A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.

Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis congenita and absence of a right pulmonary artery, which is suggestive of AOS. This was confirmed by the identification of a novel missense mutation in DLL4, a heterozygous one base pair change at nucleotide 82 (c.82G>C, p.Gly28Arg), which is in N-terminal domain. This is the first DLL4-related AOS case with arterial defect.

Outcome analysis of jaundice fast-track system implementation in Thammasat University Hospital.

BACKGROUND: Infants who were readmitted with high level of bilirubin (more than 20 mg/dl) should be treated as an acute medical emergency to prevent acute and chronic bilirubin encephalopathy. OBJECTIVE: To determine causes of severe neonatal hyperbilirubinemia, risk factors for exchange transfusion and outcomes of neonate after implementation of the jaundice fast-track system in Thammasat hospital. MATERIAL AND METHOD: The medical records of neonates presenting with clinically significant hyperbilirubinemia to the outpatient department or emergency department after implementation of the jaundice fast-track system at Thammasat university from October 1, 2010 through september 30, 2012, were retrospectively reviewed. RESULTS: There were 76 infants included in the study. One infant had neurological abnormalities consistent with acute bilirubin encephalopathy at presentation. all infants received intensive phototherapy. Eight infants (10.5%) underwent an exchange transfusion. a cause of hyperbilirubinemia was identified in 66 cases (86%). Breastfeeding jaundice was the most common cause (47%). The mean peak MB level was higher in the exchange transfusion group than the phototherapy group (25.0 +/- 2.9 mg/dl vs. 21.2 +/- 1.8 mg/dl, p < 0.001). Three infants in the exchange transfusion group had sepsis on admission compared to none in the phototherapy group, (p < 0.001). Infant diagnosed as cephalhematoma underwent an exchange transfusion. The median (range) length of stay was significantly longer in the exchange transfusion group than the phototherapy group (9 (2-15) days vs. 2 (1-12) days, p < 0.001). There were no statistical differences between the two groups in age at readmission and time to phototherapy. All infants in this study were discharged as no neurological abnormalities. Infants presented with peak MB > or = 24 mg/dl had the greatest risk of exchange transfusion (or = 26.6; 95% ci = 4.6, 153.7). CONCLUSION: Initiating phototherapy within an hour of admission in infants who were readmitted with high levels of bilirubin is effective to prevent bilirubin encephalopathy. Physicians' early recognition of the risk factors to exchange transfusion is, therefore, crucial.

Effect of polyethylene bag to prevent heat loss in preterm infants at birth: a randomized controlled trial.

BACKGROUND: Hypothermia at birth has been associated with increased morbidity and mortality in preterm infants. OBJECTIVE: To evaluate the effect of wrap with polyethylene bag at birth on admission temperatures and the incidences of hypothermia on admission in preterm infants gestational age < or = 32 weeks. MATERIAL AND METHOD: A randomized controlled trial was conducted in thirty-eight preterm infants with gestational age < or = 32 weeks. The infants were assigned and placed in polyethylene bag immediately after birth without drying under a radiant warmer or received standard thermal care including being dried and placed under a radiant warmer. Rectal temperatures were recorded on admission to neonatal unit and incidences o hypothermia were compared between the two groups. RESULTS: The body temperatures of preterm infants with polyethylene bag were significantly higher than those of the control group {median 36.5 degrees C (range 35.5 degrees C-37.2 degrees C) vs. 35.9 degrees C (range 34.9 degrees C-36.5 degrees C), p < 0.001}. On admission, the incidence of hypothermia in preterm infants wrap with polyethylene bag was significantly lower than in the control group (26% vs. 89%, p < 0.001) with a risk reduction of 0.63 (95% CI 0.39-0.87) and a number needed to treat of 1.58. CONCLUSION: Polyethylene bag prevents heat loss at delivery in preterm infant less than 32 weeks gestation. Incidence of hypothermia was significantly reduced by use of polyethylene bag, a simple and inexpensive intervention.

The fractional excretion of urea in the differential diagnosis of prerenal failure and acute tubular necrosis in neonates.

BACKGROUND: Acute renal failure (ARF) in a newborn is a common problem. Fractional excretion of sodium (FENa) has been used to distinguish between the two main causes of ARF, prerenal failure and acute tubular necrosis (ATN). However, the clinical usefulness of FENa could be limited by furosemide diuretic that are commonly prescribed inARF patients. In contrast, urea is not reabsorbed significantly in the distal nephron, thus the fractional excretion of urea (FE UN) should not be affected by furosemide. OBJECTIVE: To test the hypothesis that FE UN is not effected by furosemide and useful in differentiating between prerenal failure and ATN. MATERIAL AND METHOD: Neonates admitted to the Department of Pediatrics, Thammasat University Hospital from August 2007-May 2009 were studies prospectively for ARF which is defined as urine output < 0.5 ml/kg/hr after the 1st day and serum creatinine > 1.5 mg/dl with normal maternal renal function. FENa and FEUN were performed on the initial time of diagnosis and were repeated on two consecutive days. RESULTS: Neonates with ARF were classified as prerenal failure (n=38) and ATN (n=5). The prerenal failure neonates were divided into two groups: those prerenal failure without furosemide (n=27), those prerenal failure with furosemide (n=11). The FENa at the initial time of diagnosis and the two consecutive days in prerenal failure neonates (0.33 +/- 0.57, 10.1 +/- 2.73, 0.8 +/- 1.32%, respectively) were lower than ATN neonates (4.74 +/- 6.12, 5.05 +/- 4.03, 3.98 +/- 2.47%, respectively) significantly. Both FENa and FE UN were no statistical difference between the two prerenal failure groups and ATN neonates. CONCLUSION: A FE Na in prerenal failure is significantly lower than ATN. A FE UN has no benefit in distinguishing between prerenal failure and ATN. Furosemide has no effect on both FENa and FE UN.