Diagnostic definition of malattia leventinese in a family from Colombia / Definición diagnóstica en una familia con malattia leventinese en Colombia.

The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with acular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.

La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.

Definición diagnóstica en una familia con malattia leventinese en Colombia / Diagnostic definition of malattia leventinese in a family from Colombia

Resumen La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.

Abstract The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with macular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.

Efectividad y seguridad de 2 dispositivos de fototerapia para el manejo humanizado de la ictericia / Effectiveness and safety of two phototherapy devices for the humanised management of neonatal jaundice

INTRODUCCIÓN: La ictericia neonatal es frecuente en los prematuros. El tratamiento oportuno actual con curvas estándar para fototerapia lleva al clínico a separar al bebé de su madre después del nacimiento. Se busca evaluar la efectividad y seguridad de 2 dispositivos innovadores para fototerapia compuestos por mallas de luz LED: una bolsa para dormir y una manta comparadas con fototerapia convencional intrahospitalaria o ambulatoria. MÉTODOS: Se condujeron 2 experimentos clínicos aleatorizados: uno con neonatos >2.000 g en una unidad de recién nacidos y otro con prematuros en un programa de seguimiento ambulatorio. El patrón de oro para la medición de bilirrubinas fue la bilirrubina sérica, y los controles ambulatorios fueron hechos con el Bilicheck(R). Los padres y el personal de salud respondieron una encuesta sobre comodidad con los dispositivos. RESULTADOS: En el estudio correspondiente a la bolsa se realizó regresión lineal para descenso de bilirrubinas en mg/dl/h, controlando por ictericia de aparición temprana (< 36 h) y tipo de dispositivo. No se encontró diferencia significativa entre los dispositivos. Para el estudio en el seguimiento ambulatorio, el descenso de bilirrubina con la manta fue significativamente mayor. En ambos estudios no se encontraron diferencias significativas en temperaturas, duración de fototerapia, readmisiones, mortalidad o efectos secundarios; tampoco en los cuestionarios para padres y equipo médico sobre comodidad con los dispositivos. CONCLUSIONES: Estos 2 pequeños estudios son un «grano de arena» para la humanización del cuidado neonatal, evitando la separación madre-hijo, tanto para el manejo de la hiperbilirrubinemia intrahospitalaria como para la hiperbilirrubinemia de bajo riesgo en el paciente ambulatorio

INTRODUCTION: Neonatal jaundice is common, especially in premature infants. Compliance with treatment protocols and standard serum bilirubin curves forces the clinician to separate the child from the mother after birth for short phototherapy. The objective of this study is to evaluate the effectiveness and safety of two innovative devices for phototherapy including a LED light mesh: one sleeping bag and one blanket compared to conventional hospital or ambulatory phototherapy. METHODS: Two randomised clinical trials were conducted: one with newborns > 2,000 g at birth in the Neonatal Care Unit and the other with premature infants followed-up in an outpatient clinic (PMC). The gold standard for bilirubin measurement was serum bilirubin, and ambulatory controls were performed with the Bilicheck(R). Parents and health personnel completed a questionnaire on comfort and perceptions. Results; In the study using the bag, a linear regression was performed for the decrease in bilirubin in mg/dL/h, controlling by early jaundice (< 36 h) and the device type. The results were similar between the 2 devices. For the blanket trial in the PMC, the decrease in bilirubin levels with the new device was significantly greater with no differences in temperatures, duration of phototherapy, re-admission, mortality, or side effects for both trials. Parents and staff satisfaction with the two devices was identical for the 2 trials. CONCLUSION: These 2 small studies add a 'grain of sand' to humanisation of newborn care, avoiding the mother-and-child separation for both the intra-hospital high-risk hyperbilirubinaemia, as well as for the lower-risk hyperbilirubinaemia in an outpatient clinic

[Effectiveness and safety of two phototherapy devices for the humanised management of neonatal jaundice]. / Efectividad y seguridad de 2 dispositivos de fototerapia para el manejo humanizado de la ictericia.

INTRODUCTION: Neonatal jaundice is common, especially in premature infants. Compliance with treatment protocols and standard serum bilirubin curves forces the clinician to separate the child from the mother after birth for short phototherapy. The objective of this study is to evaluate the effectiveness and safety of two innovative devices for phototherapy including a LED light mesh: one sleeping bag and one blanket compared to conventional hospital or ambulatory phototherapy. METHODS: Two randomised clinical trials were conducted: one with newborns >2,000g at birth in the Neonatal Care Unit and the other with premature infants followed-up in an outpatient clinic (PMC). The gold standard for bilirubin measurement was serum bilirubin, and ambulatory controls were performed with the Bilicheck®. Parents and health personnel completed a questionnaire on comfort and perceptions. RESULTS: In the study using the bag, a linear regression was performed for the decrease in bilirubin in mg/dL/h, controlling by early jaundice (<36h) and the device type. The results were similar between the 2 devices. For the blanket trial in the PMC, the decrease in bilirubin levels with the new device was significantly greater with no differences in temperatures, duration of phototherapy, re-admission, mortality, or side effects for both trials. Parents and staff satisfaction with the two devices was identical for the 2 trials. CONCLUSION: These 2 small studies add a 'grain of sand' to humanisation of newborn care, avoiding the mother-and-child separation for both the intra-hospital high-risk hyperbilirubinaemia, as well as for the lower-risk hyperbilirubinaemia in an outpatient clinic.

La enfermedad renal crónica en los niños y su calidad de vida; un reto para los trabajadores de salud / Chronic kidney disease in children and their quality of life; a challenge for health workers

OBJETIVO: identificar la calidad de vida de los niños de 8 a 18 años, con diagnóstico de enfermedad renal crónica, en una institución de salud de la ciudad de Bogotá. MATERIALES y MÉTODO: se llevó a cabo un estudio descriptivo de corte transversal con una población de estudio de 62 niños con diagnóstico de enfermedad renal crónica que asistieron a la consulta de nefrología pediátrica utilizando el instrumento KIDSCREEN 27. RESULTADOS: se analizaron cinco dimensiones, donde cada una tuvo un puntaje ponderado mayor a 70, que se relaciona con una buena calidad de vida; la dimensión con menor puntaje, la de actividad física, tuvo un puntaje de 70,1, seguida por la de apoyo social y amigos. CONCLUSIONES: En el grupo de estudio se encontró alterada la calidad de en la dimensión de actividad física y apoyo social y amigos; se debe tener en cuenta que, el que los niños no se sientan enfermos puede generar también riesgo para su adherencia al tratamiento. Se necesita diseñar programas que permitan realizar seguimiento y apoyo a los niños, niñas y adolescentes, pero estos deben ser novedosos y atractivos. Es indispensable que el personal de salud se prepare para poder respuesta a las demandas de los niños con enfermedades crónicas con el fin de contribuir a que ellos y sus familias tengan una buena calidad de vida.

OBJECTIVE: to identify the quality of life of children from 8 to 18 years old, diagnosed with chronic kidney disease, in a health institution in the city of Bogotá. MATERIALS AND METHOD: a descriptive cross-sectional study was conducted with a study population of 62 children diagnosed with chronic kidney disease who attended the pediatric nephrology clinic using the KIDSCREEN 27 instrument. RESULTS: five dimensions were analyzed, where each had a weighted score greater than 70, which is related to a good quality of life; the dimension with the lowest score, that of physical activity, had a score of 70.1, followed by that of social support and friends. CONCLUSIONS: chronic kidney disease can alter the quality of life, however in the study group the quality of life was not altered but its score in physical activity and social support and friends evidences the need to improve these aspects; it should be borne in mind that the fact that children do not feel sick can also generate risk for their adherence to treatment. Programs need to be designed to monitor and support children and adolescents, but these must be novel and attractive. It is essential that health personnel prepare to be able to respond to the demands of children with chronic diseases in order to contribute to ensuring that they and their families have a good quality of life

Calidad de vida en los niños que viven con enfermedad renal crónica / Quality of Life in Children Living with Chronic Kidney Disease / Qualidade de vida em crianças vivendo com doença renal crônica

Introducción: la enfermedad renal en los niños causa diferentes cambios que pueden alterar su calidad de vida; por esta razón, es importante que el profesional de salud busque estrategias que contribuyan a disminuir las secuelas y mejorar la calidad de vida del niño. Objetivo: caracterizar la calidad de vida de los niños de 8 a 18 años, con diagnóstico de enfermedad renal crónica, según el instrumento KIDSCREEN-27 de una institución de salud de la ciudad de Bogotá (Colombia). Método: estudio descriptivo de corte transversal con una población de estudio de 62 niños con diagnóstico de enfermedad renal crónica con edades entre 8 y 18 años que asistieron a la consulta de nefrología pediátrica. Resultados: se analizaron cinco dimensiones, donde cada una tuvo un puntaje ponderado mayor a 70, que se relaciona con una buena calidad de vida; la dimensión con menor puntaje, la de actividad física, tuvo un puntaje de 70,1, y la dimensión de estado de ánimo y sentimientos obtuvo el mayor puntaje, 80,8. Conclusiones: la enfermedad renal crónica puede alterar la calidad de vida, sobre todo en la dimensión de actividad física y entorno escolar. Es primordial que se planteen programas que tengan en cuenta las cinco dimensiones, especialmente las que obtuvieron menor puntaje, con el fin de mejorar la calidad de vida de los niños con esta enfermedad.

Introduction: In children the kidney disease causes different changes that may affect their quality of life. Therefore, it is important for a health professional to find a strategy contributing to reduce the sequelae and improve their quality of life. Objective: To characterize the quality of life in children with ages of 8-18 years who were diagnosed with chronic kidney disease, based on the instrument KIDSCREEN-27 prepared by health center in Bogotá (Colombia). Method: This is a cross-sectional descriptive study with a study population of 62 children diagnosed with chronic kidney disease, with ages from 8 to 18 years, who attended to pediatric nephrology treatment. Results: Five dimensions were analyzed, each with a weighted score above 70, which indicates a good quality of life. The dimensions with the lowest score [70.1] is the physical activity. The highest score [80.8] was found in the dimension of mood and feelings. Conclusions: The chronic kidney disease may alter the quality of life, mostly regarding the dimension of physical activity and the school environment. It is crucial to set out programs that consider the five dimensions, especially those with the lowest scores, in order to improve the quality of life among the ill children.

Introdução: A doença renal nas crianças causa diferentes alterações que podem mudar sua qualidade de vida; por tal razão, é importante que o profissional de saúde procure estratégias que contribuam para reduzir sequelas e melhorar a qualidade de vida da criança. Objetivo: Caracterizar a qualidade de vida das crianças de 8 a 18 anos com diagnóstico de doença renal crônica, segundo o instrumento KIDSCREEN-27 de uma instituição de saúde da cidade de Bogotá (Colômbia). Método: Estudo descritivo transversal com população de estudo de 62 crianças com diagnóstico de doença renal crônica, entre 8 e 18 anos de idade, que atendidas no ambulatório de nefrologia pediátrica. Resultados: Foram analisadas cinco dimensões, nas quais cada uma obteve pontuação ponderada maior que 70, relacionada à boa qualidade de vida; a dimensão com menor pontuação, a de atividade física, obteve pontuação de 70,1, e a dimensão de humor e sentimentos obteve a maior pontuação, 80,8. Conclusões: A doença renal crônica pode alterar a qualidade de vida, especialmente na dimensão de atividade física e entorno escolar. É essencial projetar programas que levem em conta as cinco dimensões, especialmente as que obtiveram pontuações mais baixas a fim de melhorar a qualidade de vida das crianças com esta doença.