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At least 19 recordsLinked to original sources
PubMed2025

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.

PURPOSE: Limited evidence evaluates parents' perceptions of their child's clinical genome-scale sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap. METHODS: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure. We assessed outcomes' associations with child- and parent-related factors: child age; type of GS finding; and parent health literacy, numeracy, and education. RESULTS: A total of 1763 parents completed surveys; 83% met "underserved" criteria based on race, ethnicity, and risk factors for barriers to access. We observed high perceived understanding and personal utility and low test-related distress. Outcomes were associated with the type of GS finding; parents of children with a pathogenic or likely pathogenic finding endorsed higher personal utility and more test-related distress than those whose children had a variant of uncertain significance or normal finding. Personal utility was higher in parents who met the criteria for "underserved." CONCLUSION: Our findings shed light on correlates of parents' cognitive and emotional responses to their child's GS findings and emphasize the need for tailored support in disclosure discussions.

Humans↗
PubMed1976

Health care utilization by persons with chronic disabilities who have been vocationally rehabilitated.

This investigation focuses on the effect of vocational rehabilitation on persons with chronic disabilities who have epilepsy, heart disease, spinal cord injury, arthritis, or emphysema. A thesis is proposed that such rehabilitants might be more vulnerable to unemployment than others, and it is also hypothesized that this frequently would be related to health care utilization. The study comprised 338 former clients of the State Rehabilitation Agency who had their cases successfully closed in the two-year period immediately prior to this study. All persons were sent a 12-page questionnaire dealing with matters of health, employment, social support, demography, medical economics, expressed needs, and relationship with the rehabilitation agency. Two-thirds (N = 213) of the clients responded. In addition, supplemental information was volunteered substantially by narrative and telephone. The primary thesis of the project was sustained; 43.7% were either unemployed or working less than full time six months after rehabilitation. However, few of the respondents reported having difficulties with health care utilization or availability. We propose a different rehabilitation services model to meet the needs of such clients. It should accentuate better diagnosis, careful selection of objectives, adequate vocational preparation, health care advisement, and more extensive job follow-up.

Adult↗
PubMed2024

Payer perspectives on genomic testing in the United States: A systematic literature review.

PURPOSE: Health care stakeholders' perspectives on the value of genomic testing vary widely and directly affect the access and practice of genomic medicine. To our knowledge, a review of US health care payers' perspectives on genomic testing has not been performed. METHODS: We conducted a systematic literature review of US payers' perspectives on genomic testing in the MEDLINE, PubMed, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases. Of the 161 nonduplicate records screened, we summarized findings from 20 included records, and using the framework method, common domains were recorded. RESULTS: Domains included clinical utility, coverage decision frameworks, potential harms, costs, paying for research, demand/pressure, the flexibility of outcomes considered, and personal utility. There was consensus on the definition of clinical utility as improved health outcomes, and the nuances of genomic testing were reported as challenging to fit within existing coverage decision frameworks. Perspectives varied on accepting broader outcomes or uses of genomic testing and whether costs influence coverage decisions. Study methodologies were heterogeneous. CONCLUSION: A deeper understanding of how payers approach genomic testing may allow comparison with other stakeholders' perspectives and may identify challenges, opportunities, and solutions to align a conceptual and evidentiary framework better to demonstrate the value of genomic testing.

Humans↗
PubMed2025

AlphaGenome Enhances Personal Gene Expression Prediction but Retains Key Limitations.

In recent years, numerous genome AI models have been developed to elucidate the relationship between DNA sequence and gene expression. However, these models have faced criticism for their limited accuracy in predicting individual-specific gene expression. AlphaGenome, the current state-of-the-art in genome AI, achieves exceptional performance across a range of sequence-based predictive tasks, but its utility for personal expression prediction has not yet been assessed. In this study, we evaluate AlphaGenome's ability to predict personal gene expression and find that it significantly outperforms its predecessor. Using GTEx data, AlphaGenome improves the prediction of expression direction over Enformer, achieving an odds ratio of 3.0. In some cases, it even reverses previously observed negative correlations into positive ones. Moreover, AlphaGenome demonstrates improved performance for genes with known nonlinear sequence-expression relationships, though it uncovers mechanisms distinct from those identified by tree-based models.

deep learning↗
PubMed2026

Sodium Overload-Related Molecular Subtypes and a Four-Gene Prognostic Signature Predict Survival, Immune Landscape, and Therapeutic Response in Acute Myeloid Leukemia.

Sodium overload has recently emerged as a critical metabolic stressor involved in cancer progression; however, its molecular characteristics and clinical relevance in acute myeloid leukemia (AML) remain unexplored. RNA-seq data sets, clinical annotations, and mutational profiles of AML patients were annotations from The Cancer Genome Atlas and integrated with Genotype-Tissue Expression normal samples. Sodium overload-related genes (SORGs) were obtained from GeneCards. Differentially expressed SORGs (DESORGs) screened by applying the limma statistical model, followed by univariate Cox proportional hazards regression, consensus clustering, functional enrichment, immune infiltration analysis, and pathway evaluation. A prognostic signature was developed through least absolute shrinkage and selection operator regression followed by multivariate Cox modeling. The model's performance was further verified in two external GEO data sets (GSE71014 and GSE37642). Nomogram construction, subgroup analysis, tumor mutational burden (TMB) assessment, drug sensitivity prediction, transcription factor (TF) analysis, and competing endogenous RNA (ceRNA) network analyses were also performed. A total of 57 DESORGs were identified, and 2 sodium overload-related molecular subtypes exhibited distinct survival, immune infiltration, and inflammatory pathway activation. A robust four-gene signature (DOCK1, GABRE, HTR7, ACSM1) stratified patients into high- and low-risk categories with significantly different survival across training and validation cohorts. High-risk patients displayed increased immune infiltration, higher TMB, reduced sensitivity to multiple chemotherapeutic drugs, and inferior predicted response to PD-L1 blockade. TF and ceRNA networks revealed multilayered transcriptional and post-transcriptional regulation of the signature genes. This study identifies sodium overload-related molecular heterogeneity in AML and establishes a validated four-gene prognostic signature that integrates genomic, immunologic, and therapeutic features, offering potential utility for personalized risk assessment and treatment optimization.

Humans↗
PubMed1977

[The value of RNase-ANA determinations for the diagnosis of Sharp syndrome (mixed connective tissue disease) (author's transl)].

The presence of antinuclear antibodies with speckled pattern is essential for the diagnosis of the Sharp Syndrome (moxed connective tissue disease=MCTD). It is however not a specific finding seen only in this condition. Antinuclear antibodies (ANA) with speckled pattern can be observed in sera of patients with various rheumatic diseases (rheumatoid arthritis, systemic lupus erythematosus, Sjögren Syndrome) and even in healthy persons. Yet, utilizing the differentiation system of the antinuclear antibodies, it seems to be possible to establish the diagnosis of mixed connective tissue disease. The antinuclear antibodies in mixed connective tissue disease show high titres (1:2560--1:20,480), contain IgG and bind complement. The antigen is a ribonucleoprotein (RNP) which is sensitive to ribonuclease treatment. The latter observation allows a differentiation between the ANA in mixed connective tissue disease and the ANA in other conditions, especially in systemic lupus erythematosus and Sjögren Syndrome.

Antibodies, Antinuclear↗
PubMed2024

Fine-mapping the CYP2A6 regional association with nicotine metabolism among African American smokers.

The nicotine metabolite ratio (NMR; 3'hydroxycotinine/cotinine) is a stable biomarker for CYP2A6 enzyme activity and nicotine clearance, with demonstrated clinical utility in personalizing smoking cessation treatment. Common genetic variation in the CYP2A6 region is strongly associated with NMR in smokers. Here, we investigated this regional association in more detail. We evaluated the association of CYP2A6 single-nucleotide polymorphisms (SNPs) and * alleles with NMR among African American smokers (N = 953) from two clinical trials of smoking cessation. Stepwise conditional analysis and Bayesian fine-mapping were undertaken. Putative causal variants were incorporated into an existing African ancestry-specific genetic risk score (GRS) for NMR, and the performance of the updated GRS was evaluated in both African American (n = 953) and European ancestry smokers (n = 933) from these clinical trials. Five independent associations with NMR in the CYP2A6 region were identified using stepwise conditional analysis, including the deletion variant CYP2A6*4 (beta = -0.90, p = 1.55 × 10-11). Six putative causal variants were identified using Bayesian fine-mapping (posterior probability, PP = 0.67), with the top causal configuration including CYP2A6*4, rs116670633, CYP2A6*9, rs28399451, rs8192720, and rs10853742 (PP = 0.09). Incorporating these putative causal variants into an existing ancestry-specific GRS resulted in comparable prediction of NMR within African American smokers, and improved trans-ancestry portability of the GRS to European smokers. Our findings suggest that both * alleles and SNPs underlie the association of the CYP2A6 region with NMR among African American smokers, identify a shortlist of variants that may causally influence nicotine clearance, and suggest that portability of GRSs across populations can be improved through inclusion of putative causal variants.

Adult↗
PubMed2025

Polygenic risk of coronary artery disease for long-term survivors of breast cancer.

BACKGROUND: Cardiovascular disease is a leading cause of death for long-term breast cancer survivors. We evaluated whether a polygenic risk score for coronary artery disease (CAD-PRS) was associated with the risk of incident CAD for survivors of unilateral or contralateral breast cancer. METHODS: The study included 1307 women with breast cancer first diagnosed at younger than 55 years of age who participated in the Women's Environmental Cancer and Radiation Epidemiology Follow-up Study. The CAD-PRS was based on a PRS developed and validated in a separate population. We modeled the association between incident CAD and the CAD-PRS, adjusting for age, CAD risk factors, first (and second) breast cancer treatment, study recruitment phase, and genetic population stratification. We also explored whether the risk of CAD depended on interactions between the CAD-PRS and cardiotoxic cancer treatment. RESULTS: There were 66 incident CAD diagnoses reported at a median of 16 years after breast cancer diagnosis. Participants with CAD-PRS at or above the median had a 2.48-times increased risk of CAD (95% confidence interval [CI] = 1.44 to 4.29) relative to participants with CAD-PRS below the median. Anthracycline-based chemotherapy was associated with increased CAD risk (hazard ratio [HR] = 2.04, 95% CI = 1.04 to 3.98), and the association was not modified by the CAD-PRS. The association between incident CAD and left-sided radiation therapy (RT) was increased for those with CAD-PRS at or above the median (HR = 2.90, 95% CI = 1.26 to 6.68) but not for those with CAD-PRS below the median (HR = 0.96, 95% CI = 0.32 to 2.88). There was evidence of super-additive interaction between the CAD-PRS and left-sided RT (relative excess risk due to interaction = 2.06, 95% CI = 0.05 to 4.06). CONCLUSION: A genome-wide CAD-PRS was associated with nonfatal CAD risk for long-term breast cancer survivors, providing potential utility for personalized cardiovascular care, particularly after RT.

Humans↗
PubMed2026

A per- and polyfluoroalkyl substances-based gene signature links prognosis to immune landscapes in thyroid cancer.

BACKGROUND: Thyroid cancer (THCA) is the most common endocrine malignancy with a rising global incidence and significant heterogeneity. Although per- and polyfluoroalkyl substances (PFAS) exposure is linked to thyroid dysfunction, the prognostic value of per- and polyfluoroalkyl substances-related genes (PFASRGs) and their role in the tumor immune microenvironment (TME) remain poorly understood. This study aims to systematically screen key PFASRGs and evaluate their prognostic value as biomarkers for THCA. METHODS: Utilizing The Cancer Genome Atlas (TCGA)-THCA transcriptomic data and PFASRGs, we constructed a prognostic model through differential expression analysis, univariate and multivariate Cox regression analyses, and the least absolute shrinkage and selection operator (LASSO). The model's robustness was validated using receiver operating characteristic (ROC) curves, Kaplan-Meier analysis, and clinical nomograms. Furthermore, the TME, immunotherapy response, and drug sensitivities were systematically evaluated. Distinct molecular landscapes were characterized by stratifying the cohort via unsupervised consensus clustering analysis. RESULTS: The eight-gene prognostic model demonstrated robust performance, with area under the curve (AUC) values exceeding 0.85 across all validation cohorts. High-risk patients exhibited significantly shorter overall survival and an "inflamed" TME characterized by high immune scores and checkpoint expression. In contrast, the therapeutic efficacy of anti-programmed death-ligand 1 (PD-L1) agents was more pronounced in the low-risk category, as evidenced by a superior objective response. Furthermore, distinct molecular subtypes and risk-specific sensitivities to targeted agents, such as sorafenib and sunitinib, were identified, highlighting the model's clinical utility for personalized treatment. CONCLUSIONS: We established a novel THCA prognostic framework based on eight PFASRGs. This model exhibits superior performance in risk stratification, effectively distinguishing cohorts with divergent clinical trajectories, unique immune microenvironment features, and varied therapeutic responses. Our findings provide a powerful predictive tool for refining prognostic evaluation and facilitating the implementation of personalized management strategies for THCA patients.

Per- and polyfluoroalkyl substances-related genes ↗
PubMed1977

[The diagnostic and therapeutic possibilities of endolaryngeal microsurgery (author's transl)].

The technique and types of anesthesia for endolaryngeal microsurgery are described, utilizing a personal series of 1283 procedures which were performed over a preceding ten-year period. The great diagnostic value of this method of examination for the early diagnosis of glottic carcinoma is shown. 54.4% of all endolaryngeal microsurgical operations performed were used for the diagnosis, therapy and control of tumors. The remaining 45.6% of cases were undertaken to eliminate benign voice=disturbing processes. The indications for surgery are discussed, with note given to the low complication rate associated with such surgery.

Catheterization↗
PubMed2026

Oncotype DX: Clinical Utility, Evidence, and Future Trends in Personalized Breast Cancer Management.

The Oncotype DX assay has revolutionized the management of early-stage, hormone receptor-positive, HER2-negative breast cancer. Developed in 2004, it quantifies 21 genes to generate a recurrence score that predicts distant recurrence risk and guides adjuvant chemotherapy. Multiple studies have validated its reliability and clinical utility in enabling more precise risk stratification and individualized treatment planning, thereby minimizing unnecessary chemotherapy exposure and improving patient outcomes. Leading oncology organizations such as the American Society of Clinical Oncology and National Comprehensive Cancer Network have incorporated it into their clinical guidelines. Beyond its well-established role in adjuvant chemotherapy decision-making, Oncotype DX is increasingly being investigated in broader clinical contexts, including lymph node-positive breast cancer, neoadjuvant therapy, radiotherapy, and ductal carcinoma in situ. Ongoing research and technological advancements, such as artificial intelligence-based predictive models and novel biomarker identification, hold significant promise for further enhancing its predictive accuracy and expanding its applications. This review synthesizes current evidence supporting the clinical utility of Oncotype DX, discusses evolving applications, and highlights future directions for integrating this genomic tool into precision oncology practice.

Humans↗
PubMed1978

Seeking clinic care for veneral disease: a study of teenagers.

Seventy-three male and 68 female teenagers attending a VD clinic sponsored by Chicago Department of Health were surveyed to identify their reasons for visiting the clinic, symptoms experienced, and sources of VD information and referrals. Sex, previous VD history, and presenting symptoms were factors examined in the data analysis. More t han 75% of subjects visited the clinic without a previous VD history. The most frequently cited reason for seeking care for males was a suspected symptom of VD; whereas females' reasons were diversified. Unusual discharge and burning urination were common symptoms reported for both sexes. The chief source of VD information for all teenagers was friends. Mass media was reported as an important source of information for males, while females frequently cited health care personnel. Verereal disease symptoms, location of clinics, and awareness of the importance of early treatment emerged as important elements of VD education. The study suggested that the dissemination of VD information was more effective when a personal approach was utilized for both males and females. For early casefinding and treatment of VD, a personal approach seemed to play a key role in motivating the teenagers to seek health care.

Adolescent↗
PubMed2025

Unveiling non-small cell lung cancer treatment effect heterogeneity: a comparative analysis of statistical methods.

BACKGROUND: For patients with advanced non-small cell lung cancer lacking targetable genomic alterations, the impact of clinicogenomic characteristics on the effectiveness of combining chemotherapy with immunotherapy is unclear. METHODS: We evaluated 4 statistical methods for detecting heterogeneous treatment effects related to clinical factors, including programmed death-ligand 1 expression, tumor mutation burden, and stage at diagnosis, using the American Association for Cancer Research Project Genomics Evidence Neoplasia Exchange BioPharma Collaborative dataset supplemented with institutional data collected under the same data curation model. A 2-sided P value of no more than .05 was used to denote statistical significance for all analyses. RESULTS: The mixture model revealed 2 latent subgroups: in one subgroup, there was no meaningful treatment effect, with average progression-free survival (PFS) only 5% longer with immunotherapy alone (95% confidence interval [CI] = -19% to 35%); in the second subgroup, immunotherapy alone was associated with a 35% decrease in average PFS (95% CI = -59% to 2%), corresponding to a ratio in treatment effects of 1.62 (95% CI = 1.02 to 2.57). There was a marginal association between lower tumor mutation burden levels and membership in the subgroup with improved PFS following receipt of chemoimmunotherapy. The causal survival forest highlighted the importance of tumor mutation burden (variable importance ranking: 1) and programmed death-ligand 1 (variable importance ranking: 3) when assessing heterogeneity. In contrast, the accelerated failure time and Cox proportional hazards models did not detect any statistically significant heterogeneous treatment effects. In simulations, the mixture model identified heterogeneous treatment effects more frequently than other methods, especially with weak covariate relationships, demonstrating its utility for informing personalized treatment approaches. CONCLUSIONS: The application of novel statistical methods to large scale clinico-genomic databases offers an opportunity to more accurately identify heterogeneous treatment effects in some settings as compared to traditional statistical methods. Applying such methods to the AACR Project GENIE BPC non-small cell lung cancer data indicated a potential association between decreasing tumor mutation burden and improved outcomes with chemoimmunotherapy as compared to immunotherapy alone.

Humans↗
PubMed1979

A joint practice council in action.

A nurse/physician joint practice council, patterned after the activities and recommendations of the National Joint Practice Commission, was developed at a community hospital to provide a forum for nurse-physician dialogue regarding roles and practice issues. Clear objectives, good communications, utilization of resource persons, and equal physician and nurse representation and critical elements of the council's success. In operation, the council's focus is evolving from conflict resolution to a medium for planning and implementing change.

American Medical Association↗
PubMed1979

Comparing the medical utilization and expenditures of low income health plan enrollees with Medicaid recipients and with low income enrollees having Medicaid eligibility.

The study examines the medical care (hospital, physician, drug, diagnostic) utilization and expenditures of low income persons enrolled in a prepaid health plan with a matched group of Medicaid recipients. The study also examines the medical care utilization of low income persons enrolled in a prepaid health plan with a similar group of low income persons enrolled in the health plan but also eligible for Medicaid benefits. Utilization and population-at-risk data were obtained from the Kaiser-Permanente Medical Care Program of Portland, Oregon and from the State of Oregon Welfare Division. A hypothesis of lower hospital utilization by low income enrollees compared with Medicaid recipients was accepted. A hypothesis of higher ambulatory care utilization was accepted for diagnostic procedures and prescription use, but rejected for office visit utilization. An analysis of the findings appeared to implicate the Medicaid program for differences observed. The hypotheses of no significant differences in inpatient and ambulatory medical care utilization of low income health plan enrollees with and without Medicaid eligibility were generally rejected. Low income enrollees with concurrent Medicaid had consistently higher utilization rates for all services resulting in substantially higher medical care expenditures per person. The findings appear to contribute some useful information to planning or establishing policy for Medicaid Prepayment programs or other programs enrolling low income persons in prepaid health plans or HMOs.

Adolescent↗
PubMedDate not supplied

Understanding the effects of child abuse.

Child abuse is one of the difficult social phenomena with which the technologist directly deals as a part of his professional responsibilities. To be able to respond to all of the child's needs, radiologic technologists need to understand not only the physical effects, but also the psychological effects of the child. Understanding also helps the technologist deal with his own feelings when interacting with either the abused child or the child's parents. The Draw-A-Person test (DAP) was utilized in this study to illustrate visually the effect of abuse on the child's self-image. The subsequent personality characteristics of these children include low self-esteem, withdrawal, extreme forms of impulse control, and self-destructive behavior. Using the DAP, the abused child's self-portrait frequently showed body distortion, lack of detailing and poor sexual identification. In addition, the personality pattern of abusing parents was found to have many of the same characteristics as the personalities of abused children, because many times abusing parents were themselves abused as children.

Child↗
PubMed1977

MMPI identification of nonrehabilitants among disabled veterans.

Utilized the Minnesota Multiphasic Personality Inventory (MMPI) with IQ scores and selected biographic data to identify drop-outs in a Veterans Administration vocational rehabilitation program. Subjects were 61 male disabled veterans. Data were collected at VA Hospital Richmond, Virginia, between September 1973 and September 1974. Follow-up six months after entrance into training utilized persistence in training or employment as success criteria. Multivariate analysis identified 32 of 33 successful and 25 of 28 unsuccessful subjects with p less than .001. Factor analysis of the best predictors identified MMPI Psychopathic deviate (Pd) Hypomania (Ma), and Lie (L) scales which was interpreted to be a social adjustment factor. Four other factors were identified. Results indicated the MMPI was a useful instrument in the identification of disabled veterans who were likely to experience difficulty in post-hospital vocational rehabilitation.

Acting Out↗
PubMed2026

Polygenic risk scores and lifestyle factors predicting new onset of type 2 diabetes in the Japanese general population.

PURPOSE: This study investigated the association of polygenic risk scores (PRS) and lifestyle factors with type 2 diabetes mellitus development in Japanese populations and evaluated whether PRS can improve diabetes risk prediction beyond traditional risk factors. METHODS: We conducted a cross-sectional and a longitudinal study using the Shika resident cohort (n = 895) and the Toshiba worker cohort (n = 7019), respectively. Participants were categorized into low, intermediate, and high genetic risk groups using PRS constructed with genome-wide association study data from East Asian populations. We defined diabetes based on hemoglobin A1c, fasting blood glucose, self-reported diagnosis, or medication use. The associations of PRS and lifestyle factors with diabetes development were analyzed using multivariate logistic regression and Cox proportional hazards models. RESULTS: Higher PRS were associated with increased diabetes risk in both cohorts (resident cohort: odds ratio 4.51, 95% CI 2.53-8.04; worker cohort: hazard ratio 1.50, 95% CI 1.23-1.83 for high vs low PRS), which remained consistent across age, body mass index, and comorbidities. Regular exercise, absence of hypertension, and absence of dyslipidemia were associated with lower diabetes risk, particularly in the high PRS group. The addition of PRS to conventional prediction models improved the discrimination of diabetes risk. MAIN CONCLUSION: PRS are associated with diabetes risk in Japanese general populations, independent of traditional risk factors. Nonetheless, healthy lifestyle habits may reduce diabetes risk even among genetically susceptible individuals, which support the utility of PRS for personalized diabetes risk assessment and prevention strategies.

Adult↗