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Biomedical subjects

B Rotoli

Publications and source records attributed to B Rotoli.

At least 55 records · Page 3Linked to original sources
PubMedDate not supplied

Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis.

BACKGROUND: Structural hemoglobinopathies usually are inherited as autosomic dominant traits; de novo mutations are uncommon. Analytical and preparative procedures for the characterization of an abnormal hemoglobin are complex and time-consuming. Mass spectrometer analysis allows a rapid identification of the amino acid substitution. METHODS AND RESULTS: A cyanotic 7-year-old girl was found to have 16% methemoglobin. Laboratory data showed the presence of an abnormal hemoglobin, which was isolated by collecting the abnormal peak from DEAE and globin chains from CM52. The amino acid substitution was rapidly identified by FAB mass spectroscopic analysis, leading to the recognition of HbM Hyde Park. These data were confirmed by molecular analysis (Southern blot and DNA sequencing). Neither the parents nor a sister showed any abnormality; non-paternity was excluded by blood group serology and HLA typing. CONCLUSIONS: This is a case of HbM Hyde-Park arising as a de novo mutation. FAB mass spectroscopic analysis is a rapid and useful analytical method for identifying aminoacid substitution.

Blotting, Southern↗
PubMedDate not supplied

Treatment of Waldenstrom's macroglobulinemia with interferon.

Three patients suffering from Waldenström's disease were treated with recombinant human alpha 2b interferon (INTRON-A, Shering-Essex) as single agent (3 megaU every day or three times a week). After four months of treatment, a striking reduction of serum IgM with normalization of the electrophoretic profile was seen in one patient (who had been splenectomized and intensely pretreated with chemotherapy); IgM was about halved in the remaining two patients. With the lower dosage, tolerance was excellent in all cases. Interferon treatment has to be considered in the management of macroglobulinemia.

Adult↗