Influencia de la hipotiroxinemia materna durante la gestación sobre el desarrollo psicomotor / Influence of maternal hypothyroxinaemia during pregnancy on psychomotor development

Introducción: La función tiroidea materna durante los primeros meses de embarazo desempeña un papel determinante en el desarrollo del cerebro fetal, porque no existe producción de hormona tiroidea fetal hasta la semana 20. Material y métodos: Durante el año 2002 se seleccionó una muestra de 147 mujeres embarazadas en la semana 37 de gestación. Para valorar la función tiroidea de estas gestantes se determinaron las concentraciones séricas de T4 libre y de hormona tiroestimulante (TSH). Posteriormente, se evaluó el desarrollo psicomotor de los hijos de dichas mujeres mediante las escalas McCarthy. Resultados: Se obtuvo una mediana de T4 libre de 9,37 pmol/l, y más de la mitad de las gestantes de la muestra presentaron valores por debajo del umbral de hipotiroxinemia. Los hijos de madres con concentraciones de T4 por debajo del percentil 10 presentaban una puntuación en el índice general cognitivo significativamente más baja que la de los hijos cuyas madres tenían concentraciones séricas de T4 libre normales. Existe una correlación positiva entre el valor de T4 libre materna y el índice general cognitivo (r=0,43; p < 0,01). Conclusiones: Las concentraciones de T4 libre materna no sólo son importantes durante los primeros meses de gestación para asegurar un desarrollo adecuado del cerebro fetal, sino durante todo el embarazo (AU)

Introduction: The maternal thyroid function during early pregnancy plays a fundamental role in foetal brain development as synthesis of thyroid hormone does not begin until the 20th week of gestation. Material and methods: Throughout the year 2002, 147 women in their 37th week of pregnancy were enrolled for the study. To evaluate their thyroid function, the serum concentrations of free T4 and of TSH were determined. After birth, the psychomotor development of their children was evaluated with the Mc-Carthy scales. Results: The median value of free T4 was 9.37 pmol/l, being the data obtained from more than half of the sampled women below the hypothyroxinaemia threshold. Children born from mothers with T4 levels below percentile 10 showed a significantly lower score on the general cognitive index than those whose mothers had normal free T4 serum concentrations. A positive correlation was found between the values of maternal free T4 and the general cognitive index (r=0.43; p < 0.01). Conclusions: The concentrations of maternal free T4 are important, not only during the first months of pregnancy, but all along the process to ensure adequate development of the foetal brain (AU)

[Influence of maternal hypothyroxinaemia during pregnancy on psychomotor development]. / Influencia de la hipotiroxinemia materna durante la gestación sobre el desarrollo psicomotor.

INTRODUCTION: The maternal thyroid function during early pregnancy plays a fundamental role in foetal brain development as synthesis of thyroid hormone does not begin until the 20th week of gestation. MATERIAL AND METHODS: Throughout the year 2002, 147 women in their 37th week of pregnancy were enrolled for the study. To evaluate their thyroid function, the serum concentrations of free T4 and of TSH were determined. After birth, the psychomotor development of their children was evaluated with the Mc-Carthy scales. RESULTS: The median value of free T4 was 9.37 pmol/l, being the data obtained from more than half of the sampled women below the hypothyroxinaemia threshold. Children born from mothers with T4 levels below percentile 10 showed a significantly lower score on the general cognitive index than those whose mothers had normal free T4 serum concentrations. A positive correlation was found between the values of maternal free T4 and the general cognitive index (r=0.43; p<0.01). CONCLUSIONS: The concentrations of maternal free T4 are important, not only during the first months of pregnancy, but all along the process to ensure adequate development of the foetal brain.

Detección precoz de la hipoacusia en el recién nacido / Early detection of hypoacusia in neonates

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[Neonatal respiratory failure associated with mutation in the surfactant protein C gene]. / Insuficiencia respiratoria neonatal asociada a mutación en el gen de la proteína C del surfactante.

Respiratory insufficiency in a term infant during the first weeks of life is unusual. Possible causes include interstitial or diffuse lung disease, which are a heterogeneous group of mostly idiopathic disorders, characterized by diffuse infiltrates, restrictive functional defect, and disordered gas exchange. A form of interstitial lung disease that can affect infants, children or young adults is that associated with congenital surfactant protein B or C deficiency, in which the inflammatory process leading to interstitial fibrosis is preceded by the accumulation of proteinaceous material in the alveolar space. We assessed the role of potential abnormalities in the surfactant proteins B and C in a Spanish family in which two infants showed progressive neonatal respiratory failure associated with radiological and pathological alterations compatible with interstitial lung disease. The father had a history of respiratory disease since childhood. The two affected children in this family had abnormal expression of surfactant C precursor protein, with markedly decreased levels of the mature protein. Moreover, a previously unreported mutation in the gene encoding surfactant protein C, which was found in this family, is described.

Insuficiencia respiratoria neonatal asociada a mutación en el gen de la proteína C del surfactante / Neonatal respiratory failure associated with mutation in the surfactant protein C gene

La insuficiencia respiratoria en el recién nacido a término durante las primeras semanas de vida extrauterina es una situación poco frecuente. Entre sus causas se incluyen las enfermedades difusas del intersticio pulmonar, un grupo heterogéneo de enfermedades, la mayoría idiopáticas, caracterizadas por infiltrados difusos, alteraciones funcionales de tipo restrictivo y afectación del intercambio gaseoso. Una forma de enfermedad pulmonar intersticial que puede afectar a lactantes, niños o adultos jóvenes es la que se asocia al déficit congénito de proteínas B o C del surfactante pulmonar. En estos casos los procesos inflamatorios que evolucionan hacia la fibrosis pulmonar están precedidos por la acumulación de material proteináceo en el alvéolo. Se indagó la presencia de mutaciones en los genes de las proteínas B y C del surfactante en una familia española en la cual dos lactantes presentaron insuficiencia respiratoria progresiva desde el nacimiento, con alteraciones radiológicas y anatomopatológicas compatibles con enfermedad del intersticio pulmonar, y el padre refería historia de problemas respiratorios desde la infancia. Se encontró que los dos hermanos de esta familia afectados por la enfermedad presentaban una expresión anómala del precursor de la proteína C del surfactante y concentraciones muy bajas de proteína madura. Se describe además una mutación nueva en el gen que codifica la proteína C del surfactante y que cosegrega con la enfermedad en esta familia

Respiratory insufficiency in a term infant during the first weeks of life is unusual. Possible causes include interstitial or diffuse lung disease, which are a heterogeneous group of mostly idiopathic disorders, characterized by diffuse infiltrates, restrictive functional defect, and disordered gas exchange. A form of interstitial lung disease that can affect infants, children or young adults is that associated with congenital surfactant protein B or C deficiency, in which the inflammatory process leading to interstitial fibrosis is preceded by the accumulation of proteinaceous material in the alveolar space. We assessed the role of potential abnormalities in the surfactant proteins B and C in a Spanish family in which two infants showed progressive neonatal respiratory failure associated with radiological and pathological alterations compatible with interstitial lung disease. The father had a history of respiratory disease since childhood. The two affected children in this family had abnormal expression of surfactant C precursor protein, with markedly decreased levels of the mature protein. Moreover, a previously unreported mutation in the gene encoding surfactant protein C, which was found in this family, is described

[Thrombosis of the pulmonary artery associated with maternal deficiency of antithrombin III]. / Trombosis de la arteria pulmonar asociada a déficit materno de antitrombina III.

Authors report a case of newborn with thrombosis of the pulmonary artery, probably caused by a maternal deficit of antithrombin III. Deficit of antithrombin III (AT III) as the possible cause of thrombosis is discussed.