[Predictive value of cerebellar growth and general movements assessments for neurodevelopment of very preterm infants at 18-24 months' corrected age]. / Valor pronostico de las evaluaciones del crecimiento cerebelar y de los movimientos generales para el neurodesarrollo del gran prematuro entre los 18 y 24 meses de edad corregida.

INTRODUCTION: Fidgety movements assessments is very sensitive predicting long-term outcome or cerebral palsy of preterm, disrupted cerebellar growth has been reported in these patients. AIM: To compare the predictive value of cerebellar ultrasound growth and fidgety movements assessments, for neurodevelopment outcome of very preterm at 18-24 month's corrected age (CA). SUBJECTS AND METHODS: Prospective study of 88 infants cohort (<= 32 weeks' gestation), transverse cerebellar diameter was obtained by ultrasound via mastoid fontanel, in a weekly basis, until 40 weeks CA. Fidgety movements were assessed at 3 months CA. Neurodevelopment outcome at 18-24 month's CA was evaluated in 68 using Schedule of Growing Skills II Scale (SGS-II) and Amiel-Tison Neurologic Assessment (ATNA). RESULTS: At term age, cerebellar growth was under 3rd percentile in 11 (10.3%). Fidgety movements were normal in 42 (61.8%) and abnormal or absent in 7 (10.3%). At 18-24 months CA, 54 (79.4%) were normal by the SGS-II and in 6 (8.8%) ATNA classified as cerebral palsy. Cerebellar diameter under 3rd percentile at term was associated with abnormal motor outcome and normal fidgety movements correlated with normal neurodevelopment. CONCLUSION: Ultrasound cerebellar measurements and functional examinations (fidgety movements) have important complementary roles in predicting neurodevelopment of very preterm.

TITLE: Valor pronostico de las evaluaciones del crecimiento cerebelar y de los movimientos generales para el neurodesarrollo del gran prematuro entre los 18 y 24 meses de edad corregida.Introduccion. La evaluacion de los movimientos de ajetreo es sumamente sensible a la hora de predecir el desenlace a largo plazo o la paralisis cerebral del neonato prematuro, un tipo de paciente en el que se ha descrito el crecimiento anomalo del cerebelo. Objetivo. Comparar el valor pronostico de la determinacion ecografica del crecimiento anomalo del cerebelo y el de la evaluacion de los movimientos de ajetreo en el neurodesarrollo de grandes prematuros a los 18-24 meses de edad corregida. Sujetos y metodos. Estudio prospectivo con una cohorte de 88 neonatos (32 semanas o menos de gestacion) en que se analizo el diametro transversal del cerebelo por medio de una ecografia semanal hasta las 40 semanas de edad corregida. Los movimientos de ajetreo se evaluaron a los tres meses de edad corregida. El estado de maduracion neurologica a los 18-24 meses de edad corregida se evaluo en 68 neonatos con la escala de evaluacion de las competencias en el desarrollo infantil (SGS-II) y la escala de evaluacion neurologica de Amiel-Tison (ATNA). Resultados. En la edad a termino, el crecimiento del cerebelo fue inferior al tercer percentil en 11 neonatos (10,3%). Los movimientos de ajetreo eran normales en 42 (61,8%), y anormales o ausentes, en 7 (10,3%). A los 18-24 meses de edad corregida, 54 (79,4%) mostraron resultados normales en la SGS-II y 6 (8,8%) fueron calificados como afectados por paralisis cerebral segun la ATNA. El diametro cerebelar inferior al tercer percentil a termino estuvo asociado con un desenlace motor anomalo y los movimientos de ajetreo normales se correlacionaron con el neurodesarrollo normal. Conclusion. La estimacion del tamaño del cerebelo y las exploraciones funcionales (movimientos de ajetreo) poseen un importante papel complementario en el pronostico del desarrollo nervioso en el gran prematuro.

[A cost-benefit evaluation of prenatal diagnosis performed at a referral center with a population with a genetic or abnormality risk]. / Avaliação do custo/benefício do diagnóstico prénatal efectuado num centro de referencia numa população com risco genético ou malformativo.

Prenatal diagnosis (PND) has assistencial, psychological and economical consequences; it is very important to evaluate cost effectiveness for the population. A prospective study was done (longitudinal and descriptive) on a population referred to Maternidade Dr. Alfredo da Costa, divided into two groups. Group one with PND performed on proper time and second group a PND procedure performed on a adequate time. The general characterization, indications for reference and consequences were evaluated. The conclusions are that the indications for reference were correct and the diagnosis was effective in 17% of patients. Social, economical levels and multiparity were the most important factors affecting adequate PND. However concerning the results, the termination of pregnancy was more performed on the group 1 and more abnormalities were seen on the newborns of group 2.

Molecular basis of alpha-thalassemia in Portugal.

We have estimated the incidence and molecular basis of alpha-thalassemia in a Portuguese population, mostly from the Greater Lisbon area. In a group of 100 consecutive cord blood samples, the gene frequency of the rightward deletion (-alpha 3.7) was 0.035, and the leftward deletion (-alpha 4.2) was 0.015. In this group, we have also found four heterozygotes for the triple alpha-globin gene rearrangement (alpha alpha alpha anti 3.7. gene frequency 0.020). We have characterized the subtypes of -alpha 3.7 and alpha alpha alpha anti 3.7 rearrangements. On the whole, these results give an incidence of 10% for deletional alpha-thalassemia carriers in the studied Portuguese population. In a group of 342 subjects presenting beta-thalassemia, or Hb S trait, beta-thalassemia major sickle cell disease or low red blood cell indices, the -alpha 3.7, -alpha 4.2, -SEA, -MED, (alpha alpha)MM, and alpha alpha alpha anti 3.7 haplotypes were found in different combinations. Only one nondeletional alpha-thalassemia determinant (a 5 nucleotide deletion in the alpha 2-globin gene in the second intervening sequence donor site) was detected, which might suggest a low incidence of these defects in the Portuguese population.

[Incontinentia pigmenti in 2 newborn infants]. / Incontinentia pigmenti chez deux nouveau-nés.

Incontinentia pigmenti (IP) is a genodermatosis, which is of X-linked dominant transmission, uncommonly diagnosed in newborn babies. The skin lesions usually develop in 4 stages: inflammatory, hypertrophic, pigmentary and regressive. The authors report 2 cases of IP in female newborn babies who were previously treated for pyodermatitis.