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Related Concept Videos

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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,...
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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

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Related Experiment Video

Updated: Jul 2, 2026

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

Published on: August 20, 2018

Familial polyposis: a case study.

Zehava Ben Meir1, Anna Garber, Michal Rassin

  • 1Assaf Harofe Medical Center, Zerifin, Be'er Ya'akov, Israel.

Gastroenterology Nursing : the Official Journal of the Society of Gastroenterology Nurses and Associates
|August 19, 2008
PubMed
Summary

This case study details the 5-year care of a familial polyposis patient, highlighting challenges in nutrition and body image. Innovative nursing interventions improved quality of life despite disease progression.

Related Experiment Videos

Last Updated: Jul 2, 2026

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

Published on: August 20, 2018

Area of Science:

  • Gastroenterology and Hepatology
  • Clinical Nursing
  • Patient Care Management

Background:

  • Familial polyposis is an inherited condition predisposing individuals to colorectal cancer.
  • Early diagnosis and management are crucial for improving patient outcomes.
  • Psychosocial factors, such as body image, significantly impact treatment adherence and quality of life.

Observation:

  • A 35-year-old male with a family history of familial polyposis presented with symptoms and a poor response to treatment, particularly in nutritional management.
  • The patient experienced significant challenges with body image, impacting his overall well-being.
  • Nursing staff implemented creative strategies, including a unique bandaging method, to manage multiple fistulae and preserve skin integrity.

Findings:

  • Despite aggressive treatment and nursing interventions, the patient's condition deteriorated over five years, culminating in his death.
  • The case highlights the complex interplay between the physical manifestations of familial polyposis, nutritional deficits, and psychological distress.
  • Innovative wound care and patient support were central to the nursing management approach.

Implications:

  • This case underscores the importance of a multidisciplinary approach in managing complex gastrointestinal conditions like familial polyposis.
  • Effective nursing care, focusing on both physical symptoms and psychosocial needs, can enhance patient quality of life.
  • Sharing such case studies provides valuable insights for healthcare professionals managing similar challenging patient scenarios.