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Related Concept Videos

Assessment of the Rectum and Anus01:25

Assessment of the Rectum and Anus

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Evaluating the rectum and anus plays a crucial role in conducting a thorough physical examination of the gastrointestinal system. Although it may be uncomfortable and often embarrassing for the patient, it holds immense diagnostic value, particularly in detecting gastrointestinal diseases and abnormalities. This guide will explain how to perform this assessment using inspection and palpation methods.
Rectal Inspection
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After spending 3 to 10 hours in the large intestine, chyme loses a lot of water and becomes feces, the final product of digestion. Feces consist of undigested dietary fiber such as cellulose, mucus, sloughed-off epithelial cells, and microbes. The descending and sigmoid colon stores feces and uses haustral contractions to dry it out but retains enough water to give it a semi-solid texture.
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Updated: Jun 6, 2025

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
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Anorectal malformations.

Ivo de Blaauw1, Pernilla Stenström2, Atsuyuki Yamataka3

  • 1Department of Surgery, Division of Paediatric Surgery, Radboudumc-Amalia Children's Hospital, Nijmegen, the Netherlands. ivo.deblaauw@radboudumc.nl.

Nature Reviews. Disease Primers
|November 21, 2024
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Summary
This summary is machine-generated.

Anorectal malformations (ARM) are rare congenital birth defects affecting the anus and rectum. Further research is needed to improve prenatal detection, understand genetic causes, and enhance surgical outcomes and quality of life for affected individuals.

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Area of Science:

  • Pediatric Surgery
  • Developmental Biology
  • Medical Genetics

Background:

  • Anorectal malformations (ARM) are congenital anomalies affecting the anus and rectum, with a prevalence of 3.32 per 10,000 pregnancies.
  • These malformations represent a spectrum of developmental defects originating from aberrant hindgut septation during early gestation.
  • While some cases are linked to genetic syndromes, the etiology of most non-syndromic ARM remains unclear.

Purpose of the Study:

  • To review the current understanding of Anorectal Malformations (ARM).
  • To highlight diagnostic challenges and current surgical management.
  • To emphasize the need for improved outcomes and further research.

Main Methods:

  • Clinical diagnosis based on perineal inspection.
  • Review of surgical techniques, including posterior sagittal anorectoplasty and minimally invasive approaches.
  • Analysis of current outcomes and recognized needs for improvement.

Main Results:

  • ARM diagnosis is typically made postnatally; prenatal detection remains limited.
  • Posterior sagittal anorectoplasty is the standard surgical repair, with evolving minimally invasive adaptations.
  • Functional outcomes and quality of life require further enhancement.

Conclusions:

  • Continued research is essential to improve prenatal diagnosis of ARM.
  • Elucidating genetic and epigenetic factors is crucial for understanding ARM etiology.
  • Optimizing surgical procedures and addressing psychosocial aspects are vital for improving patient care.