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PubMed2026

Automated segmentation and length measurement of metacarpal and phalangeal bones for hand radiograph evaluation.

Evaluating hand and wrist radiographs is essential in pediatric endocrinology and clinical genetics, particularly for the assessment of suspected skeletal anomalies. In this study, we present Auto-Bone-Caliper, an automated system for the segmentation and length measurement of metacarpal and phalangeal (M&P) bones, trained and evaluated on public datasets comprising both normal and dysmorphic cases. We first introduce InstanceSAM, a two-stage framework that detects and segments all 19 M&P bones in pediatric hand radiographs, achieving Dice scores of 98.7% for normal bones and 95.0% for dysmorphic bones. We further develop and evaluate three methods for bone-length estimation, identifying a k-means-based approach as the most accurate, with relative errors of 2.2% for normal bones and 4.5% for dysmorphic bones. Our automated pipeline, Auto-Bone-Caliper, integrates InstanceSAM with the k-means-based length-estimation method. To enable scale-independent downstream analyses, we derive relative bone-length measures from the automated measurements. Using these relative measures, we statistically compare measurements obtained using Auto-Bone-Caliper on an independent dataset with a healthy reference catalog of normal bone morphologies, observing a high level of agreement (Wasserstein-1 distance = 0.012). Finally, we demonstrate a potential clinical use case of Auto-Bone-Caliper by obtaining relative metacarpophalangeal pattern profiles for three genetic conditions, namely Turner syndrome, achondroplasia, and pseudohypoparathyroidism. Our results highlight the potential of the Auto-Bone-Caliper to streamline and standardize M&P length measurement, providing an objective and reproducible tool suitable for clinical application.

Humans↗

PubMed1985

An experimental analysis of chronic posttraumatic stress among adolescents.

The Fear Survey Schedule (FSS), State Trait Anxiety Inventory (STAI), and the Lebanese Fear Inventory (FLI, an endemic index of war fears) were administered to a sample of Lebanese junior high school students 27 days before the Israeli invasion of 1982. Six months after the disengagement of forces, the investigator located 16 subjects who had been in West Beirut throughout the siege and 46 subjects who had evacuated to safer environs. The inventories were readministered to the subjects according to a counterbalanced regimen and no significant differences were noted between the preinvasion scores of the evacuees and nonevacuees or between the postinvasion scores of the evacuees and nonevacuees. No significant differences were observed when the aggregate FSS and STAI estimates that were recorded before and after the invasion were compared. On the other hand, the aggregate LFI scores were significantly lower after the invasion. The results are discussed from within the social learning framework of fear acquisition.

Adolescent↗

PubMed1990

MCMI characteristics of DSM-III-R bulimics.

The literature on bulimia has suggested that bulimic women exhibit a number of pathological personality characteristics. However, the Millon Clinical Multiaxial Inventory (MCMI), an objective measure of personality functioning, has not previously been utilized to assess the personality characteristics of a bulimic population. The MCMI was administered to 37 female bulimics, 32 female general psychiatric outpatients, and 30 normal female controls in order to assess the relationship between bulimia and pathological personality traits. Bulimic women were found to score higher than the other groups on MCMI Scales 1 (Schizoid), 2 (Avoidant), and 3 (Dependent). They also scored lower than the other two groups on Scale 6 (Antisocial). Results are discussed within the framework of parallels between the MCMI profiles of bulimics and the existing literature on bulimics' personality characteristics.

Adolescent↗

PubMed1995

Psychological, interpersonal, and behavioral correlates of chronic self-destructiveness: an exploratory study.

In this study, we selected individuals high and low on a measure of chronic self-destructiveness--the tendency to perform behaviors that later reduce positive consequences and increase the probability of experiencing negative ones--and attempted to differentiate high and low scorers based on a set of hypothesized antecedent and concurrent psychological, interpersonal, and behavioral correlates. Men and women were equally represented in high- and low-scoring groups. High scorers reported experiencing more interpersonal exploitation, greater depression, lower self-esteem, more externalizing attitudes, and less control in relationships than low scorers. High-scoring individuals also engaged in more frequent acts of acute self-destructiveness, including attempted suicide. A significant age covariate effect emerged: high-scoring men and women were younger than low-scoring individuals. These findings underscore the importance of studying chronic self-destructiveness within a developmental framework and suggest that issues of safety and self-care may be particularly germane to educational and clinical interventions aimed at young adults.

Adolescent↗

PubMedDate not supplied

Differentiation of self and attachment among adult daughters.

The relation among the variables differentiation of self, attachment to mother, and two indicators of mental health were studied in 83 nonclinical adult daughters from a Southern community. An a priori causal model was proposed and tested. Bowen's (1976) theory of differentiation of self and Bowlby's (1969) attachment theory provided the conceptual framework. An operational Daughter Model was tested using the statistical program LISREL. Compared to mothers, daughters scored significantly lower on differentiation of self. Daughter's attachment to mother and daughter's level of self-differentiation were not causally related, supporting the view that differentiation of self and attachment are separate variables in personality development. The daughters' levels of differentiation of self were positively related to positive energy, thus supporting Bowen's theory. These findings affirm the value of attachment behaviors and differentiation of self in adulthood, challenge therapists' bias against attachment behaviors of women, and provide a focus for mental health promotion among women.

Adult↗

PubMed2005

Refinement of an automatic method for indexing medical literature--a preliminary study.

OBJECTIVES: to rank according to their significance MeSH terms automatically extracted from Internet sites in the framework of a French project, VUMeF, a contribution to the NLM' UMLS project. MATERIAL AND METHODS: scores are affected to key-words of a given document on the basis of the Semantic Network of the UMLS and frequencies of co-occurring major terms in the Medline literature. If N is the number of major terms of a document, and n is the number of major terms retrieved in the N first terms ranked in descending order according to their scores, the measure of the achievement of the method is n/N. RESULTS: a set of 1444 randomized documents have been extracted from Medline. For each document we computed the retrieved major terms among the first N terms with two methods: a statistical method using only frequencies given by co-occurrences, and our method that uses furthermore the UMLS semantic network. In 34% of cases corresponding to documents indexed by about 16 key-words, about 3 major terms among them, our method produces a better precision (7%) than the statistical method. DISCUSSION: the rough calculation of the proportion of retrieved major terms should be enhanced by the use of a probability law allowing to enlarge the list of terms to select taking into account both the number of major terms and the total number of key-words used to index each document.

Humans↗

PubMed2026

Age-associated epigenomic heterogeneity in papillary tumors of the pineal region: a multicenter YoungNOA investigation.

BACKGROUND: Papillary tumors of the pineal region (PTPR) are rare CNS neoplasms with adult and pediatric presentations, but whether age defines distinct molecular biology is unclear. METHODS: We assembled a multicenter retrospective cohort of 86 histologically confirmed PTPR with genome-wide DNA methylation data, comprising 62 adult and 24 pediatric tumors. Molecular subgroup, array platform, sex, and tumor purity were incorporated into multivariable models. Analyses included DNA methylation class assignment, differential methylation, copy-number variation (CNV), epigenetic mitotic-clock scores, methylation-based tumor microenvironment deconvolution, and descriptive survival evaluation. RESULTS: Adult and pediatric tumors mapped within the established PTPR-A and PTPR-B methylation framework rather than forming age-defined methylation classes. Pediatric tumors were enriched for PTPR-B (22 of 24 tumors [91.7%]) compared with adult tumors (39 of 62 [62.9%]). After adjustment for methylation-based subgroup as well as technical and biological covariates, 2,923 CpG probes were associated with age at a false discovery rate (FDR) threshold below 0.05, and 530 also met the prespecified effect-size threshold. Global methylation summaries were similar between age groups. CNV patterns were dominated by molecular subgroup; adjusted genomic CNV load was not independently associated with pediatric age. In contrast, epiTOC2 intrinsic rate score and the methylation signature represented by the first principal component (PC1) showed age-associated effects independent of molecular subgroup. Methylation-based deconvolution suggested a limited microenvironmental signal, with neutrophil fraction showing the most consistent adjusted association. CONCLUSIONS: Adult and pediatric PTPR share the established PTPR-A/PTPR-B framework. Pediatric tumors, particularly within PTPR-B, showed age-associated DNA methylation differences and higher epigenetic mitotic-clock (epiTOC2) scores in this retrospective cohort. These tissue-level associations do not establish clinical risk or treatment implications and require prospective clinical annotation and orthogonal validation.

Humans↗

PubMed2002

Emotional issues after kidney transplantation: a prospective psychotherapeutic study.

BACKGROUND: Negative emotional states are the single most influential factor in determining quality of life after a successful kidney transplant. We designed a prospective study using psychotherapeutic principles to understand and intervene in emotional issues in adult recipients of first cadaver kidney transplants. METHODS: Forty-nine recipients of first cadaver kidney transplants were subjected to 12 sessions (at weekly intervals) of psychotherapy within 3 months of receiving their transplant. The Beck Depression Inventory (BDI) was utilized as a measure of change in emotional state, pretherapy, at 3, 6, 9 and 12 months. A higher score on BDI was suggestive of psychological dysfunction. In the first instance, data was analysed within a quantitative framework, by virtue of the BDI. In the second instance, data was considered in terms of recurring themes described by patients during psychotherapy and was analysed qualitatively. In the third instance, both qualitative and quantitative data was considered in terms of individual patient's ability to achieve some feeling of having implemented some social, relational and vocational equilibrium into their everyday life. Recipients of live kidneys, paediatric transplants and patients who received more than one transplant were excluded, as emotional issues are different in this cohort of patients. All patients have completed 1 yr of follow up. None of the patients were on antidepressant medication before or after therapy. RESULTS: This is an ongoing study in which we are comparing individual vs. group therapy vs. controls (who receive no therapy). The total number of patients recruited will be 120 and the final report will be available in 2003-04. The results reported in this paper form the 49 patients in the individual arm of the study. All the patients in our study happened to be white people. There was significant improvement in the BDI scores following therapy. The mean score was 26.3 +/- 7.9 before and 20.5 +/- 8.8 after therapy (p = 0.001); the lowering of the scores remained sustained at 12 months. Multivariate analysis of age, gender, employment status, duration of dialysis (if in dialysis for more than 3 yrs) and psychotherapy given before transplantation did not affect the results of our study. For the qualitative aspect of the study, we grouped the emotional problems as expressed by the patients into three recurring themes (i) fear of rejection, (ii) feelings of paradoxical loss post-transplant despite having received a successful transplant and (iii) the psychological integration of the newly acquired kidney. CONCLUSIONS: Psychotherapeutic intervention was an effective means of addressing emotional problems in recipients of kidney transplants. The recurring themes as identified above provided a baseline for psychotherapeutic exploration and resolution of these issues. Successful resolution of these issues was associated with lower BDI scores and the redefinition of normality in daily living post-transplant.

Adult↗

PubMed2003

The roles of birth inputs and outputs in predicting health, behaviour and test scores in early childhood.

The goal of this study is to address directly the predictive value of birth inputs and outputs, particularly birth weight, for measures of early childhood development in a simultaneous equations modelling framework. Strikingly, birth outputs have virtually no structural/causal effects on early childhood developmental outcomes, and only maternal smoking and drinking during pregnancy have some effects on child height. Not surprisingly, family child-rearing environment has sizeable negative and positive effects on a behavioural problems index and a mathematics/reading test score, respectively, and a mildly surprising negative effect on child height. Despite little evidence of a structural/causal effect of birth weight on early childhood developmental outcomes, our results demonstrate that birth weight nonetheless has strong predictive effects on early childhood outcomes. Furthermore, these effects are largely invariant to whether family child-rearing environment is taken into account. Family child-rearing environment has both structural and predictive effects on early childhood outcomes, but they are largely orthogonal and in addition to the effects of birth weight.

Birth Weight↗

PubMed2002

The quantitative evaluation of functional neuroimaging experiments: the NPAIRS data analysis framework.

We introduce a data-analysis framework and performance metrics for evaluating and optimizing the interaction between activation tasks, experimental designs, and the methodological choices and tools for data acquisition, preprocessing, data analysis, and extraction of statistical parametric maps (SPMs). Our NPAIRS (nonparametric prediction, activation, influence, and reproducibility resampling) framework provides an alternative to simulations and ROC curves by using real PET and fMRI data sets to examine the relationship between prediction accuracy and the signal-to-noise ratios (SNRs) associated with reproducible SPMs. Using cross-validation resampling we plot training-test set predictions of the experimental design variables (e.g., brain-state labels) versus reproducibility SNR metrics for the associated SPMs. We demonstrate the utility of this framework across the wide range of performance metrics obtained from [(15)O]water PET studies of 12 age- and sex-matched data sets performing different motor tasks (8 subjects/set). For the 12 data sets we apply NPAIRS with both univariate and multivariate data-analysis approaches to: (1) demonstrate that this framework may be used to obtain reproducible SPMs from any data-analysis approach on a common Z-score scale (rSPM[Z]); (2) demonstrate that the histogram of a rSPM[Z] image may be modeled as the sum of a data-analysis-dependent noise distribution and a task-dependent, Gaussian signal distribution that scales monotonically with our reproducibility performance metric; (3) explore the relation between prediction and reproducibility performance metrics with an emphasis on bias-variance tradeoffs for flexible, multivariate models; and (4) measure the broad range of reproducibility SNRs and the significant influence of individual subjects. A companion paper describes learning curves for four of these 12 data sets, which describe an alternative mutual-information prediction metric and NPAIRS reproducibility as a function of training-set sizes from 2 to 18 subjects. We propose the NPAIRS framework as a validation tool for testing and optimizing methodological choices and tools in functional neuroimaging.

Adult↗

PubMed2006

An environmental decision framework applied to marine engine control technologies.

This paper develops a decision framework for considering emission control technologies on marine engines, informed by standard decision theory, with an open structure that may be adapted by operators with specific vessel and technology attributes different from those provided here. Attributes relate objectives important to choosing control technologies with specific alternatives that may meet several of the objectives differently. The transparent framework enables multiple stakeholders to understand how different subjective judgments and varying attribute properties may result in different technology choices. Standard scoring techniques ensure that attributes are not biased by subjective scoring and that weights are the primary quantitative input where subjective preferences are exercised. An expected value decision structure is adopted that considers probabilities (likelihood) that a given alternative can meet its claims; alternative decision criteria are discussed. Capital and annual costs are combined using a net present value approach. An iterative approach is advocated that allows for screening and disqualifying alternatives that do not meet minimum conditions for acceptance, such as engine warranty or U.S. Coast Guard requirements. This decision framework assists vessel operators in considering explicitly important attributes and in representing choices clearly to other stakeholders concerned about reducing air pollution from vessels. This general decision structure may also be applied similarly to other environmental controls in marine applications.

Air Pollutants↗

PubMed2003

T-cell epitopes within the complementarity-determining and framework regions of the tumor-derived immunoglobulin heavy chain in multiple myeloma.

The idiotypic structure of the monoclonal immunoglobulin (Ig) in multiple myeloma (MM) might be regarded as a tumor-specific antigen. The present study was designed to identify T-cell epitopes of the variable region of the Ig heavy chain (VH) in MM (n = 5) using bioinformatics and analyze the presence of naturally occurring T cells against idiotype-derived peptides. A large number of human-leukocyte-antigen (HLA)-binding (class I and II) peptides were identified. The frequency of predicted epitopes depended on the database used: 245 in bioinformatics and molecular analysis section (BIMAS) and 601 in SYFPEITHI. Most of the peptides displayed a binding half-life or score in the low or intermediate affinity range. The majority of the predicted peptides were complementarity-determining region (CDR)-rather than framework region (FR)-derived (52%-60% vs 40%-48%, respectively). Most of the predicted peptides were confined to the CDR2-FR3-CDR3 "geographic" region of the Ig-VH region (70%), and significantly fewer peptides were found within the flanking (FR1-CDR1-FR2 and FR4) regions (P <.01). There were 8- to 10-amino acid (aa) long peptides corresponding to the CDRs and fitting to the actual HLA-A/B haplotypes that spontaneously recognized, albeit with a low magnitude, type I T cells (interferon gamma), indicating an ongoing major histocompatibility complex (MHC) class I-restricted T-cell response. Most of those peptides had a low binding half-life (BIMAS) and a low/intermediate score (SYFPEITHI). Furthermore, 15- to 20-aa long CDR1-3-derived peptides also spontaneously recognized type I T cells, indicating the presence of MHC class II-restricted T cells as well. This study demonstrates that a large number of HLA-binding idiotypic peptides can be identified in patients with MM. Such peptides may spontaneously induce a type I MHC class I- as well as class II-restricted memory T-cell response.

Aged↗

PubMed1996

Matching using estimated propensity scores: relating theory to practice.

Matched sampling is a standard technique in the evaluation of treatments in observational studies. Matching on estimated propensity scores comprises an important class of procedures when there are numerous matching variables. Recent theoretical work (Rubin, D. B. and Thomas, N., 1992, The Annals of Statistics 20, 1079-1093) on affinely invariant matching methods with ellipsoidal distributions provides a general framework for evaluating the operating characteristics of such methods. Moreover, Rubin and Thomas (1992, Biometrika 79, 797-809) uses this framework to derive several analytic approximations under normality for the distribution of the first two moments of the matching variables in samples obtained by matching on estimated linear propensity scores. Here we provide a bridge between these theoretical approximations and actual practice. First, we complete and refine the nomal-based analytic approximations, thereby making it possible to apply these results to practice. Second, we perform Monte Carlo evaluations of the analytic results under normal and nonnormal ellipsoidal distributions, which confirm the accuracy of the analytic approximations, and demonstrate the predictable ways in which the approximations deviate from simulation results when normal assumptions are violated within the ellipsoidal family. Third, we apply the analytic approximations to real data with clearly nonellipsoidal distributions, and show that the theoretical expressions, although derived under artificial distributional conditions, produce useful guidance for practice. Our results delineate the wide range of settings in which matching on estimated linear propensity scores performs well, thereby providing useful information for the design of matching studies. When matching with a particular data set, our theoretical approximations provide benchmarks for expected performance under favorable conditions, thereby identifying matching variables requiring special treatment. After matching is complete and data analysis is at hand, our results provide the variances required to compute valid standard errors for common estimators.

Analysis of Variance↗

PubMed1996

Ego-identity status and narrative structure in retrospective accounts of parental career influence

In this paper, the relationship between identity status categories and the experience of parental influence on career development is examined. The life stories of 11 young adults regarding significant events through which their parents influenced them were classified by narrative structure based on Gergen and Gergen's macrostructure framework. The resulting narrative types were then assessed in terms of their relationship to each participant's score on the Extended Objective Measure of Ego-Identity Status. Both observational associations and Fisher's Exact Tests of Probabilities suggest a relationship. Results indicated that narratives of parental influence on career development may be reflective of one's stage of identity formation, that is, to one's progress in exploring and committing to career values and goals.

Journal Article↗

PubMed2004

The heterogeneity of schizophrenia in disease states.

PREVIOUS PRESENTATION: Some of the contents of this paper have been previously presented at the 16th Annual Meeting of the International Society for Technology Assessment in Health Care June 20, 2000 in the Hague, Netherlands and at the 21st Annual Meeting of the Society for Medical Decision Making as a poster on October 3, 1999 in Reno, NV. BACKGROUND: Studies of schizophrenia treatment often oversimplify the array of health outcomes among patients. Our objective was to derive a set of disease states for schizophrenia using the Positive and Negative Symptom Assessment Scale (PANSS) that captured the heterogeneity of symptom responses. METHODS: Using data from a 1-year clinical trial that collected PANSS scores and costs on schizophrenic patients (N=663), we conducted a k-means cluster analyses on PANSS scores for items in five factor domains. Results of the cluster analysis were compared with a conceptual framework of disease states developed by an expert panel. Final disease states were defined by combining our conceptual framework with the empirical results. We tested its utility by examining the influence of disease state on treatment costs and prognosis. RESULTS: Analyses led to an eight-state framework with varying levels of positive, negative, and cognitive impairment. The extent of hostile/aggressive symptoms and mood disorders correlated with severity of disease states. Direct treatment costs for schizophrenia vary significantly across disease states (F=27.47, df=7, p<0.0001), and disease state at baseline was among the most important predictors of treatment outcomes. CONCLUSION: The disease states we describe offer a useful paradigm for understanding the links between symptom profiles and outcomes.

Adolescent↗

PubMed2026

Comprehensive evaluation of ACMG/AMP-based variant classification tools.

MOTIVATION: The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines represent the gold standard for clinical variant interpretation. Despite the widespread adoption of ACMG/AMP guidelines, a comprehensive comparison of the software tools designed to implement them has been lacking. This represents a significant gap, as clinicians require evidence-based guidance on which tools to use in their practice. RESULTS: We benchmarked four ACMG/AMP-based tools (Franklin, InterVar, TAPES, Genebe) selected from 22 tools, and compared their performance with LIRICAL, a top-performing phenotype-driven tool, using 151 expert-curated datasets from Mendelian disorders. Selection criteria included free availability, VCF compatibility, operational reliability, and not being disease-specific. Our evaluation framework assessed top-N accuracy (N = 1, 5, 10, 20, 50), retention rates, precision, recall, F1 scores, and area under the curve (AUC). Statistical validation employed bootstrap confidence intervals (n = 1000) and Friedman tests. LIRICAL (68.21%) and Franklin (61.59%) demonstrated superior top-10 variant prioritization accuracy in Mendelian disorders, significantly outperforming other tools (P = .0000). Results demonstrate that tools with advanced phenotypic integration significantly outperform those relying primarily on genomic features. AVAILABILITY AND IMPLEMENTATION: All data and source code required to reproduce the findings of this study are openly available in the Code Ocean repository at https://doi.org/10.24433/CO.6562438.v1.

Software↗

PubMed1995

An empirically derived typology of families: I. Relationships with adult health.

In this report we describe the development and partial validation of an empirically derived typology of families based on 11 family variable composites derived from the California Family Health Project. Our goal was to use the typology to condense and integrate the findings from previous analyses of a large group of family variables and to account for differences in the self-reported health of adult family members. Exploratory and confirmatory cluster analyses conducted separately by gender classified 97% of the sample into four parallel types for husbands and wives: Balanced, Traditional, Disconnected, and Emotionally Strained. A 1-way MANOVA indicated that all 11 family variable composites significantly differentiated the four family types for husbands and wives. Significant differences among the four family types were also found on 10 demographic and other family variables, using ANOVA. Using MANOVA, we compared the four family types on 12 self-reported health and well-being variables by gender. Both husbands and wives from Balanced and Traditional families reported higher health scores than spouses from Disconnected and Emotionally Strained families, but no single profile of health scores was unique to a particular family type. The four family types provide an integrated and comprehensive framework for describing the family in health research.

Adolescent↗

PubMed2002

Incidence and correlates of posttrauma symptoms in children from backgrounds of domestic violence.

In recent years, evidence has emerged of the presence of posttrauma symptoms in children from backgrounds of domestic violence. The present study examined the incidence and correlates of posttrauma symptoms in 56 children of mothers who had been residents in women's shelters in Adelaide, South Australia. The most frequently endorsed symptoms among this sample of children were being troubled by distressing thoughts, conscious avoidance, hypervigilance, and sleep difficulties. Twenty percent of children met the criteria for a diagnosis of posttraumatic stress disorder (PTSD). Children meeting full PTSD criteria scored significantly higher on measures of anxiety, depression, and dissociation. Results support the use of a posttrauma framework for understanding the effects on children of living with domestic violence.

Adolescent↗