Infezioni invasive da Candida in gravi prematuri

Interstitial deletion of the long arm of chromosome 1 (1q 25-32): Clinical and endocrine features with a long term follow-up

Deletion of long arm of chromosome 1 (1q-) is a rare condition with malformations of many organs (central nervous system, heart, kidney, etc.). Authors describe a young girl characterised by 1q 25-32 deletion, with severe intra- and extrauterine growth retardation, facial dismorphisms, multiple organ malformations. The patient is followed for a long-term clinical and endocrine evaluation, with evidence of hypoplastic hypophysis and multiple endocrine deficiency.

Influenza dell’accrescimento in utero sui livelli plasmatici di Leptina, IGF-1 e IGF-BP3

Pseudoipoaldosteronismo transitorio in pretermine

[Fetal pseudohypoaldosteronism: rare cause of hydramnios].

PHA is a rare cause of hydramnios, characterized by increased amniotic fluid levels of aldosterone and sodium. Two distinct genetic entities (PHA type I and PHA type II) are included. Both are stemmed by a target organ defect with diminished renal tubular responsiveness to aldosterone. The AA present a case in which pregnancy resulted in a preterm infant with severe hydramnios, metabolic acidosis, hyponatriemia, hyperkaliemia. Salt and fluid replacement significantly improved clinical and metabolic condition. However a growth deficiency (-2 SDS) persists at follow-up.