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Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFAltered medial temporal lobe subregion volumes in systemic lupus erythematosus patients with neuropsychiatric symptoms.
BMC Rheumatol
January 2025
Department of Clinical Sciences, Diagnostic Radiology, Lund, Lund University, Lund, Sweden.
Background: Systemic lupus erythematosus (SLE) often presents with neuropsychiatric (NP) involvement, including cognitive impairment and depression. Past magnetic resonance imaging (MRI) research in SLE patients showed smaller hippocampal volumes but did not investigate other medial temporal lobe (MTL) regions. Our study aims to compare MTL subregional volumes in SLE patients to healthy individuals (HI) and explore MTL subregional volumes in relation to neuropsychiatric SLE (NPSLE) manifestations.
View Article and Find Full Text PDFPredicting brain tumour growth patterns using a novel MRI-based tumour spread map: application to radiotherapy planning.
Med Phys
January 2025
Paul Albrechtsen Research Institute, CancerCare Manitoba, Winnipeg, Canada.
Background: The treatment of glioblastomas (GBM) with radiation therapy is extremely challenging due to their invasive nature and high recurrence rate within normal brain tissue.
Purpose: In this work, we present a new metric called the tumour spread (TS) map, which utilizes diffusion tensor imaging (DTI) to predict the probable direction of tumour cells spread along fiber tracts. We hypothesized that the TS map could serve as a predictive tool for identifying patterns of likely recurrence in patients with GBM and, therefore, be used to modify the delivery of radiation treatment to pre-emptively target regions at high risk of tumour spread.
Capsule network approach for monkeypox (CAPSMON) detection and subclassification in medical imaging system.
Sci Rep
January 2025
Department of Computer Science and Engineering, E.G.S. Pillay Engineering College, Nagapattinam, 611002, Tamil Nadu, India.
In response to the pressing need for the detection of Monkeypox caused by the Monkeypox virus (MPXV), this study introduces the Enhanced Spatial-Awareness Capsule Network (ESACN), a Capsule Network architecture designed for the precise multi-class classification of dermatological images. Addressing the shortcomings of traditional Machine Learning and Deep Learning models, our ESACN model utilizes the dynamic routing and spatial hierarchy capabilities of CapsNets to differentiate complex patterns such as those seen in monkeypox, chickenpox, measles, and normal skin presentations. CapsNets' inherent ability to recognize and process crucial spatial relationships within images outperforms conventional CNNs, particularly in tasks that require the distinction of visually similar classes.
View Article and Find Full Text PDFLongitudinal MRI evaluation of the efficacy of non-enhanced lung cancer brain metastases.
Sci Rep
January 2025
Department of Radiology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, Hubei, China.
Brain metastases (BM) are the most prevalent intracranial malignancies. Approximately 30-40% of cancer patients develop BM at some stage of their illness, presenting with a high incidence and poor prognosis. Our clinical findings indicate a significant disparity in the efficacy between non-enhanced and enhanced lung cancer BM.
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