A Hamvas

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. ncbi request reprint Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards
    A 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
  2. ncbi request reprint Evaluation and management of inherited disorders of surfactant metabolism
    Aaron 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
  3. ncbi request reprint Informed consent for genetic research
    Aaron 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
  4. ncbi request reprint Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene
    Aaron 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
  5. pmc Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes
    Aaron 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
  6. ncbi request reprint Genetic disorders of surfactant proteins
    Aaron Hamvas
    Edward Mallinckrodt Department of Pediatrics, Washington University and St Louis Children s Hospital, St Louis, MO 63110, USA
    Neonatology 91:311-7. 2007
  7. pmc Developmental and genetic regulation of human surfactant protein B in vivo
    Aaron 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
  8. ncbi request reprint Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation
    Aaron 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
  9. pmc Comprehensive genetic variant discovery in the surfactant protein B gene
    Aaron 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
  10. ncbi request reprint Population-based estimates of surfactant protein B deficiency
    F 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

Research Grants

Collaborators

Detail Information

Publications41

  1. ncbi request reprint Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards
    A 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...
  2. ncbi request reprint Evaluation and management of inherited disorders of surfactant metabolism
    Aaron 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)...
  3. ncbi request reprint Informed consent for genetic research
    Aaron 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
    ....
  4. ncbi request reprint Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene
    Aaron 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...
  5. pmc Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes
    Aaron 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...
  6. ncbi request reprint Genetic disorders of surfactant proteins
    Aaron 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...
  7. pmc Developmental and genetic regulation of human surfactant protein B in vivo
    Aaron 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)...
  8. ncbi request reprint Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation
    Aaron 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...
  9. pmc Comprehensive genetic variant discovery in the surfactant protein B gene
    Aaron 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
    ....
  10. ncbi request reprint Population-based estimates of surfactant protein B deficiency
    F 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...
  11. pmc Population and disease-based prevalence of the common mutations associated with surfactant deficiency
    Tami 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...
  12. ncbi request reprint Genetic disorders of neonatal respiratory function
    F 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...
  13. pmc Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene
    Amy 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...
  14. ncbi request reprint Defects in surfactant synthesis: clinical implications
    F 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...
  15. ncbi request reprint Surfactant composition and function in patients with ABCA3 mutations
    Tami 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...
  16. pmc Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription
    Jennifer 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...
  17. ncbi request reprint Genetic variant characterization in intron 4 of the surfactant protein B gene
    Aaron 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...
  18. ncbi request reprint Improving survival of vulnerable infants increases neonatal intensive care unit nosocomial infection rate
    N 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...
  19. ncbi request reprint 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 infant
    A 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...
  20. ncbi request reprint Retinal and intraventricular cerebral hemorrhages in the preterm infant born at or before 30 weeks' gestation
    I 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...
  21. pmc Increased risk for respiratory distress among white, male, late preterm and term infants
    J 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...
  22. ncbi request reprint A major deletion in the surfactant protein-B gene causing lethal respiratory distress
    Daniel 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...
  23. ncbi request reprint Ventilator-associated pneumonia in extremely preterm neonates in a neonatal intensive care unit: characteristics, risk factors, and outcomes
    Anucha 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)...
  24. ncbi request reprint Endogenous pulmonary surfactant metabolism is not affected by mode of ventilation in premature infants with respiratory distress syndrome
    Assaad 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
    ..To determine if high frequency oscillatory ventilation (HFOV) decreases surfactant production in premature infants with respiratory distress syndrome (RDS)...
  25. pmc The age of necrotizing enterocolitis onset: an application of Sartwell's incubation period model
    R 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)...
  26. ncbi request reprint High-frequency oscillation and paralysis stabilize surfactant protein-B--deficient infants
    E 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...
  27. pmc Quantification of rare allelic variants from pooled genomic DNA
    Todd 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...
  28. ncbi request reprint Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure
    Lisanne M Palomar
    Edward Mallinckrodt Department of Pediatrics, Washington University, St Louis, Missouri 63110, USA
    J Pediatr 149:548-53. 2006
    ..To determine if the outcomes of lung transplantation for infants with surfactant protein-B (SP-B) deficiency are unique...
  29. ncbi request reprint Metabolic kinetics of pulmonary surfactant in newborn infants using endogenous stable isotope techniques
    Kajsa 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
    ....
  30. ncbi request reprint Endogenous surfactant metabolism in newborn infants with and without respiratory failure
    Kajsa 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...
  31. ncbi request reprint Neonatal peripherally inserted central catheter team. Evolution and outcomes of a bedside-nurse-designed program
    Deborah 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...
  32. ncbi request reprint Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase
    David 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...
  33. ncbi request reprint Substrate utilization and kinetics of surfactant metabolism in evolving bronchopulmonary dysplasia
    Kimberly 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
    ..To use stable isotopically labeled precursors of pulmonary surfactant phospholipids to measure precursor utilization and surfactant turnover in premature infants who required mechanical ventilation at birth, 2 weeks, and >4 weeks of age...
  34. ncbi request reprint Antimicrobial use and the influence of inadequate empiric antimicrobial therapy on the outcomes of nosocomial bloodstream infections in a neonatal intensive care unit
    Anucha Apisarnthanarak
    Division of Infectious Diseases, Faculty of Medicine, Thammasart University Hospital, Pratumthani, Thailand
    Infect Control Hosp Epidemiol 25:735-41. 2004
    ..To evaluate antimicrobial use and the influence of inadequate empiric antimicrobial therapy on the outcomes of nosocomial bloodstream infections (BSIs)...
  35. ncbi request reprint N-terminally extended surfactant protein (SP) C isolated from SP-B-deficient children has reduced surface activity and inhibited lipopolysaccharide binding
    Jing 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...
  36. ncbi request reprint Mutations in the surfactant protein C gene associated with interstitial lung disease
    Lawrence M Nogee
    Division of Neonatology, John Hopkins University Hospital, Johns Hopkins University, Baltimore, MD 21287, USA
    Chest 121:20S-21S. 2002
  37. ncbi request reprint A common mutation in the surfactant protein C gene associated with lung disease
    H 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...
  38. ncbi request reprint The N-terminal propeptide of lung surfactant protein C is necessary for biosynthesis and prevents unfolding of a metastable alpha-helix
    Jing 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...
  39. ncbi request reprint Surfactant phosphatidylcholine metabolism in neonates with meconium aspiration syndrome
    Daphne 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...
  40. ncbi request reprint Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease
    Ola 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...
  41. ncbi request reprint Pulmonary dysfunction and the integrity of the pulmonary surfactant system
    Aaron Hamvas
    Nutrition 18:680-1. 2002

Research Grants5

  1. In Vivo Metabolism of Pulmonary Surfactant in Infants
    Aaron Hamvas; Fiscal Year: 2005
    ..abstract_text> ..