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Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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, but...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

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 sinusitis...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

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Development of a multidisciplinary syllabus to support the education and training of roles in cystic fibrosis care: An ECFS Education initiative.

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Longer term follow-up of abdominal symptoms (CFAbd-Score) after initiation of Elexacaftor / Tezacaftor / Ivacaftor in adults with cystic fibrosis.

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Related Experiment Video

Updated: Jun 12, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

Cystic fibrosis co-existing with trisomy 21.

E L Guy1, D G Peckham, K G Brownlee

  • 1Leeds Regional Cystic Fibrosis Centre, St James's University Hospital, Leeds, LS9 7TF, UK. emma_clubley@hotmail.com

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|June 12, 2010
PubMed
Summary

This case study highlights a 25-year-old male with cystic fibrosis and trisomy 21, surviving well beyond previous reports. His survival challenges current understanding of this dual diagnosis prognosis.

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Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
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Last Updated: Jun 12, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

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Published on: April 11, 2018

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

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Published on: May 10, 2014

Area of Science:

  • Genetics and rare disease research.
  • Pediatric and adult medicine.
  • Clinical case study methodology.

Background:

  • The co-occurrence of cystic fibrosis (CF) and full trisomy 21 (Down syndrome) has historically been associated with a severe prognosis in children.
  • Previous reports indicate a high mortality rate in infancy, with limited survival beyond 6 years.

Observation:

  • A young man with genetically confirmed trisomy 21 and homozygous for the F508del CF mutation is presented.
  • Diagnosis of cystic fibrosis was delayed until 2 years of age.

Findings:

  • The patient has transitioned to adult services and is currently 25 years old.
  • Despite delayed diagnosis, he demonstrates extended survival compared to previously reported cases.
  • He currently experiences poor lung function and requires continuous ambulatory oxygen.

Implications:

  • This case challenges the established poor prognosis for individuals with combined cystic fibrosis and trisomy 21.
  • It suggests potential factors influencing survival in this complex genetic condition.
  • Further research is warranted to understand the long-term outcomes and management strategies for this patient population.