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2011-03-16 13:41:41

University of Manchester scientists have led an international team to discover new treatments for a rare and potentially lethal childhood disease that is the clinical opposite of diabetes mellitus. Congenital hyperinsulinism (CHI) is a condition where the body's pancreas produces too much insulin "“ rather than too little as in diabetes "“ so understanding the disease has led to breakthroughs in diabetes treatment. This latest study, published in the journal Diabetes today...

2011-02-23 07:01:00

Patients on drug had significant weight gain, reduced sweat chloride and were less likely to experience a pulmonary exacerbation BETHESDA, Md., Feb. 23, 2011 /PRNewswire-USNewswire/ -- The Cystic Fibrosis Foundation and Vertex Pharmaceuticals announced today that VX-770, an oral medicine in development that targets the defective protein that causes cystic fibrosis, showed promising results in a Phase 3 clinical trial. The trial was designed to evaluate patients age 12 and up who carry...

2011-02-09 13:32:36

Long QT syndrome approximately affects one in every 2,500 people ­-mainly young people. It can cause torsade de pointes episodes, which can trigger sudden death. This study was conducted by researchers of the Hospital Virgen de las Nieves of the University of Granada. The genetic analyses were performed by the laboratory Lorgen in the Health Science Technology Park of Granada Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the...

2011-01-21 14:34:57

Screening may be warranted when the disease runs in families Mutations in a gene called INF2 are by far the most common cause of a dominantly inherited condition that leads to kidney failure, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology (JASN). The results may help with screening, prevention, and therapy. Focal segmental glomerulosclerosis (FSGS) attacks the kidney's filtering system and causes serious scarring. Approximately 20,000...

2010-11-29 16:00:00

SAN CLEMENTE, Calif., Nov. 29, 2010 /PRNewswire/ -- SURFER Magazine is proud to announce this year's SURFER Poll Agent of Change Award to James Dunlop (Executive Director of MOF) and Charles Dunlop (CEO of Ambry Genetics), founders of the Mauli Ola Foundation (MOF). The Foundation will benefit from the proceeds of VIP table sales, and their award will be presented on December 6, 2010 at the 40th annual event. The Agent of Change Award honors organizations and individuals who are working...

2010-11-18 14:01:24

An investigational drug targeting a defective protein that causes cystic fibrosis has been shown to improve lung function in a small study of CF patients, according to findings published Nov. 18, 2010, in the New England Journal of Medicine. The investigational drug, VX-770, appeared to improve function of what is known as CFTR--the faulty protein responsible for CF. It is among the first compounds being developed for CF that specifically targets the root cause of cystic fibrosis. Patients...

2010-11-11 09:00:00

ABBOTT PARK, Ill., Nov. 11, 2010 /PRNewswire/ -- Abbott today awarded the 2010 Thriving Student Achiever Scholarship to Jason Egbert, a student with cystic fibrosis who demonstrates exceptional academic achievement, community service, creative and artistic talent and passion for inspiring others. Jason Egbert from Rexburg, Idaho, was selected for the Thriving Student Achiever Scholarship from a group of 40 outstanding students with cystic fibrosis (CF) who were awarded scholarships...

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2010-11-03 09:20:00

A new implant designed to help the blind has allowed three test patients to see the shapes of objects just days after they were fitted with the device, research published in the British scientific journal Proceedings of the Royal Society B has revealed. The implants, which were developed by engineers at German's University of Tuebingen and medical technology firm Retina Implant AG, represent "an unprecedented advance in electronic visual prostheses" and could "eventually revolutionize the...

2010-10-18 13:56:14

Oct. 18 AAO-MEACO 2010 Joint Meeting scientific program Today's Scientific Program of the 2010 American Academy of Ophthalmology (AAO) - Middle East-Africa Council of Ophthalmology (MEACO) Joint Meeting includes a report on beta carotene's ability to improve vision in people with certain incurable retinal diseases. The AAO-MEACO meeting"“the world's largest, most comprehensive ophthalmic education conference"“is in session October 16 through 19 at McCormick Place, Chicago. 9-cis...

2010-10-04 10:26:00

ROCKVILLE, Md., Oct. 4 /PRNewswire-USNewswire/ -- Human growth hormone can be used successfully to treat some symptoms of cystic fibrosis, but its impact on the disease itself remains unknown, according to a new report funded by HHS' Agency for Healthcare Research and Quality (AHRQ). Cystic fibrosis is an inherited chronic multi-organ disease, caused by a defective gene, in which the body produces thick mucus that clogs the lungs and leads to life-threatening lung infections. The disease...


Latest Channelopathy Reference Libraries

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
callithump
  • A somewhat riotous parade, accompanied with the blowing of tin horns, and other discordant noises; also, a burlesque serenade; a charivari.
'Callithump' is a back-formation of 'callithumpian,' a 'fanciful formation' according to the Oxford English Dictionary. However, the English Dialect Dictionary, says 'Gallithumpians' is a Dorset and Devon word from the 1790s that refers to 'a society of radical social reformers' or 'noisy disturbers of elections and meetings.'
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