Bayer Immuno 1 PSA Assay: an automated, ultrasensitive method to quantitate total PSA in serum.

The Bayer Immuno 1 PSA Assay measures total PSA in human serum and demonstrates excellent performance with an interassay CV < or = 3.4% and a biological detection limit of 0.03 microgram/L.

Mutation analysis of interleukin-5 in an asthmatic cohort.

Interleukin-5 (IL-5) is a potential candidate gene in the pathogenesis of asthma, as it is the main cytokine controlling eosinophil activity and eosinophils are pivotal in the development of airway inflammation. Mutation detection studies were performed on the IL-5 gene and the alpha-chain of its receptor in 30 asthmatic and 30 nonasthmatic subjects. Single-strand conformational polymorphism (SSCP) and heteroduplex analysis (HA) did not reveal any change from the reported normal sequence in all 4 exons of IL-5 as well as the promoter and 3'-untranslated regions of the gene.

Mutation screening of interferon-gamma (IFNgamma) as a candidate gene for asthma.

Background: Reduced levels of interferon gamma (IFNgamma) mRNA and protein have been detected in the bronchoalveolar lavage fluid of atopic asthmatics. IFNgamma is secreted by TH1 cells while IL-4 and IL-5 are secreted by TH2 cells and an imbalance in the TH1/TH2 response may be responsible for atopic asthma. The gene for IFNgamma is located on chromosome 12; a region of the genome which has been shown in linkage studies to be associated with asthma.

Evaluation of a project to enhance knowledge of hereditary diseases and management.

During 1992 and 1993, in a designated suburban area of Perth, Western Australia, information on hereditary disease was provided for health professionals and the general community. This information was in the form of posters, pamphlets, postal flyers and return letter cards, a static display, newspaper articles, advertisements and radio broadcasts, and professional seminars. The aim of this project was to evaluate the effectiveness of combined strategies to convey practical information about hereditary disease to the community and health professionals.

Minimally invasive coronary artery bypass surgery without cardiopulmonary bypass.

Objective: To report on the initial results of minimally invasive direct coronary artery bypass surgery (MIDCAB) without cardiopulmonary bypass. This is a potential alternative to conventional coronary artery bypass graft surgery, recently introduced to Australia.

Design: Prospective survey of patient data.

The effects of cardiopulmonary bypass on total and unbound plasma concentrations of propofol and midazolam.

Objective: To examine the effects of cardiopulmonary bypass (CPB) on total and unbound plasma concentrations of propofol and midazolam when administered by continuous infusion during cardiac surgery.

Design: Prospective clinical study.

Setting: University hospital.

A syndrome of leukonychia totalis and multiple sebaceous cysts.

We report on a family with leukonychia totalis, koilonychia and multiple sebaceous cysts segregating as an autosomal dominant disorder. This condition has only previously been described in two kindreds, and this report documents the natural course of the disorder and provides further evidence for pancreatitis being an associated syndromic feature.

Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy.

Maternal diabetes has an established aetiological link with developmental abnormalities, and the prevalence of major congenital malformations in the offspring of affected women is approximately 4-8%, compared to the general population risk of about 3%. Hallucal polydactyly, particularly with an unusual proximal placement of the extra digit, has been reported as a distinctive anomaly in diabetic embryopathy. We report on a child of a diabetic mother with this unusual form of hallucal polydactyly, together with other skeletal anomalies, confirming that this malformation is a useful clinical marker for the diagnosis of diabetic embryopathy.

Dentofacial features of a family with Crouzon syndrome. Case reports.

Crouzon syndrome is an autosomal dominant condition characterized by craniosynostosis with associated dentofacial anomalies. This paper describes the variable clinical features in affected individuals over two generations of a family with particular reference to the dentofacial deformities and discussion of management strategies.

The impact of antenatal screening for Down syndrome in Western Australia: 1980-1994.

Since the early 1970s, women in Western Australia have been screened for fetal Down syndrome risk on the basis of maternal age. Women 35 years of age or more at delivery, were offered fetal karyotyping with genetic diagnostic testing via amniocentesis or chorionic villus sampling. An increase in the prevalence of Down syndrome of 3.

Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly.

We report on a male child with "apple peel" atresia, associated with microcephaly, with subsequent hydrocephalus, short stature, moderate global developmental delay and ocular abnormalities. A similar phenotype was previously reported by Stromme et al. in 1993 in female siblings, and this description of another affected individual provides further evidence for this being a distinct syndromic entity.

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.

We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group. Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders. However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.

Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia.

Objective: To assess the provision of accurate pre-symptomatic genetic testing with DNA analysis and appropriate counselling for individuals and families known to be at high risk of developing familial adenomatous polyposis coli (FAP).

Patients And Methods: Thirty-one families with clinically and pathologically documented FAP were ascertained from the Western Australian Polyposis Registry. DNA was collected from over 200 individuals in these families to establish their genetic risk status for FAP, either by direct mutation analysis, or by linkage analysis.

Mutation analysis of Western Australian families affected by cystic fibrosis.

Objective: To document the results of mutation analysis on 160 individuals with cystic fibrosis and 31 obligate carriers of the cystic fibrosis gene in 191 Western Australian families to facilitate accurate genetic counselling.

Methods: We tested for 17 mutations of the cystic fibrosis gene by either a variation of the polymerase chain reaction amplification refractory mutation system (PCR-ARMS) or with a series of restriction enzyme cuts and dot blots using chemiluminescent probes.

Results: At least one of the two intragenic mutations causing cystic fibrosis was identified in 98% of affected individuals and both were detected in 68%.

Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.

Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.

Improving diagnosis of Huntington's disease by analysis of an intragenic trinucleotide repeat expansion.

Objective: To develop an accurate presymptomatic test for Huntington's disease.

Method: An improved polymerase chain reaction method was used to investigate the pattern of expansions of a CAG repeat sequence located in the 5' region of a gene recently found to produce the protein called Huntingtin. We documented the range of trinucleotide repeat expansions in the responsible gene in 82 affected individuals compared with 80 control subjects from a Western Australian population.

Hereditary gingival fibromatosis with a recessive mode of inheritance. Case reports.

Hereditary gingival fibromatosis is characterized by varying degrees of attached gingival hyperplasia and may in rare cases present as a feature of a generalized syndrome. It is usually inherited as an autosomal dominant condition though recessive forms are described. The dental and genetic features of an affected brother and sister with a probably unique autosomal recessive hereditary fibromatosis syndrome are presented.

The limitation of referral level fetal ultrasound examination in the detection of spina bifida in Western Australia, 1990-1991.

Objective: To ascertain babies born with spina bifida that was not detected by prenatal ultrasound examination performed after 16 weeks' gestational age at Western Australian referral centres, 1990-1991.

Design: A retrospective study of the antenatal ultrasound details of those infants born with spina bifida in Western Australia during the 24-month period, 1990 and 1991. Data were collected by interviewing parents, clinically assessing affected individuals and reviewing genetic, clinical and investigative records, and from the Birth Defects Registry of Western Australia.

Verification of carrier status for Becker muscular dystrophy from analysis of a blighted ovum.

The polymerase chain reaction (PCR) was used on material from a blighted ovum to confirm indirectly the carrier status of a woman with a family history of Becker muscular dystrophy. Conventional testing including creatine kinase levels, muscle biopsy, and EMG had been inconclusive, and on the basis of one elevated creatine kinase level, the woman had been designated a possible carrier. Ultrasound examination at 10 weeks of pregnancy indicated a blighted ovum, from which DNA was subsequently extracted and subjected to PCR testing for determination of sex and genotypic status with respect to the known familial deletion of the dystrophin gene.