Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.

Multisystemic smooth muscle dysfunction syndrome (MSMDS, OMIM # 613834) is a rare autosomal dominant condition caused by pathogenetic variants of ACTA2 gene that result in impaired muscle contraction. MSMDS is characterized by an increased susceptibility to aneurismal dilatations and dissections, patent ductus arteriosus, early onset coronary artery disease, congenital mydriasis, chronic interstitial lung disease, hypoperistalsis, hydrops of gall bladder, and hypotonic bladder. Here, we report an early diagnosis of a MSMDS related to ACTA2 p.Arg179His (R179H) mutation in a newborn and performed a review of the literature. An early diagnosis of MSMDS is extremely important, because of the severe involvement of cardiovascular system in the MSMDS. Multidisciplinary care and surveillance and timely management of symptoms are important to reduce the risk of complications.

[Parenteral nutrition with preconceived bag in a preterm newborn ELBW.] / Nutrizione parenterale con sacca precostituita in un neonato pretermine di peso estremamente basso.

INTRODUCTION: The administration of adequate nutritional intake, from the first days of life, is of fundamental importance in the management of the newborn extremely low birth weight (ELBW): parenteral nutrition (PN), as a support for early enteral feeding, plays a central role in the attempt to guarantee a quantitative and qualitative growth similar to that of the fetus in utero, allowing an adequate caloric, macro and micronutrient intake. The standardized PN, carried out through pre-established bags, allows in the case in which is not possible a personalized preparation, balanced nutritional contributions, reducing the risk of microbiological contamination and errors in preparation. CLINICAL CASE: We describe the case of an extremely preterm infant with various co-morbid conditions (severe respiratory syndrome, cerebral hemorrhage, anemia, sepsis and patency of the arterial duct) in which PN was used in a pre-established bag, as a support to enteral feeding in the first weeks of life, characterized by extreme clinical instability. CONCLUSIONS: PN is essential for some types of newborns and in particular for the ELBW preterms in which enteral feeding, although undertaken early, does not guarantee the necessary contributions to promote adequate growth. The use of NP in a pre-made bag can be a valid alternative to individualized formulations, where not available.

Access to level III perinatal care for pregnancies of very short duration (<32 weeks).

AIMS: To evaluate to which extent pregnancies of very short duration (<32 weeks' gestation) are concentrated in level III centers. METHODS: Area-based study in the 57 maternity units of the Lazio Region (Italy), years 2003-2004, including: 1012 live births (gestational age 22-31 weeks), 261 fetal losses (22-31 weeks) and 209 induced abortions (22-25 weeks). Variables associated with access to a level III unit were evaluated through multivariable logistic regression models. RESULTS: 83.7% of all pregnancies <32 weeks (88.8% of live births, 71.6% of fetal losses and 75.1% of induced abortions) were admitted to a level III perinatal center; 23.4% of live newborns, delivered in a level III hospital, were subsequently transferred to a same level facility. The probability that a fetal loss was not treated in a level III perinatal unit was higher for women without pregnancy complication, with lower education level, and living outside the metropolitan area. CONCLUSIONS: Regionalization of perinatal care in Lazio is not satisfactory. Concentration of high-risk deliveries in level III centers is good, but in utero transfer is insufficient. This study can help to define the effectiveness of different organizational systems on access to locally available perinatal facilities and to optimize general organizational patterns of perinatal care.