Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
OBJECTIVE: To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder with significant mortality in undiagnosed patients. DESIGN: The following were studied: (a) 13 clinically detected MCAD deficient subjects, most homozygous for the common A985G mutation, whose newborn screening sample was available; (b) 275 653 consecutive neonates undergoing routine newborn screening. Screened infants with blood octanoylcarnitine levels > or = 1 micromol/l were analysed for the A985G mutation, had analysis of plasma and repeat blood spot acylcarnitines and urinary organic acids, and had fibroblast fatty acid oxidation or acylcarnitine studies. RESULT: Twelve of the 13 patients later diagnosed clinically had newborn octanoylcarnitine levels > 2.3 micromol/l. Twenty three screened babies had initial octanoylcarnitine levels > or = 1 micromol/l. Eleven of 12 babies with persistent abnormalities had metabolite and/or enzyme studies indicating MCAD deficiency. Only four were homozygous for the A985G mutation, the remainder carrying one copy. CONCLUSIONS: Most patients with symptomatic MCAD deficiency could be detected by newborn screening. Infants actually detected had a lower frequency of A985G alleles than clinically diagnosed cases and may have a lower risk of becoming symptomatic. (+info)
Telephone reminders are a cost effective way to improve responses in postal health surveys.
STUDY OBJECTIVE: To assess the effectiveness of a telephone reminder in increasing responses to postal surveys and to calculate the differential costs per completed questionnaire. DESIGN: Randomised controlled trial. SETTING: Australian university and rehabilitation medicine practice. PARTICIPANTS: The trial was conducted in 1999 among the 143 non-respondents to a questionnaire about work related neck and upper body disorders. The questionnaire was sent to two Australian female samples: 200 office workers (Sample A) and 92 former rehabilitation medicine patients (Sample B). A reminder letter, another copy of the questionnaire and a final letter were sent at two week intervals. Half of the non-respondents within each sample were randomly selected to receive a telephone reminder just after the second mailout of the questionnaire. All direct costs were calculated. MAIN RESULTS: Responses were significantly higher among those who received the telephone reminder intervention (relative risk 2.54, 95% confidence intervals 1.43 to 4.52). Analysed by intention to phone, 47% of non-respondents in Sample A and 38% in Sample B returned a complete questionnaire after the intervention, compared with 21% and 10%, respectively, in the control groups. For the 112 women (combined samples) who returned completed questionnaires before randomisation, the average cost per respondent was AUD14. There was a higher total cost for the intervention groups (AUD851 versus AUD386 for controls), but the significantly higher number of additional completed responses (31 versus 12) resulted in a 15% lower marginal cost per completed questionnaire in those groups. CONCLUSION: Telephone reminders are cost effective in improving responses to postal surveys. (+info)
Predictors of refusal to participate: a longitudinal health survey of the elderly in Australia.
BACKGROUND: The loss of participants in longitudinal studies due to non-contact, refusal or death can introduce bias into the results of such studies. The study described here examines reasons for refusal over three waves of a survey of persons aged >or=70 years. METHODS: In a longitudinal study involving three waves, participants were compared to those who refused to participate but allowed an informant to be interviewed and to those who refused any participation. RESULTS: At Wave 1 both groups of Wave 2 non-participants had reported lower occupational status and fewer years of education, had achieved lower verbal IQ scores and cognitive performance scores and experienced some distress from the interview. Those with an informant interview only were in poorer physical health than those who participated and those who refused. Depression and anxiety symptoms were not associated with non-participation. Multivariate analyses found that verbal IQ and cognitive impairment predicted refusal. Results were very similar for refusers at both Waves 2 and 3. CONCLUSIONS: Longitudinal studies of the elderly may over estimate cognitive performance because of the greater refusal rate of those with poorer performance. However, there is no evidence of bias with respect to anxiety or depression. (+info)
Sexual orientation and mental health: results from a community survey of young and middle-aged adults.
BACKGROUND: Community surveys have reported a higher rate of mental health problems in combined groups of homosexual and bisexual participants, but have not separated these two groups. AIMS: To assess separately the mental health of homosexual and bisexual groups compared with heterosexuals. METHOD: A community survey of 4824 adults was carried out in Canberra, Australia. Measures covered anxiety, depression, suicidality, alcohol misuse, positive and negative affect and a range of risk factors for poorer mental health. RESULTS: The bisexual group was highest on measures of anxiety, depression and negative affect, with the homosexual group falling between the other two groups. Both the bisexual and homosexual groups were high on suicidality. Bisexuals also had more current adverse life events, greater childhood adversity, less positive support from family, more negative support from friends and a higher frequency of financial problems. Homosexuals reported greater childhood adversity and less positive support from family. CONCLUSIONS: The bisexual group had the worst mental health, although homosexual participants also tended to report more distress. (+info)
The Victorian emergency department collaboration.
OBJECTIVES: The aim of the project was to bring together 17 major emergency departments across Victoria, Australia, and the Australian Capital Territory to work together over an 8-month period to reduce both clinical and operational waits and delays, and to improve patient satisfaction. DESIGN: The collaborative was based on the Institute for Healthcare Improvement's Breakthrough Series, and utlilized their intellectual property and methodology adapted for the Australian setting. SETTING: The largest (by annual attendances) 17 emergency departments in the State of Victoria and one hospital in the Australian Capital Territory participated. STUDY PARTICIPANTS: Each hospital sent a team of three to five persons, which included the Emergency Department Medical Director and Nurse in Charge, and an Executive Sponsor to each learning session. INTERVENTIONS: The teams were required to attend four learning sessions, to participate during the action period in both clinical and operational improvement activities, and to report regularly in the form of data reports and conference calls. MAIN OUTCOME MEASURES: Each team selected at least one or two clinical topics for improvement and at least one operational project to undertake during the life of the collaborative. A patient satisfaction survey was commenced towards the end of the project. RESULTS: Forty-seven clinical projects were nominated during the life of the collaborative and 32 of these were completed, with 31 resulting in significant improvement or achieving target. Thirty-nine operational projects were nominated, 30 of which were completed, with 24 of these achieving improvement or target. Numerous additional achievements occurred, which evolved from the framework of supported collaboration. CONCLUSION: The spread of knowledge and innovation can be best facilitated rapidly by teams working together using a structured program in a supported environment. (+info)
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
BACKGROUND: The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare inborn errors of metabolism, but the efficacy and outcomes of screening remain unknown. We examined the effect of the screening of newborns by tandem mass spectrometry on the rates of diagnosis of 31 disorders. METHODS: We compared the rates of detection of 31 inborn errors affecting the metabolism of the urea cycle, amino acids, and organic acids and fatty-acid oxidation among 362,000 newborns screened by tandem mass spectrometry over a four-year period (April 1998 through March 2002) with the rates in six preceding four-year birth cohorts in New South Wales and the Australian Capital Territory, Australia, where screening, diagnostic, and clinical services were centralized. RESULTS: The overall prevalence of disorders during the periods when clinical diagnosis was used did not vary between 1982 and 1998. In the cohort screened with tandem mass spectrometry, the prevalence of inborn errors, excluding phenylketonuria, was 15.7 per 100,000 births (95 percent confidence interval, 11.9 to 20.4), as compared with adjusted rates of 8.6 to 9.5 per 100,000 births in the four preceding four-year cohorts. Of the 57 cases diagnosed after the introduction of newborn screening, 15 were diagnosed clinically; 7 of the 15 newborns had a normal result on screening. The rate of detection was increased specifically for medium-chain acyl-coenzyme A dehydrogenase deficiency (P<0.001) and other disorders of fatty-acid oxidation (P=0.007), as compared with the 16-year period before the implementation of neonatal screening for these disorders. CONCLUSIONS: More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically. It is not yet clear which patients with disorders diagnosed by such screening would have become symptomatic if screening had not been performed. (+info)
Pollinator attractiveness increases with distance from flowering orchids.
Orchids are extraordinary among plants because many species are pollinated through sexual duplicity by producing flowers that mimic female insects to lure unsuspecting males. Previous work showed that sexual deception by the orchid Chiloglottis trapeziformis can have a negative impact on its wasp pollinator Neozeleboria cryptoides. We report that female wasps may be capable of mitigating the cost of the orchids' deception. Although male wasps quickly habituated to areas planted with unrewarding flower decoys, we found that the effectiveness of the chemical cue used by the wingless females to attract males increases with increasing distance from an orchid patch. The apparent specificity of the males' site-based avoidance strategy means that females emerging in areas occupied by flowering orchids could, potentially, leave the orchid colony by walking to increase their attractiveness. (+info)
Birth order, atopy, and risk of non-Hodgkin lymphoma.
BACKGROUND: Immune deficiency is a strong risk factor for non-Hodgkin lymphoma (NHL), but whether or not other forms of immune dysregulation are associated with NHL risk is unknown. We investigated associations between atopy, which is associated with a Th2-dominant immune response, and NHL risk. Because late birth order and childhood crowding are inversely associated with atopy, we also investigated their associations with NHL risk. METHODS: We carried out a population-based case-control study among adults aged 20-74 years in New South Wales and the Australian Capital Territory, Australia. NHL patients without clinically apparent immune deficiency (N = 704) were selected from a cancer registry, and control subjects (N = 694) were randomly selected from state electoral rolls and frequency-matched to case patients by age, sex, and area of residence. Birth order, childhood crowding, and history of atopic conditions (hay fever, asthma, eczema, and specific allergies) were assessed by questionnaire and interview. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated from logistic regression models that included the matching variables as covariates. RESULTS: The odds ratios for developing NHL were 0.52 (95% CI = 0.32 to 0.84) for only children, 0.55 (95% CI = 0.40 to 0.75) for first-born children, 0.70 (95% CI = 0.51 to 0.96) for second-born children, and 0.81 (0.57 to 1.14) for third-born children (all compared with fourth- or later-born children) (P(trend)<.001). Indicators of crowding in later childhood, such as sharing a bed or bedroom, were not associated with NHL risk. A history of atopic conditions was associated with a reduced risk of NHL; this reduction was statistically significant for hay fever (OR = 0.65, 95% CI = 0.52 to 0.82) and food allergies (OR = 0.29, 95% CI = 0.20 to 0.42). CONCLUSIONS: Early birth order and its immunologic consequence, a Th2-dominated immune response, as reflected by a history of atopic disease, are associated with a reduced risk of NHL. (+info)