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Latest Genodermatoses Stories

2013-02-05 10:32:23

Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome, finds a study published in BioMed Central's open access journal Genome Medicine. This molecular definition distinguishes these children from those with Bohring-Opitz, and other similar syndromes, and highlights a technique able to help define rare diseases. When Dr Ropers from the Max-Planck Institute for Molecular Genetics in Berlin found a child with non-specific symptoms, including small size...

2013-01-11 13:23:29

Study shows drug can shrink tumors and save kidneys Thousands of individuals have had kidneys removed unnecessarily because doctors misdiagnosed their disease. A new, international study published in The Lancet indicates that approximately one of every five individuals with kidney tumors common in patients with tuberous sclerosis complex (TSC), a genetic disorder, has had a kidney removed. Moreover, 40 percent had some kind of surgical procedure performed. Proper diagnosis could have...

2012-12-24 15:13:10

The causes of learning problems associated with an inherited brain tumor disorder are much more complex than scientists had anticipated, researchers at Washington University School of Medicine in St. Louis report. The disorder, neurofibromatosis 1 (NF1), is among the most common inherited pediatric brain cancer syndromes. Children born with NF1 can develop low-grade brain tumors, but their most common problems are learning and attention difficulties. “While one of our top...

2012-11-27 15:33:43

Johns Hopkins researchers call for early and frequent screening of women with neurofibromatosis-1 New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from early breast cancer screening with mammograms beginning at age 40, and manual breast exams as early as adolescence. In a small study of 126 women with NF1 at the Johns...

2012-11-14 12:59:15

Affected pathway also involved in autism, Alzheimer's, Parkinson's A drug originally developed to prevent the rejection of transplanted organs has now been shown to dramatically reduce a particular kind of brain tumor in patients with tuberous sclerosis complex (TSC) -- a genetic disease that causes tumors to grow on vital organs. The study, published online in The Lancet, is the latest to show the effectiveness of everolimus in slowing the cell growth that is overactive in patients...


Word of the Day
cacodemon
  • An evil spirit; a devil.
  • A nightmare.
  • In astrology, the twelfth house of a scheme or figure of the heavens: so called from its signifying dreadful things, such as secret enemies, great losses, imprisonment, etc.
'Cacodemon' comes from a Greek term meaning 'evil genius.'
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