Browsing by Author "Fernandez, P."
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- ItemGenetic variations in androgen metabolism genes and associations with prostate cancer in South African men(Health and Medical Publishing Group (HMPG), 2010) Fernandez, P.; De Beer, P. D.; Van der Merwe, L. D.; Heyns, C. F.Background. In South Africa white men have the highest incidence of prostate cancer (PCa), coloured (mixed ancestry) men have an intermediate incidence, and low incidences are reported for black and Asian men. It has been suggested that ethnic differences in incidence and mortality of PCa are related to genetic variations in genes that regulate androgen metabolism. We investigated the role of genetic variants in the androgen metabolism genes and the probability of developing PCa in South African coloured and white men. Methods. Genotype and allele counts and frequencies of single nucleotide polymorphisms (SNPs) in CYP3A5, CYP3A4 and CYP3A43 were assessed in coloured men (160 case individuals, 146 control individuals) and white men (121 case individuals, 141 control individuals). Results. A genetic association indicating an increased probability of developing PCa was observed with the G allele of the SNP rs2740574 in CYP3A4 in coloured men, the A allele of rs776746 (CYP3A5) and the G allele of rs2740574 (CYP3A4) in white men, and the G allele of rs2740574 and the C allele of rs501275 (CYP3A43) in the combined ethnic groups analysis. In addition, we identified allele combinations (termed haplotypes) with significantly higher frequencies in the PCa case individuals than in the control individuals. Conclusions. The findings support the role of variants in genes that regulate androgen metabolism and the probability of developing PCa. The study paves the way to identify other genetic associations in South African men, and to establish genetic profiles that could be used to determine disease progression and prognosis.
- ItemPlasma sarcosine does not distinguish early and advanced stages of prostate cancer(Health and Medical Publishing Group (HMPG), 2012-08) Bohm, L.; Serafin, A. M.; Fernandez, P.; Van der Watt, G.; Bouic, P. J. D.; Harvey, J.Introduction. Diagnosis of prostate cancer by prostate specific antigen (PSA) is error-prone and cannot distinguish benign prostatic hyperplasia (BPH) from malignant disease, nor identify aggressive and indolent types. Methods. We determined serum sarcosine (N-methylglycine) in 328 cancer patients by gas chromatography (GC)/mass spectroscopy (MS) and searched for correlations with early (stage T1/T2) and advanced (stage T3/T4) disease. Results. Serum sarcosine of male control patients ranged from 1.7 μmol/l to 4.8 μmol/l. In prostate cancer patients, sarcosine ranged from 2.8 μmol/l to 20.1 μmol/l. Expressed as the sarcosine/alanine ratio, serum control values were 9.4±5.5x10 -3 (mean±SD) compared with 21.6±9.0; 28.5±16.6; 22.7±7.7 and 22.2±11.0 for patients diagnosed with T1, T2, T3 and T4 prostate tumours, respectively. The small differences between T1, T2, T3 and T4 patients were not statistically significant (p=0.51). However, the conventional PSA marker significantly correlated with T stage in these patients (r=0.63; p<0.009). Conclusions. The median sarcosine/alanine ratios among patients with early and advanced prostatic cancer ranged from 21.6±9.0 to 28.5±16.6 and were fairly constant, showing no statistically significant differences between T-stages. The results are consistent with published data in urine and serum which find differences between controls and patients with metastatic prostate cancer to be small and sarcosine to be uninformative regarding prostate cancer progression. By multi-comparison of PSA with T-stages in the same group of patients, we found significant correlations confirming the well-known merits and limitations of this marker.
- ItemProgressive familial heart block type II (PFHBII): a clinical profile from 1977 to 2003(Clinics Cardiv Publishing, 2004-06) Fernandez, P.; Corfield, V. A.; Brink, P. A.An evaluation of a 38-year-old Caucasian woman, who was referred to Tygerberg Hospital (Western Cape Province, RSA) with Wenckebach second-degree or possibly complete atrioventricular (AV) block that had progressed from first-degree AV block, identified a family history of the cardiac conduction system disorder progressive familial heart block type II (PFHBII). This prompted a retrospective clinical review of the subjects described in the original study, as well as additional family members who had not been examined in the original study. Progression of clinical features was observed, but more importantly, PFHBII was clinically redefined as an AV nodal disorder, which may progress to dilated cardiomyopathy (DCM).