100 resultados para frequency of genotypes
Resumo:
Risk equations have been developed to assist in determining fitness for work of people with diseases that may cause rapid loss of control. The four equations calculate the frequency of fatal injury to the person with the disease, the frequency of fatal injury to colleagues in the workplace, and the cost of fatal injury and property damage to the employer, it is suggested that the additional risk of fatal injury to the person with the disease should not exceed the fatal injury rate in high-risk industries such as forestry, fishing and mining. it is also suggested that the additional risk of fatal injury to each colleague should be no more than one-tenth of the fatal injury rate due to motor vehicle accidents in the community. Two hypothetical case examples are given, demonstrating the use of the equations. The equations highlight the need to examine the risks associated with individuals, their specific jobs and their workplaces. They also highlight significant uncertainties in the determination of fitness, which perhaps have been underestimated in the past. Wherever possible, redundant defences should be utilized to prevent accidents in the event of sudden incapacity.
Resumo:
We investigated the genetic mating system of a socially monogamous passerine bird, the Capricorn silvereye Zosterops lateralis chlorocephalus, on an island of the Great Barrier Reef. There were no cases of extrapair paternity (EPP) among 122 offspring from 53 broods detectable by minisatellite or microsatellite DNA fingerprinting. Behavioral observations of paired birds showed that this was not a consequence of efficacious paternity guards and that females did not engage in extrapair copulation (EPC). Frequency of intrapair copulations was also low, with only 14 cases observed during 199 hours of observations of the 11 focal pairs in the fertile periods of females, and this was consistent with anatomical features of the cloacal protuberance in males. In this population, young birds form life-time pair bonds soon after gaining independence but females are obviously not attempting EPC possibly to redress this early mate choice. This is despite the fact that they breed in high density with a synchronous start and asynchronous spread of laying in a protracted season and males do not positively exhibit mate guarding behavior when females are fertile. Our results support high fidelity of socially monogamous birds on islands and are consistent with the hypothesis that sexual selection is reduced where genetic variation in fitness is limited.
Resumo:
Negative mood states are credited to exacerbate excessive drinking among problem drinkers. We developed an emotional cue exposure treatment procedure and applied it to three problem drinkers who have a history of drinking excessively under stressful emotional states. All three preferred a controlled drinking goal and received an average of seven sessions of treatment. Treatment comprised of providing alcohol (priming doses), followed by negative mood induction and response prevention of further drinking. Reductions were observed in the quantity and frequency of drinking, the Beck Depression Inventory, the Severity of Alcohol Dependence Questionnaire (Form C) and the Impaired Control Questionnaire scores. Increments were observed in self-efficacy to face different difficult situations. These gains were maintained at the 6-month follow-up. Providing alcohol to problem drinkers in treatment, followed by negative mood induction and response prevention, is clinically feasible and may benefit clients who drink under a variety of stressful mood states. Copyright (C) 2001 John Wiley & Sons, Ltd.
Resumo:
Background: This project investigated the aetiology of dental and oral trauma in a population in southeast Queensland. The literature shows there is a lack of dental trauma studies which are representative of the general Australian population. Method: Twelve suburbs in the south-east district of Queensland were randomly selected according to population density in these suburbs for each 25th percentile. All dental clinics in these suburbs were eligible to participate. Patients presenting with dental and oral trauma were eligible to participate. Results: A total of 197 patients presented with dental/oral trauma over a 12 month period. The age of patients ranged from 1-64 years whilst the most frequently presenting age group was 6-10 years. There was a total of 363 injured teeth with an average of 1.8 injured teeth per patient. Males significantly outnumbered females in the incidence of trauma. Conclusions: The highest frequency of trauma occurred in the 6-10 year age group. Most injuries in this group occurred while playing or riding bicycles. In the next most prevalent trauma group, 16-20 years, trauma occurred as a result of fighting and playing sport. Overall, males significantly outnumbered females by approximately 1.8:1.0. The majority of injuries in the deciduous dentition were to periodontal tissues. In the secondary dentition most injuries were to hard dental tissue and pulp.
Resumo:
Mutations in exon 3 of the CTNNB1 gene encoding beta-catenin have been reported in colorectal cancer cell lines and tumours. Although one study reported mutations or deletions affecting beta-catenin in 20% of melanoma cell lines, subsequent reports detected a much lower frequency of aberrations in uncultured melanomas. To determine whether this difference in mutation frequency reflected an in vitro culturing artefact, exon 3 of CTNNB1 was screened in a panel of 62 melanoma cell lines. In addition, reverse transcription-polymerase chain reaction (RT-PCR) was performed to detect intragenic deletions affecting exon 3. One out of 62 (1.6%) cell lines was found to carry a mutation, indicating that aberration of the Wnt-l/wingless pathway through activation of beta-catenin is a rare event, even in melanoma cell lines. (C) 2002 Lippincott Williams Wilkins.
Resumo:
The frequency of prospective memory failure in individuals with severe traumatic brain injury (TBI) was investigated by comparison with a non-brain-injured control group. Self-awareness of prospective memory function was also assessed by comparing self-ratings with ratings by significant others. Study participants included 33 individuals with severe TBI and 29 non-brain-injured persons. Each participant nominated a close friend or relative who completed the informant's version of the questionnaire. Participants and their significant others both rated the participants' frequency of prospective memory lapses using the Comprehensive Assessment of Prospective Memory (CAPM). An independent groups design was adopted to compare the TBI and control groups. No significant difference was found between the TBI and control participants' self-ratings of frequency of prospective memory failure, but ratings by significant others were significantly different. The TBI group demonstrated less self-awareness (i.e. underestimated the frequency of prospective memory failure compared to significant others) than the control group.
Resumo:
The use of cervical manipulation presents concerns because of a risk of devastating side effects of trauma to the vertebral artery. Little is known about the frequency of use of cervical manipulation versus passive mobilisation by physiotherapists. A recent national, multi-centre randomised clinical trial of the physiotherapy management of cervicogenic headache provided an opportunity to gain an insight into practices of a sample of manipulative physiotherapists across Australia. The treatment records for the 100 subjects who received only manipulative therapy, or manipulative therapy with exercise as per the trial protocol, were audited. The results revealed that cervical manipulation was used in 20.2% of the 1090 treatments provided to these subjects but cervical joint mobilisation only was used in the vast majority of treatments (77.6%). Nevertheless, 42% of subjects were treated with cervical manipulation at some time. In most instances, manipulation was accompanied by passive mobilisation in the same treatment session. Patients were manipulated on one to six occasions and this occurred predominantly in the latter half of the 12-treatment program. Cervical manipulation was used less frequently in the group who also received exercise. The data suggest that the physiotherapists participating in this study used cervical manipulation selectively and relatively conservatively considering the high use of cervical mobilisation techniques. This may reflect their due regard to safety in the treatment of the cervical region.
Resumo:
The relationships between catalytic activity of cytochrome P450 2A6 (CYP2A6), polymorphism of CYP2A6 gene, gender and levels of body iron stores were analysed in a sample group of 202 apparently healthy Thais, aged 1947 years. Eleven individuals were found to have high activity of CYP2A6, judged by the relatively large amounts (11.2-14.6 mg) of 7-hydroyxcoumarin (7-OHC) excreted 3 h following administration of 15 mg of coumarin. Ten individuals, however, did not excrete any 7-OHC. Of these 10, four were found to have no CYP2A6 gene (whole gene deletion; CYP2A6*4 allele). The frequency of the CYP2A6 alleles; *1A, *1B and *4 in the whole sample group was 52, 40 and 8% while the frequency of the CYP2A6 gene types; *1A/* 1A, *1A/* 1B, *1B/* 1B, *1A/* 4, *1BI* 4, *4/* 4 was 29, 41, 16, 7, 5 and 2%. Subjects having CYP2A6* 1A/* 1B gene-type group were found to have higher rates of coumarin 7-hydroxylation compared with those of the CYP2A6* 1B/* 1B and CYP2A6* 1A/* 4 gene types. The inter-individual variability in CYP2A6 catalytic activity was therefore attributed in part to the CYP2A6 genetic polymorphism. Variation in CYP2A6 activity in this sample group was not associated with gender but, interestingly, it did show an inverse association with plasma ferritin; an indicator of body iron stores. Higher rates of coumarin 7-hydroxylation were found in individuals with low body iron stores (plasma ferritin < 20 μg/l) compared with subjects having normal body iron store status. Subjects (n = 16) with iron overload (plasma ferritin > 300 mug/l) also tended to have elevated rates of coumarin 7-hydroxylation. These results suggest an increased CYP2A6 expression in subjects who have excessive body iron stores. Further investigations into the underlying factors that may lead to increased expression of CYP2A6 in association with abnormal body iron stores are currently in progress in our laboratory. Pharmacogenetics 12:241-249 (C) 2002 Lippincott Williams Wilkins.
Resumo:
This study explored the relationship between coping, alcohol expectancies and drinking refusal self-efficacy in predicting drinking behaviour in both community and clinical samples. These variables were found to have differential effects in their association with frequency and volume of alcohol consumption across the two samples. Generally, drinking refusal self-efficacy was a more salient factor in relation to frequency and volume of community drinking, while coping and expectancies were more strongly associated with frequency of drinking sessions by problem drinkers. The interaction between expectancies and drinking refusal self-efficacy was related to volume of consumption in both groups, while coping and expectancies interacted in their association with frequency in the clinical group. The findings are discussed with regard to the different patterns of cognitive variables governing the decision to drink and the amount consumed in each drinking session, which may differentiate community and problem drinkers.
Resumo:
It has long been supposed that the interference observed in certain patterns of coordination is mediated, at least in part, by peripheral afference from the moving limbs. We manipulated the level of afferent input, arising from movement of the opposite limb, during the acquisition of a complex coordination task. Participants learned to generate flexion and extension movements of the right wrist, of 75degrees amplitude, that were a quarter cycle out of phase with a 1-Hz sinusoidal visual reference signal. On separate trials, the left wrist either was at rest, or was moved passively by a torque motor through 50degrees, 75degrees or 100degrees, in synchrony with the reference signal. Five acquisition sessions were conducted on successive days. A retention session was conducted I week later. Performance was initially superior when the opposite limb was moved passively than when it was static. The amplitude and frequency of active movement were lower in the static condition than in the driven conditions and the variation in the relative phase relation across trials was greater than in the driven conditions. In addition, the variability of amplitude, frequency and the relative phase relation during each trial was greater when the opposite limb was static than when driven. Similar effects were expressed in electromyograms. The most marked and consistent differences in the accuracy and consistency of performance (defined in terms of relative phase) were between the static condition and the condition in which the left wrist was moved through 50degrees. These outcomes were exhibited most prominently during initial exposure to the task. Increases in task performance during the acquisition period, as assessed by a number of kinematic variables, were generally well described by power functions. In addition, the recruitment of extensor carpi radialis (ECR), and the degree of co-contraction of flexor carpi radialis and ECR, decreased during acquisition. Our results indicate that, in an appropriate task context, afferent feedback from the opposite limb, even when out of phase with the focal movement, may have a positive influence upon the stability of coordination.
Resumo:
The haploid NK model developed by Kauffman can be extended to diploid genomes and to incorporate gene-by-environment interaction effects in combination with epistasis. To provide the flexibility to include a wide range of forms of gene-by-environment interactions, a target population of environment types (TPE) is defined. The TPE consists of a set of E different environment types, each with their own frequency of occurrence. Each environment type conditions a different NK gene network structure or series of gene effects for a given network structure, providing the framework for defining gene-by-environment interactions. Thus, different NK models can be partially or completely nested within the E environment types of a TPE, giving rise to the E(NK) model for a biological system. With this model it is possible to examine how populations of genotypes evolve in context with properties of the environment that influence the contributions of genes to the fitness values of genotypes. We are using the E(NK) model to investigate how both epistasis and gene-by-environment interactions influence the genetic improvement of quantitative traits by plant breeding strategies applied to agricultural systems. © 2002 Wiley Periodicals, Inc.
Resumo:
Experimental treatments to compare behavioural responses included native fish species only, natives plus one exotic species and natives plus both exotic species. The mosquitofish, Gambusia holbrooki frequently attacked both native species, but tended to nip Melanotaenia duboulayi (especially small individuals) and chase Pseudomugil signifer The frequency of attacks by G. holbrooki on M. duboulayi rose when all four fish species were present. When food was added, all four species showed a strong increase in aggression, especially in the four-species treatment, where there were significant increases in the frequency of attacks by the swordtail Xiphophorus helleri on M. duboulay and by M. duboulayi on G. holbrooki, and of conspecific attacks by M. duboulayi. Increased attack frequency was associated with aggregation closer to the water's surface, regardless of the presence of food. The results support the hypothesis that introduced poeciliids can have deleterious competitive effects on native species. However, while juvenile M. duboulayi were particularly vulnerable to the secondary, effects of fin-nipping, R signifer appeared to be more susceptible to physical displacement and reduced food capture success.
Resumo:
Background: Increasingly there is a call from clinicians and researchers for measures that document the impact of aphasia on a person's everyday communication. Do existing assessments of communication disability adequately sample communication activities relevant to our clients? Communication skills and networks change with age. A need exists to determine the everyday communication activities of older people and in particular those with aphasia. Aims: The primary aim of this study was to describe and compare the everyday communication activities of older people with aphasia and healthy older people who are living in the community. A secondary aim was to investigate the content validity of the American Speech-Language Hearing Association Functional Assessment of Communication Skills for Adults (ASHA FACS, 1997) for older Australians. Methods & Procedures: Naturalistic observation was the method of choice for detailing the everyday communication of 15 older people with chronic aphasia following stroke and a matched group of 15 healthy older people who were living in the community. Researchers, in the role of participant observer, took field notes for 8 hours, over three occasions within a week. A total of 240 hours of observation have been coded in terms of communication activity, topic, communication partners, and place of communication. A brief 5-day diary served to check the representativeness of the observational data. After each hour of observation, the researcher checked which ASHA FACS items had been observed. Outcomes & Results: Naturalistic observation provided a rich, rigorous, and systematic methodology for detailing the dynamics and complexities of authentic communication. The most common communication activities for both groups were conversations at home and in social groups. Real-life communication was revealed to serve the dual purposes of transaction and interaction. Results indicate that older people with aphasia engage in similar communication activities to healthy older people although differences were evident in the frequency of communication and in specific activities such as story telling, writing, commenting, and acknowledging. ASHA FACS items were generally relevant to older Australians living in the community. Conclusions: This study demonstrated that communication activity is multifaceted in terms of the type of communication and contextual factors. The observational data describe the effects of aphasia on a person's everyday communication activity and reveal the impact of aphasia on the social functions of communication including sharing information, maintaining and establishing relationships, and telling one's story. Functional communication assessment requires a greater focus on the interactional and uniquely interpersonal aspects of social communication.
Resumo:
Background.-A number of extraneous factors have been implicated in the effectiveness of treatment of headache, including patient beliefs about aspects of the treatment or persons delivering the treatment. Objective.-The concept of external locus of control for headaches refers to patients with a high level of belief that headache and relief are influenced primarily by health care professionals. The aim of this study was to examine whether external locus of control is associated with a reduction in frequency of cervicogenic headaches among patients treated by a physiotherapist. Design.-A recent randomized controlled trial of the effectiveness of physiotherapy among 200 patients with headache enabled a test of this relationship. Treatment consisted of manipulative therapy, therapeutic exercise, or a combination of the 2. Analysis of relative change in headache frequency was conducted after 6 weeks of treatment and at 3- and 12-month follow-up appointments. Results.-Results of the analysis indicated that participants with relatively high external Headache-Specific Locus of Control scores were more likely to achieve a reduction in headache frequency if they received the combined manipulative therapy and exercise therapy, compared with those who received no treatment. This was not determined for the group who received manipulative therapy, which is a treatment received passively by the patient. Conclusions.-The interpretation of these findings is considered in the context of nongeneralization to the other physiotherapy treatment groups and sustained reduction in headache frequency following withdrawal of treatment. The pattern of findings suggests that characteristics of the therapy were more pertinent than characteristics of the therapist.
Resumo:
The tests that are currently available for the measurement of overexpression of the human epidermal growth factor-2 (HER2) in breast cancer have shown considerable problems in accuracy and interlaboratory reproducibility. Although these problems are partly alleviated by the use of validated, standardised 'kits', there may be considerable cost involved in their use. Prior to testing it may therefore be an advantage to be able to predict from basic pathology data whether a cancer is likely to overexpress HER2. In this study, we have correlated pathology features of cancers with the frequency of HER2 overexpression assessed by immunohistochemistry (IHC) using HercepTest (Dako). In addition, fluorescence in situ hybridisation (FISH) has been used to re-test the equivocal cancers and interobserver variation in assessing HER2 overexpression has been examined by a slide circulation scheme. Of the 1536 cancers, 1144 (74.5%) did not overexpress HER2. Unequivocal overexpression (3+ by IHC) was seen in 186 cancers (12%) and an equivocal result (2+ by IHC) was seen in 206 cancers (13%). Of the 156 IHC 3+ cancers for which complete data was available, 149 (95.5%) were ductal NST and 152 (97%) were histological grade 2 or 3. Only 1 of 124 infiltrating lobular carcinomas (0.8%) showed HER2 overexpression. None of the 49 'special types' of carcinoma showed HER2 overexpression. Re-testing by FISH of a proportion of the IHC 2+ cancers showed that only 25 (23%) of those assessable exhibited HER2 gene amplification, but 46 of the 47 IHC 3+ cancers (98%) were confirmed as showing gene amplification. Circulating slides for the assessment of HER2 score showed a moderate level of agreement between pathologists (kappa 0.4). As a result of this study we would advocate consideration of a triage approach to HER-2 testing. Infiltrating lobular and special types of carcinoma may not need to be routinely tested at presentation nor may grade 1 NST carcinomas in which only 1.4% have been shown to overexpress HER2. Testing of these carcinomas may be performed when HER2 status is required to assist in therapeutic or other clinical/prognostic decision-making. The highest yield of HER2 overexpressing carcinomas is seen in the grade 3 NST subgroup in which 24% are positive by IHC. (C) 2003 Elsevier Science Ltd. All rights reserved.