A proposed mechanism for intermediate atresia ani (AA), based on a porcine case of AA and hypospadias

BACKGROUND Atresia Ani (AA) is one of the most common malformations of the lower gastrointestinal tract. It occurs in 1 in 1500 to 1 in 5000 human births. These patients suffer physically and psychologically from this disorder, and thus there is a research interest in the condition. There are 3 subc...

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Veröffentlicht in:Birth defects research. A Clinical and molecular teratology 2005-06, Vol.73 (6), p.434-439
Hauptverfasser: Finnigan, Daniel F., Fisher, Ken R.S., Vrablic, Olga, Halina, Winn G., Partlow, Gary D.
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container_end_page 439
container_issue 6
container_start_page 434
container_title Birth defects research. A Clinical and molecular teratology
container_volume 73
creator Finnigan, Daniel F.
Fisher, Ken R.S.
Vrablic, Olga
Halina, Winn G.
Partlow, Gary D.
description BACKGROUND Atresia Ani (AA) is one of the most common malformations of the lower gastrointestinal tract. It occurs in 1 in 1500 to 1 in 5000 human births. These patients suffer physically and psychologically from this disorder, and thus there is a research interest in the condition. There are 3 subcategories of AA: high, intermediate, and low. Each of these forms is likely related to separate etiological processes. METHODS An anatomical study was performed on a porcine case of AA with a urorectal fistula and malformed urethra. RESULTS This animal was found to have the intermediate form of AA. CONCLUSIONS A new mechanism is hypothesized, distinct from that described for the high and low forms of AA. This proposed mechanism involves the persistence of the cloacal membrane. Evidence to support this hypothesis includes: location of the urorectal fistula in the region of the embryonic cloacal duct, the lack of anomalies usually seen in conjunction with AA associated with mutations of the Sonic Hedgehog gene, and the presence of a malformed urethra, which is significantly correlated to intermediate AA. This form of AA could be related to a failure of the cloacal membrane to break down at the appropriate time during urorectal separation. Birth Defects Research (Part A), 2005. © 2005 Wiley‐Liss, Inc.
doi_str_mv 10.1002/bdra.20129
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It occurs in 1 in 1500 to 1 in 5000 human births. These patients suffer physically and psychologically from this disorder, and thus there is a research interest in the condition. There are 3 subcategories of AA: high, intermediate, and low. Each of these forms is likely related to separate etiological processes. METHODS An anatomical study was performed on a porcine case of AA with a urorectal fistula and malformed urethra. RESULTS This animal was found to have the intermediate form of AA. CONCLUSIONS A new mechanism is hypothesized, distinct from that described for the high and low forms of AA. This proposed mechanism involves the persistence of the cloacal membrane. Evidence to support this hypothesis includes: location of the urorectal fistula in the region of the embryonic cloacal duct, the lack of anomalies usually seen in conjunction with AA associated with mutations of the Sonic Hedgehog gene, and the presence of a malformed urethra, which is significantly correlated to intermediate AA. This form of AA could be related to a failure of the cloacal membrane to break down at the appropriate time during urorectal separation. Birth Defects Research (Part A), 2005. © 2005 Wiley‐Liss, Inc.</description><identifier>ISSN: 1542-0752</identifier><identifier>EISSN: 1542-0760</identifier><identifier>DOI: 10.1002/bdra.20129</identifier><identifier>PMID: 15880702</identifier><identifier>CODEN: BDRPBT</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Animals ; Anus, Imperforate - etiology ; Anus, Imperforate - pathology ; atresia ani ; Biological and medical sciences ; Disease Models, Animal ; Embryology: invertebrates and vertebrates. Teratology ; Fundamental and applied biological sciences. Psychology ; gastrointestinal malformation ; hypospadias ; Hypospadias - etiology ; Hypospadias - pathology ; Male ; Swine ; Teratology. Teratogens ; urethral malformation ; urogenital malformation ; urorectal malformation</subject><ispartof>Birth defects research. 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A Clinical and molecular teratology</title><addtitle>Birth Defects Research Part A: Clinical and Molecular Teratology</addtitle><description>BACKGROUND Atresia Ani (AA) is one of the most common malformations of the lower gastrointestinal tract. It occurs in 1 in 1500 to 1 in 5000 human births. These patients suffer physically and psychologically from this disorder, and thus there is a research interest in the condition. There are 3 subcategories of AA: high, intermediate, and low. Each of these forms is likely related to separate etiological processes. METHODS An anatomical study was performed on a porcine case of AA with a urorectal fistula and malformed urethra. RESULTS This animal was found to have the intermediate form of AA. CONCLUSIONS A new mechanism is hypothesized, distinct from that described for the high and low forms of AA. This proposed mechanism involves the persistence of the cloacal membrane. Evidence to support this hypothesis includes: location of the urorectal fistula in the region of the embryonic cloacal duct, the lack of anomalies usually seen in conjunction with AA associated with mutations of the Sonic Hedgehog gene, and the presence of a malformed urethra, which is significantly correlated to intermediate AA. This form of AA could be related to a failure of the cloacal membrane to break down at the appropriate time during urorectal separation. Birth Defects Research (Part A), 2005. © 2005 Wiley‐Liss, Inc.</description><subject>Animals</subject><subject>Anus, Imperforate - etiology</subject><subject>Anus, Imperforate - pathology</subject><subject>atresia ani</subject><subject>Biological and medical sciences</subject><subject>Disease Models, Animal</subject><subject>Embryology: invertebrates and vertebrates. Teratology</subject><subject>Fundamental and applied biological sciences. 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subjects Animals
Anus, Imperforate - etiology
Anus, Imperforate - pathology
atresia ani
Biological and medical sciences
Disease Models, Animal
Embryology: invertebrates and vertebrates. Teratology
Fundamental and applied biological sciences. Psychology
gastrointestinal malformation
hypospadias
Hypospadias - etiology
Hypospadias - pathology
Male
Swine
Teratology. Teratogens
urethral malformation
urogenital malformation
urorectal malformation
title A proposed mechanism for intermediate atresia ani (AA), based on a porcine case of AA and hypospadias
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