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PubMed1993

Pragmatic language skills after closed head injury: ability to meet the informational needs of the listener.

Two closed-head-injured subjects and 12 non-brain-damaged controls explained a novel procedure to a blindfolded third person. Their productions were transcribed and scored by nine judges on ratings scales based on Grice's maxims of quantity and manner. The two closed-head injury (CHI) productions were significantly inferior to the controls, both being rated as disorganized, confusing, and ineffective. While one subject's production was considered overly repetitive, the other had too little detail. In order to specify, more exactly, the nature of the deficits, a cohesion analysis and an analysis of informational content were performed. The cohesion analysis suggested that the CHI productions were generally similar to the controls. The informational analysis was more revealing. Judgements of detail and repetitiveness were reflected in the number of new and repeated propositions. Errors in sequencing and inclusion of irrelevant propositions contributed to the disorganized and confusing nature of the texts. The results were interpreted within the framework of frontal lobe deficits in monitoring and regulation of performance.

Adult↗

PubMed2003

Health care resource use and stroke outcome. Multinational comparisons within the GAIN International trial.

BACKGROUND AND PURPOSE: Outcome in patients hospitalized for acute stroke varies considerably between populations. Within the framework of the GAIN International trial, a large multicenter trial of a neuroprotective agent (gavestinel, glycine antagonist), stroke outcome in relation to health care resource use has been compared in a large number of countries, allowing for differences in case mix. METHODS: This substudy includes 1,422 patients in 19 countries grouped into 10 regions. Data on prognostic variables on admission to hospital, resource use, and outcome were analyzed by regression models. RESULTS: All results were adjusted for differences in prognostic factors on admission (NIH Stroke Scale, age, comorbidity). There were threefold variations in the average number of days in hospital/institutional care (from 20 to 60 days). The proportion of patients who met with professional rehabilitation staff also varied greatly. Three-month case fatality ranged from 11% to 28%, and mean Barthel ADL score at three months varied between 64 and 73. There was no relationship between health care resource use and outcome in terms of survival and ADL function at three months. The proportion of patients living at home at three months did not show any relationship to ADL function across countries. CONCLUSIONS: There are wide variations in health care resource use between countries, unexplained by differences in case mix. Across countries, there is no obvious relationship between resource use and clinical outcome after stroke. Differences in health care traditions (treatment pathways) and social context seem to be major determinants of resource use. In making comparisons between countries, great care should be exercised in using outcome variables as indicators of quality of stroke care.

Activities of Daily Living↗

PubMed2002

Expert consensus in the development of a European health-related quality of life measure for children and adolescents: a Delphi study.

AIM: To determine the level of consensus among experts regarding content, structure and sources of content for a new European measure of health-related quality of life in children and adolescents. METHODS: A three-round Delphi questionnaire was sent by e-mail to 24 experts in quality of life measurement in 9 European countries. Consensus was considered reached when > 90% of experts either agreed or disagreed with a given statement, or where median scores were over 6 on a scale of 1-10, and score dispersion was within predefined limits. RESULTS: Completed questionnaires were received from 20 panellists in each round. It was agreed that the new instrument should be a multidimensional, profile measure with 30-49 items covering 5-8 dimensions, which should take no more than 10-15 min to complete. Agreement was also reached on 8 specific dimensions to include in the questionnaire (psychological well-being, self-esteem, body image, cognitive functioning, mobility, energy/vitality, social relations, family/home function). Consensus was against the use of individualized questionnaires. Focus groups with children, parents and workers in the field, literature and instrument reviews were considered appropriate sources for content. CONCLUSION: Using a Delphi method in this way for the first time showed it to be a feasible and useful method for establishing a conceptual and operational framework for the Kidscreen questionnaire.

Adolescent↗

PubMed1992

The Ego Impairment Index and schizophrenia: a validation study.

This study is an extension of our work on a new scale, the Ego Impairment Index (EII; Perry & Viglione, 1991). The index is theoretically based on Beres's (1956) model of ego assessment and was empirically developed on a sample of melancholic, depressed outpatients, diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders (3rd ed. [DSM-III]; American Psychiatric Association, 1980). The EII is derived from the Rorschach Inkblot Test and offers a single composite score of ego impairment. This study validates the use of the EII with a heterogeneous sample of schizophrenic patients. In support of the trait-like characteristics of the scale, the EII continues to be expressed as a single factor, with a correlation of .98 when comparing the original factor derived from a melancholic population with this sample of schizophrenic patients. Significant correlations were also found between the EII and other clinical indices, including the Magical Ideation Scale, the Schizophrenia Index, and the Minnesota Multiphasic Personality Inventory (MMPI). Finally, the EII was found to differentiate between a paranoid subgroup and a mixed undifferentiated/disorganized subgroup who theoretically have more ego impairment. These results offer support for the use of the EII as an empirical means of quantitatively and qualitatively assessing thought disorder within a theoretical framework. Further research is needed to understand the application of the EII across different diagnostic groups and its relationship to other indices of psychological disturbance.

Adult↗

PubMed1988

A test of the multiple connections model of reading acquisition.

Within the framework of Society of Mind Theory (Minsky, 1986), learning to read is conceptualized as a process of creating new communication links or neural connections between an existing visual society and an existing linguistic society. Four visual-linguistic connections may become functional: letter-phonemic code, whole word-semantic code, whole word-name code, letter sequence-aural syllabic code. The hypothesis was tested that more than one of these visual-linguistic connections must be taken into account in predicting reading achievement. Results showed that the combination of the composite letter-phoneme variable and the composite whole word-semantic code variable accounted for significantly more variance in oral reading than did either single variable at the end of the first grade. Groups with large absolute discrepancy (1 or more standard scores) or small absolute discrepancy (1/3 standard score or less) on corresponding visual and linguistic skills differed significantly in both oral (whole word-semantic code composite) and silent reading (whole word-semantic code and letter sequence-aural syllabic code composites). There was a relationship between the number of large discrepancies and reading achievement. Results are discussed in reference to neuropsychological models of connectionism (Rumelhart & McClelland, 1986) and working brain systems (Luria, 1973).

Child↗

PubMed2002

Education and sex differences in the mini-mental state examination: effects of differential item functioning.

Years of completed education is a powerful correlate of performance on mental status assessment. This analysis evaluates differences in cognitive performance attributable to level of education and sex. We analyzed Mini-Mental State Examination responses from a large community sample (Epidemiologic Catchment Area study, N = 8,556), using a structural equation analytic framework grounded in item response theory. Significant sex and education group differential item functioning (DIF) were detected. Those with low education were more likely to err on the first serial subtraction, spell world backwards, repeat phrase, write, name season, and copy design tasks. Women were more likely to err on all serial subtractions, men on spelling and other language tasks. The magnitude of detected DIF was small. Our analyses show that failing to account for DIF results in an approximately 1.6% overestimation of the magnitude of difference in assessed cognition between high- and low-education groups. In contrast, nearly all (95%) of apparent sex differences underlying cognitive impairment are due to DIF. Therefore, item bias does not appear to be a major source of observed differences in cognitive status by educational attainment. Adjustments of total scores that eliminate education group differences are not supported by these results. Our results have implications for future research concerning education and risk for dementia.

Aged↗

PubMedDate not supplied

Psychometric properties of the functional performance inventory in patients with chronic obstructive pulmonary disease.

BACKGROUND: The Functional Performance Inventory (FPI) is a subjective measure of the performance dimension of functional status, based on an explicit analytical framework and the experiences of patients themselves. OBJECTIVES: To describe the conceptual foundation of the instrument, the procedures used to maximize content validity, and the results of the initial psychometric testing of the FPI in patients with chronic obstructive pulmonary disease (COPD). METHOD: Items and response structure for the instrument were drawn from the literature and qualitative interviews with 12 men and women with COPD. Twenty-four clinical and scientific experts participated in content validation. To assess the FPI's psychometric characteristics, 154 patients participated in a cross-sectional mail survey; 54 took part in a 2-week reproducibility assessment. Forty relatives were also included in validity testing. RESULTS: The instrument was internally consistent (alpha = .96) and reproducible (ICC = .85). Validity was evident in the significant (p < .001) correlations found between the FPI total score and the Functional Status Questionnaire (activities of daily living, r = .68; instrumental activities of daily living, r = .68), Duke Activity Status Index (r = .61), Bronchitis-Emphysema Symptom Checklist (r = -.59), Basic Need Satisfaction Inventory (r = .61), and Cantril's Ladder of Life Satisfaction (r = .63). The relationship between patient FPI score and relative perception of functioning, using the Katz Adjustment Scale for Relatives, was also significant (socially expected activities, r = .53; free-time activities, r = .49, p < .01). The instrument discriminated between patients with severe and moderate levels of perceived severity and activity limitation (t = 8.52, p <.001) and patients with FEV1 greater than and less than 1.0 liter (t = 4.25, p < .001). CONCLUSIONS: Results suggest that the FPI is a useful measure of functional performance in patients with COPD. Further development of the spiritual activities and work and school domains is in order, as is additional study of the instrument's responsiveness to change.

Activities of Daily Living↗

PubMed2025

OpenSpliceAI: An efficient, modular implementation of SpliceAI enabling easy retraining on non-human species.

The SpliceAI deep learning system is currently one of the most accurate methods for identifying splicing signals directly from DNA sequences. However, its utility is limited by its reliance on older software frameworks and human-centric training data. Here we introduce OpenSpliceAI, a trainable, open-source version of SpliceAI implemented in PyTorch to address these challenges. OpenSpliceAI supports both training from scratch and transfer learning, enabling seamless retraining on species-specific datasets and mitigating human-centric biases. Our experiments show that it achieves faster processing speeds and lower memory usage than the original SpliceAI code, allowing large-scale analyses of extensive genomic regions on a single GPU. Additionally, OpenSpliceAI's flexible architecture makes for easier integration with established machine learning ecosystems, simplifying the development of custom splicing models for different species and applications. We demonstrate that OpenSpliceAI's output is highly concordant with SpliceAI. In silico mutagenesis (ISM) analyses confirm that both models rely on similar sequence features, and calibration experiments demonstrate similar score probability estimates.

Journal Article↗

PubMed2001

Trait psychology and culture: exploring intercultural comparisons.

Personality traits, studied for decades by Western personality psychologists, have recently been reconceptualized as endogenous basic tendencies that, within a cultural context, give rise to habits, attitudes, skills, beliefs, and other characteristic adaptations. This conceptualization provides a new framework for studying personality and culture at three levels. Transcultural research focuses on identifying human universals, such as trait structure and development; intracultural studies examine the unique expression of traits in specific cultures; and intercultural research characterizes cultures and their subgroups in terms of mean levels of personality traits and seeks associations between cultural variables and aggregate personality traits. As an example of the problems and possibilities of intercultural analyses, data on mean levels of Revised NEO Personality Inventory scales from college age and adult samples (N = 23,031) of men and women from 26 cultures are examined. Results showed that age and gender differences resembled those found in American samples; different subsamples from each culture showed similar levels of personality traits: intercultural factor analysis yielded a close approximation to the Five-Factor Model; and factor scores were meaningfully related to other culture-level variables. However, mean trait levels were not apparent to expert raters, casting doubt on the accuracy of national stereotypes. Trait psychology can serve as a useful complement to cultural perspectives on human nature and personality.

Adult↗

PubMed2002

Prediction of food protein allergenicity: a bioinformatic learning systems approach.

Food hypersensitivity is constantly increasing in Western societies with a prevalence of about 1-2% in Europe and in the USA. Among children, the incidence is even higher. Because of the introduction of foods derived from genetically modified crops on the marketplace, the scientific community, regulatory bodies and international associations have intensified discussions on risk assessment procedures to identify potential food allergenicity of the newly introduced proteins. In this work, we present a novel biocomputational methodology for the classification of amino acid sequences with regard to food allergenicity and non-allergenicity. This method relies on a computerised learning system trained using selected excerpts of amino acid sequences. One example of such a successful learning system is presented which consists of feature extraction from sequence alignments performed with the FASTA3 algorithm (employing the BLOSUM50 substitution matrix) combined with the k-Nearest-Neighbour (kNN) classification algorithm. Briefly, the two features extracted are the alignment score and the alignment length and the kNN algorithm assigns the pair of extracted features from an unknown sequence to the prevalent class among its k nearest neighbours in the training (prototype) set available. 91 food allergens from several specialised public repositories of food allergy and the SWALL database were identified, pre-processed, and stored, yielding one of the most extensively characterised repositories of allergenic sequences known today. All allergenic sequences were classified using a standard one-leave-out cross validation procedure yielding about 81% correctly classified allergens and the classification of 367 non-allergens in an independent test set resulted in about 98% correct classifications. The biocomputational approach presented should be regarded as a significant extension and refinement of earlier attempts suggested for in silico food safety assessment. Our results show that the framework described here is powerful enough to become useful as part of a multiple-procedure test scheme that also depicts other evaluation approaches such as solid phase immunoassay and tests for stability to digestions.

Algorithms↗

PubMedDate not supplied

Analysis of chronic obstructive pulmonary disease referrals for lung volume reduction surgery. The University of California San Diego Emphysema Treatment Group.

BACKGROUND: Preliminary results of lung volume reduction surgery (LVRS) for patients with severe emphysema are promising, although many issues regarding the selection process for LVRS are still unaddressed. For example, it is unclear which patients should be referred for pulmonary rehabilitation, lung transplantation, or LVRS, and whether health-care providers are optimizing conservative treatment options before referral for surgical intervention. The purpose of this analysis is to describe preliminary results of the evaluation process for LVRS implemented as part of an integrated, programmatic approach to the evaluation, treatment, and rehabilitation of patients with advanced emphysema. METHODS: The records of 105 consecutive patients with chronic obstructive pulmonary disease (COPD) referred for consideration for LVRS at the University of California San Diego Medical Center were reviewed. Results of prospective data collection pertaining to patient demographic, baseline dyspnea scores, and history of prior treatment, including pulmonary rehabilitation, were extracted. Patient disposition after the evaluation was noted. RESULTS: One hundred five patients (mean age 65 years, range 40 to 84 years) completed evaluation. Fifty-eight had never before participated in pulmonary rehabilitation, and 47 of these patients were eventually referred to a rehabilitation program. Fourteen patients were referred for consideration of lung transplantation, 25 were considered eligible for LVRS, 13 were still undergoing rehabilitation and surgical eligibility had not yet been determined, and 53 were ineligible for LVRS because patients had other illnesses (n = 34), did not meet radiological or physiologic criteria (n = 5), were considered too ill (n = 5), or were too healthy (n = 9) after rehabilitation to warrant surgical intervention. CONCLUSIONS: Lung volume reduction surgery is a surgical option to be considered within the framework of an integrated medical evaluation program that includes pulmonary rehabilitation. Pulmonary rehabilitation remains an often underused therapeutic alternative in patients with severe COPD. It has become the central component of our comprehensive management program for patients with severe dyspnea and deteriorating quality of life.

Adult↗

PubMed2025

How Does Tendon Region, Donor, and the Presence of Disease Affect Protein Composition of the Achilles Tendon?

BACKGROUND: Response to treatment for tendinopathy is variable, which may reflect variability in underlying etiology and capacity for the tendon to respond to treatment. Understanding variability in tendon protein composition may help improve our understanding of the mechanistic underpinnings of painful tendon degeneration and inform treatment targets. QUESTIONS/PURPOSES: (1) What factors (tendon region, individual characteristics, presence of disease) contribute to protein compositional (proteomic) and structural variation in human Achilles tendons? (2) What compositional changes characterize tendinopathy, and what protein interactions might contribute to tendon degeneration? (3) How does diabetes influence tendon composition, and what mechanisms might underlie tendon dysfunction in individuals with diabetes? METHODS: In this exploratory, cross-sectional study, human Achilles tendon specimens were obtained from individuals with (diabetes group, n = 5) or without diabetes (control group, n = 5) undergoing lower extremity amputation and from individuals undergoing tendon debridement surgeries for tendinopathy (tendinopathy group, n = 8). Specimens were collected between 2019 and 2023. Protein abundances were quantified and analyzed using mass spectrometry, hierarchical clustering, and principal component analysis. To evaluate the role of tendon region and donor on tendon protein compositional variability, we assessed proteomic differences between three regions in nontendinopathic tendons from three individuals. To identify the contribution of disease (that is, presence of tendinopathy or diabetes) on protein composition, we compared tendons from the tendinopathy (n = 8 [2 males, 6 females], mean ± SD age 48 ± 11 years), diabetes (n = 5 [3 males, 2 females], age 54 ± 9 years), and control (n = 5 [3 males, 2 females], age 42 ± 12 years) groups. Proteomic differences associated with tendinopathy and diabetes were further examined using functional enrichment and protein-protein interaction network analysis. RESULTS: Variability in tendon protein composition was primarily from presence of disease, followed by donor and then tendon region. Protein composition distinguished tendons with tendinopathy from controls, with 311 proteins differentially expressed (152 overexpressed and 159 underexpressed; fold change ≥ 1.5, p < 0.05) and higher Bonar scores indicating greater degeneration (mean ± SD Bonar score tendinopathy group 8.6 ± 1.2 versus control group 2.1 ± 0.7; p = 0.01). Pathway analysis identified dysregulation in extracellular matrix remodeling (TIMP1, MMP3, MMP10), inflammatory response (TNF-α, EGFR1), and metabolic reprogramming. Tendons from individuals with diabetes exhibited minimal proteomic changes compared with the control group, with 66 differentially expressed proteins (31 overexpressed and 35 underexpressed; fold change ≥ 1.5, p < 0.05) with no histopathologic differences between diabetes and control group tendons (mean ± SD Bonar score diabetes group 3.4 ± 1.0 versus control group 2.1 ± 0.7; p = 0.19). Tendons in the diabetes group showed reductions in Type I collagen, enrichment of pathways associated with fibrosis and metabolic dysfunction, and inflammatory pathways associated with α 6 β 4 integrin. CONCLUSION: Our findings indicate that Achilles tendon composition primarily differs based on disease etiology, with tendinopathy showing extensive extracellular matrix disruption and inflammatory activity, whereas tendons from individuals with diabetes exhibit more subtle compositional changes. This distinction suggests that tendinopathy may require targeted interventions addressing tissue remodeling and inflammation, whereas diabetes may predispose tendons to injury but not directly result in degeneration. Understanding these protein compositional variations can help refine hypotheses about disease progression, treatment response, and potential therapeutic targets. CLINICAL RELEVANCE: While proteomic analysis is not currently a part of routine clinical assessment, these findings provide a framework for identifying protein markers that may aid in early diagnosis or patient stratification to improve treatment alignment. Future studies could determine whether these proteomic changes correlate with treatment response and further inform our understanding of early-stage degeneration from chronic disease. By bridging molecular findings with clinical presentation, this study lays the groundwork for future research on precision medicine approaches for tendon disorders, with the long-term goal of tailoring treatment based on both biological and symptomatic characteristics.

Humans↗

PubMed2005

Perceptions of psychosis, coping, appraisals, and psychological distress in the relatives of patients with schizophrenia: an exploration using self-regulation theory.

OBJECTIVE: Following Leventhal's self-regulation model, the purpose of the present study was to provide an examination of the relationship between psychosis perceptions, coping strategies, appraisals, and distress in the relatives of patients with schizophrenia. DESIGN: Cross-sectional study. METHOD: Participants were 42 relatives of patients with schizophrenia who completed the Hospital Anxiety and Depression Scale (HADS), a brief coping strategies measure (COPE), the Revised Illness Perception Questionnaire (IPQR), and a measure of primary and secondary appraisals (Family Questionnaire). RESULTS: In general, carers who viewed their relative's psychosis as chronic, who had a stronger illness identity (experience of symptoms), who held a stronger belief in the severity of its consequences, and who reported weaker beliefs in treatment control but stronger beliefs that their relative could exert control over their condition had higher distress scores. Coping through seeking emotional support, the use of religion/spirituality, active coping, acceptance, and positive reframing were associated with less distress, while coping through self-blame was associated with higher distress scores. Hierarchical regression demonstrated that illness perceptions and coping (acceptance, positive reframing, and self-blame), respectively, made significant additional contributions to the variance in distress when entered after demographics, and primary and secondary appraisals. Furthermore, a mediational analysis suggested that coping strategies characterized by greater positive reframing, less self-blame, and greater acceptance mediated the relationship between distress, and both illness identity and carer's beliefs about how much personal control the patient could exercise over their condition. There was no mediational effect of coping on the relationship between distress and carers' perceptions about symptom control through medical treatment. CONCLUSION: Results provide partial but not unequivocal support for the self-regulation model in the current sample. Findings may invite us to consider the further use of the self-regulation/common sense model as a framework for understanding distress in the carers of people with a diagnosis of schizophrenia.

Adaptation, Psychological↗

PubMed2002

[Progression of the pension-application process in psychosomatic patients].

Psychosomatic disorders have become increasingly important as a reason for premature retirement. To identify specific characteristics of pension applicants, we broke a random sample consisting of 1,109 patients admitted to Burg Hospital within the framework of psychosomatic rehabilitation programmes into three main groups: a) patients who had not applied for any kind of pension benefits and 'high-risk groups' of pension aspirants who b) had either already submitted an application or c) intended to do so. The comparison of the sociomedical data from the two groups showed that the high-risk group contained a markedly larger percentage of unemployed patients and patients who had been on sick leave for longer periods. The average age of the pension aspirants was higher. Moreover, this group contained a larger percentage of male patients than did the non-applicant group. An assessment of rehabilitation potential uncovered a distinctly depressed potential in the high-risk group. Moreover, the assessment of individual patient performance conducted at the end of each rehabilitation programme yielded significantly lower scores for the high-risk groups in comparison with the non-applicant group. On the basis of the decrease in symptoms, it is evident that only small therapeutic success can be achieved with these patients, who as a group display a significantly lower therapeutic motivation than their non-applicant counterparts. Furthermore, there was a higher incidence of recurrent depressive disorders and somatic pain disorders in the high-risk groups. The development of pension aspirations can be described as a process starting with a disorientation phase, proceeding to an ambivalence phase and culminating in a rigid terminal phase. Patients who have reached this stage are generally resistant to rehabilitation efforts. For this reason, early recognition of pension aspirations is of critical importance.

Adult↗

PubMed2004

Cardiovascular risks in firefighters: implications for occupational health nurse practice.

Limited cardiovascular risk data are available for firefighters. This cross sectional study of data collected during annual physical examinations described the prevalence of cardiovascular risk factors among firefighters (N = 200) and examined relationships between body mass index (BMI) and other cardiovascular risk factors. Evidence based guidelines were used to determine prevalence of cardiovascular risk factors and Framingham risk scoring was used to estimate probability of coronary heart disease (CHD). Firefighters ranged in age from 22 to 64 with a mean of 41. The prevalence of obesity, elevated total cholesterol, and elevated blood pressure in firefighters exceeded Healthy People 2010 targets. In addition, their prevalence of obesity, low high density lipoprotein (HDL), high low density lipoprotein (LDL), and high total cholesterol levels was higher relative to the general population. Elevated body mass index (BMI) values had positive significant (p < or = .01) associations with elevated blood pressures, triglycerides, and glucose levels, and a negative significant (p < .05) association with lower HDL cholesterol levels. Fire department worksite health and fitness policies and programs should proactively target firefighters' cardiovascular risks. Future firefighter related intervention research will benefit from considering not only the individual determinants of cardiovascular disease, but also the ecological framework that includes the influences of workplace and external environmental factors.

Adult↗

PubMed1993

Modeling growth and individual differences in spatial tasks.

The goal of the present research is to understand individual differences and growth of children's and adolescents' performance on two spatial tasks through a formal model framework. In Study 1, 579 subjects aged 7-16 years old drew lines to represent their water-level task predictions for eight tilted rectangular vessels. In the verticality task, called the "van task," subjects drew lines representing their predictions concerning the orientation of a plumb line suspended from the ceiling of a van parked on eight different inclines. In Study 2, 185 subjects aged 9-16 years were presented with video displays on a computer monitor and were instructed to adjust lines on the screen to indicate their predictions for the same stimuli used in Study 1. Later, they responded to a multiple-choice verbal analogies test and answered interview questions concerning their task performance strategies for the van and water-level tasks. In both studies, responses on the van and water-level tasks were scored as correct or incorrect on the basis of empirically derived scoring criteria that varied with age. The number of correct responses for each subject on the van and water-level tasks was modeled as a binomial random variable. Individual differences, growth differences, and sex differences in task performance were modeled as mixtures of binomial distributions, a model that may be viewed as a latent class model. Data for Study 1 subjects 11 years and older were combined so that the joint structure of the water-level and van tasks could be studied. This structure was modeled as a mixture of bivariate binomial distributions. On the basis of their task performance, subjects in Study 1 were assigned to their corresponding latent classes. Once classified, the original response distributions of subjects within each latent class were explored in an effort to understand their various response strategies. Additionally, the correspondence between verbal explanations and van and water-level task performance was investigated in Study 2. Results include the following: 1. A two-component binomial mixture distribution fit well the van and water-level task data for each age and sex group; each binomial component may be viewed as a different latent class. Variance accounted for under the model often exceeded 90%. One binomial component (latent class) modeled the poor performers with poor task success rates, and the second component modeled the remaining good performers who consistently performed well.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗

PubMed2006

Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese.

Several linkage studies have predicted that human chromosome 20q is closely related to type 2 diabetes, but there is no clear evidence that certain variant(s) or gene(s) have strong effects on the disease within this region. To examine disease susceptibility variant in Japanese, verified SNPs from the databases, with a minor allele frequency larger than 0.15, were selected at 10-kb intervals across a 19.31-Mb region (20q11.21-13.13), which contained 291 genes, including hepatocyte nuclear factor 4alpha (HNF4alpha). As a result, a total of 1,147 SNPs were genotyped with TaqMan assay using 1,818 Japanese samples. By searching for HNF4alpha as a representative disease-susceptible gene, no variants of HNF4alpha were strongly associated with disease. To identify other genetic variant related with disease, we designed an extensive two-stage association study (725 first and 1,093 second test samples). Although SNP1146 (rs220076) was selected as a landmark within the 19.31 Mb region, the magnitude of the nominal P value (P = 0.0023) was rather weak. Subsequently, a haplotype-based association study showed that two common haplotypes were weakly associated with disease. All of these tests resulted in non-significance after adjusting for Bonferroni's correction and the false discovery rate to control for the impact of multiple testing. Contrary to the initial expectations, we could not conclude that certain SNPs had a major effect on this promising locus within the framework presented here. As a way to extend our observations, we emphasize the importance of a subsequent association study including replication and/or meta-analysis in multiple populations.

Aged↗

PubMedDate not supplied

Modeling the effects of transforming growth factor-beta on extracellular matrix alignment in dermal wound repair.

We present a novel mathematical model for collagen deposition and alignment during dermal wound healing, focusing on the regulatory effects of transforming growth factor-beta (TGFbeta.) Our work extends a previously developed model which considers the interactions between fibroblasts and an extracellular matrix composed of collagen and a fibrin based blood clot, by allowing fibroblasts to orient the collagen matrix, and produce and degrade the extracellular matrix, while the matrix directs the fibroblasts and control their speed. Here we extend the model by allowing a time varying concentration of TGFbeta to alter the properties of the fibroblasts. Thus we are able to simulate experiments which alter the TGFbeta profile. Within this model framework we find that most of the known effects of TGFbeta, i.e., changes in cell motility, cell proliferation and collagen production, are of minor importance to matrix alignment and cannot explain the anti-scarring properties of TGFbeta. However, we find that by changing fibroblast reorientation rates, consistent with experimental evidence, the alignment of the regenerated tissue can be significantly altered. These data provide an explanation for the experimentally observed influence of TGFbeta on scarring.

Cell Movement↗