We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052 + 2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype---phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy. © 2012 SEEN. Published by Elsevier España, S.L. All rights reserved. PALABRAS CLAVEPseudohipoaldosteronismo sistémico tipo 1; Hiperpotasemia; Hiponatremia; Acidosis metabólica; Gen SCNN1A Un caso de pseudohipoaldosteronismo sistémico con una mutación nueva en el gen SCNN1AResumen Se presenta un caso neonatal de pseudohipoaldosteronismo sistémico tipo 1 causado por una nueva mutación en el gen SCNN1A (homocigotos C.1052 2 dupT en el intrón 3) en el que el se evidenció hiperpotasemia potencialmente mortal, hiponatremia y acidosis metabólica. Continúa sin saberse con certeza si hay correlación genotipo-fenotipo, debido a la rareza de la enfermedad. Esta mutación, que no ha sido previamente descrita, se asoció con un fenotipo muy grave por lo que requirió un abordaje terapéutico agresivo.

Appendicitis is the most common cause of acute abdominal pain requiring surgical intervention in children, but it is very rare in infants and neonates. Nonspecific clinical features and low index of suspicion make its diagnosis and management particularly challenging, which may result in high chances of complications such as perforation and peritonitis, thus increasing morbidity and mortality. We present the case of a female late preterm newborn with bloody stools and bilious gastric aspirates on the second day of life. After 24 h of clinical, laboratory and radiological surveillance, which evidenced deterioration in the newborn ' s condition, an exploratory laparoscopy was performed, showing generalized peritonitis and perforated inflammatory appendix. A laparoscopic appendicectomy was performed. Histology confirmed the appendicitis diagnosis. The authors enhance the value of diagnostic laparoscopy and its potential as a therapeutic tool in neonates.

Infections of the central nervous system (CNS) in neonates with very low birth weight (VLBW) may have major clinical consequences due to their immunocompromised status.

Screen-based games and television are increasingly prevalent nowadays and are associated with poor health outcomes. Accordingly, the SARS-COV-2 disease 2019 (COVID-19) pandemic disrupted life for all, with the closure of non-essential businesses and schools. For preschool children, this limited opportunities for movement and social life, disturbed daily schedules and routines. The present study aims to understand and compare the screen time and sleep time on preschool children, conducted at 6 kindergartens, selected for convenience, in two different regions from Portugal (Bragança and Gondomar) before COVID-19 pandemic and during the lockdown related to COVID-19. For data collection, two phases were considered: the first one, before COVID-19 pandemic, the children's parents were interviewed using a questionnaire to evaluate the time spent watching television and playing video games, both during the week and weekend, as well as the number of hours of sleep; the second one, during the lockdown related to COVID-19 pandemic, were used the same questionnaire in an online form. A total of 352 children participated in this study. In the first moment, 230 children, of which 103 girls (mean age of 4.51±0.82 years) and 127 boys (mean age of 4.48±0.81 years), and in the second moment 122 children, of which 65 girls (mean age of 4.80±0.66 years) and 57 boys (mean age of 5.00±0.96 years).There were no significant differences between girls and boys regarding time spent watching TV during the week and during the weekend, time playing video games during the week and during the weekend, and sleep time, within each moment of data collect. When comparing the use of technology by girls and boys between the first moment and the second, there was a significant increase in the time spent watching TV during the week (p=0.000), as well as playing video games during the week (p=0.000) and during the weekend (p=0.000), both for girls and boys. In the number of hours of sleep there were no significant differences between both moments. However, during the first moment, 14.8% of children do not comply the WHO recommendation, and the same occurs on the second moment, with 32.0% of children not complying. Considering the WHO recommendation about screen time of 1 hour/day or less, 82.6% follow the recommendation during the week in the first moment of the study, compering to only 23.8% during lockdown. On weekend, the percentage of children that comply the recommendation of screen time was similar between the first and the second moment (51.3% and 52.5%, respectively). It was already expected that during COVID-19 lockdown, children spend more time on screen activities, namely watching TV and using their computer to assist school classes.In conclusion, our study suggests that preschool children, due to confinement, spent more time in front of the screen (watching TV and playing video games), with a vast majority of children not meeting the maximum recommended sedentary screen time during weekdays.

No abstract