Research Topics
Species | A HamvasSummaryAffiliation: Washington University School of Medicine Country: USA Publications
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Publications
Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cardsA Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri 63110, USA
Pediatr Res 50:666-8. 2001..High-throughput DNA extraction and amplification will permit establishment of DNA banks as well as efficient estimation of population-based genotype frequency for both rare and common genetic disorders...- Evaluation and management of inherited disorders of surfactant metabolismAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri 63110, USA
Chin Med J (Engl) 123:2943-7. 2010..1)... - Informed consent for genetic researchAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
Arch Pediatr Adolesc Med 158:551-5. 2004.... - Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C geneAaron Hamvas
Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, 1 Children s Place, St Louis, MO 63110, USA
Am J Respir Cell Mol Biol 30:771-6. 2004..We propose that a dominant negative effect on surfactant protein metabolism and function results from aggregation of misfolded proSP-C and subsequent cell injury and inflammation... 
Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
J Pediatr 155:854-859.e1. 2009..To characterize inheritance of homozygous, rare, recessive loss-of-function mutations in surfactant protein-B (SFTPB) or ATP binding cassette, subfamily A, member 3 (ABCA3) genes in newborns with lethal respiratory failure...- Genetic disorders of surfactant proteinsAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University and St Louis Children s Hospital, St Louis, MO 63110, USA
Neonatology 91:311-7. 2007..The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed... - Developmental and genetic regulation of human surfactant protein B in vivoAaron Hamvas
Division of Newborn Medicine, the Edward Mallinckrodt Department of Pediatrics and St Louis Children s Hospital, St Louis, MO 63110, USA
Neonatology 95:117-24. 2009..Genetic and developmental disruption of surfactant protein B (SP-B) expression causes neonatal respiratory distress syndrome (RDS)... - Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluationAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University and St Louis Children s Hospital, St Louis, MO 63110, USA
Semin Perinatol 30:316-26. 2006..These disorders provide insights into some of the distinct mechanisms that disrupt the surfactant metabolic cycle and cause respiratory disease in infants and children... - Comprehensive genetic variant discovery in the surfactant protein B geneAaron Hamvas
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri 63110, USA
Pediatr Res 62:170-5. 2007.... - Population-based estimates of surfactant protein B deficiencyF S Cole
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, MO 63110, USA
Pediatrics 105:538-41. 2000..Using independent clinical ascertainment and molecular methods in different populations, we sought to determine allele frequency... - Population and disease-based prevalence of the common mutations associated with surfactant deficiencyTami H Garmany
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Pediatr Res 63:645-9. 2008..E292V was over-represented in newborns with RDS suggesting that E292V or its unique haplotype impart increased genetic risk for RDS... - Genetic disorders of neonatal respiratory functionF S Cole
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St Louis Children s Hospital, St Louis, Missouri 63110, U S A
Pediatr Res 50:157-62. 2001..We review examples of genetic variations known to be associated with or cause respiratory distress in infancy... - Recombination as a mechanism for sporadic mutation in the surfactant protein-C geneAmy D McBee
Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
Pediatr Pulmonol 43:443-50. 2008..To determine haplotype background of common mutations in the genes encoding surfactant proteins B and C (SFTPB and SFTPC) and to assess recombination in SFTPC... - Defects in surfactant synthesis: clinical implicationsF Sessions Cole
Division of Newborn Medicine in the Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, One Children s Place, St Louis, MO 63110, USA
Pediatr Clin North Am 53:911-27, ix. 2006..In contrast to developmental causes of respiratory distress, which may improve as infants and children mature, genetic causes result in both acute and chronic (and potentially irreversible) respiratory failure... - Surfactant composition and function in patients with ABCA3 mutationsTami H Garmany
Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, 63110, USA
Pediatr Res 59:801-5. 2006..We conclude that mutations in ABCA3 are associated with surfactant that is deficient in phosphatidylcholine and has decreased function, suggesting that ABCA3 plays an important role in pulmonary surfactant phospholipid homeostasis... - Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcriptionJennifer A Wambach
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, 660 South Euclid, St Louis, MO 63110, USA
Pediatr Res 68:216-20. 2010..1647 removes a potential methylation site. This combined statistical, in vitro, and in silico approach suggests that reduced SFTPC transcription contributes to the genetic risk for neonatal RDS in developmentally susceptible infants... - Genetic variant characterization in intron 4 of the surfactant protein B geneAaron Hamvas
Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, St Louis, Missouri, USA
Hum Mutat 26:494-5. 2005..7, 95% CI 1.0-7.2). Reliable characterization of genetic variants in intron 4 requires both a high fidelity polymerase and sequencing of variant alleles... - Improving survival of vulnerable infants increases neonatal intensive care unit nosocomial infection rateN Zafar
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO 63110, USA
Arch Pediatr Adolesc Med 155:1098-104. 2001..Because these infections occur in a small proportion of infants, understanding the host factors that contribute to this vulnerability is necessary to decrease nosocomial infections in neonatal intensive care units... - Use of stable isotope labeling technique and mass isotopomer distribution analysis of [(13)C]palmitate isolated from surfactant disaturated phospholipids to study surfactant in vivo kinetics in a premature infantA Merchak
Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, St Louis Children s Hospital, 1 Children s Place, St Louis, Missouri 63110, USA
J Mass Spectrom 35:734-8. 2000..The FSR of palmitate from acetate was 5.2% per day. Stable isotope techniques and MIDA will provide insights into the kinetics of surfactant metabolism in newborns with respiratory dysfunction... - Retinal and intraventricular cerebral hemorrhages in the preterm infant born at or before 30 weeks' gestationI I Anteby
Department of Ophthalmology and Visual Sciences, St Louis Children's Hospital at Washington University School of Medicine, St Louis, Missouri 63110, USA
J AAPOS 5:90-4. 2001..Retinal hemorrhages in very premature neonates are not predictive of IVH-related brain damage... - Increased risk for respiratory distress among white, male, late preterm and term infantsJ S Anadkat
Division of Newborn Medicine, The Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MI 63110, USA
J Perinatol 32:780-5. 2012..To determine whether race/ethnicity and sex independently increase risk of respiratory distress syndrome (RDS) in late preterm and term infants... - A major deletion in the surfactant protein-B gene causing lethal respiratory distressDaniel J Wegner
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children s Hospital, MO 63110, USA
Acta Paediatr 96:516-20. 2007..No large deletions in SFTPB have been previously identified... - Ventilator-associated pneumonia in extremely preterm neonates in a neonatal intensive care unit: characteristics, risk factors, and outcomesAnucha Apisarnthanarak
Division of Infectious Diseases, Department of Pediatrics, St Louis Children s Hospital, Washington University School of Medicine, St Louis, Missouri 63110, USA
Pediatrics 112:1283-9. 2003..To determine the rates, characteristics, risk factors, and outcomes of ventilator-associated pneumonia (VAP) in extremely preterm neonates in a neonatal intensive care unit (NICU)... - Endogenous pulmonary surfactant metabolism is not affected by mode of ventilation in premature infants with respiratory distress syndromeAssaad Merchak
The Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St Louis, Missouri 63110, USA
J Pediatr 140:693-8. 2002..CONCLUSION: Surfactant metabolism is similar in preterm infants ventilated with HFOV and CV. Shortened surfactant half-life may characterize a subset of preterm infants with lethal RDS... - The age of necrotizing enterocolitis onset: an application of Sartwell's incubation period modelR Gonzalez-Rivera
Division of Gastroenterology, St Louis Children s Hospital, Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
J Perinatol 31:519-23. 2011..Model age of necrotizing enterocolitis (NEC) onset applying Sartwell's model of incubation periods, and examine its relationship to gestational age (GA)... - High-frequency oscillation and paralysis stabilize surfactant protein-B--deficient infantsE L King
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA
J Perinatol 21:421-5. 2001..This ventilatory strategy should be considered while awaiting the diagnosis of SP-B deficiency or lung transplantation... - Quantification of rare allelic variants from pooled genomic DNATodd E Druley
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
Nat Methods 6:263-5. 2009..Our base-calling algorithm, SNPSeeker, derived from large deviation theory, detected single-nucleotide polymorphisms present at frequencies below the raw error rate of the sequencing platform... - Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failureLisanne M Palomar
Edward Mallinckrodt Department of Pediatrics, Washington University, St Louis, Missouri 63110, USA
J Pediatr 149:548-53. 2006..These outcomes are important considerations in deciding to pursue lung transplantation for infants with disorders of alveolar homeostasis... - Metabolic kinetics of pulmonary surfactant in newborn infants using endogenous stable isotope techniquesKajsa Bohlin
Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA
J Lipid Res 46:1257-65. 2005.... - Endogenous surfactant metabolism in newborn infants with and without respiratory failureKajsa Bohlin
Division of Newborn Medicine, St. Louis Children's Hospital, 1 Children's Place, St. Louis, MO 63110, U.S.A
Pediatr Res 54:185-91. 2003..Surfactant turnover in term infants with severe respiratory failure is similar to that of preterm infants with RDS, suggesting either delayed maturity of the surfactant system or disruption from the underlying disease process... - Neonatal peripherally inserted central catheter team. Evolution and outcomes of a bedside-nurse-designed programDeborah A Linck
St Louis Children s Hospital, NICU 5E10, One Children s Place, St Louis, MO 63110, USA
Adv Neonatal Care 7:22-9. 2007..This team set and achieved the goals of training bedside nurses to place PICCs, providing consistent management of PICCs, and closely monitoring outcomes... - Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidaseDavid J Loren
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA
J Perinatol 25:491-4. 2005..There is wide variability in the age of onset and severity of symptoms in sialidosis. We report here a case of sialidosis due to novel mutations in NEU1 presenting as severe nonimmune hydrops fetalis... - Substrate utilization and kinetics of surfactant metabolism in evolving bronchopulmonary dysplasiaKimberly L Spence
Division of Newborn Medicine, The Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, and St. Louis Children's Hospital, St Louis, Missouri 63110, USA
J Pediatr 147:480-5. 2005..03). CONCLUSIONS: Total surfactant turnover increased in premature infants with evolving bronchopulmonary dysplasia. The increasing contributions from acetate and plasma palmitate suggest a decrease in surfactant phospholipid recycling... - Antimicrobial use and the influence of inadequate empiric antimicrobial therapy on the outcomes of nosocomial bloodstream infections in a neonatal intensive care unitAnucha Apisarnthanarak
Division of Infectious Diseases, Faculty of Medicine, Thammasart University Hospital, Pratumthani, Thailand
Infect Control Hosp Epidemiol 25:735-41. 2004..Additional studies on the role of inadequate empiric antimicrobial therapy and the outcomes of BSIs among NICU patients are needed... - N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide bindingJing Li
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S 171 77 Stockholm, Sweden
Biochemistry 43:3891-8. 2004..The results of this study indicate that the early postnatal fatal respiratory distress seen in SP-B-deficient children is combined with the near absence of active variants of SP-C... - Mutations in the surfactant protein C gene associated with interstitial lung diseaseLawrence M Nogee
Division of Neonatology, John Hopkins University Hospital, Johns Hopkins University, Baltimore, MD 21287, USA
Chest 121:20S-21S. 2002 - A common mutation in the surfactant protein C gene associated with lung diseaseH Scott Cameron
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
J Pediatr 146:370-5. 2005..To determine the contribution of the surfactant protein C (SP-C) I73T mutation to lung disease... - The N-terminal propeptide of lung surfactant protein C is necessary for biosynthesis and prevents unfolding of a metastable alpha-helixJing Li
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 77 Stockholm, Sweden
J Mol Biol 338:857-62. 2004..Finally, in an acidic environment, SP-Ci unfolds and aggregates into amyloid fibrils like SP-C. These data suggest a direct role of the N-terminal propeptide in SP-C biosynthesis... - Surfactant phosphatidylcholine metabolism in neonates with meconium aspiration syndromeDaphne J Janssen
Erasmus MC Sophia, Division of Neonatology and Pediatric Surgery, Rotterdam, The Netherlands
J Pediatr 149:634-9. 2006..Because meconium directly inhibits surfactant function, we sought to determine the effect of meconium on endogenous surfactant synthesis and clearance... - Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung diseaseOla D Saugstad
Department of Pediatric Research, Rikshospitalet Radiumhospitalet Health Trust, University of Oslo, Oslo, Norway
Acta Paediatr 96:185-90. 2007..To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene... - Pulmonary dysfunction and the integrity of the pulmonary surfactant systemAaron Hamvas
Nutrition 18:680-1. 2002
Research Grants
- In Vivo Metabolism of Pulmonary Surfactant in InfantsAaron Hamvas; Fiscal Year: 2005..abstract_text> ..