PNAC was common in ELBW infants, was associated with various clinical factors and increased the risk of mortality. However, we did not observe the protective effect of FOLP against PNAC.

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24-q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9)(p12q13),dup(15)(q24q26.3). Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

PurposeWe performed this study to evaluate the safety of permissive hypotension management in extremely low birth weight infants (ELBWIs).Materials and MethodsMedical records of all inborn ELBWIs admitted to Samsung Medical Center from January 2004 to December 2008 were reviewed retrospectively. Of a total of 261 ELBWIs, 47 (18%) required treatment for hypotension (group T), 110 (42%) remained normotensive (group N), and 104 (40%) experienced more than one episode of hypotension without treatment (group P) during the first 72 hours of life. Treatment of hypotension included inotropic support and/or fluid loading.ResultsBirth weight and Apgar scores were significantly lower in the T group than the other two groups. In the N group, the rate of pathologically confirmed maternal chorioamnionitis was significantly higher than other two groups, and the rate was higher in the P group than the T group. After adjusting for covariate factors, no significant differences in mortality and major morbidities were found between the N and P groups. However, the mortality rate and the incidence of intraventricular hemorrhage (≥stage 3) and bronchopulmonary dysplasia (≥moderate) were significantly higher in the T group than the other two groups. Long term neurodevelopmental outcomes were not significantly different between the N and P groups.ConclusionClose observation of hypotensive ELBWIs who showed good clinical perfusion signs without intervention allowed to avoid unnecessary medications and resulted in good neurological outcomes.

Background/Aims: This prospective study was conducted to investigate the feasibility of an early discontinuation of thyroid hormone treatment in very-low-birth-weight (VLBW) infants with congenital hypothyroidism (CH). Methods: We enrolled VLBW infants between January 2011 and December 2012. The infants were divided into the hypothyroid and normal thyroid function groups according to the results of a thyroid function test. We performed an early off-therapy trial at 24 months of age. Results: Of the 182 VLBW infants enrolled, 15 were lost to follow-up and 167 were finally enrolled. In total, 24 infants (14.4%) were assigned to the hypothyroid function group and were treated with thyroid hormone. Younger gestational age and a lower birth weight were associated with hypothyroid function. In the hypothyroid function group, hypothyroidism (HT) and hyperthyrotropinemia (HTT) were observed in 13 and 11 infants, respectively. There were no differences in the clinical characteristics between the HT and HTT groups. Overall, 24 infants discontinued thyroxine medication at 24 months of age after normal results had been confirmed by radiologic work-ups, including thyroid ultrasonography and technetium-99m scans. All infants were successfully weaned off thyroxine and maintained euthyroid function. Conclusion: Early discontinuation of thyroid hormone replacement therapy is possible in the majority of VLBW infants with CH.