Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17 months of age. Episodes of spontaneous laughter were also a feature. An EEG was initially normal. H...

Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.

In 1990 the existence of an X linked form of the alpha thalassaemia/mental retardation syndrome was postulated after the description of six isolated cases who were all cytogenetically male. The segregation pattern in the family described here supports X linked inheritance. The clinical details of our two patients are remarkably similar to the previously delineated phenotype. In addition, renal ...

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

The rare association of alpha thalassaemia and mental retardation has been described previously. Molecular studies of the alpha globin cluster in these cases have been heterogeneous, with some patients having large deletions while in others the alpha globin complex appears to be intact (non-deletional). The non-deletional cases form a distinct group whose features include severe mental retardat...

Screening for beta thalassaemia

Clinically significant and non significant prostate cancer an ongoing question.

One of the most important problems in urological practice is how to differentiate clinically significant and non significant prostate cancer (Pca) i.e. how to avoid over treatment of tumors with low malignant potential in one hand, and inappropriate less aggressive treatment of significant tumors, on the other hand. At the first place, one should estimate precise local clinical stage and the gr...