PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “ANUS, IMPERFORATE”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 217 records · Page 12Linked to original sources
PubMed2002

Tetralogy of Fallot, imperforate anus, and Müllerian, renal, and cervical spine (MURCS) anomalies in a 15-year-old girl.

STUDY OBJECTIVE: To examine the etiology of MURCs anomalies and the management of a patient with these anomalies as well as cardiac and anorectal abnormalities causing primary amenorrhea and abdominal pain. DESIGN: Case study. RESULT: Relief of pelvic pain following GnRH agonist therapy and continuous oral contraceptives. CONCLUSION: MURCS (Müllerian, Renal, Cervical Spine) is a well-described grouping of multi-organ, nonlethal abnormalities that are infrequently detected in women with menstrual abnormalities. The association of MURCS with cardiac and anorectal abnormalities may be one of coincidence or may indicate that the abnormalities share common genetic or environmental (cellular or microbiologic) etiologies.

Abnormalities, Multiple↗
PubMed2002

Clarification of the processes that lead to anorectal malformations in the ETU-induced rat model of imperforate anus.

BACKGROUND: Ethylenethiourea (ETU) administered to timed-pregnant rats can induce anorectal malformations (ARMs) in about 80% of rat fetuses, thus providing an ideal animal model to study the embryogenesis of ARMs. The current study was undertaken to investigate the embryogenetic events that may be responsible for the development of ARMs in rats. METHODS: Time-mated pregnant rats were divided randomly into control and experimental groups. The experimental rats received 1% ETU (125 mg/kg) by gavage on gestational day 10, and control rats received only the vehicle. Their embryos were harvested by cesarean section on gestational days 13, 14, 15, and 16. They were fixed and embedded in paraffin and serially sectioned in either the sagittal or transverse plane. The sections were stained with H&E, examined, and photographed. The comparative morphogenesis of the hindgut, cloaca, and tailgut of age-matched embryos was studied. RESULTS: The key abnormalities in the experimental embryos were: (1) maldevelopment of cloaca and urorectal septum with no sign of the fusion between the urorectal septum and the cloacal membrane, (2) delay of tailgut regression, (3) abnormal and massive apoptotic cell death involving the posterior cloacal wall, and (4) underdevelopment of the dorsal aspect of the cloaca and its membrane. The type of ARM that was developing was discernible by gestational day 15 and 16. CONCLUSIONS: ARMs induced by ETU in rat embryos seem to be caused by the cumulative effect of aberrations in the development of several components of the hindgut and cloaca. Variation in the extent of maldevelopment of these structures may result in a spectrum of ARMs.

Anal Canal↗
PubMed2002

Laparoscopic repair of high imperforate anus.

Numerous laparoscopic operations have replaced the traditional open procedure in both adults and children. These new procedures have allowed access to body cavities without significantly traumatizing intervening tissue. The laparoscopically assisted anorectal pull-through (LAARP) for high anorectal malformations (ARM) uses fundamental concepts learned from decades of high ARM repair and incorporates modern technologic advancements in surgical instrumentation and techniques. This laparoscopic approach offers good visualization of an infant's deep pelvis with a reconstruction technique that minimizes trauma to important surrounding structures. The laparoscopic repair can be completed in one stage, 2 stages, or 3 stages. Currently, either the 2-stage or 3-stage operation is recommended. With the 3-stage approach, a temporary colostomy is created initially followed by LAARP in several weeks to months. The colostomy then is closed several months later.

Anus, Imperforate↗
PubMed2005

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin eruption. We have identified seven patients with this phenotype in four families from different geographic regions and ethnic backgrounds. This is an autosomal recessive condition that brings together apparently opposing pathophysiologic and developmental processes, including accelerated suture closure and delayed ossification. Selected candidate genes--including RUNX2, CBFB, MSX2, ALX4, TWIST1, and RECQL4--were screened for mutations, by direct sequencing of their coding regions, and for microdeletions, by fluorescent in situ hybridization. No mutations or microdeletions were detected in any of the genes analyzed. A genomewide screen yielded the maximum estimated LOD score of +2.38 for markers D22S283 and D22S274 on chromosome 22q12-q13. We hypothesize that the gene defect in this condition causes novel context-dependent dysregulation of multiple signaling pathways, including RUNX2, during osteoblast differentiation and craniofacial morphogenesis.

Abnormalities, Multiple↗
PubMed1958

Imperforate anus.

Explore the source record for details and available documents.

Anal Canal↗