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At least 469 records · Page 26Linked to original sources
PubMed2005

MCMC multilocus lod scores: application of a new approach.

On extended pedigrees with extensive missing data, the calculation of multilocus likelihoods for linkage analysis is often beyond the computational bounds of exact methods. Growing interest therefore surrounds the implementation of Monte Carlo estimation methods. In this paper, we demonstrate the speed and accuracy of a new Markov chain Monte Carlo method for the estimation of linkage likelihoods through an analysis of real data from a study of early-onset Alzheimer's disease. For those data sets where comparison with exact analysis is possible, we achieved up to a 100-fold increase in speed. Our approach is implemented in the program lm_bayes within the framework of the freely available MORGAN 2.6 package for Monte Carlo genetic analysis (http://www.stat.washington.edu/thompson/Genepi/MORGAN/Morgan.shtml).

Alzheimer Disease↗
PubMed2006

Familial relative risk estimates for use in epidemiologic analyses.

Commonly used crude measures of disease risk or relative risk in a family, such as the presence/absence of disease or the number of affected relatives, do not take into account family structures and ages at disease occurrence. The Family History Score incorporates these factors and has been used widely in epidemiology. However, the Family History Score is not an estimate of familial relative risk; rather, it corresponds to a measure of statistical significance against a null hypothesis that the family's disease risk is equal to that expected from reference rates. In this paper, the authors consider an estimate of familial relative risk using the empirical Bayes framework. The approach uses a two-level hierarchical model in which the first level models familial relative risk and the second considers a Poisson count of the number of affected relatives given the familial relative risk from the first level. The authors illustrate the utility of this methodology in a large, population-based case-control study of breast cancer, showing that, compared with commonly used summaries of family history including the Family History Score, the new estimates are more strongly associated with case-control status and more clearly detect effect modification of an environmental risk factor by familial relative risk.

Aged↗
PubMed1993

A quantitative framework for evaluating the effect of community treatment on the morbidity due to ascariasis.

There is growing emphasis on the use of community treatment to reduce the level of morbidity caused by helminth infection. The design of chemotherapy programmes, in terms of frequency of treatment and proportion of the community treated, would be assisted by a quantitative framework which enabled the morbidity reduction achieved by different approaches to be compared. The present study describes a model developed for this purpose which embodies two innovative features. First, a quantitative score of morbidity (the proportion of individuals harbouring an intense infection) is used to rate the success of a programme and, second, the distribution of helminths in the host population is generated by a mechanism that allows the distribution to change dynamically as a function of both treatment and reinfection. The model behaviour, using values typical of Ascaris lumbricoides, indicates that the benefit derived from community chemotherapy increases non-linearly with the coverage and efficacy of treatment.

Animals↗
PubMed1990

Conflict over emotional expression: psychological and physical correlates.

This study addresses the construct of conflict or ambivalence over emotional expression. Ambivalence is seen as an important mediator in the link between emotional styles and psychological and physical well-being. Using the "personal striving" framework, a questionnaire measure of ambivalent emotional strivings (AEQ) was designed. In Study 1, 292 Ss completed this measure along with questionnaire measures of expressiveness, social desirability, and intense ambivalence. Women scored significantly higher than men on both the AEQ and expressiveness. In Study 2, scores on the AEQ were found to be negatively correlated with self-reported and peer-rated expressiveness. In Study 3, 48 Ss participated in a 21-day study of mood and health. Expressiveness was positively correlated with some measures of well-being and with daily negative affect. Ambivalence was positively correlated with several indices of psychological distress. Although the AEQ correlated with questionnaire measures of physical symptomatology, neither the AEQ nor the expressiveness measures correlated with daily symptom reports. Results support the contention that conflict over emotional expressiveness is a variable worthy of study in its own right, having implications for research on personality and health.

Adaptation, Psychological↗
PubMed1997

Mapping of a familial essential tremor gene, FET1, to chromosome 3q13.

Essential tremor (ET), the most common movement disorder in humans, appears to be inherited as an autosomal dominant trait in many families. The familial form is called familial essential tremor (FET), which seems similar to sporadic essential tremor. ET is a cause of substantial disability, particularly in the elderly. The prevalence of Parkinson's disease and dystonia may be increased in families with ET, but other movement disorders are seldom encountered in these families. Here we report the results of a genome-wide scan for FET genes in 16 Icelandic families with 75 affected individuals, in whom FET was apparently inherited as a dominant trait. The scan, which was performed with a 10-cM framework map, revealed one locus on chromosome 3q13 to which FET mapped with a genome-wide significance when the data were analysed either parametrically, assuming an autosomal dominant model (lod score = 3.71), or non-parametrically (NPL Z score = 4.70, p < 6.4 x 10(-6).

Chromosome Mapping↗
PubMed2001

Mental disturbances and perceived complexity of nursing care in medical inpatients: results from a European study.

AIMS AND OBJECTIVES: The relationship between mental disturbances - anxiety and depression, somatization and alcohol abuse - on admission to internal medicine units and perceived complexity of care as indicated by the nurse at discharge was studied. The goal was to study the utility of short screeners for mental disturbances to select patients for case-management on admission. DESIGN: The study had a cohort design: patients were included on admission and followed through their hospital stay until discharge. The study was conducted within the framework of the European Biomed 1 Risk Factor study. RESEARCH METHODS AND INSTRUMENTS: In the first 3 days of admission the patients were interviewed by a trained health care professional, who scored the SCL-8D, a somatization questionnaire based on the Whiteley-7 and the CAGE. At discharge, nurses rated the complexity of the patient's care. RESULTS: Patients with high scores on anxiety and depression (SCL-8D) and on somatization received higher ratings on perceived nursing complexity than those with low scores, with and without control for age, severity of illness and chronicity. The actual nursing intensity and medical care utilization, as measured daily by means of a checklist, could not explain these relations. No differences were found between patients with high or low scores on alcohol abuse. CONCLUSIONS: The study shows a potential use of screeners for mental disturbances to detect patients for whom nurses might need additional help. However, mental disturbance is not the sole criterion: functional status and other variables that predict medical and nursing care utilization should be included in a screening strategy for case-management programmes.

Activities of Daily Living↗
PubMed2005

Incorporating gene-specific variation when inferring and evaluating optimal evolutionary tree topologies from multilocus sequence data.

Because of the increase of genomic data, multiple genes are often available for the inference of phylogenetic relationships. The simple approach for combining multiple genes from the same taxon is to concatenate the sequences and then ignore the fact that different positions in the concatenated sequence came from different genes. Here, we discuss two criteria for inferring the optimal tree topology from data sets with multiple genes. These criteria are designed for multigene data sets where gene-specific evolutionary features are too important to ignore. One criterion is conventional and is obtained by taking the sum of log-likelihoods over all genes. The other criterion is obtained by dividing the log-likelihood for a gene by its sequence length and then taking the arithmetic mean over genes of these ratios. A similar strategy could be adopted with parsimony scores. The optimal tree is then declared to be the one for which the sum or the arithmetic mean is maximized. These criteria are justified within a two-stage hierarchical framework. The first level of the hierarchy represents gene-specific evolutionary features, and the second represents site-specific features for given genes. For testing significance of the optimal topology, we suggest a two-stage bootstrap procedure that involves resampling genes and then resampling alignment columns within resampled genes. An advantage of this procedure over concatenation is that it can effectively account for gene-specific evolutionary features. We discuss the applicability of the two-stage bootstrap idea to the Kishino-Hasegawa test and the Shimodaira-Hasegawa test.

Biological Evolution↗
PubMed1995

Nurse manager personal traits and leadership characteristics.

A portion of an Organizational Dynamics Paradigm provided the framework for examining urban hospital nurse managers' personality and staff nurses' perceptions of their leadership. Nurse managers' personality traits were comparable to American women in general. On motivation to manage they scored lower than business and health services managers and higher than female public school administrators. Staff nurses rated managers favorably on leadership style, power, and influence. Personality was linked modestly to motivation to manage and selected aspects of leadership.

Adult↗
PubMed2006

A convolutional neural network approach for objective video quality assessment.

This paper describes an application of neural networks in the field of objective measurement method designed to automatically assess the perceived quality of digital videos. This challenging issue aims to emulate human judgment and to replace very complex and time consuming subjective quality assessment. Several metrics have been proposed in literature to tackle this issue. They are based on a general framework that combines different stages, each of them addressing complex problems. The ambition of this paper is not to present a global perfect quality metric but rather to focus on an original way to use neural networks in such a framework in the context of reduced reference (RR) quality metric. Especially, we point out the interest of such a tool for combining features and pooling them in order to compute quality scores. The proposed approach solves some problems inherent to objective metrics that should predict subjective quality score obtained using the single stimulus continuous quality evaluation (SSCQE) method. This latter has been adopted by video quality expert group (VQEG) in its recently finalized reduced referenced and no reference (RRNR-TV) test plan. The originality of such approach compared to previous attempts to use neural networks for quality assessment, relies on the use of a convolutional neural network (CNN) that allows a continuous time scoring of the video. Objective features are extracted on a frame-by-frame basis on both the reference and the distorted sequences; they are derived from a perceptual-based representation and integrated along the temporal axis using a time-delay neural network (TDNN). Experiments conducted on different MPEG-2 videos, with bit rates ranging 2-6 Mb/s, show the effectiveness of the proposed approach to get a plausible model of temporal pooling from the human vision system (HVS) point of view. More specifically, a linear correlation criteria, between objective and subjective scoring, up to 0.92 has been obtained on a set of typical TV videos.

Algorithms↗
PubMedDate not supplied

Impact of the Ottawa Decision Support Framework on the agreement and the difference between patients' and physicians' decisional conflict.

BACKGROUND: The Ottawa Decision Support Framework (ODSF) provides a process that facilitates shared decision making. OBJECTIVE: To assess the impact of implementing the ODSF on the agreement and the difference between patients' and physicians' decisional conflict scores. DESIGN: In total, 120 physicians and 903 patients enrolled in this before-and-after study. Implementation of the ODSF was composed of an interactive workshop, feedback, and a reminder at the point of care. The Decisional Conflict Scale (DCS) was completed by physicians and patients after a clinical encounter. RESULTS: The intraclass correlation coefficient was-0.205 +/- 0.096 (95% confidence interval [CI]= - 0.224 to -0.186) before implementing the ODSF and- 0.013 +/- 0.114 (95% CI = - 0.036 to 0.009) after. At the patient level, the following factors were significantly associated with the difference between the patients' and physicians' DCS: unemployed (P = 0.023), implementing the ODSF (P = 0.008), high school degree (P = 0.04), male (P = 0.03), and unilateral role in decision making (P = 0.03). At the physician level, provincial committee (P = 0.001), national committee (P = 0.045), clinical site (P = 0.016), reluctance to share uncertainty (P = 0.023), and anxiety due to uncertainty (P = 0.017) were significantly associated with this outcome. CONCLUSION: After implementing the ODSF, there was less dissimilarity between patients' and physicians' DSC than expected by chance than before. Implementing the ODSF was also found to be associated with the difference between patients' and physicians' DSC. The physician level explained a significant amount of the variance in this outcome, thus emphasizing the importance of an intervention at this level.

Adult↗
PubMed2006

The relationship between general practice characteristics and quality of care: a national survey of quality indicators used in the UK Quality and Outcomes Framework, 2004-5.

BACKGROUND: The descriptive information now available for primary care in the UK is unique in international terms. Under the 'Quality and Outcomes Framework' (QOF), data for 147 performance indicators are available for each general practice. We aimed to determine the relationship between the quality of primary care, as judged by the total QOF score, social deprivation and practice characteristics. METHODS: We obtained QOF data for each practice in England and linked these with census derived data (deprivation indices and proportion of patients born in a developing country). Characteristics of practices were also obtained. QOF and census data were available for 8480 practices. RESULTS: The median QOF score was 999.7 out of a possible maximum of 1050 points. Three characteristics were independently associated with higher QOF scores: training practices, group practices and practices in less socially deprived areas. In a regression model, these three factors explained 14.6% of the variation in QOF score. Higher list sizes per GP, turnover of registered patients, chronic disease prevalence, proportions of elderly patients or patients born in a developing country did not contribute to lower QOF scores in the final model. CONCLUSION: Socially deprived areas experience a lower quality of primary care, as judged by QOF scores. Social deprivation itself is an independent predictor of lower quality. Training and group practices are independent predictors of higher quality but these types of practices are less well represented in socially deprived areas.

Aged↗
PubMed2004

Illness representations in depression.

BACKGROUND AND OBJECTIVES: Illness representations in physical health problems have been studied extensively using the Self-regulation Model (SRM) focusing on five dimensions of illness beliefs (identity, consequences, causes, timeline and control, or cure). Associations have been found between beliefs about illness and a range of health outcomes. This study aimed to examine models of depression, to assess whether the five dimensions of the SRM are relevant, to compare depression models with those for physical illness, and to examine the psychometric properties of the Illness Perception Questionnaire (IPQ) when used with depression. DESIGN AND METHOD: A sample of 101 women either currently depressed or with a history of depression was asked to write about their experiences of physical sickness and depression. Their responses were analysed in terms of the dimensions of beliefs expressed and the two experiences were compared. The IPQ was also administered to assess the women's perceptions of depression. RESULTS: The women used the same five dimensions of illness as identified in the SRM in describing both their experience of depression and physical sickness. There was evidence of some consistency across the models of the two illnesses in terms of their content and structure. The IPQ was a reliable measure for depressed experiences and discriminated between women who were currently depressed or not. Comparing the women's descriptions of their depression with their IPQ scores showed some relationships between their responses on the two different measures, at least for the consequences and cause dimensions. CONCLUSION: The SRM model and associated methodology may provide an appropriate framework to further explore illness representations in depression. Problems inherent in the study of illness models in depression including the influence of mood on the model are described. Applications of this research area to the understanding of treatment preferences and adherence to treatment in mood disorders are discussed.

Adult↗
PubMed2004

[Depressive symptoms and associated factors in an elderly population in southern Brazil].

OBJECTIVE: To determine the frequency of some depressive symptoms in the elderly, to build up a score of depressive symptoms and to evaluate the association between depressive symptoms and demographic, socioeconomic and behavioral variables. METHODS: A population-based cross-sectional study was conducted in individuals aged 60 and more living in the urban city area of Pelotas, Brazil. The sample was selected in multiple stages based on the city's census tracts. It was used a questionnaire comprising eight question commonly included in depression evaluation instruments and specific to the elderly. Analyses were carried out using multiple linear regressions following a hierarchical approach. RESULTS: A total of 583 subjects were interviewed and non-response rate was 4.7%. Each participant had on the average score of depressive symptoms was 3.4 (SD 2.1)Lack of willingness to carry out daily activities was the most frequent symptom (73.9%) reported. In the adjusted analysis according to the conceptual framework, the following groups had statistically higher averages (p<0.05) of depressive symptoms: older women, individuals with less schooling, unemployed, smokers, and those whose family member or significant other died in the past year. CONCLUSIONS: It was found both high rates of isolated symptoms and high average of depressive symptoms in the study sample, highlighting the importance of studying specific symptoms of the elderly, which are different from those found in young adults.

Aged↗
PubMedDate not supplied

The pattern and severity of wear of resin facings in fixed prosthetic restorations in vivo.

Wear of prosthodontic resin facings in 176 metal-resin canine crowns and retainers for fixed partial dentures was studied in clinical photographs and assessed using a graded scale. Four cross-sectional groups of restorations were studied according to length of clinical service (1, 3, 6, and 9 years). The criteria used during the examination described loss of substance in relationship to the metal cast framework. The method was tested for reliability and consistency. The results showed that the extent of wear increased with increasing time of clinical service (P less than .05). More severe wear scores were assigned to restorations in female patients than to those in male patients (P less than .05), to the mandibular facings compared to those in the maxillae (P less than .05), and the incisal areas of the facings compared to the cervical areas (P less than .05). Patients instructed in oral hygiene measures tended to show more severe wear than noninstructed individuals. A significant association was established between the ratio of vertical and horizontal overlap and the wear scores. Increasing VO/HO ratios seemed to be accompanied by increasing wear.

Chi-Square Distribution↗
PubMedDate not supplied

[Adaptation and validation of the Pediatric Asthma Quality of Life Questionnaire (PAQLQ) in Brazilian asthmatic children and adolescents].

OBJECTIVES: To translate the Pediatric Asthma Quality of Life Questionnaire (PAQLQ) into Portuguese and adapt it to the Brazilian context, for use in children and adolescents with asthma and to validate the adapted version of the questionnaire (PAQLQ-A). METHODS: Children and adolescents (7 to 17 years old) with asthma answered the PAQLQ-A on admission and were assessed using a clinical severity score. According to this score, patients were classified as mild (> or = 2) or moderate/severe (< 2). They were reassessed on at least two occasions at an interval of 2 to 4 weeks. Furthermore, patients in whom asthma was properly controlled were classified as stable, and those in whom it could not be controlled, as unstable. RESULTS: The reproducibility of the PAQLQ-A was evaluated in stable patients by comparing the mean domain scores: symptoms, emotions, activities, and the overall clinical severity score on two predefined occasions with an interval of 15 to 30 days in between. Responsiveness was evaluated among unstable patients. The mean domain scores and the overall score were different on both occasions, and so was the clinical severity score. The validity of the questionnaire was determined by the application of Cronbach's alpha reliability coefficient (alpha = 0.909). CONCLUSIONS: The translation of the PAQLQ into Portuguese did not modify the framework of the original questionnaire; the PAQLQ-A is easy to use, with easy reproducibility, constituting a valuable instrument for the evaluation of the quality of life in children and adolescents with asthma.

Adolescent↗
PubMed2006

An analysis of unclassified missense substitutions in human BRCA1.

Classification of rare sequence variants observed during mutation screening of susceptibility genes in high-risk individuals presents an interesting and medically important challenge. A recently described method for analysis of unclassified variants in BRCA1 and BRCA2 provides an extensible framework within which several different types of analytic data can be integrated. Among the methods already integrated in this framework are a measure of sequence conservation at specific positions in BRCA1 and BRCA2, and a measure of the difference between wild-type and missense amino acid residues, the Grantham Matrix Score. Recently, we extended the idea of Grantham Matrix Scores to multiple sequence alignments by introducing two new measures, the Grantham variation and Grantham Deviation. We also created a measure of risk associated with sets of BRCA1 missense substitutions, the BRCA1-with-BRCA2 Ascertainment Ratio. Here, we complement these measures with a more powerful measure of risk associated with sets of missense substitutions, the Missense Enrichment Ratio. By combining these four measures, we demonstrate two points: (1) pooled evidence is completely in accord with a hypothesis that missense substitutions that fall at variable positions in the alignment of vertebrate BRCA1s and are within the range of variation observed at those positions are neutral, and (2) many of the missense substitutions falling at invariant positions in the alignment must be deleterious and the longer the period over which the position has been invariant, the stronger the evidence that this is so.

Amino Acid Sequence↗
PubMed2024

Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.

Type 2 diabetes (T2D) genome-wide association studies (GWASs) often overlook rare variants as a result of previous imputation panels' limitations and scarce whole-genome sequencing (WGS) data. We used TOPMed imputation and WGS to conduct the largest T2D GWAS meta-analysis involving 51,256 cases of T2D and 370,487 controls, targeting variants with a minor allele frequency as low as 5&#x2009;&#xd7;&#x2009;10-5. We identified 12 new variants, including a rare African/African American-enriched enhancer variant near the LEP gene (rs147287548), associated with fourfold increased T2D risk. We also identified a rare missense variant in HNF4A (p.Arg114Trp), associated with eightfold increased T2D risk, previously reported in maturity-onset diabetes of the young with reduced penetrance, but observed here in a T2D GWAS. We further leveraged these data to analyze 1,634 ClinVar variants in 22 genes related to monogenic diabetes, identifying two additional rare variants in HNF1A and GCK associated with fivefold and eightfold increased T2D risk, respectively, the effects of which were modified by the individual's polygenic risk score. For 21% of the variants with conflicting interpretations or uncertain significance in ClinVar, we provided support of being benign based on their lack of association with T2D. Our work provides a framework for using rare variant GWASs to identify large-effect variants and assess variant pathogenicity in monogenic diabetes genes.

Diabetes Mellitus, Type 2↗
PubMed1999

Personality disorder and the Temperament and Character Inventory in the elderly.

OBJECTIVE: The aim of this study was to determine the prevalence of personality disorders in a group of elderly patients without an organic mental disorder and to examine the relationship between the Temperament and Character Inventory (TCI) and personality disorder symptoms in psychogeriatric clinical practice. METHOD: A total of 91 subjects completed the Structured Clinical Interview for DSM-III-R personality questionnaire and the 125-item TCI. RESULTS: Of the 91 subjects, 34 individuals (31%) had at least one DSM-III-R personality disorder diagnosis, with avoidant, dependent and paranoid personality disorder being the most common. The trends and correlations between the temperament and character dimensions and the correlations between individual personality disorder symptoms and the dimensions were similar to those in the original model. The most significant findings were the strong negative correlations of the character scores of self-directedness and co-operativeness with the total number of personality disorder symptoms, and the fact that the self-directedness scores predicted the number of personality disorder diagnoses. CONCLUSION: The reported prevalence rate is comparable to studies of both younger and older patient populations using similar methodology. The TCI provides a useful framework for further research on personality disorders in the elderly.

Aged↗