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Latest Channelopathy Stories

2006-01-18 17:45:00

By Karla Gale NEW YORK (Reuters Health) - People with cystic fibrosis suffer from mucus build-up in the lungs that makes breathing difficult, but investigators now report that salt water can ease the condition. Long-term inhaled saline with a 'hypertonic' salt concentration of 7 percent improves lung function and reduces pulmonary flare-ups in patients with cystic fibrosis, according to a report in this week's New England Journal of Medicine. Short-term studies have suggested that hypertonic...

2005-08-16 15:01:34

PITTSBURGH, Aug. 16 "“ University of Pittsburgh researchers have discovered a gene linked to age-related maculopathy (ARM), the leading cause of untreatable blindness in the elderly. Their discovery suggests a simple test might be able to identify those at risk for what is commonly known as macular degeneration (AMD) and may lead to the development of more effective preventive strategies. Researchers report that variations of a gene called PLEKHA1 are strongly associated with a...

2005-07-13 15:25:00

New Haven, Conn. - Yale School of Medicine researchers report the first demonstration that a single mutation in a human sodium channel gene can trigger pain in people with an inherited pain syndrome known as primary erythromelalgia, according to a study published this month in the journal Brain. The research provides novel insights into the molecular basis for altered firing of pain signaling neurons in primary erythromelalgia, according to Stephen Waxman, M.D., senior author of the study,...

2005-06-30 13:40:00

Children's Hospital of Pittsburgh and University of Pittsburgh researchers have identified a highly specific pathway that causes inflammation in lung tissue, a discovery that could help in the design of more targeted treatments for patients with various lung diseases, including cystic fibrosis (CF). Their results, which also confirmed this novel pathway may contribute to lung damage in adult patients with cystic fibrosis (CF), are being published in the July issue of The Journal of...

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2005-05-08 11:30:00

Device allows formerly blind patients to see, identify objects HealthDay News -- An "artificial retina" is helping six previously blind patients detect light, identify objects and perceive motion, researchers announced Friday. "If you project a long, 2-foot bar of light on a projector, they can tell which way the light bar moves, right or left, up or down. They can detect motion," said lead researcher Dr. Mark Humayun, an ophthalmology professor at the University of Southern California's...

2004-11-27 15:00:09

Inherited heart defects may be killing up to 80 young New Zealanders a year but many deaths go undiagnosed -- putting relatives who carry the faulty gene at risk. Sudden deaths of healthy, young people are being attributed to drowning, epilepsy or even cot death while the underlying inherited cardiac condition remains undetected. Leading cardiologist Dr Jon Skinner, of Auckland's Green Lane Hospital, is calling for a national co- ordinator to identify sudden deaths and for money for...

2004-11-25 15:00:08

Moran Eye Center researchers have found gene mutations that result in retinitis pigmentosa (RP), one of the leading causes of blindness. The discovery has raised fears that medications commonly used to treat both heart disease and glaucoma may trigger the eye disease in even those without the mutation because of similarities in what the mutations and the drugs do to the eyes. The research, published in the online version of Human Molecular Genetics Wednesday, says each gene mutation...


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Cystic Fibrosis
2013-07-19 15:03:45

Cystic fibrosis, also called mucoviscidosis, is an autosomal recessive genetic disorder of the viscous secretions in the body. In turn, it effects the lungs, pancreas, liver, and intestines, as well as all other exocrine glands in the body. The most common genetic mutation that causes CF is a deletion of three nucleotides that results in a loss of phenylalanine, an amino acid at the 508th position on the protein. It should be noted, however, that there are over a thousand other mutations that...

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Word of the Day
endocarp
  • The hard inner (usually woody) layer of the pericarp of some fruits (as peaches or plums or cherries or olives) that contains the seed.
This word comes from the Greek 'endon,' in, within, plus the Greek 'kardia,' heart.
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