Cystic Fibrosis

Study: Paying for transgender health care cost-effective

A new analysis led by the Johns Hopkins Bloomberg School of Public Health suggests that while most U.S. health insurance plans deny benefits to transgender men and women for medical care necessary to transition to the opposite ...

Nov 24, 2015
popularity31 comments 0

Services insufficient in supporting those affected

There is an urgent need to do more to recognize prenatal alcohol exposure at an early stage and to integrate better pathways for diagnosis, assessment and support, finds a special issue of the SAGE journal Adoption & Fostering. ...

Nov 10, 2015
popularity11 comments 0

Defining precision medicine

When President Obama uttered the words "Precision Medicine" in the state-of-the-union address, I scoffed at a politician's finally noticing a field that's been around for decades: medical genetics. Was it another case of ...

Sep 25, 2015
popularity7 comments 0

Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions.

The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body.

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance.

CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF.

The World Health Organization states that "In the European Union 1 in 2000-3000 newborns is found to be affected by CF".

Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

New target could eliminate lurking cancer stem cells

Scientists from Trinity College Dublin have identified a novel target that could help to identify 'cancer stem cells' while they are in their inactive state. The scientists could then jolt these cells into action so that ...

How can I tell if she's lying?

Sarcasm, white lies and teasing can be difficult to identify for those with certain disorders – new video inventory developed at McGill may help

Functional human liver cells grown in the lab

In new research appearing in the prestigious journal Nature Biotechnology, an international research team led by The Hebrew University of Jerusalem describes a new technique for growing human hepatocytes in the laboratory. ...

Combination therapy can prevent cytostatic resistance

Researchers at Karolinska Institutet have found a new way of preventing resistance to cytostatics used in the treatment of cancers such as medulloblastoma, the most common form of malignant brain tumour in children. The promising ...