Individually, lysosomal storage disorders are rare genetic diseases. However, as a group, they are relatively common and represent an important health problem in Australia.

Measurements of cTnI reveal a higher incidence of myocardial injury than predicted by CK-MB in aneurysmal SAH, and elevations of cTnI are associated with a higher incidence of myocardial dysfunction. Thus, cTnI is a highly sensitive and specific indicator of myocardial dysfunction in aneurysmal SAH.

No abstract

Glycolate causes large artifactual elevations in plasma L-lactate measurements by two analyzers in common use, with potential for misdiagnosis of lactic acidosis in ethylene glycol poisoning. A possible cause of the interference is incomplete specificity of the analytical reagent L-lactate oxidase, allowing cross-reaction with glycolate.

The balanced solution is this: instead of reporting the post-haemolysis corrected potassium result a qualitative comment is given, indicating the likely range of the potassium concentration. If the potassium result is in a critically low or high range, it is communicated promptly to the requesting clinician.

No abstract

Objective To relate findings from a novel approach, ejaculate cytology, to the established reference, histopathology from transrectal ultrasonography (TRUS)‐guided prostatic biopsies, in patients at risk of having prostatic cancer on the basis of an abnormal digital rectal examination (DRE) and/or an elevated serum prostate specific antigen (PSA). Patients subjects and methods Thirty‐seven men suspected of having prostatic carcinoma provided ejaculate specimens which were collected in Hanks solution. The specimens were centrifuged to form a pellet from which smears were made for cytological examination. Immunohistochemical staining for PSA and prostatic acid phosphatase (PAP) were performed on embedded blocks of these cells. TRUS‐guided sextant biopsies were performed for histological specimens using standard clinical procedures. A control group of 32 men <30 years of age, with no family history of prostatic cancer, also produced specimens of ejaculate which were processed similarly. Results Frankly malignant and atypical prostatic cells were identified in ejaculate specimens from 14 of the 37 patients. Of 12 patients with TRUS biopsies positive for malignancy, nine (75%) had abnormal cells in their ejaculates. Furthermore, five of 25 patients with negative biopsies for adenocarcinoma also had abnormal ejaculate cytology; two of these five patients had high‐grade prostatic intra‐epithelial neoplasia (PIN). In the control group, no PSA‐ or PAP‐positive prostatic epithelial cells were identified. Normal prostatic cells were not seen in any of the ejaculate specimens examined. Conclusions These results indicate that ejaculate cytology, which is a non‐invasive and easily repeated investigation, may prove to be a useful approach in the early detection of cancer of the prostate. However, its value in this role, together with the clinical significance of cytological findings, needs to be established, especially in relation to PSA and TRUS biopsy.

Progressive ataxia, proprioceptive deficits, dysphagia and wasting occurred in a female and a male from the same litter of Springer Spaniels after the age of 12 and 19 months. At autopsy both showed marked enlargement of cranial parts of vagus and cervical nerves and dorsal root ganglia, and there was widespread vacuolation of cells of central nervous system (CNS), some peripheral nerves and of epithelial and mesenchymal cells of many organs; these vacuoles were largely empty in histological material, and were assumed to be of lysosomal origin after electron-microscopic study. Cultured fibroblasts and peripheral blood leucocytes from the male were shown to be severely deficient in alpha-L-fucosidase, and the mother of these cases was found to have less than half the expected activity of this enzyme in blood leucocytes. This condition is presented as a potential animal model of human alpha-L-fucosidase.