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Related Concept Videos

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
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Cystic Fibrosis: Pathogenesis01:23

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Sulfur is an essential element in biological systems, contributing to synthesizing key biomolecules, including amino acids such as cysteine and methionine, and cofactors such as coenzyme A and biotin. Microorganisms primarily assimilate sulfur as sulfate (SO₄²⁻) from the environment, which must undergo a series of biochemical transformations before it can be incorporated into cellular components. As sulfate is highly oxidized, it must undergo assimilatory sulfate reduction to...
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Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

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In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
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Related Experiment Video

Updated: Feb 22, 2026

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
15:12

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Structured Transition Protocol for Children with Cystinosis.

Rupesh Raina1,2, Joseph Wang3,4, Vinod Krishnappa2

  • 1Department of Pediatric Nephrology, Akron Children's Hospital, Akron, OH, United States.

Frontiers in Pediatrics
|September 16, 2017
PubMed
Summary
This summary is machine-generated.

Transitioning pediatric to adult care for cystinosis patients is crucial. A new protocol, RISE, focuses on medical, social, and educational needs to improve adherence and health outcomes.

Keywords:
adolescentchronic disease self-managementpediatrictransition caretransition clinic

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Area of Science:

  • Pediatric to adult healthcare transition
  • Chronic disease management
  • Patient adherence and outcomes

Background:

  • Adolescents and young adults with chronic diseases face significant challenges during the transition from pediatric to adult medical care.
  • This transition period, marked by psychosocial development and increased responsibilities, heightens the risk of non-adherence to medical regimens.
  • Non-adherence in cystinosis patients can precipitate severe complications, including graft loss and disease progression.

Purpose of the Study:

  • To introduce a structured transition protocol for cystinosis patients.
  • To provide a guide for patients, families, and healthcare providers involved in the transition process.
  • To enhance the overall well-being of cystinosis patients by addressing medical, social, and educational/vocational aspects.

Main Methods:

  • Development of a structured transition protocol based on four core competencies: Recognition, Insight, Self-reliance, and Establishment of healthy habits (RISE).
  • Focus on integrating medical, social, and educational/vocational support systems.
  • The protocol is designed as a guide, acknowledging it has not yet been formally tested.

Main Results:

  • The protocol aims to mitigate risks associated with the transition period, such as non-adherence.
  • Anticipated improvement in patient outcomes by addressing a holistic range of needs.
  • Identification of potential challenges is ongoing due to the protocol's untested nature.

Conclusions:

  • A structured approach is necessary to support cystinosis patients during their transition to adult care.
  • The RISE protocol offers a framework to improve adherence and manage chronic diseases effectively.
  • Further research and testing are required to validate the protocol's efficacy in real-world settings.