Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore the prevalence of pulmonary surfactant associated pathway genes functional variants in Chinese population.</p><p><b>METHOD</b>Using a cohort of 258 mixed ethnic population of Han and Zhuang, we pooled DNA samples from 146 term male infants and 112 term female infants and then used an Ill umina next generation sequencing platform to perform the complete exonic resequencing in 6 target genes:surfactant protein-B (SFTPB), surfactant protein-C (SFTPC), ATP-binding cassette transporter A3 (ABCA3), lysophospholipid acyltransferase 1 (LPCAT1), choline phosphotransferase 1 (CHPT1), phosphate cytidylyltransferase 1, choline, beta (PCYT1B). Collapsing methods was used to determine the functional allele frequency.</p><p><b>RESULT</b>(1) Altogether, 128 variants were found, including 44 synonymous variants, 66 nonsynonymous variants and 18 insertions-deletions. Of these, 28 variants were predicted to alter protein function. Two of these variants were seen twice, the rest variants were only seen once, for a total of 30 functional alleles; (2) ABCA3 had the most functional variants in both male and female groups with the minor allele frequencies of 0.014 (1.4%) and 0.04 (4%), respectively. The total functional allele frequencies of 6 genes were 0.041 (4.1%) and 0.08 (8%) in the two groups, respectively (P = 0.06).</p><p><b>CONCLUSION</b>(1) Functional variants in pulmonary surfactant associated pathway genes are present in the mixed Han-Zhuang population. (2) ABCA3 contained the most functional variants suggesting that ABCA3 could contribute significantly to neonatal respiratory distress syndrome and other lung disease.</p>

Risk factors for nosocomial bloodstream infections in a neonatal intensive care unit / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To assess the risk factors for nosocomial blood-stream infection (BSI) in a neonatal intensive care unit (NICU).</p><p><b>METHODS</b>Clinical data from the neonates admitted to the NICU in the St. Louis Children's Hospital in Washington University School of Medicine between January 2005 and December 2006 were retrospectively studied.</p><p><b>RESULTS</b>A total of 1 290 neonates were included. Overall, 175 nosocomial BSIs occurred. Catheter-related BSIs accounted for 62.3% (109 cases). The incidence of nosocomial BSI was 4.22 per 1 000 patient-days. Logistic regression analysis revealed that low gestational age, low Apgar scores at 5 minutes, use of central venous catheter (CVC), and longer CVC use were risk factors for the development of nosocomial BSI. In the subgroup of neonates with CVC, mechanical ventilation was an additional independent risk factor for BSI.</p><p><b>CONCLUSIONS</b>Catheter-related BSI is the major source of nosocomial BSI in the NICU. Prematurity, low Apgar scores at birth and prolonged CVC use are risk factors for the development of BSI.</p>

Evaluation and management of inherited disorders of surfactant metabolism / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To review the pathophysiology, evaluation, management, and outcomes of children with inherited disorders of surfactant metabolism due to mutations in the genes encoding surfactant proteins-B or -C (SFTPB, SFTPC), ATP binding cassette member A3 (ABCA3), and thyroid transcription factor (NKX2.1).</p><p><b>DATA SOURCES</b>Review of the literature, previous work from the author's and collaborators' laboratories, St. Louis Children's Hospital Lung Transplant Database.</p><p><b>STUDY SELECTION</b>Key articles in the field, author's work.</p><p><b>RESULTS</b>Inherited disorders of surfactant metabolism present as acute, severe respiratory dysfunction in the neonatal period (SFTPB, ABCA3, NKX2.1) or as chronic respiratory insufficiency in later infancy and childhood which is of variable onset, severity, and course (SFTPC, ABCA3, NKX2.1). Diagnosis is established with sequencing the relevant genes; lung biopsy with electron microscopy is a useful adjunct. For surfactant protein-B and ABCA3 deficiency presenting with acute neonatal disease, treatment options are limited to lung transplantation or compassionate care. For the more chronic presentations of surfactant protein-C, ABCA3, and NKX2.1 associated disease, the natural history is variable and therefore individualized, supportive care is appropriate,</p><p><b>CONCLUSIONS</b>Inherited disorders of surfactant metabolism are rare, but informative diseases that provide unique opportunities for understanding mechanisms of respiratory disease in newborns and children.</p>