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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...

2012-11-13 13:33:12

Last year a clinical trial of L-DOPA -- a mainstay of Parkinson's disease therapy -- was launched for Angelman syndrome, a rare intellectual disorder that shares similar motor symptoms such as tremors and difficulty with balance. The clinical trial is based on a 10-year-old case report showing benefit with the drug, but few studies since have explored the neurological justification for using L-DOPA to treat parkinsonian features in Angelman syndrome. New research from the University of...


Word of the Day
out-herod
  • In the phrase to out-herod Herod, to be more violent than Herod (as represented in the old mystery plays); hence, to exceed in any excess of evil.
Herod refers to 'Herod the Great,' a Roman client king and 'a madman who murdered his own family and a great many rabbis.' According to the OED, the term is 'chiefly with allusion to Shakespeare's use' in Hamlet.
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