The neural crest in pediatric surgery

Tovar, Juan A.

doi:10.1016/j.jpedsurg.2007.01.022

Cited by 19 publications

(2 citation statements)

References 188 publications

(202 reference statements)

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“…It is well‐documented that failed neural crest cell migration can result in a variety of gastrointestinal tract defects, including pharyngeal arch abnormalities, esophageal atresia, and hypoganglionosis, leading to congenital megacolon (Chabra & Kenny, ; Tam, ; Tovar, ). A close embryonic correlate to the hypoganglionosis seen in the proband is Hirschsprung disease, a developmental disorder of the enteric nervous system in which the gastrointestinal tract fails to be innervated, has decreased motility, and children present with constipation.…”

Section: Discussionmentioning

confidence: 99%

“…RARB binds to retinoic acid (RA), the biologically active form of vitamin A. RA vitally guides fetal development, directing ventral‐dorsal, as well as cranial‐caudal differentiation via regulation of homeobox genes. Specifically, RA is essential to brain, ear, eye, face, heart, diaphragm, lung, gut, and limb development (Tovar, ). Additionally, RA acts as an inhibitor of bone morphogenetic protein (BMP), allowing for BMP gradients to specify neural crest cell development (Sheng et al, ).…”

Section: Introductionmentioning

confidence: 99%

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Retinoic acid receptor beta variant‐related colonic hypoganglionosis

Foster

Zhang

Braddock

et al. 2019

American J of Med Genetics Pt A

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Present addressGeneDx, Gaithersburg, MD 20877. Retinoic acid receptor beta (RARB) variants are heavily linked to pathologies of neural crest cell migration. The purpose of this report is to present a 23-month-old male with the previously described R387C RARB gain-of-function variant whose gastrointestinal issues and long-term constipation lead to the discovery of colonic hypoganglionosis. This case further delineates the pattern of malformation associated with RARB variants. The findings are also consistent with the known etiology of aganglionic colon due to failed neural crest cell migration. K E Y W O R D Shypoganglionosis, RARB, retinoic acid

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Retinoic acid receptor beta variant‐related colonic hypoganglionosis

Foster

Zhang

Braddock

et al. 2019

American J of Med Genetics Pt A

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Biomarkers of the one‐carbon pathway in association with congenital diaphragmatic hernia

Beurskens

Jonge

Schoonderwaldt

et al. 2012

Birth Defects Research

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Homocysteine is an intermediate of the one‐carbon (1‐C) pathway and increased concentrations have been related to neural crest‐related congenital anomalies. The neural crest and the 1‐C pathway might be involved also in the etiology of Congenital Diaphragmatic Hernia (CDH). In 22 CDH and 28 control newborns and their mothers, general characteristics were obtained by standardized questionnaires. The 1‐C pathway intermediates total homocysteine (tHcy), S‐adenosylmethionine (SAM), and S‐adenosylhomocysteine (SAH) were determined in cord blood. Correlations between maternal and newborn factors and risk estimates were investigated by univariate and multivariable logistic regression analyses. Birth weight (2962 vs. 3418 gram; p < 0.001) was lower and gestational age (270 vs. 277 days; p = 0.006) was shorter in case children. Control mothers were slightly older (32 vs. 35 year; p = 0.05). Other characteristics were comparable between case and control children and mothers. The concentrations of homocysteine, SAM and SAH, and the SAM/SAH ratio were comparable (tHcy: 8.57 vs. 8.56 μmol/l, p = 0.99; SAM: 152.7 vs. 157.3 nmol/l, p = 0.76; SAH: 43.5 vs. 48.9, p = 0.26; ratio: 3.8 vs. 3.5, p = 0.50). Maternal and newborn characteristics were not correlated to the biomarker concentrations. In conclusion, the biomarkers of methylation determined in cord blood are not associated with CDH risk. Maternal and child characteristics could not predict newborn biomarker concentrations of the 1‐C pathway. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc.

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Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review

et al. 2008

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CHARGE association and DiGeorge syndrome (DGS) rarely occur together and only eight cases have been reported in the English literature. Two were associated with esophageal atresia (EA) and severe congenital heart anomalies. We report a third case of EA with tracheoesophageal fistula (EA-TEF) associated with coarctation of the aorta (CoA), CHARGE association, and DGS. The challenge for management in this complicated case is the background DGS which influences surgical outcome because of Ca++ imbalance and immune deficiency that can be life-threatening and require bone marrow transplantation.

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The neural crest in pediatric surgery

Cited by 19 publications

References 188 publications

Retinoic acid receptor beta variant‐related colonic hypoganglionosis

Retinoic acid receptor beta variant‐related colonic hypoganglionosis

Biomarkers of the one‐carbon pathway in association with congenital diaphragmatic hernia

Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review

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