Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.

Pathogenic variants in RASA1 are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same RASA1 variant.

Compartment syndrome after viper-bite in toddler: case report and review of literature.

Snakebites in Italy are a rare source of severe medical condition, except in case of venomous snakes. The venom causes both local and/or systemic complication which may determine death in 6-60 hours, particularly in children and the elderly. In fact, the same amount of venom affects children more severely than adults because of the reduced total dilution volume in children. The only specific and conflicting therapy for venomous snakebite is to administer the appropriate anti-venom; the remaining therapy is symptomatic and supportive. We describe the case of a 22-month-old child who, despite appropriate symptomatic treatment, developed severe signs and an acute compartment syndrome of the right upper limb, a rare complication of venom snakebite. Administration of antivenom and fasciotomy were needed to resolve the acute episode permitting a positive outcome. On the basis of literature review and our experience we hypothesize an algorithm for the treatment of these patients.

Are postnatal ampicillin levels actually related to the duration of intrapartum antibiotic prophylaxis prior to delivery? A pharmacokinetic study in 120 neonates.

OBJECTIVE: To assess ampicillin levels according to the duration of intrapartum antibiotic prophylaxis (IAP). DESIGN: Prospective cohort single-centre study. SETTING: Tertiary care centre (Modena, Italy). PATIENTS: 120 neonates≥35 weeks' gestation exposed to IAP. INTERVENTIONS: Neonates were divided into four groups, according to the duration of IAP prior to delivery: group 1 (n=30; <1 hour), group 2 (n=30; ≥1 and <2 hours), group 3 (n=30; ≥2 and <4 hours) and group 4 (n=30; ≥2 doses, ≥4 hours). MAIN OUTCOME MEASURES: Blood samples were collected at delivery (from the umbilical cord) and at age 4 hours (from a peripheral vessel). RESULTS: Median duration of IAP was 121 min (range 7-2045 min). Median ampicillin levels in umbilical cord blood were 10.4 µg/mL (IQR 6.4-14.9) and in peripheral blood were 4.7 µg/mL (IQR 2.8-6.4µg/mL). Umbilical cord blood levels reached a peak approximately 30 min after IAP and then declined significantly (p<0.001). Peripheral blood levels did not differ among study groups. Neonates exposed to a full loading dose (n=115) had peripheral blood levels 2.5-70 times higher than the minimal inhibitory concentration for group B streptococcus. There was no relationship between neonatal ampicillin concentrations and the duration of IAP prior to delivery (ß=-0.0003, 95% CI -0.02 to 0.001, p=0.680). CONCLUSIONS: Ampicillin levels reach a peak in the umbilical cord blood within 30 min of intrapartum administration. After a full loading dose, bactericidal levels persist for at least 4 hours after birth and seem independent of the duration of IAP prior to delivery.

Group B streptococcal infections in the newborn infant and the potential value of maternal vaccination.

Group B Streptococcus (GBS) is a leading cause of neonatal bacterial infections in developed countries. Early-onset disease (EOD) occurs at day 0-6 and late-onset disease occurs at day 7-89. Currently, the prevention of EOD relies upon intrapartum antibiotic prophylaxis (IAP) given to women who are GBS positive at prenatal screening or women with risk factors for EOD. Although successfully implemented, IAP has not fully eradicated EOD, and incidence rates of late-onset disease remain unchanged. Furthermore, antibiotic resistance may result from widespread antibiotic use. New prophylactic strategies are therefore of critical importance. A vaccine active against GBS, administered during pregnancy and combined with targeted IAP, could overcome these problems and reduce the mortality and morbidity associated with invasive diseases.