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.

Controlled Release of Phycocyanin in Simulated Gastrointestinal Conditions Using Alginate-Agavins-Polysaccharide Beads.

C-phycocyanin (CPC) is an antioxidant protein that, when purified, is photosensitive and can be affected by environmental and gastrointestinal conditions. This can impact its biological activity, requiring an increase in the effective amount to achieve a therapeutic effect. Therefore, the aim of this study was to develop a microencapsulate of a complex matrix, as a strategy to protect and establish a matrix for the controlled release of CPC based on polysaccharides such as agavins (AGV) using ionic gelation. Four matrices were formulated: M1 (alginate: ALG), M2 (ALG and AGV), M3 (ALG, AGV, and κ-carrageenan: CGN), and M4 (ALG, AGV, CGN, and carboxymethylcellulose: CMC) with increasing concentrations of CPC. The retention and diffusion capacities of C-phycocyanin provided by each matrix were evaluated, as well as their stability under simulated gastrointestinal conditions. The results showed that the encapsulation efficiency of the matrix-type encapsulates with complex composites increased as more components were added to the mixtures. CMC increased the retention due to the hydrophobicity that it provides by being in the polysaccharide matrix; CGN enabled the controlled diffusive release; and AGV provided protection of the CPC beads under simulated gastrointestinal conditions. Therefore, matrix M4 exhibited an encapsulation efficiency for CPC of 98% and a bioaccessibility of 10.65 ± 0.65% after the passage of encapsulates through in vitro digestion.

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.

Estudio ecológico de la sífilis gestacional y congénita en Colombia, 2012-2018 / Ecological study of gestational and congenital syphilis in Colombia, 2012-2018

Objetivos: Describir el comportamiento de la sífilis gestacional y congénita en Colombia, entre el 2012 y 2018, a partir de registro de notificación Nacional. Materiales y Métodos: Estudio ecológico, exploratorio a partir de Notificaciones al sistema de vigilancia de salud Pública. Se estimaron la tasa de incidencia y la razón de prevalencia para cada departamento. Se establecieron cada una las estimaciones según rangos, para los 33 departamentos evaluados y se expresaron en mapas a escala de grises según tasas y razones evaluadas. Además, se presentan curvas epidemiológicas por semanas notificación para sífilis gestacional y congénita. Resultados. Arauca, Santander, Cesar y Caldas, presentaron el mayor incremento entre 2012 y 2018 para sífilis gestacional. Para el mismo periodo, Santander, Casanare y Amazonas presentaron un aumento para sífilis Congénita, mientras que en los demás departamentos se evidenció una disminución en los eventos. Se encontraron diferencias significativas en el reporte de casos entre un año y otro, para el país, en ambos eventos (p< 0,001). Conclusiones. En Colombia se encontró un aumento de sífilis gestacional, mientras, para sífilis congénita existió variabilidad con tendencia a aumentar en los últimos años.

Objective: To describe the behavior of pregnancy and congenital syphilis in Colombia between 2012 and 2019 according to national notifications records. Materials and Methods: An ecological exploratory study was conducted based on notifications to the public health surveillance system. The incidence rate and prevalence ratio were estimated for each department. Each estimate was established per ranges for 33 departments evaluated and expressed in grayscale maps based on rates and ratios evaluated. Epidemic curves by week of notification for pregnancy and congenital syphilis are also shown. Results: Arauca, Santander, Cesar and Caldas had the highest increase in pregnancy syphilis between 2012 and 2019 while Santander, Casanare and Amazonas had an increase in congenital syphilis during the same period. Other departments had a decrease in these events. Significant differences were found in case reporting from year to year in both events in the country (p<0.001). Conclusions: In Colombia, an increase in pregnancy syphilis was found while a variability with an increasing trend was found for congenital syphilis in recent years.

Objetivos: Descrever o comportamento da sífilis gestacional e congênita na Colômbia entre 2012 e 2019, com base nos registros nacionais de notificação.Materiais e Métodos: Estudo ecológico, exploratório, baseado em notificações ao sistema de vigilância sanitária pública. A taxa de incidência e a taxa de prevalência foram estimadas para cada departamento. As estimativas foram estabelecidas de acordo com intervalos para os 33 departamentos avaliados e expressas em mapas em escala de cinza, de acordo com as taxas e rácios avaliados. Além disso, curvas epidemiológicas por semanas de notificação são apresentadas para sífilis gestacional e congênita. Resultados: Arauca, Santander, Cesar e Caldas apresentaram o maior aumento entre 2012 e 2019 para a sífilis gestacional. No mesmo período, Santander, Casanare e Amazonas mostraram um aumento para a sífilis congênita, enquanto os outros departamentos mostraram uma diminuição nos eventos. Foram encontradas diferenças significativas no relato de casos de um ano para o outro, para o país, em ambos os eventos (p<0,001). Conclusões. Na Colômbia, houve um aumento da sífilis gestacional, enquanto para a sífilis congênita houve variabilidade com tendência a aumentar nos últimos anos.

Kinetics and Mechanisms of Saccharomyces boulardii Release from Optimized Whey Protein-Agavin-Alginate Beads under Simulated Gastrointestinal Conditions.

Encapsulation is a process in which a base material is encapsulated in a wall material that can protect it against external factors and/or improve its bioavailability. Among the different encapsulation techniques, ionic gelation stands out as being useful for thermolabile compounds. The aim of this work was to encapsulate Saccharomyces boulardii by ionic gelation using agavins (A) and whey protein (WP) as wall materials and to evaluate the morphostructural changes that occur during in vitro gastrointestinal digestion. Encapsulations at different levels of A and WP were analyzed using microscopic, spectroscopic and thermal techniques. Encapsulation efficiency and cell viability were evaluated. S. boulardii encapsulated at 5% A: 3.75% WP (AWB6) showed 88.5% cell survival after the simulated gastrointestinal digestion; the bead showed a significantly different microstructure from the controls. The mixture of A and WP increased in the survival of S. boulardii respect to those encapsulated with alginate, A or WP alone. The binary material mixture simultaneously allowed a controlled release of S. boulardii by mostly diffusive Fickian mechanisms and swelling. The cell-release time was found to control the increment of the Damköhler number when A and WP were substrates for S. boulardii, in this way allowing greater protection against gastrointestinal conditions.

La trazabilidad en las mediciones del laboratorio clínico: impacto en la calidad y seguridad del paciente / Traceability in clinical laboratory measurements: impact on quality and patient safety

Las mediciones confiables, trazables metrológicamente y comparables proporcionan la base racional para la evaluación de la calidad de un resultado y el fortalecimiento de las redes de laboratorios clínicos, lo cual permite mejorar la calidad de atención y la seguridad del paciente. En este documento se revisan los principios básicos que deben seguirse para garantizar la trazabilidad de las mediciones del laboratorio clínico, las ventajas de utilizar métodos trazables, el impacto de no hacerlo, y se discuten las principales limitaciones para relacionar las mediciones con los estándares de medición de referencia apropiados

Reliable, metrologically traceable, and comparable measurements provide the rationale for evaluating the quality of a result and strengthening clinical laboratory networks, thereby improving quality of care and patient safety. This document reviews the basic principles that must be followed to ensure the traceability of clinical laboratory results, the advantages of using traceable methods, the impact of not doing so, and the main limitations in relating measurements to appropriate reference standards

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.

Clinical outcome of patients with COVID-19 Pneumonia treated with corticosteroids and colchicine in Colombia.

BACKGROUND: To date, there is no specific antiviral therapy for severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) that causes Coronavirus disease 2019 (Covid-19). Since there is no specific therapy against SARS-CoV2, current efforts aim to prevent contagion through public health measures and develop a protective vaccine. While waiting for the latter, it is necessary to evaluate the drugs that at least, in initial studies, suggested some degree of utility in the management of Covid-19 or its complications. The main objective of the study was to describe the clinical manifestations and outcomes of patients with severe Covid-19 Pneumonia treated with corticosteroids and colchicine. MATERIALS AND METHODS: A cross sectional study of 301 adult patients with Covid-19 Pneumonia confirmed by Real-Time Polymerase Chain Reaction for SARS-CoV2 (RT-PCR SARS-CoV2), Berlin protocol, who required hospitalization in three hospitals in Antioquia, Colombia. Patients were treated according to the institutional protocol (from March 20, 2020 to June 30, 2020) with corticosteroid if the patient required supplemental oxygen. From July 1, 2020, the management protocol changed with the addition of colchicine to all patients admitted to the institutions. The treatment was supervised and monitored by the same specialist in Infectology of the institutions. We describe the clinical manifestations and outcomes of the patients who received these treatments. The information of the patients was analyzed according to the outcome of interest (alive/dead) with univariate, bivariate, and multivariate measures to adjust the variables that presented statistical association. RESULTS: All patients had pneumonia documented by chest computed tomography with ground glass images and presented an alveolar pressure/inspired oxygen fraction (PaFi) less than 300. Three hundred one patients were included, 240 (79.7%) received corticosteroids, within these 145 (48.2%) received colchicine also, and the remaining 61 (20.3%) patients did not receive corticosterioids or colchicine. Mortality in the group that received colchicine was lower compared to the group that did not receive it (9.6 vs 14.6%, p-value = 0.179). CONCLUSIONS: Treatment with corticosteroids and colchicine for managing patients with severe Covid-19 Pneumonia was associated with low mortality at the hospital level. Randomized, placebo-controlled studies are required to evaluate the effect of corticosteroids and colchicine on complications or death from Covid-19.

Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.

Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched-chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (BCKDHA) or beta (BCKDHB) subunits or the acyltransferase component (DBT). Treatment consists in leucine (LEU), isoleucine (ILE), and valine (VAL) (branched-chain amino acids) dietary restriction and strict metabolic control. to determine the characteristics of the Chilean cohort with MSUD currently in follow-up at Instituto de Nutrición y Tecnología de los Alimentos, during the 1990-2017 period Retrospective analytical study in 45 MSUD cases. Measured: biochemical parameters (LEU, ILE, and VAL), anthropometric evaluation, and neurocognitive development. In 18 cases undergoing genetic study were analyzed according to the gene and protein location, number of affected alleles, and type of posttranslational modification affected. Then, 45 patients with MSUD diagnosis were identified during the period: 37 were alive at the time of the study. Average diagnosis age was 71 ± 231 days. Average serum diagnosis LEU concentrations: 1.463 ± 854.1 µmol/L, VAL 550 ± 598 µmol/L and ILE 454 ± 458 µmol/L. BCKDHB variants explain 89% cases, while BCKDHA and DBT variants explain 5.5% of cases each. Variants p.Thr338Ile in BCKDHA, p.Pro240Thr and p.Ser342Asn in BCKDHB have not been previously reported in literature. Average serum follow-up LEU concentrations were 252.7 ± 16.9 µmol/L in the <5 years group and 299 ± 123.2 µmol/L in ≥5 years. Most cases presented some degree of developmental delay. Early diagnosis and treatment is essential to improve the long-term prognosis. Frequent blood LEU measurements are required to optimize metabolic control and to establish relationships between different aspects analyzed.

Dexamethasone vs methylprednisolone high dose for Covid-19 pneumonia.

BACKGROUND: There is no effective therapy for the severe acute respiratory syndrome by coronavirus 2 (SARS-CoV2) responsible for the Coronavirus disease 2019 (Covid-19). To date, dexamethasone has shown a decrease in mortality in patients who require oxygen, especially those with invasive mechanical ventilation. However, it is unknown if another corticosteroid can be used, the optimal dose and its duration, to achieve a better clinical outcome. The objective of the study was to compare the differences in clinical outcome and laboratory results in hospitalized patients with severe SARS-CoV2 Pneumonia treated with dexamethasone at 6 mg doses versus patients treated with high-dose methylprednisolone. MATERIALS AND METHODS: Ambispective cohort study with survival analysis of 216 patients diagnosed with severe Covid-19 pneumonia confirmed by polymerase chain reaction for SARS-CoV2 by Berlin protocol, who were hospitalized in a high-complexity clinic in Medellín, Colombia. The patients should also have supplementary oxygen and radiological confirmation of Pneumonia by chest tomography. Sample size was not calculated since the total population that met the inclusion criteria was evaluated. 111 patients were treated with the institutional protocol with intravenous dexamethasone 6 mg QD for seven to 10 days if they required oxygen. Since September 15, 2020, the hospitalization protocol of the clinic was modified by the Infectious Diseases and Pulmonology service, recommending a high dose of methylprednisolone of 250 to 500 mg every day for three days with a subsequent change to oral prednisone 50 mg every day for 14 days. The protocol was not applied in the intensive care unit, where dexamethasone continued to be administered. The clinical outcome and differences in laboratory results of the patients who received dexamethasone vs. the prospective cohort that received methylprednisolone from September 15 to October 31, 2020, were evaluated. Follow-up was carried out by outpatient consultation one month after discharge or by telephone, inquiring about readmission or living-dead status. RESULTS: 216 patients had Covid-19 pneumonia documented by ground-glass imaging and alveolar pressure / inspired oxygen fraction (PaFi) less than 300. 111 patients received dexamethasone (DXM) and 105 received methylprednisolone (MTP). Patients in the DXM group evolved to severe ARDS in a higher proportion (26.1% vs 17.1% than the MTP group). Upon completion 4 days of treatment with parenteral corticosteroid, laboratory markers of severity decreased significantly in the group that received MTP, CRP 2.85 (2.3-3.8) vs 7.2 (5.4-9.8), (p-value < 0.0001), D-dimer 691 (612-847) vs 1083 (740-1565) (p-value = 0.04) and DHL 273 (244-289) vs 355 (270.6-422) (p-value = 0.01). After starting the corticosteroid, transfer to the intensive care unit (4.8% vs. 14.4%) and mortality (9,5% vs. 17.1%) was lower in the group that received MTP. Recovery time was shorter in patients treated with MTP, three days (3-4) vs. DXM 6 days (5-8) (p-value < 0.0001). At 30-day follow-up, 88 (92.6%) were alive in MTP vs 58 (63.1%) of those who received dexamethasone. CONCLUSIONS: In this study, the treatment of severe Covid-19 Pneumonia with high-dose methylprednisolone for three days followed by oral prednisone for 14 days, compared with 6 mg dexamethasone for 7 to 10 days, statistically significantly decreased the recovery time, the need for transfer to intensive care and the severity markers C-reactive protein (CRP), D-dimer and LDH. Randomized controlled studies with methylprednisolone are required to corroborate its effect, and studies in a population hospitalized in intensive care wards.

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

Abstract Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms. The treatment consists of a low lysine (Lys) diet, protein substitute lys-free, tryptophan-reduced (PS) and L-carnitine. Objectives: Describe the clinical and nutritional evolution of a cohort of GA-1 patients at a national referral center in Chile. Methodology: Retrospective study of 24 patients diagnosed with GA-1 between 1998-2020 and referred to the Institute of Nutrition and Food Technology (INTA) of University of Chile. Results: Age at diagnosis was 19±27 months; 10/24 presented AEC and neurological sequelae. The cases without AEC (14/24) 8 presented neurological compromise: psychomotor development delay, abnormal movements and pyramidal syndrome. Nutritional evaluation: 12/24 were malnourished by deficiency, <6 years old group (12/24): 11 cases were found to have Lys and PS, ≥6 years old (12/24): 9/12 did not receive PS. All had normal free carnitine levels. Conclusion: GA-1 has variable symptoms with neurological involvement AEC or insidious start. Is essential to maintain a long-term follow-up and consider its inclusion in neonatal screening programs.

Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile.

We report the case of a 17-year-old girl with Tyrosinemia type 1a who carried a planned pregnancy to term while being under 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC, nitisinone) treatment and a tyrosine- and phenylalanine-restricted diet. She was on treatment since 2 months of age with poor metabolic control prior to her pregnancy (tyrosine 838 ± 106 umol/L). NTBC and a low tyrosine and phenylalanine diet were continued during her pregnancy. She unfortunately suffered from urinary tract infection and anemia during her pregnancy, with median plasma tyrosine and phenylalanine levels of 613 ± 106 umol/L (200-400 umol/L) and 40.2 ± 8 umol/L (35-90 umol/L), respectively. After 40 weeks of gestation, the patient gave birth to a healthy boy, with no adverse effects related to the use of NTBC. The newborn presented with a transitory elevation of plasma tyrosine levels and normal phenylalanine, methionine, and succinylacetone levels. By 12 months of age, the child was determined to have normal psychomotor development. At 20 months old, he was diagnosed with a mild developmental delay; however, global cognitive evaluation with the Wechsler Intelligence Scale for Children (WISC) test at 5 years old showed normal performance. Here, we discuss one of the few reported cases of nitisinone treatment during pregnancy and demonstrate a lack of teratogenicity and long-term cognitive disabilities.

Factors Associated with High Mercury Levels in Women and Girls from The Mojana Region, Colombia, 2013-2015.

Women are primarily exposed to mercury through the consumption of fish contaminated by gold mining activities. The main systems affected are the central nervous and renal systems, although effects on the reproductive system have also been found. Objective: To explore the relationship between mercury levels in women and their possible sources of contamination. A cross-sectional study was conducted from 2013 to 2015 with women residing in 11 municipalities in La Mojana, Colombia, using non-random sampling. Standardized instruments were used to identify sociodemographic characteristics, mercury use, mining-related activities, water and fish consumption, and other factors. Blood, urine, and hair samples were taken to quantify mercury levels. A logistic regression model was used to identify factors associated with elevated mercury values in the participants' samples. A total of 428 women were included, with an average age of 36.7 ± 16.7 years, 3.3% of whom were pregnant at the time of the survey and 8.4% of whom were exposed occupationally. High levels of mercury were present in 62.8% of the women, in any one of the three samples processed. Those exposed occupationally and environmentally had similar values (p = 0.821). Frequency of fish consumption and source of drinking water were associated with higher levels of mercury (p < 0.05).

Asociación entre la razón Tg/HDL y la Enfermedad Renal Crónica en una cohorte colombiana / Association between Tg/HDL ratio and Chronic Kidney Disease in a colombian cohort

Resumen Introducción: La Enfermedad Renal Crónica (ERC) supone un fuerte impacto en la salud pública mundial. Esto es debido al elevado riesgo de enfermedad cardiovascular que presentan quienes la padecen. La razón triglicéridos/ lipoproteína de alta densidad se ha asociado con el desarrollo y progresión de la enfermedad renal. Objetivo: Estimar la asociación entre la razón triglicéridos/lipoproteína de alta densidad y la incidencia de enfermedad renal en una cohorte colombiana. Metodología: Estudio de cohorte prospectiva del seguimiento de INEFAC 2007-2017, con 1626 participantes. Para determinar la exposición principal se tomó como punto de corte >3,75 en la razón. Los casos se definieron con una tasa de filtración glomerular estimada <60ml/min/1,73m2 o con diagnóstico médico previo. Se ajustaron modelos de regresión lineal y log-binomial para los cambios en la tasa estimada y la incidencia de enfermedad renal crónica. Como covariables: edad, sexo, raza, alcohol, cigarrillo, circunferencia de cintura y actividad física. Resultados: La incidencia de enfermedad renal fue de 0,4% (IC 95% 0,1-0,8), el promedio de la tasa estimada de 94,3 ml/min/1,73m2. La asociación entre la razón triglicéridos/lipoproteína de alta densidad y la enfermedad renal crónica no fue estadísticamente significativa en el modelo crudo (RR= 2,3; IC 95%: 0,5-9,4) ni en el ajustado por confusores (RR= 1,1; IC 95%: 0,2-5,6). Conclusión: A partir del modelo múltiple no fue posible determinar la asociación, probablemente porque ésta no existe en la población estudiada o porque se requiere una alta muestra debido al bajo número de eventos encontrados.

Abstract Introduction: Chronic Kidney Disease (CKD) has a strong impact on global public health. This is due to the high risk of cardiovascular disease in those who suffer from it. The triglycerides / high density lipoprotein ratio has been associated with the development and progression of kidney disease. Objective: To estimate the association between the ratio triglycerides / high density lipoprotein and the incidence of kidney disease in a Colombian cohort. Methodology: Prospective cohort study of the follow-up of INEFAC 2007-2017, with 1626 participants. The main exposure was determined as a cut-off point> 3.75 in the ratio. The cases were defined as having an estimated glomerular filtration rate <60ml / min / 1.73m2 or previous medical diagnosis. Linear regression and log-binomial models were adjusted for changes in the estimated rate and incidence of chronic kidney disease. As covariates: age, sex, race, alcohol, cigarette, waist circumference, and physical activity. Results: The incidence of kidney disease was 0.4% (95% CI: 0.1-0.8), the average of the estimated rate was 94.3ml / min / 1.73m2. The association between the ratio triglycerides / high density lipoprotein and chronic kidney disease was not statistically significant in the unadjusted model (RR = 2.3, 95% CI: 0.5-9.4) nor in the adjusted by confounders (RR = 1.1, 95% CI: 0.2-5.6). Conclusion: It was not possible to determine the explored association, probably because it does not exist in the studied population or because a higher sample size is required, due to the low number of events.

Genital disc growth in Drosophila.

Prior to completion, apoptosis causes the secretion of different signals, including proliferative signals. Signaling associated with death was discovered in Drosophila and mostly characterized by the induction of experimental death. Thus, less is known about physiological death. Here, we analyzed physiological death in the genital disc, a structure with bilateral symmetry, in different growth scenarios. To this end, we prevented or promoted death in regions or in genetic mosaics. We observed that physiological death in the genital disc was associated with proliferative signals and that both processes were JNK-dependent. The proliferative signals promoted growth in the genitalia primordia but not in the analia. Due to the proliferative signaling, the prevention of death that produced undead cells provoked asymmetric growth, high variability in proliferation, and size reduction. Death can occur in the absence of JNK but without signaling. JNK is fundamental for growth and death associated with signaling.

Exposure to Mercury in Workers and the Population Surrounding Gold Mining Areas in the Mojana Region, Colombia.

In Colombia, the inhabitants of the Mojana region have historically been subjected to high levels of environmental and occupational exposure to mercury; however, there are few robust data on the magnitude of this exposure and associated factors. This study aimed to describe the levels of mercury in the workers and inhabitants in this region, and to identify the main sociodemographic and occupational factors that are associated with this exposure. A cross-sectional study was conducted, in which mercury levels were determined in biological samples (blood, urine, hair) from 1119 people in the Mojana region. A questionnaire was also administered, which was adapted from the Global Mercury Assessment. Linear regression models were adjusted for the natural logarithm of mercury levels in blood, urine, and hair, using the factors that were explored as independent variables. The study reports high mercury levels in 35.0% of blood samples (95% CI 31.9⁻38.1%), 28.8% (95% CI 24.9⁻32.8%) of urine samples, and 56.3% (95% CI 53.1⁻59.5%) of hair samples. The reported source of water for consumption was associated with high levels of mercury (p-value < 0.05). We provide evidence of high levels of mercury exposure for the population in the Mojana region.

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU.

There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 µmol/L (group A), between 240 and 360 µmol/L (group B) or over 360 µmol/L (group C) during their first year of life. METHODS: 70 patients diagnosed with PKU through neonatal screening with Phe > 900 µmol/L, were divided into 3 groups: A, B and C, according to mean Phe concentrations and standard deviation (SD). Metabolic control during childhood, psychomotor development and IQ were compared. RESULTS: In group A, Phe was maintained within the recommended range until 6 years of age, in Group B, until 3 years of age, and in group C, Phe was always over the recommended range. No significant differences were found between the three groups in mental development index (MDI) and motor development index (PDI) scores at 12, 24, and 30 months of age, but group C had the lowest scores on MDI at all age periods. At preschool and school age, IQ was higher in group A compared to group C. CONCLUSION: Results show that mean blood Phe concentrations between 120 and 240 µmol/L during first year of life have a positive impact in metabolic control and cognitive functioning during childhood.

Septotomía endoscópica del divertículo de Zenker / Endoscopy septotomy in zenker diverticulum

Introducción: La Diverticulotomía o Septotomía endoscópica en el divertículo de Zenker, es una alternativa a otros abordajes terapéuticos. El presente estudio muestra nuestra experiencia de esta técnica endoscópica. Pacientes y Métodos: Análisis retrospectivo, entre el 2009 y 2017 en pacientes con divertículo de Zenker. La septotomía se realizó utilizando videoendoscopio flexible, esfinterótomo aguja, electrobisturi para DSE tipo Hibridknife, mediante una técnica ya estandarizada. Resultados: Se trataron 25 pacientes con edad promedio de 71 años (rango etario de 45 a 84 años). En una paciente su mejoría fue muy poca, por lo que se sometió a intervención quirúrgica, donde tampoco hubo resultados consistentes. Veintiún pacientes mostraron un alivio completo de la disfagia. Tres pacientes que tuvieron recurrencia sintomática fueron tratados con el mismo método endoscópico entre 2 y 4 sesiones evolucionando de forma satisfactoria. Conclusiones: La septotomía endoscópica del divertículo de Zenker es un método eficaz y seguro, por lo tanto representa una alternativa real a la cirugía.

Introduction: Diverticulotomy or Endoscopic septotomy in Zenker's diverticulum is an alternative to others therapeutics approaches. The present study shows our experience of this endoscopic technique. Patients and methods: Retrospective analysis between 2009 and 2017 in patients with Zenker's diverticulum. The procedure was performed using a flexible video endoscope and a needle knife, Erbe hybrid knife probe, using an already standardized technique. Results: Twenty-five patients with an average age of 71 years (age range 45-84 years) were treated. In one patient his improvement was very little, therefore surgical procedure was performed, nevertheless this procedure had not consistent results. Twenty-one patients showed complete relief of dysphagia. Three patients who had symptomatically relapsed were retreated with the same endoscopic method between 2 and 4 sessions with good results. Conclusions: Zenker's endoscopic septotomy of the diverticulum is an effective and safe method; thereby it represents a real alternative to surgical treatment.

Angiolipofibroma de ciego: A propósito de un caso / Angiolipofibroma of cecum: case report

Paciente femenino de 61 años de edad con enfermedad actual de 22 días de evolución caracterizado por evacuaciones liquidas en 05 oportunidades/día sin moco ni sangre. Dolor Abdominal tipo cólico de aparición insidiosa, de leve intensidad, en flanco y fosa iliaca derecha, sin acalmias, ni horario, no irradiado, sin concomitantes, motivo por el cual acude a consulta de gastroenterología. Antecedentes Personales: Niega de Importancia. Antecedentes Familiares: Padre fallecido a los 65 años de edad IAM, Madre viva 60 años HTA. Hábitos Psicobiológicos: Niega de importancia Exploración Funcional: No contributarios. Al Examen Físico: Talla: 1.60 mts FC: 72 Lpm Peso: 55 kg IMC: 21.5 kg/m2 FR: 16 rpm TABI: 120/66mmhg (acostada). Colonoscopia 16/05/16: Lipoma Para-apendicular Vs Apéndice Evertida. RME 21/07/16 con similar impresión diagnóstica macroscópica. Reporte Histopatológico: Angiofibrolipoma de Ciego. Un tipo infrecuente pólipo colorrectal, se forman pólipos subepiteliales hamartomatosas mesenquimales por más de un tipo de tejido mesenquimatoso. Presentamos los hallazgos patológicos de una presentación inusual de una proliferación polipoide en ciego con tejido vascular, adiposo maduro, fibroso y tejido conectivo. En la literatura solo hay 3 reportes previos en colon y recto.

The “Gastric Bypass” is one of the most performed bariatric Female patient 61 years old with 22 days of current diseases, characterized by liquid evacuations in 05 opportunities / day without mucus and blood. Cramping abdominal pain type of insidious onset, mild, skinny in flank y right iliac fossa, without acalmias, non-irradiated, without concomitant, that’s the reason because she consult to our center. Personal Background: Importance diseases deny. Family history: Father died at 65 years old of heart attack, Mother live 60 years old with arterial hypertension. Psychobiological habits: non important. Functional Exploration important symptoms Denies. Physical Exams: Size: 1.60 mts heart frequency: 72 x min Weight: 55 kg BMI: 21.5 kg / m2 breathing frequency: 16 x min Blood pressure 120 / 66mmhg (lying). Colonoscopy 5/16/16: Lipoma next to appendix Vs Appendix everted. 21/07/16 RME similarly macroscopic diagnostic impression. Histopathological report: Angiofibrolipoma of Cecum. A rare type colorectal polyps, polyps subepithelial mesenchymal Hamartomatous are formed by more than one mesenchymal tissue type. We present the pathological findings of an unusual presentation of a polypoid vascular proliferation in Cecum, with fat mature, fibrous tissue and connective tissue. In the literature there are only 3 previous reports in colon and rectum.