Indicators of Cobalamin Status During Pregnancy, Pregnancy Outcome and Long-Term Effects on Offspring Health.

BACKGROUND: Little attention has been given to prenatal cobalamin insufficiency in settings where dietary cobalamin intake is presumed adequate, such as populations with habitual intake of foods from animal sources. RESULTS: However, low cobalamin status in women of fertile age has been reported in Europe, United States, and Canada. In India, where cobalamin deficiency is highly prevalent, it has been associated with an increased risk of miscarriage, intrauterine growth retardation, as well as insulin resistance and lower neurodevelopment scores in the offspring. Low cobalamin status in pregnancy has been associated with similar outcomes as those reported in the Indian studies although the evidence is scant and conflicting. CONCLUSIONS: Consideration should be given to maternal cobalamin status in the context of prevention of adverse pregnancy outcomes as well as cobalamin insufficiency both in the mother and the offspring during lactation. Further attention is now justified with the increasing tendency toward plant-based diets. Reference intervals for cobalamin status during each trimester of pregnancy are needed and further investigation of the long-term conse-quences of low cobalamin status during pregnancy for health and development in the offspring is warranted.

Plain language titleInadequate cobalamin status during critical periods of growth and development can have negative consequences on maternal and childhood health.

Effect of Time-Varying Exposure to School-Based Health Promotion on Adiposity in Childhood.

BACKGROUND: The results of most school-based health promotion initiatives are inconclusive. OBJECTIVES: This trial assessed the effect of time-varying exposures to a multicomponent school-based health promotion intervention (SI! Program) on adiposity markers. METHODS: A total of 48 schools in Madrid (Spain) were cluster randomized to receive the SI! Program through elementary education grades 1 to 6 (E1-6, 12 schools, 459 children), 1 to 3 (E1-3, 12 schools, 513 children), or 4 to 6 (E4-6, 12 schools, 419 children) or to receive the standard curriculum (control, 12 schools, 379 children). The primary endpoint was the between-group difference at 3- and 6-year follow-up in the change from baseline in adiposity markers and the overall knowledge-attitudes-habits (KAH) score. RESULTS: At 3-year follow-up, children who had the intervention showed significantly lower increases than the control group in z-scores for body mass index (BMI), waist-to-height ratio (WHtR), and waist circumference (WC) (zBMI: -0.09; 95% CI: -0.16 to -0.03; P = 0.003; zWC and zWHtR: -0.19; 95% CI: -0.28 to -0.10; P < 0.001). At 6-year follow-up, the beneficial trend in zWC and zWHtR was maintained in the E1-6 and E1-3 groups: difference zWC control vs E1-6 (-0.19; 95% CI: -0.36 to -0.03; P = 0.020), control vs E1-3 (-0.22; 95% CI: -0.38 to -0.06; P = 0.009); difference zWHtR control vs E1-6 (-0.24; 95% CI: -0.41 to -0.06; P = 0.009), and control vs E1-3 (-0.29; 95% CI: -0.47 to -0.11; P = 0.001). No significant between-group differences were found in the change of overall KAH score. CONCLUSIONS: Early elementary school interventions may be more effective than later interventions on abdominal adiposity. Further research should assess the sustainability effects of school-based health promotion programs.

Can Microfluidics Improve Sperm Quality? A Prospective Functional Study.

The same sperm selection techniques in assisted reproduction clinics have remained largely unchanged despite their weaknesses. Recently, microfluidic devices have emerged as a novel methodology that facilitates the sperm selection process with promising results. A prospective case-control study was conducted in two phases: 100 samples were used to compare the microfluidic device with Density Gradient, and another 100 samples were used to compare the device with the Swim-up. In the initial phase, a significant enhancement in progressive motility, total progressive motile sperm count, vitality, morphology, and sperm DNA fragmentation were obtained for the microfluidic group compared to Density Gradient. Nevertheless, no statistically significant differences were observed in sperm concentration and chromatin structure stability. In the subsequent phase, the microfluidic group exhibited significant increases in sperm concentration, total progressive motile sperm count, and vitality compared to Swim-up. However, non-significant differences were seen for progressive motility, morphology, DNA structure stability, and DNA fragmentation. Similar trends were observed when results were stratified into quartiles. In conclusion, in a comparison of microfluidics with standard techniques, an improvement in sperm quality parameters was observed for the microfluidic group. However, this improvement was not significant for all parameters.

Pervasive gene flow despite strong and varied reproductive barriers in swordtails.

One of the mechanisms that can lead to the formation of new species occurs through the evolution of reproductive barriers. However, recent research has demonstrated that hybridization has been pervasive across the tree of life even in the presence of strong barriers. Swordtail fishes (genus Xiphophorus) are an emerging model system for studying the interface between these barriers and hybridization. We document overlapping mechanisms that act as barriers between closely related species, X. birchmanni and X. cortezi, by combining genomic sequencing from natural hybrid populations, artificial crosses, behavioral assays, sperm performance, and developmental studies. We show that strong assortative mating plays a key role in maintaining subpopulations with distinct ancestry in natural hybrid populations. Lab experiments demonstrate that artificial F1 crosses experience dysfunction: crosses with X. birchmanni females were largely inviable and crosses with X. cortezi females had a heavily skewed sex ratio. Using F2 hybrids we identify several genomic regions that strongly impact hybrid viability. Strikingly, two of these regions underlie genetic incompatibilities in hybrids between X. birchmanni and its sister species X. malinche. Our results demonstrate that ancient hybridization has played a role in the origin of this shared genetic incompatibility. Moreover, ancestry mismatch at these incompatible regions has remarkably similar consequences for phenotypes and hybrid survival in X. cortezi × X. birchmanni hybrids as in X. malinche × X. birchmanni hybrids. Our findings identify varied reproductive barriers that shape genetic exchange between naturally hybridizing species and highlight the complex evolutionary outcomes of hybridization.

High-Risk Congenital Heart Disease in Pregnancy.

High-risk congenital heart disease (CHD) in pregnancy presents a complex clinical challenge. With improved medical care and increased survival rates, a growing population of adults with complex CHD are surviving to adulthood, including women of reproductive age. This chapter focuses on risk stratification and management of pregnant women with high-risk CHD, emphasizing the importance of considering both anatomical and physiological complexity. Maternal physiological changes, such as blood volume increase, cardiac output changes, and alterations in vascular resistance, can significantly impact high-risk CHD patients. Management of high-risk CHD in pregnancy necessitates a multidisciplinary approach and individualized care.

2-iodohexadecanal induces autophagy during goiter involution.

BACKGROUND: Iodine plays an important role in thyroid physiology and biochemistry. The thyroid is capable of producing different iodolipids such as 2-iodohexadecanal (2-IHDA). Data from different laboratories have shown that 2-IHDA inhibits several thyroid parameters and it has been postulated as intermediary on the action of iodide function. OBJECTIVE: To explore different mechanisms involved during the involution of the hyperplastic thyroid gland of Wistar rats towards normality induced by 2-IHDA. METHODS: Goiter was induced by the administration of MMI for 10 days, then the treatment was discontinued and Wistar rats were injected with 2-IHDA or KI. RESULTS: During involution, 2-IHDA treatment reduced PCNA expression compared to spontaneous involution. KI treatment caused an increase of Caspase-3 activity and TUNEL-positive cells. In contrast, 2-IHDA failed to alter this value but induced an increase of LC3B expression. KI but not 2-IHDA led to an increase in peroxides levels, catalase and glutathione peroxidase activity. CONCLUSIONS: We demonstrated that 2-IHDA, in contrast to iodide, did not lead to an increase in oxidative stress or apoptosis induction, indicating that the involution triggered by 2-IHDA in Wistar rats, is primarily due to the inhibition of cell proliferation and the induction of autophagy.

Mobile Cardiac Telemetry Use to Predict Adverse Pregnancy Outcomes in Patients With Congenital Heart Disease.

Background: Patients with congenital heart disease (CHD) have a higher incidence of arrhythmias during pregnancy, yet the utility of mobile cardiac telemetry (MCT) to predict adverse outcomes is unknown. Objectives: The purpose of this study is to determine whether arrhythmias on screening MCT correlate with adverse pregnancy outcomes. Methods: Patients with CHD prospectively enrolled in the Standardized Outcomes in Reproductive Cardiovascular Care initiative underwent 24-hour MCT (within 18 months prior to pregnancy). Positive findings on MCT were defined as episodes of bradyarrhythmia, symptomatic atrioventricular block, ectopic atrial or ventricular activity, and supraventricular or ventricular tachycardia. Clinically significant arrhythmia events (CSAEs) were those requiring medical or device intervention or an emergency room visit. Clinical events during the antepartum, intrapartum, and postpartum periods were compared using Fisher's exact test. Analyses were performed using Stata version 16. Results: In 141 pregnancies in 118 patients with CHD, MCT detected positive findings in 17%. Adverse cardiac outcomes occurred in 11% of pregnancies, of which CSAE occurred in 3.5%. Positive MCT was significantly associated with subsequent CSAE (21% vs 0%, P < 0.001) and cumulative adverse maternal cardiac outcomes (33% vs 7%, P = 0.001) but did not correlate with obstetric (46% vs 41%, P = 0.660) or neonatal outcomes (33% vs 31%, P = 0.810). Of the patients with CSAE, 75% had ≥moderate CHD complexity. Conclusions: Patients with CHD had a high rate of positive MCT findings. This was associated with CSAE and adverse maternal cardiac outcomes. Patients with ≥moderate CHD complexity may benefit from screening MCT to improve preconceptual counseling and planning.

Genome evolution is surprisingly predictable after initial hybridization.

Over the past two decades, evolutionary biologists have come to appreciate that hybridization, or genetic exchange between distinct lineages, is remarkably common - not just in particular lineages but in taxonomic groups across the tree of life. As a result, the genomes of many modern species harbor regions inherited from related species. This observation has raised fundamental questions about the degree to which the genomic outcomes of hybridization are repeatable and the degree to which natural selection drives such repeatability. However, a lack of appropriate systems to answer these questions has limited empirical progress in this area. Here, we leverage independently formed hybrid populations between the swordtail fish Xiphophorus birchmanni and X. cortezi to address this fundamental question. We find that local ancestry in one hybrid population is remarkably predictive of local ancestry in another, demographically independent hybrid population. Applying newly developed methods, we can attribute much of this repeatability to strong selection in the earliest generations after initial hybridization. We complement these analyses with time-series data that demonstrates that ancestry at regions under selection has remained stable over the past ~40 generations of evolution. Finally, we compare our results to the well-studied X. birchmanni×X. malinche hybrid populations and conclude that deeper evolutionary divergence has resulted in stronger selection and higher repeatability in patterns of local ancestry in hybrids between X. birchmanni and X. cortezi.

Priorities and Understanding of Pregnancy Among Women With Congenital Heart Disease: A Mixed-Methods Study.

Background: Many women with congenital heart disease (CHD) desire safe and successful pregnancies, but a significant proportion does not seek prepregnancy counseling. Objectives: This study aims to distinguish the personal priorities and perceptions about pregnancy in this growing population. Methods: Women aged 18 to 50 years with CHD were enrolled from 2 sites. Using a mixed-methods approach (Q-methodology), 179 participants sorted 23 statements representing a collection of views on pregnancy using priority forced ranking along a scale from "strongly agree" to "strongly disagree." Results: Majority of women were between 25 and 29 years of age, had moderate or severely complex CHD, and were married. Five unique group identities were elucidated from patient responses. Group 1 was centered around a strong desire to start a family. Women in group 2 had significant anxiety, and their psychological wellbeing interfered with their decision to start a family. Women in group 3 were concerned about premature death; if they do have kids, they want to be alive to see them grow old. Women in group 4 had strong objections to termination. Group 5 valued health care engagement. Group identities were unrelated to CHD complexity and demographic factors such as age and marital status. Six differentiating statements were identified that help distinguish which group a woman aligns with. Conclusions: Women with CHD have diverse priorities and values relating to pregnancy and heart disease. This study used a mixed-methods approach to provide a framework identifying several domains for targeted prepregnancy counseling in women with CHD.

Desenvolvimento e Avaliação da Usabilidade e Acessibilidade de um Protótipo de Jogo Educacional Digital para Pessoas com Deficiência Visual / Development and Evaluation of Usability and Accessibility of an Educational Digital Game Prototype Aimed for People with Visual Impairment

RESUMO: Um jogo educacional digital deve ser projetado para que qualquer pessoa possa usá-lo como objeto educacional, sobretudo pessoas com deficiência visual. Entretanto, muitas vezes, não são incluídos e avaliados aspectos de acessibilidade. Objetiva-se, com este artigo, relatar o planejamento e o desenvolvimento de um protótipo de jogo educacional digital para o ensino interdisciplinar de Ciências, Matemática e Educação Científica, bem como a execução da avaliação da acessibilidade com três pessoas com deficiência visual, para garantir um design colaborativo desde os passos iniciais de elaboração do jogo. O protótipo foi desenvolvido de acordo com as etapas de um método de produção de jogos; a execução da avaliação da acessibilidade e da usabilidade foi conduzida por meio de um protocolo adaptado, baseado no Think-Aloud Protocol, com três jogadores com deficiência visual. Os resultados identificaram desafios com os recursos de áudios e as propostas de soluções e, também, com a importância de padronizar as descrições das telas, a proposição de botões para garantir a jogabilidade, e a necessidade de fornecimento de feedback dado pelo jogo após o cumprimento da tarefa. Conclui-se que o design deve ser proposto em parceria colaborativa com diferentes públicos para garantir o desenho universal no desenvolvimento de jogos educacionais inclusivos.

ABSTRACT: A digital educational game must be designed so that anyone can use it as an educational object, especially people with visual impairments. However, accessibility aspects are often not included and evaluated. The objective of this paper is to report the planning and development of a prototype of a digital educational game for the interdisciplinary teaching of Sciences, Mathematics and Science Education, as well as the execution of the accessibility evaluation with three visually impaired people, to ensure a collaborative design from the initial steps of elaborating the game. The prototype was developed according to the steps of a game production method; the execution of the accessibility and usability evaluation was conducted through an adapted protocol, based on the Think-Aloud Protocol, with three visually impaired players. The results identified challenges with the audio resources and the proposed solutions, and also with the importance of standardizing the descriptions of the screens, the proposition of buttons to guarantee the gameplay, and the need to provide feedback given by the game after the fulfillment of the task. It is concluded that the design must be proposed in a collaborative partnership with different audiences to guarantee universal design in the development of inclusive educational games.

Angustias arcaicas y fantasmas de acción en la expresividad psicomotriz en dos niños de familias monoparentales / Archaic anguish and action phantoms in psychomotor expressiveness in two children from single-parent families

La finalidad de este estudio de tipo fenomenologico es describir las produccioes fantasmáticas y las angustias arcaicas en la expresividad psicomotriz en niños de 7 a 8 años de familias monoparentales que asisten a la Fundación Arco Iris en el área de apoyo educativo integral. Como instrumento de recolección de datos se utilizo la entrevista semiestructurada con la madre y la observación en sala bajo la guia de observación en sala bajo la guia de observación de parámetros psicomotroes de Pilar Amaiz.

Influencia de la sobrecarga de calcio sobre el metabolismo óseo y mineral en 55 centros de hemodiálisis de Lima / Impact of calcium overload on bone and mineral metabolism at 55 hemodialysis centers in Lima

ANTECEDENTES: Las alteraciones del metabolismo óseo y mineral son complicaciones frecuentes de los pacientes de hemodiálisis que presentan una gran variabilidad geográfica. OBJETIVOS: El objetivo del presente estudio fue evaluar por primera vez dichas alteraciones en pacientes de hemodiálisis de Perú. MÉTODOS: El estudio incluyó 1.551 pacientes de hemodiálisis de 55 centros concertados con el seguro social de salud de Perú, pertenecientes a la ciudad de Lima. De cada paciente se recogieron datos demográficos, comorbilidades, tratamientos y parámetros bioquímicos. Los valores de calcio, fósforo y PTH fueron categorizados según los rangos recomendados en las guías KDOQI y KDIGO. RESULTADOS: La edad media de los pacientes fue de 59,5 ± 15,6, con tiempo medio en hemodiálisis de 58,0 ± 54,2 meses. Todos los pacientes se dializaban con una concentración de calcio en el líquido de diálisis de 3,5 mEq/l y el 68,9% recibían captores de fósforo (98,4% carbonato de calcio). Se observó un alto porcentaje de pacientes con calcio sérico por encima y fósforo sérico por debajo de los rangos recomendados en las guías KDOQI (32,8% y 37,3% respectivamente). Más de la mitad de los pacientes tenían valores de PTH por debajo de los rangos recomendados, tanto en KDOQI como en KDIGO (56,4% y 51,6% respectivamente). CONCLUSIONES: Los pacientes incluidos en el presente estudio se caracterizaron por ser más jóvenes que los de otros estudios y por tener hipofosforemia y PTH suprimida, probablemente debido a una excesiva sobrecarga de calcio a través del líquido de diálisis y el empleo de captores de fósforo con calcio

BACKGROUND: Mineral and bone metabolism disorders are common complications in haemodialysis patients that present significant geographical variability. OBJECTIVES: The objective of this study was to assess these disorders for the first time in haemodialysis patients from Peru. METHODS: The study included 1551 haemodialysis patients from 55 centres affiliated with the Social Health System of Peru in the city of Lima. Demographic data, comorbidities, treatments and biochemical parameters were collected from each patient. Serum calcium, phosphorus and PTH levels were categorised according to the recommended ranges in the KDOQI and KDIGO guidelines. RESULTS: The mean age of the patients was 59.5 ± 15.6 years, with a mean time on haemodialysis of 58.0 ± 54.2 months. All patients were dialysed with a calcium concentration in the dialysis fluid of 3.5 mEq/l and 68.9% of patients were prescribed phosphate-binding agents (98.4% of them calcium carbonate). A high percentage of patients showed serum calcium above, and serum phosphorus below, the recommended ranges in the KDOQI guidelines (32.8% and 37.3%, respectively). More than half of the patients had serum PTH values below the recommended ranges of both the KDOQI and KDIGO guidelines (56.4% and 51.6%, respectively). CONCLUSIONS: Patients included in this study were younger than those from other studies and showed both hypophosphataemia and suppressed PTH, probably due to an excessive calcium overload through dialysis fluid and the use of calcium-containing phosphate binding agents

Infección del tracto urinario en receptores de trasplante renal / Urinary tract infection in renal transplant recipients

Introducción. La infección del tracto urinario (ITU) es común en receptores de trasplante renal (TR). La frecuencia de ITU depende de factores previos y posteriores al trasplante. Objetivos. Determinar la cronología de aparición de ITU sintomática, los microorganismos causantes y la incidencia de ITU resistente a antibióticos en receptores de TR. Diseño. Estudio retrospectivo. Lugar. Unidad de Trasplante Renal, Hospital Edgardo Rebagliati Martins, EsSalud, Lima, Perú. Participantes. Pacientes sometidos a TR. Intervenciones. Se revisó la historia clínica de 304 pacientes sometidos a TR en el período 2002-2011, con seguimiento de hasta cuatro años por paciente. Se constató 215 episodios de ITU sintomática confirmada mediante urocultivo en 84 receptores. Principales medidas de resultados. Incidencia, cronología, determinación microbiológica/susceptibilidad, resistencia bacteriana, factores de riesgo, estrategias diagnósticas, presencia o no de bacteriemia y manejo terapéutico. Resultados. En 50% de los 84 receptores el episodio inicial ocurrió durante los primeros tres meses, y en 39% se constató más de un episodio de ITU. Las bacterias representaron la etiología más frecuente (94%), siendo la Escherichia coli (77%) el uropatógeno prevalente, con tasa productora betalactamasa espectro extendido (BLEE) en 38%, seguida de Klebsiella pneumonie (11%) con BLEE 65%. En 12% de los 215 episodios de ITU el hemocultivo fue positivo. Entre los factores de riesgo se detectó luego del trasplante 19% receptores con anormalidades anatómicas del tracto urinario. Conclusiones. La ITU ocurrió tempranamente luego del trasplante y la Escherichia coli fue el microorganismo etiológico más frecuente. La resistencia antibiótica estuvo presente en 37% de los 215 episodios de ITU, representando un desafío contínuo a resolver en la práctica clínica.

Introduction. Urinary tract infections (UTI) are common among renal transplant recipients (RTR) and their frequency depends on pre- and post-transplant factors. Objectives. To determine the time of appearance of symptomatic UTI among renal transplant recipients, microorganisms causing the infection, and incidence of UTI resistant to antibiotics. Design. Retrospective study. Setting. Renal Transplant Unit, Hospital Edgardo Rebagliati Martins, EsSalud, Lima, Peru. Participants. Patients who have undergone renal transplantation. Interventions. The clinical records of 304 patients subject to kidney transplantation performed between 2002 and 2011 and followed for up to four years were reviewed. There were 215 urine culture-confirmed UTI episodes in 84 transplant recipients. Main outcome measures. Incidence, chronology, microbiological determination/ susceptibility, bacterial resistance, risk factors, diagnostic strategies, presence or absence of bacteremia, and therapeutic management. Results. In 42 of the 84 recipients, the initial episode occurred during the first three months, and 33 (39%) had more than one UTI episode. Bacteria represented the most common etiology (94%), and Escherichia coli was the most prevalent uropathogen, with an extended-spectrum beta-lactamase (ESBL) production rate of 38%, followed by Klebsiella pneumoniae (11%) with an ESBL of 65%. Blood culture was positive in 25 (12%) of the 215 UTI episodes. In 17 recipients (19%), anatomic anomalies of the urinary tract were detected following the transplant. Conclusions. UTI occurred early following kidney transplantation, and Escherichia coli was the most common microorganism found. Antibiotic resistance was present in 79 (37%) of the 215 UTI episodes, representing a continuous challenge in clinical practice.

Circunferencia hipertrigliceridémica y perfil de riesgo cardiometabólico en adolescentes normopeso y con exceso de peso / Hypertriglyceridemic waist and cardiometabolic risk profile among normal weight and overweight adolescents

Antecedentes. La cintura hipertrigliceridémica (CHTG) se asocia con elevado riesgo cardiometabólico en adultos; sin embargo, se dispone de poca información sobre si la misma genera cambios metabólicos adversos en adolescentes con y sin exceso de peso. Objetivo. Evaluar el perfil del riesgo cardiometabólico asociado con la CHTG y su capacidad para predecir factores de este perfil en adolescentes, categorizados según el puntaje Z del índice de masa corporal. Materiales y métodos. Se evaluaron 96 adolescentes (12-17 años) divididos en dos grupos: normopeso y sobrepeso/obesidad. Se determinaron peso, talla, circunferencia de cintura, presión arterial, estadio de maduración sexual y marcadores bioquímicos del riesgo cardiometabólico. Se calculó un índice de riesgo cardiometabólico agrupado. Resultados. La frecuencia de la CHTG fue de 9.8%. El número de casos de esta fue mayor al avanzar la maduración sexual (p<0.001) y en el grupo con exceso de peso (p=0.043). En el grupo total, la CHTG fue capaz de predecir presión arterial elevada (p<0.002), colesterol no-HDL elevado (p<0.012) y riesgo cardiometabólico agrupado elevado (p<0.001). En tanto que en el grupo normopeso, elevó la relación TGL/HDLc (p=0.003) y el índice de riesgo cardiometabólico agrupado (p=0.001). Por último, en el grupo con sobrepeso/obesidad, esta elevó: presión sistólica (p=0.005) y diastólica (p=0.006), colesterol total (p=0.037) y no-HDL (p=0.029), relación colesterol total/HDLc (p=0.032), relación triglicéridos/HDLc (p<0.001) e índice de riesgo cardiometabólico agrupado (p<0.001), independientemente del sexo, edad y estadio de maduración sexual. Conclusiones. La CHTG fue prevalente y se asoció a un perfil metabólico adverso y riesgo cardiometabólico agrupado elevado en adolescentes con y sin exceso de peso, recomendándose su detección en atención primaria.

Background. Hypertriglyceridemic waist phenotype (HW) is associated with high cardiometabolic risk (CMR) in adults; however, there is little information on whether it causes adverse metabolic changes in adolescents with and without excess body weight or not. Objective. To evaluate the profile of CMR associated with HW and its ability to predict CMR factors in adolescents, categorized by body mass index Z-score. Materials and methods. 96 adolescents (aged 12-17) divided into two groups (normal weight and overweight/obesity) were evaluated. Weight, height, waist circumference, blood pressure and biochemical markers of CMR were measured; the stage of sexual maturation was established. Clustered CMR index was calculated. Results. The frequency of HW was 9.8%. The number of cases of HW was higher in the later stages of sexual maturation (p<0.001) and in the overweight/obesity group (p=0.043). In the total group, the HW was able to predict the presence of high blood pressure (p<0.002), high cholesterol non-HDL (p<0.012) and elevated clustered CMR (p<0.001). In the normal weight group, the presence of HW significantly raised the triglycerides/ HDL-cholesterol ratio (p=0.003) and clustered CMR index (p=0.001); in the overweight/obesity group, HW increased systolic (p=0.005) and diastolic (p=0.006) blood pressure, total (p=0.037) and non-HDL (p=0.029) cholesterol, total cholesterol/ HDL-cholesterol ratio (p=0.032), triglycerides/HDL-cholesterol ratio (p<0.001) and the clustered CMR index (p<0.001), regardless of gender, age and stage of sexual maturation. Conclusions. HW was prevalent and associated with an adverse metabolic profile and high clustered CMR in adolescents with and without excess body weight, so its detection is recommended in primary care.

Relación circunferencia de cintura/talla: Predictor de insulino-resistencia y riesgo cardiometabolico agrupado en adolescentes / Waist to height index: predictor of insulin resistance and clustered cardiometabolic risk in adolescents

Introducción: la literatura reciente muestra las ventajas del empleo de la relación circunferencia de cintura/talla (CC/T), pero existe poca información sobre la aplicación de este indicador en la detección de factores de riesgo cardiometabólico (RCM) en adolescentes venezolanos. Objetivo: asociar el aumento de CC/T a la presencia de insulino-resistencia (RI) y agrupamiento de factores de RCM y evaluar su capacidad para predecir éstos en adolescentes. Métodos: estudio transversal de 96 adolescentes (12-17 años) de la ciudad de Valencia, Venezuela, en los que se midió peso, talla, circunferencia de cintura (CC), presión arterial, estado de maduración sexual, glucosa, colesterol total (CT), triglicéridos (TGL), HDLc e insulina. Se calculó índice de masa corporal (IMC), CC/T, índice HOMAIR y puntaje de RCM agrupado; se estableció presencia de síndrome metabólico (SM). Resultados: Después de ajustar por edad, sexo y estado de maduración sexual, los adolescentes con CC/T ≥0,5 mostraron valores promedios de CT, TGL, relación CT/HDLc, insulinemia, índice HOMA-IR y puntaje de RCM agrupado significativamente más elevados respecto de los jóvenes con CC/T <0,5. La elevación del CC/T predijo significativamente la presencia de RI, SM y RCM agrupado elevado. La capacidad de CC/T para predecir SM y RCM agrupado elevado fue similar a la mostrada por el IMC, puntaje Z del IMC y CC. Conclusiones: la relación CC/T predijo la presencia de insulino-resistencia y agrupamiento de factores de RCM en adolescentes, independientemente de la edad, sexo y estado de maduración sexual, validando su empleo en atención primaria para la detección de adolescentes en alto riesgo.

Introduction: Recent literature shows the advantages of the employment of the waist to height ratio (WHTR), but there exists very little information about the application of this anthropometric indicator for the detection of cardiometabolic risk (CMR) factors in Venezuelan adolescents. Objective: to associate the increase of the WHTR with the presence of insulin resistance and clustering of CMR factors and to evaluate its ability to predict these alterations in adolescents. Methods: This was a cross-sectional design study. Weight, height, waist circumference (WC), blood pressure, state of sexual maturation, glucose, total cholesterol (TC), triglycerides (TGL), HDL cholesterol and insulin were assessed in 96 adolescents (aged 12-17 years) from Valencia, Venezuela. Body mass index (BMI), WHTR, HOMA-IR index and clustered CMR score were calculated; the presence of metabolic syndrome was established. Results: After adjust for age, sex and the state of sexual maturation, the adolescents with WHTR ≥0,5 had significantly higher TC, TGL, total-to-HDL cholesterol ratio, insulin, HOMA-IR index and clustered CMR score compared with WHTR < 0,5. The elevation of the WHTR predicted significantly insulin resistance, metabolic syndrome and high clustered CMR. The ability of WHTR to predict metabolic syndrome and high clustered CMR was similar to that shown by the BMI, BMI Z-score and WC. Conclusions: the WHTR predicted the presence of insulin resistance and clustering of CMR factors in adolescents, independently of the age, sex and the state of sexual maturation, validating its employment in primary health care for detection the adolescents in high risk.

Relación entre el déficit de sueño nocturno, el exceso de peso y las alteraciones metabólicas en adolescentes / Relationship among nocturnal sleep deficit, excess weight and metabolic alterations in adolescents

Introducción. El sueño modula la función neuroendócrina y el metabolismo, por lo que los cambios en su duración podrían favorecer el desarrollo de obesidad durante la adolescencia. Objetivo. Evaluar la posible asociación entre la duración del sueño nocturno y la presencia de exceso de peso y las alteraciones metabólicas en un grupo de adolescentes. Población y métodos. Estudio analítico transversal, realizado en una escuela de Valencia, Venezuela, durante el período escolar 20122013. Participaron adolescentes de12 a 17 años. Se realizó una encuesta sobre duración del sueño nocturno, se registraron peso, talla y circunferencia de cintura y se midió glucemia, perfil lipídico e insulinemia. Se calculó el índice de masa corporal y el modelo de evaluación homeostático de resistencia a la insulina (índice HOMA-IR). Resultados. Se incluyeron 90 adolescentes. En comparación con el grupo normopeso, los adolescentes con exceso de peso presentaron menor promedio de horas de sueño de domingo a jueves (p <0,05) y mayor frecuencia de déficit de sueño y deuda de sueño (p <0,05). La presencia de HDL colesterol bajo y de insulinorresistencia se asoció significativamente a deuda de sueño (p <0,05). En los adolescentes con deuda de sueño, el riesgo de presentar exceso de peso fue 2,70 veces mayor (IC 95%= 1,09-6,72; p= 0,032), independientemente de la edad, sexo, maduración sexual, déficit de sueño entre domingo y jueves y antecedentes familiares en primer grado de enfermedad cardiovascular y diabetes. Conclusiones. El déficit de sueño nocturno y la deuda de sueño se asociaron significativamente a exceso de peso y alteraciones metabólicas relacionadas con riesgo cardiometabólico elevado.

Introduction. Sleep modulates neuroendocrine function and metabolism; therefore, changes in sleep duration may lead to developing obesity during adolescence. Objective. To assess the possible association among nocturnal sleep duration, the presence of overweight and metabolic alterations in a group of adolescents. Population and Methods. Cross-sectional, analytical study conducted at a school in Valencia, Venezuela, during the 2012-2013 school year. Participants were 12 to 17 year-old adolescents. A survey on nocturnal sleep duration was administered; weight, height and waist circumference were recorded; and glycemia, lipid profile and insulinemia levels were measured. Body mass index and the homeostasis model assessment of insulin resistance (HOMA-IR) index were calculated. Results. Ninety adolescents were included. Compared to the group with normal weight, adolescents with excessive weight had, in average, fewer sleep hours Sundays through Thursdays (p < 0.05) and a higher rate of sleep deficit and sleep debt (p < 0.05). Low HDL cholesterol and insulin resistance was significantly associated with sleep debt (p < 0.05). Among adolescents with sleep debt, the risk of having excess weight was 2.70 times higher (95% CI= 1.09-6.72; p= 0.032) regardless of age, gender, sexual maturity, sleep deficit Sundays through Thursdays, and history of cardiovascular disease and diabetes in first-degree relatives. Conclusions. Nocturnal sleep deficit and sleep debt were significantly associated with excess weight and metabolic alterations related to a high cardiometabolic risk.

Relación entre el déficit de sueño nocturno, el exceso de peso y las alteraciones metabólicas en adolescentes / Relationship among nocturnal sleep deficit, excess weight and metabolic alterations in adolescents

Introducción. El sueño modula la función neuroendócrina y el metabolismo, por lo que los cambios en su duración podrían favorecer el desarrollo de obesidad durante la adolescencia. Objetivo. Evaluar la posible asociación entre la duración del sueño nocturno y la presencia de exceso de peso y las alteraciones metabólicas en un grupo de adolescentes. Población y métodos. Estudio analítico transversal, realizado en una escuela de Valencia, Venezuela, durante el período escolar 20122013. Participaron adolescentes de12 a 17 años. Se realizó una encuesta sobre duración del sueño nocturno, se registraron peso, talla y circunferencia de cintura y se midió glucemia, perfil lipídico e insulinemia. Se calculó el índice de masa corporal y el modelo de evaluación homeostático de resistencia a la insulina (índice HOMA-IR). Resultados. Se incluyeron 90 adolescentes. En comparación con el grupo normopeso, los adolescentes con exceso de peso presentaron menor promedio de horas de sueño de domingo a jueves (p <0,05) y mayor frecuencia de déficit de sueño y deuda de sueño (p <0,05). La presencia de HDL colesterol bajo y de insulinorresistencia se asoció significativamente a deuda de sueño (p <0,05). En los adolescentes con deuda de sueño, el riesgo de presentar exceso de peso fue 2,70 veces mayor (IC 95%= 1,09-6,72; p= 0,032), independientemente de la edad, sexo, maduración sexual, déficit de sueño entre domingo y jueves y antecedentes familiares en primer grado de enfermedad cardiovascular y diabetes. Conclusiones. El déficit de sueño nocturno y la deuda de sueño se asociaron significativamente a exceso de peso y alteraciones metabólicas relacionadas con riesgo cardiometabólico elevado.(AU)

Introduction. Sleep modulates neuroendocrine function and metabolism; therefore, changes in sleep duration may lead to developing obesity during adolescence. Objective. To assess the possible association among nocturnal sleep duration, the presence of overweight and metabolic alterations in a group of adolescents. Population and Methods. Cross-sectional, analytical study conducted at a school in Valencia, Venezuela, during the 2012-2013 school year. Participants were 12 to 17 year-old adolescents. A survey on nocturnal sleep duration was administered; weight, height and waist circumference were recorded; and glycemia, lipid profile and insulinemia levels were measured. Body mass index and the homeostasis model assessment of insulin resistance (HOMA-IR) index were calculated. Results. Ninety adolescents were included. Compared to the group with normal weight, adolescents with excessive weight had, in average, fewer sleep hours Sundays through Thursdays (p < 0.05) and a higher rate of sleep deficit and sleep debt (p < 0.05). Low HDL cholesterol and insulin resistance was significantly associated with sleep debt (p < 0.05). Among adolescents with sleep debt, the risk of having excess weight was 2.70 times higher (95% CI= 1.09-6.72; p= 0.032) regardless of age, gender, sexual maturity, sleep deficit Sundays through Thursdays, and history of cardiovascular disease and diabetes in first-degree relatives. Conclusions. Nocturnal sleep deficit and sleep debt were significantly associated with excess weight and metabolic alterations related to a high cardiometabolic risk.(AU)

Relationship among nocturnal sleep deficit, excess weight and metabolic alterations in adolescents. / Relationship among nocturnal sleep deficit, excess weight and metabolic alterations in adolescents.

INTRODUCTION: Sleep modulates neuroendocrine function and metabolism; therefore, changes in sleep duration may lead to developing obesity during adolescence. OBJECTIVE: To assess the possible association among nocturnal sleep duration, the presence of overweight and metabolic alterations in a group of adolescents. POPULATION AND METHODS: Cross-sectional, analytical study conducted at a school in Valencia, Venezuela, during the 2012-2013 school year. Participants were 12 to 17 year-old adolescents. A survey on nocturnal sleep duration was administered; weight, height and waist circumference were recorded; and glycemia, lipid profile and insulinemia levels were measured. Body mass index and the homeostasis model assessment of insulin resistance (HOMA-IR) index were calculated. RESULTS: Ninety adolescents were included. Compared to the group with normal weight, adolescents with excessive weight had, in average, fewer sleep hours Sundays through Thursdays (p < 0.05) and a higher rate of sleep deficit and sleep debt (p < 0.05). Low HDL cholesterol and insulin resistance was significantly associated with sleep debt (p < 0.05). Among adolescents with sleep debt, the risk of having excess weight was 2.70 times higher (95

CI= 1.09-6.72; p= 0.032) regardless of age, gender, sexual maturity, sleep deficit Sundays through Thursdays, and history of cardiovascular disease and diabetes in first-degree relatives. CONCLUSIONS: Nocturnal sleep deficit and sleep debt were significantly associated with excess weight and metabolic alterations related to a high cardiometabolic risk.

Is perception of the mainstream legal system homogeneous across ethnic groups? / ¿Es la percepción del sistema legal homogénea entre distintos grupos étnicos?

There is a great social debate regarding possible legal privileges favouring some ethnic groups over others in a particular society. This fact may negatively influence citizens’ perceptions about fairness and legitimacy of the mainstream legal system and, thus, compliance with established social norms. The main purpose of the present study was to analyse the perception of the mainstream legal system in citizens belonging to different ethnic groups. In particular, this work had two objectives. First, the purpose was to explore interethnic perceptions of legal authorities and the justice system by examining the following variables: procedural justice, distributive justice, legitimacy of the legal system, contact with police, and reasons for obeying the law. A second objective was to test the predictive power of perceived procedural justice, distributive justice, and contact with police in the subsequent perception of legitimacy across the different ethnic groups. The sample was composed of 351 participants, who were split into two groups: White- Europeans (76.4%) and ethnic minorities (23.6%). Results revealed ethnic group differences in all study variables, showing ethnic minorities a more general negative attitude towards the legal system in terms of procedural justice, distributive justice and legitimacy conceded to the legal system, in comparison with the majority group. Moreover, legitimacy conceded to legal authorities was predicted by procedural justice, but not by distributive justice neither contact with police, in both groups. Practical and policy implications are discussed based on the importance of citizens’ perceptions about the legal authorities in order to legitimate the mainstream legal system (AU)

Existe actualmente un gran debate social acerca de los posibles privilegios legales que pueden favorecer a ciertos grupos étnicos frente a otros. Este hecho puede influir negativamente en la percepción de la justicia y legitimidad del sistema legal dominante por parte de los ciudadanos y, por tanto, en la conformidad con las normas sociales establecidas. El principal objetivo de este estudio ha sido analizar la percepción del sistema legal por parte de ciudadanos pertenecientes a diferentes grupos étnicos. En particular, este trabajo tuvo dos objetivos. El primero fue explorar la percepción inter-étnica de las autoridades legales y del sistema de justicia mediante el análisis de las siguientes variables: justicia procedimental, justicia distributiva, legitimidad del sistema legal, contacto con la policía y motivos para obedecer la ley. El segundo objetivo fue analizar el poder predictivo de la percepción de la justicia procedimental y distributiva y de los contactos con la policía en la posterior percepción de la legitimidad por parte de los diferentes grupos étnicos. Participaron 351 sujetos divididos en dos grupos: blancos europeos (76.4%) y minorías étnicas (23.6%). Los resultados mostraron diferencias entre grupos en todas las variables del estudio, mostrando las minorías étnicas una actitud generalizada más negativa hacia el sistema legal en cuanto a justicia procedimental, justicia distributiva y legitimidad que les merece el sistema legal. Además, en ambos grupos la legitimidad que se concede a las autoridades legales se predijo a partir de la justicia procedimental, pero no de la distributiva ni del contacto con la policía. Se comentan algunas implicaciones prácticas fundamentadas en la importancia de la percepción que tienen los ciudadanos acerca de las autoridades legales (AU)

Polimorfismos genéticos del proto-oncogén RET asociados con la enfermedad de Hirschsprung en niños ecuatorianos / Genetic polymorphisms in the RET proto-oncogene associated with Hirschsprung's disease in Ecuadorian children

Contexto La enfermedad de Hirschsprung es un desorden congénito caracterizado por la ausencia de células ganglionares en una porción variable del tracto gastrointestinal. Está causada por defectos en la migración de las células del sistema nervioso entérico durante el desarrollo embrionario. Actualmente se sabe el proto-oncogén RET es el principal gen involucrado en la patogénesis de Hirschsprung. Objetivo Determinar la asociación entre los polimorfismos de nucleótido simple (SNP) presentes en los exones 2, 7 y 15 e intrón 1 del gen RET y la enfermedad de Hirschsprung en niños ecuatorianos. Diseño Estudio caso-control. Lugar y sujetos 41 casos con enfermedad de Hirschsprung y 41 controles procedentes del Hospital Pediátrico Baca Ortiz de la ciudad de Quito y del Hospital de Machachi (Área de Salud N° 16). Mediciones principales Análisis de los polimorfismos de nucleótido simple en los exones 2, 7, 15 e intrón 1 del gen RET, mediante las técnicas PCR-RFLP y secuenciación directa. Resultados El polimorfismo A45A (c135 G>A, exón 2) se asoció significativamente con la enfermedad de Hirschsprung (OR=11.2; IC95%=1.61­78.5; p=0.02). Los polimorfismos A432A (c1296G>A, exón 7) y S904S (c2712C>G, exón 15) mostraron tendencias sugestivas de un papel protector en la patogénesis de la enfermedad (OR=0.05; IC95%=0.01­0.25 y OR=0.13; IC95%=0.01­1.28, respectivamente). No se observó una asociación con el polimorfismo IVS1+1813 C>T (OR=4.16; IC95%=0.88­19.5). Conclusión Los polimorfismos estudiados del proto-oncogén RET desempeñan un papel importante en la etiología de la enfermedad de Hirschsprung en la población ecuatoriana.

Context Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in a variable portion of the gastrointestinal tract. It´s caused by defects in the migration of cells of the enteric nervous system during embryonic development. Nowadays the RET proto-oncogene is recognized as a major gene involved in the pathogenesis of Hirschsprung. Objective To determine the association between single nucleotide polymorphisms of the RET gene and Hirschsprung's disease in Ecuadorian children. Design Case control study. Subjects and setting 41 cases with Hirschsprung's disease and 41 controls from Children's Hospital "Baca Ortiz" and Hospital Machachi. Main measurements Analysis of single nucleotide polymorphisms in exons 2, 7, 15 and intron 1 of the RET gene by PCR-RFLP techniques and direct sequencing. Results A45A polymorphism (C135 G> A, exon 2) was significantly associated with Hirschsprung´s disease (OR=11.2; 95%CI=1.61­78.5; p=0.02). Polymorphism A432A (c1296G>A, exon 7) and S904S (c2712C>G, exon 15) showed trends of a protective role in the pathogenesis of the disease (OR= 0.05; 95%CI=0.01­0.25 and OR=0.13; 95%CI=0.01­1.28, respectively). There was no association with polymorphism IVS1 +1813 C>T (OR=4.16; 95%CI=0.88­19.5). Conclusion The studied polymorphisms confirm that the RET proto-oncogene plays an important role in the etiology of Hirschsprung in the Ecuadorian population.