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Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis.
Wang XJ, Camilleri M. Wang XJ, et al. Neurogastroenterol Motil. 2019 Nov;31(11):e13732. doi: 10.1111/nmo.13732. Neurogastroenterol Motil. 2019. PMID: 31609069 Review.
The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment o …
The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with differ …
Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee.
Kawaguchi AL, Guner YS, Sømme S, Quesenberry AC, Arthur LG, Sola JE, Downard CD, Rentea RM, Valusek PA, Smith CA, Slidell MB, Ricca RL, Dasgupta R, Renaud E, Miniati D, McAteer J, Beres AL, Grabowski J, Peter SDS, Gosain A; American Pediatric Surgical Association Outcomes and Evidence-Based Practice (OEBP) Committee. Kawaguchi AL, et al. J Pediatr Surg. 2021 Sep;56(9):1513-1523. doi: 10.1016/j.jpedsurg.2021.03.046. Epub 2021 Mar 28. J Pediatr Surg. 2021. PMID: 33993978 Free PMC article. Review.
OBJECTIVE: Long-Segment Hirschsprung Disease (LSHD) differs clinically from short-segment disease. ...Prospective studies comparing operative options and long-term outcomes are needed. Translational approaches, such as stem cell therapy, …
OBJECTIVE: Long-Segment Hirschsprung Disease (LSHD) differs clinically from short-segment disease. ...Pro …
Machine learning-based quantitative analysis of barium enema and clinical features for early diagnosis of short-segment Hirschsprung disease in neonate.
Huang SG, Qian XS, Cheng Y, Guo WL, Zhou ZY, Dai YK. Huang SG, et al. J Pediatr Surg. 2021 Oct;56(10):1711-1717. doi: 10.1016/j.jpedsurg.2021.05.006. Epub 2021 May 24. J Pediatr Surg. 2021. PMID: 34120738
OBJECTIVE: To develop a mathematical model based on a combination of clinical and radiologic features (barium enema) for early diagnosis of short-segment Hirschsprung disease (SHSCR) in neonate. METHODS: The analysis included 54 neonates with biopsy-co …
OBJECTIVE: To develop a mathematical model based on a combination of clinical and radiologic features (barium enema) for early diagnosis of …
Clinical features' diagnostics and treatment of Hirschsprung's disease in adults.
Vorobyov GI, Achkasov SI, Biryukov OM. Vorobyov GI, et al. Colorectal Dis. 2010 Dec;12(12):1242-8. doi: 10.1111/j.1463-1318.2009.02031.x. Colorectal Dis. 2010. PMID: 19674017
AIM: Hirschsprung's disease first diagnosed in adulthood is symptomatic from early childhood in most cases. ...CONCLUSION: Occasionally, Hirschsprung's disease presents in adulthood, with ongoing symptoms from early childhood or with the development of …
AIM: Hirschsprung's disease first diagnosed in adulthood is symptomatic from early childhood in most cases. ...CONCLUSION: Occ …
Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.
Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK. Fitze G, et al. Lancet. 2002 Apr 6;359(9313):1200-5. doi: 10.1016/S0140-6736(02)08218-1. Lancet. 2002. PMID: 11955539
BACKGROUND: Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease. Results of genetic-linkage analysis of patients with familial disease with both long-segment and short-segment phenotype …
BACKGROUND: Several genes, including the major susceptibility gene RET, have roles in development of Hirschsprung's disease. R …
Chronic constipation in Turkish children: clinical findings and applicability of classification criteria.
Aydoğdu S, Cakir M, Yüksekkaya HA, Arikan C, Tümgör G, Baran M, Yağci RV. Aydoğdu S, et al. Turk J Pediatr. 2009 Mar-Apr;51(2):146-53. Turk J Pediatr. 2009. PMID: 19480326
We found that 7.7% of the cases had an organic pathology, and short segment Hirschsprung disease was the leading cause. Other children (92.3%) were classified as functional constipation, with a mean age of 6.4 +/- 4 years and with slight male dominance …
We found that 7.7% of the cases had an organic pathology, and short segment Hirschsprung disease was the leading …
Role of anorectal myectomy in the treatment of short segment Hirschsprung's disease in young adults.
Kaymakcioglu N, Yagci G, Can MF, Demiriz M, Peker Y, Akdeniz A. Kaymakcioglu N, et al. Int Surg. 2005 Apr-Jun;90(2):109-12. Int Surg. 2005. PMID: 16119717
Basic pathological disorder in Hirschsprung's disease (HD) comes into being by the abnormal innervations of the aganglionic distal intestine. ...Myectomy of the short segment of aganglionic part may provide diagnostic and therapeutic
Basic pathological disorder in Hirschsprung's disease (HD) comes into being by the abnormal innervations of the aganglionic
The mild form of Hirschsprung's disease (short segment): fourteen-years experience in diagnosis and treatment.
Udassin R, Nissan S, Lernau O, Hod G. Udassin R, et al. Ann Surg. 1981 Dec;194(6):767-70. doi: 10.1097/00000658-198112000-00018. Ann Surg. 1981. PMID: 7305493 Free PMC article.
From 1966 through 1980, 39 children were treated with anorectal myectomy for the mild form of Hirschsprung's disease. The mild form of Hirschsprung's disease is differentiated from the severe one mainly on clinical grounds. ...Anorectal myectomy is the …
From 1966 through 1980, 39 children were treated with anorectal myectomy for the mild form of Hirschsprung's disease. The mild …
Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.
Fitze G, Cramer J, Serra A, Schreiber M, Roesner D, Schackert HK. Fitze G, et al. Eur J Pediatr Surg. 2003 Jun;13(3):152-7. doi: 10.1055/s-2003-41270. Eur J Pediatr Surg. 2003. PMID: 12939698
Hirschsprung disease (HSCR) is considered a model for a complex inheritance disorder. ...Genetic linkage analysis in familial HSCR with both long- and short-segment phenotypes has demonstrated a tight linkage to the RET locus, while the phenotype withi
Hirschsprung disease (HSCR) is considered a model for a complex inheritance disorder. ...Genetic linkage analysis in familial