Malattia di Hirschsprung (HSCR)o Megacolon Congenito
Links
http://en.wikipedia.org/wiki/Hirschsprung%27s_disease
http://it.wikipedia.org/wiki/Enterocolite_di_Hirschsprung
http://www.nature.com/nature/journal/v367/n6461/abs/367377a0.html
http://www.sciencedirect.com/science/article/pii/S0022346805006305
http://www.expertmapper.com/go/megacolon/-aMartucciello+G/-vEmArt
http://surgery.med.umich.edu/pediatric/clinical/physician_content/a-m/hirschsprung.shtml
http://lib.bioinfo.pl/auid:1228389
Bibliografia
^ Parisi MA; Pagon, RA; Bird, TD; Dolan, CR; Stephens, K; Adam, MP (2002). Pagon RA, Bird TC, Dolan CR, Stephens K. ed. "Hirschsprung Disease Overview". GeneReviews. PMID 20301612.- ^ Suita S, Taguchi T, Ieiri S, Nakatsuji T (2005). "Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years". Journal of Pediatric Surgery 40 (1): 197–201; discussion 201–2. doi:10.1016/j.jpedsurg.2004.09.052. PMID 15868585.
- ^ Holschneider AM, Puri P. (2008). “Hirschsprung’s Disease and Allied Disorders”, Third Edition, Springer, Berlin.^ . Berlin: Springer. 2007. ISBN 3-540-33934-5.
- ^ Worman S, Ganiats TG (1995). "Hirschsprung's disease: a cause of chronic constipation in children". Am Fam Physician 51 (2): 487–94. PMID 7840044.
- ^ Martucciello G, Bicocchi MP, Dodero P.,Lerone M.,Silengo Cirillo M, Puliti A, Gimelli G, Romeo G. (1992). "Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10". Pediatric Surgery International 7 (4): 308–310. doi:10.1007/BF00183991.
- ^ Romeo G,Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H & Martucciello G (1994). "Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease". Nature 367 (6461): 377–378. doi:10.1038/367377a0. PMID 8114938.
- ^ Angrist, Misha; Kauffman, Erick; Slaugenhaupt, Susan A.; Cox Matise, Tara; Puffenberger, Erik G.; Shaw Washington, Sarah; Lipson, Anthony; Cass, Daniel T. et al (1993). "A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10". Nat. Genet. 4 (4): 351–6. doi:10.1038/ng0893-351. PMID 8401581.
- ^ Lyonnet, S.; Bolino, A.; Pelet, A.; Abel, L.; Nihoul-Fékété, C.; Briard, M. L.; Mok-Siu, V.; Kaariainen, H. et al (1993). "A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10". Nat. Genet. 4 (4): 346–50. doi:10.1038/ng0893-346. PMID 8401580.
- ^ Kays DW (1996). "Surgical conditions of the neonatal intestinal tract". Clinics in Perinatology 23 (2): 353–75. PMID 8780909.
- ^ Colwell, Janice (2004). Fecal and Urinary Diversion Management. Mosby. pp. 264. ISBN 978-0-323-02248-4.
- ^ Goldberg EL (1984). "An epidemiological study of Hirschsprung's disease". Int J Epidemiol 13 (4): 479–85. doi:10.1093/ije/13.4.479. PMID 6240474.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 142623
- ^ Martucciello, G; Ceccherini, I; Lerone, M; Jasonni, V (2000). "Pathogenesis of Hirschsprung's disease". Journal of Pediatric Surgery 35 (7): 1017–1025. doi:10.1053/jpsu.2000.7763. PMID 10917288.
- ^ Puri P, Shinkai T (2004). "Pathogenesis of Hirschsprung's disease and its variants: recent progress". Semin. Pediatr. Surg. 13 (1): 18–24. doi:10.1053/j.sempedsurg.2003.09.004. PMID 14765367.
- ^ Martucciello G. (2008 Jun) "Hirschsprung's disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench". Eur J Pediatr Surg. ;18(3):140-9. Review. PubMed PMID: 18493886
- ^ Dobbins, W. O.; Bill, A. H. (1965). "Diagnosis of Hirschsprung's Disease Excluded by Rectal Suction Biopsy". New England Journal of Medicine 272 (19): 990–993. doi:10.1056/NEJM196505132721903. PMID 14279253. edit
- ^ Eli Ehrenpreis (October 2003). Anal and rectal diseases explained. Remedica. pp. 15–. ISBN 978-1-901346-67-1. http://books.google.com/books?id=nB-HLHPaxu0C&pg=PA15. Retrieved 10 November 2010.
- ^ Martucciello G, Pini Prato A, Puri P, Holschneider AM, Meier-Ruge W, Tovar JA, Grosfeld JL. (2005). "Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies". J Pediatr Surg. 40 (10): 1527–31. doi:10.1016/j.jpedsurg.2005.07.053. PMID 16226977.
- ^ Kim, H. J.; Kim, A. Y.; Lee, C. W.; Yu, C. S.; Kim, J.-S.; Kim, P. N.; Lee, M.-G.; Ha, H. K. (2008). "Hirschsprung disease and hypoganglionosis in adults: radiologic findings and differentiation". Radiology 247 (2): 428–34. doi:10.1148/radiol.2472070182. PMID 18430875.
- ^ Swenson O (1989). "My early experience with Hirschsprung's disease". J. Pediatr. Surg. 24 (8): 839–44; discussion 844–5. doi:10.1016/S0022-3468(89)80549-4. PMID 2671336.
- ^ W. Allan Walker (1 July 2004). Pediatric gastrointestinal disease: pathophysiology, diagnosis, management. PMPH-USA. pp. 2120–. ISBN 978-1-55009-240-0. http://books.google.com/books?id=dI5NhvRaWbkC&pg=PA2120. Retrieved 10 November 2010.
- ^ Timothy R. Koch (2003). Colonic diseases. Humana Press. pp. 387–. ISBN 978-0-89603-961-2. http://books.google.com/books?id=OUDJ8Vr4ZrgC&pg=PA387. Retrieved 10 November 2010.
- ^ Malone PS, Ransley PG, Kiely EM. (1990). "Preliminary report: the antegrade continence enema". Lancet 336 (8725): 1217–1218. PMID 1978072me=336.
- ^ Walsh, Koyle, Waxman (2000). "The Malone ACE Procedure for Fecal Incontinence". Infections in Urology 13 (4). http://www.medscape.com/viewarticle/410216_4.
- ^ Elizabeth And Philip Prosser; Philip Prosser (10 February 2011). Unwanted Baggage: A Comprehensive Introduction Surgical Ostomies. AuthorHouse. ISBN 978-1-4567-7155-3. http://books.google.com/books?id=BpbQADFcXogC. Retrieved 20 May 2012.
- ^ Mueller, C.; Patel, S.; Irons, M.; Antshel, K.; Salen, G.; Tint, G.S.; Bay, C. (2003). "Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease". American Journal of Medical Genetics. Part a 123A (1): 100–6. doi:10.1002/ajmg.a.20491. PMC 1201564. PMID 14556255. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1201564.
- ^ Bonnard, Arnaud; Zeidan, Smart; Degas, Vanessa; Viala, Jérome; Baumann, Clarisse; Berrebi, Dominique; Perrusson, Odile; El Ghoneimi, Alaa (2009). "Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome". Journal of Pediatric Surgery 44 (3): 587–91. doi:10.1016/j.jpedsurg.2008.10.066. PMID 19302864.
- ^ Saunders CJ, Zhao W, Ardinger HH (2009). "Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics". American Journal of Medical Genetics. Part a 149A (11): 2527–31. doi:10.1002/ajmg.a.33067. PMID 19842203.
- ^ Flori, Elisabeth; Girodon, Emmanuelle; Samama, Brigitte; Becmeur, François; Viville, Brigitte; Girard-Lemaire, Françoise; Doray, Bérénice; Schluth, Caroline et al (2005). "Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome". European Journal of Human Genetics 13 (9): 1013–8. doi:10.1038/sj.ejhg.5201442. PMID 15915162.
- ^ De Pontual, L.; Pelet, A.; Clement-Ziza, M.; Trochet, D.; Antonarakis, S.E.; Attie-Bitach, T.; Beales, P.L.; Blouin, J.-L. et al (2007). "Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease". Human Mutation 28 (8): 790–6. doi:10.1002/humu.20517. PMID 17397038.