ABSTRACT
This paper describes the case of a 48 year old man who presented with acute hyperlipidaemia following pulmonary embolism. Subsequent investigation revealed that the hyperlipidaemia was secondary to nephrotic syndrome of glomerulonephritis. The case illustrates the importance of investigating acute hyperlipidaemia for its underlying causes.
Subject(s)
Glomerulonephritis, Membranous/complications , Hyperlipidemias/etiology , Pulmonary Embolism/etiology , Acute Disease , Diagnosis, Differential , Humans , Male , Middle Aged , Nephrotic Syndrome/complicationsABSTRACT
Previous studies have shown that patients who present at first or a later presentation with a cluster of new basal cell carcinoma (BCC) comprise a subgroup, termed multiple presentation phenotype (MPP), that is at increased risk of developing further lesions. In this study, we examined the hypothesis that patients who develop multiple clusters are a high-risk subgroup. We found, in a total group of 926 BCC patients, 32 patients with 2-5 BCC clusters (multiple cluster MPP) and 113 cases with only one cluster (single cluster MPP). Multiple cluster MPP cases had mean of 11.3 BCC compared with 3.7 in single cluster MPP cases during similar follow-up. Ultraviolet (UV) exposure in these groups was similar. We determined whether the multiple cluster MPP was associated with characteristics associated with sensitivity to UV or glutathione S-transferase (GST) GSTT1, GSTM1, cytochrome P450 (CYP) CYP2D6, tumour necrosis factor (TNF)-alpha and vitamin D receptor (VDR) genotypes previously associated with BCC presentational phenotypes. While the frequencies of blue eyes and male gender were greater in multiple cluster than single cluster cases, these differences were not significant. In multiple cluster cases, mean age at first presentation with single tumours occurred earlier and the frequencies of CYP2D6 extensive metabolizer (EM) (94.4%) and GSTT1 null (41.2%) were significantly greater (P = 0.028 and P = 0.004) than in single cluster cases (67.1% and 14.3%, respectively). The odds ratios for the individual associations of CYP2D6 EM and GSTT1 null with the multiple cluster MPP were relatively larger; 15.5 and 7.39, respectively. TNF-alpha and VDR genotypes were not associated with multiple cluster MPP. We propose that the MPP is not the consequence of excessive UV exposure but rather reflects the presence of a distinct BCC subgroup which is defined by combinations of risk genes.
Subject(s)
Alleles , Carcinoma, Basal Cell/genetics , Skin Neoplasms/genetics , Carcinoma, Basal Cell/enzymology , Cytochrome P-450 CYP2D6/genetics , Genetic Variation , Genotype , Glutathione Transferase/genetics , Humans , Male , Middle Aged , Phenotype , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , Receptors, Calcitriol/genetics , Risk Factors , Skin Neoplasms/enzymology , Tumor Necrosis Factor-alpha/geneticsABSTRACT
A major reason for the dramatic increase in laboratory costs is the increased number of laboratory investigations, many of which are perceived to be a waste of time and money. In consequence, several strategies, reviewed below, for curtailing clinicians' laboratory usage have been proposed but none has been universally successful. It is clear, however, that a combination of several strategies is likely to be more successful than any single approach. There may be several reasons why no single strategy has been widely adopted in routine practice. We suggest that modern computers have the ability to overcome these obstacles. We propose, therefore, that expert systems at the clinical-laboratory interface utilising a multifactorial approach within a framework of commitment from clinicians and laboratorians offer the best prospect for reducing inappropriate laboratory usage.
