Infantile refractory seizures due to de novo KCNT 1 mutation.

We describe a term female infant who presented with multiple seizures early in infancy. The clinical and electrical seizures were refractory to traditional antiepileptic medications. After extensive workup, seizure panel testing revealed KCNT1 gene mutation, which is associated with nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. The infant's condition improved with the combination of traditional as well non-traditional antiepileptic therapy.

Resuscitator's perceptions and time for corrective ventilation steps during neonatal resuscitation.

BACKGROUND: The 2010 neonatal resuscitation program (NRP) guidelines incorporate ventilation corrective steps (using the mnemonic--MRSOPA) into the resuscitation algorithm. The perception of neonatal providers, time taken to perform these maneuvers or the effectiveness of these additional steps has not been evaluated. METHODS: Using two simulated clinical scenarios of varying degrees of cardiovascular compromise--perinatal asphyxia with (i) bradycardia (heart rate--40 min(-1)) and (ii) cardiac arrest, 35 NRP certified providers were evaluated for preference to performing these corrective measures, the time taken for performing these steps and time to onset of chest compressions. RESULTS: The average time taken to perform ventilation corrective steps (MRSOPA) was 48.9 ± 21.4s. Providers were less likely to perform corrective steps and proceed directly to endotracheal intubation in the scenario of cardiac arrest as compared to a state of bradycardia. Cardiac compressions were initiated significantly sooner in the scenario of cardiac arrest 89 ± 24 s as compared to severe bradycardia 122 ± 23 s, p < 0.0001. There were no differences in the time taken to initiation of chest compressions between physicians or mid-level care providers or with the level of experience of the provider. CONCLUSIONS: Effective ventilation of the lungs with corrective steps using a mask is important in most cases of neonatal resuscitation. Neonatal resuscitators prefer early endotracheal intubation and initiation of chest compressions in the presence of asystolic cardiac arrest. Corrective ventilation steps can potentially postpone initiation of chest compressions and may delay return of spontaneous circulation in the presence of severe cardiovascular compromise.

Adverse neonatal outcomes associated with early-term birth.

IMPORTANCE: Full-term neonates born between 37 and 41 weeks' gestational age have been considered a homogeneous, low-risk group. However, recent evidence from studies based on mode of delivery has pointed toward increased morbidity associated with early-term cesarean section births (37-38 weeks) compared with term neonates (39-41 weeks). OBJECTIVE: To compare the short-term morbidity of early-term vs term neonates in a county-based birth cohort using the primary objective of admission to a neonatal intensive care unit (NICU) or neonatology service. DESIGN, SETTING, AND PARTICIPANTS: Retrospective population-based 3-year birth cohort study (January 1, 2006-December 31, 2008) at all major birth hospitals in Erie County, New York. All full-term live births comprised the birth cohort; this information was obtained from the hospitals' perinatal databases, and data pertaining to NICU or neonatology service admissions were extracted from individual medical records. EXPOSURE: Gestational age of early term (37(0/7)-38(6/7) weeks) vs term (39(0/7)-41(0/7) weeks). MAIN OUTCOMES AND MEASURES: Admission to the NICU or neonatology service. RESULTS: There were 33,488 live births during the 3-year period, of which 29,741 had a gestational age between 37 and 41 weeks. Of all live births, 9031 (27.0%) were early term. Compared with term infants, early-term neonates had significantly higher risks for the following: hypoglycemia (4.9% vs 2.5%; adjusted odds ratio [OR], 1.92), NICU or neonatology service admission (8.8% vs 5.3%; adjusted OR, 1.64), need for respiratory support (2.0% vs 1.1%; adjusted OR, 1.93), requirement for intravenous fluids (7.5% vs 4.4%; adjusted OR, 1.68), treatment with intravenous antibiotics (2.6% vs 1.6%; adjusted OR, 1.62), and mechanical ventilation or intubation (0.6% vs 0.1%; adjusted OR, 4.57). Delivery by cesarean section was common among early-term births (38.4%) and increased the risk for NICU or neonatology service admission (12.2%) and morbidity (7.5%) compared with term births. Among vaginal deliveries, early-term neonates (6.8%) had a significantly higher rate of NICU or neonatology service admission compared with term neonates (4.4%). CONCLUSIONS AND RELEVANCE: Early-term births are associated with high neonatal morbidity and with NICU or neonatology service admission. Evaluation of local prevalence data will assist in implementation of specific preventive measures and plans, as well as prioritize limited health care resources.

Randomized controlled trial of vinyl bags versus thermal mattress to prevent hypothermia in extremely low-gestational-age infants.

OBJECTIVE: To compare the efficacy of vinyl bags and thermal warming mattresses in preventing hypothermia during delivery room resuscitation and stabilization of extremely low-gestational-age neonates (ELGANs). STUDY DESIGN: Preterm infants 23 to 28 weeks' gestational age were randomly allocated to either vinyl bag or thermal mattress group at delivery to prevent hypothermia. The primary outcome of the study was the axillary temperature on admission to the neonatal intensive care unit. RESULTS: A total of 41 infants were enrolled in the study. The mean admission temperature in the vinyl bag group was 36.1°C ± 0.7°C as compared with 35.8°C ± 1.3°C in the thermal mattress group. The subgroup of these infants with lower birth weight (<750 g) had significantly higher admission temperature with vinyl bags (36°C ± 0.4°C) compared with thermal mattress (35°C ± 1.3°C). CONCLUSION: Vinyl bags and warming mattress are equally effective in improving admission temperature in ELGANs. Improvements in other areas such as delivery room temperature may be needed to achieve the goal of preventing hypothermia in this vulnerable population.

Vinyl bags prevent hypothermia at birth in preterm infants.

OBJECTIVE: To compare the effect of standard care vs. the use of vinyl bags (Vi-Drape (R) isolation bag) on admission temperature in extremely premature infants < or = 28 weeks gestational age at birth. METHODS: Twenty seven premature infants with similar baseline characteristics were assigned and placed in vinyl bags (n=14) immediately following delivery without drying or received standard care (controls, n=13), including drying and placement under a radiant warmer. Axillary temperature was recorded on admission to the neonatal unit. RESULTS: The average temperature in the vinyl bag group was significantly higher (35.9 +/- 0.13 vs 34.9 +/- 0.24 degrees C, p=0.002). Although the cord blood pH was similar between the two groups (7.33+0.02 in the vinyl bag group and 7.33 +/- 0.01 in the control group), the worst pH in the first 6 hours of life was significantly lower in the control group (7.32 +/- 0.02 vs 7.22 +/- 0.04, p=0.03). There was a significant increase in maximal oxygen requirement during the first 24 h in the control group (82.9 vs 43.3% in the vinyl bag group, p=0.0004). CONCLUSION: Vinyl bags prevent heat loss and are a simple and effective intervention in preventing hypothermia in the delivery room and early acidosis in premature infants.

Bacterial toxins and enteral feeding of premature infants at risk for necrotizing enterocolitis.

Bacterial translocation and enteral feeding are factors implicated in neonatal necrotizing enterocolitis (NEC) in the preterm infant. A cohort of 60 preterm low birth-weight (LBW) infants (600-1,600 g at birth) consecutively admitted to the neonatal intensive care unit (NICU; N = 183) were prospectively followed to evaluate the role of bacterial endotoxins (lipopolysaccharides) and enteral feeding in the development of NEC. Stage I NEC was identified in 14/60 (23%) infants. In all, 15% (9/60) of infants followed, which represented roughly 5% of higher risk, LBW infants admitted to the NICU, progressed to Stage II or III NEC disease. Infants not enterally fed (nothing by mouth [NPO]) were at greatest risk of developing NEC. No infant who was breast milk fed progressed to Stage II or III NEC. The protective effect of breast milk was most evident when compared with the combined group of NPO or formula-feeding infants per person-week at risk (RR = .15, P < .04). Toxin-producing bacteria and endotoxin levels in stool filtrates predicted early and advanced stages of NEC disease. Cytokine concentrations (interleukin-6 [IL-6]) in stool appeared of limited value in reflecting mucosally limited disease in the gastrointestinal tract. Overgrowth of toxin-producing bacteria and their toxin products may adversely affect gut barrier function; monitoring endotoxin concentrations in stool filtrates may be most clinically useful in NPO and formula-fed infants identified at risk of developing NEC. Am. J. Hum. Biol. 10:211-219, 1998. © 1998 Wiley-Liss, Inc.