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PubMed1985

Preliminary experiences with WHO's ICIDH; a user's report.

A simple feasibility study of the ICIDH was conducted: 1148 patients were classified by their physician, the opinion of the physicians about the feasibility of the ICIDH was recorded, and finally 21 patients were classified twice to assess reliability. The results suggest that the I code is feasible for patients with locomotor disorders. The use of the D code presented several problems. It is very time-consuming and reliability of D code assignments seems to be low. The feasibility of the D code can probably be improved if the numerical framework is reshaped. The H code seems to allow for simple meaningful scorings, although we tended to use it as a substitute for the impractical D code, rather than as an indicator of handicap.

Persons with Disabilities↗

PubMed1999

[Internal statistical validation of a quality of life questionnaire].

In this paper we present two different statistical approaches to evaluate the psychometric properties of a quality of life questionnaire. First the study of the factorial structure is briefly exposed. Then we present the unidimensional classical models. They are based on the linear relationship between the observed score and the true score. The definition of the reliability was first addressed in this classical framework. Its estimation with the Cronbach alpha coefficient is one important feature of the evaluation of an instrument. More recently, modern response theory gives a better statistical framework to deal with unidimensional latent traits. These models describe the probability of positive answer to an item as a function of the actual value of the latent trait and an item parameter. We expose the principles of the Rasch model: hypothesis, estimations methods and fit tests. Finally practical applications to the validation process of a questionnaire are explored with data from a study of a short French version of the SIP questionnaire.

Evaluation Studies as Topic↗

PubMed2004

[Development of IgHV family specific nucleic acid vaccine against lymphoma by construction of fusion gene of immunoglobulin heavy chain variable region and cytokine].

OBJECTIVE: To construct the gene co-expression vector of immunoglobulin heavy chain variable region (IgHV) gene and GM-CSF or IL-2 as IgHV family specific nucleic acid vaccine to lymphoma, and study the immune response of the immunized mice against lymphoma. METHODS: Six clones with significantly different length in gene fragments were selected from a gene bank constructed from normal fetal umbilical cord blood. These gene fragments in the clones were sequenced. The sequences were translated into IgHV peptides. T cell epitopes in the IgHV were predicted by bioinformatics. Meanwhile 6 clones of IgHV1 constructed before were analyzed. The most typical clone of IgHV1 and IgHV3 containing most of the T cell epitopes were selected. The IgHV gene fragments whose complementary determining region 3 (CDR3) was cut out and composed mainly of framework region were cloned into eukaryotic expression vector. The gene fragments of framework region of IgHV linking with gene of GM-CSF or IL-2 were cloned into pcDNA3.0 to form fusion genes of IgHV (FR)-GM-CSF/IL-2. Then they were transected into COS cells, African green monkey renal cells, by Lipofectin and their transient expression product was detected by ELISA. Twenty male Balb/c mice were randomly divided into 5 groups of 4 mice to be injected with different vectors at the weeks 0, 2, and 4: with IgHV3 (FR)/pcDNA3.0, with IgHV3 (FR)-IL-2/pcDNA 3.0, with blank vector pcDNA3.0 as control, with IgHV1 (FR)/pcDNA3.0, and with IgHV1 (FR)-IL-2/pcDNA3.0. At the weeks 0, 2, 4, 6, and 8 serum was collected from the mice to undergo indirect immunofluorescence examination to detect the antibodies against Namalwa cells, lymphoma cells from Africa green monkey, and normal lymphocytes. ELISA was used to examine the serum interferon (IFN)-gamma. RESULTS: About 30 of T cell epitopes existed in each IgHV peptides predicted by bioinformatics. Among the bioinformatics prediction, about 90% of the T cell epitopes were in the framework region (FR) of IgHV, and the first 10% with higher prediction score were in FR. The CDR3 of two typical IgHV sequences were cut down and the remaining sequences, mainly composed of FR, were used to construct the IgHV (FR)/pcDNA3.0 expression vectors. The 3' end of IgHV1 (FR) and IgHV3 (FR) were linked to GM-CSF or IL-2 gene successfully. The expression of GM-CSF in the group transfected with IgHV (FR)-GM-CSF/pcDNA3.0 were 200 times higher than in the group transfected with control pcDNA3.0. The expression of IL-2 in the group transfected with IgHV (FR)-IL-2/pcDNA3.0 were 60 times higher than in the group transfected with control pcDNA3.0. The antibody against IgHV1 family lymphoma cell line Namalwa could be detected since the second week in the mice immunized with IgHV1 (FR)-IL-2/pcDNA3.0. The antibody could be detected since the fourth week in the mice immunized with IgHV1 (FR). The antibody against lymphocyte line of IgHV3 family could be detected since the second week in the mice immunized with IgHV3 (FR)-IL-2/pcDNA3.0. The antibody could be detected since the fourth week in the mice immunized with IgHV3 (FR)/pcDNA3.0. The contents of serum IFN-gamma the mice immunized with IgHV1 (FR)-IL-2/pcDNA3.0 and with IgHV3 (FR)-IL-2/pcDNA3.0 was significantly higher than those of the mice immunized with IgHV (FR)/pcDNA3.0 or pcDNA3.0 (all P < 0.01). CONCLUSION: The gene fragments of IgHV (FR) can be used to construct IgHV family specific nucleic acid vaccine that induces anti-lymphoma immune response in mice by muscle injection. The expressing vectors of IgHV (FR)-GM-CSF/IL-2 induces stronger immunoreaction.

Animals↗

PubMed1996

Health plan satisfaction and risk of disenrollment among social/HMO and fee-for-service recipients.

Health plan satisfaction among the elderly is affected by multiple individual and locational factors. We used a general behavioral framework of predisposing, enabling, and service use factors to produce adjusted satisfaction scores. These then were included in a logistic analysis to determine the effect of satisfaction on continued membership in social health maintenance organizations (S/HMOs) or continued participation in fee-for-service care. S/HMO members, after one year in the plan, generally reported satisfaction scores comparable to Medicare beneficiaries in fee-for-service care. Satisfaction with perceived physician quality and interpersonal relationships with the providers reduced the risk of disenrollment. Functional impairment reduced the likelihood of disenrollment, but this effect varied by community. Being impaired was protective in communities with established HMOs. In markets where HMOs were emerging or where intensive HMO competition was beginning, disability increased the likelihood of changing current coverage. S/HMO membership, after adjusting for the market area's general disenrollment propensities, had varying effects. Being a newly formed plan was not a consistent predictor of higher disenrollment rates.

Aged↗

PubMed2005

Communication strategies and interpersonal skills of instructors of esophageal speech: an observation study.

OBJECTIVE: In this article, the way that the Instructor of Esophageal Speech (IES) works is considered from an interactive-analytic perspective. METHODS: The observation project data were gathered during 6 months in 2004 at the training sessions of the Ginreikai-Asian Federation of Laryngectomees' Association using the Six Category Intervention Analysis framework (6CIA) by a trained communication specialist as an active-observer. RESULTS: Mean scores of each of the six categories and a series of percentage distributions were extracted from the usage-frequency data and interpreted together with the results of Chi-square analysis of usage-frequency units. We found the IES used more frequently authoritative categories and used less facilitative categories. Our results of the data analysis show that the 30 IES used more authoritative interventions and used more frequently the prescription and information giving than the confrontation or cathartic interventions. CONCLUSION: The results of the present study show that the 6CIA framework has its potential and value as an analytic tool to explore the IES' actual behavior in a specific therapy related context. PRACTICE IMPLICATIONS: We argue for the utility of the 6CIA as an analytic framework to investigate the interpersonal behavior of the IES in the Japanese cultural setting.

Aged↗

PubMed2026

Pan-Cancer Quantification of Driver Alteration Transmission Across Molecular Layers Reveals Limited Propagation to Protein Abundance.

Precision oncology relies primarily on DNA-level alterations for therapeutic decisions, but the extent to which driver mutations propagate to protein abundance has not been systematically evaluated. Here, I developed a regression-based transmission score (TS_R 2) to quantify driver alteration signal propagation across DNA, mRNA, and protein layers. Applying this framework to matched genomic, transcriptomic, proteomic, and phosphoproteomic data from 754 Clinical Proteomic Tumor Analysis Consortium (CPTAC) tumors across seven cancer types, I analyzed 86 driver gene-cancer type pairs, of which 83 were evaluable for the full two-layer transmission score. I employed covariate-adjusted regression for each molecular transition, assessing significance via permutation testing (n = 1000). Mixed-effects modeling then partitioned gene-intrinsic from cancer-type-dependent effects. Only 5 of 83 evaluable pairs (6%) demonstrated high transmission (TS_R 2 > 0.05), with receptor tyrosine kinases (EGFR, FGFR2) exemplifying this class. The primary bottleneck occurred at the mutation-mRNA transition, not mRNA-protein translation. Gene identity accounted for 49% of transmission efficiency variance, nearly double the contribution of cancer type (29%). Copy number alterations transmitted signals 13.8-fold more efficiently than point mutations, and truncating mutations showed higher transmission than missense variants (Wilcoxon p = 0.005). Microsatellite instability attenuated mRNA-protein transmission in UCEC and COAD. These findings demonstrate that many driver alterations show limited propagation to protein abundance. This challenges DNA-only interpretations in precision oncology and provides a framework for integrated functional driver prioritization.

Humans↗

PubMed2005

The Academic Medical Center Linear Disability Score (ALDS) item bank: item response theory analysis in a mixed patient population.

BACKGROUND: Currently, there is a lot of interest in the flexible framework offered by item banks for measuring patient relevant outcomes. However, there are few item banks, which have been developed to quantify functional status, as expressed by the ability to perform activities of daily life. This paper examines the measurement properties of the Academic Medical Center linear disability score item bank in a mixed population. METHODS: This paper uses item response theory to analyse data on 115 of 170 items from a total of 1002 respondents. These were: 551 (55%) residents of supported housing, residential care or nursing homes; 235 (23%) patients with chronic pain; 127 (13%) inpatients on a neurology ward following a stroke; and 89 (9%) patients suffering from Parkinson's disease. RESULTS: Of the 170 items, 115 were judged to be clinically relevant. Of these 115 items, 77 were retained in the item bank following the item response theory analysis. Of the 38 items that were excluded from the item bank, 24 had either been presented to fewer than 200 respondents or had fewer than 10% or more than 90% of responses in the category 'can carry out'. A further 11 items had different measurement properties for younger and older or for male and female respondents. Finally, 3 items were excluded because the item response theory model did not fit the data. CONCLUSION: The Academic Medical Center linear disability score item bank has promising measurement characteristics for the mixed patient population described in this paper. Further studies will be needed to examine the measurement properties of the item bank in other populations.

Academic Medical Centers↗

PubMed1985

Perioperative functions. Classification of knowledge and required skills.

The study results form a beginning framework from which values of resource appropriateness could be developed, which was the original intent of this study. An algorithm could be designed to score an individual's formal and informal training in specific skills as they relate to the O-Types identified. These results could be translated into resource appropriateness scores under each of the four factors. The results also provide a means for simplifying categories of the Operating Room Staffing Model and provide a beginning framework to assess resource appropriateness.

Clinical Competence↗

PubMed2000

Relations between hope and graduate students' coping strategies for studying and examination-taking.

In 1998, Onwuegbuzie reported a negative relationship between scores on hope and anxiety about statistics among graduate students who were enrolled in statistics classes. In 1999, Snyder posited that hope theory provides a useful framework for assessing students' coping strategies. In support of the utility of hope theory for identifying students with debilitating test-related anxieties, lower scores on the Pathways and Agency subscales which assess hope were related to 87 graduate students' problematic coping strategies for studying and taking statistics examinations. After a brief review of other recent data linking hope to academic performance at both public school and college levels, further research seems appropriate.

Achievement↗

PubMed2026

Primer design through submodular function estimation.

MOTIVATION: Multiplex PCR-based enrichment is widely used in viral genome sequencing and pathogen surveillance. However, designing large sets of primers that maximize genome coverage while minimizing primer-primer interactions remains a major computational challenge. Existing methods such as SADDLE and Olivar use heuristics to optimize a Badness score for primer dimers but lack theoretical guarantees on solution quality. RESULTS: We introduce PRISM, a new framework that formulates multiplex primer design as a constrained submodular maximization problem. Our method defines an objective that balances genome coverage and dimer risk, and applies a local search algorithm with a constant-factor approximation guarantee. Evaluations on viral genome datasets demonstrate that PRISM consistently achieves lower Badness scores compared to PrimalScheme, Olivar, and primerJinn. These results highlight the scalability and theoretical rigor of submodular optimization in primer design. AVAILABILITY: PRISM is open-source and available at https://github.com/yhhan19/PRISM-new. The experimental data, scripts, and results used in this paper are archived on Figshare at https://doi.org/10.6084/m9.figshare.32806499.

Algorithms↗

PubMed2025

A comprehensive evaluation of candidate genetic polymorphisms in a large histologically characterized MASLD cohort using a novel framework.

BACKGROUND: There is a substantial heritable component to metabolic dysfunction-associated steatotic liver disease (MASLD), and several genetic variants that promote MASLD development or associate with its severity have been reported. These associations vary in terms of their effect size and degree of replication. METHODS: We developed a framework to classify previously identified MASLD genetic polymorphisms into 4 tiers based on effect size and extent of replication in the literature. We tested the association between "tier 1" single-nucleotide polymorphisms (OR ≥1.5, replicated in >2 independent studies) and biopsy measures of MASLD severity in a large, well-characterized histologic cohort of MASLD patients (n=3094). RESULTS: Across 19 "tier 1" variants reflecting 11 genetic loci, only those in the PNPLA3-SAMM50-PARVB locus showed significant associations with biopsy-proven fibrosis severity and NAFLD activity score; the highest risk was for the rs738409 p.I148M variant in PNPLA3. A genetic risk score based on "tier 1" variants, as well as a previously developed genetic risk score based on variants in PNPLA3, TM6SF2, and HSD17B13, were both associated with fibrosis and NAFLD activity score, but these results were driven entirely by PNPLA3 rs738409. CONCLUSIONS: Our study provides a framework to prioritize evaluation of genetic polymorphisms for future replication efforts and demonstrates that in a large case-only cohort, histologic severity of MASLD is only robustly associated with the presence of variation in PNPLA3 among known candidate genes. These findings may have implications for patient risk stratification based on the presence of PNPLA3 rs738409.

Humans↗

PubMed2004

Analysis of a staging assessment system for prediction of surgical interval in recurrent respiratory papillomatosis.

INTRODUCTION: A staging system for assessment of recurrent respiratory papillomatosis (RRP) has been in use over the last 3 years for 17 patients at our children's hospital. OBJECTIVE: To evaluate a staging system for assessment of RRP on the basis of the predictive value on the surgical interval of: anatomic staging system score, urgency of intervention, voice quality, and stridor. To assess effect on surgical interval of the age of patient at time of surgery and use of adjuvant therapy. To develop a model based on the staging criteria to predict need for adjuvant therapy. DESIGN: Validation cohort. SETTING: Academic children's hospital. RESULTS: Estimated time to surgery decreased by "x days": "independent variable" "(95% CI)" as follows. Four days: each 1 point in total anatomical score (0.2, 8); 120 days: total anatomical score >20 (37,203); 143 days: urgent versus scheduled surgery (42, 243); 100 days: aphonic versus normal voice (-211, 343); 31 days: abnormal versus normal voice (-281, 343); 125 days: stridor at rest versus no stridor (-31, 281); 109 days: stridor with activity versus no stridor (19, 198); 26 days: each 1 year decrease in age (22, 30). Adjuvant therapy delays next surgery by 32 days (-4, 69) and average scores decreased while on adjuvant therapy. CONCLUSIONS: Elements of our proposed staging system are effective in prediction of surgical interval with statistical significance achieved for total anatomical scores, urgency of intervention and stridor with activity versus no stridor. This study is pilot in nature and provides a framework upon which future studies can be based. The analysis of a larger, more severity diverse population could yield results which lead to a model capable of effectively predicting future surgical interval based on a weighted prediction score calculated from age, comorbidities, anatomic staging score, and clinical staging score.

Child↗

PubMed2005

Estimating cancer survival and clinical outcome based on genetic tumor progression scores.

MOTIVATION: In cancer research, prediction of time to death or relapse is important for a meaningful tumor classification and selecting appropriate therapies. Survival prognosis is typically based on clinical and histological parameters. There is increasing interest in identifying genetic markers that better capture the status of a tumor in order to improve on existing predictions. The accumulation of genetic alterations during tumor progression can be used for the assessment of the genetic status of the tumor. For modeling dependences between the genetic events, evolutionary tree models have been applied. RESULTS: Mixture models of oncogenetic trees provide a probabilistic framework for the estimation of typical pathogenetic routes. From these models we derive a genetic progression score (GPS) that estimates the genetic status of a tumor. GPS is calculated for glioblastoma patients from loss of heterozygosity measurements and for prostate cancer patients from comparative genomic hybridization measurements. Cox proportional hazard models are then fitted to observed survival times of glioblastoma patients and to times until PSA relapse following radical prostatectomy of prostate cancer patients. It turns out that the genetically defined GPS is predictive even after adjustment for classical clinical markers and thus can be considered a medically relevant prognostic factor. AVAILABILITY: Mtreemix, a software package for estimating tree mixture models, is freely available for non-commercial users at http://mtreemix.bioinf.mpi-sb.mpg.de. The raw cancer datasets and R code for the analysis with Cox models are available upon request from the corresponding author.

Biomarkers, Tumor↗

PubMed1976

A personality needs profile of some outstanding female athletes.

The Edwards Personal Preference Schedule (EPPS) was administered to 24 outstanding U.S. female athletes who were competitors in the 1972 Olympic Games. The resulting EPPS group profile strongly points to the essential normality of these competitors. Within the framework of a well-balanced needs profile, the two highest group needs scores were in the realm of achievement and autonomy. Thus, these prominent athletes demonstrated the kind of personality profile anticipated from a group of women with seemingly high needs for achievement and self-accomplishment. The EPPS, therefore, appears to be a promising personality measure to assess achievement motivation.

Achievement↗

PubMed2002

A unified framework for transmission-disequilibrium test analysis of discrete and continuous traits.

This paper presents a unified framework for transmission-disequilibrium tests for discrete and continuous traits. A conditional score test is derived that maximizes power to detect small effects for any exponential family distribution, which includes binary and normal distributions, and distributions that are skewed or have non-normal kurtosis. The specific distributional form need not be specified, and the method applies to sibships of arbitrary size. Formulas for the distribution of the test statistic are given for models including complex genetic effects (additive, dominant, and recessive gene action), covariates, multiple gene models including gene-gene interactions or heterogeneity, and gene-environment interactions. We develop refinements of our method for trait-based sampling designs and multiple siblings that can have dramatic effects on power.

Alleles↗

PubMed2005

Tests for the presence of two linked disease susceptibility genes.

For diseases with complex genetic etiology, more than one susceptibility gene may exist in a single chromosomal region. Under explicit assumptions about the number of disease genes in a region, generalized estimating equations (GEE) can be used to estimate the putative disease gene location(s) and expected identical-by-descent allele sharing in affected sib pairs at these gene(s). Extending the work of Liang et al. developed a method for simultaneous localization of two susceptibility genes in one region using marker identical-by-descent (IBD) sharing in affected sib pairs. Here we propose methods to evaluate the evidence for two versus one disease loci in a region in a quasi-likelihood/GEE framework. We describe tests based on approximate quasi-likelihood ratio and generalized score test statistics. Because of difficulties in determining the asymptotic null distributions of these statistics and the small sample sizes that can be available in genetic studies, we recommend that significance be evaluated empirically. Application of the described methods to data from a genome scan for type 1 diabetes yielded some evidence for two linked disease genes on chromosome 6, approximately 20 cM apart (p value for an approximate quasi-likelihood ratio test=0.049). In simulation studies, we found that both tests performed quite well for a range of scenarios. Power to detect the presence of two linked disease genes increased with the number of affected sib pairs, greater IBD sharing at the two loci, and larger distance between the two loci.

Diabetes Mellitus, Type 1↗

PubMed2006

A self-report version of the Yale-Brown Obsessive-Compulsive Scale Symptom Checklist: psychometric properties of factor-based scales in three samples.

Current research in Obsessive-Compulsive Disorder (OCD) recognizes substantial symptom heterogeneity and emphasizes dimensional assessment of core domains. This study administered a self-report version of the Yale-Brown Obsessive-Compulsive Scale Symptom Checklist to OCD patients (n=53), non-OCD psychiatric patients (n=96), and students (n=419). Factor analyses of category- versus item-level data produced different solutions (4 or 5 vs. 3 factors, respectively), but support a multidimensional framework for OCD symptoms. For between-groups analyses, the two patient groups scored significantly higher than students on nearly all dimensions. However, OCD and non-OCD patients differed significantly only on Symmetry/Ordering symptoms. These findings provide novel data concerning this instrument and suggest that most of its scales may not distinguish OCD patients clearly when administered in this manner. We provide recommendations for improving subsequent self-report versions but caution users not to over-extend its intended use.

Adolescent↗

PubMed2006

Respiratory muscle training in persons with spinal cord injury: a systematic review.

The purpose of this paper was to review the effectiveness of respiratory muscle training (RMT) on respiratory muscle strength and endurance, pulmonary function, quality of life, respiratory complications and exercise performance in persons with spinal cord injury. A MEDLINE (National Library of Medicine, Bethesda, MD, USA) database was used for selection of the literature (from 1980 to November 2004), and relevant references from peer-reviewed articles were retrieved as well. Studies investigating the effects of RMT (i.e. resistive breathing weight lifting or normocapnic hyperpnea) in persons with spinal cord injury were selected. Two independent reviewers investigated controlled studies for methodological quality by using a modification of the framework for methodological quality. Methodological quality ranged between 15 and 29 (maximal feasible score=40). Twenty-three papers were retrieved and six controlled trials were kept for further analysis. A meta-analysis and calculation of effect-size of each individual study and weighted summary effect-size was intended. However, unreported data and heterogeneity in outcome variables did not allow performing a meta-analysis. From the systematic review it is concluded that RMT tended to improve expiratory muscle strength, vital capacity and residual volume. Insufficient data was available to make conclusions concerning the effects on inspiratory muscle strength, respiratory muscle endurance, quality of life, exercise performance and respiratory complications.

Exercise Therapy↗