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Digestive tract malformation

MedGen UID:
1842943
•Concept ID:
C5681507
•
Congenital Abnormality
Orphanet: ORPHA98039

Professional guidelines

PubMed

Emergency Medicine Evaluation and Management of Small Bowel Obstruction: Evidence-Based Recommendations.
Long B, Robertson J, Koyfman A
J Emerg Med 2019 Feb;56(2):166-176. Epub 2018 Dec 6 doi: 10.1016/j.jemermed.2018.10.024. PMID: 30527563
Meckel's diverticulum: clinical features, diagnosis and management.
Kuru S, Kismet K
Rev Esp Enferm Dig 2018 Nov;110(11):726-732. doi: 10.17235/reed.2018.5628/2018. PMID: 30032625
Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis.
Gosain A, Frykman PK, Cowles RA, Horton J, Levitt M, Rothstein DH, Langer JC, Goldstein AM; American Pediatric Surgical Association Hirschsprung Disease Interest Group
Pediatr Surg Int 2017 May;33(5):517-521. Epub 2017 Feb 2 doi: 10.1007/s00383-017-4065-8. PMID: 28154902Free PMC Article

Recent clinical studies

Etiology

Expression of the axon guidance factor Slit2 and its receptor Robo1 in patients with Hirschsprung disease: An observational study.
Kong M, Zhou T, Xiang B
Medicine (Baltimore) 2021 Aug 20;100(33):e26981. doi: 10.1097/MD.0000000000026981. PMID: 34414975Free PMC Article
Early enteral nutrition for upper digestive tract malformation in neonate.
Jiang W, Lv X, Xu X, Geng Q, Zhang J, Tang W
Asia Pac J Clin Nutr 2015;24(1):38-43. doi: 10.6133/apjcn.2015.24.1.08. PMID: 25740740
Difficulties in the diagnostics and treatment of near-total congenital megacolon.
Topor L, Ulici A, Mălureanu D, Stoica I, Moga A
Chirurgia (Bucur) 2014 Sep-Oct;109(5):701-4. PMID: 25375063

Diagnosis

LINC01579-204 involved in the development of Hirschsprung's disease maybe by regulating the expression of miR-203a-3p and NEFL.
Qin D, Yang W, Zhu X, Tang C, Yuan L, Xu L, Tian S, Huang R, Zhang D, Xiao S
Clin Res Hepatol Gastroenterol 2023 Dec;47(10):102240. Epub 2023 Nov 2 doi: 10.1016/j.clinre.2023.102240. PMID: 37923059
Two cases of fetal inguinoscrotal hernia and review of the literature.
Chen L, Wang J, Yue Q, Wen H
Niger J Clin Pract 2022 Dec;25(12):2062-2066. doi: 10.4103/njcp.njcp_75_22. PMID: 36537466
Long non-coding RNA LOC100507600 functions as a competitive endogenous RNA to regulate BMI1 expression by sponging miR128-1-3p in Hirschsprung's disease.
Su Y, Wen Z, Shen Q, Zhang H, Peng L, Chen G, Zhu Z, Du C, Xie H, Li H, Xia Y, Tang W
Cell Cycle 2018;17(4):459-467. Epub 2018 Feb 12 doi: 10.1080/15384101.2017.1403688. PMID: 29429387Free PMC Article
Difficulties in the diagnostics and treatment of near-total congenital megacolon.
Topor L, Ulici A, Mălureanu D, Stoica I, Moga A
Chirurgia (Bucur) 2014 Sep-Oct;109(5):701-4. PMID: 25375063

Therapy

Serum Metabolomic Signatures of Hirschsprung's Disease Based on GC-MS and LC-MS.
Yang S, Yang H, Huang Y, Chen G, Shen C, Zheng S
J Proteome Res 2023 Jul 7;22(7):2307-2318. Epub 2023 May 26 doi: 10.1021/acs.jproteome.3c00008. PMID: 37235583
Difficulties in the diagnostics and treatment of near-total congenital megacolon.
Topor L, Ulici A, Mălureanu D, Stoica I, Moga A
Chirurgia (Bucur) 2014 Sep-Oct;109(5):701-4. PMID: 25375063

Prognosis

LINC01579-204 involved in the development of Hirschsprung's disease maybe by regulating the expression of miR-203a-3p and NEFL.
Qin D, Yang W, Zhu X, Tang C, Yuan L, Xu L, Tian S, Huang R, Zhang D, Xiao S
Clin Res Hepatol Gastroenterol 2023 Dec;47(10):102240. Epub 2023 Nov 2 doi: 10.1016/j.clinre.2023.102240. PMID: 37923059
Serum Metabolomic Signatures of Hirschsprung's Disease Based on GC-MS and LC-MS.
Yang S, Yang H, Huang Y, Chen G, Shen C, Zheng S
J Proteome Res 2023 Jul 7;22(7):2307-2318. Epub 2023 May 26 doi: 10.1021/acs.jproteome.3c00008. PMID: 37235583
Difficulties in the diagnostics and treatment of near-total congenital megacolon.
Topor L, Ulici A, Mălureanu D, Stoica I, Moga A
Chirurgia (Bucur) 2014 Sep-Oct;109(5):701-4. PMID: 25375063

Clinical prediction guides

LINC01579-204 involved in the development of Hirschsprung's disease maybe by regulating the expression of miR-203a-3p and NEFL.
Qin D, Yang W, Zhu X, Tang C, Yuan L, Xu L, Tian S, Huang R, Zhang D, Xiao S
Clin Res Hepatol Gastroenterol 2023 Dec;47(10):102240. Epub 2023 Nov 2 doi: 10.1016/j.clinre.2023.102240. PMID: 37923059
Two cases of fetal inguinoscrotal hernia and review of the literature.
Chen L, Wang J, Yue Q, Wen H
Niger J Clin Pract 2022 Dec;25(12):2062-2066. doi: 10.4103/njcp.njcp_75_22. PMID: 36537466
Expression of the axon guidance factor Slit2 and its receptor Robo1 in patients with Hirschsprung disease: An observational study.
Kong M, Zhou T, Xiang B
Medicine (Baltimore) 2021 Aug 20;100(33):e26981. doi: 10.1097/MD.0000000000026981. PMID: 34414975Free PMC Article

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