Maturity-onset Diabetes of the Young Type 7 (MODY7) and the Krüppellike Factor 11 Mutation (KLF11). A Review.

INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare disease due to a single gene mutation that affects several family members in most cases. The Krüppel-like factor 11 (KLF11) gene mutation is associated with decreased insulin sensitivity to high glucose levels. KLF 11 has been implicated in the pathogenesis of MODY type 7 but given its low prevalence, prolonged subclinical period, and the emergence of new information, doubts are raised about its association. METHODS: A literature search of the PubMed, Scopus, and EBSCO databases was performed. The terms "Diabetes Mellitus, Type 2/genetics", "Mason-Type Diabetes" , "Maturity-Onset diabetes of the young", "KLF11 protein, human", and "Maturity-Onset Diabetes of the Young, Type 7" were used"., "Diagnosis" The search selection was not standardized. RESULTS: The KLF1 mutation is rare and represents <1% of the mutations associated with monogenic diabetes. Its isolation in European family lines in the first studies and the emergence of new variants pose new diagnostic challenges. This article reviews the definition, epidemiology, pathophysiology, diagnosis, and treatment of MODY type 7. CONCLUSION: MODY type 7 diabetes represents a rare form of monogenic diabetes with incomplete penetrance. Given its rarity, its association with impaired glucose metabolism has been questioned. Strict evaluation of glycemic control and the appearance of microvascular complications are key areas in the follow-up of patients diagnosed with MODY 7. More studies will be required to characterize the population with KLF11 mutation and clarify its correlation with MODY.

Eradication of introduced fish allows successful recovery of a stream-dwelling amphibian.

Introduction of alien fish is a major problem for the conservation of amphibians inhabiting originally fishless mountain streams. While fish eradication programs in lakes and ponds have proven successful for the recovery of amphibian populations, there is no such information for stream-dwelling amphibians, possibly because fish removal from streams is difficult and costly. Here, we show the first case of successful recovery of a stream-dwelling amphibian (Rana iberica) in a mountain area of central Spain, following eradication of introduced brook trout (Salvelinus fontinalis) and native brown trout (Salmo trutta) translocated from downstream reaches by local anglers. Electrofishing for 12 consecutive years eradicated both fish species in the introduced area, and allowed the recovery of the R. iberica population as a result of natural recolonization from nearby streams and reintroduction of captive-reared individuals. Our results demonstrate how electrofishing can be a costly but effective method for the eradication of introduced fish and the conservation of stream-dwelling amphibians.

Concordancia entre escalas Framingham ATP III, SCORE y ACC/AHA 2013. En una cohorte de pacientes en un hospital de cuarto nivel en el año 2015 / Concordance between the Framingham ATP III SCORE and ACC/AHA 2013 Scales. En a cohort of patients in a fourth level hospital in 2015

Resumen Introducción: identificar las personas sin enfermedad cardiovascular establecida con alto riesgo es el objetivo de la intervención primaria en prevención cardiovascular. En nuestro medio se han aplicado múltiples escalas de riesgo cardiovascular; sin embargo, en Colombia la única escala validada es la de Framingham. Objetivo: estimar la concordancia entre las escalas Framingham ATP III, SCORE y ACC/ AHA 2013 para la predicción de riesgo cardiovascular en pacientes entre 40 y 75 años en una institución de cuarto nivel durante el año 2015. Material y métodos: estudio de tipo observacional de corte transversal en pacientes de 40 -75 años que asistieron durante el año 2015 en el servicio de chequeo general de un hospital de cuarto nivel, de 4783 individuos se tomó una muestra aleatorizada simple de 861, se calculó el riesgo cardiovascular con las escalas de Framingham, SCORE y AHA/ACC2013. Se describieron las variables cualitativas mediante distribuciones de frecuencias, las variables cuantitativas con medidas de tendencia central, se realizó un análisis bivariado con el coeficiente de correlación Kappa de Cohen considerándose como buena correlación >60. Resultados: el cálculo del riesgo cardiovascular con cada una de las escalas encontró para alto riesgo AHA 2013 de 14.6%, Framingham 2.2% y SCORE con 1.1%. Para riesgo medio SCORE de 26.9%, AHA 2013 de 17.1% y Framingham de 14.4%, y riesgo bajo la estimación fue de Framingham de 83.3%, SCORE de 73% y AHA 2013 68.3%. El índice de concordancia de Kappa de Cohen para alto riesgo cardiovascular entre la escala Framingham modificada y SCORE se evidencia fuerza de concordancia moderada (Kappa: 0.47) al calcular este índice entre Framingham modificada y AHA 2013 la fuerza concordancia es débil (Kappa: 0.3497). Conclusión: con los hallazgos del estudio se concluye que el comportamiento en cuanto a la estimación de riesgo de las escalas de SCORE y AHA 2013 no es concordante, por lo tanto, sus estimaciones no son intercambiables, tendiendo a sobreestimar o subestimar el riesgo. (Acta Med Colomb 2018; 43: 192-199).

Abstract Introduction: identifying people without established cardiovascular disease at high risk is the goal of primary intervention in cardiovascular prevention. In our environment, multiple scales of cardiovascular risk have been applied; however, in Colombia the only scale validated is Framingham. Objective: to estimate the agreement between the Framingham ATP III, SCORE and ACC / AHA 2013 scales for the prediction of cardiovascular risk in patients between 40 and 75 years old in a fourth level institution during 2015. Material and methods: cross-sectional observational study in patients aged 40-75 years who attended in 2015 in the general check-up service of a fourth-level hospital. Of 4783 individuals a simple randomized sample of 861 was taken. Cardiovascular risk with the Framingham, SCORE and AHA / ACC2013 scales was calculated. Qualitative variables were described by frequency distributions, quantitative variables with measures of central tendency, and a bivariate analysis was performed with Cohen's Kappa correlation coefficient considering as a good correlation > 60. Results: the calculation of cardiovascular risk with each of the scales found for high risk AHA 2013 of 14.6%, Framingham 2.2% and SCORE with 1.1%. For average risk SCORE of 26.9%, AHA 2013 of 17.1% and Framingham of 14.4%, and risk under the estimate was of Framingham of 83.3%, SCORE of 73% and AHA 2013 68.3%. The Cohen's Kappa concordance index for high cardiovascular risk between the modified Framingham scale and SCORE evidence a moderate concordance strength (Kappa: 0.47); when calculating this index between modified Framingham and AHA 2013 concordance strength is weak (Kappa: 0.3497). Conclusion: with the findings of the study it is concluded that the behavior regarding the risk estimation of SCORE and AHA 2013 scales is not concordant; therefore, their estimates are not interchangeable, tending to overestimate or underestimate the risk. (Acta Med Colomb 2018; 43: 192-199).

Psicoterapia familiar en casos de abuso sexual: la utilización de las emociones como recurso para el restablecimiento de límites en los trastornos de la conducta antisocial / No disponible

A través de un caso de una adolescente víctima de abuso sexual se revisan lospresupuestos sistémicos y constructivistas del trabajo con familias. El trabajo clínicodestaca la importancia de las emociones como instrumento de cambio y reconstrucciónde los vínculos y los límites en las relaciones madre-hija tras un abuso intrafamiliar. Seconcluye con la propuesta de la utilización de modelos que integren los distintos recursospara trabajar con sistemas organizados por traumas sin perder de vista la necesidad deun trabajo individual e intenso con los menores víctimas del abuso(AU)

Through a case of a teenage victim of sexual abuse are reviewed contributionsabout constructivist systemic work with families. Clinical work highlights the importanceof emotions as an instrument of change and reconstruction of the linkages andboundaries between mother and daughter after sexual abuse by stepfather. It concludeswith the suggestion of the use of models that integrate various resources for workingwith organized trauma systems and the need for an intense individual work with childvictims of abuse(AU)

Autism: alterations in auditory perception.

Investigations made in previous decades about irregularities in auditory perception in individuals with autism are reviewed and revised clinical and theoretical implications are provided. Emphasis is placed on the fact that these auditory perception irregularities of people with autism are very important for the understanding of the symptoms, for the search of its etiology, for the implementation of an adequate treatment program, and for the formulation of an adequate theoretical explanation of the syndrome.

Form and performance: body shape and prey-capture success in four drift-feeding minnows.

Identifying links between morphology and performance for ecologically relevant tasks will help elucidate the relationships between organismal design and fitness. We conducted a laboratory study to quantify the relationship between variation in body shape and prey-capture success in four drift-feeding minnow species. We offered drifting prey to individual fish in a test flume, counted successful strikes to measure prey-capture success and recorded the position (X, Y coordinates) of ten landmarks on each fish's outline to delineate the specimen's form. We then quantified shape variation among species and related it to capture performance through thin-plate spline analysis. Body shape varied significantly among species and with specimen size and was the major determinant of capture success, explaining 45-47% of its variability. Prey-capture success at differing velocities differed among species, but once the effects of shape and size were accounted for, those differences were no longer significant. Allometric shape changes appeared responsible for most of the ontogenetic variation in capture performance, although other size-related, non-shape factors also seemed relevant. Fishes with deeper, shorter bodies, more caudally placed median fins and larger, more upward-pointing mouths exhibited greater capture success than more fusiform fish, suggesting that streamlining, which is energetically advantageous for sustained swimming, entails a cost in terms of prey-capture ability. Our findings demonstrate a strong connection between organismal shape and performance and provide empirical evidence of the cost of morphological specialization for fishes in the drift-feeding functional guild.

Effects of introduced salmonids on a montane population of Iberian frogs.

Amphibians are declining worldwide because of multiple factors, including human-mediated introduction of fishes into naturally fishless areas. Although several studies have focused on the effect of exotic fishes on native amphibians breeding in ponds or lakes, little is known about their effects on stream-breeding species. We studied the effects of introductions of native brown trout (Salmo trutta) and exotic brook trout (Salvelinus fontinalis) on the stream-breeding, endemic Iberian frog (Rana iberica) in a protected area in central Spain. We assessed occurrence patterns of tadpoles and salmonids and compared habitat use of the three species. We also determined experimentally whether chemical cues from salmonids elicited antipredator behavior in tadpoles. Finally, we assessed the relative influence of tadpole habitat preferences, differences in salmonid species, and invasion geography on tadpole occurrence. Despite widely overlapping habitat preferences, tadpoles and trout did not coexist, with the former restricted to fishless habitats. Tadpoles detected chemical cues from both trout species and reacted by decreasing their activity, although the response toward the native brown trout was stronger The residual distribution of Iberian frogs in Peñalara is better explained by the geography of fish invasions than by the fish species involved. Measures such as fish extirpation from certain areas, aimed at recovering lost habitat and improving connectivity among remaining populations of Iberian frogs, seem critical for the species' long-term survival in central Spain.

Relaciones de pareja y juego patológico: un estudio descriptivo a través de la Escala de Ajuste Diádico (DAS) / Marital relationship and pathological gambling: a descriptive study of the Dyadic Adjustment Scale (DAS)

El juego patológico es un trastorno psicológico que afecta enormemente al entorno familiar del sujeto adicto y en particular a la relación matrimonial. En el presente artículo se exponen los resultados de un estudio que relaciona diferentes variables sociodemográficas con áreas de la relación conyugal evaluadas a través de la Escala de Ajuste Diádico (DAS) de Spanier. Los resultados encontrados muestran que los matrimonios con un cónyuge jugador patológico presentan un ajuste diádico menor que los matrimonios sin conflictos, y que algunas variables como la edad de los sujetos, número de hijos y años de matrimonio parecen influir en la percepción del ajuste diádico que tienen los sujetos. Por último, se exponen algunas ideas acerca de la relevancia de estos resultados para su aplicación terapéutica (AU)