The Genetics of Disorders Affecting the Premature Newborn

Emery and Rimoin's Principles and Practice of Medical Genetics

Volumn , Issue , 2013, Pages 1-22

  Prosnitz, Aaron ^a   Gruen, Jeffrey R ^a   Bhandari, Vineet ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882773609     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-383834-6.00171-3     Document Type: Chapter

References (159)

1. J. Martin, B. Hamilton, P. Sutton, et al. (2010) Births: Final Data for 2007. Hyattsville, MD: National Center for Health Statistics
2. A.A. Fanaroff, M. Hack and M.C. Walsh (2003) The NICHD Neonatal Research Network: Changes in Practice and Outcomes During the First 15 Years. Semin. Perinatol. 27(4), 281-287.
3. O.D. Saugstad (2005) Oxidative Stress in the Newborn—A 30-Year Perspective. Biol. Neonate 88(3), 228-236.
4. J.M. Davis and R.L. Auten (2010) Maturation of the Antioxidant System and the Effects on Preterm Birth. Semin. Fetal Neonatal Med. 15(4), 191-195.
5. V. Bhandari and J.R. Gruen (2006) The Genetics of Bronchopulmonary Dysplasia. Semin. Perinatol. 30(4), 185-191.
6. B.J. Stoll, N.I. Hansen, E.F. Bell, S. Shankaran, A.R. Laptook, M.C. Walsh, E.C. Hale, N.S. Newman, K. Schibler, W.A. Carlo, et al. (2010) Neonatal Outcomes of Extremely Preterm Infants from the NICHD Neonatal Research Network. Pediatrics 126(3), 443-456.
7. J.B. Warren and J.M. Anderson (2009) Core Concepts: Respiratory Distress Syndrome. Neoreviews 10(7), e351-e361.
8. American Lung Association (2008) Respiratory Distress Syndrome and Bronchopulmonary Dysplasia. Periodical http://www.lungusa.org/assets/documents/publications/lung-disease-data/ldd08-chapters/LDD-08-RDS-BPD.pdf (accessed February 2011) [Online]
9. J. Fraser, M. Walls and W. McGuire (2004) Respiratory Complications of Preterm Birth. BMJ 329(7472), 962-965.
10. M. Hallman (2004) Lung Surfactant, Respiratory Failure, and Genes. N. Engl. J. Med. 350(13), 1278-1280.
11. B.A. Nagourney, M.S. Kramer, M.A. Klebanoff and R.H. Usher (1996) Recurrent Respiratory Distress Syndrome in Successive Preterm Pregnancies. J. Pediatr. 129(4), 591-596.
12. N.C. Myrianthopoulos, J.A. Churchill and A.J. Baszynski (1971) Respiratory Distress Syndrome in Twins. Acta Genet. Med. Gemellol. (Roma) 20(2), 199-204.
13. L. van Sonderen, E.F. Halsema, E.J. Spiering and J.G. Koppe (2002) Genetic Influences in Respiratory Distress Syndrome: A Twin Study. Semin. Perinatol. 26(6), 447-449.
14. R. Marttila, R. Haataja, M. Ramet, J. Lofgren and M. Hallman (2003) Surfactant Protein B Polymorphism and Respiratory Distress Syndrome in Premature Twins. Hum. Genet. 112(1), 18-23.
15. R. Marttila, J. Kaprio and M. Hallman (2004) Respiratory Distress Syndrome in Twin Infants Compared with Singletons. Am. J. Obstet. Gynecol. 191(1), 271-276.
16. O. Levit, Y. Jiang, M.J. Bizzarro, N. Hussain, C.S. Buhimschi, J.R. Gruen, H. Zhang and V. Bhandari (2009) The Genetic Susceptibility to Respiratory Distress Syndrome. Pediatr. Res. 66(6), 693-697.
17. K. Yanamandra, J. Loggins and R.J. Baier (2004) The Angiotensin Converting Enzyme Insertion/Deletion Polymorphism is not Associated with an Increased Risk of Death or Bronchopulmonary Dysplasia in Ventilated Very Low Birth Weight Infants. BMC Pediatr. 4(1), 26.
18. S.N. Kazzi and M.W. Quasney (2005) Deletion Allele of Angiotensin-Converting Enzyme is Associated with Increased Risk and Severity of Bronchopulmonary Dysplasia. J. Pediatr. 147(6), 818-822.
19. G. Bokodi, L. Derzbach and B. Vasarhelyi (2006) Re: Deletion Allele of Angiotensin-Converting Enzyme. J. Pediatr. 149(4), 579. author reply 579–580
20. M.Z. Haider, L.V. Devarajan, M. Al-Essa and H. Kumar (2002) Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphism in Kuwaiti Children with Retinopathy of Prematurity. Biol. Neonate 82(2), 84-88.
21. J. Spiegler, A. Gilhaus, I.R. Konig, E. Kattner, M. Vochem, H. Kuster, J. Moller, D. Muller, A. Kribs, H. Segerer, et al. (2010) Polymorphisms in the Renin-Angiotensin System and Outcome of Very-Low-Birthweight Infants. Neonatology 97(1), 10-14.
22. C. Hartel, I. Konig, S. Koster, E. Kattner, E. Kuhls, H. Kuster, J. Moller, D. Muller, A. Kribs, H. Segerer, et al. (2006) Genetic Polymorphisms of Hemostasis Genes and Primary Outcome of Very Low Birth Weight Infants. Pediatrics 118(2), 683-689.
23. W. Göpel, L. Gortner, T. Kohlmann, C. Schultz and J. Moller (2001) Low Prevalence of Large Intraventricular Haemorrhage in Very Low Birthweight Infants Carrying The Factor V Leiden or Prothrombin G20210A Mutation. Acta Paediatr. 90(9), 1021-1024.
24. J. Petäjä, L. Hiltunen and V. Fellman (2001) Increased Risk of Intraventricular Hemorrhage in Preterm Infants with Thrombophilia. Pediatr. Res. 49(5), 643-646.
25. K. Komlosi, V. Havasi, J. Bene, J. Storcz, J. Stankovics, G. Mohay, J. Weisenbach, G. Kosztolanyi and B. Melegh (2005) Increased Prevalence of Factor V Leiden Mutation in Premature But Not in Full-Term Infants with Grade I Intracranial Haemorrhage. Biol. Neonate 87(1), 56-59.
26. W. Göpel, B. Christiansen, I. Reiss, J. Moller and L. Gortner (1999) Resistance to Activated Protein C in Newborns with Necrotizing Enterocolitis. Eur. J. Pediatr. 158(7), 608.
27. W. Göpel, E. Kattner, J. Seidenberg, T. Kohlmann, H. Segerer and J. Moller (2002) The Effect of the Val34Leu Polymorphism in the Factor XIII Gene in Infants with a Birth Weight Below 1500 g. J. Pediatr. 140(6), 688-692.
28. S. Aronis, H. Bouza, H. Pergantou, Z. Kapsimalis, H. Platokouki and M. Xanthou (2002) Prothrombotic Factors in Neonates with Cerebral Thrombosis and Intraventricular Hemorrhage. Acta Paediatr. Suppl. 91(438), 87-91.
29. A. Vannay, G. Dunai, I. Banyasz, M. Szabo, R. Vamos, A. Treszl, J. Hajdu, T. Tulassay and B. Vasarhelyi (2005) Association of Genetic Polymorphisms of Vascular Endothelial Growth Factor and Risk for Proliferative Retinopathy of Prematurity. Pediatr. Res. 57(3), 396-398.
30. I. Banyasz, G. Bokodi, A. Vannay, B. Szebeni, A. Treszl, B. Vasarhelyi, T. Tulassay and A. Szabo (2006) Genetic Polymorphisms of Vascular Endothelial Growth Factor and Angiopoietin 2 in Retinopathy of Prematurity. Curr. Eye Res. 31(7–8), 685-690.
31. I. Banyasz, G. Bokodi, B. Vasarhelyi, A. Treszl, L. Derzbach, A. Szabo, T. Tulassay and A. Vannay (2006) Genetic Polymorphisms for Vascular Endothelial Growth Factor in Perinatal Complications. Eur. Cytokine Netw. 17(4), 266-270.
32. P. Kwinta, M. Bik-Multanowski, Z. Mitkowska, T. Tomasik, M. Legutko and J.J. Pietrzyk (2008) Genetic Risk Factors of Bronchopulmonary Dysplasia. Pediatr. Res. 64(6), 682-688.
33. P. Kwinta, M. Bik-Multanowski, Z. Mitkowska, T. Tomasik and J.J. Pietrzyk (2008) The Clinical Role of Vascular Endothelial Growth Factor (VEGF) System in the Pathogenesis of Retinopathy of Prematurity. Graefes Arch. Clin. Exp. Ophthalmol. 246(10), 1467-1475.
34. B.S. Shastry and X. Qu (2007) Lack of Association of the VEGF Gene Promoter (-634 G–>C and -460 C–>T) Polymorphism and the Risk of Advanced Retinopathy of Prematurity. Graefes Arch. Clin. Exp. Ophthalmol. 245(5), 741-743.
35. R.W. Cooke, J.A. Drury, R. Mountford and D. Clark (2004) Genetic Polymorphisms and Retinopathy of Prematurity. Invest. Ophthalmol. Vis. Sci. 45(6), 1712-1715.
36. G. Bokodi, A. Treszl, L. Derzbach, A. Balogh and B. Vasarhelyi (2005) The Association of the Carrier State of the Tumor Necrosis Factor-Alpha (TNFalpha) -308A Allele with the Duration of Oxygen Supplementation in Preterm Neonates. Eur. Cytokine Netw. 16(1), 78-80.
37. R.J. Baier (2006) Genetics of Perinatal Brain Injury in the Preterm Infant. Front Biosci. 11 1371-1387.
38. G. Henderson, S. Craig, R.J. Baier, N. Helps, P. Brocklehurst and W. McGuire (2009) Cytokine Gene Polymorphisms in Preterm Infants with Necrotising Enterocolitis: Genetic Association Study. Arch. Dis. Child. Fetal Neonatal Ed. 94(2), F124-F128.
39. A. Treszl, E. Heninger, A. Kalman, A. Schuler, T. Tulassay and B. Vasarhelyi (2003) Lower Prevalence of IL-4 Receptor Alpha-Chain Gene G Variant in Very-Low-Birth-Weight Infants with Necrotizing Enterocolitis. J. Pediatr. Surg. 38(9), 1374-1378.
40. D.R. Harding, S. Dhamrait, A. Whitelaw, S.E. Humphries, N. Marlow and H.E. Montgomery (2004) Does Interleukin-6 Genotype Influence Cerebral Injury or Developmental Progress after Preterm Birth? Pediatrics 114(4), 941-947.
41. W. Göpel, C. Hartel, P. Ahrens, I. Konig, E. Kattner, E. Kuhls, H. Kuster, J. Moller, D. Muller, B. Roth, et al. (2006) Interleukin-6-174-Genotype, Sepsis and Cerebral Injury in Very Low Birth Weight Infants. Genes Immun. 7(1), 65-68.
42. D. Harding, D. Brull, S.E. Humphries, A. Whitelaw, H. Montgomery and N. Marlow (2005) Variation in the Interleukin-6 Gene is Associated with Impaired Cognitive Development in Children Born Prematurely: A Preliminary Study. Pediatr. Res. 58(1), 117-120.
43. M. Capasso, R.A. Avvisati, C. Piscopo, N. Laforgia, F. Raimondi, F. de Angelis and A. Iolascon (2007) Cytokine Gene Polymorphisms in Italian Preterm Infants: Association Between Interleukin-10 -1082 G/A Polymorphism and Respiratory Distress Syndrome. Pediatr. Res. 61(3), 313-317.
44. K. Yanamandra, P. Boggs, J. Loggins and R.J. Baier (2005) Interleukin-10 -1082 G/A Polymorphism and Risk of Death or Bronchopulmonary Dysplasia in Ventilated Very Low Birth Weight Infants. Pediatr. Pulmonol. 39(5), 426-432.
45. K. Adcock, C. Hedberg, J. Loggins, T.E. Kruger and R.J. Baier (2003) The TNF-alpha -308, MCP-1 -2518 and TGF-beta1 +915 Polymorphisms are Not Associated with the Development of Chronic Lung Disease in Very Low Birth Weight Infants. Genes Immun. 4(6), 420-426.
46. F.B. Atac, D.A. Ince, H. Verdi, Z. Gokmen, A.C. Yazici, H. Gulcan, A. Tarcan, A. Taneri, E. Sezgin and N. Ozbek (2010) Lack of Association Between FXIII-Val34Leu, FVII-323 Del/Ins, and Transforming Growth Factor Beta1 (915G/T) Gene Polymorphisms and Bronchopulmonary Dysplasia: A Single-Center Study. DNA Cell Biol. 29(1), 13-18.
47. S.N. Kazzi, U.O. Kim, M.W. Quasney and I. Buhimschi (2004) Polymorphism of Tumor Necrosis Factor-Alpha and Risk and Severity of Bronchopulmonary Dysplasia Among Very Low Birth Weight Infants. Pediatrics 114(2), e243-e248.
48. S.S. Strassberg, I.A. Cristea, D. Qian and L.A. Parton (2007) Single Nucleotide Polymorphisms of Tumor Necrosis Factor-Alpha and the Susceptibility to Bronchopulmonary Dysplasia. Pediatr. Pulmonol. 42(1), 29-36.
49. A. Heep, A.C. Schueller, E. Kattner, M. Kroll, J. Sander, M. Wisbauer, P. Bartmann and F. Stueber (2005) Association of Two Tumour Necrosis Factor Gene Polymorphisms with the Incidence of Severe Intraventricular Haemorrhage in Preterm Infants. J. Med. Genet. 42(7), 604-608.
50. R. Marttila, R. Haataja, M. Ramet, M.L. Pokela, O. Tammela and M. Hallman (2003) Surfactant Protein A Gene Locus and Respiratory Distress Syndrome in Finnish Premature Twin Pairs. Ann. Med. 35(5), 344-352.
51. R. Marttila, R. Haataja, S. Guttentag and M. Hallman (2003) Surfactant Protein A and B Genetic Variants in Respiratory Distress Syndrome in Singletons and Twins. Am. J. Respir. Crit. Care Med. 168(10), 1216-1222.
52. M. Ramet, R. Haataja, R. Marttila, J. Floros and M. Hallman (2000) Association Between the Surfactant Protein A (SP-A) Gene Locus and Respiratory-Distress Syndrome in the Finnish Population. Am. J. Hum. Genet. 66(5), 1569-1579.
53. R. Haataja, M. Ramet, R. Marttila and M. Hallman (2000) Surfactant Proteins A and B as Interactive Genetic Determinants of Neonatal Respiratory Distress Syndrome. Hum. Mol. Genet. 9(18), 2751-2760.
54. P. Kala, T. Ten Have, H. Nielsen, M. Dunn and J. Floros (1998) Association of Pulmonary Surfactant Protein A (SP-A) Gene and Respiratory Distress Syndrome: Interaction with SP-B. Pediatr. Res. 43(2), 169-177.
55. J. Floros, R. Fan, S. Diangelo, X. Guo, J. Wert and J. Luo (2001) Surfactant Protein (SP) B Associations and Interactions with SP-A in White and Black Subjects with Respiratory Distress Syndrome. Pediatr. Int. 43(6), 567-576.
56. R. Haataja, R. Marttila, P. Uimari, J. Lofgren, M. Ramet and M. Hallman (2001) Respiratory Distress Syndrome: Evaluation of Genetic Susceptibility and Protection by Transmission Disequilibrium Test. Hum. Genet. 109(3), 351-355.
57. B. Weber, A. Borkhardt, S. Stoll-Becker, I. Reiss and L. Gortner (2000) Polymorphisms of Surfactant Protein A Genes and the Risk of Bronchopulmonary Dysplasia in Preterm Infants. Turk. J. Pediatr. 42(3), 181-185.
58. P.P. Lyra, F.A. Vaz, P.E. Moreira, J.W. Hoffmann, D.E. Demello and E.M. Diniz (2007) Comparison of Surfactant Protein B Polymorphisms of Healthy Term Newborns with Preterm Newborns Having Respiratory Distress Syndrome. Braz. J. Med. Biol. Res. 40(6), 779-786.
59. V. Makri, B. Hospes, S. Stoll-Becker, A. Borkhardt and L. Gortner (2002) Polymorphisms of Surfactant Protein B Encoding Gene: Modifiers of the Course of Neonatal Respiratory Distress Syndrome? Eur. J. Pediatr. 161(11), 604-608.
60. M. Hallman, R. Marttila, R. Pertile, M. Ojaniemi and R. Haataja (2007) Genes and Environment in Common Neonatal Lung Disease. Neonatology 91(4), 298-302.
61. M. Rova, R. Haataja, R. Marttila, V. Ollikainen, O. Tammela and M. Hallman (2004) Data Mining and Multiparameter Analysis of Lung Surfactant Protein Genes in Bronchopulmonary Dysplasia. Hum. Mol. Genet. 13(11), 1095-1104.
62. B.S. Shastry (2007) Assessment of the Contribution of Insulin-Like Growth Factor I Receptor 3174 G-->A Polymorphism to the Progression of Advanced Retinopathy of Prematurity. Eur. J. Ophthalmol. 17(6), 950-953.
63. A. Balogh, A. Treszl, A. Vannay and B. Vasarhelyi (2006) A Prevalent Functional Polymorphism of Insulin-Like Growth Factor System is Not Associated with Perinatal Complications in Preterm Infants. Pediatrics 117(2), 591-592.
64. R.J. Rodriguez (2003) Management of Respiratory Distress Syndrome: An Update. Respir. Care 48(3), 279-286. discussion 286–287
65. A.E. Kopelman and O.P. Mathew (1995) Common Respiratory Disorders of the Newborn. Pediatr. Rev. 16(6), 209-217.
66. T.P. Stevens and R.A. Sinkin (2007) Surfactant Replacement Therapy. Chest 131(5), 1577-1582.
67. M. Hallman and R. Haataja (2006) Surfactant Protein Polymorphisms and Neonatal Lung Disease. Semin. Perinatol. 30(6), 350-361.
68. A. Hamvas, D.J. Wegner, C.S. Carlson, K.R. Bergmann, M.A. Trusgnich, L. Fulton, Y. Kasai, P. An, E.R. Mardis, R.K. Wilson, et al. (2007) Comprehensive Genetic Variant Discovery in the Surfactant Protein B Gene. Pediatr. Res. 62(2), 170-175.
69. M. Lahti, R. Marttila and M. Hallman (2004) Surfactant Protein C Gene Variation in the Finnish Population—Association with Perinatal Respiratory Disease. Eur. J. Hum. Genet. 12(4), 312-320.
70. J.A. Wambach, P. Yang, D.J. Wegner, P. An, B.P. Hackett, F.S. Cole and A. Hamvas (2010) Surfactant Protein-C Promoter Variants Associated with Neonatal Respiratory Distress Syndrome Reduce Transcription. Pediatr. Res. 68(3), 216-220.
71. A. Hilgendorff, K. Heidinger, A. Bohnert, A. Kleinsteiber, I.R. Konig, A. Ziegler, U. Lindner, G. Frey, C. Merz, B. Lettgen, et al. (2009) Association of Polymorphisms in the Human Surfactant Protein-D (SFTPD) Gene and Postnatal Pulmonary Adaptation in the Preterm Infant. Acta Paediatr. 98(1), 112-117.
72. N.J. Thomas, R. Fan, S. Diangelo, J.C. Hess and J. Floros (2007) Haplotypes of the Surfactant Protein Genes A and D as Susceptibility Factors for the Development of Respiratory Distress Syndrome. Acta Paediatr. 96(7), 985-989.
73. G. Bokodi, L. Derzbach, I. Banyasz, T. Tulassay and B. Vasarhelyi (2007) Association of Interferon Gamma T+874A and Interleukin 12 p40 Promoter CTCTAA/GC Polymorphism with the Need for Respiratory Support and Perinatal Complications in Low Birthweight Neonates. Arch. Dis. Child. Fetal Neonatal Ed. 92(1), F25-F29.
74. A. Fekete, A. Treszl, P. Toth-Heyn, A. Vannay, A. Tordai, T. Tulassay and B. Vasarhelyi (2003) Association Between Heat Shock Protein 72 Gene Polymorphism and Acute Renal Failure in Premature Neonates. Pediatr. Res. 54(4), 452-455.
75. A. Treszl, A. Kaposi, J. Hajdu, M. Szabo, T. Tulassay and B. Vasarhelyi (2007) The Extent to which Genotype Information may Add to the Prediction of Disturbed Perinatal Adaptation: None, Minor, or Major? Pediatr. Res. 62(5), 610-614.
76. M. Somaschini, L.M. Nogee, I. Sassi, O. Danhaive, S. Presi, R. Boldrini, C. Montrasio, M. Ferrari, S.E. Wert, P. Carrera, et al. (2007) Unexplained Neonatal Respiratory Distress Due To Congenital Surfactant Deficiency. J. Pediatr. 150(6), 649-653. 653 e1
77. M.K. Karjalainen, R. Haataja and M. Hallman (2008) Haplotype Analysis of ABCA3: Association with Respiratory Distress in Very Premature Infants. Ann. Med. 40(1), 56-65.
78. V. Pulkkinen, R. Haataja, U. Hannelius, O. Helve, O.M. Pitkanen, R. Karikoski, M. Rehn, R. Marttila, C.M. Lindgren, J. Hastbacka, et al. (2006) G Protein-Coupled Receptor for Asthma Susceptibility Associates with Respiratory Distress Syndrome. Ann. Med. 38(5), 357-366.
79. D. Hayes Jr., D.J. Feola, B.S. Murphy, L.A. Shook and H.O. Ballard (2010) Pathogenesis of Bronchopulmonary Dysplasia. Respiration 79(5), 425-436.
80. P.R. Chess, C.T. D’Angio, G.S. Pryhuber and W.M. Maniscalco (2006) Pathogenesis of Bronchopulmonary Dysplasia. Semin. Perinatol. 30(4), 171-178.
81. J.J. Coalson (2006) Pathology of Bronchopulmonary Dysplasia. Semin. Perinatol. 30(4), 179-184.
82. A. Bhandari and V. Bhandari (2009) Pitfalls, Problems, and Progress in Bronchopulmonary Dysplasia. Pediatrics 123(6), 1562-1573.
83. A.A. Fanaroff, B.J. Stoll, L.L. Wright, W.A. Carlo, R.A. Ehrenkranz, A.R. Stark, C.R. Bauer, E.F. Donovan, S.B. Korones, A.R. Laptook, et al. (2007) Trends in Neonatal Morbidity and Mortality for Very Low Birthweight Infants. Am. J. Obstet. Gynecol. 196(2), 147. e1–e8
84. L.J. van Marter (2009) Epidemiology of Bronchopulmonary Dysplasia. Semin. Fetal Neonatal Med. 14(6), 358-366.
85. R.A. Parker, D.P. Lindstrom and R.B. Cotton (1996) Evidence from Twin Study Implies Possible Genetic Susceptibility to Bronchopulmonary Dysplasia. Semin. Perinatol. 20(3), 206-209.
86. V. Bhandari, M.J. Bizzarro, A. Shetty, X. Zhong, G.P. Page, H. Zhang, L.R. Ment and J.R. Gruen (2006) Familial and Genetic Susceptibility to Major Neonatal Morbidities in Preterm Twins. Pediatrics 117(6), 1901-1906.
87. P.M. Lavoie, C. Pham and K.L. Jang (2008) Heritability of Bronchopulmonary Dysplasia, Defined According to the Consensus Statement of the National Institutes of Health. Pediatrics 122(3), 479-485.
88. R.K. Margana and V. Boggaram (1997) Functional Analysis of Surfactant Protein B (SP-B) Promoter. Sp1, Sp3, TTF-1, and HNF-3alpha Transcription Factors are Necessary for Lung Cell-Specific Activation of SP-B Gene Transcription. J. Biol. Chem. 272(5), 3083-3090.
89. Z. Lin, N.J. Thomas, Y. Wang, X. Guo, C. Seifart, H. Shakoor and J. Floros (2005) Deletions Within a CA-Repeat-Rich Region of Intron 4 of the Human SP-B Gene Affect mRNA Splicing. Biochem. J. 389(Pt 2), 403-412.
90. J. Pavlovic, C. Papagaroufalis, M. Xanthou, W. Liu, R. Fan, N.J. Thomas, I. Apostolidou, E. Papathoma, E. Megaloyianni, S. DiAngelo, et al. (2006) Genetic Variants of Surfactant Proteins A, B, C, and D in Bronchopulmonary Dysplasia. Dis. Markers 22(5–6), 277-291.
91. Y. Suzuki, M. Ruiz-Ortega, O. Lorenzo, M. Ruperez, V. Esteban and J. Egido (2003) Inflammation and Angiotensin II. Int. J. Biochem. Cell Biol. 35(6), 881-900.
92. B. Thebaud, F. Ladha, E.D. Michelakis, M. Sawicka, G. Thurston, F. Eaton, K. Hashimoto, G. Harry, A. Haromy, G. Korbutt, et al. (2005) Vascular Endothelial Growth Factor Gene Therapy Increases Survival, Promotes Lung Angiogenesis, and Prevents Alveolar Damage in Hyperoxia-Induced Lung Injury: Evidence that Angiogenesis Participates in Alveolarization. Circulation 112(16), 2477-2486.
93. H.C. Lin, B.H. Su, J.S. Chang, C.M. Hsu, C.H. Tsai and F.J. Tsai (2005) Nonassociation of Interleukin 4 Intron 3 and 590 Promoter Polymorphisms with Bronchopulmonary Dysplasia for Ventilated Preterm Infants. Biol. Neonate 87(3), 181-186.
94. R.J. Baier, A. Majid, H. Parupia, J. Loggins and T.E. Kruger (2004) CC Chemokine Concentrations Increase in Respiratory Distress Syndrome and Correlate with Development of Bronchopulmonary Dysplasia. Pediatr. Pulmonol. 37(2), 137-148.
95. E. Capoluongo, G. Vento, S. Rocchetti, E. Giardina, P. Concolino, C. Sinibaldi, C. Santonocito, V. Vendettuoli, M. Tana, C. Tirone, et al. (2007) Mannose-Binding Lectin Polymorphisms and Pulmonary Outcome in Premature Neonates: A Pilot Study. Intensive Care Med. 33(10), 1787-1794.
96. A. Hilgendorff, K. Heidinger, A. Pfeiffer, A. Bohnert, I.R. Konig, A. Ziegler, C. Merz, G. Frey, T. Chakraborty, L. Gortner, et al. (2007) Association of Polymorphisms in the Mannose-Binding Lectin Gene and Pulmonary Morbidity in Preterm Infants. Genes Immun. 8(8), 671-677.
97. G. Prencipe, C. Auriti, R. Inglese, R. Devito, M.P. Ronchetti, G. Seganti, L. Rava, M. Orzalesi and F. De Benedetti (2010) A Polymorphism in the Macrophage Migration Inhibitory Factor Promoter is Associated with Bronchopulmonary Dysplasia. Pediatr. Res.
98. A.G. Vicencio, C.G. Lee, S.J. Cho, O. Eickelberg, Y. Chuu, G.G. Haddad and J.A. Elias (2004) Conditional Overexpression of Bioactive Transforming Growth Factor-Beta1 in Neonatal Mouse Lung: A New Model for Bronchopulmonary Dysplasia? Am. J. Respir. Cell Mol. Biol. 31(6), 650-656.
99. B. Jonsson, K. Tullus, A. Brauner, Y. Lu and G. Noack (1997) Early Increase of TNF Alpha and IL-6 in Tracheobronchial Aspirate Fluid Indicator of Subsequent Chronic Lung Disease in Preterm Infants. Arch. Dis. Child. Fetal Neonatal Ed. 77(3), F198-F201.
100. M. Chauhan, S. Bombell and W. McGuire (2009) Tumour Necrosis Factor (–308A) Polymorphism in Very Preterm Infants with Bronchopulmonary Dysplasia: A Meta-analysis. Arch. Dis. Child. Fetal Neonatal Ed. 94(4), F257-F259.
101. P. Concolino, E. Capoluongo, C. Santonocito, G. Vento, M. Tana, C. Romagnoli, C. Zuppi, F. Ameglio, A. Brancaccio and F. Sciandra (2007) Genetic Analysis of the Dystroglycan Gene in Bronchopulmonary Dysplasia Affected Premature Newborns. Clin. Chim. Acta 378(1–2), 164-167.
102. M.H. Manar, M.R. Brown, T.W. Gauthier and L.A. Brown (2004) Association of Glutathione-S-Transferase-P1 (GST-P1) Polymorphisms with Bronchopulmonary Dysplasia. J. Perinatol. 24(1), 30-35.
103. A. Hellstrom, E. Engstrom, A.L. Hard, K. Albertsson-Wikland, B. Carlsson, A. Niklasson, C. Lofqvist, Svensson, E., S. Holm, U. Ewald, et al. (2003) Postnatal Serum Insulin-Like Growth Factor I Deficiency is Associated with Retinopathy of Prematurity and other Complications of Premature Birth. Pediatrics 112(5), 1016-1020.
104. A. Chetty, S. Andersson, P. Lassus and H.C. Nielsen (2004) Insulin-Like Growth Factor-1 (IGF-1) and IGF-1 Receptor (IGF-1R) Expression in Human Lung in RDS and BPD. Pediatr. Pulmonol. 37(2), 128-136.
105. A. Hadchouel, F. Decobert, M.L. Franco-Montoya, I. Halphen, P.H. Jarreau, O. Boucherat, E. Martin, A. Benachi, S. Amselem, J. Bourbon, et al. (2008) Matrix Metalloproteinase Gene Polymorphisms and Bronchopulmonary Dysplasia: Identification of MMP16 as a New Player in Lung Development. PLoS One 3(9), e3188.
106. H.C. Lin, B.H. Su, T.W. Lin, C.M. Hsu, L. Wan, C.H. Tsai and F.J. Tsai (2004) No Association of Urokinase Gene 3’-UTR Polymorphism with Bronchopulmonary Dysplasia for Ventilated Preterm Infants. Acta Paediatr. Taiwan 45(6), 315-319.
107. E.R. Hermes-DeSantis and R.I. Clyman (2006) Patent Ductus Arteriosus: Pathophysiology and Management. J. Perinatol. 26(Suppl. 1), S14-S18. discussion S22–S23
108. R. Bokenkamp, M.C. DeRuiter, C. van Munsteren and A.C. Gittenberger-de Groot (2010) Insights into the Pathogenesis and Genetic Background of Patency of the Ductus Arteriosus. Neonatology 98(1), 6-17.
109. J. Wyllie (2003) Treatment of Patent Ductus Arteriosus. Semin. Neonatol. 8(6), 425-432.
110. C. Morris (2001) Epidemiology of Congenital Heart Disease. M. Crawford, J. Di Marco (Eds) Cardiology London: Mosby 1.1-1.8.
111. L.C. Lee, A. Tillett, R. Tulloh, R. Yates and W. Kelsall (2006) Outcome Following Patent Ductus Arteriosus Ligation in Premature Infants: A Retrospective Cohort Analysis. BMC Pediatr. 6 15.
112. B. Schmidt, R.S. Roberts, A. Fanaroff, P. Davis, H.M. Kirpalani, C. Nwaesei and M. Vincer (2006) Indomethacin Prophylaxis, Patent Ductus Arteriosus, and the Risk of Bronchopulmonary Dysplasia: Further Analyses From the Trial of Indomethacin Prophylaxis in Preterms (TIPP). J. Pediatr. 148(6), 730-734.
113. J.D. Horbar (1995) The Vermont-Oxford Neonatal Network: Integrating Research and Clinical Practice to Improve the Quality of Medical Care. Semin. Perinatol. 19(2), 124-131.
114. V. Bhandari, G. Zhou, M.J. Bizzarro, C. Buhimschi, N. Hussain, J.R. Gruen and H. Zhang (2009) Genetic Contribution to Patent Ductus Arteriosus in the Premature Newborn. Pediatrics 123(2), 669-673.
115. L. Derzbach, A. Treszl, A. Balogh, B. Vasarhelyi, T. Tulassay and J.J. Rigo (2005) Gender Dependent Association Between Perinatal Morbidity and Estrogen Receptor-Alpha Pvull Polymorphism. J. Perinat. Med. 33(5), 461-462.
116. J.M. Dagle, N.T. Lepp, M.E. Cooper, K.L. Schaa, K.J. Kelsey, K.L. Orr, D. Caprau, C.R. Zimmerman, K.M. Steffen, K.J. Johnson, et al. (2009) Determination of Genetic Predisposition to Patent Ductus Arteriosus in Preterm Infants. Pediatrics 123(4), 1116-1123.
117. A. Treszl, M. Szabo, G. Dunai, A. Nobilis, I. Kocsis, T. Machay, T. Tulassay and B. Vasarhelyi (2003) Angiotensin II Type 1 Receptor A1166C Polymorphism and Prophylactic Indomethacin Treatment Induced Ductus Arteriosus Closure in Very Low Birth Weight Neonates. Pediatr. Res. 54(5), 753-755.
118. X. Durrmeyer, S. Hovhannisyan, Y. Medard, E. Jacqz-Aigrain, F. Decobert, J. Barre, C. Alberti, Y. Aujard, C. Danan and O. Baud (2010) Are Cytochrome P450 CYP2C8 and CYP2C9 Polymorphisms Associated with Ibuprofen Response in Very Preterm Infants? PLoS One 5(8), e12329.
119. A. Whitelaw (2011) Core Concepts: Intraventricular Hemorrhage. Neoreviews 12(2), e94-e101.
120. H.J. McCrea and L.R. Ment (2008) The Diagnosis, Management, and Postnatal Prevention of Intraventricular Hemorrhage in the Preterm Neonate. Clin. Perinatol. 35(4), 777-792. vii
121. J.J. Volpe (2009) Brain Injury in Premature Infants: A Complex Amalgam of Destructive and Developmental Disturbances. Lancet Neurol. 8(1), 110-124.
122. R.M. Viscardi, S.M. Donn, W.F. Rayburn and M.A. Schork (1988) Intraventricular Hemorrhage in Preterm Twin Gestation Infants. J. Perinatol. 8(2), 114-117.
123. J.M. Perlman, R.S. Broyles and C.G. Rogers (1997) Neonatal Neurologic Characteristics of Preterm Twin Infants <1250 gm Birth Weight. Pediatr. Neurol. 17(4), 322-326.
124. L.A. Ramenghi, M. Fumagalli, A. Righini, F. Triulzi, A. Kustermann and F. Mosca (2005) Thrombophilia and Fetal Germinal Matrix-Intraventricular Hemorrhage: Does it Matter? Ultrasound Obstet. Gynecol. 26(5), 574-576.
125. D.B. Gould, F.C. Phalan, S.E. van Mil, J.P. Sundberg, K. Vahedi, P. Massin, M.G. Bousser, P. Heutink, J.H. Miner, E. Tournier-Lasserve, et al. (2006) Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke. N. Engl. J. Med. 354(14), 1489-1496.
126. K. Bilguvar, M.L. DiLuna, M.J. Bizzarro, Y. Bayri, K.C. Schneider, R.P. Lifton, M. Gunel and L.R. Ment (2009) COL4A1 Mutation in Preterm Intraventricular Hemorrhage. J. Pediatr. 155(5), 743-745.
127. L.S. de Vries, C. Koopman, F. Groenendaal, M. van Schooneveld, F.W. Verheijen, E. Verbeek, T.D. Witkamp, H.B. van der Worp and G. Mancini (2009) COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage. Ann. Neurol. 65(1), 12-18.
128. K. Yanamandra, J. Loggins and R.J. Baier (2005) Interleukin-4 -590 C/T Polymorphism and Outcome in Very Low Birth Weight Infants. PAS
129. P. Vannemreddy, C. Notarianni, K. Yanamandra, D. Napper and J. Bocchini (2010) Is an Endothelial Nitric Oxide Synthase Gene Mutation a Risk Factor in the Origin of Intraventricular Hemorrhage? Neurosurg. Focus 28(1), E11.
130. B.W. Fleck and N. McIntosh (2009) Retinopathy of Prematurity: Recent Developments. Neoreviews 10(1), e20-e30.
131. G. Heidary, C. Lofqvist, I.S. Mantagos, D.K. Vanderveen, A. Hellstrom and L.E. Smith (2009) Retinopathy of Prematurity: Clinical Insights from Molecular Studies. Neoreviews 10(11), e550-e557.
132. B.A. Darlow, J.L. Hutchinson, D.J. Henderson-Smart, D.A. Donoghue, J.M. Simpson and N.J. Evans (2005) Prenatal Risk Factors for Severe Retinopathy of Prematurity Among Very Preterm Infants of the Australian and New Zealand Neonatal Network. Pediatrics 115(4), 990-996.
133. W.V. Good, R.J. Hardy, V. Dobson, E.A. Palmer, D.L. Phelps, M. Quintos and B. Tung (2005) The Incidence and Course of Retinopathy of Prematurity: Findings From the Early Treatment for Retinopathy of Prematurity Study. Pediatrics 116(1), 15-23.
134. J.B. Fortes Filho, G.U. Eckert, F.B. Valiatti, P.G. Dos Santos, M.C. da Costa and R.S. Procianoy (2010) The Influence of Gestational Age on the Dynamic Behavior of Other Risk Factors Associated with Retinopathy of Prematurity (ROP). Graefes Arch. Clin. Exp. Ophthalmol. 248(6), 893-900.
135. G. Holmstrom, P. van Wijngaarden, D.J. Coster and K.A. Williams (2007) Genetic Susceptibility to Retinopathy of Prematurity: The Evidence from Clinical and Experimental Animal Studies. Br. J. Ophthalmol. 91(12), 1704-1708.
136. R. Azad, P. Chandra, S.D. Patwardhan and A. Gupta (2010) Profile of Asymmetrical Retinopathy of Prematurity in Twins. Indian J. Ophthalmol. 58(3), 209-211.
137. M.J. Bizzarro, N. Hussain, B. Jonsson, R. Feng, L.R. Ment, J.R. Gruen, H. Zhang and V. Bhandari (2006) Genetic Susceptibility to Retinopathy of Prematurity. Pediatrics 118(5), 1858-1863.
138. M. Hiraoka, D.M. Berinstein, M.T. Trese and B.S. Shastry (2001) Insertion and Deletion Mutations in the Dinucleotide Repeat Region of the Norrie Disease Gene in Patients with Advanced Retinopathy of Prematurity. J. Hum. Genet. 46(4), 178-181.
139. B.S. Shastry, S.D. Pendergast, M.K. Hartzer, X. Liu and M.T. Trese (1997) Identification of Missense Mutations in the Norrie Disease Gene Associated with Advanced Retinopathy of Prematurity. Arch. Ophthalmol. 115(5), 651-655.
140. S.J. Talks, N. Ebenezer, P. Hykin, G. Adams, F. Yang, E. Schulenberg, K. Gregory-Evans and C.Y. Gregory-Evans (2001) De Novo Mutations in the 5’ Regulatory Region of the Norrie Disease Gene in Retinopathy of Prematurity. J. Med. Genet. 38(12), E46.
141. K.A. Hutcheson, P.C. Paluru, S.L. Bernstein, J. Koh, E.F. Rappaport, R.A. Leach and T.L. Young (2005) Norrie Disease Gene Sequence Variants in an Ethnically Diverse Population with Retinopathy of Prematurity. Mol. Vis. 11 501-508.
142. J.H. Kim, Y.S. Yu, J. Kim and S.S. Park (2002) Mutations of the Norrie Gene in Korean ROP Infants. Korean J. Ophthalmol. 16(2), 93-96.
143. M.Z. Haider, L.V. Devarajan, M. Al-Essa, B.S. Srivastva, H. Kumar, R. Azad and N. Rashwan (2000) Missense Mutations in Norrie Disease Gene are Not Associated with Advanced Stages of Retinopathy of Prematurity in Kuwaiti Arabs. Biol. Neonate 77(2), 88-91.
144. M.Z. Haider, L.V. Devarajan, M. Al-Essa, B.S. Srivastva, H. Kumar, R. Azad and N. Rashwan (2001) Retinopathy of Prematurity: Mutations in the Norrie Disease Gene and the Risk of Progression to Advanced Stages. Pediatr. Int. 43(2), 120-123.
145. M.Z. Haider, L.V. Devarajan, M. Al-Essa and H. Kumar (2002) A C597–>A Polymorphism in the Norrie Disease Gene is Associated with Advanced Retinopathy of Prematurity in Premature Kuwaiti Infants. J. Biomed. Sci. 9(4), 365-370.
146. J.L. Dickinson, M.M. Sale, A. Passmore, L.M. FitzGerald, C.M. Wheatley, K.P. Burdon, J.E. Craig, S. Tengtrisorn, S.M. Carden, H. Maclean, et al. (2006) Mutations in the NDP Gene: Contribution to Norrie Disease, Familial Exudative Vitreoretinopathy and Retinopathy of Prematurity. Clin. Exp. Ophthalmol. 34(7), 682-688.
147. B.S. Shastry (2010) Genetic Susceptibility to Advanced Retinopathy of Prematurity (ROP). J. Biomed. Sci. 17 69.
148. S. Mohamed, K. Schaa, M.E. Cooper, E. Ahrens, A. Alvarado, T. Colaizy, M.L. Marazita, J.C. Murray and J.M. Dagle (2009) Genetic Contributions to the Development of Retinopathy of Prematurity. Pediatr. Res. 65(2), 193-197.
149. K. Rusai, A. Vannay, B. Szebeni, G. Borgulya, A. Fekete, B. Vasarhelyi, T. Tulassay and A.J. Szabo (2008) Endothelial Nitric Oxide Synthase Gene T-786C and 27-bp Repeat Gene Polymorphisms in Retinopathy of Prematurity. Mol. Vis. 14 286-290.
150. A. Balogh, L. Derzbach, A. Vannay and B. Vasarhelyi (2006) Lack of Association Between Insulin-Like Growth Factor I Receptor G(+3174)A Polymorphism and Retinopathy of Prematurity. Graefes Arch. Clin. Exp. Ophthalmol. 244(8), 1035-1038.
151. B.S. Shastry (2009) Lack of Association of VEGF (-2578 C–>A) and ANG 2 (-35 G–>C) Gene Polymorphisms with the Progression of Retinopathy of Prematurity. Graefes Arch. Clin. Exp. Ophthalmol. 247(6), 859-860.
152. G. Dunai, B. Vasarhelyi, M. Szabo, J. Hajdu, G. Meszaros, T. Tulassay and A. Treszl (2008) Published Genetic Variants in Retinopathy of Prematurity: Random Forest Analysis Suggests a Negligible Contribution to Risk and Severity. Curr. Eye Res. 33(5), 501-505.
153. J. Neu and W.A. Walker (2011) Necrotizing Enterocolitis. N. Engl. J. Med. 364(3), 255-264.
154. R.C. Holman, B.J. Stoll, A.T. Curns, K.L. Yorita, C.A. Steiner and L.B. Schonberger (2006) Necrotising Enterocolitis Hospitalisations Among Neonates in the United States. Paediatr. Perinat. Epidemiol. 20(6), 498-506.
155. J.D. Horbar, G.J. Badger, J.H. Carpenter, A.A. Fanaroff, S. Kilpatrick, M. LaCorte, R. Phibbs and R.F. Soll (2002) Trends in Mortality and Morbidity for Very Low Birth Weight Infants, 1991–1999. Pediatrics 110(1 Pt 1), 143-151.
156. W. McGuire and M.Y. Anthony (2003) Donor Human Milk Versus Formula for Preventing Necrotising Enterocolitis in Preterm Infants: Systematic Review. Arch. Dis. Child. Fetal Neonatal Ed. 88(1), F11-F14.
157. N. Jesse and J. Neu (2006) Necrotizing Enterocolitis: Relationship to Innate Immunity, Clinical Features, and Strategies for Prevention. Neoreviews 7(3), e143-e150.
158. S.C. Fitzgibbons, Y. Ching, D. Yu, J. Carpenter, M. Kenny, C. Weldon, C. Lillehei, C. Valim, J.D. Horbar and T. Jaksic (2009) Mortality of Necrotizing Enterocolitis Expressed by Birth Weight Categories. J. Pediatr. Surg. 44(6), 1072-1075. discussion 1075–1076
159. R.M. Moonen, A.D. Paulussen, N.Y. Souren, A.G. Kessels, M.E. Rubio-Gozalbo and E. Villamor (2007) Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis. Pediatr. Res. 62(2), 188-190.