Analysis of dietary fats intake and lipid profile in Chilean patients with glucose transport type 1 deficiency syndrome: similarities and differences with the reviewed literature.

Introduction: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a neurological disorder caused by mutations in the SLC2A1 gene. The main treatment is ketogenic diet therapy (KDT), which changes the brain's energy substrate from glucose to ketone bodies. The diet controls seizures, but there may be side effects such as dyslipidemia. This study aimed to describe the type of fats ingested by the Chilean cohort of patients with GLUT1-DS and analyze for alterations in the lipid profile. Methods: A GLUT1-DS group and a control group were formed, each with 13 subjects who were matched by age, gender, and nutritional status. Anthropometry, dietary intake, including types of fat, and blood tests were evaluated (lipid and liver profile, and 25-hydroxyvitamin D levels). Results: A high-fat diet, especially saturated fat, was identified in the GLUT1-DS group (38% of total calories), with the use of medium-chain triglycerides (17% of total calories). In addition, GLUT1-DS participants had a higher intake of monounsaturated (MUFA) and polyunsaturated (PUFA) fats and adequate consumption of omega-3 (2% of total calories). Despite the GLUT1-DS group receiving on average 80% of its total energy as fats, it is important to highlight that 50% are MUFA+PUFA fats, there were no significant differences in the lipid and liver profile compared to the control group. Conclusion: KDT did not negatively impact lipid profile, despite a high intake of fats. It is important to monitor lipid profiles, in a personalized and constant manner, to prevent future nutritional risks.

Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet.

There are concerns about muscle and bone health in patients with Phenylketonuria (PKU). Our aim was to compare muscle mass, function, and bone health among young adults with PKU who maintained or suspended dietary treatment. METHODS: Three groups were considered-PKU-1: 10 patients who used a protein substitute (PS) without phenylalanine (Phe); PKU-2: 14 patients who used the PS without Phe until eighteen years old and then practiced mostly a vegan diet; and 24 matched healthy controls. A 24 h recall survey, blood parameters, body composition and bone mineral density through DEXA, rectus femoris thickness by ultrasound, hand grip strength, submaximal exercise test, and walking speed were assessed. RESULTS: PKU-1 patients had lower hand grip strength than their matched controls, but no other differences. Compared to controls, the PKU-2 group had lower fat-free mass (p = 0.01), less spine and femoral bone mineral density (p = 0.04 and p < 0.01, respectively), and peak workload on the incremental test (p = 0.03). When comparing PKU groups, blood Phe levels were significantly lower in the PKU-1 group (p = 0.02). CONCLUSIONS: Among PKU patients, abandoning the dietary treatment and maintaining high blood Phe concentrations could be deleterious for muscles and bones. However, we cannot discard other causes of bone and muscle damage in these patients.

Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots.

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism where high phenylalanine (Phe) concentrations cause irreversible intellectual disability that can be prevented by newborn screening and early treatment. Evidence suggests that PKU subjects not adherent to treatment could be at risk of insulin resistance (IR). We studied how Phe concentrations (PheCs) relate to IR using machine learning (ML) and derived potential biomarkers. In our cross-sectional study, we analyzed subjects with neonatal diagnoses of PKU, grouped as follows: 10 subjects who adhered to treatment (G1); 14 subjects who suspended treatment (G2); and 24 control subjects (G3). We analyzed plasma biochemical variables, as well as profiles of amino acids and acylcarnitines in dried blood spots (DBSs). Higher PheCs and plasma insulin levels were observed in the G2 group compared to the other groups. Additionally, a positive correlation between the PheCs and homeostatic measurement assessments (HOMA-IRs) was found, as well as a negative correlation between the HOMA-Sensitivity (%) and quantitative insulin sensitivity check index (QUICKI) scores. An ML model was then trained to predict abnormal HOMA-IRs using the panel of metabolites measured from DBSs. Notably, ranking the features' importance placed PheCs as the second most important feature after BMI for predicting abnormal HOMA-IRs. Our results indicate that low adherence to PKU treatment could affect insulin signaling, decrease glucose utilization, and lead to IR.

Crononutrición y su relación con la obesidad: Una revisión sistemática

RESUMEN Introducción: A través del reloj central y de los relojes periféricos que se encuentran en un organismo, se regula el ritmo circadiano (RC), el cual interviene en las funciones metabólicas y endocrinas. La "crononutrición" explica la importancia del tiempo y los tipos de alimentación sobre nuestro RC. La obesidad es uno de los mayores problemas de salud pública. Objetivo: Describir la relación que existe entre la crononutrición y la obesidad. Métodos: Revisión sistemática; búsqueda en PubMed, Cochrane Library, Scielo y Medline, entre los años 2014 a 2019, sólo en humanos. Se obtuvieron 19 artículos y de ellos sólo 4 artículos cumplieron con los criterios de inclusión. Resultados: Se observó que valores de Índice de Masa Corporal (IMC) y circunferencia de cintura (CC) eran mayores en personas que no desayunaban y que cenaban con menos de 3 hrs antes de dormir. Se obtuvo que en niños de 4 años con ingestas energética mayores en almuerzo y cena, presentaban mayor probabilidad de sobrepeso u obesidad a los 7 años y además, no desayunar y cenar tardíamente se asoció negativamente con el peso corporal. En otro estudio, se observó que los adolescentes que realizaban sus comidas principales en horarios tardíos, hubo una asociación con el aumento en el IMC y CC. En sujetos con peso normal, independiente de si comían con tendencia hacia la mañana o la noche, pero presentaban una sincronía en su RC, no sufrían mayores alteraciones en su peso, lo cual no sucedió en sujetos con exceso de peso. Conclusiones: Una alimentación no sincronizada con el RC, puede aumentar la probabilidad de desarrollar obesidad en el mediano y largo plazo. Sin embargo, aún se necesita mayor evidencia.

Abstract Introduction: The circadian rhythm is responsible for regulating important metabolic and endocrine functions. "Chrononutrition" explains the importance of time and types of food based on circadian rhythm. Obesity is one of the biggest public health problems. Objective: To describe the relation between chrono-nutrition and obesity. Methods: A systematic review was performed using PubMed, Scielo and Medline databases of articles published between 2014 to 2019 in humans. Nineteen articles were obtained and four articles met inclusion criteria. Results: Higher Body Mass Index (BMI) and weight circumference (WC) values were observed in people who skipped breakfast and ate less than 3 hours before bed. Children 4 years of age with higher energy intakes at lunch and dinner were more likely to be overweight or obese at 7 years. Skipping breakfast and eating dinner later was negatively associated with body weight. Among adolescents, eating main meals late was associated with an increase in BMI and WC. In normal weight subjects, regardless of whether they ate early or late, if eating was aligned with their circadian rhythm, they did not suffer major changes in weight. This was not the case for subjects with excess weight. Conclusions: A diet not aligned with the circadian rhythm, may increase the probability of generating obesity in the medium and long term. However, evidence is still needed.

NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers.

Treatment and follow-up in Hereditary Tyrosinemia type 1 (HT-1) patients require comprehensive clinical and dietary management, which involves drug therapy with NTBC and the laboratory monitoring of parameters, including NTBC levels, succinylacetone (SA), amino acids, and various biomarkers of liver and kidney function. Good adherence to treatment and optimal adjustment of the NTBC dose, according to clinical manifestations and laboratory parameters, can prevent severe liver complications such as hepatocarcinogenesis (HCC). We analyzed several laboratory parameters for 15 HT-1 patients over one year of follow-up in a cohort that included long-term NTBC-treated patients (more than 20 years), as well as short-term patients (one year). Based on this analysis, we described the overall adherence by our cohort of 70% adherence to drug and dietary treatment. A positive correlation was found between blood and plasma NTBC concentration with a conversion factor of 2.57. Nonetheless, there was no correlation of the NTBC level with SA levels, αFP, liver biomarkers, and amino acids in paired samples analysis. By separating according to the range of the NTBC concentration, we therefore determined the mean concentration of each biochemical marker, for NTBC ranges above 15-25 µmol/L. SA in urine and αFP showed mean levels within controlled parameters in our group of patients. Future studies analyzing a longer follow-up period, as well as SA determination in the blood, are encouraged to confirm the present findings.

Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.

This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After a pilot test, the final version was sent to 25 practitioners working with inborn errors of metabolism (IEM) in 14 countries. Our results include 22 centers in 13 countries. Most countries (12/13) screened newborns for PKU. Phenylalanine (Phe) targets at different ages were very heterogeneous among centers, with greater consistency at the 0-1 year age group (14/22 sought 120-240 µmol/L) and the lowest at >12 years (10 targets reported). Most countries had only unflavored powdered amino acid substitutes (10/13) and did not have low-protein foods (8/13). Only 3/13 countries had regional databases of the Phe content of foods, and only 4/22 centers had nutrient analysis software. The perceived obstacles to treatment were: low purchasing power (62%), limited/insufficient availability of low-protein foods (60%), poor adherence, and lack of technical resources to manage the diet (50% each). We observed a heterogeneous scenario in the dietary management of PKU, and most countries experienced a lack of dietary resources for both patients and health professionals.

Efecto de la dieta nórdica en el control de los factores de riesgo de enfermedad cardiovascular: Revisión sistemática

RESUMEN Introducción: El patrón de dieta nórdica (DN) se ha propuesto e implementado como otra alternativa saludable a la clásica dieta mediterránea, tanto para el diario vivir de la población como también para el control y tratamiento de las enfermedades cardiovasculares. Objetivo: Revisar la evidencia científica actualmente publicada sobre la asociación entre el consumo del patrón de la DN y su efecto protector en los factores de riesgo cardiovascular. Material y Métodos: Se realizó una búsqueda electrónica de la literatura científica, usando palabras clave, basada en estudios clínicos controlados (ECA), aleatorizados, estudios de caso y control, publicados en PubMed y Cochrane desde el 2010 hasta la fecha. Se incluyeron: sujetos adultos de ambos sexos, con factores de riesgo cardiovascular como sobrepeso, dislipidemia, hipertensión arterial y/o resistencia a la insulina. Resultados: De los 5 ECA incluidos en esta revisión, se demostró que la DN reduce significativamente los niveles de LDL-C, el radio LDL/HDL y apoB/apoA, además de reducir significativamente el peso corporal y la circunferencia de cintura. En cuanto a los niveles de triglicéridos, VLDL, la sensibilidad a la insulina y la presión arterial, sólo un estudio demostró los efectos favorablemente significativos de estas variables y el estudio Sysdiet, logró demostrar el efecto antiinflamatorio de este patrón de dieta. Conclusión: La DN tiene efectos considerablemente beneficiosos sobre diferentes factores de riesgo cardiovascular como la obesidad, la dislipidemia y la inflamación por lo que resulta una alternativa saludable adicional a la dieta la Mediterránea o la dieta DASH en el control y prevención de las enfermedades cardiovasculares.

ABSTRACT Introduction: The Nordic Diet has been proposed and implemented as another healthy alternative to the classic Mediterranean diet, both for daily living and also for the control and treatment of cardiovascular diseases. Objective: To review the scientific evidence currently published on the association between the uptake of the Nordic Diet (ND) and its protective effect for cardiovascular risk. Methods: An electronic search of the scientific literature was performed, using keywords, based on randomized controlled clinical trials and case-control studies, published in PubMed and Cochrane from 2010 to date. We included: adult subjects of both sexes, with cardiovascular risk factors such as overweight, dyslipidemia, high blood pressure and/or insulin resistance. Results: Of the five randomized controlled clinical trials included in this review, the ND significantly reduces levels of LDL-C, LDL/HDL ratio, and apoB/apoA ratio, in addition to significantly reducing body weight and waist circumference. Regarding triglyceride levels, VLDL, insulin sensitivity and blood pressure, only one study demonstrated significantly favorable effects of these variables and the Sysdiet study was able to demonstrate an anti-inflammatory effect of the ND. Conclusion: The ND has considerably beneficial effects on different cardiovascular risk factors such as obesity, dyslipidemia and inflammation, making it an additional healthy alternative to the Mediterranean diet or the DASH diet in the control and prevention of cardiovascular diseases.

Consumo de lácteos y riesgo de cáncer colorrectal: Una revisión de la literatura científica

RESUMEN El cáncer colorrectal (CCR) es una de las neoplasias más frecuentes y representa una de las principales causas de muerte por cáncer en todo el mundo. Existen fuertes evidencias que factores dietarios influyen en su incidencia. Los lácteos han sido incorporados en numerosas guías nutricionales como parte de una dieta saludable; numerosos estudios han reportado un efecto protector entre el consumo de lácteos y el riesgo de cáncer colorrectal, presuntamente por su contenido de calcio (Ca); sin embargo, la evidencia es inconsistente. Objetivo: Evaluar la evidencia científica actual sobre la relación entre el consumo de lácteos y el riesgo de cáncer colorrectal. Metodología: Se realizó una búsqueda sensible en las bases de datos de PudMed, limitándose a artículos en inglés desde el 2014 hasta el 2019, priorizando estudios de cohorte y caso-control con exposición a productos lácteos como leche, yogurt, mantequilla y/o queso. Se encontró una asociación inversa significativa entre el consumo de productos lácteos totales y el riesgo de cáncer colorrectal. Con relación al calcio proveniente de los lácteos los resultados son inconsistentes. Solo la leche, como lácteo específico, mostró un efecto protector pero no discrimina según el contenido de grasa. La mayor ingesta de productos lácteos totales, la leche y el calcio están asociados con una disminución del riesgo de cáncer colorrectal.

ABSTRACT Colorectal cancer (CRC) is one of the most common malignancies and represents one of the leading causes of cancer death worldwide. There is strong evidence that dietary factors influence CRC incidence. Dairy products have been incorporated into nutritional guidelines as part of a healthy diet; many studies have reported a protective effect between dairy consumption and the risk of colorectal cancer, presumably because of its calcium (Ca) content; however, the evidence is inconsistent. Objective: To evaluate the current scientific evidence on the relationship between dairy consumption and the risk of colorectal cancer. Methodology: A literature search was conducted in the PudMed databases, limited to articles written in English and published between 2014 and November 2019, prioritizing cohort and case-control studies with exposure to dairy products such as milk, yogurt, butter and/or cheese. Results: A significant inverse association was found between the consumption of total dairy products and risk of colorectal cancer. In relation to calcium from dairy products, results are inconsistent. Only milk, as a specific dairy product, showed a protective effect, with no difference by fat content. Conclusions: Increased intake of total dairy products, milk and calcium are associated with a decreased risk of colorectal cancer.

Relationship between adiponectin, TNFα, and SHBG in prepubertal children with obesity.

BACKGROUND: Sex hormone-binding globulin (SHBG) levels are low in adult subjects with obesity when compared to normal-weight individuals. Obesity is associated with higher tumor necrosis factor alpha (TNFα) plasma levels and lower adiponectin levels. Moreover, we have recently elucidated the molecular mechanisms by which TNFα and adiponectin regulate hepatic SHBG production. AIM: The main objective of this study was to assess if the adult associations between TNFα, adiponectin, and SHBG are present in prepubertal children. METHODS: We determined several morphometric and biochemical parameters in normal-weight (n=15) and obese prepubertal (n=51) children, as well as quantified plasma SHBG, TNFα receptor 1 (TNFα-R1), and adiponectin levels. RESULTS: Our results showed that prepubertal children with obesity had decreased plasma SHBG levels compared to normal-weight controls (67 nmol/L vs 172 nmol/L). Importantly, SHBG plasma levels correlated significantly (P < 0.05) with TNFα (negatively, ßstd= - 0.31) and adiponectin (positively, ßstd= 0.58) suggesting an important role of these two cytokines in determining plasma SHBG levels in prepubertal children. CONCLUSIONS: Our results suggest that plasma adiponectin levels may play a more important role than TNFα in influencing plasma SHBG levels in our prepubertal population with obesity.