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Children are increasingly recognised as having these disorders, particularly in the setting of Fanconi anaemia, ataxia telangiectasia and Bloom's syndrome.
Washington, Dec 25 (ANI): A new research has found a molecular link which ties two rare inherited disorders - Fanconi Anemia (FA) and Bloom's Syndrome (BS).
In Bloom's Syndrome, a mild B-cell function abnormality was found, while in the Wiskott-Aldrich's patients responses were variable.
These include nutritional insufficiency, renal disease, or a genetic condition for which GH therapy might be hazardous, such as Bloom's syndrome.
Often referred to as `segmental progeroid syndromes' [2], the most widely studied of these are Hutchinson-Gilford progeria, Werner's syndrome and Cockayne's syndrome, but the group also includes Bloom's syndrome, ataxia telangiectasia and Down's syndrome.
Bloom's syndrome is characterized by severe pre- and postnatal growth deficiency, a sun-sensitive erythematous face, well-demarcated hyper- or hypopigmented skin lesions and variable immunodeficiency [21].
have shown significantly higher levels of oxidatively modified proteins compared with age- and sex-matched controls [30] and in Bloom's syndrome superoxide dismutase activity is two to three times higher than expected [31].
Cancer plays an intimate role in the lives of Bloom's syndrome patients.
Now, researchers from the New York Blood Center report that Bloom's syndrome arises from mutations in a gene, called blm, that is essential to the process by which chromosomes copy themselves.
Two teams of scientists have independentlyfound that an enzyme deficiency may be responsible for the rare human disease called Bloom's syndrome.
The scientists searched for a similar enzyme in cells from Bloom's syndrome patients.