BACKGROUND: Neurovascular conflict between the oculomotor nerve and a posterior circulation cerebral artery is a relatively frequent radiologic finding; however, it manifests minimally clinically (by slower photoreaction on the ipsilateral side). Sustained paresis of the oculomotor nerve that arose directly due to neurovascular conflict between the superior cerebral artery (SCA) and the oculomotor nerve, and resolved after microvascular decompression, is extremely rare and has not yet been published. METHODS: A 34-year-old female patient presented with an advancing ptosis and downward gaze on one side. Differential diagnostics ruled out all other causes of the oculomotor paresis. Magnetic resonance imaging showed significant compression of the oculomotor nerve by an aberrant SCA on the ipsilateral side. Neurovascular decompression performed microsurgically resulted in near complete resolution of the symptoms. RESULTS: This case report aims to present a case of a rare clinical condition caused by a generally common anatomical variation. This variation proved to be the only cause of the patient's symptoms, which resolved after microsurgical restoration of the neuroanatomy. CONCLUSIONS: Oculomotor nerve paresis caused directly by neurovascular conflict is an extremely rare diagnosis. Microvascular decompression should be considered in these cases, if other causes have been excluded.
- MeSH
- Adult MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Microvascular Decompression Surgery methods MeSH
- Cerebellum * blood supply MeSH
- Oculomotor Nerve Diseases * etiology surgery MeSH
- Oculomotor Nerve * surgery MeSH
- Paresis * etiology surgery MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
OBJECTIVES: Differentiating true progression or recurrence (TP/TR) from therapy-related changes (TRC) is complex in brain tumours. Amide proton transfer-weighted (APT) imaging is a chemical exchange saturation transfer (CEST) MRI technique that may improve diagnostic accuracy during radiological follow-up. This systematic review and meta-analysis elucidated the level of evidence and details of state-of-the-art imaging for APT-CEST in glioma and brain metastasis surveillance. METHODS: PubMed, EMBASE, Web of Science, and Cochrane Library were systematically searched for original articles about glioma and metastasis patients who received APT-CEST imaging for suspected TP/TR within 2 years after (chemo)radiotherapy completion. Modified Quality Assessment of Diagnostic Accuracy Studies-2 criteria were applied. A meta-analysis was performed to pool results and to compare subgroups. RESULTS: Fifteen studies were included for a narrative synthesis, twelve of which (500 patients) were deemed sufficiently homogeneous for a meta-analysis. Magnetisation transfer ratio asymmetry performed well in gliomas (sensitivity 0.88 [0.82-0.92], specificity 0.84 [0.72-0.91]) but not in metastases (sensitivity 0.64 [0.38-0.84], specificity 0.56 [0.33-0.77]). APT-CEST combined with conventional/advanced MRI rendered 0.92 [0.86-0.96] and 0.88 [0.72-0.95] in gliomas. Tumour type, TR prevalence, sex, and acquisition protocol were sources of significant inter-study heterogeneity in sensitivity (I2 = 62.25%; p < 0.01) and specificity (I2 = 66.31%; p < 0.001). CONCLUSION: A growing body of literature suggests that APT-CEST is a promising technique for improving the discrimination of TP/TR from TRC in gliomas, with limited data on metastases. CLINICAL RELEVANCE STATEMENT: This meta-analysis identified a utility for APT-CEST imaging regarding the non-invasive discrimination of brain tumour progression from therapy-related changes, providing a critical evaluation of sequence parameters and cut-off values, which can be used to improve response assessment and patient outcome. KEY POINTS: Therapy-related changes mimicking progression complicate brain tumour treatment. Amide proton imaging improves the non-invasive discrimination of glioma progression from therapy-related changes. Magnetisation transfer ratio asymmetry measurement seems not to have added value in brain metastases.
- MeSH
- Amides * MeSH
- Diagnosis, Differential MeSH
- Glioma * diagnostic imaging pathology MeSH
- Humans MeSH
- Neoplasm Recurrence, Local diagnostic imaging MeSH
- Magnetic Resonance Imaging * methods MeSH
- Brain Neoplasms * diagnostic imaging secondary MeSH
- Disease Progression * MeSH
- Protons MeSH
- Sensitivity and Specificity MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Meta-Analysis MeSH
- Systematic Review MeSH
BACKGROUND AND PURPOSE: Cognitive impairment (CI) in multiple sclerosis (MS) is associated with bidirectional changes in resting-state centrality measures. However, practicable functional magnetic resonance imaging (fMRI) biomarkers of CI are still lacking. The aim of this study was to assess the graph-theory-based degree rank order disruption index (kD) and its association with cognitive processing speed as a marker of CI in patients with MS (PwMS) in a secondary cross-sectional fMRI analysis. METHODS: Differentiation between PwMS and healthy controls (HCs) using kD and its correlation with CI (Symbol Digit Modalities Test) was compared to established imaging biomarkers (regional degree, volumetry, diffusion-weighted imaging, lesion mapping). Additional associations were assessed for fatigue (Fatigue Scale for Motor and Cognitive Functions), gait and global disability. RESULTS: Analysis in 56 PwMS and 58 HCs (35/27 women, median age 45.1/40.5 years) showed lower kD in PwMS than in HCs (median -0.30/-0.06, interquartile range 0.55/0.54; p = 0.009, Mann-Whitney U test), yielding acceptable yet non-superior differentiation (area under curve 0.64). kD and degree in medial prefrontal cortex (MPFC) correlated with CI (kD/MPFC Spearman's ρ = 0.32/-0.45, p = 0.019/0.001, n = 55). kD also explained fatigue (ρ = -0.34, p = 0.010, n = 56) but neither gait nor disability. CONCLUSIONS: kD is a potential biomarker of CI and fatigue warranting further validation.
- MeSH
- Adult MeSH
- Cognitive Dysfunction etiology physiopathology diagnostic imaging MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging * MeSH
- Cross-Sectional Studies MeSH
- Multiple Sclerosis * complications diagnostic imaging physiopathology MeSH
- Processing Speed MeSH
- Fatigue * physiopathology etiology diagnostic imaging MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
BACKGROUND: Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling. Muscle magnetic resonance imaging (MRI) has emerged as a valuable diagnostic tool by identifying characteristic patterns of muscle involvement. However, the increasing complexity of these patterns complicates their interpretation, limiting their clinical utility. Additionally, multi-study data aggregation introduces heterogeneity challenges. This study presents a novel multi-study harmonization pipeline for muscle MRI and an AI-driven diagnostic tool to assist clinicians in identifying disease-specific muscle involvement patterns. METHODS: We developed a preprocessing pipeline to standardize MRI fat content across datasets, minimizing source bias. An ensemble of XGBoost models was trained to classify patients based on intramuscular fat replacement, age at MRI and sex. The SHapley Additive exPlanations (SHAP) framework was adapted to analyse model predictions and identify disease-specific muscle involvement patterns. To address class imbalance, training and evaluation were conducted using class-balanced metrics. The model's performance was compared against four expert clinicians using 14 previously unseen MRI scans. RESULTS: Using our harmonization approach, we curated a dataset of 2961 MRI samples from genetically confirmed cases of 20 paediatric and adult NMDs. The model achieved a balanced accuracy of 64.8% ± 3.4%, with a weighted top-3 accuracy of 84.7% ± 1.8% and top-5 accuracy of 90.2% ± 2.4%. It also identified key features relevant for differential diagnosis, aiding clinical decision-making. Compared to four expert clinicians, the model obtained the highest top-3 accuracy (75.0% ± 4.8%). The diagnostic tool has been implemented as a free web platform, providing global access to the medical community. CONCLUSIONS: The application of AI in muscle MRI for NMD diagnosis remains underexplored due to data scarcity. This study introduces a framework for dataset harmonization, enabling advanced computational techniques. Our findings demonstrate the potential of AI-based approaches to enhance differential diagnosis by identifying disease-specific muscle involvement patterns. The developed tool surpasses expert performance in diagnostic ranking and is accessible to clinicians worldwide via the Myo-Guide online platform.
- MeSH
- Adult MeSH
- Internet MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging * methods MeSH
- Neuromuscular Diseases * diagnosis diagnostic imaging MeSH
- Machine Learning * MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Onychomatrikóm je zriedkavo popisovaným benígnym fibroepiteliálnym tumorom nechtového matrix. Autori prezentujú prípad onychomatricomu diagnostikovaného po viac ako 10 rokov trvania. Vyšetřenie magnetickou rezonanciou ukázalo typický obraz ochorenia. Terapeutická ablácia nechtovej platničky a následné histologické vyšetrenie potvrdilo predpokladanú diagnózu. Autori poskytujú současný prehľad poznatkov o tomto ochoreniu a jeho diferenciálnu diagnostiku.
Onychomatrichoma is a rarely described benign fibroepithelial tumor of the nail matrix. The authors present a case of onychomatricoma diagnosed after more than 10 years of duration. Magnetic resonance imaging showed a typical picture of the disease. Therapeutic ablation of the nail plate and subsequent histological examination confirmed the suspected diagnosis. The authors provide a current overview of knowledge about this disease and its differential diagnosis.
- Keywords
- onychomatricoma,
- MeSH
- Ablation Techniques MeSH
- Neoplasms, Fibroepithelial surgery diagnosis MeSH
- Immunohistochemistry MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Skin Neoplasms surgery diagnosis pathology MeSH
- Nail Diseases * surgery diagnosis etiology MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
Nazolabiální cysta (NC), známá také jako Klestadtova cysta, je vzácná neodontogenní cystická leze měkkých tkání maxilofaciální oblasti, která predominantně postihuje ženy ve středním věku. Typicky bývá asymptomatická, může ale způsobovat otok v nazolabiální oblasti nebo nosní obturaci. Prezentované kazuistiky popisují případy dvou pacientek, kterým byla NC diagnostikována, ale každá podstoupila jiný typ operačního výkonu, nicméně s dobrým klinickým výsledkem v obou případech, kdy jsou obě bez obtíží a recidivy. Léze byla poprvé popsána v roce 1882 a později zkoumána Walterem Klestadtem v roce 1953. Diagnóza se obvykle provádí pomocí CT a MR, s chirurgickou excizí jako preferovanou metodou léčby. Recidiva po operaci je vzácná a prognóza velmi příznivá.
Nasolabial cyst (NC), also known as Klestadt‘s cyst, a is a rare non-odontogenic cystic lesion of the soft tissues in the maxillofacial area, predominantly affecting middle-aged women. It typically presents asymptomatically but can cause swelling in the nasolabial region or nasal obstruction. Case reports describe two patients diagnosed with NC who underwent different types of surgical procedures, both resulting in good clinical outcomes, with both patients remaining symptom-free and without recurrence. The lesion was first described in 1882 and later studied by Walter Klestadt in 1953. Dia gnosis is typically performed using CT and MRI, with surgical excision being the preferred method of treatment. Recurrence after surgery is rare, and the prognosis is very favourable.
- Keywords
- Klestadtova cysta,
- MeSH
- Cysts surgery diagnosis classification MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Nonodontogenic Cysts * surgery diagnostic imaging diagnosis classification MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Nasal Obstruction diagnosis etiology MeSH
- Otorhinolaryngologic Surgical Procedures methods MeSH
- Tomography, X-Ray Computed methods MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
The perception of a voice in the absence of an external auditory source-an auditory verbal hallucination-is a characteristic symptom of schizophrenia. To better understand this phenomenon requires integration of findings across behavioural, functional, and neurochemical levels. We address this with a locally adapted MEGA-PRESS sequence incorporating interleaved unsuppressed water acquisitions, allowing concurrent assessment of behaviour, blood-oxygenation-level-dependent (BOLD) functional changes, Glutamate + Glutamine (Glx), and GABA, synchronised with a cognitive (flanker) task. We acquired data from the anterior cingulate cortex (ACC) of 51 patients with psychosis (predominantly schizophrenia spectrum disorder) and hallucinations, matched to healthy controls. Consistent with the notion of an excitatory/inhibitory imbalance, we hypothesized differential effects for Glx and GABA between groups, and aberrant dynamics in response to task. Results showed impaired task performance, lower baseline Glx and positive association between Glx and BOLD in patients, contrasting a negative correlation in healthy controls. Task-related increases in Glx were observed in both groups, with no significant difference between groups. No significant effects were observed for GABA. These findings suggest that a putative excitatory/inhibitory imbalance affecting inhibitory control in the ACC is primarily observed as tonic, baseline glutamate differences, rather than GABAergic effects or aberrant dynamics in relation to a task.
- MeSH
- Gyrus Cinguli metabolism physiopathology MeSH
- Adult MeSH
- gamma-Aminobutyric Acid * metabolism MeSH
- Glutamine metabolism MeSH
- Hallucinations * metabolism physiopathology MeSH
- Cognition * physiology MeSH
- Glutamic Acid * metabolism MeSH
- Middle Aged MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Young Adult MeSH
- Psychotic Disorders * metabolism physiopathology MeSH
- Case-Control Studies MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
In the presented study, the cells of the glacial alga Ancylonema alaskanum collected in the Austrian Alps were analyzed. Algae were imaged both in their natural environment and in laboratory conditions using transmitted light and fluorescence microscopy. Using appropriate fluorochromes, the cell wall and cell organelles were studied. Oval nuclei located in the middle of the cell next to the chloroplasts and active mitochondria as well as lipid thylakoids of chloroplasts were imaged. Scanning electron microscopy showed that the surface of the algal cell wall was not significantly differentiated, and atomic force microscope imaging recorded little roughness. The SEM EDS analysis revealed that carbon, nitrogen, oxygen, and magnesium were the main components of the cells. It is worth emphasizing that the analyzed living algal cells were obtained directly from the glacier surface and demonstrated normal respiratory processes i.e. undisturbed physiological functions. Additionally, the mineral material accompanying the cells in their natural environment - fragments of the rock were imaged by Differential Interference Contrast microscopy and analyzed by Fourier Transform Infrared Spectroscopy. The study provides new data on the morphology and physicochemical characteristics of A. alaskanum, contributing to a more comprehensive characterization of their place in this harsh ecosystem.
- MeSH
- Ice Cover * MeSH
- Microscopy, Electron, Scanning MeSH
- Spectroscopy, Fourier Transform Infrared MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Austria MeSH
Anderson-Fabry disease (AFD) is a rare genetic disease with X-linked transmission characterized by a defect in the enzyme alpha-galactosidase A, which impairs glycosphingolipid metabolism and leads to an excessive storage of globotriaosylceramide (Gb3) within lysosomes. AFD involves renal, cardiac, vascular, and nervous systems and is mainly observed in male patients with onset in childhood, although cardiac manifestation is often shown in adults. AFD cardiomyopathy is caused by the accumulation of Gb3 within myocytes first showed by left ventricular hypertrophy and diastolic dysfunction, leading to restrictive cardiomyopathy and systolic heart failure with biventricular involvement. The diagnosis of AFD cardiomyopathy may be insidious in the first stages and requires accurate differential diagnosis with other cardiomyopathies with hypertrophic phenotype. However, it is fundamental to promptly initiate specific therapies that have shown promising results, particularly for early treatment. A careful integration between clinical evaluation, genetic tests, and cardiac imaging is required to diagnose AFD with cardiac involvement. Basic and advanced echocardiography, cardiac magnetic resonance, and nuclear imaging may offer pivotal information for early diagnosis (Graphical Abstract), and the management of these patients is often limited to centres with high expertise in the field. This clinical consensus statement, developed by experts from the European Society of Cardiology (ESC) Working Group on Myocardial and Pericardial Diseases and the European Association of Cardiovascular Imaging of the ESC, aims to provide practical advice for all clinicians regarding the use of multimodality imaging to simplify the diagnostic evaluation, prognostic stratification, and management of cardiac involvement in AFD.
- MeSH
- Early Diagnosis MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Adult MeSH
- Echocardiography methods standards MeSH
- Fabry Disease * diagnostic imaging therapy MeSH
- Consensus MeSH
- Humans MeSH
- Multimodal Imaging * methods standards MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Consensus Development Conference MeSH
Představujeme kazuistiku 34leté pacientky, heterozygotky Leidenské mutace, postižené autozomálně dominantní polycystickou chorobou ledvin (AD PCKD), přijaté pro náhle vzniklé symptomy netraumatické inkompletní transverzální míšní léze v úrovni Th4-5. Vstupní zobrazení mozku a celé míchy magnetickou rezonancí (MR) neprokázalo žádné ložiskové změny. Pomocí CT angiografie jsme vyloučili disekci aorty. V likvoru byl normální nález. Třetího dne se na kontrolní MR hrudní míchy vykreslilo ložisko myelopatie přibližně v úrovni Th5. Pátého dne bylo toto ložisko již bez podstatného vývoje. Dle klinického průběhu a výsledků komplementárních vyšetření jsme stav hodnotili jako míšní ischemii. Doplněná transezofageální echokardiografie a bubble test prokázaly high‐grade permanentní pravo-levý zkrat při otevřeném foramen ovale (FOP). Další laboratorní a zobrazovací vyšetření k objasnění etiologie byla negativní. Byla indikována okluze FOP. Pacientka rehabilitovala a její zdravotní stav se postupně zlepšoval.
We present a case report of a 34-year-old female patient, heterozygote f.V Leiden, affected by autosomal dominant polycystic kidney disease (AD PCKD), admitted for sudden onset of symptoms of a non-traumatic incomplete transverse spinal cord lesion at the Th4-5 level. Initial magnetic resonance (MR) imaging of the brain and whole spinal cord showed no focal changes. CT angiography was used to exclude aortic dissection. The CSF showed normal findings. On the third day, a follow-up MRI of the thoracic spinal cord showed a focus of myelopathy at approximately Th5 level. On the fifth day, this lesion was no longer significantly developed. We assessed the condition as spinal cord ischemia based on the clinical course and the results of complementary examinations. The supplementary transesophageal echocardiography and bubble test revealed a high-grade, permanent right-to-left shunt with a patent foramen ovale (FOP). Further laboratory and imaging investigations to clarify the aetiology of spinal cord infractions were negative. FOP occlusion was indicated. The patient was rehabilitated and her condition gradually improved.
- MeSH
- Diagnosis, Differential MeSH
- Adult MeSH
- Foramen Ovale, Patent diagnosis complications MeSH
- Humans MeSH
- Magnetic Resonance Imaging methods MeSH
- Spinal Cord Ischemia * diagnosis etiology classification rehabilitation MeSH
- Polycystic Kidney, Autosomal Dominant diagnosis MeSH
- Prednisone pharmacology therapeutic use MeSH
- Pregabalin pharmacology therapeutic use MeSH
- Thrombophilia diagnosis genetics complications MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH