Graph learning methods have achieved noteworthy performance in disease diagnosis due to their ability to represent unstructured information such as inter-subject relationships. While it has been shown that imaging, genetic and clinical data are crucial for degenerative disease diagnosis, existing methods rarely consider how best to use their relationships. How best to utilize information from imaging, genetic and clinical data remains a challenging problem. This study proposes a novel graph-based fusion (GBF) approach to meet this challenge. To extract effective imaging-genetic features, we propose an imaging-genetic fusion module which uses an attention mechanism to obtain modality-specific and joint representations within and between imaging and genetic data. Then, considering the effectiveness of clinical information for diagnosing degenerative diseases, we propose a multi-graph fusion module to further fuse imaging-genetic and clinical features, which adopts a learnable graph construction strategy and a graph ensemble method. Experimental results on two benchmarks for degenerative disease diagnosis (Alzheimers Disease Neuroimaging Initiative and Parkinson's Progression Markers Initiative) demonstrate its effectiveness compared to state-of-the-art graph-based methods. Our findings should help guide further development of graph-based models for dealing with imaging, genetic and clinical data.
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http://dx.doi.org/10.1109/TCBB.2023.3335369 | DOI Listing |
Biochem Genet
January 2025
Wildlife Institute of India, Chandrabani, Dehradun, Uttarakhand, 248001, India.
Indian Himalayan Region (IHR) supports a plethora of biodiversity with a unique assemblage of many charismatic and endemic species. We assessed the genetic diversity, demographic history, and habitat suitability of blue sheep (Pseudois nayaur) in the IHR through the analysis of the mitochondrial DNA (mtDNA) control region (CR) and Cytochrome b gene, and 14 ecological predictor variables. We observed high genetic divergence and designated them into two genetic lineage groups, i.
View Article and Find Full Text PDFEur Arch Otorhinolaryngol
January 2025
Department of Otolaryngology and Head and Neck Surgery, IRCSS AOU San Martino, University of Genoa, Largo Rosanna Benzi 10, 16132, Genoa, Italy.
Purpose: Immunoglobulin G4-related disease (IgG4-RD) is a complex systemic fibroinflammatory condition with different clinical manifestations affecting multiple organ systems. Despite its rarity, the disease presents diagnostic and therapeutic challenges due to its mimicry of malignancies and other immune-mediated disorders. The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease is the current state of art to confirm the diagnosis of IgG4-RD even in the absence of histological analysis.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Department of Cardiology, Ganzhou People's Hospital, Ganzhou, Jiangxi, China.
As multiple imaging modalities cannot reliably diagnose cardiac tumors, the molecular approach offers alternative ways to detect rare ones. One such molecular approach is CRISPR-based diagnostics (CRISPR-Dx). CRISPR-Dx enables visual readout, portable diagnostics, and rapid and multiplex detection of nucleic acids such as microRNA (miRNA).
View Article and Find Full Text PDFJ Int Med Res
January 2025
Department of Cardiac Surgery, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, Gansu, China.
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure.
View Article and Find Full Text PDFCancers (Basel)
January 2025
Department of Neurosurgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Glioblastoma is the most common primary brain tumor in adult patients, and despite standard-of-care treatment, median survival has remained less than two years. Advances in our understanding of molecular mutations have led to changes in the diagnostic criteria of glioblastoma, with the WHO classification integrating important mutations into the grading system in 2021. We sought to review the basics of the important genetic mutations associated with glioblastoma, including known mechanisms and roles in disease pathogenesis/treatment.
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