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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420408PMC

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Introduction And Importance: The branchial or pharyngeal apparatus, crucial in embryological development, consists of clefts, arches, pouches, and membranes. Anomalies arising from this apparatus particularly involving the second branchial arch, are rare. Among these anomalies, complete second branchial cleft fistulas, with both external and internal openings, are exceptionally uncommon.

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Objectives: In the last two decades, scientists have gained a better understanding of several aspects of pituitary development. The signaling pathways that govern pituitary morphology and development have been identified, and the compensatory relationships among them are now known.

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22q11.2 deletion syndrome (22q11.2DS) is one of the most common congenital malformation syndromes resulting from disrupted embryonic development of pharyngeal pouches.

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Background: Esophageal atresia is one of the most common life-threatening congenital malformations and is defined as an interruption in the continuity of the esophagus with or without fistula to the trachea or bronchi. Definitive treatment is surgical ligation of the fistula if present and esophageal end-to-end anastomosis of the two pouches, thereby reconstructing the continuity of the esophagus. During this procedure, the surgeon may choose to either ligate or preserve the azygos vein, a major draining vein for the esophagus and surrounding structures, but no definitive consensus on the matter exists.

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Article Synopsis
  • The study focuses on the genetic underpinnings of congenital pouch colon (CPC), highlighting the lack of research in this area despite extensive clinical documentation.
  • A total of 20 cases of CPC and 52 controls were analyzed, revealing multiple genetic variants in 11 significant genes linked to critical functions like mucosal barrier integrity and colonic muscle development.
  • The results suggest that validating these findings with larger, diverse clinical samples and functional studies is essential to understand the genetic factors contributing to CPC better.
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