Factores de riesgo para el desarrollo de hiponatremia precoz en el prematuro. Revisión de nuestra práctica en administración de sodio en los primeros días de vida / Risk factors for the development of early hyponatraemia in the premature infant. A review of the practice of giving sodium in the first days of life

INTRODUCCIÓN: Estudio retrospectivo en la unidad de cuidados intensivos neonatales de un hospital de tercer nivel sobre la incidencia de hiponatremia precoz (primeras 48 horas de vida) en prematuros. Buscamos factores de riesgo y de protección para esa alteración, como punto de partida para un cambio en la actuación médica al prescribir fluidos intravenosos. MATERIAL Y MÉTODOS: Muestra de 256 prematuros (edad gestacional: 235-366) ingresados en la unidad de cuidados intensivos neonatales de nuestro hospital, entre enero de 2016 y junio de 2018. Se determinó qué pacientes recibieron aportes intravenosos de sodio en distintos intervalos de las primeras 48 horas de vida y cuántos padecieron hiponatremia de cualquier tipo (< 135 mmol/l) y moderada-grave (< 130 mmol/l). Se estudió la relación entre hiponatremia precoz y peso/edad gestacional, administración de corticoides prenatales, enfermedad respiratoria, sepsis precoz y asfixia perinatal. RESULTADOS: Padecieron hiponatremia 81 pacientes, 31,64% del total (hasta un 50% en < 30 semanas de edad gestacional), siendo moderada-grave (< 130 mmol/l) en un 17,3% de los casos. El periodo de tiempo con más casos de hiponatremia fue el de las primeras 12 horas de vida (22,64%). Demostraron ser factores de riesgo el peso (p = 0,034), la edad gestacional (p < 0,001) y el padecimiento de enfermedad respiratoria (p < 0,001) y, en el análisis multivariable, este último se mostró relacionado de forma independiente con la hiponatremia precoz (p < 0,01; OR = 5,24; IC 95%: 2,79-9,84). La administración de betametasona prenatal no demostró proteger. CONCLUSIÓN: Según nuestros resultados creemos conveniente aportar sodio en los fluidos intravenosos prescritos los primeros días de vida, particularmente en prematuros de menos edad gestacional y en afectos de enfermedad respiratoria

INTRODUCTION: A retrospective study was conducted in the Neonatal Intensive Care Unit of a tertiary hospital to determine the incidence of early hyponatraemia (first 48hours of life) in preterm infants. Risk and protection factors in this condition were also examined as a starting point for a change in the medical action when prescribing intravenous fluids. MATERIAL AND METHODS: The study included a sample of 256 premature babies (gestational age: 235-366) admitted to the Neonatal Intensive Care Unit of a tertiary hospital between January 2016 and June 2018. The number of patients receiving intravenous sodium in different intervals during the first 48hours of life was determined, as well as the number of those with hyponatraemia of any type (< 135 mmol/l), and moderate-severe (< 130 mmol / l). An analysis was made of the relationship between early hyponatraemia and weight / gestational age, antenatal steroids exposure, respiratory pathology, early sepsis, and perinatal asphyxia. RESULTS: Hyponatraemia occurred in 81 patients, 31.64% of the total (up to 50% in < 30 weeks of gestational age), and was moderate-severe (< 130 mmol / l) in 17.3% of the cases. The period of time with the most cases of hyponatraemia was in the first 12hours of life (22.64%). Weight (P=.034), gestational age (P < .001) and respiratory disease (P < .001) were found to be risk factors and, in a multivariate analysis, the latter was independently related to early hyponatremia (P < .01, OR = 5.24, 95% CI: 2.79-9.84). Antenatal betamethasone exposure did not show to be a protection factor. CONCLUSION: According to the results of this study, it is considered an advantage to provide sodium in the intravenous fluids prescribed during the first days of life, particularly in preterm infants of lower gestational age and with respiratory disease involvement

[Risk factors for the development of early hyponatraemia in the premature infant. A review of the practice of giving sodium in the first days of life]. / Factores de riesgo para el desarrollo de hiponatremia precoz en el prematuro. Revisión de nuestra práctica en administración de sodio en los primeros días de vida.

INTRODUCTION: A retrospective study was conducted in the Neonatal Intensive Care Unit of a tertiary hospital to determine the incidence of early hyponatraemia (first 48hours of life) in preterm infants. Risk and protection factors in this condition were also examined as a starting point for a change in the medical action when prescribing intravenous fluids. MATERIAL AND METHODS: The study included a sample of 256 premature babies (gestational age: 235-366) admitted to the Neonatal Intensive Care Unit of a tertiary hospital between January 2016 and June 2018. The number of patients receiving intravenous sodium in different intervals during the first 48hours of life was determined, as well as the number of those with hyponatraemia of any type (<135mmol / l), and moderate-severe (<130mmol / l). An analysis was made of the relationship between early hyponatraemia and weight / gestational age, antenatal steroids exposure, respiratory pathology, early sepsis, and perinatal asphyxia. RESULTS: Hyponatraemia occurred in 81 patients, 31.64% of the total (up to 50% in<30 weeks of gestational age), and was moderate-severe (<130mmol / l) in 17.3% of the cases. The period of time with the most cases of hyponatraemia was in the first 12hours of life (22.64%). Weight (P=.034), gestational age (P<.001) and respiratory disease (P<.001) were found to be risk factors and, in a multivariate analysis, the latter was independently related to early hyponatremia (P<.01, OR=5.24, 95% CI: 2.79-9.84). Antenatal betamethasone exposure did not show to be a protection factor. CONCLUSION: According to the results of this study, it is considered an advantage to provide sodium in the intravenous fluids prescribed during the first days of life, particularly in preterm infants of lower gestational age and with respiratory disease involvement.

Variantes que mantienen el marco de lectura en el dominio Rod 1 proximal del gen FLNA se asocian con un predominio del fenotipo valvula / In-frame variants in FLNA proximal Rod 1 domain associate with a predominant cardiac valvular phenotype

Introducción y objetivos: La displasia valvular cardiaca ligada al cromosoma X es una cardiopatía congénita rara específica del sexo masculino y caracterizada principalmente por una degeneración mixomatosa de las válvulas auriculoventriculares con consecuencias hemodinámicas variables. Se debe a defectos genéticos en la filamina A (codificada por FLNA), una proteína de unión a actina de expresión ubicua que regula la organización del citoesqueleto. La pérdida de función de la filamina A también se ha asociado con manifestaciones neurológicas y del tejido conectivo a menudo simultáneas, y aparentemente las mutaciones en la primera mitad del dominio Rod 1 expresan el fenotipo cardiaco completo. En esta familia de nueva descripción, se ha contribuido a las correlaciones genotipo-fenotipo previas con un enfoque multidisciplinario. Métodos: La evaluación cardiológica, dismorfológica y genética de los miembros disponibles se complementó con estudios de la transcripción y de la inactivación del cromosoma X. Resultados: La nueva mutación de FLNA c.1066-3C>G cosegregaba con un fenotipo cardiaco aparentemente aislado y expresado en los varones, sin que hubiera un sesgo en el patrón de inactivación del cromosoma X en las mujeres portadoras. Esta variante resultó en una deleción dentro del marco de lectura de 8 residuos de aminoácidos cercanos a la región N-terminal de la proteína. Conclusiones: La pérdida de función parcial y no sometida a impronta del dominio Rod 1 proximal de la filamina A parece ser el mecanismo patogénico de la displasia valvular cardiaca, expresada en algunos casos con manifestaciones extracardiacas

Introduction and objectives: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype. We contribute to previous genotype-phenotype correlations with a multidisciplinary approach in a newly-described family. Methods: Cardiologic, dysmorphologic, and genetic evaluation of available members were complemented with transcriptional and X-chromosome inactivation studies. Results: A novel FLNA mutation c.1066-3C>G cosegregated with a male-expressed, apparently isolated, cardiac phenotype with no skewed X-inactivation pattern in female carriers. This variant was shown to result in an in-frame deletion of 8 amino acid residues near the N-terminal region of the protein. Conclusions: A nonimprinted, partial loss of function of filamin A proximal Rod 1 domain seems to be the pathogenetic mechanism of cardiac valvular dysplasia, with some cases occasionally expressing associated extracardiac manifestations

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype. We contribute to previous genotype-phenotype correlations with a multidisciplinary approach in a newly-described family. METHODS: Cardiologic, dysmorphologic, and genetic evaluation of available members were complemented with transcriptional and X-chromosome inactivation studies. RESULTS: A novel FLNA mutation c.1066-3C>G cosegregated with a male-expressed, apparently isolated, cardiac phenotype with no skewed X-inactivation pattern in female carriers. This variant was shown to result in an in-frame deletion of 8 amino acid residues near the N-terminal region of the protein. CONCLUSIONS: A nonimprinted, partial loss of function of filamin A proximal Rod 1 domain seems to be the pathogenetic mechanism of cardiac valvular dysplasia, with some cases occasionally expressing associated extracardiac manifestations.

Prótesis de yugular bovina con stent (Melody) en posición mitral. ¿Posible alternativa a la prótesis mecánica en población pediátrica? / Stented bovine jugular vein graft (Melody Valve) in mitral position. could be an alternative for mechanical valve replacement in the pediatric population?

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