Cardio-metabolic parameters are associated with genetic admixture estimates in a pediatric population from Colombia.

BACKGROUND: There are different genetic patterns for cardio-metabolic parameters among different populations. Additionally, it has been found that ancestral genetic components (the proportion of Amerindian, European and African) in admixed Latin American populations influence an individual's susceptibility to cardio-metabolic disorders. The aim of this study was to evaluate the effect of ancestral genetic composition on a series of cardio-metabolic risk factors in a young admixed population from Colombia. RESULTS: In a sample of 853 Colombian youth, 10 to 18 years old, the mean European contribution was 66.6 % (range: 41-82 %), the mean African contribution was 14 % (range: 4-48 %), and the mean Amerindian contribution was 19.4 % (range: 10-35 %) using a panel of 40 autosomal ancestry-informative markers (AIMs). We assessed the degree of association between ancestral African, Amerindian and European genetic components and measures of body mass index, waist circumference, fasting glucose, fasting insulin, insulin resistance, triglycerides, high-density lipoprotein, and systolic and diastolic blood pressure. Two of the nine measures assessed presented a nominal significant association with ancestral components after adjusting for confounding variables: triglyceride levels were associated with the Amerindian component (OR = 1.06, 98.3 % CI = 1.01-1.11, P = 0.002) and systolic blood pressure was associated with the European component (OR = 0.93, 98.3 % CI = 0.87 to 0.99, P = 0.008) and the African component (OR = 1.07, CI = 1.01-1.14 P = 0.008), although it was not significant following a global Bonferroni correction. Additionally, insulin levels and insulin resistance showed associations with the African component. CONCLUSIONS: Our findings support the idea that an Amerindian ancestral component may act as a risk factor for high triglyceride levels. In addition, an African ancestral component confers a risk for high systolic blood pressure, and a European ancestry serves as a protective factor for this condition in a young admixed population from Colombia. However, these results should be confirmed in a larger population.

Beyond Limb Salvage: Limb Restoration Efforts Following Remote Combat-Related Extremity Injuries Optimize Outcomes and Support Sustained Surgical Readiness.

INTRODUCTION: As the combat operational tempo of the military conflicts in Iraq and Afghanistan has declined over the last decade, there has been a decrease in the number of patients requiring acute limb salvage. In their place, a growing population of patients with persistent functional deficits, pain, and inadequate soft tissue coverage stemming from prior limb salvage strategies have returned to our institution seeking revision surgery. Herein, we examine our institution's evolving surgical approach to extremity reconstruction from 2011 through 2019, culminating in the development of our limb restoration concept. We also discuss the impact of this orthoplastic approach on the acute management of complex extremity trauma and its role in providing sustained surgical readiness during interwar years. MATERIALS AND METHODS: We retrospectively reviewed all limb reconstructive procedures performed at our tertiary care military treatment facility between September 1, 2011 to December 31, 2019 to characterize the trends in extremity reconstruction procedures performed at our institution. Cases were identified as limb restoration procedures if they involved secondary/revision reconstructive procedures designed to optimize function, treat pain, or improve the durability of the injured extremity following initial reconstruction efforts. RESULTS: Nearly 500 limb restoration procedures were performed during the study period. These procedures steadily increased since 2011, reaching a maximum of 120 in 2018. Orthoplastic procedures such as osseointegration, targeted muscle reinnervation, regenerative peripheral nerve interface, agonist-antagonist myoneural interface, and soft tissue resurfacing flap reconstruction accounted for the rise in secondary/revision reconstruction performed during this time period. CONCLUSION: Limb restoration is a collaborative orthoplastic approach that utilizes state-of-the-art surgical techniques for treating complex extremity trauma. Although limb restoration originally developed in response to managing the long-term sequelae of combat extremity trauma, the concept can be adapted to the acute management setting. Moreover, limb restoration provides military surgeons with a means for maintaining critical war-time surgical skills during the current low casualty rate era. Level of Evidence: V, therapeutic.

Managing Complex Peripheral Nerve Injuries Within the Military Health System: A Multidisciplinary Approach to Treatment, Education, and Research at Walter Reed National Military Medical Center.

INTRODUCTION: Peripheral nerve injuries are a leading cause of disability within the Military Health System (MHS) patient population. Many peripheral nerve injuries (PNIs) are amenable to therapeutic intervention but require a timely diagnosis and prompt referral to a specialty center capable of intervention, as functional outcomes are directly related to the duration between injury and intervention. Even when appropriately identified, PNI management in the MHS is often challenged by the lack of an established pathway for care coordination and a limited awareness of available diagnostic and therapeutic resources. To address these potential shortcomings, the Walter Reed National Military Medical Center Peripheral Nerve Program (WRNMMC PNP) in Bethesda, MD, has been established to provide comprehensive, multidisciplinary care to peripheral nerve-injured patients across the MHS. Additionally, the WRNMMC PNP provides graduate medical education training in PNI management for multiple residency and fellowship programs, and it facilitates critical peripheral nerve research to advance knowledge within the field. MATERIALS AND METHODS: A retrospective review of all patients evaluated by the WRNMMC PNP between December 2015 and April 2019 was conducted in order to identify pertinent patient demographic information, referral patterns, and PNI etiology data. RESULTS: The WRNMMC PNP evaluated 356 patients consisting of active duty, dependents, retirees, and Veterans Affairs patients during the designated study period. These patients were referred by providers from more than nine different specialties from 78 commands across eight countries. The majority of these patients (222 patients) were referred for traumatic PNI. The WRNMMC PNP has also evaluated and treated patients with PNIs stemming from congenital and compressive etiologies. One hundred and one patients referred during this period were treated with surgery, while the remainder were managed through nonoperative means. CONCLUSIONS: The WRNMMC PNP facilitates comprehensive, patient-centered care for PNI patients within the MHS. Moreover, the program helps to prepare the next generation of providers for evaluating and treating PNI patients through its involvement with graduate medical education training. It also conducts critical peripheral nerve research and lays the foundation for collaborations with other institutions involved with peripheral nerve research. In the years ahead, the WRNMMC PNP aims to expand its outreach and capabilities within the MHS through more expansive use of telemedicine consultation and the establishment of satellite peripheral nerve clinic sites.

Study Exploring the Effects of Daily Supplementation with 400 µg of Folic Acid on the Nutritional Status of Folate in Women of Reproductive Age.

BACKGROUND: This investigation determines the nutritional state of serum and red blood cell (RBC) folate concentration and their relation with intake of folate, B6 ,and B12 , with serum vitamin B12 , and with genetic variants after provision of 400 µg/day of folic acid for 3 months to a group of 34 Colombian women of reproductive age. METHODS: We evaluated nutrient intake using 24-hr recall, assessing the levels of serum folate, RBC folate, serum B12 , and homocysteine, as well as determining genetic variants of the enzyme MTHFR (C677T and A1298C) and CßS (844ins68pb). RESULTS: The results show that following intake of 400 µg/day of folic acid, the risk of folate deficiency as seen in regular dietary intake disappears and the nutritional status of this nutrient is increased (p < 0.001). With respect to vitamin B12, the risk of serum deficiency with folic acid consumption increased slightly, and those that were found to be B12 deficient after supplementation also had decreased levels of serum homocysteine. Genetic factors did not influence the nutritional status of folate, although an association was found between the intake of nutrients and biochemical indicators. CONCLUSION: Given the results of our study, subsequent studies evaluating folic acid supplementation should also consider evaluating the status of B12 and B6 , and serum and RBC folate, as they participate interdependently in the cycle of folate and methionine and in homocysteine metabolism.Birth Defects Research 109:564-573, 2017.© 2017 Wiley Periodicals, Inc.

Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics.

PURPOSE: There is a critical need for population-based prospective cohort studies because they follow individuals before the onset of disease, allowing for studies that can identify biomarkers and disease-modifying effects, and thereby contributing to systems epidemiology. PARTICIPANTS: This paper describes the design and baseline characteristics of an intensively examined subpopulation of the LifeLines cohort in the Netherlands. In this unique subcohort, LifeLines DEEP, we included 1539 participants aged 18 years and older. FINDINGS TO DATE: We collected additional blood (n = 1387), exhaled air (n = 1425) and faecal samples (n = 1248), and elicited responses to gastrointestinal health questionnaires (n = 1176) for analysis of the genome, epigenome, transcriptome, microbiome, metabolome and other biological levels. Here, we provide an overview of the different data layers in LifeLines DEEP and present baseline characteristics of the study population including food intake and quality of life. We also describe how the LifeLines DEEP cohort allows for the detailed investigation of genetic, genomic and metabolic variation for a wide range of phenotypic outcomes. Finally, we examine the determinants of gastrointestinal health, an area of particular interest to us that can be addressed by LifeLines DEEP. FUTURE PLANS: We have established a cohort of which multiple data levels allow for the integrative analysis of populations for translation of this information into biomarkers for disease, and which will offer new insights into disease mechanisms and prevention.

Variations in the prevalence of metabolic syndrome in adolescents according to different criteria used for diagnosis: which definition should be chosen for this age group?

BACKGROUND: Despite the increasing prevalence of metabolic syndrome in adolescents, there is no consensus for its diagnosis. METHODS: A cross-sectional study was conducted to compare the prevalence of metabolic syndrome in adolescents by different definitions, evaluate their concordance, and suggest which definition to apply in this population. A total of 851 adolescents between 10 and 18 years of age were evaluated. Anthropometric (weight, height, waist circumference), biochemical (glucose, lipid profile), and blood pressure data were taken. The prevalence of metabolic syndrome was determined by the definitions of the International Diabetes Federation (IDF) and four published studies by Cook et al., de Ferranti et al., Agudelo et al., and Ford et al. Concordance was determined according to the kappa index. RESULTS: The prevalence of metabolic syndrome was 0.9%, 3.8%, 4.1%, 10.5%, and 11.4%, according to the IDF, Cook et al., Ford et al., Agudelo et al., and de Ferranti et al. definitions, respectively. The most prevalent components were hypertriglyceridemia and low high-density lipoprotein cholesterol, whereas the least prevalent components were abdominal obesity and hyperglycemia. The highest concordance was found between the definitions by Cook et al. and Ford et al. (kappa=0.92), whereas the greatest discordance was between the de Ferranti et al. and IDF definitions (kappa=0.14). CONCLUSIONS: Metabolic syndrome and its components were conditions present in the adolescents of this study. In this population, with a high prevalence of dyslipidemia and a lower prevalence of abdominal obesity and hyperglycemia, the recommendation to diagnose metabolic syndrome would be that used by Ford et al.

Variant in CAPN10 gene and environmental factors show evidence of association with excess weight among young people in a Colombian population.

UNLABELLED: Introduction : Obesity results from interaction between genetic and environmental risk factors. OBJECTIVE: To evaluate the effect of three gene variants and environmental factors on obesity and overweight in young people aged 10 to 18 years in a Colombian population. MATERIALS AND METHODS: A total of 424 subjects were selected and separated into three groups for a cross-sectional study; 100 obese and 112 overweight subjects were matched with 212 normal-weight controls. Associations were evaluated between excess weight and three genetic polymorphisms ( UCP3- rs1800849, FTO -rs17817449, and CAPN10 -rs3842570), as well as the family history, the time spent watching television and playing video games, and the diet. RESULTS: A family history of obesity, the time spent watching television and playing video games, the lack of breastfeeding, a low consumption of cereals, legumes, fruits, vegetables, and a high consumption of fast foods were characteristics typically found in obese individuals compared to controls. A significant association between genotype I/I (SNP19 of CAPN10 ) and excess weight was found even with an active lifestyle. In addition, significant associations between the C/C genotype of the UCP3 gene and the G/G and T/T genotypes of the FTO gene and excess weight were found only in young sedentary individuals. CONCLUSIONS: In this population, inadequate diet and sedentary lifestyle increased the risk of excess weight. Genotype I/I of SNP19 in CAPN10 was significantly associated with excess weight. In contrast, FTO and UCP3 variants exhibited effects only in sedentary environments.

Factores determinantes del estado nutricional del folato y el rol de la variante genética C677T de la enzima metilen tetrahidrofolato reductasa (MTHFR) / Determinants of folate nutritional status and the role of the genetic variation of C677T methylene tetrahydrofolate reductase (MTHFR) enzyme

Folate is an essential nutrient because mammals lack biological activity to synthesize. It different factors generate folate deficiency. Recent studies have identified that the C677T variant of the enzyme methylene tetrahydrofolate reductase (MTHFR), can play a role in serum folate concentrations (SFC) and red cell folate (RCF). The aim of this rewiev was to actualice some generalities of folate metabolism, factors related to its deficiency biochemical indicators used to assess the nutritional status of folate and role of the C677T polymorphism of the MTHFR enzyme on the cycle of folate and methionine. It is necessary to design studies with representative samples corroborating the effect of polymorphisms on biochemical indicators of nutritional status of folate and determine the dose-response effect and contribute to modify the nutritional recommendations with the necessary scientific evidence.

El folato es un nutriente esencial porque los mamíferos carecen de actividad biológica para sintetizarlo. Diferentes factores generar deficiencia de folato. Estudios recientes han identificado que la variante C677T de la enzima metilen tetrahidrofolato reductasa (MTHFR), puede jugar un papel en las concentraciones de folato sérico (FS) y eritrocitario (FE). El objetivo de este trabajo fue revisar algunas generalidades del folato, su metabolismo, los factores relacionados con su deficiencia, los indicadores bioquímicos utilizados para evaluar el estado nutricional del folato y el papel del polimorfismo C677T de la enzima MTHFR sobre el ciclo del folato y de la metionina. Es necesario diseñar estudios con muestras representativas que corroboren el efecto de los polimorfismos sobre los indicadores bioquímicos del estado nutricional del folato y determinar el efecto dosis-respuesta y así contribuir con la evidencia científica necesaria para modificar las recomendaciones nutricionales.

Basic anthropometry and health status of elderly: findings of the Maracaibo Aging Study.

OBJECTIVE: Determine basic anthropometry for elderly participants in a Venezuelan community and compare results for subgroups with different health status. METHOD: Standardized anthropometric, nutritional, neurological, neuropsychiatric, and cardiovascular assessments generated data on weight, height, and body mass index (BMI) by sex and age for the total sample, for normative groups without health problems that might impact anthropometry, and for reference groups with no major health problems. Centile curves of anthropometric measurements versus age are determined for women and men in the normative group. RESULTS: Mean weight and height are significantly different between sexes, but not BMI. All three parameters show gradual declines with age. The mean 90% central interval for BMI in the normative and reference groups is 20-29 kg/m(2). CONCLUSION: The anthropometric data for healthy elderly Venezuelans can be used in monitoring anthropometric changes and disease risk analysis for this population and possibly for other Latin American populations.

Variant in CAPN10 gene and environmental factors show evidence of association with excess weight among young people in a Colombian population / Una variante del gen CAPN10 y los factores ambientales muestran asociación con el exceso de peso en jóvenes colombianos.

Introduction : Obesity results from interaction between genetic and environmental risk factors. Objective: To evaluate the effect of three gene variants and environmental factors on obesity and overweight in young people aged 10 to 18 years in a Colombian population. Materials and methods: A total of 424 subjects were selected and separated into three groups for a cross-sectional study; 100 obese and 112 overweight subjects were matched with 212 normal-weight controls. Associations were evaluated between excess weight and three genetic polymorphisms ( UCP3- rs1800849, FTO -rs17817449, and CAPN10 -rs3842570), as well as the family history, the time spent watching television and playing video games, and the diet. Results: A family history of obesity, the time spent watching television and playing video games, the lack of breastfeeding, a low consumption of cereals, legumes, fruits, vegetables, and a high consumption of fast foods were characteristics typically found in obese individuals compared to controls. A significant association between genotype I/I (SNP19 of CAPN10 ) and excess weight was found even with an active lifestyle. In addition, significant associations between the C/C genotype of the UCP3 gene and the G/G and T/T genotypes of the FTO gene and excess weight were found only in young sedentary individuals. Conclusions: In this population, inadequate diet and sedentary lifestyle increased the risk of excess weight. Genotype I/I of SNP19 in CAPN10 was significantly associated with excess weight. In contrast, FTO and UCP3 variants exhibited effects only in sedentary environments.

Introducción. La obesidad resulta de la interacción entre factores de riesgo genéticos y ambientales. Objetivo. Evaluar el efecto de tres variantes genéticas y factores ambientales en el exceso de peso en jóvenes de 10 a 18 años de Medellín, Colombia. Materiales y métodos. Se hizo un estudio transversal en 424 jóvenes divididos en tres grupos: 100 obesos, 112 jóvenes con sobrepeso, y, pareados con ellos, 212 jóvenes con peso adecuado, que conformaron el grupo de control. Se evaluó la asociación entre tres polimorfismos genéticos ( UCP3 -rs1800849, FTO -rs17817449 y CAPN10 -rs3842570) y el exceso de peso, así como su interacción con antecedentes familiares de enfermedad, el tiempo dedicado a ver televisión y a jugar videojuegos y el consumo de alimentos. Resultados. Los antecedentes familiares de obesidad, la dedicación de más de dos horas al día a ver televisión y jugar videojuegos, la falta de lactancia materna, el bajo consumo de cereales, legumbres, frutas y verduras y el gran consumo de comidas rápidas fueron más frecuentes entre los obesos que en los controles. Se observó una asociación significativa entre el genotipo I/I (SNP19 del CAPN10 ) y el exceso de peso, incluso en los jóvenes que llevaban una vida activa. Además, se encontró una asociación significativa entre los genotipos C/C del UCP3 y G/G y T/T del FTO y el exceso de peso, pero solo en los jóvenes sedentarios. Conclusiones. En esta población, la alimentación inadecuada y el sedentarismo aumentaron el riesgo de exceso de peso. El genotipo I/I de SNP19 del CAPN10 se asoció significativamente con el exceso de peso. Algunas variantes del FTO y el UCP3 mostraron tener efecto solo en jóvenes sedentarios.