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Latest Lesch–Nyhan syndrome Stories

2013-10-10 10:31:52

From Lesch-Nyhan syndrome to Alzheimer's, Parkinson's and Huntington's diseases A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer's, Parkinson's and Huntington's diseases....

2012-05-01 13:56:11

Teens with high levels of uric acid appear to be at increased risk for high blood pressure, according to results of research from scientists at Johns Hopkins Children´s Center. Although the findings do not establish a cause-and-effect link between uric acid and high blood pressure, they point to uric acid as one potential mechanism, or at least a biomarker, of disease, the researchers report in the April issue of the journal Hypertension. Analyzing more than 6,000 medical records...

2011-08-16 23:25:47

As an alternative to a conventional treatment for gout that some patients may not respond to, patients with severe, chronic gout who received the medication pegloticase for 6 months had greater improvement in measures of uric acid levels as well as physical function and quality of life, according to a study in the August 17 issue of JAMA. Long-term urate (a salt derived from uric acid) lowering therapy in gout aims to maintain concentrations of uric acid (UA) below a certain level. However,...

2011-08-16 23:21:17

Injections of pegloticase, a modified porcine enzyme, can produce significant and sustained clinical improvements in 2 out of 5 patients with chronic gout that is resistant to conventional therapies, researchers report in the August 17, 2011, issue of JAMA. In two controlled clinical trials, pegloticase rapidly lowered high levels of uric acid, the biochemical abnormality in gout, and kept it in the normal range for six months or more in 42 percent of patients receiving the drug every two...

2011-07-28 12:49:08

In humans, inherited mutations in a gene called HPRT1 lead to very specific self-destructive behavior. Boys with Lesch-Nyhan disease experience uncontrollable urges to bite their fingers, slam their arms into doorways and otherwise harm themselves. Puzzlingly, mice with mutations in the same gene don't behave differently than normal mice. Researchers at Emory University School of Medicine have identified a gene related to HPRT1, present in humans but not in mice that helps explain this...

2011-05-25 15:45:00

LONDON, May 25, 2011 /PRNewswire/ -- Ardea Biosciences, Inc. (Nasdaq: RDEA) announced today that additional positive clinical and preclinical results from its development program of lesinurad, the Company's lead product candidate for the treatment of hyperuricemia and gout, were presented at the Annual European Congress of Rheumatology hosted by the European League Against Rheumatism (EULAR) in London, UK. Results from Primary Dosing Period and Ongoing Extension of Phase 2b Combination...


Word of the Day
bellycheer
  • Good cheer; viands.
  • To revel; to feast.
The word 'bellycheer' may come from 'belle cheer', "good cheer".
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