Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.

encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental delay, lactic acidosis, and encephalopathy. Twenty-one patients have been described so far.

Completely non-invasive prediction of IDH mutation status based on preoperative native CT images.

The isocitrate dehydrogenase (IDH) mutation status is one of the most important markers according to the 2021 WHO classification of CNS tumors. Preoperatively, this information is usually obtained based on invasive biopsies, contrast-enhanced MR images or PET images generated using radioactive tracers. However, the completely non-invasive determination of IDH mutation status using routinely acquired preoperative native CT images has hardly been investigated to date.

Diagnostic value of routine CT perfusion imaging for radiology residents.

To evaluate whether incorporating CT perfusion imaging can significantly enhance diagnostic CT accuracy in stroke detection. Two 3rd-year residents (3rd of 5 years of residency) reviewed CT scans of 200 patients with suspected stroke, consisting of 104 patients with a proven stroke and a control group with 96 patients. They analyzed each patient in a blinded and randomized manner in two runs.

Distinguishing glioblastoma progression from treatment-related changes using DTI directionality growth analysis.

Background: It is difficult to distinguish between tumor progression (TP) and treatment-related abnormalities (TRA) in treated glioblastoma patients via conventional MRI, but this distinction is crucial for treatment decision making. Glioblastoma is known to exhibit an invasive growth pattern along white matter architecture and vasculature. This study quantified lesion development patterns in treated glioblastoma lesions and their relation to white matter microstructure to distinguish TP from TRA.

Clinical applicability of signal heterogeneity and tumor border assessment on T2-weighted MR images to distinguish astrocytic from oligodendroglial origin of gliomas.

Background And Purpose: Radiological features on magnetic resonance imaging (MRI) were attributed to oligodendroglioma, although the diagnostic accuracy in a real-world clinical setting remains partially elusive. This study investigated the accuracy and robustness of tumor heterogeneity and tumor border delineation on T2-weighted MRI to distinguish oligodendroglioma from astrocytoma.

Materials And Methods: Eight readers from three different specialties (radiology, neurology, neurosurgery) with varying levels of experience blindly rated 79 T2-weighted MR images of patients with either oligodendroglioma or astrocytoma.

Prediction of Seropositivity in Suspected Autoimmune Encephalitis by Use of Radiomics: A Radiological Proof-of-Concept Study.

In this study, we sought to evaluate the capabilities of radiomics and machine learning in predicting seropositivity in patients with suspected autoimmune encephalitis (AE) from MR images obtained at symptom onset. In 83 patients diagnosed with AE between 2011 and 2022, manual bilateral segmentation of the amygdala was performed on pre-contrast T2 images using 3D Slicer open-source software. Our sample of 83 patients contained 43 seropositive and 40 seronegative AE cases.

How to evaluate perfusion imaging in post-treatment glioma: a comparison of three different analysis methods.

Introduction: Dynamic susceptibility contrast (DSC) perfusion weighted (PW)-MRI can aid in differentiating treatment related abnormalities (TRA) from tumor progression (TP) in post-treatment glioma patients. Common methods, like the 'hot spot', or visual approach suffer from oversimplification and subjectivity. Using perfusion of the complete lesion potentially offers an objective and accurate alternative.

MRI-Based Radiomics as a Promising Noninvasive Diagnostic Technique for Adenomyosis.

MRI diagnostics are important for adenomyosis, especially in cases with inconclusive ultrasound. This study assessed the potential of MRI-based radiomics as a novel tool for differentiating between uteri with and without adenomyosis. This retrospective proof-of-principle single-center study included nine patients with and six patients without adenomyosis.

Comparison of MRI Sequences to Predict Mutation Status in Gliomas Using Radiomics-Based Machine Learning.

Objectives: Regarding the 2021 World Health Organization (WHO) classification of central nervous system (CNS) tumors, the isocitrate dehydrogenase () mutation status is one of the most important factors for CNS tumor classification. The aim of our study is to analyze which of the commonly used magnetic resonance imaging (MRI) sequences is best suited to obtain this information non-invasively using radiomics-based machine learning models. We developed machine learning models based on different MRI sequences and determined which of the MRI sequences analyzed yields the highest discriminatory power in predicting the mutation status.

Case-Based Collaborative Learning in Undergraduate Radiology Teaching-Are Essential Conditions for Group Discussions Met?

Background: Delivering case-based collaborative learning (cCBL) at scale using technology that both presents the clinical problem authentically and seeks to foster quality group discussion is a challenge, especially argumentation which is critical for effective learning. The aim of this study was to investigate the presence of essential conditions to capitalize on a technology-enhanced cCBL scenario for teaching radiology and facilitating quality group discussion.

Methods: A questionnaire was administered to 114 fourth-year medical students who completed a technology-enhanced cCBL scenario for teaching neuroradiology.

2-Hydroxyglutarate as an MR spectroscopic predictor of an IDH mutation in gliomas.

The mutated enzyme isocitrate dehydrogenase (IDH) 1 and 2 has been detected in various tumor entities such as gliomas and can convert α-ketoglutarate into the oncometabolite 2-hydroxyglutarate (2-HG). This neuro-oncologically significant metabolic product can be detected by MR spectroscopy and is therefore suitable for noninvasive glioma classification and therapy monitoring.This paper provides an up-to-date overview of the methodology and relevance of H-MR spectroscopy (MRS) in the oncological primary and follow-up diagnosis of gliomas.

Radiomics-Based Prediction of TERT Promotor Mutations in Intracranial High-Grade Meningiomas.

Purpose: In meningiomas, TERT promotor mutations are rare but qualify the diagnosis of anaplasia, directly impacting adjuvant therapy. Effective screening for patients at risk for promotor mutations could enable more targeted molecular analyses and improve diagnosis and treatment.

Methods: Semiautomatic segmentation of intracranial grade 2/3 meningiomas was performed on preoperative magnetic resonance imaging.

Use Test of Automated Machine Learning in Cancer Diagnostics.

Our aim is to investigate the added value of automated machine learning (AutoML) for potential future applications in cancer diagnostics. Using two important diagnostic questions, the non-invasive determination of IDH mutation status and ATRX status, we analyze whether it is possible to use AutoML to develop models that are comparable in performance to conventional machine learning models (ML) developed by experts. For this purpose, we develop AutoML models using different feature preselection methods and compare the results with previously developed conventional ML models.

Comparison of MRI Sequences to Predict ATRX Status Using Radiomics-Based Machine Learning.

ATRX is an important molecular marker according to the 2021 WHO classification of adult-type diffuse glioma. We aim to predict the ATRX mutation status non-invasively using radiomics-based machine learning models on MRI and to determine which MRI sequence is best suited for this purpose. In this retrospective study, we used MRI images of patients with histologically confirmed glioma, including the sequences T1w without and with the administration of contrast agent, T2w, and the FLAIR.

Prognosis and histology of sporadic synchronous and metachronous meningiomas and comparative analyses with singular lesions.

Synchronous or metachronous growth of multiple tumors (≥ 2) is found in up to 20% of meningioma patients. However, biological as well as histological features and prognosis are largely unexplored. Clinical and histological characteristics were retrospectively investigated in 95 patients harboring 226 multiple meningiomas (MMs) and compared with 135 cases of singular meningiomas (SM) using uni- and multivariate analyses.

Iatrogenic lumbosacral infiltration with petroleum (hydrodesulfurized heavy) with secondary intrathecal distribution-a case report.

Petroleum is commonly used as a solvent, and primary intrathecal administration or secondary diffusion and subsequent clinical management has not been reported. We report the case of a male patient with intrathecal petroleum diffusion following accidental lumbar infiltration. After the onset of secondary myeloencephalopathy with coma and tetraparesis, continuous cranio-lumbar irrigation using an external ventricular and a lumbar drain was established.

A magnetic resonance imaging based radiomics model to predict mitosis cycles in intracranial meningioma.

The aim of this study was to develop a magnetic resonance imaging (MRI) based radiomics model to predict mitosis cycles in intracranial meningioma grading prior to surgery. Preoperative contrast-enhanced T1-weighted (T1CE) cerebral MRI data of 167 meningioma patients between 2015 and 2020 were obtained, preprocessed and segmented using the 3D Slicer software and the PyRadiomics plugin. In total 145 radiomics features of the T1CE MRI images were computed.

Protoporphyrin IX (PpIX) Fluorescence during Meningioma Surgery: Correlations with Histological Findings and Expression of Heme Pathway Molecules.

Background: The usefulness of 5-ALA-mediated fluorescence-guided resection (FGR) in meningiomas is controversial, and information on the molecular background of fluorescence is sparse. Methods: Specimens obtained during 44 FGRs of intracranial meningiomas were analyzed for the presence of tumor tissue and fluorescence. Protein/mRNA expression of key transmembrane transporters/enzymes involved in PpIX metabolism (ABCB6, ABCG2, FECH, CPOX) were investigated using immunohistochemistry/qPCR.

Radiomics for pseudoprogression prediction in high grade gliomas: added value of MR contrast agent.

Objective: Our aim is to define the capabilities of radiomics in predicting pseudoprogression from pre-treatment MR images in patients diagnosed with high-grade gliomas using T1 non-contrast-enhanced and contrast-enhanced images.

Material & Methods: In this retrospective IRB-approved study, image segmentation of high-grade gliomas was semi-automatically performed using 3D Slicer. Non-contrast-enhanced T1-weighted images and contrast-enhanced T1-weighted images were used prior to surgical therapy or radio-chemotherapy.