and methods: This cross-sectional study included 263 non-diabetic adults. The genotype of the rs75493593 polymorphism of SLC16A11 gene was performed by real-time PCR. It's association with adiposity markers (body weight, BMI, waist circumference and fat mass percentage), metabolic markers (glucose, insulin, HOMAIR, leptin, total cholesterol, LDLc, HDLc, triglycerides, ALT, GGT and hsCRP) and blood pressure was analyzed by linear regression. Results: The minor allele (T) of the SLC16A11 gene (rs75493593) has a frequency of 29.7% among Chileans. Risk genotypes (GT and TT) were associated with a significant 1.49 mU/l increase in plasmatic insulin for each copy of the minor allele (95% CI: 0.12, 2.87, p < 0.05). This association remained significant after adjusting for socio-demographic variables, physical activity and smoking (1.36 mU/l, 95% CI: 0.16, 2.58 p < 0.05), but was lost when BMI was included as a confounding factor. Higher BMI was also significantly associated with polymorphic genotypes in SLC16A11, independent of socio-demographic variables. Conclusion: The minor allele of the SLC16A11 gene (T) is highly prevalent among Chileans and is associated with increased insulin and BMI in nondiabetic individuals. These findings suggest that the genetic variant in SLC16A11 is not only associated with type 2 diabetes as previously shown in Mexicans, but is also related to early metabolic alterations in healthy subjects that may lead to type 2 diabetes.

Vitamina D, miR-21 y marcadores de apoptosis en pacientes con diabetes tipo I / Vitamin D, miR-21 and apoptosis markers in patients with type 1 diabetes

La diabetes Tipo 1 (DT1) es una compleja enfermedad autoinmune con una etiología aún desconocida. La vitamina D ha sido ampliamente estudiada debido a su potencial terapéutico en los potenciales nuevos casos de DT1. Por otra parte, los microARNs (miRs) han sido propuestos como posibles biomarcadores en diversos procesos biológicos como en la apoptosis e inflamación. El objetivo de este estudio fue evaluar el efecto de la suplementación con vitamina D sobre el perfil de expresión del miR-21 y marcadores de apoptosis tales como: BCL2, STAT3, TIPE2 y DAXX, en células mononucleares periféricas provenientes de pacientes con DT1 y sujetos controles. RESULTADOS: El perfil de expresión de miR-21 se encontró disminuido en los pacientes con DT1 en comparación con los controles. La expresión relativa de BCL2 se encontró aumentada en controles al comparar con pacientes DT1 en todas las condiciones experimentales. La expresión relativa de DAXX mostró un perfil de expresión diferencial al comparar pacientes con DT1 versus controles (p=0.006). CONCLUSIÓN: El estímulo con vitamina D parece tener un posible efecto regulador sobre los genes BCL2 y DAXX.

Type 1 diabetes (T1D) is a complex chronic autoimmune disease. Vitamin D has been one of the most studied therapeutic potential outbreaks related to T1D. Specific miRNAs have been proposed as potential biomarkers in several biological processes as apoptosis and inflammation. The aim of this study was to evaluate the effect of vitamin D on the expression profiles of miR-21 and apoptotic markers BCL2, STAT3, TIPE2 and DAXX, in PBMCs from T1D patients and control subjects. RESULTS: miR-21 expression was increased in controls regarding T1D patients. BCL2 was increased in controls compared to T1D patients in all experimental conditions. DAXX showed different expression patterns between T1D patients and controls (p=0.006). CONCLUSION: Vitamin D showed a possible regulation effect on apoptosis markers mainly through the regulation of BCL2 and DAXX

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.

Validation of the EuroSCORE model in patients undergoing heart surgery in Regional Hospital of High Speciality of Bajio / Validación del modelo EuroSCORE en pacientes sometidos a cirugía cardiaca en el Hospital Regional de Alta Especialidad del Bajío

Abstract: Introduction: EuroSCORE is a probabilistic model with good performance in the prognosis of mortality in heart surgery in many latitudes. It is recommendable to validate it in hospitals where it is employed. Objective: To validate the EuroSCORE model in adult patients at the Hospital Regional de Alta Especialidad del Bajío (HRAEB) of León, Guanajuato, Mexico. Material and methods: We conducted an observational transversal, and retrospective study, accomplishing this through the review of the clinical files of patients submitted to heart surgery with and without extracorporeal circulation pump from 01/01/2008 to 12/31/2013 at the HRAEB. This included mortality up to hospital discharge, utilizing the on-line calculator of the EuroSCORE program to estimate risk of death. In order to validate the EuroSCORE model, we assessed discrimination and calibration through the Area Under the receiver operating characteristics (ROC) curve and χ2 test with Hosmer-Lemeshow (H-L) goodness-of-fit, respectively. Results: A total of 342 patients, aged 50.02 ± 16.66 years, 181 males (52.9%) and 161 women (47.1%). The area under the ROC curve of the additive model was 0.763, and of the Hosmer-Lemeshow test was 5.30, with p = 0.62. The area under the ROC curve of the logistic model was 0.761 and of the Hosmer-Lemeshow test, 8.78, with p = 0.36. Conclusion: The EuroSCORE model is a reliable score for estimating the probabilities of death in adult patients submitted to heart surgery with or without the pump at the HRAEB.

Resumen: Introducción: EuroSCORE es un modelo probabilístico con buen desempeño en el pronóstico de mortalidad en cirugía cardiaca en muchas latitudes. Es recomendable validarlo en los hospitales donde se emplea. Objetivo: Validar el modelo EuroSCORE en pacientes adultos en el Hospital Regional de Alta Especialidad del Bajío (HRAEB) de León, Guanajuato, México. Material y métodos: Se realizó un estudio observacional transversal y retrospectivo, que se completó con la revisión de los expedientes clínicos de pacientes sometidos a cirugía cardiaca con y sin bomba de circulación extracorpórea desde el 01/01/2008 hasta el 31/12/2013 en el HRAEB. Esto incluyó la mortalidad hasta el alta hospitalaria, utilizando la calculadora en línea del programa EuroSCORE para estimar el riesgo de muerte. Para validar el modelo EuroSCORE, evaluamos la discriminación y la calibración a través de la curva de características de operación del receptor (ROC) y la prueba de χ2 con la efectividad de ajuste de Hosmer-Lemeshow (H-L), respectivamente. Resultados: Un total de 342 pacientes, de 50.02 ± 16.66 años, 181 hombres (52.9%) y 161 mujeres (47.1%). El área bajo la curva ROC del modelo aditivo fue de 0.763, y la de la prueba Hosmer-Lemeshow fue de 5.30, con p = 0.62. El área bajo la curva ROC del modelo logístico fue 0.761 y de la prueba Hosmer-Lemeshow, 8.78, con p = 0.36. Conclusión: El modelo EuroSCORE es una herramienta confiable para estimar las probabilidades de muerte en pacientes adultos sometidos a cirugía cardiaca con o sin bomba en el HRAEB.

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.

Gnathostomiasis: an emerging infectious disease relevant to all dermatologists

Abstract: Gnathostomiasis is a parasitic infection caused by the third larval stage of nematodes of the genus Gnathostoma. The disease is endemic in some countries around the world. In the American continent, the majority of cases is concentrated in Mexico, Ecuador, and Peru. However, due to increasing traveling either at the intercontinental or intracontinental level, the disease is seen each time more frequently in tourists. Furthermore, countries, such as Brazil, that have never been considered endemic are reporting autochthonous cases. The disease usually presents as a deep-seated or slightly superficial migratory nodule in patients with history of eating raw fish, in the form of ceviche, sushi, or sashimi. Along with the clinical presentation, diagnostic criteria include either blood or tissue eosinophilia. In most instances, these criteria are enough for the attending physician to institute therapy. Chances of finding the parasite are low, unless the biopsy is taken from a very specific area that develops after antiparasitic treatment is started. The potential of other organ involvement with more serious consequences should always be kept in mind.

Expression of miR-155, miR-146a, and miR-326 in T1D patients from Chile: relationship with autoimmunity and inflammatory markers

ABSTRACT Objective The aim of this research was to analyze the expression profile of miR-155, miR-146a, and miR-326 in peripheral blood mononuclear cells (PBMC) of 47 patients with type 1 diabetes mellitus (T1D) and 39 control subjects, as well as the possible association with autoimmune or inflammatory markers. Subjects and methods Expression profile of miRs by means of qPCR using TaqMan probes. Autoantibodies and inflammatory markers by ELISA. Statistical analysis using bivariate correlation. Results The analysis of the results shows an increase in the expression of miR-155 in T1D patients in basal conditions compared to the controls (p < 0.001) and a decreased expression level of miR-326 (p < 0.01) and miR-146a (p < 0.05) compared T1D patients to the controls. miR-155 was the only miRs associated with autoinmmunity (ZnT8) and inflammatory status (vCAM). Conclusion Our data show a possible role of miR-155 related to autoimmunity and inflammation in Chilean patients with T1D.

Efecto de la suplementación con vitamina D en monodosis en niños con parálisis cerebral: Estudio preliminar controlado y aleatorizado / Effect of supplementation with a single dose of vitamin D in children with cerebral palsy: Preliminary randomised controlled study

Introducción: Los niños con parálisis cerebral (PC) tienen mayor riesgo de deficiencia de vitamina D (VD). Aunque existen bastantes estudios sobre VD en PC, hay limitada información sobre suplementación con VD en estos pacientes. Objetivo: Evaluar el efecto de la suplementación con VD en monodosis en las concentraciones plasmáticas de 25-hidroxi-vitamina-D (25OHD) en niños con PC. Pacientes y método: Estudio controlado, prospectivo y aleatorizado. Se estudiaron 30 niños chilenos (19 varones) con PC, mediana de edad de 9,9 años (6,2-13,5). Se registraron las variables clínicas y bioquímicas incluyendo 25OHD (tiempo 0 y 8 semanas). El grupo suplementado (S) recibió 100.000 UI D3 oral (tiempo 0), comparado con el grupo placebo (P). Resultados: Entre las características clínicas destaca: gastrostomizados (60%), desnutrición (30%), postración (93,3%), uso de antiepilépticos (70%) y uso de antiepilépticos inductores del metabolismo de VD (43,3%). Las mediciones basales de variables bioquímicas fueron normales. La 25OHD fue insuficiente en 4/30 y deficiente en 6/30. No hubo asociación de 25OHD con las variables estudiadas. Completaron el estudio 8 pacientes en el grupo S y 10 en el P. En ambos grupos no se observaron diferencias significativas en las variables basales. A las 8 semanas la calcemia, la fosfemia y la fosfatasa alcalina fueron normales en ambos grupos, la 25OHD en el grupo P fue normal en 6/10 e insuficiente + deficiente en 4/10 y normal en 8/8 en el grupo S (test exacto de Fisher, p = 0,07). Conclusiones: Una monodosis de 100.000 UI de VD podría normalizar las concentraciones de 25OHD en niños con PC. Se necesitan más estudios para confirmar estos resultados.

Introduction: Children with cerebral palsy (CP) have an increased risk of vitamin D (VD) deficiency. Although there are many studies on VD and CP, there is limited information about VD supplementation in these patients. Objective: To evaluate the effect of supplementation with a single dose of VD on the plasma concentrations of 25-hydroxy-vitamin-D (25OHD) in children with CP. Patients and method: Prospective-randomised-controlled-trial, including 30 Chilean children (19 males) with CP, median age 9.9 years (6.2-13.5). Clinical and biochemical variables including 25OHD, were recorded (time 0 and 8 weeks). Patients were allocated to the supplemented (S) group receiving 100,000 IU oral D3 at baseline, and compared with the placebo (P) group. Results: Among clinical features are highlighted: gastrostomy (60%), underweight (30%), bedridden (93.3%), antiepileptic drugs (70%), and 43.3% used VD metabolism inducing antiepileptics. Baseline biochemical measurements were normal. The 25OHD was insufficient in 4/30 and deficient in 6/30. 25OHD levels were not associated with the variables studied. Eight patients completed the study in the S group, and 10 in P group. The placebo and supplementation groups had no significant difference in baseline variables. Serum calcium, phosphate, and alkaline phosphatase levels at 8 weeks were normal in both groups, with no statistically significant differences. 25OHD in the P group was normal in 6/10, and insufficient + deficient in 4/10, and the S group was normal in all (8/8) (exact Fisher test P = .07). Conclusions: A single dose of 100,000 IU VD could normalise the concentrations of 25OHD after 8 weeks of supplementation in Children with CP, but more studies are required to confirm these results.

Síndrome de hipoglicemia autoinmune: Primeros casos en Chile / Insulin autoimmune syndrome: Report of two cases

Insulin autoimmune syndrome (IAS) is characterized by spontaneous hypoglycemia with extremely high insulin levels and the presence of circulating autoantibodies against insulin, in patients who have never been exposed to exogenous insulin. We report two patients with the syndrome. A 36 years old male presenting with hypoglycemia in the emergency room had an oral glucose tolerance test showed basal and 120 min glucose levels of 88 and 185 mg/dl. The basal and 120 min insulin levels were 2,759 and 5,942 μUI/ml. The presence of an insulin secreting tumor was discarded. Anti-insulin antibodies were positive. He was successfully treated with a diet restricted in carbohydrates and frequent meals in small quantities. A 65 years old female presenting with hypoglycemia in the emergency room had the fasting insulin levels of 1,910 µUI/ml. No insulin secreting tumor was detected by images and anti-insulin antibodies were positive. The polyethylene glycol precipitation test showed a basal and after exposition insulin level 1,483 and 114 µUI/ml, respectively. She responded partially to diet and acarbose and required the use of prednisone with a good clinical response.

La metilación global del ADN y los niveles de homocisteína en plasma se encuentran disminuidos en pacientes con diabetes mellitus tipo 1 / Global DNA methylation and homocysteine levels are lower in type 1 diabetes patients

Background: The worldwide rise in the incidence of Type 1 Diabetes (T1D), and the concordance rate between monozygotic twins (50%), indicate a strong effect of the environment as an underlying factor of this disease. This process can occur throughout epigenetic modifications of gene expression such as DNA methylation, in which several nutrients participate as cofactors. Aim: To determine DNA methylation status in T1D patients and if it is related to plasma levels of folates and homocysteine (Hcy). Material and Methods: We obtained blood samples from 25 T1D patients aged 13.7 ± 5.9 years (11 males) and 25 healthy subjects aged 31.1 ± 7.8 years (16 males). DNA methylation was measured using a colorimetric kit in extracted DNA. Results are expressed as median (interquartile range). Results: Compared with healthy controls, T1D patients had lower global DNA methylation (0.85 (0.91) % and 1.25 (1.16) % respectively, p < 0.02) and Hcy levels (4.8 (1.1) µmol/L and 7.3 (1.4) µmol/L respectively p < 0.01). There were no differences in folate levels between groups. A significant association between folates and global DNA methylation status was observed in T1D patients (r = -0.564, p < 0.01) and healthy subjects (r = 0.440, p = 0.03). Conclusions: TD1 patients had lower levels of Hcy and global DNA methylation. It is relevant to further investigate if this imbalance also induces epigenetic changes in a gene-specific manner, especially in key genes involved in T1D pathogenesis.

Prevalencia de síndrome metabólico en individuos de etnia Mapuche residentes en zonas rurales y urbanas de Chile / Prevalence of metabolic syndrome in Mapuche individuals living in urban and rural environment in Chile

Background: Metabolic Syndrome (MS) increases the risk of diabetes and mortality associated with cardiovascular disease. However, the prevalence of MS could differ by ethnicity and lifestyle factors. Aim: To determine the prevalence of MS in Mapuche individuals living in urban and rural environments in Chile and to investigate whether the prevalence and risk of MS in urban and rural environments differs by sex, age and nutritional status. Material and Methods: A total of 1077 Mapuche participants were recruited from urban (MU = 288) and rural (MR = 789) settings. Body mass index, waist circumference and blood pressure were measured. A fasting blood sample was obtained to measure serum glucose, HDL cholesterol and triacylglycerol. The prevalence of MS was determined using the unified IDF and ATP-III criteria. Results: An environment and sex interaction was found for the prevalence of MS (p = 0.042). The prevalence was significantly lower in male MR (13%) compared to other groups (22, 23 and 25% among female MR, female MU and male MU respectively). Also, the prevalence of central obesity and low HDL-cholesterol were significantly lower in male MR. MU are at an increased risk of developing MS compared to MR, with an odds ratio of 1.59 (95% confidence intervals 1.1 to 2.2). This risk increases along with age or body mass index of the population. Conclusions: The adoption of an urbanized lifestyle increases the risk of developing MS in Mapuche individuals. This risk is enhanced by age and nutritional status.

Estado nutricional de vitamina D en pre escolares chilenos de zonas australes / Vitamin D nutrition in Chilean pre-school children living in extreme latitudes

Background: Sunlight exposure is the main factor for adequate vitamin D (VitD) nutrition; in extreme latitudes there is an increased riskfor its deficiency. Aim: To study VitD nutritional status in pre-school children living in austral latitudes of Chile. Subjects and Methods: A blood sample was obtained from 60 pre-school healthy children (aged 2 to 5years, 24 males), attending to public day-care centers in Coyhaique (45° 35' S), during March (time 1) and September (time 2). 250HD, parathyroid hormone (PTH), calcium, phosphate and alkaline phosphatases (PA) were measured. Information about weather conditions during three months prior to the sample withdrawal was gathered. Results: Forty nine percent of children had a normal weight and 11% were overweight. Vive children with unreliable 250HD levels were excluded from analysis. At time 1, 250HD levels were 21.6 ± 14.5 ngl mh (7.9-71.1). Sixty four percent of children had valúes < 20 ng/mL (deficiency). At time 2, the figures were 21.5 ± 13.2 ng/mL (9.4-68.5) and 67.3% of children were deficient. PTH, serum calcium, phosphate and PA were normal. Prior to time 1, the UVradiation Índex (UVI) was high to extreme (91.3%), with 3.3 and 73% ofsunny and cloudy days, respectively. Mean minimal and maximal temperatures were 7 and 17.3°C respectively. Prior to time 2 the IUVwas low in 100%) ofdays; with 15.2 and 60.9 ofsunny and cloudy days, respectively. Mean minimal and maximal temperatures were 0.3 and 6.7°C respectively. No association of250HD with the other metabolicparameters was found. Conclusions: Chilean pre-school children living in austral latitudes have a high rate of vitamin D deficiency, throughout theyear, with no association with PTH, calcium, phosphate or PA. Further research is required to study vitamin D deficiency in other latitudes and magnitude of sunlight exposure.