A discussion of cases in the 2001 RCPA-AQAP Chemical Pathology Case Report Comments Program.

Aim: We present a descriptive analysis of the 10 case reports distributed in the Royal College of Pathologists of Australasia (RCPA) and the Australasian Association of Clinical Biochemists (AACB) Chemical Pathology Patient Report Comments Program to assess the quality of interpretative commenting in clinical biochemistry in 2001.

Method: Participants were asked to comment on a given set of biochemistry results attached with brief clinical details. All responses received were translated into key phrases and graphically presented on a histogram.

Apolipoprotein E gene polymorphisms are associated with carotid plaque formation but not with intima-media wall thickening: results from the Perth Carotid Ultrasound Disease Assessment Study (CUDAS).

Background And Purpose: Several studies have investigated the role of apolipoprotein E (apoE) polymorphisms on carotid intima-media thickness (IMT) with conflicting results. The objective of this study was to use a large, community-based population to investigate associations between apoE gene polymorphisms and cardiovascular disease-associated phenotypes: IMT, carotid artery plaque, and low- (LDL-C) and high-density lipoprotein cholesterol (HDL-C).

Methods: ApoE genotypes were determined in 1109 randomly selected community subjects with an equal man-to-woman ratio and equal numbers in each age decile who were 27 to 77 years of age and had bilateral carotid B-mode ultrasound and cardiovascular risk factor measurements.

Validation of the FibroTest biochemical markers score in assessing liver fibrosis in hepatitis C patients.

Background: Determining the stage of fibrosis by liver biopsy is important in managing patients with hepatitis C virus infection. We investigated the predictive value of the proprietary FibroTest score to accurately identify significant fibrosis in Australian hepatitis C patients.

Methods: Serum obtained from 125 confirmed hepatitis C patients before antiviral therapy was analyzed for haptoglobin, alpha(2)-macroglobulin, apolipoprotein A1, bilirubin, and gamma-glutamyltransferase activity, and the FibroTest score was computed.

Variegate porphyria in Western Australian Aboriginal patients.

Background: Survivors of shipwrecks along the Western Australian coast may have introduced a mutation for variegate porphyria into the Aboriginal population prior to first settlement.

Aims: To assess the mutations responsible for variegate porphyria in Western Australian Aboriginal patients, particularly the R59W mutation, which is the most common cause of variegate porphyria in South Africa.

Methods: New cases of porphyria were diagnosed by biochemical separation of porphyrin subtypes.

Gene frequencies of human platelet antigens 1-5 in indigenous Australians in Western Australia.

The frequencies of human platelet antigen (HPA) systems vary between different racial groups; however, HPA frequency data for some racial groups are still incomplete. We report the distribution of HPA 1-5 systems in Australian Aborigines from a remote community in the north-west of Australia and compare our findings with HPA observed in a Western Australian blood donor population. Using a polymerase chain reaction (PCR) with sequence-specific primers, 185 indigenous Australians and 1000 Western Australian blood donors were genotyped for each of the HPA 1-5 systems.

The effect of preoperative aspirin-free interval on red blood cell transfusion requirements in cardiac surgical patients.

Objective: To compare red blood cell transfusion in first-time coronary artery surgery patients who stopped taking aspirin < or = 2 days, 3 to 7 days, or >7 days preoperatively.

Design: Observational study.

Setting: University-affiliated teaching hospital.

Diagnosis of breast microcalcifications: a comparison of stereotactic FNA and core imprint cytology as adjuncts to core biopsy.

Stereotactic core biopsy (CB) using 14-gauge needles was adopted as the standard method of diagnosis of screen-detected breast microcalcifications (MC) at Sir Charles Gairdner Hospital in 1996. Fine needle aspiration (SFNA) was included as an adjunct, to optimise sensitivity and to provide immediate reporting. Recently, core imprint cytology (CI) has been shown to have a high sensitivity in diagnosing malignancy.

Serum levels of micronutrients, antioxidants and total antioxidant status predict risk of breast cancer in a case control study.

We performed a case control study to assess the association between serum micronutrient and antioxidant levels and the risk of breast cancer. Newly diagnosed breast cancer cases were recruited before any treatment and matched with controls randomly selected from the electoral roll. Blood samples were collected from 153 breast cancer cases and 151 controls.

Extraskeletal myxoid chondrosarcoma: a light microscopic, immunohistochemical, ultrastructural and immuno-ultrastructural study indicating neuroendocrine differentiation.

Aims: Extraskeletal myxoid chondrosarcoma is a rare low-grade soft-tissue sarcoma with locally aggressive and metastasizing potential. Extraskeletal myxoid chondrosarcoma has distinctive clinical, light microscopic, immunophenotypic, cytogenetic and ultrastructural features. Evidence that extraskeletal myxoid chondrosarcoma often shows neuroendocrine features was first provided by Chhieng et al.

Head injury-related road crash mortality in rural Western Australia.

Background: The aim of the present paper was to assess the incidence of, and identify factors associated with road crash (RC)-related fatal head injuries in rural and metropolitan Western Australia.

Methods: Examination of demographics, driving behaviour and RC characteristics for RC fatalities involving a head injury (Abbreviated Injury Scale (AIS) > or = 2) between 1 January 1998 and 31 December 1999 was carried out using the State Coronial Database.

Results: There were 328 deaths.

Recovery of DNA for forensic analysis from lip cosmetics.

To obtain a reference DNA profile from a missing person, we analyzed a variety of personal effects, including two lip cosmetics, both of which gave full DNA profiles. Further investigations were undertaken to explore this previously unreported source of DNA. We have tested a range of brands and types of lip cosmetics.

Polymorphisms in the angiotensinogen gene are associated with carotid intimal-medial thickening in females from a community-based population.

Background: Polymorphisms within genes of the renin-angiotensin system have been associated with an increased risk of cardiovascular disease. We investigated the association of polymorphisms in the angiotensinogen (AGT) and angiotensin II receptor type 1 (AGTR1) genes with increased intima-media thickness (IMT) and the presence of plaques in carotid arteries.

Methods: Subjects (1111) from the Perth Carotid Ultrasound Disease Assessment Study (CUDAS) were genotyped for three polymorphisms: two in the promoter of the AGT gene, G-6A and A-20C; and one in the AGTR1 gene, A1166C.

A sensitive assay for the measurement of serum chondroitin sulfate 3B3(-) epitope levels in human rheumatic diseases.

Objective: To develop a sensitive assay to quantitate serum 3B3(-) levels in patients with rheumatoid arthritis (RA) and osteoarthritis (OA) as well as levels in control sera.

Methods: An enzyme-linked immunosorbent assay (ELISA) was developed using the monoclonal antibody (MAb) 3B3 to detect a chondroitin sulfate (CS) epitope in the sera and synovial fluid (SF) of RA and OA patients. Keratan sulfate levels were measured in the same biological fluids using the 5D4 monoclonal antibody.

The effects of recent aspirin ingestion on platelet function in cardiac surgical patients.

Objective: To examine the effects of the preoperative aspirin-free interval on platelet function in cardiac surgical patients.

Design: Prospective clinical investigation.

Setting: University-affiliated teaching hospital.

A Pro12Ala polymorphism in the human peroxisome proliferator-activated receptor-gamma 2 is associated with combined hyperlipidaemia in obesity.

Objective: Peroxisome proliferator-activated receptor-gamma 2 (PPAR gamma 2) is an important regulator of adipose tissue metabolism and insulin sensitivity. The aim of this investigation was to determine whether a PPAR gamma 2 Pro12Ala polymorphism was associated with cardiovascular risk factors (obesity, blood pressure, diabetes and blood lipids) in Western Australian Caucasians (n=663).

Design: Subjects were selected from two population studies (the Carotid Ultrasound Disease Assessment Study (CUDAS) and Busselton Population Health Survey) on the basis of body mass index (BMI).

Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population.

Background: Heterozygotes for the C282Y mutation of the HFE gene may have altered hematology indices and higher iron stores than wild-type subjects.

Methods: We performed a cross-sectional analysis of 1488 females and 1522 males 20-79 years of age drawn from the Busselton (Australia) population study to assess the effects of HFE genotype, age, gender, and lifestyle on serum iron and hematology indices.

Results: Male C282Y heterozygotes had increased transferrin saturation compared with the wild-type genotype.

Molecular epidemiology of Scedosporium apiospermum infection determined by PCR amplification of ribosomal intergenic spacer sequences in patients with chronic lung disease.

Respiratory tract colonization with Scedosporium apiospermum in patients with chronic suppurative lung disease is a significant concern for lung transplantation candidates, since Scedosporium infections occurring posttransplantation are usually untreatable. Up to 10% of patients with cystic fibrosis attending our respiratory medicine unit have had Scedosporium organisms isolated from sputum samples. We therefore developed a molecular typing method to examine these isolates.

A high-throughput MS-PCR method on MADGE gels for ANG II type-1 receptor A1166C polymorphism.

We have developed a highly accurate, low-cost, single-step, mutagenically separated polymerase chain reaction (MS-PCR) method for the determination of angiotensin II type-1 receptor (AT(1)) A1166C gene polymorphism. The genotypes are determined using the microtiter array diagonal gel electrophoresis (MADGE) system. We have compared the MS-PCR method with allele-specific oligonucleotide hybridization and Dde I digestion techniques for determining the AT(1) A1166C genotype.

Acute melioidosis outbreak in Western Australia.

A cluster of acute melioidosis cases occurred in a remote, coastal community in tropical Western Australia. Molecular typing of Burkholderia pseudomallei isolates from culture-confirmed cases and suspected environmental sources by pulsed-field gel electrophoresis (PFGE) of XbaI chromosomal DNA digests showed that a single PFGE type was responsible for five cases of acute infection in a community of around 300 during a 5 week period. This temporal and geographical clustering of acute melioidosis cases provided a unique opportunity to investigate the environmental factors contributing to this disease.

Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women.

Background: Women who inherit heterozygosity for the C282Y mutation of the HFE gene may have increased serum iron indices and hemoglobin and are less likely to develop iron deficiency compared with women with the wild-type genotype.

Methods: We performed a cross-sectional analysis of 497 women 20-44 years of age and 830 women >51 years of age drawn from the Busselton (Australia) population study to assess the effects of the HFE genotype on serum iron and hematology indices.

Results: Heterozygosity for the C282Y mutation occurred in 13.

Serum ferritin and C282Y mutation of the hemochromatosis gene as predictors of asymptomatic carotid atherosclerosis in a community population.

Background And Purpose: Serum ferritin and heterozygosity for the C282Y mutation of the hemochromatosis gene have both been associated with an increased risk of cardiovascular events. The purpose of the study was to test whether either is a risk predictor for asymptomatic carotid atherosclerosis.

Methods: We assessed carotid intima-media wall thickness (IMT) and focal plaque formation by high-resolution B-mode ultrasound, conventional risk factors, serum ferritin levels, and the C282Y mutation of the hemochromatosis gene in a randomly selected community population of 1098 subjects (545 women and 553 men) aged 27 to 77 years.