Coloboma and anorectal malformations: a rare association with important clinical implications

Brisighelli, Giulia; Bischoff, Andréa; Levitt, Marc A.; Hall, Jennifer; Monti, Elizabeth; Peña, Alberto

doi:10.1007/s00383-013-3356-y

Cited by 6 publications

(2 citation statements)

References 48 publications

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“…A recessive sex linked mutation in White Leghorns causes coloboma (co) of the eye and a number of other abnormalities including cleft palate, shortened limbs, defective digits and exteriorised viscera. The mutation is lethal in female embryos but might be useful for the study of comparable syndromes in human disease [23]. The mutation has been mapped to a relatively short section of 176 kb on chromosome X.…”

Section: Coloboma (Co)mentioning

confidence: 99%

The chick as an animal model of eye disease

Hocking

Guggenheim

2013

Drug Discovery Today: Disease Models

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A diverse range of chicken lines harbouring highly-penetrant, spontaneously-occurring mutations with an ocular phenotype have been identified over the past 40 years. These lines serve as models for human monogenic disorders including ocular albinism, retinal dystrophies such as Leber's congenital amaurosis, and coloboma, as well as the common complex traits glaucoma and myopia. Recent technical advances in gene targeting, mapping quantitative trait loci, and phenotypic characterisation of eye phenotypes offer exciting prospects for exploiting chicken genomic resources in fundamental and translational eye research. Ogiso, M. et al. (1999) Neutral and acidic glycosphingolipids in glucocorticoidinduced cataract in chick lens. Experimental Eye Research 68 (2), 229-236 76 Ritchey, E.R. et al. (2011) The chicken cornea as a model of wound healing and neuronal reinnervation. Molecular Vision 17 (264-65), 2440-2454 77 Javier, J.A.D. et al. (2006) Basement membrane and collagen deposition after laser subepithelial keratomileusis and photorefractive keratectomy in the leghorn chick eye.

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Section: Coloboma (Co)mentioning

confidence: 99%

The chick as an animal model of eye disease

Hocking

Guggenheim

2013

Drug Discovery Today: Disease Models

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“…[2] Similarly, the incidence of spinal cord anomaly even reached 69.8%. [3] The signi cantly high incidence of urinary tract infection (UTI) was found in ARMs, [4,5] which may ultimately lead to renal scarring and subsequent renal failure. [6,7] Most anomalies may can increase the risk of developing urinary tract infections, including vesicoureteral re ux (VUR), neurologic bladder, congenital rectourethral stula, and so on.…”

Section: Introductionmentioning

confidence: 99%

Risk Factors of Urinary Tract Infection in Children with Anorectal Malformations

Wang

Hou

et al. 2022

Preprint

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Objective: The purpose of this study was to predict risk factors for urinary tract infection (UTI) in children with anorectal malformations (ARMs). Methods:We retrospectively reviewed infants with ARMs who received the three-stage operation at our center from 2019 to January, 2022. Logistic regression analysis was used to assess the association of clinical factors with UTI. Results: 151 children were included with an average age of 8.75 months. 106(70.2%) were male. 71(47.0%) were diagnosed with urinary tract infection before anorectalplasty. 69(45.7%) patients had concomitant genitourinary tract anomalies. 59(39.1%) patients were diagnosed with spinal cord anomalies. Multivariate logistic regression analysis found that gender was the only independent factor associated with the occurrence of UTI (males vs female, OR=7.306, p=0.001, 95%CI=2.315-23.055). 19(12.6%) were diagnosed of recurrent urinary tract infections (RUTI) during follow-up. On multivariate logistic regression, VUR (OR=13.236, p=0.004, 95%CI=2.232-78.500), tethered cord (OR=6.720, p=0.015, 95%CI=1.455-31.026) and fatty filum terminale (OR=6.281, p<0.001, 95%CI=2.263-17.430) were risk factors for RUTI. Conclusions:In ARMs patients, male is the only risk factor to the occurrence of UTI in children before anorectoplasty. And children with VUR, tethered cord and fatty filum terminal are more likely to have recurrent urinary tract infections.

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