Heterogeneidad clínica y genética del hiperinsulinismo congénito / Clinical and genetic heterogeneity of congenital hyperinsulinism

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Síndrome de Turner: análisis de 42 casos / Turner syndrome: Study of 42 cases

Antecedentes y objetivo: El síndrome de Turner (ST) se asocia con talla baja, disgenesia gonadal y monosomía parcial o total del cromosoma X. Pacientes y métodos: Se realizó un estudio de cohortes histórico de las pacientes con ST≤18 años seguidas en los hospitales públicos de Castilla y León. Resultados: Se registraron 42 pacientes (diagnóstico prenatal 11,9%, neonatal 14,3%) con una edad media actual de 11,9±4,2 años. La talla baja fue el motivo de consulta en el 87,1%. El 40,5% presentaban monosomía total del cromosoma X. La enfermedad asociada más frecuente fue la oftalmológica (50%), con problemas cardiacos en el 23,8%. El 93% reciben tratamiento congrowth hormone (GH, «hormona de crecimiento»), con una edad media al inicio de 7,43±3,4 años y una DE media de talla de −2,84±1,08. Solamente 10 pacientes han alcanzado talla final (talla media 151,47±6,09cm). La edad cronológica media de inducción puberal fue 13,2 años±0,94 años (edad ósea 12,47±1,17). Conclusiones: Uno de los datos clave para el diagnóstico fue la talla baja acompañada en algunos casos de otros hallazgos, siendo el tratamiento con GH efectivo (AU)

Background and objective: Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. Patients and methods: A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Results: Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was −2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years) (AU)

[Turner syndrome: Study of 42 cases]. / Síndrome de Turner: análisis de 42 casos.

BACKGROUND AND OBJECTIVE: Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. PATIENTS AND METHODS: A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. RESULTS: Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). CONCLUSIONS: Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment.

Maternal assessment of recommendations on the newborn infant care upon hospital discharge.

INTRODUCTION: It is common for pediatricians to provide parents with information on how to look after their newborn baby at the time of discharge from the hospital. The objectives of this study are to determine the level of satisfaction regarding such information, to be aware of what additional information parents would have liked to receive, and to establish which factors may impact any additional information request. POPULATION AND METHODS: Descriptive study evaluating the opinion of women at 5-15 days post- partum regarding such information. RESULTS: A hundred and seventy-six surveys were collected. Of these, 68.8% respondents had attended childbirth classes. Sixty-one point four percent referred to have looked for advice on the newborn infant care, mostly on the Internet and in books. Seventy-four point four percent considered that the information provided sufficed. Most commonly, information was requested on breastfeeding (33.3%), bottle feeding (20.0%), and umbilical cord care (11.1%). Mothers who requested more information attended childbirth classes more frequently (significant) and searched for information during pregnancy (not significant). In addition, this group significantly assigned a lower score to the opportunity to ask questions and the level of trust on the pediatrician. CONCLUSIONS: Maternal satisfaction regarding the information provided is adequate; and most mothers do not request additional information. The topic on which they most frequently request additional information is breastfeeding. The decision to request information does not depend on maternal age, maternal education, employment condition, or having other children. Likewise, mothers have questions that are not satisfactorily answered during childbirth classes.

Valoración de las madres acerca de las recomendaciones para el cuidado del recién nacido al momento del alta hospitalaria / Maternal assessment of recommendations on the newborn infant care upon hospital discharge

Introducción. Es habitual que el pediatra ofrezca a los padres información sobre cuidados del neonato al momento del alta hospitalaria. Los objetivos del estudio son conocer la satisfacción respecto a dicha información, qué otras informaciones les hubiese gustado recibir y determinar qué factores pueden influir en esa demanda. Población y métodos. Estudio descriptivo que evalúa la opinión de las puérperas a los 5-15 días del parto, en cuanto a dicha información. Resultados. Se recogieron 176 encuestas. El 68,8% asistió a clases de preparación para el parto. El 61,4% refirió haber buscado consejos sobre cuidados del recién nacido, mayoritariamente en internet y libros. El 74,4% consideró suficiente la información recibida. Los aspectos de información más demandados fueron lactancia materna (33,3%), artificial (20,0%) y cuidados del cordón umbilical (11,1%). Las madres que demandaron más información acudieron con más frecuencia a clases de preparación para el parto (significativo) y buscaron información durante la gestación (no significativo). Asimismo, este grupo otorgó significativamente peores puntuaciones a la facilidad para plantear dudas y el grado de confianza en el pediatra. Conclusiones. La satisfacción de las madres respecto a la información ofrecida es buena; la mayoría no demanda más información. El aspecto sobre el que con más frecuencia demandan más información es la lactancia. La demanda de información es independiente de la edad materna, los estudios maternos, la situación laboral o la existencia de hijos previos. Asimismo, las dudas que les surgen a las madres no se ven satisfechas únicamente por la asistencia a clases de preparación para el parto.

Introduction.It is common for pediatricians to provide parents with information on how to look after their newborn baby at the time of discharge from the hospital. The objectives of this study are to determine the level of satisfaction regarding such information, to be aware of what additional information parents would have liked to receive, and to establish which factors may impact any additional information request. Population and Methods.Descriptive study evaluating the opinion of women at 5-15 days post- partum regarding such information. Results.A hundred and seventy-six surveys were collected. Of these, 68.8% respondents had attended childbirth classes. Sixty-one point four percent referred to have looked for advice on the newborn infant care, mostly on the Internet and in books. Seventy-four point four percent considered that the information provided sufficed. Most commonly, information was requested on breastfeeding (33.3%), bottle feeding (20.0%), and umbilical cord care (11.1%). Mothers who requested more information attended childbirth classes more frequently (significant) and searched for information during pregnancy (not significant). In addition, this group significantly assigned a lower score to the opportunity to ask questions and the level of trust on the pediatrician. Conclusions.Maternal satisfaction regarding the information provided is adequate; and most mothers do not request additional information. The topic on which they most frequently request additional information is breastfeeding. The decision to request information does not depend on maternal age, maternal education, employment condition, or having other children. Likewise, mothers have questions that are not satisfactorily answered during childbirth classes.

Valoración de las madres acerca de las recomendaciones para el cuidado del recién nacido al momento del alta hospitalaria / Maternal assessment of recommendations on the newborn infant care upon hospital discharge

Introducción. Es habitual que el pediatra ofrezca a los padres información sobre cuidados del neonato al momento del alta hospitalaria. Los objetivos del estudio son conocer la satisfacción respecto a dicha información, qué otras informaciones les hubiese gustado recibir y determinar qué factores pueden influir en esa demanda. Población y métodos. Estudio descriptivo que evalúa la opinión de las puérperas a los 5-15 días del parto, en cuanto a dicha información. Resultados. Se recogieron 176 encuestas. El 68,8% asistió a clases de preparación para el parto. El 61,4% refirió haber buscado consejos sobre cuidados del recién nacido, mayoritariamente en internet y libros. El 74,4% consideró suficiente la información recibida. Los aspectos de información más demandados fueron lactancia materna (33,3%), artificial (20,0%) y cuidados del cordón umbilical (11,1%). Las madres que demandaron más información acudieron con más frecuencia a clases de preparación para el parto (significativo) y buscaron información durante la gestación (no significativo). Asimismo, este grupo otorgó significativamente peores puntuaciones a la facilidad para plantear dudas y el grado de confianza en el pediatra. Conclusiones. La satisfacción de las madres respecto a la información ofrecida es buena; la mayoría no demanda más información. El aspecto sobre el que con más frecuencia demandan más información es la lactancia. La demanda de información es independiente de la edad materna, los estudios maternos, la situación laboral o la existencia de hijos previos. Asimismo, las dudas que les surgen a las madres no se ven satisfechas únicamente por la asistencia a clases de preparación para el parto.(AU)

Introduction.It is common for pediatricians to provide parents with information on how to look after their newborn baby at the time of discharge from the hospital. The objectives of this study are to determine the level of satisfaction regarding such information, to be aware of what additional information parents would have liked to receive, and to establish which factors may impact any additional information request. Population and Methods.Descriptive study evaluating the opinion of women at 5-15 days post- partum regarding such information. Results.A hundred and seventy-six surveys were collected. Of these, 68.8% respondents had attended childbirth classes. Sixty-one point four percent referred to have looked for advice on the newborn infant care, mostly on the Internet and in books. Seventy-four point four percent considered that the information provided sufficed. Most commonly, information was requested on breastfeeding (33.3%), bottle feeding (20.0%), and umbilical cord care (11.1%). Mothers who requested more information attended childbirth classes more frequently (significant) and searched for information during pregnancy (not significant). In addition, this group significantly assigned a lower score to the opportunity to ask questions and the level of trust on the pediatrician. Conclusions.Maternal satisfaction regarding the information provided is adequate; and most mothers do not request additional information. The topic on which they most frequently request additional information is breastfeeding. The decision to request information does not depend on maternal age, maternal education, employment condition, or having other children. Likewise, mothers have questions that are not satisfactorily answered during childbirth classes.(AU)

Valoración de las madres acerca de las recomendaciones para el cuidado del recién nacido al momento del alta hospitalaria / Maternal assessment of recommendations on the newborn infant care upon hospital discharge

Introducción. Es habitual que el pediatra ofrezca a los padres información sobre cuidados del neonato al momento del alta hospitalaria. Los objetivos del estudio son conocer la satisfacción respecto a dicha información, qué otras informaciones les hubiese gustado recibir y determinar qué factores pueden influir en esa demanda. Población y métodos. Estudio descriptivo que evalúa la opinión de las puérperas a los 5-15 días del parto, en cuanto a dicha información. Resultados. Se recogieron 176 encuestas. El 68,8% asistió a clases de preparación para el parto. El 61,4% refirió haber buscado consejos sobre cuidados del recién nacido, mayoritariamente en internet y libros. El 74,4% consideró suficiente la información recibida. Los aspectos de información más demandados fueron lactancia materna (33,3%), artificial (20,0%) y cuidados del cordón umbilical (11,1%). Las madres que demandaron más información acudieron con más frecuencia a clases de preparación para el parto (significativo) y buscaron información durante la gestación (no significativo). Asimismo, este grupo otorgó significativamente peores puntuaciones a la facilidad para plantear dudas y el grado de confianza en el pediatra. Conclusiones. La satisfacción de las madres respecto a la información ofrecida es buena; la mayoría no demanda más información. El aspecto sobre el que con más frecuencia demandan más información es la lactancia. La demanda de información es independiente de la edad materna, los estudios maternos, la situación laboral o la existencia de hijos previos. Asimismo, las dudas que les surgen a las madres no se ven satisfechas únicamente por la asistencia a clases de preparación para el parto.(AU)

Introduction.It is common for pediatricians to provide parents with information on how to look after their newborn baby at the time of discharge from the hospital. The objectives of this study are to determine the level of satisfaction regarding such information, to be aware of what additional information parents would have liked to receive, and to establish which factors may impact any additional information request. Population and Methods.Descriptive study evaluating the opinion of women at 5-15 days post- partum regarding such information. Results.A hundred and seventy-six surveys were collected. Of these, 68.8% respondents had attended childbirth classes. Sixty-one point four percent referred to have looked for advice on the newborn infant care, mostly on the Internet and in books. Seventy-four point four percent considered that the information provided sufficed. Most commonly, information was requested on breastfeeding (33.3%), bottle feeding (20.0%), and umbilical cord care (11.1%). Mothers who requested more information attended childbirth classes more frequently (significant) and searched for information during pregnancy (not significant). In addition, this group significantly assigned a lower score to the opportunity to ask questions and the level of trust on the pediatrician. Conclusions.Maternal satisfaction regarding the information provided is adequate; and most mothers do not request additional information. The topic on which they most frequently request additional information is breastfeeding. The decision to request information does not depend on maternal age, maternal education, employment condition, or having other children. Likewise, mothers have questions that are not satisfactorily answered during childbirth classes.(AU)

Maternal assessment of recommendations on the newborn infant care upon hospital discharge. / Maternal assessment of recommendations on the newborn infant care upon hospital discharge.

INTRODUCTION: It is common for pediatricians to provide parents with information on how to look after their newborn baby at the time of discharge from the hospital. The objectives of this study are to determine the level of satisfaction regarding such information, to be aware of what additional information parents would have liked to receive, and to establish which factors may impact any additional information request. POPULATION AND METHODS: Descriptive study evaluating the opinion of women at 5-15 days post- partum regarding such information. RESULTS: A hundred and seventy-six surveys were collected. Of these, 68.8

respondents had attended childbirth classes. Sixty-one point four percent referred to have looked for advice on the newborn infant care, mostly on the Internet and in books. Seventy-four point four percent considered that the information provided sufficed. Most commonly, information was requested on breastfeeding (33.3

), bottle feeding (20.0

), and umbilical cord care (11.1

). Mothers who requested more information attended childbirth classes more frequently (significant) and searched for information during pregnancy (not significant). In addition, this group significantly assigned a lower score to the opportunity to ask questions and the level of trust on the pediatrician. CONCLUSIONS: Maternal satisfaction regarding the information provided is adequate; and most mothers do not request additional information. The topic on which they most frequently request additional information is breastfeeding. The decision to request information does not depend on maternal age, maternal education, employment condition, or having other children. Likewise, mothers have questions that are not satisfactorily answered during childbirth classes.