Objective: This study evaluated the applicability of the classical method, height loss ratio (HLR), for identifying major acute compression fractures in clinical practice and compared its performance with deep learning (DL)-based VCF detection methods. Additionally, it examined whether combining the HLR with DL approaches could enhance performance, exploring the potential integration of classical and DL methodologies.
Methods: End-to-End VCF Detection (EEVD), Two-Stage VCF Detection with Segmentation and Detection (TSVD_SD), and Two-Stage VCF Detection with Detection and Classification (TSVD_DC). The models were evaluated on a dataset of 589 patients, focusing on sensitivity, specificity, accuracy, and precision.
Results: TSVD_SD outperformed all other methods, achieving the highest sensitivity (84.46%) and accuracy (95.05%), making it particularly effective for identifying true positives. The complementary use of DL methods with HLR further improved detection performance. For instance, combining HLR-negative cases with TSVD_SD increased sensitivity to 87.84%, reducing missed fractures, while combining HLR-positive cases with EEVD achieved the highest specificity (99.77%), minimizing false positives.
Conclusion: These findings demonstrated that DL-based approaches, particularly TSVD_SD, provided robust alternatives or complements to traditional methods, significantly enhancing diagnostic accuracy for acute VCFs in clinical practice.
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http://dx.doi.org/10.3390/bioengineering12010064 | DOI Listing |
Bioengineering (Basel)
January 2025
Department of Applied Bioengineering, Graduate School of Convergence Science and Technology, Seoul National University, Seoul 08826, Republic of Korea.
Objective: This study evaluated the applicability of the classical method, height loss ratio (HLR), for identifying major acute compression fractures in clinical practice and compared its performance with deep learning (DL)-based VCF detection methods. Additionally, it examined whether combining the HLR with DL approaches could enhance performance, exploring the potential integration of classical and DL methodologies.
Methods: End-to-End VCF Detection (EEVD), Two-Stage VCF Detection with Segmentation and Detection (TSVD_SD), and Two-Stage VCF Detection with Detection and Classification (TSVD_DC).
Hum Genet
January 2025
Department of Biomedical Sciences, University of Padova, Padova, Italy.
The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.
View Article and Find Full Text PDFBMC Bioinformatics
December 2024
Medical Faculty, Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, Pauwelsstrasse 30, 52074, Aachen, North-Rhine-Westphalia, Germany.
Diagnostics (Basel)
November 2024
Department of Applied Bioengineering, Graduate School of Convergence Science and Technology, Seoul National University, Seoul 08826, Republic of Korea.
Objectives: This study aims to assess the limitations of the height loss ratio (HLR) method and introduce a new approach that integrates a deep learning (DL) model to enhance vertebral compression fracture (VCF) detection performance.
Methods: We conducted a retrospective study on 589 patients with chronic VCFs. We compared four different methods: HLR-only, DL-only, a combination of HLR and DL for positive VCF, and a combination of HLR and DL for negative VCF.
Bioinformatics
November 2024
Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm 171 76, Sweden.
Motivation: Repeat elements, such as transposable elements (TE), are highly repetitive DNA sequences that compose around 50% of the genome. TEs such as Alu, SVA, HERV, and L1 elements can cause disease through disrupting genes, causing frameshift mutations or altering splicing patters. These are elements challenging to characterize using short-read genome sequencing, due to its read length and TEs repetitive nature.
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