ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01781.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01782.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Background:It is now known that a proportion of cases of hereditary non‐polyposis colorectal cancer (HNPCC) is caused by mutations in the human homologue of the yeast DNA mismatch repair geneMSH2.A proline to leucine change due to a C to T transition in codon 622of hMSH2has been identified in a large HNPCC family of over 240 individuals.Aim:To develop an assay to detect the family‐specific mutation and apply the findings to genetic screening.Methods:The C to T change in codon 622 creates a new Mae I site (CTAG) allowing a simple, non‐radioactive assay to be developed in order to detect this mutation. The assay was applied to affected members of the family and their first degree relatives (siblings and offspring) between the ages of 17 and 77 years, a total of 75 subjects within two generations (IV and V).Results:13/13 (100%) subjects with cancer were mutation positive, 7/7 (100%) elderly subjects from generation IV and with no evidence of cancer were mutation negative, 23/57 (40%) subjects from generation V were mutation positive and 0/50 (100%) unrelated subjects were mutation negative. Following the demonstration of perfect segregation of the disease with the mutation, family members were invited to receive the results of the test. Sixty‐three (84%) responded within six weeks of receiving the invitation. Genetic screening and counselling members of HNPCC families was perceived as beneficial overall, allowing non‐carriers of the mutant gene (as well as their descendants) to be removed from a programme of colonoscopic surveillance. (Aust NZ J Med 1994; 24:

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01783.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Background:Sheepskin bedding might increase house dust mite exposure and so explain some of the increasing prevalence or severity of childhood asthma.Methods:Relationships between use of different types of bedding, and diagnoses of asthma, symptoms of wheezing, skin prick test evidence of house dust mite sensitivity, and airway responsiveness to methacholine, were examined retrospectively in a birth cohort of children followed longitudinally to age 15 years.Results:In the whole cohort, no associations were identified to suggest a causal relationship between use of any type of bedding and development of features of asthma. Although not an a priori hypothesis, we noted that among children with a family history of atopic disease, those who were house dust mite sensitive were more likely to have used an innerspring mattress (29.6% vs 10.2% who had not used an innerspring mattress, ρ= 0.005).Conclusion:In this subgroup, increased airway responsiveness and mite sensitivity were significantly associated with use of innerspring mattresses, although whether this is a causal or secondary association is not certain. Use of a sheepskin in the bed in early childhood was not an additional risk factor for the development of asthma. (Aust NZ J Med 1994; 24: 687–69

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01784.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Background:At fibreoptic bronchoscopy the potential exists for contamination of bronchoscopes and microbiological specimens. Patients may also be cross infected with acid fast bacilli (AFB). During a five month period, 12 bronchial wash specimens of 65 patients undergoing bronchoscopy, one bronchoscope and an autocleaner, were contaminated with the AFB,Mycobacterium chelonae(MCH).Aim:To eradicate AFB contamination of bronchoscopy specimens by identifying sources of contamination and modifying disinfection procedures.Methods:To identify the source of contamination, samples for AFB culture were taken from three bronchoscopes, the autocleaner and water taps. To eradicate MCH contamination, the bronchoscopes were soaked in 2% glutaraldehyde overnight and flushed with 70% alcohol. Disinfection procedures were altered by using sterile water and containers in cleaning. Autocleaner use was discontinued.Results:The autocleaner, one bronchoscope and 12 bronchial wash specimens were contaminated with MCH. All contaminants had similar electrophoretic banding on probing of their DNA fragments, suggesting a common clone of origin. After the alterations in disinfection procedures and despite prolonged soaking in 2% glutaraldehyde, three further contaminated wash specimens were isolated from one bronchoscope. Only after ethylene oxide sterilisation of this bronchoscope was the contamination overcome. Since then no further MCH contamination has occurred. No patient required treatment and there has been no clinical evidence of mycobacterial disease.Conclusion:To avoid contamination of bronchoscopy specimens with MCH, use of autocleaners should be discouraged and sterile water and containers used in cleaning procedures. If MCH contamination occurs in this setting, the bronchoscope and dismantled valve mechanism should undergo ethylene oxide sterilisation. (Aust NZ J Med 1994; 24: 693–695

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01785.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Background:Despite the known protective effects upon renal function of lowering blood pressure in primary chronic renal disease, diabetes and malignant hypertension, the number of patients entering dialysis and transplantation programmes with renal failure due to hypertension or vascular disease remains high.Aims:To analyse the trends in incidence of arteriopathic end‐stage renal failure.Methods:Calculation of mean annual age‐ and sex‐specific rates (by decade) and truncated age‐standardised rates for entry into Australian end‐stage renal failure programmes in the period 1972–1991. Statistical analysis by chi‐squared test, assuming a Poisson distribution of cases.Results:End‐stage renal failure attributed primarily to hypertension or vascular disease fell to less than half its former level over the period of observation in persons aged 15–54 years. This change has occurred only in the diagnostic category ‘malignant hypertension’. Trends in persons aged 55 years and over are more difficult to analyse because of changing criteria for entry into renal failure programmes, but there has been no indication of any fall in incidence.Conclusions:The aetiology and pathology of arteriopathic renal failure is diverse, with different patterns in young and old adults. The formerly common pathology in young adults is largely preventable by modern antihypertensive therapy, while arteriopathic renal disease in older persons is not. (Aust NZ J M

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01786.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Background:Primary lymphoma of bone (PLB) is a rare form of extranodal lymphoma. Between 1975 and 1992 39 patients with lymphoma presenting in bone were seen at the Royal North Shore Hospital (RNSH), Sydney. Of these, 12 (31%) had truly localised disease (Stage IE).Aims:Patients were studied retrospectively to determine the prognostic significance of bony involvement per se versus involvement of a single bony site, and to determine the impact of treatment modality on outcome.Methods:The 39 patients were divided into three groups according to extent of disease; single osseous site (Stage IE), multifocal bone, and bone plus visceral and/or nodal disease. Kaplan‐Meier survival curves were constructed, and five year actuarial survival stated. Cox regression analysis was used to determine hazard ratios. Overall survival was used as the end‐point.Results:A trend for better survival was noted with Stage IE disease. Multifocal and disseminated disease appeared to have a poorer outcome when assessed by hazard ratio, with a value of 3 (95% CI 0.87–10.4; ρ= 0.08), compared to unifocal disease. Radiotherapy alone was as effective as combined modality treatment although patient numbers were too small for statistical confirmation.Conclusions:The stage of lymphoma, rather than bony involvement per se, seems to have more prognostic importance. Radiotherapy alone offered equivalent results to combined modality treatment in this series. (Aust NZ J Med 1994; 24: 70

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01787.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

摘要:

Background:Hypothermia occurs within domestic and non‐residential settings. Most epidemiological data originate from the northern hemisphere, with little data being generally available concerning cases from New Zealand and Australia.Aims:The National Health Statistics Centre (New Zealand) records hospital discharges and deaths. This study isolated hypothermia cases, to quantify its incidence and identify risk groups.Methods:The morbidity and mortality files for the years 1979‐86 (cases = 3,808,717) and 1977‐86 (cases = 259,325; respectively) were searched by three investigators.Results:Hypothermia hospitalisations were identified (6.9 per 100,000 per year). There were 176 deaths from hypothermia, representing 0.07% of the 259,325 deaths from all causes for the same period (0.537 per 100,000 people per year); of these fatalities, 72.2% were classified as domestic, and 27.8% as non‐residential; of the domestic fatalities, 86.6% were 65 + years and 35.5% of these were male. Within the non‐residential category, 75.5% were aged 13–65, of which 94.6% were male. The hospitalisation incidence was 12.7 times the fatality incidence, with the majority of hospitalisations being of domestic origin (88.4% of total), and occurring mostly within the lower and upper age extremes. Neonatal domestic hypothermia accounted for 72.6% of all domestic hospitalisations, and the elderly constituted 72.0% of the remaining cases. The proportion of New Zealand fatalities caused by hypothermia was 0.067%; lower than reported in the United Kingdom.Conclusions:The two main non‐neonatal groups contributing to cases of hypothermia were males aged 13–65 years, and the elderly. In the aged, the proportion of hypothermia‐related deaths was no different from that associated with other disorders, however, the case‐fatality ratio was three times greater, highlighting the need for improving prevention and management strategies. (Aust NZ J Med

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01788.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01789.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1994.tb01790.x

出版商:Blackwell Publishing Ltd    

年代:1994

数据来源: WILEY