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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

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Juvenile polyposis syndrome.

Vijai D Upadhyaya1, A N Gangopadhyaya, S P Sharma

  • 1Department of Pediatric Surgery, IMS, BHU, Varanasi, India.

Journal of Indian Association of Pediatric Surgeons
|December 17, 2009
PubMed
Summary
This summary is machine-generated.

Single-stage total colectomy is a safe treatment for juvenile polyposis coli. This procedure, involving rectal mucosectomy and ileoanal pull-through, offers definitive management with good long-term continence outcomes.

Keywords:
Ileal pouchjuvenile polyposis syndromeprophylactic surgery

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Area of Science:

  • Colorectal Surgery
  • Pediatric Gastroenterology
  • Surgical Oncology

Background:

  • Juvenile polyposis coli (JPC) is a rare inherited gastrointestinal disorder.
  • JPC is characterized by the development of numerous hamartomatous polyps in the colon and rectum.
  • These polyps carry a significant risk of malignant transformation, necessitating surgical intervention.

Purpose of the Study:

  • To report the outcomes of a series of 12 patients with JPC treated surgically.
  • To evaluate the safety and efficacy of a specific surgical technique for JPC.
  • To assess postoperative complications and functional outcomes, including continence.

Main Methods:

  • A retrospective review of 12 JPC cases treated between 1995 and 2005.
  • Surgical intervention involved single-stage total colectomy with rectal mucosectomy and endorectal ileoanal pull-through.
  • The procedure was performed without a covering ileostomy or ileal pouch formation in all cases.

Main Results:

  • The mean operative time was 4.2 hours, with a mean hospital stay of 16.3 days.
  • Common postoperative complications included pouchitis and perianal excoriation.
  • Patients demonstrated progressive improvement in stool frequency and continence over the follow-up period.

Conclusions:

  • Single-stage total colectomy with rectal mucosectomy and endorectal ileoanal pull-through is a safe and effective treatment for JPC.
  • The technique, when applied to carefully selected patients, provides definitive management.
  • Avoiding covering ileostomy and pouch formation in this context appears feasible and safe.