37 resultados para Allele frequency data
Resumo:
The performance of three analytical methods for multiple-frequency bioelectrical impedance analysis (MFBIA) data was assessed. The methods were the established method of Cole and Cole, the newly proposed method of Siconolfi and co-workers and a modification of this procedure. Method performance was assessed from the adequacy of the curve fitting techniques, as judged by the correlation coefficient and standard error of the estimate, and the accuracy of the different methods in determining the theoretical values of impedance parameters describing a set of model electrical circuits. The experimental data were well fitted by all curve-fitting procedures (r = 0.9 with SEE 0.3 to 3.5% or better for most circuit-procedure combinations). Cole-Cole modelling provided the most accurate estimates of circuit impedance values, generally within 1-2% of the theoretical values, followed by the Siconolfi procedure using a sixth-order polynomial regression (1-6% variation). None of the methods, however, accurately estimated circuit parameters when the measured impedances were low (<20 Omega) reflecting the electronic limits of the impedance meter used. These data suggest that Cole-Cole modelling remains the preferred method for the analysis of MFBIA data.
Resumo:
A protein-truncating variant of CHEK2, 1100delC, is associated with a moderate increase in breast cancer risk. We have determined the prevalence of this allele in index cases from 300 Australian multiple-case breast cancer families, 95% of which had been found to be negative for mutations in BRCA1 and BRCA2. Only two (0.6%) index cases heterozygous for the CHEK2 mutation were identified. All available relatives in these two families were genotyped, but there was no evidence of co-segregation between the CHEK2 variant and breast cancer. Lymphoblastoid cell lines established from a heterozygous carrier contained approximately 20% of the CHEK2 1100delC mRNA relative to wild-type CHEK2 transcript. However, no truncated CHK2 protein was detectable. Analyses of expression and phosphorylation of wild-type CHK2 suggest that the variant is likely to act by haploinsufficiency. Analysis of CDC25A degradation, a downstream target of CHK2, suggests that some compensation occurs to allow normal degradation of CDC25A. Such compensation of the 1100delC defect in CHEK2 might explain the rather low breast cancer risk associated with the CHEK2 variant, compared to that associated with truncating mutations in BRCA1 or BRCA2.
Resumo:
Multiple frequency bio-electrical impedance analysis (MFBIA) may be useful for monitoring fluid balance in newborn infants or to provide early prediction of the outcome following perinatal asphyxia. A reference range of data is needed for identification of babies with abnormal impedance values. This was a cross-sectional observational study in 84 term and near-term healthy neonates less than 12 h postpartum. Whole body and cerebral MFBIA measurements were performed at the bedside in the post-natal ward. Gestational age, post-natal age, gender, birthweight, head circumference and foot length measures were recorded. Reference values for impedance at the characteristic frequency (Z(C)) and resistance at zero frequency (R-0) are reported for whole body and cerebral impedance. Significant correlations (p < 0.05) were observed between whole body impedance and birthweight, footlength and head circumference. Females had a significantly higher whole body R0 than males. Cerebral impedance did not correlate significantly with any of the demographic measures and therewere no gender differences observed for cerebral impedance. The reference range for whole body multi-frequency bio-impedance values in term and near-term infants within the first 12 h postpartum can be calculated from the footlength (FL) using the following equations: Z(C) = (942.9 - 4.818* FL) +/- 124.6 Omega; R-0 = (1042 - 4.520(*)FL) +/- 135.5 Omega. For cerebral impedance the reference range is 29.5-48.7 Omega for Z(C) and 33.7-58.0 Omega for R-0.
Resumo:
The characteristics of high frequency (1000 Hz) acoustic admittance results obtained from normal neonates were described in this study. Participants were 170 healthy neonates (96 boys and 74 girls) aged between 1 and 6 days (mean = 3.26 days, SD = 0.92). Transient evoked otoacoustic emissions (TEOAEs), and 226 Hz and 1000 Hz probe tone tympanograms were obtained from the participants using a Madsen Capella OAE/middle ear analyser. The results showed that of the 170 neonates, 34 were not successfully tested in both ears, 14 failed the TEOAE screen in one or both ears, and 122 (70 boys, 52 girls) passed the TEOAE screen in both ears and also maintained an acceptable probe seal during tympanometry. The 1000 Hz tympanometric data for the 122 neonates (244 ears) showed a single-peaked tympanogram in 225 ears (92.2 %), a flat-sloping tympanogram in 14 ears (5.7 %), a double-peaked tympanogram in 3 ears (1.2 %) and other unusual shapes in 2 ears (0.8 %). There was a significant ear effect, with right ears showing significantly higher mean peak compensated static admittance and tympanometric width, but lower mean acoustic admittance at +200 daPa and gradient than left ears. No significant gender effects or its interaction with ear were found. The normative tympanometric data derived from this cohort may serve as a guide for detecting middle ear dysfunction in neonates.
Resumo:
The present study details new turbulence field measurements conducted continuously at high frequency for 50 hours in the upper zone of a small subtropical estuary with semi-diurnal tides. Acoustic Doppler velocimetry was used, and the signal was post-processed thoroughly. The suspended sediment concentration wad further deduced from the acoustic backscatter intensity. The field data set demonstrated some unique flow features of the upstream estuarine zone, including some low-frequency longitudinal oscillations induced by internal and external resonance. A striking feature of the data set is the large fluctuations in all turbulence properties and suspended sediment concentration during the tidal cycle. This feature has been rarely documented.
Resumo:
In natural estuaries, the predictions of scalar dispersion are rarely predicted accurately because of a lack of fundamental understanding of the turbulence structure in estuaries. Herein detailed turbulence field measurements were conducted continuously at high frequency for 50 hours in the upper zone of a small subtropical estuary with semi-diurnal tides. Acoustic Doppler velocimetry was deemed the most appropriate measurement technique for such shallow water depths (less than 0.4 m at low tides), and a thorough post-processing technique was applied. In addition, some experiments were conducted in laboratory under controlled conditions using water and soil samples collected in the estuary to test the relationship between acoustic backscatter strength and suspended sediment load. A striking feature of the field data set was the large fluctuations in all turbulence characteristics during the tidal cycle, including the suspended sediment flux. This feature was rarely documented.
Resumo:
In small estuaries, the predictions of scalar dispersion can rarely be predicted accurately because of a lack of fundamental understanding of the turbulence structure. Herein detailed turbulence measurements and suspended sediment concentrations were conducted simultaneously and continuously at high-frequency for 50 hours per investigation in a small subtropical estuary with semi-diurnal tides. The data analyses provided an unique characterisation of the turbulent mixing processes and suspended sediment fluxes. The turbulence was neither homogeneous nor isotropic, and it was not a Gaussian process. The integral time scales for turbulence and suspended sediment concentration were about equal during flood tides, but differed significantly during ebb tides. The field experiences showed that the turbulence measurements must be conducted at high-frequency to characterise the small eddies and the viscous dissipation process, while a continuous sampling was necessary to characterise the time-variations of the instantaneous velocity field, Reynolds stress tensor and suspended sediment flux during the tidal cycles.
Resumo:
Bioelectrical impedance analysis has found extensive application as a simple noninvasive method for the assessment of body fluid volumes, The measured impedance is, however, not only related to the volume of fluid but also to its inherent resistivity. The primary determinant of the resistivities of body fluids is the concentration of ions. The aim of this study was to investigate the sensitivity of bioelectrical impedance analysis to bodily ion status. Whole body impedance over a range of frequencies (4-1012 kHz) of rats was measured during infusion of various concentrations of saline into rats concomitant with measurement of total body and intracellular water by tracer dilution techniques. Extracellular resistance (R-o), intracellular resistance (R-i) and impedance at the characteristic frequency (Z(c)) were calculated. R-o and Z(c) were used to predict extracellular and total body water respectively using previously published formulae. The results showed that whilst R-o and Z(c) decreased proportionately to the amount of NaCl infused, R-i increased only slightly. Impedances at the end of infusion predicted increases iu TBW and ECW of approximately 4-6% despite a volume increase of less than 0.5% in TBW due to the volume of fluid infused. These data are discussed in relation to the assumption of constant resistivity in the prediction of fluid volumes from impedance data.
Resumo:
Restricted cochlear lesions in adult animals result in plastic changes in the representation of the lesioned cochlea, and thus in the frequency map, in the contralateral auditory cortex and thalamus. To examine the contribution of subthalamic changes to this reorganization, the effects of unilateral mechanical cochlear lesions on the frequency organization of the central nucleus of the inferior colliculus (ICC) were examined in adult cats. Lesions typically resulted in a broad high-frequency hearing loss extending from a frequency in the range 15-22 kHz. After recovery periods of 2.5-18 months, the frequency organization of ICC contralateral to the lesioned cochlea was determined separately for the onset and late components of multiunit responses to tone-burst stimuli. For the late response component in all but one penetration through the ICC, and for the onset response component in more than half of the penetrations, changes in frequency organization in the lesion projection zone were explicable as the residue of prelesion responses. In half of the penetrations exhibiting nonresidue type changes in onset-response frequency organization, the changes appeared to reflect the unmasking of normally inhibited inputs. In the other half it was unclear whether the changes reflected unmasking or a dynamic process of reorganization. Thus, most of the observed changes were explicable as passive consequences of the lesion, and there was limited evidence for plasticity in the ICC. The implications of the data with respect to the primary locus of the changes and to the manner in which they contribute to thalamocortical reorganization are considered. (C) 2003 Wiley-Liss, Inc.
Resumo:
Objective: To compare rates of self-reported use of health services between rural, remote and urban South Australians. Methods: Secondary data analysis from a population-based survey to assess health and well-being, conducted in South Australia in 2000. In all, 2,454 adults were randomly selected and interviewed using the computer-assisted telephone interview (CATI) system. We analysed health service use by Accessibility and Remoteness Index of Australia (ARIA) category. Results: There was no statistically significant difference in the median number of uses of the four types of health services studied across ARIA categories. Significantly fewer residents of highly accessible areas reported never using primary care services (14.4% vs. 22.2% in very remote areas), and significantly more reported high use ( greater than or equal to6 visits, 29.3% vs. 21.5%). Fewer residents of remote areas reported never attending hospital (65.6% vs. 73.8% in highly accessible areas). Frequency of use of mental health services was not statistically significantly different across ARIA categories. Very remote residents were more likely to spend at least one night in a public hospital (15.8%) than were residents of other areas (e.g. 5.9% for highly accessible areas). Conclusion: The self-reported frequency of use of a range of health services in South Australia was broadly similar across ARIA categories. However, use of primary care services was higher among residents of highly accessible areas and public hospital use increased with increasing remoteness. There is no evidence for systematic rural disadvantage in terms of self-reported health service utilisation in this State.
Resumo:
The genetic mechanisms responsible for the formation of adrenocortical adenomas which autonomously produce aldosterone are largely unknown, The adrenal renin-angiotensin system has been implicated in the pathophysiology of these tumours, Angiotensin-converting enzyme (ACE) catalyses the generation of angiotensin II, and the insertion/deletion (I/D) polymorphism of the ACE gene regulates up to 50% of plasma and cellular ACE variability in humans. We therefore examined the genotypic and allelic frequency distributions of the ACE gene I/D polymorphism in 55 patients with aldosterone-producing adenoma, APA, (angiotensin-unresponsive APA n = 28, angiotensin-responsive APA n = 27), and 80 control subjects with no family history of hypertension, We also compared the ACE gene I/D polymorphism allelic pattern in matched tumour and peripheral blood DNA in the 55 patients with APA, The frequency of the D allele was 0.518 and 0.512 and the I allele was 0.482 and 0.488 in the APA and control subjects respectively, Genotypic and allelic frequency analysis found no significant differences between the groups, Examination of the matched tumour and peripheral blood DNA samples revealed the loss of the insertion allele in four of the 25 patients who were heterozygous for the ACE I/D genotype. The I/D polymorphism of the ACE gene does not appear to contribute to the biochemical and phenotypic characteristics of APA, however, the deletion of the insertion allele of the ACE gene I/D polymorphism in 16% of aldosterone-producing adenomas may represent the loss of a tumour suppressor gene/s or other genes on chromosome 17q which may contribute to tumorigenesis in APA.
Resumo:
Objective: To illustrate methodological issues involved in estimating dietary trends in populations using data obtained from various sources in Australia in the 1980s and 1990s. Methods: Estimates of absolute and relative change in consumption of selected food items were calculated using national data published annually on the national food supply for 1982-83 to 1992-93 and responses to food frequency questions in two population based risk factor surveys in 1983 and 1994 in the Hunter Region of New South Wales, Australia. The validity of estimated food quantities obtained from these inexpensive sources at the beginning of the period was assessed by comparison with data from a national dietary survey conducted in 1983 using 24 h recall. Results: Trend estimates from the food supply data and risk factor survey data were in good agreement for increases in consumption of fresh fruit, vegetables and breakfast food and decreases in butter, margarine, sugar and alcohol. Estimates for trends in milk, eggs and bread consumption, however, were inconsistent. Conclusions: Both data sources can be used for monitoring progress towards national nutrition goals based on selected food items provided that some limitations are recognized. While data collection methods should be consistent over time they also need to allow for changes in the food supply (for example the introduction of new varieties such as low-fat dairy products). From time to time the trends derived from these inexpensive data sources should be compared with data derived from more detailed and quantitative estimates of dietary intake.
Resumo:
In order to separate the effects of experience from other characteristics of word frequency (e.g., orthographic distinctiveness), computer science and psychology students rated their experience with computer science technical items and nontechnical items from a wide range of word frequencies prior to being tested for recognition memory of the rated items. For nontechnical items, there was a curvilinear relationship between recognition accuracy and word frequency for both groups of students. The usual superiority of low-frequency words was demonstrated and high-frequency words were recognized least well. For technical items, a similar curvilinear relationship was evident for the psychology students, but for the computer science students, recognition accuracy was inversely related to word frequency. The ratings data showed that subjective experience rather than background word frequency was the better predictor of recognition accuracy.