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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,...
Sex-linked Disorders01:43

Sex-linked Disorders

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.
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Related Experiment Video

Updated: Jul 15, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
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Juvenile polyposis syndrome: A case report.

Edwin Mogere1, Elijah Mwaura2, Mark Waithaka2

  • 1Murang'a Level 5 Hospital Murang'a Kenya.

Clinical Case Reports
|January 9, 2023
PubMed
Summary

Juvenile polyposis syndrome (JPS) is a genetic disorder causing numerous hamartomatous polyps. Individuals with JPS face a higher risk of colorectal and gastric cancers, necessitating surgical intervention.

Keywords:
colon cancergastroenterologyjuvenile polyposis syndrome

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Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Juvenile polyposis syndrome (JPS) is an autosomal dominant inherited condition.
  • It is characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract.

Observation:

  • Patients diagnosed with JPS exhibit an elevated risk for developing colorectal and gastric cancers.
  • Diagnosis is typically confirmed through endoscopic visualization and histological examination of polyps.

Findings:

  • The study details a case of JPS managed with surgical intervention.
  • The surgical procedure included a total proctocolectomy with an ileal pouch-anal anastomosis.

Implications:

  • Early diagnosis and management of JPS are crucial for cancer risk reduction.
  • Surgical options like proctocolectomy and ileal pouch-anal anastomosis can be effective in managing severe JPS cases.
  • Further research into genetic counseling and long-term surveillance for JPS patients is warranted.