Biomedical subjects
A Dobbie
Publications and source records attributed to A Dobbie.
A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.
A 15-year-old-boy and his mother, both carrying a cryptic deletion within 12p13.33, are described. The proband has a mild phenotype with moderate mental retardation and severe behavioural problems. The mother had some learning difficulties at school. Conventional GTL-banded high-resolution chromosome analysis showed normal karyotypes. Subsequent analysis by fluorescence in situ hybridization using a set of probes specific for the subtelomeric regions of all chromosomes, plus a series of probes at 12p13.33 extending from the 12p telomere, showed that both mother and son carry a 1.65 Mb terminal deletion in this region. There are 10 predicted genes within the deleted region. The unanticipated familial nature of the deletion emphasizes the value of family studies in all cases with subtelomeric abnormalities. It also demonstrates the difficulty in making a clinical diagnosis of individuals with this deletion. To the best of the present authors' knowledge, the proband and his mother are the first patients described with a submicroscopic deletion at 12p13.33.
Staphylococcal septicaemia complicating intracavernosal autoinjection therapy for impotence in a man with diabetes.
Intracavernosal injection of vasoactive drugs is a safe, effective, and commonly used treatment for impotence in diabetic men. In prospective studies infection has rarely occurred. We report a case of life-threatening Staphylococcal septicaemia complicating this treatment in a 61-year-old man with Type 2 diabetes, probably due to a combination of an unsterile technique and drug-induced priapism. Infection is a potential risk in diabetic men using intracavernosal injection therapy and those offered it should be informed of the importance of a scrupulous sterile technique and the need to seek urgent medical help for decompression if an erection persists for more than 4-6 h.