We performed a genome-wide linkage analysis search for a genetic locus responsible for kidney dysfunction in a large family. This inherited condition, characterized by proteinuria, progressive renal insufficiency, and focal segmental glomerulosclerosis, follows autosomal dominant inheritance. We show with a high degree of certainty (maximum 2-point lod score 12.28) that the gene responsible for this condition is located on chromosome 19q13.
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J Imaging Inform Med
January 2025
School of Computing, Informatics, and Decision Systems Engineering, Arizona State University, Tempe, AZ, USA.
Vision transformer (ViT)and convolutional neural networks (CNNs) each possess distinct strengths in medical imaging: ViT excels in capturing long-range dependencies through self-attention, while CNNs are adept at extracting local features via spatial convolution filters. While ViT may struggle with capturing detailed local spatial information, critical for tasks like anomaly detection in medical imaging, shallow CNNs often fail to effectively abstract global context. This study aims to explore and evaluate hybrid architectures that integrate ViT and CNN to leverage their complementary strengths for enhanced performance in medical vision tasks, such as segmentation, classification, reconstruction, and prediction.
View Article and Find Full Text PDFNat Methods
January 2025
Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.
Teravoxel-scale, cellular-resolution images of cleared rodent brains acquired with light-sheet fluorescence microscopy have transformed the way we study the brain. Realizing the potential of this technology requires computational pipelines that generalize across experimental protocols and map neuronal activity at the laminar and subpopulation-specific levels, beyond atlas-defined regions. Here, we present artficial intelligence-based cartography of ensembles (ACE), an end-to-end pipeline that employs three-dimensional deep learning segmentation models and advanced cluster-wise statistical algorithms, to enable unbiased mapping of local neuronal activity and connectivity.
View Article and Find Full Text PDF3D Print Med
January 2025
Department of Pediatric Cardiology, The Heart Institute, University of Colorado, Children's Hospital Colorado, 13123 E 16th Ave B100, 80045, Aurora, CO, USA.
Background: Despite advancements in imaging technologies, including CT scans and MRI, these modalities may still fail to capture intricate details of congenital heart defects accurately. Virtual 3D models have revolutionized the field of pediatric interventional cardiology by providing clinicians with tangible representations of complex anatomical structures. We examined the feasibility and accuracy of utilizing an automated, Artificial Intelligence (AI) driven, cloud-based platform for virtual 3D visualization of complex congenital heart disease obtained from 3D rotational angiography DICOM images.
View Article and Find Full Text PDFGlobal Spine J
January 2025
Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai, China.
Study Design: Retrospective cohort study.
Objectives: To explore the correlation between Facet Tropism (FT) and OPLL in cervical spine.
Methods: One-hundred patients with OPLL of cervical spine and one-hundred normal participants without OPLL or cervical disc herniation were included in this study, the patients were matched to the normal participants respectively based on the same sex and similar age (±5).
Increasing variability down serially segmented structures, such as mammalian molar teeth and vertebrate limb segments, is a much-replicated pattern. The same phenotypic pattern has conflicting interpretations at different evolutionary scales. Macroevolutionary patterns are thought to reflect greater evolutionary potential in later-forming segments, but microevolutionary patterns are thought to reflect less evolutionary potential and greater phenotypic plasticity.
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