Tag: statistics

Nat Genet. 2025 Jan 2. doi: 10.1038/s41588-024-01982-6. Online ahead of print.

ABSTRACT

Complete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. In the present study, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34,774 conditionally distinct expression quantitative trait locus (eQTL) signals at 18,476 genes. Over half of eQTL genes exhibited at least two eQTL signals. Compared with primary eQTL signals, nonprimary eQTL signals had lower effect sizes, lower minor allele frequencies and less promoter enrichment; they corresponded to genes with higher heritability and higher tolerance for loss of function. Colocalization of eQTLs with genome-wide association study (GWAS) signals for 28 cardiometabolic traits identified 1,835 genes. Inclusion of nonprimary eQTL signals increased discovery of colocalized GWAS-eQTL signals by 46%. Furthermore, 21 genes with ≥2 colocalized GWAS-eQTL signals showed a mediating gene dosage effect on the GWAS trait. Thus, expanded eQTL identification reveals more mechanisms underlying complex traits and improves understanding of the complexity of gene expression regulation.

PMID:39747594 | DOI:10.1038/s41588-024-01982-6

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11325-y. Online ahead of print.

NO ABSTRACT

PMID:39747591 | DOI:10.1007/s00330-024-11325-y

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11298-y. Online ahead of print.

NO ABSTRACT

PMID:39747590 | DOI:10.1007/s00330-024-11298-y

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11256-8. Online ahead of print.

ABSTRACT

OBJECTIVES: Incidentally detected pulmonary nodules present a challenge in clinical routine with demand for reliable support systems for risk classification. We aimed to evaluate the performance of the lung-cancer-prediction-convolutional-neural-network (LCP-CNN), a deep learning-based approach, in comparison to multiparametric statistical methods (Brock model and Lung-RADS®) for risk classification of nodules in cohorts with different risk profiles and underlying pulmonary diseases.

MATERIALS AND METHODS: Retrospective analysis was conducted on non-contrast and contrast-enhanced CT scans containing pulmonary nodules measuring 5-30 mm. Ground truth was defined by histology or follow-up stability. The final analysis was performed on 297 patients with 422 eligible nodules, of which 105 nodules were malignant. Classification performance of the LCP-CNN, Brock model, and Lung-RADS® was evaluated in terms of diagnostic accuracy measurements including ROC-analysis for different subcohorts (total, screening, emphysema, and interstitial lung disease).

RESULTS: LCP-CNN demonstrated superior performance compared to the Brock model in total and screening cohorts (AUC 0.92 (95% CI: 0.89-0.94) and 0.93 (95% CI: 0.89-0.96)). Superior sensitivity of LCP-CNN was demonstrated compared to the Brock model and Lung-RADS® in total, screening, and emphysema cohorts for a risk threshold of 5%. Superior sensitivity of LCP-CNN was also shown across all disease groups compared to the Brock model at a threshold of 65%, compared to Lung-RADS® sensitivity was better or equal. No significant differences in the performance of LCP-CNN were found between subcohorts.

CONCLUSION: This study offers further evidence of the potential to integrate deep learning-based decision support systems into pulmonary nodule classification workflows, irrespective of the individual patient risk profile and underlying pulmonary disease.

KEY POINTS: Question Is a deep-learning approach (LCP-CNN) superior to multiparametric models (Brock model, Lung-RADS®) in classifying pulmonary nodule risk across varied patient profiles? Findings LCP-CNN shows superior performance in risk classification of pulmonary nodules compared to multiparametric models with no significant impact on risk profiles and structural pulmonary diseases. Clinical relevance LCP-CNN offers efficiency and accuracy, addressing limitations of traditional models, such as variations in manual measurements or lack of patient data, while producing robust results. Such approaches may therefore impact clinical work by complementing or even replacing current approaches.

PMID:39747589 | DOI:10.1007/s00330-024-11256-8

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11304-3. Online ahead of print.

ABSTRACT

OBJECTIVE: Intensive medical management has been recommended for ischemic stroke of intracranial atherosclerosis (ICAS), but 9.4-15% probability of recurrent stroke remains an inevitable reality. The characteristics of high-risk intracranial plaque that contribute to stroke recurrence after intensive therapy are unclear.

METHODS: The patients of acute ischemic stroke due to ICAS from two centers were prospectively analyzed, who underwent the 3D high-resolution head and neck vessel wall magnetic resonance imaging (hr-VW-MRI) at baseline and received intensive medical management within 90 days. The morphological features, such as minimal lumen area (MLA), and histogram parameters including entropy were assessed based on hr-VW-MR images. The recurrence of ischemic events after 6 months was defined as hyperintensity on diffusion-weighted images in the ipsilateral vascular territory. Cox regression analysis was used to calculate the hazard ratio (HR) and 95% confidence interval (CI) for recurrent events.

RESULTS: A total of 222 patients (age 59.5 ± 12.1; males 153) were finally included, and 38 had recurrent stroke after 6 months. After adjusting the age and gender, Cox regression demonstrated that smoking (HR = 4.321; 95% CI, 1.838-10.161; p = 0.001), taking exercise (HR = 0.409; 95% CI, 0.198-0.843; p = 0.015), blood pressure management (HR = 0.180; 95% CI, 0.073-0.443; p = 0.001), MLA (HR = 0.771; 95% CI, 0.625-0.951; p = 0.015) and entropy (HR = 0.274; 95% CI, 0.130-0.576; p = 0.001) were significant predictors of recurrent ischemic stroke. However, the area under curve value of MRI parameters was significantly higher than that of traditional clinical factors (0.86 vs 0.79; p = 0.01).

CONCLUSIONS: The plaque characteristics based on hr-VW-MRI may provide complementary values over traditional clinical features in predicting ischemic recurrence for ICAS.

KEY POINTS: Question The study addresses recurrent ischemic stroke in intracranial atherosclerosis patients, identifying high-risk plaque features that contribute to recurrence despite intensive medical management. Findings Plaque features on high-resolution vessel wall magnetic resonance imaging (hr-VW-MRI), such as minimal lumen area and entropy, improve prediction of stroke recurrence over clinical factors. Clinical relevance This two-center prospective study improves patient care by using hr-VW-MRI and histogram factors like entropy to better predict stroke recurrence, allowing for more personalized treatment strategies and potentially reducing ischemic events in patients with intracranial atherosclerosis.

PMID:39747588 | DOI:10.1007/s00330-024-11304-3

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11280-8. Online ahead of print.

NO ABSTRACT

PMID:39747587 | DOI:10.1007/s00330-024-11280-8

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11213-5. Online ahead of print.

ABSTRACT

Imaging is used for lymphoma detection, Ann Arbor/Lugano staging, and treatment response assessment. [¹⁸F]FDG PET/CT should be used for most lymphomas, including Hodgkin lymphoma, aggressive/high-grade Non-Hodgkin lymphomas (NHL) such as diffuse large B-cell lymphoma, and many indolent/low-grade NHLs such as follicular lymphoma. Apart from these routinely FDG-avid lymphomas, some indolent NHLs, such as marginal zone lymphoma, are variably FDG-avid; here, [¹⁸F]FDG PET/CT is an alternative to contrast-enhanced CT at baseline and may be used for treatment response assessment if the lymphoma was FDG-avid at baseline. Only small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL) should exclusively undergo CT at baseline and follow-up unless transformation to high-grade lymphoma is suspected. While [¹⁸F]FDG PET/CT is sufficient to rule out bone marrow involvement in Hodgkin lymphoma, biopsy may be needed in other lymphomas. The 5-point (Deauville) score for [¹⁸F]FDG PET that uses the liver and blood pool uptake as references should be used to assess treatment response in all FDG-avid lymphomas; post-treatment FDG uptake ≤ liver uptake is considered complete response. In all other lymphomas, CT should be used to determine changes in lesion size; for complete response, resolution of all extranodal manifestations, and for lymph nodes, long-axis decrease to ≤ 1.5 cm are required. KEY POINTS: [¹⁸F]FDG-PET/CT and contrast-enhanced CT are used to stage lymphoma depending on type. Imaging is required for staging, and biopsies may be required to rule out bone marrow involvement. For treatment response assessment, the 5-PS (Deauville) score should be used; in a few indolent types, CT is used to determine changes in lesion size.

PMID:39747586 | DOI:10.1007/s00330-024-11213-5

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11281-7. Online ahead of print.

NO ABSTRACT

PMID:39747585 | DOI:10.1007/s00330-024-11281-7

Eur Radiol. 2025 Jan 2. doi: 10.1007/s00330-024-11316-z. Online ahead of print.

ABSTRACT

Tinnitus is common, with approximately 1/4 of the elderly population experiencing chronic tinnitus. While non-pulsatile tinnitus usually has no structural cause, pulsatile tinnitus is more likely to have an identifiable aetiology, and imaging plays a key role in the search for treatable and life-threatening causes. Since the characteristics of the tinnitus guide the diagnostic strategy, a detailed clinical assessment should always be performed before imaging is considered. In the setting of non-pulsatile tinnitus, imaging with MRI should only be performed if it is unilateral or asymmetric, or when it is associated with focal neurologic abnormalities or asymmetric hearing loss. In contrast, imaging investigation is always required in the presence of pulsatile tinnitus. Whilst there are specific clinical features in which temporal bone CT will be the initial imaging strategy for pulsatile tinnitus (e.g., retrotympanic mass or conductive hearing loss), most patients will require either CT or MRI with arterial and venous imaging. The clinical categorisation of pulsatile tinnitus as “arterial” or “venous” may guide the radiological search and help understand the significance of certain imaging findings (e.g., venous variants). Significant pathology (e.g., dural arteriovenous malformation) must be excluded in the context of objective pulsatile tinnitus and may require additional cross-sectional imaging; conventional angiography is now rarely indicated. KEY POINTS: In patients with unilateral, non-pulsatile tinnitus, MRI should be performed to rule out retrocochlear disease. All patients with pulsatile tinnitus should be imaged and the clinical assessment guides the selection of the most appropriate imaging technique. If the first imaging study does not reveal the suspected cause of objective pulsatile tinnitus, additional imaging investigations should be performed to exclude alternative diagnoses.

PMID:39747584 | DOI:10.1007/s00330-024-11316-z

Sci Rep. 2025 Jan 2;15(1):575. doi: 10.1038/s41598-024-84339-7.

ABSTRACT

Altruism is beneficial to society as it promotes mental and physical health alongside economic and societal growth. Previous studies have indicated, however, that people tend not to engage in altruistic behaviors toward strangers. Therefore, it is crucial to investigate the factors that motivate individuals to participate in altruistic actions. This study explores the dynamic interplay of media and social factors that enhance altruistic behavior in adults, utilizing the General Learning Model (GLM) and Norm Activation Theory (NAT). To achieve this, the Decision-Making Trial and Evaluation Laboratory (DEMATEL) approach, coupled with Structural Equation Modelling (SEM), is applied. The research comprehensively examines the direct and indirect influence of media elements (such as prosocial media content and persuasive communication) and social factors (including religiosity and social norms) on altruistic behavior. Empathy, moral elevation, and compassion serve as mediators in this process. The DEMATEL approach involves a panel of 20 experts, while SEM analyzes data from a significant sample of 1296 participants drawn from the general public in Taiwan. DEMATEL results shed light on causal factors shaping altruistic behavior, highlighting the roles of religiosity, empathy, and compassion. Shifting to the SEM results, most direct relationships between variables are statistically significant, affirming their importance. However, the findings also reveal unexpected negative associations, challenging the initial hypotheses. Notably, compassion and persuasive communication were found to have negative correlations with altruistic behavior, contrary to expectations.

PMID:39747565 | DOI:10.1038/s41598-024-84339-7