Hirschsprung disease

References

Key articles

Chen Y, Nah SA, Laksmi NK, et al. Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis. J Pediatr Surg. 2013;48:642-51. Abstract

Levitt MA, Dickie B, Peña A. Evaluation and treatment of the patient with Hirschsprung disease who is not doing well after a pull-through procedure. Semin Pediatr Surg. 2010;19:146-53. Abstract

Levitt MA, Martin CA, Olesevich M, et al. Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 2009;44:271-7. Abstract

Reference articles

1. Peña A, Levitt MA. Pediatric Surgical Problems. In: Corman ML, ed. Colon and Rectal Surgery. 5th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2005:555-603.

2. Peña A, Bischoff A. Hirchsprung disease. In: Peña A, Bischoff A, eds. Surgical treatment of colorectal problems in children. Cham, Switzerland: Springer International Publishing; 2015:399-436.

3. Solari V, Piotrowska AP, Puri P. Histopathological differences between recto-sigmoid Hirschsprung's disease and total colonic aganglionosis. Pediatr Surg Int. 2003;19:349-54. Abstract

4. Ruttenstock E, Puri P. A meta-analysis of clinical outcome in patients with total intestinal aganglionosis. Pediatr Surg Int. 2009;25:833-9. Abstract

5. Kyrklund K, Sloots CEJ, de Blaauw I, et al. ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. Orphanet J Rare Dis. 2020 Jun 25;15(1):164.Full text  Abstract

6. Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2001;38:729-39. Abstract

7. Anderson JE, Vanover MA, Saadai P, et al. Epidemiology of Hirschsprung disease in California from 1995 to 2013. Pediatr Surg Int. 2018 Dec;34(12):1299-1303.Full text  Abstract

8. Passarge E. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med. 1967;276:138-43. Abstract

9. Moore SW. The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr Surg Int. 2006;22:305-15. Abstract

10. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008 Jan;45(1):1-14.Full text  Abstract

11. Hofmann AD, Puri P. Association of Hirschsprung's disease and anorectal malformation: a systematic review. Pediatr Surg Int. 2013 Sep;29(9):913-7.Full text  Abstract

12. Karim A, Tang CS, Tam PK. The emerging genetic landscape of Hirschsprung disease and its potential clinical applications. Front Pediatr. 2021;9:638093.Full text  Abstract

13. Tilghman JM, Ling AY, Turner TN, et al. Molecular genetic anatomy and risk profile of Hirschsprung's disease. N Engl J Med. 2019 Apr 11;380(15):1421-32.Full text  Abstract

14. Martucciello G, Biocchi M, Dodero P, et al. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg Int. 1992;7:308-10.

15. Luo Y, Ceccherini I, Pasini B, et al. Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease. Hum Mol Genet. 1993;2:1803-8. Abstract

16. Fewtrell MS. Tam PK, Thomson AH, et al. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? J Med Genet. 1994;31:325-7. Abstract

17. Elema JD, de Vries JA, Vos LJ. Intensity and proximal extension of acetylcholinesterase activity in the mucosa of the rectosigmoid in Hirschsprung's disease. J Pediatr Surg. 1973;8:361-8. Abstract

18. Howard ER. Hirschsprung's disease: a review of the morphology and physiology. Postgrad Med J. 1972;48:471-7. Abstract

19. Howard ER. Histochemistry in the diagnosis and investigation of congenital aganglionosis (Hirschsprung's disease). Am Surg. 1973;39:602-7. Abstract

20. Lawal TA, Chatoorgoon K, Collins MH, et al. Redo pull-through in Hirschsprung's [corrected] disease for obstructive symptoms due to residual aganglionosis and transition zone bowel. J Pediatr Surg. 2011;46:342-347. [Erratum in: J Pediatr Surg. 2011;46:791.] Abstract

21. Okamoto E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg. 1967;2:437.

22. Hiatt RB. A further description of the pathologic physiology of congenital megacolon and the results of surgical treatment. Pediatrics. 1958;21:825-31. Abstract

23. Tobon F, Reid NC, Talbert JL, et al. Nonsurgical test for the diagnosis of Hirschsprung's disease. N Engl J Med. 1968;278:188-93. Abstract

24. O'Kelly TJ, Davies JR, Tam PK, et al. Abnormalities of nitric-oxide producing neurons in Hirschsprung's disease: morphology and implications. J Pediatr Surg. 1994;29:294-9. Abstract

25. Bealer JF, Natuzzi ES, Buscher C, et al. Nitric oxide synthase is deficient in the aganglionic colon of patients with Hirschsprung's disease. Pediatrics. 1994;93:647-51. Abstract

26. Doodnath R, Puri P. A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood. Pediatr Surg Int. 2010;26:1107-10. Abstract

27. Meier-Ruge W. Hirschsprung's disease: its aetiology, pathogenesis and differential diagnosis. Curr Top Pathol. 1974;59:131-79. Abstract

28. Moore BG, Singaram C, Eckhoff DE, et al. Immunohistochemical evaluations of ultrashort-segment Hirschsprung's disease. Dis Colon Rectum. 1996;39:817-22. Abstract

29. Yang WI, Oh JT. Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease. J Pediatr Surg. 2013;48:2112-7. Abstract

30. Gosain, A., Frykman, P.K., Cowles, R.A. et al. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int. 2017 May 33(5):517-21.Full text  Abstract

31. Journal of Laparoendoscopic & Advanced Surgical Techniques. March 2005, 15(1): 89-91.Full text  Abstract

32. Georgeson KE, Fuenfer MM, Hardin WD. Primary laparoscopic pull-through for Hirschsprung's disease in infants and children. J Pediatr Surg. 1995;30:1017-21. Abstract

33. Smith BM, Steiner RB, Lobe TE. Laparoscopic Duhamel pullthrough procedure for Hirschsprung's disease in childhood. J Laparoendosc Surg. 1994;4:273-6. Abstract

34. Kim AC, Langer JC, Pastor AC, et al. Endorectal pull-through for Hirschsprung's disease - a multicenter, long-term comparison of results: transanal vs transabdominal approach. J Pediatr Surg. 2010;45:1213-20. Abstract

35. Badner JA, Sieber WK, Garver KL, et al. A genetic study of Hirschsprung disease. Am J Hum Genet. 1990;46:568-80.Full text  Abstract

36. Carcassonne M, Morisson-Lacombe G, Letourneau JN. Primary corrective operation without decompression in infants less than three months of age with Hirschsprung's disease. J Pediatr Surg. 1982;17:241-3. Abstract

37. So HB, Schwartz DL, Becker JM, et al. Endorectal "pull-through" without preliminary colostomy in neonates with Hirschsprung's disease. J Pediatr Surg. 1980;15:470-1. Abstract

38. De la Torre-Mondragon L, Ortega-Salgado JA. Transanal endorectal pull-through for Hirschsprung's disease. J Pediatr Surg. 1998;33:1283-6. Abstract

39. Soave F. Hirschsprung's disease - a new surgical technique. Arch Dis Child. 1964;39:116-24. Abstract

40. Duhamel B. Retrorectal and transanal pull-through procedure for the treatment of Hirschsprung's disease. Dis Colon Rectum. 1964;7:455-8. Abstract

41. Chatoorgoon K, Pena A, Lawal TA, et al. The problematic Duhamel pouch in Hirschsprung's disease: manifestations and treatment. Eur J Pediatr Surg. 2011;21:366-9. Abstract

42. Lynn HB, van Heerden JA. Rectal myectomy in Hirschsprung's disease: a decade of experience. Arch Surg. 1975;110:991-4. Abstract

43. Levitt MA, Hamrick MC, Eradi B, et al. Transanal, full-thickness, Swenson-like approach for Hirschsprung disease. J Pediatr Surg. 2013;48:2289-95. Abstract

44. Chen Y, Nah SA, Laksmi NK, et al. Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis. J Pediatr Surg. 2013;48:642-51. Abstract

45. Bischoff A, Levitt MA, Peña A. Total colonic aganglionosis: a surgical challenge. How to avoid complications? Pediatr Surg Int. 2011;27:1047-52.Full text  Abstract

46. Levitt MA, Dickie B, Peña A. Evaluation and treatment of the patient with Hirschsprung disease who is not doing well after a pull-through procedure. Semin Pediatr Surg. 2010;19:146-53. Abstract

47. Swenson O, Bill AH. Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesions producing megacolon: an experimental study. Surgery. 1948;24:212.

48. El-Sawaf MI, Drongowski RA, Chamberlain JN, et al. Are the long-term results of the transanal pull-through equal to those of the transabdominal pull-through? A comparison of the two approaches for Hirschsprung's disease. J Pediatr Surg. 2007;42:41-7. Abstract

49. Langer JC, Durrant AC, de la Torre L, et al. One-stage transanal Soave pullthrough for Hirschsprung's disease: a multi-center experience with 141 children. Ann Surg. 2003;238:569-76.Full text  Abstract

50. Sandgren K, Ekblad E, Larsson LT. Survival of neurons and interstitial cells of Cajal after autotransplantation of myenteric ganglia from small intestine in the lethal spotted mouse. Pediatr Surg Int. 2000;16:272-6. Abstract

51. Hu H, Ding Y, Mu W, et al. DRG-derived neural progenitors differentiate into functional enteric neurons following transplantation in the postnatal colon. Cell Transplant. 2019 Feb;28(2):157-69.Full text  Abstract

52. Lai FP, Lau ST, Wong JK, et al. Correction of Hirschsprung-associated mutations in human induced pluripotent stem cells via clustered regularly interspaced short palindromic repeats/Cas9, restores neural crest cell function. Gastroenterology. 2017 Jul;153(1):139-53.Full text  Abstract

53. Rodríguez-Rodríguez DR, Ramírez-Solís R, Garza-Elizondo MA, et al. Genome editing: A perspective on the application of CRISPR/Cas9 to study human diseases (Review). Int J Mol Med. 2019 Apr;43(4):1559-74.Full text  Abstract

54. Levitt MA, Dickie B, Peña A. The Hirschsprungs patient who is soiling after what was considered a "successful" pull-through. Semin Pediatr Surg. 2012;21:344-53. Abstract

55. Levitt MA, Martin CA, Olesevich M, et al. Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 2009;44:271-7. Abstract

56. Allin BSR, Opondo C, Bradnock TJ, et al. Outcomes at five to eight years of age for children with Hirschsprung's disease. Arch Dis Child. 2020 Nov 2;:.Full text  Abstract

57. Dai Y, Deng Y, Lin Y, et al. Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis. BMC Gastroenterol. 2020 Mar 12;20(1):67.Full text  Abstract

58. Ruttenstock E, Puri P. Systematic review and meta-analysis of enterocolitis after one-stage transanal pull-through procedure for Hirschsprung's disease. Pediatr Surg Int. 2010;26:1101-5. Abstract

59. Peña A, Elicevik M, Levitt MA. Reoperations in Hirschsprung disease. J Pediatr Surg. 2007;42:1008-13. Abstract

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