Anorectal Malformations

Congenital defects in the anus and the rectum often involving the urinary and genital tracts.

Also Known As:

Anorectal Anomalies; Anorectal Atresia; Anorectal Malformation; Anorectal Stenosis; Anomalies, Anorectal; Anomaly, Anorectal; Anorectal Anomaly; Anorectal Atresias; Anorectal Stenoses; Atresia, Anorectal; Atresias, Anorectal; Malformation, Anorectal; Malformations, Anorectal; Stenoses, Anorectal; Stenosis, Anorectal

Networked: 414 relevant articles (13 outcomes, 55 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Encopresis
2.	Hirschsprung Disease (Hirschsprung's Disease)
3.	Fistula
4.	Fecal Incontinence
5.	Hypospadias

Experts

1.	Wang, Weilin: 13 articles (12/2022 - 09/2007)
2.	Bai, Yuzuo: 12 articles (12/2022 - 09/2007)
3.	Jia, Huimin: 12 articles (12/2022 - 09/2007)
4.	Bai, Yu Zuo: 9 articles (01/2021 - 08/2009)
5.	Yuan, Zheng Wei: 9 articles (01/2021 - 08/2009)
6.	Levitt, Marc A: 8 articles (12/2020 - 06/2005)
7.	Puri, Prem: 7 articles (11/2019 - 10/2007)
8.	Wang, Wei-Lin: 7 articles (11/2018 - 01/2007)
9.	Wang, Wei Lin: 7 articles (01/2018 - 08/2009)
10.	Zhang, Tao: 7 articles (07/2014 - 08/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Anorectal Malformations:

1.	Propranolol (Inderal)FDA LinkGeneric 05/01/2023 - "The anorectal malformation was surgically corrected, she was taking oral propranolol for the cutaneous lesion, and she showed improvement and no complications."
2.	EthylenethioureaIBA 08/01/2015 - "This study was performed to investigate the expression of Wnt3a in the terminal hindgut in ethylenethiourea (ETU)-exposed rat embryos with anorectal malformations (ARMs) and its potential association between Wnt3a and the maldevelopment of the terminal hindgut in ARMs. " 01/01/2014 - "The aim of this study was to determine the expression of Cdx4 (caudal-type homeobox gene-4) during anorectal development in normal and ethylenethiourea (ETU)-induced anorectal malformation (ARM) embryos with a view to establishing the possible role of Cdx4 in ARM pathogenesis. " 01/01/2012 - "This study was designed to investigate the expression of Notch-1 and Jagged-2 in the terminal hindgut in ethylenethiourea (ETU)-exposed rat embryos with anorectal malformations (ARMs) and its potential association with the maldevelopment of the terminal hindgut in ARMs. " 04/01/2010 - "This study investigated the expression pattern of Hoxd-13 in the hindgut development of the normal and ethylenethiourea (ETU)-exposed rat embryos with anorectal malformations (ARMs) to find out the possible role of Hoxd-13 in the hindgut development and anorectal morphogenesis. " 04/01/2008 - "The objective of this study was to analyze the density of ICC in the terminal intestine of fetuses of rats with anorectal anomaly induced by ethylenethiourea (ETU). "
3.	cytidylyl-(3'-5')-cytidine (CpC)IBA 01/01/2021 - "The aim of this study was to find out the incidence of CPC among anorectal malformation (ARM) cases in our institute and to compare the outcome between conventional three-staged surgery versus two-staged management approach. " 03/01/2010 - "There are no in vitro studies of congenital pouch colon (CPC) associated with anorectal malformation (ARM) to understand its mechanism of contractility. " 03/01/2009 - "Although enough literature is available on the descriptive and the management aspects of congenital pouch colon (CPC) associated with anorectal malformation (ARM), there is paucity of its detailed histopathologic studies. " 10/01/2022 - "early identification of CPC and differentiation from colon dilatation due to anorectal malformation is essential for the patient's welfare. " 01/01/2022 - "Congenital Pouch Colon (CPC) is a rare anorectal malformation (ARM) in which a part of or the entire colon is replaced by pouch-like dilatation. "
4.	RetinoidsIBA 02/01/2004 - "The aim of this study was to determine the possible role of the retinoid-mediated signaling pathway in the pathogenesis of anorectal malformations (ARM). " 06/01/2008 - "We have studied the morphogenesis of anorectal malformations in mice using retinoids. " 07/01/2011 - "In the present study, we investigated whether the retinoid antagonist, LE135, could prevent the induction of anorectal malformations (ARMs) in mice. " 01/01/1998 - "To investigate the pathogenesis of anorectal malformations (ARM), the authors studied cell proliferation and programmed cell death (apoptosis) patterns in murine embryos that develop ARM as a result of administering an overdose of etretinate, a long-acting vitamin A analogue (retinoid). "
5.	Dibutyl Phthalate (Butyl Phthalate)IBA 03/01/2016 - "This study was the first to investigate the genetic abnormalities and structural dysplasia of anorectal malformations (ARMs) in male rats induced by di(n-butyl) phthalate (DBP). " 12/02/2015 - "Previous study have demonstrated that not only the anorectal development but also the general conditions of anorectal malformations (ARMs) male rats are severely affected by di-n-butyl phthalate (DBP) maternal exposure. " 03/01/2016 - "Genetic research and structural dysplasia assessment of anorectal malformations in neonatal male rats induced by di(n-butyl) phthalate." 10/01/2014 - "Expression of Wnt5a during development of anorectal malformations in a rat model of prenatal exposure to di(n-butyl) phthalate." 12/18/2011 - "Prenatal exposure to di-n-butyl phthalate induces anorectal malformations in male rat offspring."
6.	CateninsIBA 01/01/2018 - "This study was performed to investigate the expression pattern of Wnt inhibitory factor 1 (Wif1) and β-catenin during anorectal development in normal and anorectal malformation (ARM) embryos and the possible role of Wif1 and β-catenin in the pathogenesis of ARM. " 12/01/2022 - "miR-141-3p affects β-catenin signaling and apoptosis by targeting Ubtd2 in rats with anorectal malformations." 07/01/2020 - "Upregulation of miR-92a-2-5p potentially contribute to anorectal malformations by inhibiting proliferation and enhancing apoptosis via PRKCA/β-catenin." 01/01/2018 - "Expression pattern of Wif1 and β-catenin during development of anorectum in fetal rats with anorectal malformations." 06/01/2014 - "Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-β-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations."
7.	ThioureaIBA 01/01/2018 - "In the present study, we used ethylene thiourea to induce the animal models of anorectal malformation in rat embryos and to interrogate the role of FOXD3/FOXD4 in anorectal malformation pathogenesis. " 01/01/2018 - "Expression level analysis by western blot indicated that FOXD3/FOXD4 expression increased in ethylene thiourea-induced anorectal malformation groups. " 01/01/2014 - "Anorectal malformation embryos were induced by ethylene thiourea on embryonic day 10 (E10). " 03/01/2007 - "To evaluate an experimental model for anorectal anomalies and their principal associated malformations induced by ethylene thiourea (ETU). " 01/01/2023 - "CircJag1 promotes apoptosis of ethylene thiourea-exposed anorectal malformations through sponging miR-137-3p by regulating Sox9 and suppressing Wnt/β-catenin pathway during the hindgut development of rat embryos."
8.	trans-sodium crocetinate (crocetin)IBA 02/01/2016 - "This study aims to evaluate diagnosis and treatment of tethered spinal cord (TSC) in anorectal malformation (ARM) patients. " 10/12/2023 - "The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. " 03/19/2023 - "First, to assess the number of spinal cord anomalies (SCA), specifically tethered spinal cord (TSC) in patients with anorectal malformations (ARM), identified with spinal cord imaging (i.e. " 09/01/2017 - "Anorectal malformation (ARM) is associated with a tethered spinal cord (TSC). "
9.	ethyleneIBA 01/01/2018 - "In the present study, we used ethylene thiourea to induce the animal models of anorectal malformation in rat embryos and to interrogate the role of FOXD3/FOXD4 in anorectal malformation pathogenesis. " 01/01/2018 - "Expression level analysis by western blot indicated that FOXD3/FOXD4 expression increased in ethylene thiourea-induced anorectal malformation groups. " 01/01/2014 - "Anorectal malformation embryos were induced by ethylene thiourea on embryonic day 10 (E10). " 03/01/2007 - "To evaluate an experimental model for anorectal anomalies and their principal associated malformations induced by ethylene thiourea (ETU). " 01/01/2023 - "CircJag1 promotes apoptosis of ethylene thiourea-exposed anorectal malformations through sponging miR-137-3p by regulating Sox9 and suppressing Wnt/β-catenin pathway during the hindgut development of rat embryos."
10.	DNA (Deoxyribonucleic Acid)IBA 07/01/2015 - "DNA samples from 103 patients with VATER/VACTERL and VATER/VACTERL‑like association, all presenting with anorectal malformations, and 72 fetuses with NTDs, where termination of pregnancy had been performed, were included in the current study. " 01/01/2020 - "We performed next-generation sequencing on DNA from 15 patients with 22q11.2DS and atypical phenotypic features such as craniosynostosis, short stature, skeletal differences, and anorectal malformations. " 01/01/2014 - "In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal anomalies, L limb deformities), we have collected DNA samples from 20 patients diagnosed with VACTERL or with a VACTERL-like phenotype as well as samples from 19 aborted fetal cases with VACTERL. "

Therapies and Procedures

1.	Colostomy 07/01/2010 - "Anterior or posterior sagittal anorectoplasty without colostomy for low-type anorectal malformation: how to get a better outcome?" 03/01/2002 - "Posterior sagittal repair has been used to repair all anorectal malformations and has improved the quality of life of our patients, with better functional results expected in female patients, early colostomy fashioning and definitive repair, low or simple anomalies, and absence of sacral defects. " 08/01/2018 - "Laparoscopic-assisted colostomy in the management of anorectal malformations is a safe and effective technique. " 01/01/2016 - "Comparison of trans-perineal ultrasound-guided pressure augmented saline colostomy distension study and conventional contrast radiographic colostography in children with anorectal malformation." 01/01/2014 - "The purpose of this study was to compare the clinical outcomes of loop and divided colostomies in patients with anorectal malformations (ARM). "
2.	Therapeutics 11/01/2010 - "The International Consortium on Anorectal Malformations will provide possibilities to study and detect important genes and environmental risk factors for ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention." 05/01/2013 - "[Surgical therapy on patients with anorectal malformations in adulthood]." 12/01/2009 - "Despite significant progress in the understanding of the pathophysiology of and therapy for Hirschsprung's dis-ease and anorectal malformations, the functional results remain unsatisfactory. " 12/01/2006 - "Optimal surgical therapy for low anorectal anomalies remains controversial. " 01/01/2001 - "Diagnostics, therapy and prognosis of anorectal malformations. "
3.	Psychology Biofeedback (Biofeedback) 12/01/2022 - "Analysis of the efficacy of biofeedback for faecal incontinence after surgery for anorectal malformation." 10/01/2015 - "Prognostic evaluation of biofeedback response in patients treated for anorectal malformation." 12/01/2006 - "Electrical stimulation and biofeedback exercise of pelvic floor muscle is an effective adjunct for the treatment of faecal incontinence in children following surgery for anorectal malformation." 12/01/2006 - "We report our experience of electrical stimulation and biofeedback exercise of pelvic floor muscle for children with faecal incontinence after surgery for anorectal malformation (ARM). " 12/01/2006 - "Electrical stimulation and biofeedback exercise of pelvic floor muscle for children with faecal incontinence after surgery for anorectal malformation."
4.	Transplantation 11/01/2009 - "Myoblast transplantation may provide a novel treatment strategy for improving fecal continence after repair of anorectal anomalies in infants." 10/01/2010 - "Long-term outcome after free autogenous muscle transplantation for anal incontinence in children with anorectal malformations." 09/19/1975 - "Since maturation of anorectal structures after surgical correction of high anorectal atresias and late development of anorectal mechanisms seems possible and might to be assisted by transplantation, early surgery -- about the fourth year of life -- is recommended." 12/01/1993 - "In infants with imperforate anus and ESRD, it is unclear if the additional burdens of the anorectal malformation and its staged repair contraindicate dialysis and transplantation. "
5.	Negative-Pressure Wound Therapy 04/01/2021 - "We aimed to evaluate the efficacy of a perineal vacuum-assisted closure (VAC) for prevention of WD following repair of anorectal malformations (ARM) with rectoperineal and rectovestibular fistula. "