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PubMed2000

Evaluation of linkage of markers on chromosome 6p with schizophrenia in Taiwanese families.

Previous studies have indicated possible linkage of schizophrenia with chromosome 6p21-24. In an attempt to replicate these findings, we studied the linkage of schizophrenia with nine markers on chromosome 6p21-24 in 39 Taiwanese schizophrenic nuclear families with at least two affected siblings. Two diagnostic models (narrow: Diagnostic and Statistical Manual of Mental Disorders-IV schizophrenia only; and broad: including schizophrenia, schizoaffective, and other nonaffective psychotic disorders) were used to define the disease phenotypes. With the broad and narrow diagnostic models, the marker D6S296 produced maximum two-point lod scores of 1.46 (straight theta = 0.2) and 1.35 (straight theta = 0. 2), respectively, in the recessive inheritance model. Assuming locus heterogeneity, a multipoint lod score of 0.85 was obtained between markers D6S296 and D6S277 under the narrow/recessive model. Maximum nonparametric lod scores of 1.25 ( p= 0.09) and 1.36 (p = 0.08) were observed, but still not statistically significant, at D6S296 in the narrow and broad diagnostic models, respectively. Both two-point analysis of the dominant model (lod score 0.85) and nonparametric analysis (lod score 1.25) showed a mild peak lod score appeared at marker D6S 285 as well. The results add some support to the suggestive linkage of schizophrenia with markers in the regions of chromosome 6p22 and 6p24 in an ethnically distinct Taiwanese sample. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:74-78, 2000.

Adolescent↗
PubMed1999

Parent-of-origin effect in panic disorder.

Parent-of-origin effect was examined in a series of 64 pedigrees with panic disorder (PD) under both the narrow and broad diagnostic models. The narrow diagnostic model defined the affected phenotype to include only the "definite" and "probable" forms of PD, whereas the broad diagnostic model included the entire PD symptomatology. The pattern of maternal vs. paternal transmission of disease was analyzed through a number of comparisons. These comparisons were performed first on all pedigrees and then on a subset of "pure" pedigrees including only strictly maternal transmission or strictly paternal transmission of PD. There were no significant differences in the proportion of offspring born to transmitting mothers vs. transmitting fathers under either diagnostic model or pedigree set. When the difference in the sex ratio among affected offspring from both transmission types was considered, only the "pure" pedigree sample under the broad diagnostic model yielded nominally (i.e., not corrected for multiple tests) significant results (P < .05). Also, the comparisons of cumulative lifetime risk for PD between offspring of transmitting mothers and fathers gave some nominally significant results; when affected and unaffected offspring were considered, significant results were observed under the narrow and broad diagnostic models, P < .0005 and P < .05, respectively. These findings must be considered provisional until confirmed by further study.

Adolescent↗
PubMed2003

Cost-effectiveness in diagnosis of patients with long-standing fever.

INTRODUCTION: It is difficult to make an adequate diagnosis regarding patients with fever of unknown origin (FUO). The cases require time-consuming and costly investigations. Our study features a cost-effectiveness analysis and the development of an alternative diagnostic model. The diagnostic programmes include: serological and microbiological tests, blood laboratory test, radiological, histopathological and radionuclide tests. PATIENTS AND METHODS: For 100 hospitalized patients with fever (group A: > 38.0 degrees C for as long as 7 days; group B: > 38.3 degrees C for 3 weeks), the various results of clinical investigations were obtained, and the costs of a three-step programme for the four main diagnoses, including the diagnostic value, were evaluated. RESULTS: There was no significant difference between male and female patients, or patients < 35 vs. > 35, and < 50 vs. > 50 years. Infections were found in 46%, neoplasma and collagen-vascular disease/autoimmune disorders in 10% each, and other diseases in 20% of all patients. The third diagnostic programme was the most expensive in all four disease categories. In total, 30, 34, and 22 patients were diagnosed by the three diagnostic steps, respectively. In 14 patients no diagnosis was found. The overall cost of the three diagnostic programmes was 359, 1,996 and 3,496 EUR, respectively. CONCLUSIONS: In the majority of the cases (64%), the first and second diagnostic programmes result in a diagnosis. The investigations of the third diagnostic programme are more accurate, more expensive, and result in a diagnosis, mainly in patients of group B. Our proposed new diagnostic model would save 134, 746, and 558 EUR for each diagnostic step, respectively.

Adolescent↗
PubMedDate not supplied

[Diagnostic radiology in the technological era. Comparison between two models].

Diagnostic Radiology is a medical specialty that has played a dynamic role in the medical arena during the last three decades of the XX century. As a part of the evolution of this specialty, medicine and society at large have received diverse benefits in areas of diagnosis and for the decision making process in the clinical practice. Modern radiology has provided numerous advances and refined tools that give more convenience speed and precise diagnosis in the current medical practice. At the present time, these technologies are part of the standard of care in the US and other industrialized countries, representing the ultimate desire or goal to reach for other healthcare systems in developing countries as well. Unfortunately, many of the clinical skills in the health care personal have not evolved at the same pace of those modern technologies, conditioning a reduction in the performance of sensitive areas to the patient's interest, such as the caring, compassion and quality of health care. It is unquestionable the value and benefits that technologies such as CAT and MRI scans have brought to the standard practice in the recent time. Nonetheless, it is desirable to maintain the highest possible level of clinical skills despite the extended use of modern technologies by the health personnel, without compromising the quality of care. Yet is pending the future role and rational use for those technologies in radiology, especially in times when delivering good, reliable health care have become a priority for many health institutions worldwide. This approach would be the ultimate goal to reach in times and circumstances where health for all is the highest precious value to obtain at global level.

Humans↗
PubMed1998

A model for diagnostics in neurological rehabilitation: an answer to 'the biopsychosocial disease consequence model in rehabilitation' of Talo et al.

In 1996, Talo et al. published their comprehensive version of a bio-psycho-social disease consequence model in rehabilitation, which deals with 'model development in the Finnish "Work hardening" programme for chronic pain'. The explanations given here serve to check the theoretical background of this model for certain basic assumptions as well as for the possibility to transfer it to other fields of rehabilitation. This is done from the viewpoint of neurological rehabilitation. The starting point is the consideration that the conceptions underlying the ICIDH are not suitable to serve as a mainstay of a model for diagnostics in rehabilitation because they do not reflect essential characteristics of the diagnostic process which is the basis for intervention. A model for diagnostics in neurological rehabilitation is contrasted to that of Talo et al. Regarding the theoretical background this model has different characteristics compared to that developed by the Finnish authors. It is guided by the process of gaining cognition in two different ways: (1) On the assumption that the diagnostic process reflects the same principles basically valid for theory-development in science, the basis of the model are conceptions for description and explanation of a patient's current condition. (2) Due to a holistic idea of disablement these conceptions are related to the individual's bio-psychosocial existence. As it relates to the model developed by Talo et al. this one represents a type of 'meta-level'. With regard to the long-term objective the main interest associated with the alternative model refers to its implications concerning the conception of the rehabilitation process as a prerequisite for internal quality management.

Chronic Disease↗
PubMed1976

A model interdisciplinary diagnostic and treatment nursery.

A model interdisciplinary diagnostic and treatment nursery program for developmentally disabled children is objectively described to enable documentation of effectiveness and replication. The major components of the program were the parent-professional partnership and the objective specification by the interdisciplinary team of problems, treatment plan, and treatment methods for each youngster. The concept of efficiency index is used to document and compare program effectiveness for four treatment cases, one of which is presented in detail. Reasons for program effectiveness and potential problem areas are discussed.

Child↗
PubMed1981

Nine-cell diagnostic decision matrix. A model of the diagnostic process; a framework for evaluating diagnostic protocols.

A nine-cell diagnostic decision matrix is described. This matrix can be viewed dynamically as a model of the diagnostic process. The matrix provides for display of equivocal test results and test results of patients who have ill-defined or incompletely determined disease. The matrix represents an improved model for evaluating diagnostic test protocols. Diagnostic test characteristics related to this model are described. Potential advantages and uses of the model are discussed; among them are possibilities for development of improved diagnostic protocols and improved definitions of disease.

Decision Making↗
PubMed2006

Prediction of obstructive sleep apnea in patients presenting to a tertiary care center.

The objective of this prospective observational clinical study is to derive and validate a diagnostic model for prediction of obstructive sleep apnea (OSA) in subjects presenting with non-sleep-related complaints in a tertiary care center in north India. We included 102 subjects (group I, range 31-70 years) presenting to the hospital with non-sleep-related complaints. None of the subjects had any significant comorbid illness such as respiratory or congestive cardiac failure. All subjects underwent detailed evaluation including polysomnography (PSG). Various parameters were compared between the cases (apnea-hypopnea index, AHI > or =15/h) and controls (AHI <15/h). Using multivariate logistic regression analysis, a diagnostic model for prediction of OSA was derived. Subsequently, using similar selection criteria, 104 subjects (group II, range 32-68 years) were included for validation of the newly derived diagnostic model. Body mass index [BMI; OR (95% CI), 1.14(1.1-1.2)], male gender 5.0(1.4-27.1), relative-reported snoring index (SI) 2.8(1.7-5.0), and choking index (ChI) 8.1(1.4-46.5) were significant, independent predictors of OSA. Diagnostic model was computed as score = [1.61 x (gender)] + [1.01 x (S1)] + [2.09 x (ChI)] + [0.1 x (BMI)] where, gender: 0 = female, 1 = male and SI, ChI, BMI are actual values. The diagnostic model had an area under the receiver operator characteristics curve of 89.6%. A cutoff of 4.3 for the score was associated with sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of 91.3, 68.5, 70.5, and 92.3%, respectively. Misclassification rate with the application of the diagnostic model on group II subjects was 13.5% (14/104). Sensitivity, specificity, PPV, and NPV of the model for predicting OSA in this group were 82, 90.7, 89.1, and 84.5%, respectively. BMI, male gender, SI, and ChI are independent predictors of OSA. Diagnostic model derived from these parameters is useful for predicting presence of OSA and screening subjects for PSG.

Adult↗
PubMed1999

A process model of diagnostic reasoning in medicine.

The paper presents a model-based approach to diagnostic reasoning in medicine. A process model is defined on the levels of static elements, dynamic elements and reasoning control. Static elements, facts, hypotheses and different types of disease knowledge, are identified and variations relevant for hypotheses generation are described. Dynamic elements correspond to actions, which in turn modify static elements, but are also controlled and started by the expressions of the static elements. Hypothesis generation starts with the assessment of a given set of facts. According to their priorities, facts are used for the construction of a diagnostic differential: new hypotheses are considered, existing hypothesis refined or excluded. The purpose of hypotheses generation is to establish a complete diagnostic differential with disjunctive explanations which explain a given set of facts. The presented model could serve as a basis for an implementation in a model-based and process-oriented decision-support system.

Decision Making, Computer-Assisted↗
PubMed2026

Urinary Small Extracellular Vesicle DNA as a Biomarker for the Non-Invasive Diagnosis of Bladder Cancer.

Existing diagnostic technologies for bladder cancer (BC) suffer from low sensitivity, low specificity, or a lack of validation. Therefore, validated, non-invasive diagnostic biomarkers with high sensitivity and specificity for early detection of BC are needed to complement and improve upon the limitations of existing diagnostic methods. We used low-pass whole genome sequencing (LP-WGS) technology to detect copy number variations (CNVs) in small extracellular vesicle (sEV) DNA isolated from urine samples of patients. Based on these results, we constructed and validated a diagnostic model to differentiate between benign and malignant bladder lesions. We conducted a receiver operating characteristic analysis and calculated the area under the curve (AUC) to evaluate the performance of the diagnostic model. The urine sEV-DNA LP-WGS data revealed CNV differences between benign and malignant samples. The diagnostic model achieved an AUC of 0.953, a sensitivity of 86.7%, and a specificity of 100% in the training cohort and an AUC of 0.985, a sensitivity of 90%, and a specificity of 100% in the validation cohort. Even at the lowest coverage depth of 0.01X, the performance of the diagnostic model remained relatively robust. Notably, the performance of this diagnostic model surpassed that of the biomarker neuron-specific enolase (sensitivity: 85.7% vs. 64.3%; specificity: 100% vs. 87.5%) and urinary cytology (sensitivity: 100% vs. 66.7%; specificity: 100% vs. 94.1%). Our study demonstrates that urine sEV-DNA exhibits high discriminatory power in distinguishing between benign and malignant bladder lesions, making it a promising tool for auxiliary diagnosis of BC.

Humans↗
PubMed2006

Mathematical modeling improves computed tomography diagnosis of traumatic aortic injury.

RATIONALE AND OBJECTIVES: Acute traumatic aorta injuries (ATAIs) following blunt thoracic trauma require rapid and accurate diagnosis for institution of lifesaving treatment. The use of computed tomography (CT) in the diagnosis of such injuries continues to improve and has the potential to become the diagnostic modality of choice in many trauma centers. A standardized diagnostic model may contribute to improvements in radiologist interpretation of CT for ATAIs. MATERIALS AND METHODS: The following diagnostic criteria were used to develop a diagnostic model for ATAIs: 11 areas of potential hematoma formation were identified in the mediastinum. Maximum short- and long-axis cross-sectional diameters of the aorta were measured. Qualitative morphologic information (contour change, intimal flap) was recorded. Smoothness of the aorta wall was assessed. These characteristics were quantified and analyzed for statistical significance, allowing for the development of an injury assessment model. RESULTS: The diagnostic model was used to score 69 blunt thoracic trauma patient cases. Average weighted kappa was 0.74, showing strong agreement among two observers and reproducibility of the model. The model improved injury assessment by classifying equivocal cases as either positive or negative. The ROC curve calculated from the original radiologist interpretation contained 86.1% area under the curve, while the curve for the new model contained 97.5%. The likelihood ratio increased from 30.06 to 48.67. The degree to which the new measure improved prediction over the original radiologist reading was tested using a nested model and yielded a reliable increment in model fit (chi2 analysis: Deltachi2(3) = 20.929, P < or = .0001). Finally, beta weights calculated from each variable were used to create a quantitative best-fit diagnostic model for future use. CONCLUSION: We have developed a diagnostic tool that may help radiologists better evaluate CT for ATAIs.

Adult↗
PubMed1996

Penetrance of schizophrenia-related disorders in multiplex families after correction for ascertainment.

Penetrance of schizophrenia and related disorders was calculated in 27 multiplex pedigrees ascertained by a consistent set of screening and selection criteria. The rationale for the study was that single major locus linkage models are frequently used on a pragmatic basis to analyze data for schizophrenia which is most likely to have a polygenic mechanism. Penetrance estimates assuming Mendelian inheritance represent maximum values and thus can provide guidance for construction of appropriate linkage models. Four diagnostic models were considered: narrow (schizophrenia and chronic schizoaffective disorder), intermediate (including other non-affective psychoses), broad (including schizotypal and paranoid personality disorders), and broad + suspected (including suspected schizophrenia spectrum disorders). Penetrance was calculated in the youngest affected adult sibship, under both dominant and recessive inheritance assumptions, either without correction, or with a correction that excluded individuals necessary to meet pedigree selection criteria. Without correction, penetrance values ranged from 0.70 to 0.90 assuming dominant and 1.0 to > 1.0 assuming recessive inheritance. After correction, the ranges were 0.30-0.51 for dominant and 0.47-0.59 for recessive models. The corrected values are likely to be overestimates given that the penetrance of any one locus in a multilocus model must be lower. It is suggested that lod score analyses of schizophrenia should attempt to derive information primarily from affected diagnoses, because information derived from unaffecteds under high penetrance models is likely to be spurious.

Adult↗
PubMedDate not supplied

A signal processing model of diagnostic x-ray scatter.

A model of scatter is developed from a signal processing approach. The scattering process is viewed as a nonlinear filter (NLF), which transforms a two-dimensional signal representing phantom thickness into a two-dimensional signal of scattered radiation. The NLF point spread function (PSF) is derived from a single scattering model, using the principles of Compton scattering and x-ray attenuation. The PSF is characterized by three approximations: a constant geometric shape, a volume that depends on the phantom thickness, and a width that depends on the phantom-to-detector distance. This leads to a closed form expression for the scatter-to-primary ratio as a function of phantom thickness, field size, photon energy, source-to-phantom distance, and phantom-to-detector distance. The NLF model is compared with previously reported measurements using constant thickness phantoms, and discrepancies are discussed. The good agreement found between the NLF model and measured data shows that the functional dependence of scatter on the above parameters, previously only explained in terms of empirical models or Monte Carlo simulations, can be incorporated into a signal processing model.

Humans↗
PubMed2006

Data mining approach to model the diagnostic service management.

Korea has National Health Insurance Program operated by the government-owned National Health Insurance Corporation, and diagnostic services are provided every two year for the insured and their family members. Developing a customer relationship management (CRM) system using data mining technology would be useful to improve the performance of diagnostic service programs. Under these circumstances, this study developed a model for diagnostic service management taking into account the characteristics of subjects using a data mining approach. This study could be further used to develop an automated CRM system contributing to the increase in the rate of receiving diagnostic services.

Databases, Factual↗
PubMed2005

Purposes and models of diagnostic systems.

Emerging efforts at developing new international classification and diagnostic systems require a careful and fresh review and conceptualization of the meanings, purposes and models of diagnostic systems. Such meanings include both an informative statement as well as a process or activity. The purposes of diagnostic systems can be clustered under understanding of a case and planning effective clinical care and public health interventions. The models designed to give form to a diagnostic system must pay attention to the informational domains to be covered (from illness to positive health), the descriptive or measurement tools to be utilized (categories, dimensions, narratives), the evaluators to be engaged (clinicians, patient, family) and the structural schemas (single- or multilevel) required to accommodate meanings and purposes of interest.

Diagnosis, Differential↗
PubMed1992

Cooperative image workstation based on explicit models of diagnostic information requirements.

A medical image workstation designed to act as a cooperative dialogue partner in diagnostic radiology has been conceived, and a prototype has been made. The system can automatically select relevant information (eg, from current and previous examinations) and generate a meaningful and appropriate image arrangement on the display screen. For a number of routinely performed tasks in radiology, the users' interaction may be as simple as switching from one patient to the next. This is shown to considerably simplify and speed up radiological image access and presentation, saving the user time and effort. The cooperative system response is based on explicit (formalized and computer-accessible) models of diagnostic information requirements. These models are context dependent and take into account that diagnostic information needs vary with radiological work procedures, workstation users, and patient cases. Initial models have been acquired from expert radiologists in two European hospitals and were integrated in a cooperative workstation prototype. For the representation of models, rule-based and object-oriented techniques were applied. The rule base was designed with a distinct modular structure, separating between rule sets for general, task-dependent, and user-dependent information requirements. The installed rule-based mechanism also offers a solution for the automatic prefetching of images to avoid transmission delays in the course of diagnostic work sessions. The first part of the report reviews the objectives for the design of cooperative workstation user interfaces and explains the benefits from the users' point of view. In the second part, the acquisition, structuring, formalization, and representation of context-dependent information requirement models is described. The rule-based model is explained using examples. A layered workstation architecture consisting of model, object, and real-time layers is presented. Difficulties in the implementation of cooperative workstations are discussed that point to future research topics and standardization efforts.

Diagnostic Imaging↗
PubMed2026

Exploring Endoplasmic Reticulum Stress-Related Genes in Cartilage Defects: Implications for Diagnosis and Therapy.

INTRODUCTION: Cartilage defects (CDs) are orthopedic conditions with limited regenerative potential. This study aimed to identify endoplasmic reticulum (ER) stress-related biomarkers and construct a diagnostic model to enhance the early detection of CD. METHODS: This study analyzed the transcriptomic dataset GSE129147 to identify ER stressrelated differentially expressed genes (ERSRDEGs) between CD and control tissues using the limma package (version 3.58.1). Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) analyses were employed for functional enrichment. Immune infiltration was assessed using cell-type identification, which involved estimating the relative subsets of RNA transcripts and single-sample gene set enrichment analysis. Diagnostic models were constructed using logistic regression, support vector machine, and least absolute shrinkage and selection operator regression. RESULTS: Twenty ERSRDEGs were identified, with CYBB, ATP6V1A, and TNFRSF12A significantly upregulated in CD samples. GO and KEGG analyses highlighted oxidative stress response and extracellular matrix remodeling as key mechanisms in CD pathogenesis. Immune analysis revealed an increase in regulatory T cells and a reduction in CD8. T cells. TNFRSF12A showed strong immune associations and, together with TWIST1 and ATP6V1A, formed the final preliminary diagnostic model. The preliminary LASSO model achieved satisfactory predictive accuracy (AUC: 0.7-0.9). DISCUSSION: These findings suggest that ER stress and immune imbalance jointly contribute to cartilage degeneration. The identified genes, particularly TNFRSF12A, TWIST1, and ATP6V1A, not only serve as potential biomarkers but also provide preliminary evidence for new mechanistic insights into stress-immune crosstalk in CD. CONCLUSION: This study reveals the key roles of ER stress and immune dysregulation in CDs. Moreover, the ERSRDEG-based diagnostic model provides preliminary bioinformatics evidence and potential molecular indicators for targeted diagnostics and therapies.

Humans↗
PubMed2001

Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions.

PURPOSE: We seek to identify genetic loci that contribute to age-related maculopathy susceptibility. METHODS: Families consisting of at least two siblings affected by age-related maculopathy were ascertained using eye care records and fundus photographs. Additional family members were used to increase the power to detect linkage. Microsatellite genotyping was conducted by the National Heart, Lung and Blood Institute Mammalian Genotyping Service and the National Institutes of Health Center for Inherited Disease Research. Linkage analyses were conducted with parametric (autosomal dominant; heterogeneity lod score) and nonparametric methods (S(all) statistic) using three diagnostic models. False-positive rates were determined from simulations using actual pedigrees and genotyping data. RESULTS: Under our least stringent diagnostic model, model C, 860 affected individuals from 391 families (452 sib pairs) were genotyped. Sixty-five percent of the affected individuals had evidence of exudative disease. Four regions, 1q31, 9p13, 10q26, and 17q25, showed multipoint heterogeneity lod scores or S(all) scores of 2.0 or greater (under at least one model). Under our most stringent diagnostic model, model A, the 1q31 heterogeneity lod score was 2.46 between D1S1660 and D1S1647. Under model C, the 17q25 heterogeneity lod score at D17S928 was 3.16. Using a threshold of 1.5, additional loci on chromosomes 2 and 12 were identified. CONCLUSIONS: The locus on chromosome 1q31 independently confirms a report by Klein and associates mapping an age-related maculopathy susceptibility gene to this region. Simulations indicate that the 1q31 and 17q25 loci are unlikely to be false positives. There was no evidence that other known macular or retinal dystrophy candidate gene regions are major contributors to the genetics of age-related maculopathy.

Aged↗