Publications by authors named "Bogaert E"

Purpose: This study aims to accurately predict the effects of hormonal therapy on prostate cancer (PC) lesions by integrating multi-modality magnetic resonance imaging (MRI) and the clinical marker prostate-specific antigen (PSA). It addresses the limitations of Convolutional Neural Networks (CNNs) in capturing long-range spatial relations and the Vision Transformer (ViT)'s deficiency in localization information due to consecutive downsampling. The research question focuses on improving PC response prediction accuracy by combining both approaches.

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8q21.11 microdeletions encompassing the gene encoding transcription factor ZFHX4, have previously been associated by us with a syndromic form of intellectual disability, hypotonia, decreased balance and hearing loss. Here, we report on 57 individuals, 52 probands and 5 affected family members, with protein truncating variants (n=36), (micro)deletions (n=20) or an inversion (n=1) affecting with variable developmental delay and intellectual disability, distinctive facial characteristics, morphological abnormalities of the central nervous system, behavioral alterations, short stature, hypotonia, and occasionally cleft palate and anterior segment dysgenesis.

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Aims: The oropharyngeal dysphagia (OD) poses substantial health risks and affects quality of life. Patient-reported outcome measures (PROMs) are gaining prominence for their crucial role in early detection and adapting rehabilitation and management decisions. This highlights the need for culturally pertinent versions in different languages, especially when addressing conditions like OD.

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Article Synopsis
  • Neurodevelopmental disorders (NDDs) stem from brain development issues, and research identifies loss-of-function (LoF) variations in the ZFHX3 gene as a cause of syndromic intellectual disability (ID).
  • A study of 42 individuals shows that variants in ZFHX3 lead to diverse symptoms like intellectual disability, autism spectrum disorder, distinct facial features, and developmental delays.
  • ZFHX3 plays a vital role in brain development, influences gene expression related to the nervous system, and has specific DNA methylation patterns linked to its function.
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Background And Purpose: Multi-leaf collimators (MLCs) with tilted leaf sides have a complex transmission behaviour that is not easily matched by radiotherapy treatment planning systems (TPSs). We sought to develop an MLC model that can accurately match test fields and clinically relevant plans at different centres.

Materials And Methods: Two new MLC models were developed and evaluated within a research version of a commercial TPS.

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Rapid advancements in the critical care management of acute brain injuries have facilitated the survival of numerous patients who may have otherwise succumbed to their injuries. The probability of conscious recovery hinges on the extent of structural brain damage and the level of metabolic and functional cerebral impairment, which remain challenging to assess via laboratory, clinical, or functional tests. Current research settings and guidelines highlight the potential value of fluorodeoxyglucose-PET (FDG-PET) for diagnostic and prognostic purposes, emphasizing its capacity to consistently illustrate a metabolic reduction in cerebral glucose uptake across various disorders of consciousness.

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The proposed AI-based diagnostic system aims to predict the respiratory support required for COVID-19 patients by analyzing the correlation between COVID-19 lesions and the level of respiratory support provided to the patients. Computed tomography (CT) imaging will be used to analyze the three levels of respiratory support received by the patient: Level 0 (minimum support), Level 1 (non-invasive support such as soft oxygen), and Level 2 (invasive support such as mechanical ventilation). The system will begin by segmenting the COVID-19 lesions from the CT images and creating an appearance model for each lesion using a 2D, rotation-invariant, Markov-Gibbs random field (MGRF) model.

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Background And Purpose: This work reports on the results of a survey performed on the use of computed tomography (CT) imaging for motion management, surface guidance devices, and their quality assurance (QA). Additionally, it details the collected user insights regarding professional needs in CT for radiotherapy. The purpose of the survey is to understand current practice, professional needs and future directions in the field of fan-beam CT in radiation therapy (RT).

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Background And Purpose: To obtain an understanding of current practice, professional needs and future directions in the field of fan-beam CT in RT, a survey was conducted. This work presents the collected information regarding the use of CT imaging for dose calculation and structure delineation.

Materials And Methods: An online institutional survey was distributed to medical physics experts employed at Belgian and Dutch radiotherapy institutions to assess the status, challenges, and future directions of QA practices for fan-beam CT.

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Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome, as Plaat3 deficiency in mice protects against diet-induced obesity. We identified seven patients from four unrelated consanguineous families, with homozygous loss-of-function variants in PLAAT3, who presented with a lipodystrophy syndrome with loss of fat varying from partial to generalized and associated with metabolic complications, as well as variable neurological features including demyelinating neuropathy and intellectual disability.

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Background And Purpose: 4D Computed Tomography (4DCT) technology captures the location and movement of tumors and nearby organs at risk over time. In this study, a multi-institutional multi-vendor 4DCT audit was initiated to assess the accuracy of current imaging protocols.

Materials And Methods: Twelve centers, including thirteen scanners performed a 4DCT acquisition of a dynamic thorax phantom using the institution's own protocol with the in-house breathing monitoring system.

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This study aimed to develop and validate a comprehensive, reproducible and automatic 4DCT Quality Assurance (QA) workflow (QAMotion) that evaluates image accuracy across various regular and irregular breathing patterns. Volume and amplitude deviations, CT number accuracy, and spatial integrity were used as evaluation metrics. For repeatability tests, tolerances were respected with a mean CT number deviation < 10 HU, volume deviation < 2% and diameter and amplitude deviation < 2 mm except for irregular amplitude curves for which an amplitude deviation up to 6 mm was measured.

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Background And Objective: Lung cancer is an important cause of death and morbidity around the world. Two of the primary computed tomography (CT) imaging markers that can be used to differentiate malignant and benign lung nodules are the inhomogeneity of the nodules' texture and nodular morphology. The objective of this paper is to present a new model that can capture the inhomogeneity of the detected lung nodules as well as their morphology.

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Article Synopsis
  • The study aimed to evaluate the consistency of Multi-Leaf Collimators (MLCs) and their models in Treatment Planning Systems (TPSs) using standardized dynamic beam tests across different facilities.
  • Results showed minimal differences within the same MLC types, but significant discrepancies emerged between different TPS models, particularly exceeding 10% in some cases, highlighting issues with high-definition MLCs and small gap sizes.
  • The findings emphasize the need for standardization in MLC configurations across TPSs, suggesting that this standardized testing approach can enhance accuracy in radiotherapy practices and improve credentialing audits.
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Globally, renal cancer (RC) is the 10th most common cancer among men and women. The new era of artificial intelligence (AI) and radiomics have allowed the development of AI-based computer-aided diagnostic/prediction (AI-based CAD/CAP) systems, which have shown promise for the diagnosis of RC (i.e.

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Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known as ATBF1, is a zinc-finger homeodomain transcription factor involved in multiple biological processes including cell differentiation and tumorigenesis.

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  • Hereditary neurologic diseases in adults have high clinical and molecular diversity, making diagnosis challenging; this study evaluates the effectiveness of exome sequencing (ES) in diagnosing these conditions.
  • Conducted at Ghent University Hospital from 2019 to 2022, the study tested 1,411 patients using multipanel ES, focusing on various neurological disorders and analyzing genetic variants across 725 genes.
  • A molecular diagnosis was achieved in 10% of cases, with the highest success rate in ataxia patients, revealing new genetic variants and highlighting that ES is a valuable diagnostic approach for adult-onset neurologic disorders.
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Article Synopsis
  • SRSF1 is a protein that plays a crucial role in mRNA processing and is essential for proper brain development; its complete loss is fatal during embryonic stages in mice.
  • Researchers identified 17 individuals with neurodevelopmental disorders (NDD) who have specific genetic changes in the SRSF1 gene, which lead to developmental delays, intellectual disability, and other health issues.
  • Advanced analysis techniques demonstrated that most genetic variants linked to SRSF1 result in a loss of its function, causing syndromic NDD due to impaired splicing activity.
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Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-43, can cause ALS and cluster in the C-terminal prion-like domain (PrLD), where they modulate the liquid condensation and aggregation properties of the protein. TDP-43-positive inclusions are also found in rimmed vacuole myopathies, including sporadic inclusion body myositis, but myopathy-causing TDP-43 variants have not been reported.

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Acute traumatic aortic injuries are of the most lethal sequelae of penetrating thoracic injuries and require rapid detection and management. The American College of Radiology currently recommends the use of noncontrast CT, followed by computed tomography angiography (CTA) as the first-line imaging modalities when traumatic aortic injury is suspected. Direct signs of aortic injury on CTA include pseudoaneurysm, focal contour abnormality, intimal flap, intramural hematoma, an abrupt change in aortic caliber, and contrast extravasation.

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Hepatocellular carcinoma (HCC) is the most common primary hepatic neoplasm. Thanks to recent advances in computed tomography (CT) and magnetic resonance imaging (MRI), there is potential to improve detection, segmentation, discrimination from HCC mimics, and monitoring of therapeutic response. Radiomics, artificial intelligence (AI), and derived tools have already been applied in other areas of diagnostic imaging with promising results.

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Multiple lines of evidence have linked oxidative stress, tau pathology and neuronal cell cycle re-activation to Alzheimer's disease (AD). While a prevailing idea is that oxidative stress-induced neuronal cell cycle reactivation acts as an upstream trigger for pathological tau phosphorylation, others have identified tau as an inducer of cell cycle abnormalities in both mitotic and postmitotic conditions. In addition, nuclear hypophosphorylated tau has been identified as a key player in the DNA damage response to oxidative stress.

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Bladder cancer (BC) is the 10th most common cancer globally and has a high mortality rate if not detected early and treated promptly. Non-muscle-invasive BC (NMIBC) is a subclassification of BC associated with high rates of recurrence and progression. Current tools for predicting recurrence and progression on NMIBC use scoring systems based on clinical and histopathological markers.

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Background: The Agility multileaf collimator (MLC) mounted in Elekta linear accelerators features some unique design characteristics, such as large leaf thickness, eccentric curvature at the leaf tip, and defocused leaf sides ('tilting'). These characteristics offer several advantages but modeling them in treatment planning systems (TPSs) is challenging.

Purpose: The goals of this study were to investigate the challenges faced when modeling the Agility in two commercial TPSs (Monaco and RayStation) and to explore how the implemented MLC models could be improved in the future.

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Aim: To determine the association between thyroid function and the risk of developing gestational diabetes mellitus (GDM) and adverse pregnancy outcomes. Methods: This case−control study was a sub-analysis of the BEDIP-N study, in which 199 GDM women were matched for age and body mass index with 398 controls. Thyroid-stimulating hormone (TSH), free thyroxine (fT4), free triiodothyronine (fT3), and thyroid peroxidase (TPO) antibodies were measured at 6−14 weeks and 26−28 weeks during pregnancy.

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