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Abstract Introduction: Upper-body muscular endurance (UBME) and aerobic capacity (AC) are essential components of physical fitness. Low levels of these components are related to cardiovascular disease. Purpose: To assess the association between UBME and AC levels in college students of physical culture. Methodology: Analytical cross-sectional study carried out in 192 students (169 men, 23 women; median age 20 years). Every participant of the study signed written consent. UMBE was the dependent variable assessed by the push-up test, and AC was the main independent variable assessed using the 20 m shuttle run test. To analyze differences by sex, and academic semester, Fischer exact, Student's T, and U Mann-Whitney tests were applied. Descriptive, as well as bivariate and multivariate analysis, were realized using logistic regression models. Results: 82.29 % of participants had healthy levels of UBME. Respecting the academic semester, students had a higher probability of having healthy levels of UBME as semesters increased (OR: 1.23, 95 % CI: 1.06 to 1.44, p = 0.007). Concerning AC, 58.33 % of participants registered healthy levels. After adjusting by sex, age, socioeconomic level, and academic semester, maximum oxygen consumption (VO2max), was associated with healthy levels of UBME (OR: 1.157, CI 95 %: 1.O71 - 1.249, p=<0.001). Conclusions: Students had a higher probability of presenting healthy levels of UBME as semesters of study increased, and those with a higheVO2max were more likely to have healthy levels of UBME.

Resumen Introducción: La fuerza resistencia de miembros superiores (FRMS) y la capacidad aeróbica (CA) son componentes esenciales de la condición física. Bajos niveles de estos componentes están relacionados con la enfermedad cardiovascular. Propósito: El objetivo de este estudio fue evaluar la asociación entre los niveles de FRMS y la CA en estudiantes universitarios de cultura física. Metodología: Estudio transversal analítico realizado en 192 estudiantes (169 hombres, 23 mujeres; mediana de edad, 20 años). Cada participante firmó el consentimiento informado. FRMS fue la variable dependiente y se valoró con la prueba de flexiones de brazo, y la CA fue la variable independiente y se evaluó usando la prueba de ida y vuelta de 20 m. Para analizar las diferencias por sexo y semestre académico, fueron utilizadas las pruebas exacta de Fischer, T de Student y U de Mann-Whitney. Se realizaron análisis descriptivos, bivariados y múltiples, usando modelos de regresión logística. Resultados: El 82.29 % de los participantes registraron niveles saludables de FRMS. Respecto al semestre académico, se evidenció una probabilidad más alta de tener niveles saludables de FRMS al incrementarse los semestres de estudio (OR: 1.23, 95 % CI: 1.06 to 1.44, p = 0.007). En lo concerniente a la CA, el 58.33 % de los participantes registro niveles saludables. Después de realizar ajustes por sexo, edad, nivel socioeconómico y semestre académico, el consumo máximo de oxígeno (VO2máx), estuvo asociado con niveles saludables de FRMS (OR: 1.157, CI 95 % 1.O71 - 1.249, p=<0.001). Conclusiones: Los participantes presentaron una mayor probabilidad de tener niveles saludables de FRMS, a medida que incrementaron los semestres de estudio, y aquellos con niveles de VO2máx más alto, fueron más proclives a tener niveles saludables de FRMS.

Resumo Introdução: A resistência muscular do corpo superior (UBME) e a capacidade aeróbica (AC) são componentes essenciais da aptidão física. Baixos níveis desses componentes estão relacionados a doenças cardiovasculares. Propósito: Avaliar a associação entre os níveis de UBME e AC em estudantes universitários de cultura física. Metodologia: Estudo transversal analítico realizado com 192 estudantes (169 homens, 23 mulheres; idade média 20 anos). Todos os participantes do estudo assinaram consentimento por escrito. UBME foi a variável dependente avaliada pelo teste de flexão de braço, e AC foi a principal variável independente avaliada pelo teste de corrida de vaivém de 20 m. Para analisar diferenças por sexo e semestre acadêmico, foram aplicados testes exatos de Fischer, t de Student e U de MannWhitney. Análises descritivas, bivariadas e multivariadas foram realizadas usando modelos de regressão logística. Resultados: 82,29 % dos participantes apresentaram níveis saudáveis de UBME. Respeitando o semestre acadêmico, os estudantes tiveram uma probabilidade maior de ter níveis saudáveis de UBME conforme os semestres aumentavam (OR: 1,23, IC 95 %: 1,06 a 1,44, p = 0,007). Em relação à AC, 58,33 % dos participantes registraram níveis saudáveis. Após ajuste por sexo, idade, nível socioeconômico e semestre acadêmico, o consumo máximo de oxigênio (VO2max) foi associado a níveis saudáveis de UBME (OR: 1,157, IC 95 %: 1,071 - 1,249, p <0,001). Conclusões: Os estudantes tiveram uma probabilidade maior de apresentar níveis saudáveis de UBME conforme os semestres de estudo aumentaram, e aqueles com um VO2max mais alto tiveram maior probabilidade de ter níveis saudáveis de UBME.

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Introducción. La obesidad abdominal es considerada un factor de riesgo de enfermedad cardiovascular y diabetes. El consumo excesivo episódico de alcohol y la inactividad física también son factores de riesgo comportamentales asociados a enfermedades no transmisibles. Objetivo: Analizar la asociación entre la obesidad abdominal, el consumo de alcohol y la inactividad física en universitarios panameños. Materiales y métodos: Estudio transversal analítico realizado en 374 estudiantes universitarios panameños en el periodo abril ­ diciembre de 2021. Se implementó el cuestionario para la vigilancia de factores de riesgo de enfermedades no transmisibles de la Organización Mundial de la Salud y se evaluó la circunferencia de cintura. La obesidad abdominal se estableció con una circunferencia de cintura ≥80 cm en mujeres y ≥90 cm en hombres. Se realizaron análisis descriptivos, bivariados y múltiples usando modelos de regresión logística para determinar la asociación entre las variables del estudio. Las pruebas U Mann-Whitney y Chi cuadrado fueron utilizadas para analizar diferencias por sexo. Resultados: Una tercera parte de los universitarios participantes presentaron obesidad abdominal. Las mujeres reportaron mayores niveles de inactividad física (<0,0001) y conducta sedentaria (p=0,0010) que los hombres. Después de ajustar por sexo, edad y nivel socioeconómico, la obesidad abdominal estuvo asociada con la inactividad física (OR: 1,762, IC 95%: 1,040 ­ 2,985, p=0,035) y el consumo excesivo episódico de alcohol (OR 1,114, IC: 1,015 ­ 1,223, p=0,023). Conclusiones: Los universitarios panameños que reportaron bajos niveles de actividad física y consumo excesivo episódico de alcohol tuvieron una mayor probabilidad de registrar obesidad abdominal(AU)

Introduction. Abdominal obesity is considered a risk factor for cardiovascular disease and diabetes. Episodic excessive consumption of alcohol and physical inactivity are behavioral risk factors associated with non-communicable diseases. Objective: To analyze the association between abdominal obesity, alcohol consumption and physical inactivity in Panamanian university students. Materials and methods: Analytical cross-sectional study conducted on 374 Panamanian university students in the period April ­ December 2021. The questionnaire for the surveillance of risk factors for non-communicable diseases of the World Health Organization was implemented and waist circumference was evaluated. Abdominal obesity was established with a waist circumference ≥80 cm in women and ≥90 cm in men. Descriptive, bivariate, and multiple analyzes were performed using logistic regression models to determine the association between the study variables. The Mann-Whitney U and Chi square tests were used to analyze differences by sex. Results: A third of the participating university students had abdominal obesity. Women reported higher levels of physical inactivity (<0,0001) and sedentary behavior (p=0,0010) than men. After adjusting for sex, age and socioeconomic status, abdominal obesity was associated with physical inactivity (OR: 1,762, 95% CI: 1,040 ­ 2,985, p=0,035) and episodic heavy alcohol consumption (OR 1,114, CI: 1,015 ­ 1,223, p=0,023). Conclusions: Students who reported low levels of physical inactivity and binge drinking were more likely to have abdominal obesity(AU)

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OBJECTIVES: To evaluate the performance of a two-step strategy compared with the International Ovarian Tumor Analysis (IOTA) - Assessment of Different NEoplasias in the adneXa (ADNEX) model for preoperative classification of adnexal masses. METHODS: An ambispective diagnostic accuracy study based on ultrasound data collected at one university hospital between 2012 and 2018. Two ultrasonographers classified the adnexal masses using IOTA Simple Rules (first step). Not classifiable masses were evaluated using the IOTA ADNEX model (second step). Also, all masses were classified using the IOTA ADNEX model. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV), positive likelihood ratio (LR+) and negative likelihood ratio (LR-), and receiver operating characteristic (ROC) curve were estimated. A P value of <.05 was used to determine statistical significance. RESULTS: The study included 548 patients and 606 masses. Patients' median age was 41 years with an interquartile range between 32 and 51 years. In the first step, 89 (14%) masses were not classifiable. In the second step, 55 (61.8%) masses were classified as malignant. Furthermore, for the totality of 606 masses, the IOTA ADNEX model estimated the probability that 126 (20.8%) masses were malignant. The two-step strategy had a sensitivity, specificity, PPV, NPV, LR+, LR-, and ROC curve of 86.8%, 91.01%, 51.9%, 98.4%, 9.7, 0.1, and 0.889, respectively; compared to IOTA ADNEX model that had values of 91.8%, 87.16%, 44.4%, 99%, 7.1, 0.09, and 0.895, respectively. CONCLUSION: The two-step strategy shows a similar diagnostic performance when compared to the IOTA ADNEX model. The IOTA ADNEX model involves only one step and can be more practical, and thus would be recommended to use.

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Introducción: Los universitarios colombianos registran bajos niveles de lectura. Esta problemática es causada en parte por políticas de gobierno inadecuadas para el fomento de la lectura e incide en los resultados de las pruebas Saber Pro. Objetivo: Establecer la asociación entre el rendimiento académico y el tiempo de lectura académica semanal de una muestra de estudiantes universitarios de cultura física, deporte y recreación. Métodos: Estudio transversal analítico realizado en 149 estudiantes matriculados en el periodo 2018-II. Se realizaron análisis descriptivos, bivariados y múltiples usando modelos de regresión logística. Para establecer el tiempo de lectura se aplicó un cuestionario ad hoc. En el caso del rendimiento académico se consultó el promedio de notas acumulado del Sistema Académico de la universidad. Resultados: La mediana de promedio acumulado de calificaciones de los participantes fue de 3,90/5,0, RI: 0,5 (mujeres: 4,15; RI: 0,35; hombres: 3,9; RI: 0,4; p = 0,0038). La mediana de lectura semanal fue de 60 minutos RI: 150 (mujeres: 122,5; RI: 120; hombres: 60, RI: 160; p = 0,0139). Después de ajustar por sexo, edad y nivel socioeconómico, tener un promedio superior a 3,9/5,0 resultó asociado con más minutos de lectura semanal (OR: 1,004, IC 95 por ciento: 1,001 - 1,007, p = 0,007). Conclusiones: Las mujeres registran más tiempo de lectura semanal y mejor promedio académico que los hombres. Los estudiantes que tienen más minutos de lectura semanal tienen mayor probabilidad de tener un promedio acumulado mayor o igual a 3,9 sobre 5,0(AU)

Introduction: Colombian university students show low reading levels. This problem is caused in part by inadequate government policies to promote reading and affects the results of Saber Pro tests. Objective: Establish the association between academic performance and weekly academic reading time of a sample of university students of Physical Culture, Sports and Recreation. Methods: Cross-sectional analytical study conducted in 149 students enrolled in the period 2018-II. Descriptive, bivariate and multiple analyses were performed using logistic regression models. To establish the reading time, an ad hoc questionnaire was applied. In the case of academic performance, the accumulated grades average of the university's Academic System was consulted. Results: The median cumulative grades average of the participants was 3.90/5.0, IR: 0.5 (women: 4.15; RI: 0.35; men: 3.9; RI: 0.4; p = 0.0038). The median weekly reading was 60 minutes RI: 150 (women: 122.5; RI: 120; men: 60, RI: 160; p = 0.0139). After adjusting by sex, age and socioeconomic status, having an average above 3.9/5.0 was associated with more weekly reading minutes (OR: 1.004, 95 percent CI: 1.001 - 1.007, p = 0.007). Conclusions: Women have more weekly reading time and better academic average than men. Students who have more weekly reading minutes are more likely to have a cumulative average greater than or equal to 3.9 out of 5.0(AU)

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Introducción: El sobrepeso y la obesidad son considerados por la Organización Mundial de la Salud como un factor de riesgo metabólico asociado a enfermedades no transmisibles. Objetivo: Evaluar la asociación entre sobrepeso y obesidad con los antecedentes de colesterol sanguíneo elevado, presión arterial alta y diabetes sacarina. Métodos: Estudio transversal, analítico, realizado en 297 estudiantes de una universidad privada de Panamá. Se consideró como variable dependiente el sobrepeso-obesidad determinada para los participantes con un IMC ≥ 25 kg/m2. Para establecer los antecedentes de presión arterial alta, diabetes sacarina y colesterol sanguíneo elevado, se aplicó el cuestionario básico del instrumento STEPS de la Organización Mundial de la Salud. Fueron realizados análisis descriptivos, bivariados y múltiples utilizando modelos de regresión logística. Resultados: El 46,12 por ciento de la población de estudio presentó sobrepeso-obesidad. Los hombres mostraron una prevalencia estadísticamente significativa más alta que las mujeres. El 12,45 por ciento, 11,11 por ciento y 8,75 por ciento de los estudiantes reportaron antecedente de presión arterial alta, colesterol sanguíneo elevado y diabetes sacarina, respectivamente. Después de ajustar por sexo, edad y nivel socioeconómico, los participantes que reportaron antecedente de colesterol sanguíneo elevado en sangre presentaron una mayor probabilidad de tener sobrepeso-obesidad (OR = 2,92, IC 95 por ciento: 1,07-7,93, p = 0,035). Conclusiones: Casi la mitad de los universitarios presentaron sobrepeso-obesidad. Se encontró una mayor probabilidad de tener sobrepeso-obesidad en los estudiantes que reportaron colesterol sanguíneo elevado. Es importante la implementación de estrategias que promuevan la adquisición de hábitos de vida saludable en la población universitaria panameña con el objetivo de disminuir el riesgo cardiovascular futuro(AU)

Introduction: To the World Health Organization, overweight and obesity are metabolic risk factors for non-communicable diseases. Objective: Evaluate the association of overweight and obesity to a history of high blood cholesterol, high arterial pressure and diabetes mellitus. Methods: An analytical cross-sectional study was conducted of 297 students from a private university in Panama. Overweight-obesity was considered as a dependent variable determined for participants with a BMI ≥ 25 kg/m2. High arterial pressure, diabetes mellitus and high blood cholesterol antecedents were established with the basic questionnaire in the STEPS World Health Organization tool. Descriptive, bivariate and multiple analyses were performed with the use of logistic regression models. Results: 46.12 percent of the study population were overweight-obese. Statistically significant prevalence was higher in men than in women. 12.45 percent, 11.11 percent and 8.75 percent of the students surveyed reported a history of high arterial pressure, high blood cholesterol and diabetes mellitus, respectively. After adjustment for sex, age and socioeconomic level, participants reporting a history of high blood cholesterol had a greater probability of being overweight-obese (OR = 2.92, CI 95 percent: 1.07-7.93, p = 0.035). Conclusions: Almost half of the university students were overweight-obese. A higher probability of being overweight-obese was found in students reporting high blood cholesterol. It is necessary to implement strategies fostering the acquisition of healthy living habits by the Panamanian university population, thus reducing future cardiovascular risk(AU)

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CONTEXT: 21-hydroxylase deficiency is the most common cause of Congenital Adrenal Hyperplasia. It presents as severe or classical forms-salt wasting and simple virilizing-and a mild or nonclassical (NC). Several studies have reported the frequency of pathogenic variants in different populations, although few of them included a large number of NC patients. OBJECTIVE: To analyse the CYP21A2 gene defects in a large cohort of Argentine patients. DESIGN: Molecular characterization of 628 patients (168 classical, 460 nonclassical, representing 1203 nonrelated alleles), 398 relatives, 126 partners. METHODS: Genetic variants were assessed by allele-specific PCR, PCR-RFLP or direct sequencing. Deletions, duplications and large gene conversions (LGC) were studied by Southern blot/MLPA or long-range PCR. Biological implications of novel variants were analysed by structure-based in silico studies. RESULTS: The most frequent pathogenic variants were p.V282L (58%) in NC alleles and c.293-13C>G (31.8%) and p.I173N (21.1%) in classical. Deletions and LGC were found at low frequency (6.2%), 57 alleles had rare pathogenic variants, and 3 had novel variants: p.(S166F); p.(P189R), p.(R436L). Genotype-phenotype correlation was observed in 98.6% of the cases, 11 asymptomatic first-degree relatives had pathogenic variants in both alleles, and 21/126 partners were carriers. CONCLUSIONS: We conducted a comprehensive genetic characterization of the largest cohort of 21-hydroxylase patients from the region. In particular, we add to the molecular characterization of a large number of NC patients and to the estimation of the disease carrier's frequency in our population.

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Introducción: La inactividad física es un factor de riesgo comportamental que se define como la realización de menos de 150 minutos de actividad física a la semana de intensidad moderada, por otra parte, la conducta sedentaria hace referencia al tiempo que se permanece sentado o acostado en reposo. Objetivo: Determinar la correlación existente entre los niveles de actividad física, en cada uno de los dominios, y la conducta sedentaria de los senderistas de Bucaramanga, y área metropolitana. Métodos: Estudio correlacional realizado en 170 senderistas de Bucaramanga y área metropolitana. Las variables se analizaron en medidas de tendencia central o frecuencias según su naturaleza. Se utilizó la prueba U de Mann-Whitney para establecer diferencias estadísticamente significativas entre las variables categorías y continúas de interés. Se calculó coeficiente de Pearson para establecer una posible correlación en las variables de interés. El nivel de significancia fue de p ≤ 0,05. Resultados: Se registró una prevalencia nula de inactividad física en la población de estudio. No se encontraron diferencias estadísticamente significativas al analizar las medianas de actividad física en cada uno de los dominios según sexo. El dominio de mayor realización de actividad física fue el del tiempo libre. Se estableció una correlación negativa entre la conducta sedentaria y la cantidad de actividad física y el gasto energético semanal. Conclusiones: La totalidad de los senderistas encuestados son físicamente activos y cumplen ampliamente con las recomendaciones de actividad física para la salud de la OMS, además de registrar bajos niveles de conducta sedentaria. Se determinó una correlación negativa entre la conducta sedentaria y la cantidad de actividad física y el gasto energético semanal(AU)

Introduction: physical inactivity is a behavioral risk factor that is defined as the realization of less than 150 moderate intensity physical activity per week, oh the other hand, sedentary behavior has to do with the time a person spend sitting or lying down. The objective of this study was to determine if there is a correlation between physical activity levels, in each domain, and the sedentary behavior of hikers from Bucaramanga, and its metropolitan area. Methods: correlational study carried out in 170 hikers from Bucaramanga and its metropolitan area. Variables were analyzed using central tendencies measures or frequencies according to its nature. U - Mann-Whitney test was utilized to establish differences statistically significant between categorical and continuous variables of interest. Pearson coefficient was calculated to establish a possible correlation between variables of interest. Significant level was of p ≤ 0.05 Results: a non-existent prevalence of physical inactivity was registered in hikers. No differences statistically significant were found when analyzing physical activity medians in each domain according to sex. Free time was the domain in which participants reported more physical activity. A negative correlation was established between sedentary behavior and the quantity of physical activity and weekly energy expenditure. Conclusions: All hikers interviewed are physically active and widely fulfill WHO recommendations on physical activity for health, besides, participants reported low levels of sedentary behavior. A negative correlation was stablished between sedentary behavior and the quantity of physical activity and weekly energy expenditure(AU)

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Introducción: El senderismo es un tipo de actividad física en la naturaleza que consiste en recorrer senderos señalizados. Una composición corporal poco saludable es considerada por la Organización Mundial de la Salud como un factor de riesgo biológico asociado a enfermedades no transmisibles. Objetivo: Determinar la composición corporal en senderistas de Bucaramanga y área metropolitana. Métodos: Se realizó un estudio transversal analítico en 133 senderistas con una edad promedio de 51,28 años. Se determinó la composición corporal a través del Índice de Masa Corporal, el porcentaje de grasa y la circunferencia de la cintura. Las variables se analizaron en medidas de tendencia central o frecuencias según su naturaleza. Para establecer diferencias estadísticamente significativas se utilizaron la prueba exacta de Fischer y t-student el nivel de significancia fue de p < 0,05. Resultados: La mediana de años de práctica del senderismo fue de 4 años. El 93,23 por ciento de los participantes practica el senderismo con frecuencia semanal. EL 52,63 por ciento de los participantes presenta sobrepeso/obesidad. El 33,08 por ciento presenta obesidad abdominal y el 31,58 por ciento de los senderistas registra obesidad con relación al porcentaje de grasa. Al analizar por género no se encontraron diferencias estadísticamente significativas. Conclusiones: Los senderistas presentan niveles de sobrepeso-obesidad, obesidad central y obesidad por porcentaje de grasa similares a los de la población en general. Se recomienda la implementación de un programa de educación nutricional. Se sugiere para próximos trabajos de investigación profundizar en los demás componentes de la condición física orientada a la salud y factores de riesgo biológicos(AU)

In the World Health Organization, less-than-healthy body composition is a biological risk factor for non-communicable diseases. Objective: Determine the body composition of hikers from Bucaramanga and its metropolitan area. Methods: An analytical cross-sectional study was conducted of 133 hikers, mean age 51.28 years. Body composition was determined by body mass index, fat percentage and waist circumference. Variables were analyzed as measures of central tendencies or frequencies, depending on their nature. Statistically significant differences were established by Fisher's exact test and Student's t-test, with a significance level of p < 0.05. Results: Mean time of hiking practice was 4 years. Of the total participants, 93.23 percent practice hiking with a weekly frequency, 52.63 percent are overweight / obese, 33.08 percenthave abdominal obesity, and 31.58 percent are obese in terms of fat percentage. No statistically significant differences were found between the sexes. Conclusions: Levels of overweight / obesity, central obesity, and fat percentage obesity among hikers are similar to those of the general population. It is recommended to implement a nutrition education program. It is suggested that future research approaches the remaining components of physical condition in the light of health and biological risk factors(AU)

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Objetivo: Evaluar la asociación entre el consumo de frutas y verduras, tabaquismo y consumo perjudicial de alcohol y la actividad física en cada dominio en estudiantes universitarios de Bucaramanga, Colombia. Metodología: Estudio analítico de corte transversal en estudiantes (n=385) de una universidad privada de Bucaramanga, en el año 2016. Se realizaron análisis descriptivos, bivariados y múltiples usando modelos de regresión logística. Para la recolección de la información se aplicó el cuestionario para la vigilancia de factores de riesgo de enfermedades crónicas de la Organización Mundial de la salud. Se solicitó el consentimiento informado por escrito a los participantes. Resultados: El 39,48% de los estudiantes participantes eran físicamente inactivos. El 52,21% presentó consumo excesivo episódico de alcohol. El 16,88% fuma de manera regular y el 87,21% reportó un bajo consumo de frutas y verduras. Después de ajustar por sexo, edad y nivel socioeconómico, la actividad física en el tiempo libre resultó asociada con el bajo consumo de frutas y verduras (OR: 0,48, IC 95%: 0,24, 0,96, p=0,040). Conclusiones: Los estudiantes que realizan más actividad física durante el tiempo libre tienen menor probabilidad de presentar bajo consumo de frutas y verduras. Es importante implementar estrategias que promuevan la adquisición de hábitos de vida saludable en población universitaria con el n de disminuir el riesgo futuro de padecer enfermedades crónicas no transmisibles.

Objective: To assess the association between low intake of fruits and vegetables, smoking and harmful alcohol consumption with physical activity in each domain in university students from Bucaramanga, Colombia. Methods: Cross-sectional analytical study carried out with university students (n=385) from a private university of Bucaramanga. Descriptive, bivariate and multivariate analysis were performed using logistic regression models. The Noncommunicable Disease Risk Factor Surveillance from the World Health Organization was applied to collect data. Written informed consent was requested from the participants of the study. Results: It was found that 39.48% of participants were physically inactive, 52.21% had excesive episodic alcohol consumption,16.88% smoked regularly, and 87.21% reported low consumption of fruits and vegetables. After adjusting gender, age and socioeconomic level, physical activity during leisure time was associated with low consumption of fruits and vegetables (OR: 0.48, IC 95%: 0.24, 0.96, p=0.040). Conclusions: Students who perform more physical activity during leisure time are less likely to have low consumption of fruits and vegetables. It is important to implement strategies that promote the acquisition of healthy habits in university students in order to reduce future risk of suffering noncommunicable diseases.

Objetivo: Avaliar a associação entre o consumo de frutas e verduras, tabaquismo e consumo prejudicial de álcool e a atividade física em cada domínio em estudantes universitários de Bucaramanga, Colômbia. Metodologia: Estudo analítico de corte transversal em estudantes (n=385) de uma universidade privada de Bucaramanga, no ano 2016. Realizam análise descritiva, bivariados e múltiples usando modelos de regressão logística. Para a coleta da informação se aplicou o questionário para a vigilância de fatores de risco de doenças crônicas da Organização Mundial da saúde. Solicitou-se o consentimento informado por escrito aos participantes. Resultados: O 39,48% dos estudantes participantes eram sicamente inativos. O 52,21% apresentou consumo excessivo episódico de álcool. O 16,88% fuma de maneira regular e o 87,21% mostrou um menor consumo de frutas e verduras. Depois de ajustar por sexo, idade e nível socioeconômico, a atividade física no tempo livre resultou associada com o baixo consumo de frutas e verduras (OR: 0,48, IC 95%: 0,24, 0,96, p=0,040). Conclusões: Os estudantes que realizam mais atividade física durante o tempo livre têm menor probabilidade de apresentar baixo consumo de frutas e verduras. È importante estabelecer estratégias que promovam a aquisição de hábitos de vida saudável em povoação universitária com o m de diminuir o risco futuro de padecer doenças crônicas não transmissíveis.

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90-95% of CAH cases. In this work we performed an extensive survey of mutations and SNPs modifying the coding sequence of the CYP21A2 gene. Using bioinformatic tools and two plausible CYP21A2 structures as templates, we initially classified all known mutants (n = 343) according to their putative functional impacts, which were either reported in the literature or inferred from structural models. We then performed a detailed analysis on the subset of mutations believed to exclusively impact protein stability. For those mutants, the predicted stability was calculated and correlated with the variant's expected activity. A high concordance was obtained when comparing our predictions with available in vitro residual activities and/or the patient's phenotype. The predicted stability and derived activity of all reported mutations and SNPs lacking functional assays (n = 108) were assessed. As expected, most of the SNPs (52/76) showed no biological implications. Moreover, this approach was applied to evaluate the putative synergy that could emerge when two mutations occurred in cis. In addition, we propose a putative pathogenic effect of five novel mutations, p.L107Q, p.L122R, p.R132H, p.P335L and p.H466fs, found in 21-hydroxylase deficient patients of our cohort.

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INTRODUCCIÓN Los defectos del tubo neural (DCTN) son las anomalías congénitas (AC) más frecuentes del sistema nervioso central. Existe evidencia que el consumo de ácido fólico (AF) a dosis adecuadas durante un período periconcepcional determinado, disminuye el riesgo de ocurrencia y recurrencia de DCTN. Esta medida, si bien muy efectiva, es de difícil aplicación ya que un 50% de los embarazos no son planificados, por lo que la toma de AF comienza tardíamente, fuera del momento donde la vitamina hace su efecto. OBJETIVO El presente trabajo se propone evaluar los conocimientos, actitudes y prácticas acerca del uso del AF en mujeres puérperas, para poder determinar qué variables condicionan los mismos. MÉTODOS Diseño; estudio descriptivo, transversal. Entrevistas; realizadas a mujeres puérperas de 15 años o más, que se encontraban en la internación conjunta con un recién nacido sano, con o sin antecedentes familiares de AC. Se incluyeron instituciones del sector público y privado de 3 regiones de la Argentina. RESULTADOS Entre período de julio 2016 a mayo 2017 un total de 160 mujeres fueron entrevistadas. El 24% poseía conocimientos adecuados sobre el papel del AF en la prevención de DTN. Se halló un consumo correcto de AF en un 26% de los casos. Estos valores ascendían al 50% o más en el sector privado, y superaron el 60% en aquellas con nivel socioeconómico (NSE) alto. Solo un 30% de nuestra población planificó su embarazo. DISCUSIÓN Aquellas con conocimiento adecuado sobre el AF se encontraban en su mayoría dentro del NSE alto y había concurrido al sistema privado de salud (OR 0.42 IC95% 0.09-1.83). La suplementación adecuada con AF fue menor en mujeres con menor NSE y en aquellas asistidas en el sector público de salud. La suplementación se realizó en mayor proporción en las regiones Patagonia y la ciudad de Córdoba, respecto al resto de las regiones. El mal control del embarazo aumenta el riesgo del consumo inadecuado del AF (OR 2.4 IC95% 0.4-15.8)

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The aim of the current study was to search for the presence of genetic variants in the CYP21A2 Z promoter regulatory region in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Screening of the 10 most frequent pseudogene-derived mutations was followed by direct sequencing of the entire coding sequence, the proximal promoter, and a distal regulatory region in DNA samples from patients with at least one non-determined allele. We report three non-classical patients that presented a novel genetic variant-g.15626A>G-within the Z promoter regulatory region. In all the patients, the novel variant was found in cis with the mild, less frequent, p.P482S mutation located in the exon 10 of the CYP21A2 gene. The putative pathogenic implication of the novel variant was assessed by in silico analyses and in vitro assays. Topological analyses showed differences in the curvature and bendability of the DNA region bearing the novel variant. By performing functional studies, a significantly decreased activity of a reporter gene placed downstream from the regulatory region was found by the G transition. Our results may suggest that the activity of an allele bearing the p.P482S mutation may be influenced by the misregulated CYP21A2 transcriptional activity exerted by the Z promoter A>G variation.

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%-95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form. Most of the disease-causing mutations described are likely to be the consequence of nonhomologous recombination or gene conversion events between the active CYP21A2 gene and its homologous CYP21A1P pseudogene. Nevertheless, an increasing number of naturally occurring mutations have been found. The change p.H62L is one of the most frequent rare mutations of the CYP21A2 gene. It was suggested that the p.H62L represents a mild mutation that may be responsible for a more severe enzymatic impairment when presented with another mild mutation on the same allele. In this report, a 20-year-old woman carrying an isolated p.H62L mutation in compound heterozygosity with c.283-13A/C>G mutation is described. Although a mildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistent with a more severe simple virilizing form of 21-hydroxylase deficiency. The study of genotype-phenotype correlation in additional patients would help in defining the role of p.H62L in disease manifestation.

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UNLABELLED: Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG)(n) in the HTT gene. There is scarce data about the disease in Argentina. OBJECTIVE: To describe the demographic, clinical and molecular data in patients with HD from Argentina. PATIENTS AND METHODS: 59 HD patients were recruited at our department. Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). RESULTS: 32 women and 27 men were diagnosed with a mean age of 45.7 ± 16.2 years and a mean age at onset of 35.8 ± 14.8 years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r = -0.58, r(2) = 33.6, Pearson's correlation coefficient p = 0.0008. Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. CONCLUSIONS: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations.

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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nucleotide sequence identity CYP21A1P pseudogene, on chromosome 6p21.3. Even though most patients carry CYP21A1P-derived mutations, an increasing number of novel and rare mutations in disease causing alleles were found in the last years. In the present work, we describe five CYP21A2 novel mutations, p.R132C, p.149C, p.M283V, p.E431K and a frameshift g.2511_2512delGG, in four non-classical and one salt wasting patients from Argentina. All novel point mutations are located in CYP21 protein residues that are conserved throughout mammalian species, and none of them were found in control individuals. The putative pathogenic mechanisms of the novel variants were analyzed in silico. A three-dimensional CYP21 structure was generated by homology modeling and the protein design algorithm FoldX was used to calculate changes in stability of CYP21A2 protein. Our analysis revealed changes in protein stability or in the surface charge of the mutant enzymes, which could be related to the clinical manifestation found in patients.

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Penguin feathers are highly modified in form and function, but there have been no fossils to inform their evolution. A giant penguin with feathers was recovered from the late Eocene (~36 million years ago) of Peru. The fossil reveals that key feathering features, including undifferentiated primary wing feathers and broad body contour feather shafts, evolved early in the penguin lineage. Analyses of fossilized color-imparting melanosomes reveal that their dimensions were similar to those of non-penguin avian taxa and that the feathering may have been predominantly gray and reddish-brown. In contrast, the dark black-brown color of extant penguin feathers is generated by large, ellipsoidal melanosomes previously unknown for birds. The nanostructure of penguin feathers was thus modified after earlier macrostructural modifications of feather shape linked to aquatic flight.

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It is well known that testosterone (T) influences the expression of the behavior and many sexual traits during reproduction in vertebrates. However, patterns of circulating concentrations of T vary tremendously across free-living populations. Here the profiles of plasma T levels in the Magnificent Frigatebird, Fregata magnificens, are presented during the courtship, incubation and chick rearing stages of breeding. In addition, the predicted interrelationship of T and the expression of a sexually selected trait, the red gular pouch of males is investigated. Plasma levels of corticosterone (Cort) are reported in relation to the demands of breeding conditions in colonies. Blood samples were obtained from 26 males and 32 females in the 1993-1994 breeding season and 41 courting males in 1997. Pouch color and size were also estimated in these males. As expected, T levels changed across the breeding stages: birds showed high levels of T during courtship and much lower circulating levels during incubation and chick rearing. Consistent with the expected effect of T, individual pouch color and size correlated with circulating levels of this hormone. In this highly dimorphic species no correlation was found between T and body condition or tail asymmetry. Cort, in contrast, did not change across the three reproductive stages.

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El objetivo de este estudio fue identificar qué aspectos influyen, de manera significativa, en el sentido de vida en estudiantes, entre 16 y 34 años de edad, pertenecientes a la Carrera de Psicología de la Pontificia Universidad Javeriana de Cali. Para la recolección de la información se utilizó la escala existencial de A. Langle y C. Orgler, un instrumento técnico para el abordaje preventivo, diagnóstico y terapéutico del sentido de vida; el instrumento presentó 46 reactivos, divididos en cuatro sub-escalas: auto distanciamiento (AD), auto trascendencia (AT), libertad (L), responsabilidad (R). Dicho instrumento tuvo una calificación de tipo Likert. La muestra se conformó con un total de 277 estudiantes, distribuidos en 60 hombres y 217 mujeres, todos pertenecientes a la Carrera de Psicología, desde primero a décimo semestre. Los resultados muestran que los puntajes obtenidos se ubicaron por debajo de la media para todas las variables (edad, género y semestre) con un puntaje de 177.83 para la escala total, lo que indica que el nivel de sentido de vida de los estudiantes es bajo, sin diferencias significativas en ninguna de las variables con relación al sentido de vida.

The purpose of this study was to identify the aspects which have a significant influence on the meaning of life for psychology students between 16 and 34 years old at the Pontificia Universidad Javeriana, Cali. The instrument used to gather the information was the A. Langle and C. Orgler existential test, a technical instrument consisting of 46 items, divided into four sub groups: self-distancing, self-transcendence, freedom, and responsibility. The sample was made up of 277 students, 60 men and 217 women, ranging from first to tenth semester. The results show that the scores obtained were below average for all the variables (age, gender, and semester) with a total score of 177.83 for the total scale, which means that the meaning of life is placed at a low level, without significant differences for any of the variables relating to the meaning of life.

O objetivo deste estudo foi identificar que aspectos influem de maneira significativa no sentido de vida em estudantes, entre 16 e 34 anos de idade, pertencentes à Carreira de Psicologia da Pontifícia Universidade Javeriana de Cali. Para a colheita da informação se utilizou a escala existencial de. Langle e R. Orgler, um instrumento técnico para a abordagem preventivo, diagnóstico e terapêutico do sentido de vida; o instrumento apresentou 46 reativos, divididos em quatro sub-escalas: Auto Distanciamento (AD), Auto Transcendência (AT), Liberdade (L), Responsabilidade (R). Dito instrumento teve uma qualificação de tipo Likert. A mostra se conformou com um total de 277 estudantes, distribuídos em 60 homens e 217 mulheres, todos pertencentes à Carreira de Psicologia desde primeiro a décimo semestre. Os resultados mostram que os puntajes obtidos ficaram embaixo da meia para todos os fatores (idade, gênero e semestre) com um puntaje de 177.83 para a escala total, o que indica que o nível de sentido de vida dos estudantes se encontra em um nível baixo, sem diferenças significativas em nenhum dos fatores com relação ao sentido de vida.

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Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. Our aim is to describe a group of CAIS patients in our centre and identify the difficulties in the diagnosis. The amount of patients with inguinal hernia in childhood was remarkable (83%). Interestingly, the diagnosis was suspected later when patients presented primary amenorrhea. CAIS must be suspected every time a female child shows inguinal hernia. Early diagnosis is very important for a correct genetic counseling.

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El síndrome de insensibilidad completa a los andrógenos (SICA)es una enfermedad genética producida por mutaciones en elreceptor de andrógenos en individuos con cariotipo masculino(46, XY). Fenotípicamente, estos pacientes tienen genitalesexternos femeninos no ambiguos, bolsa vaginal ciega, estructurasmullerianas ausentes o vestigiales y testículos localizadosen labios, canal inguinal o abdomen. El objetivo de este trabajofue caracterizar a las pacientes con SICA en nuestro centro eidentificar las dificultades diagnósticas de este cuadro. Laproporción de pacientes con antecedente de hernia inguinal enla infancia (83 por ciento) fue significativa. A pesar de esto, la sospechadiagnóstica surgió más tarde, cuando las pacientes se presentaroncon amenorrea primaria. El diagnóstico podría sospecharseprecozmente ya que la hernia inguinal es poco frecuenteen niñas. El diagnóstico precoz es importante para el correctoy oportuno asesoramiento genético.

Complete androgen insensitivity syndrome (CAIS) is a genetic disease caused by mutations in the androgen receptor gene. CAIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial testes. Our aim is to describe a group of CAIS patients in our centre and identify the difficulties in the diagnosis. The amount of patients with inguinal hernia in childhood was remarkable (83%). Interestingly, the diagnosis was suspected later when patients presented primary amenorrhea. CAIS must be suspected every time a female child shows inguinal hernia. Early diagnosis is very important for a correct genetic counseling.

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