Espinha bífida e defeitos do tubo neural


Principais artigos

US Preventive Services Task Force; Bibbins-Domingo K, Grossman DC, Curry SJ, et al. Folic acid supplementation for the prevention of neural tube defects: US Preventive Services Task Force recommendation statement. JAMA. 2017 Jan 10;317(2):183-9.Texto completo  Resumo

Douglas Wilson R, Van Mieghem T, Langlois S, et al. Guideline no. 410: prevention, screening, diagnosis, and pregnancy management for fetal neural tube defects. J Obstet Gynaecol Can. 2021 Jan;43(1):124-39.e8.Texto completo  Resumo

AIUM-ACR-ACOG-SMFM-SRU Practice Parameter for the performance of standard diagnostic obstetric ultrasound examinations. J Ultrasound Med. 2018 Nov;37(11):E13-24.Texto completo  Resumo

Spina Bifida Association. Guidelines for the care of people with spina bifida. 2018 [internet publication].Texto completo

Adzick NS, Thom EA, Spong CY, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011 Mar 17;364(11):993-1004.Texto completo  Resumo

Grivell RM, Andersen C, Dodd JM. Prenatal versus postnatal repair procedures for spina bifida for improving infant and maternal outcomes. Cochrane Database Syst Rev. 2014 Oct 28;(10):CD008825.Texto completo  Resumo

Artigos de referência

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17. Cragan JD, Robert HE, Edmonds LD, et al. Surveillance for anencephaly and spina bifida and the impact of prenatal diagnosis - United States, 1985-1994. MMWR CDC Surveill Summ. 1995 Aug 25;44(4):1-13.Texto completo  Resumo

18. Williams J, Mai CT, Mulinare J, et al. Updated estimates of neural tube defects prevented by mandatory folic acid fortification - United States, 1995-2011. MMWR Morb Mortal Wkly Rep. 2015 Jan 16;64(1):1-5.Texto completo  Resumo

19. De Wals P, Tairou F, Van Allen MI, et al. Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med. 2007 Jul 12;357(2):135-42.Texto completo  Resumo

20. Boulet SL, Yang Q, Mai C, et al. Trends in the postfortification prevalence of spina bifida and anencephaly in the United States. Birth Defects Res A Clin Mol Teratol. 2008 Jul;82(7):527-32. Resumo

21. Field MS, Stover PJ. Safety of folic acid. Ann N Y Acad Sci. 2018 Feb;1414(1):59-71.Texto completo  Resumo

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23. Morris MS, Jacques PF, Rosenberg IH, et al. Folate and vitamin B-12 status in relation to anemia, macrocytosis, and cognitive impairment in older Americans in the age of folic acid fortification. Am J Clin Nutr. 2007 Jan;85(1):193-200.Texto completo  Resumo

24. Kennedy DA, Stern SJ, Moretti M, et al. Folate intake and the risk of colorectal cancer: a systematic review and meta-analysis. Cancer Epidemiol. 2011 Feb;35(1):2-10. Resumo

25. Bell KN, Oakley GP Jr. Update on prevention of folic acid-preventable spina bifida and anencephaly. Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):102-7. Resumo

26. Khoshnood B, Loane M, de Walle H, et al. Long term trends in prevalence of neural tube defects in Europe: population based study. BMJ. 2015 Nov 24;351:h5949.Texto completo  Resumo

27. Moore LL, Singer MR, Bradlee ML, et al. A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology. 2000 Nov;11(6):689-94. Resumo

28. Farrell T, Neale L, Cundy T. Congenital anomalies in the offspring of women with type 1, type 2 and gestational diabetes. Diab Med. 2002 Apr;19(4):322-6. Resumo

29. Watkins ML, Rasmussen SA, Honein MA, et al. Maternal obesity and risk for birth defects. Pediatrics. 2003 May;111(5 Pt 2):1152-8. Resumo

30. Shaw GM, Quach T, Nelson V, et. al. Neural tube defects associated with maternal periconceptional dietary intake of simple sugars and glycemic index. Am J Clin Nutr. 2003 Nov;78(5):972-8.Texto completo  Resumo

31. Botto LD, Lisi A, Robert-Gnansia E, et al. International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? 2005 Mar 12;330(7491):571.Texto completo  Resumo

32. Inskip HM, Crozier SR, Godfrey KM. Women's compliance with nutrition and lifestyle recommendations before pregnancy: general population cohort study. BMJ. 2009 Feb 12;338:b481.Texto completo  Resumo

33. Mitchell LE, Adzick NS, Melchionne J, et al. Spina bifida. Lancet. 2004 Nov 20-26;364(9448):1885-95. Resumo

34. Canfield MA, Ramadhani TA, Shaw GM. Anencephaly and spina bifida among Hispanics: maternal, sociodemographic, and acculturation factors in the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2009 Jul;85(7):637-46. Resumo

35. Au KS, Tran PX, Tsai CC, et al. Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals. Birth Defects Res A Clin Mol Teratol. 2008 Oct;82(10):692-700.Texto completo  Resumo

36. Hall JG, Solehdin F. Genetics of neural tube defects. Ment Retard Dev Disabil Res Rev. 1998;4:269-81.

37. Ornoy A. Neuroteratogens in man: an overview with special emphasis on the teratogenicity of anti-epileptic drugs in pregnancy. Reprod Toxicol. 2006 Aug;22(2):214-26. Resumo

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39. Becerra JE, Khoury MJ, Cordero JF, et al. Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based care-control study. Pediatrics. 1990 Jan;85(1):1-9. Resumo

40. Wasserman CR, Shaw GM, Selvin S, et al. Socioeconomic status, neighborhood social conditions, and neural tube defects. Am J Public Health. 1998 Nov;88(11):1674-80.Texto completo  Resumo

41. Suarez L, Felker M, Hendricks K. The effect of fever, febrile illnesses, and heat exposure on the risk of neural tube defects in a Texas-Mexico population. Birth Defects Res A Clin Mol Teratol. 2004 Oct;70(10):815-9. Resumo

42. Smithells RW, Sheppard S, Schorah CJ. Vitamin deficiencies and neural tube defects. Arch Dis Child. 1976 Dec;51(12):944-50.Texto completo  Resumo

43. Smithells RW, Nevin NC, Seller MJ, et al. Further experience of vitamin supplementation for prevention of neural tube defect occurrence. Lancet. 1983 May 7;1(8332):1027-31. Resumo

44. Mulinare J, Cordero JF, Erickson JD, et al. Periconceptional use of multivitamins and the occurrence of neural tube defects. JAMA. 1988 Dec 2;260(21):3141-5. Resumo

45. Suarez L, Hendricks K, Felkner M, et al. Maternal serum vitamin B12 levels and risk for neural tube defects in a Texas-Mexico border population. Ann Epidemiol. 2003 Feb;13(2):81-8. Resumo

46. Boyles AL, Hammock P, Speer MC. Candidate gene analysis in human neural tube defects. Am J Med Genet C Semin Med Genet. 2005 May 15;135C(1):9-23.Texto completo  Resumo

47. Davidson CM, Northrup H, King TM, et al. Genes in glucose metabolism and association with spina bifida. Reprod Sci. 2008 Jan;15(1):51-8.Texto completo  Resumo

48. Williams H. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida. Cerebrospinal Fluid Res. 2008 Apr 11;5:7.Texto completo  Resumo

49. de Wit OA, den Dunnen WF, Sollie KM, et al. Pathogenesis of cerebral malformations in human fetuses with meningomyelocele. Cerebrospinal Fluid Res. 2008 Mar 1;5:4.Texto completo  Resumo

50. Hasan KM, Eluvathingal TJ, Kramer LA, et al. White matter microstructural abnormalities in children with spina bifida myelomeningocele and hydrocephalus: a diffusion tensor tractography study of the association pathways. J Magn Reson Imaging. 2008 Apr;27(4):700-9.Texto completo  Resumo

51. Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009 Oct 15;18(R2):R113-29.Texto completo  Resumo

52. Ross ME. Gene-environment interactions, folate metabolism and the embryonic nervous system. Wiley Interdiscip Rev Syst Biol Med. 2010 Jul-Aug;2(4):471-80.Texto completo  Resumo

53. US Preventive Services Task Force; Bibbins-Domingo K, Grossman DC, Curry SJ, et al. Folic acid supplementation for the prevention of neural tube defects: US Preventive Services Task Force recommendation statement. JAMA. 2017 Jan 10;317(2):183-9.Texto completo  Resumo

54. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council vitamin study. Lancet. 1991 Jul 20;338(8760):131-7. Resumo

55. Centers for Disease Control. Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. MMWR Recomm Rep. 1992 Sep 11;41(RR-14):1-7.Texto completo  Resumo

56. Chen CP. Syndromes, disorders and maternal risk factors associated with neural tube defects (I). Taiwan J Obstet Gynecol. 2008 Mar;47(1):1-9.Texto completo  Resumo

57. Melvin EC, George TM, Worley G, et al. Genetic studies in neural tube defects. NTD Collaborative Group. Pediatr Neurosurg. 2000 Jan;32(1):1-9. Resumo

58. Hall JG, Friedman JM, Kenna BA, et al. Clinical, genetic, and epidemiological factors in neural tube defects. Am J Hum Genet. 1988 Dec;43(6):827-37.Texto completo  Resumo

59. Meador KJ, Baker GA, Browning N, et al. Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. N Engl J Med. 2009 Apr 16;360(16):1597-605. Resumo

60. Stothard KJ, Tennant PW, Bell R, et al. Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis. JAMA. 2009 Feb 11;301(6):636-50. Resumo

61. Chen CP. Maternal diabetes and neural tube defects: prenatal diagnosis of lumbosacral myelomeningocele, ventriculomegaly, Arnold-Chiari malformation, and foot deformities in a pregnancy with poor maternal metabolic control, and review of the literature. Genet Couns. 2005;16(3):313-6. Resumo

62. Douglas Wilson R, Van Mieghem T, Langlois S, et al. Guideline no. 410: prevention, screening, diagnosis, and pregnancy management for fetal neural tube defects. J Obstet Gynaecol Can. 2021 Jan;43(1):124-39.e8.Texto completo  Resumo

63. Centers for Disease Control and Prevention (CDC). Spina bifida and anencephaly before and after folic acid mandate - United States, 1995-1996 and 1999-2000. MMWR Morb Mortal Wkly Rep. 2004 May 7;53(17):362-5.Texto completo  Resumo

64. Centeno Tablante E, Pachón H, Guetterman HM, et al. Fortification of wheat and maize flour with folic acid for population health outcomes. Cochrane Database Syst Rev. 2019 Jul 1;(7):CD012150.Texto completo  Resumo

65. Mills JL, Signore CC. Folic acid and the prevention of neural tube defects. N Engl J Med. 2004 May 20;350(21):2209-11. Resumo

66. National Institute for Health and Care Excellence. Fertility problems: assessment and treatment Clinical guideline [CG156]. September 2017 [internet publication].Texto completo

67. Mehta TS, Levine D. Imaging of fetal cerebral ventriculomegaly: a guide to management and outcome. Semin Fetal Neonatal Med. 2005 Oct;10(5):421-8. Resumo

68. Blaicher W, Mittermayer C, Messerschmidt A. Fetal skeletal deformities - the diagnostic accuracy of prenatal ultrasonography and fetal magnetic resonance imaging. Ultraschall Med. 2004 Jun;25(3):195-9. Resumo

69. AIUM-ACR-ACOG-SMFM-SRU Practice Parameter for the performance of standard diagnostic obstetric ultrasound examinations. J Ultrasound Med. 2018 Nov;37(11):E13-24.Texto completo  Resumo

70. Norem CT, Schoen EJ, Walton DL, et al. Routine ultrasonography compared with maternal serum alpha-fetoprotein for neural tube defect screening. Obstet Gynecol. 2005 Oct;106(4):747-52. Resumo

71. Bruner JP, Tulipan N, Dabrowiak ME, et al. Upper level of the spina bifida defect: how good are we? Ultrasound Obstet Gynecol. 2004 Nov;24(6):612-7. Resumo

72. Chen CP. Prenatal diagnosis, fetal surgery, recurrence risk and differential diagnosis of neural tube defects. Taiwan J Obstet Gynecol. 2008 Sep;47(3):283-90.Texto completo  Resumo

73. Spina Bifida Association. Guidelines for the care of people with spina bifida. 2018 [internet publication].Texto completo

74. American College of Obstetricians and Gynecologists. Practice bulletin no. 162: prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016 May;127(5):e108-22. Resumo

75. Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee opinion no.682: microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol. 2016 Dec;128(6):e262-8.Texto completo  Resumo

76. Zugazaga Cortazar A, Martín Martinez C, Duran Feliubadalo C, et al. Magnetic resonance imaging in the prenatal diagnosis of neural tube defects. Insights Imaging. 2013 Apr;4(2):225-37.Texto completo  Resumo

77. Reddy UM, Abuhamad AZ, Levine D, et al; Fetal Imaging Workshop Invited Participants. Fetal imaging: Executive summary of a Joint Eunice Kennedy Shriver National Institute of Child Health and Human Development, Society for Maternal-Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetricians and Gynecologists, American College of Radiology, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound Fetal Imaging Workshop. Am J Obstet Gynecol. 2014 May;210(5):387-97. Resumo

78. Chao TT, Dashe JS, Adams RC, et al. Fetal spine findings on MRI and associated outcomes in children with open neural tube defects. AJR Am J Roentgenol. 2011 Nov;197(5):W956-61.Texto completo  Resumo

79. Stevenson KL. Chiari type II malformation: past, present, and future. Neurosurg Focus. 2004 Feb 15;16(2):E5. Resumo

80. Dias MS. Neurosurgical management of myelomeningocele (spina bifida). Pediatr Rev. 2005 Feb;26(2):50-60. Resumo

81. Adzick NS, Thom EA, Spong CY, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011 Mar 17;364(11):993-1004.Texto completo  Resumo

82. Pollack IF, Kinnunen D, Albright AL. The effect of early craniocervical decompression on functional outcome in neonates and young infants with myelodysplasia and symptomatic Chiari II malformations: results from a prospective series. Neurosurgery. 1996 Apr;38(4):703-10. Resumo

83. American College of Radiology; American Institute of Ultrasound in Medicine; Society for Pediatric Radiology; Society of Radiologists in Ultrasound. ACR–AIUM–SPR–SRU practice parameter for the performance of an ultrasound examination of the neonatal and infant spine. 2016 [internet publication].Texto completo

84. Joseph DB. Current approaches to the urologic care of children with spina bifida. Curr Urol Rep. 2008 Mar;9(2):151-7. Resumo

85. Frimberger D, Cheng E, Kropp BP. The current management of the neurogenic bladder in children with spina bifida. Pediatr Clin North Am. 2012 Aug;59(4):757-67. Resumo

86. Visconti D, Noia G, Triarico S, et al. Sexuality, pre-conception counseling and urological management of pregnancy for young women with spina bifida. Eur J Obstet Gynecol Reprod Biol. 2012 Aug;163(2):129-33. Resumo

87. Trivedi J, Thompson JD, Slakey JB, et al. Clinical and radiographic predictors of scoliosis in patients with myelomeningocele. J Bone Joint Surg Am. 2002 Aug;84(8):1389-94. Resumo

88. Tortori-Donati P, Fondellia MP, Rossia A, et al. Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR Am J Neuroradiol. 1999 Mar;20(3):445-56.Texto completo  Resumo

89. Ryan KD, Plosky C, Emans JB. Myelodysplasia - the musculoskeletal problem: habilitation from infancy to adulthood. Phys Ther. 1991 Dec;71(12):935-46. Resumo

90. Battibugli S, Gryfakis N, Dias L, et al. Functional gait comparison between children with myelomeningocele: shunt versus no shunt. Dev Med Child Neurol. 2007 Oct;49(10):764-9.Texto completo  Resumo

91. Harstall C; Institute of Health Economics (Canada). First and second trimester prenatal screening for trisomies 13, 18, and 21 and open neural tube defects. September 2012 [internet publication].Texto completo

92. Cameron M, Moran P. Prenatal screening and diagnosis of neural tube defects. Prenat Diagn. 2009 Apr;29(4):402-11. Resumo

93. Tulipan N, Wellons JC 3rd, Thom EA, et al; MOMS Investigators. Prenatal surgery for myelomeningocele and the need for cerebrospinal fluid shunt placement. J Neurosurg Pediatr. 2015 Dec;16(6):613-20.Texto completo  Resumo

94. Forrester MB, Merz RD. Prenatal diagnosis and elective termination of neural tube defects in Hawaii, 1986-1997. Fetal Diagn Ther. 2000 May-Jun;15(3):146-51. Resumo

95. Spinner SS, Miesnik SR, Koh JG, et al. Maternal, fetal, and neonatal care in open fetal surgery for myelomeningocele. J Obstet Gynecol Neonatal Nurs. 2012 May-Jun;41(3):447-54. Resumo

96. Adzick NS. Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg. 2013 Feb;22(1):10-7. Resumo

97. Brock JW 3rd, Carr MC, Adzick NS, et al; MOMS Investigators. Bladder function after fetal surgery for myelomeningocele. Pediatrics. 2015 Oct;136(4):e906-13. Resumo

98. Grivell RM, Andersen C, Dodd JM. Prenatal versus postnatal repair procedures for spina bifida for improving infant and maternal outcomes. Cochrane Database Syst Rev. 2014 Oct 28;(10):CD008825.Texto completo  Resumo

99. Lingman G. Management of pregnancy and labour in cases diagnosed with major fetal malformation. Curr Opin Obstet Gynecol. 2005 Apr;17(2):143-6. Resumo

100. Shaer CM, Chescheir N, Erickson K, et al. Obstetrician-gynecologists' practice and knowledge regarding spina bifida. Am J Perinatol. 2006 Aug;23(6):355-62. Resumo

101. Warf BC, Stagno V, Mugamba J. Encephalocele in Uganda: ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children. J Neurosurg Pediatr. 2011 Jan;7(1):88-93. Resumo

102. Vogel TW, Bahuleyan B, Robinson S, et al. The role of endoscopic third ventriculostomy in the treatment of hydrocephalus. J Neurosurg Pediatr. 2013 Jul;12(1):54-61. Resumo

103. Drake JM, Kulkarni AV, Kestle J. Endoscopic third ventriculostomy vs ventriculoperitoneal shunt in pediatric patients, a decision analysis. Childs Nerv Syst. 2009 Apr;25(4):467-72. Resumo

104. Jenkinson MD, Hayhurst C, Al-Jumaily M, et al. The role of ETV in adult patients with hydrocephalus. J Neurosurgery. 2009 May;110(5):861-6 Resumo

105. Drake JM, Kestle JR, Milner R, et al. Randomized trial of cerebrospinal fluid shunt valve design in pediatric hydrocephalus. Neurosurgery. 1998 Aug;43(2):294-303. Resumo

106. Hankinson T, Tubbs RS, Wellons JC. Duraplasty or not? An evidence-based review of the pediatric Chiari I malformation. Childs Nerv Syst. 2011 Jan;27(1):35-40. Resumo

107. Franco I, Horowitz M, Grady R, et al. Efficacy and safety of oxybutynin in children with detrusor hyperreflexia secondary to neurogenic bladder dysfunction. J Urol. 2005 Jan;173(1):221-5. Resumo

108. Sturm RM, Cheng EY. The management of the pediatric neurogenic bladder. Curr Bladder Dysfunct Rep. 2016;11:225-33.Texto completo  Resumo

109. Hopps CV, Kropp KA. Preservation of renal function in children with myelomeningocele managed with basic newborn evaluation and close followup. J Urol. 2003 Jan;169(1):305-8. Resumo

110. Dik P, Klijn AJ, van Gool JD, et al. Early start to therapy preserves kidney function in spina bifida patients. Eur Urol. 2006 May;49(5):908-13. Resumo

111. Madden-Fuentes RJ, McNamara ER, Lloyd JC, et al. Variation in definitions of urinary tract infections in spina bifida patients: a systematic review. Pediatrics. 2013 Jul;132(1):132-9. Resumo

112. Swaroop VT, Dias L. Orthopaedic management of spina bifida-part II: foot and ankle deformities. J Child Orthop. 2011 Dec;5(6):403-14.Texto completo  Resumo

113. Lorente Molto FJ, Martinez GI. Retrospective review of L3 myelomeningocele in three groups: should posterolateral iliopsoas transfer still be indicated to stabilize the hip? J Pediatr Orthop B. 2005 May;14(3):177-84. Resumo

114. Dias L. Hip dislocation in spina bifida: when is surgery required and what type of surgery should be performed? Ortop Traumatol Rehabil. 2011 Mar-Apr;13(2):101-3. Resumo

115. Ambartsumyan L, Rodriguez L. Bowel management in children with spina bifida. J Pediatr Rehabil Med. 2018;11(4):293-301. Resumo

116. Liptak GS, Garver K, Dosa NP. Spina bifida grown up. J Dev Behav Pediatr. 2013 Apr;34(3):206-15. Resumo

117. Webb TS. Medical care of adults with spina bifida. J Pediatr Rehabil Med. 2009;2(1):3-11. Resumo

118. Webb TS. Optimizing health care for adults with spina bifida. Dev Disabil Res Rev. 2010;16(1):76-81. Resumo

119. Dicianno BE, Gaines A, Collins DM, et al. Mobility, assistive technology use, and social integration among adults with spina bifida. Am J Phys Med Rehabil. 2009 Jul;88(7):533-41. Resumo

120. Dicianno BE, Wilson R. Hospitalizations of adults with spina bifida and congenital spinal cord anomalies. Arch Phys Med Rehabil. 2010 Apr;91(4):529-35. Resumo

121. Simon TD, Lamb S, Murphy NA, et al. Who will care for me next? Transitioning to adulthood with hydrocephalus. Pediatrics. 2009 Nov;124(5):1431-7.Texto completo  Resumo

122. Verhoef M, Lurvink M, Barf HA, et al. High prevalence of incontinence among young adults with spina bifida: description, prediction and problem perception. Spinal Cord. 2005 Jun;43(6):331-40.Texto completo  Resumo

123. Palmer JS, Kaplan WE, Firlit CF. Erectile dysfunction in patients with spina bifida is a treatable condition. J Urol. 2000 Sep;164(3 Pt 2):958-61. Resumo

124. World Allergy Organization. Latex allergy diagnosis and management. Jan 2022 [internet publication].Texto completo

125. Arata M, Grover S, Dunne K, et al. Pregnancy outcome and complications in women with spina bifida. J Reprod Med. 2000 Sep;45(9):743-8. Resumo

126. Garcia AM, Dicianno BE. The frequency of lymphedema in an adult spina bifida population. Am J Phys Med Rehabil. 2011 Feb;90(2):89-96. Resumo

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