Rosette-forming glioneuronal tumors (RGNTs) with FGFR1 tyrosine kinase domain internal tandem duplication (FGFR1 ITD) is exceedingly rare, with only a few cases reported in the literature. Hereby we present a case of a tumor with RGNT morphology occurring in area of septum pellucidum of 43-year-old male. The tumor showed FGFR1 ITD, no PIK3CA, PIK3R1 or NF1 alterations and inconclusive methylation profile with match for class of "low-grade glial/glioneuronal/neuroepithelial tumors". No areas characteristic of dysembryoplastic neuroepithelial tumor were identified. A brief review of literature on discrepancies between morphological diagnosis of RGNT and molecular profile of the entity is provided.

• MeSH
• Adult MeSH
• Humans MeSH
• Brain Neoplasms * pathology   genetics   MeSH
• Neoplasms, Neuroepithelial * pathology   genetics   MeSH
• Receptor, Fibroblast Growth Factor, Type 1 * genetics   MeSH
• Tandem Repeat Sequences MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

BACKGROUND: Open surgery is widely regarded as the standard treatment for spinal dural arteriovenous fistulas (SDAVFs). However, endovascular treatment (EVT) with liquid embolic agents has emerged as an alternative. While N-butyl cyanoacrylate is often preferred for its superior penetration into draining vein, this study aims to assess the effectiveness of an embolization-first strategy using Onyx, drawing on 20 years of clinical experience. METHODS: A retrospective analysis included 50 patients treated between 2004 and 2024. Only patients undergoing EVT as the first-line therapy for SDAVF were included. RESULTS: Overall, EVT achieved complete occlusion in 38 (76%) cases, with an additional 6 (12%) requiring adjuvant surgery resulting in definitive cure. In the remaining 6 (12%) patients, embolization of the feeding artery and fistula nidus led to permanent clinical improvement (n = 4, 66%) or stability (n = 2, 33%), supported by indirect fistula signs regression on follow-up magnetic resonance imaging. Onyx was solely used in 84% of EVTs, achieving a complete occlusion rate of 83%. Clinical improvement or stabilization was observed in 46 (92%) patients, with no recurrences in successfully treated patients. There was no EVT-related complication. Follow-up magnetic resonance imagings showed regression of perimedullary varices and regression or stability of myelopathy in all cases (n = 50, 100%). CONCLUSIONS: The embolization-first strategy, with adjuvant surgery when necessary, can achieve outcomes nearing those of purely surgical approaches. Based on our long-term experience, EVT with Onyx can result in complete and permanent cure of SDAVF in more than 80% of cases.

• MeSH
• Central Nervous System Vascular Malformations * therapy   diagnostic imaging   MeSH
• Dimethyl Sulfoxide * therapeutic use   MeSH
• Adult MeSH
• Endovascular Procedures methods   MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Polyvinyls * therapeutic use   MeSH
• Retrospective Studies MeSH
• Aged MeSH
• Tantalum * therapeutic use   MeSH
• Embolization, Therapeutic * methods   MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

BACKGROUND AND PURPOSE: White matter changes assessed by DTI typically reflect tract functionality. This study aimed to investigate DTI parameter alterations in important regions pre- and postshunt implantation in patients with idiopathic normal pressure hydrocephalus (iNPH), alongside assessing the relationship between DTI parameters and clinical improvement. MATERIALS AND METHODS: Patients with probable iNPH underwent prospective preoperative MRI and comprehensive clinical work-up between 2017-2022. Patients with clinical symptoms of iNPH, positive result on a lumbar infusion test, and/or gait improvement after 120-hour lumbar drainage were diagnosed with iNPH and underwent shunt-placement surgery. Fractional anisotropy and mean diffusivity values for individual regions of interest were extracted from preoperative and postoperative MRI. These values were correlated with the clinical picture of individual patients. RESULTS: A total of 32 patients (73.59 ± 4.59 years) with definite iNPH were analyzed. Preoperative DTI characteristics of internal capsule and corona radiata correlated with the 1-year improvement in the Dutch Gait Scale postoperatively (all P < .036). Cognitive domain improvement after surgery in memory and psychomotor speed correlated with preoperative DTI values of cingulate gyrus (P = .050), uncinate fasciculus (P = .029), superior longitudinal fasciculus (P = .020), or corpus callosum (P < .045). CONCLUSIONS: DTI characteristics of white matter regions reflect clinical improvement after shunt surgery in patients with iNPH. They tend to improve toward physiologic DTI values, thus further accentuating the benefit of shunt surgery in both clinical and radiologic pictures.

• MeSH
• Anisotropy MeSH
• White Matter diagnostic imaging   MeSH
• Middle Aged MeSH
• Humans MeSH
• Hydrocephalus, Normal Pressure * surgery   diagnostic imaging   MeSH
• Prospective Studies MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Cerebrospinal Fluid Shunts * MeSH
• Treatment Outcome MeSH
• Diffusion Tensor Imaging * methods   MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

OBJECTIVE: To evaluate the effectiveness and safety of sonolysis using a low intensity 2 MHz pulsed wave ultrasound beam during carotid endarterectomy. DESIGN: Multicentre, phase 3, double blind, randomised controlled trial. SETTING: 16 European centres. PARTICIPANTS: 1004 patients (mean age 68 years; 312 (31%) female) were enrolled in the study between 20 August 2015 and 14 October 2020 until the interim analysis was performed. INTERVENTIONS: Sonolysis (n=507) versus sham procedure (n=497). MAIN OUTCOME MEASURES: The primary endpoint was the composite incidence of ischaemic stroke, transient ischaemic attack, and death within 30 days. The incidence of new ischaemic lesions on follow-up brain magnetic resonance imaging was the main substudy endpoint, and incidence of intracranial bleeding was the main safety endpoint. RESULTS: The results favoured the sonolysis group for the primary endpoint (11 (2.2%) v 38 (7.6%); risk difference -5.5%, 95% confidence interval (CI) -8.3% to -2.8%; P<0.001), as well as in the substudy for magnetic resonance imaging detected new ischaemic lesions (20/236 (8.5%) v 39/224 (17.4%); risk difference -8.9%, -15% to -2.8%; P=0.004). Sensitivity analysis resulted in a risk ratio for sonolysis of 0.25 (95% CI 0.11 to 0.56) for ischaemic stroke and 0.23 (0.07 to 0.73) for transient ischaemic attack within 30 days. Sonolysis was found to be safe, and 94.4% of patients in the sonolysis group were free from serious adverse events 30 days after the procedure. CONCLUSION: Sonolysis was safe for patients undergoing carotid endarterectomy and resulted in a significant reduction in the composite incidence of ischaemic stroke, transient ischaemic attack, and death within 30 days. TRIAL REGISTRATION: Clinicaltrials.gov NCT02398734.

• MeSH
• Double-Blind Method MeSH
• Ischemic Stroke prevention & control   epidemiology   MeSH
• Endarterectomy, Carotid * adverse effects   methods   MeSH
• Middle Aged MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Aged MeSH
• Carotid Stenosis surgery   MeSH
• Ischemic Attack, Transient * prevention & control   etiology   MeSH
• Ultrasonic Therapy methods   adverse effects   MeSH
• Treatment Outcome MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Clinical Trial, Phase III MeSH
• Multicenter Study MeSH
• Randomized Controlled Trial MeSH

BACKGROUND: Glioblastoma is the commonest malignant brain tumor and has a very poor prognosis. Reduced expression of the MGMT gene (10q26.3), influenced primarily by the methylation of two differentially methylated regions (DMR1 and DMR2), is associated with a good response to temozolomide treatment. However, suitable methods for detecting the methylation of the MGMT gene promoter and setting appropriate cutoff values are debated. RESULTS: A cohort of 108 patients with histologically and genetically defined glioblastoma was retrospectively examined with methylation-specific Sanger sequencing (sSeq) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) methods. The DMR2 region was methylated in 29% of samples, whereas DMR1 was methylated in 12% of samples. Methylation detected with the MS-MLPA method using probes MGMT_215, MGMT_190, and MGMT_124 from the ME012-A1 kit (located in DMR1 and DMR2) correlated with the methylation of the corresponding CpG dinucleotides detected with sSeq (p = 0.005 for probe MGMT_215; p < 0.001 for probe MGMT_190; p = 0.016 for probe MGMT_124). The threshold for methylation detection with the MS-MLPA method was calculated with a ROC curve analysis and principal components analysis of the data obtained with the MS-MLPA and sSeq methods, yielding a weighted value of 0.362. Thus, methylation of the MGMT gene promoter was confirmed in 36% of samples. These patients had statistically significantly better overall survival (p = 0.003). CONCLUSIONS: Our results show that the threshold for methylation detection with the MS-MLPA method determined here is useful from a diagnostic perspective because it allows the stratification of patients who will benefit from specific treatment protocols, including temozolomide. Detailed analysis of the MGMT gene promoter enables the more-precise and personalized treatment of patients with glioblastoma.

• MeSH
• CpG Islands genetics   MeSH
• DNA Modification Methylases * genetics   MeSH
• Adult MeSH
• DNA Repair Enzymes * genetics   MeSH
• Glioblastoma * genetics   drug therapy   MeSH
• Middle Aged MeSH
• Humans MeSH
• DNA Methylation * genetics   MeSH
• Tumor Suppressor Proteins * genetics   MeSH
• Brain Neoplasms * genetics   MeSH
• Promoter Regions, Genetic * genetics   MeSH
• Retrospective Studies MeSH
• Sequence Analysis, DNA methods   MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Temozolomide therapeutic use   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Comparative Study MeSH
• Validation Study MeSH

The histological grade is crucial for therapeutic management, and its reliable preoperative detection can significantly influence treatment approach. Lacking established risk factors, this study identifies preoperative predictors of high-grade skull base meningiomas and discusses the implications of non-invasive detection. A multicentric study was conducted on 552 patients with skull base meningiomas who underwent primary surgical resection between 2014 and 2019. Data were gathered from clinical, surgical and pathology records and radiological diagnostics. The predictive factors of higher WHO grade were analysed in univariate analysis and multivariate stepwise selection logistic regression analysis. Histological analysis revealed 511 grade 1 (92.6%) and 41 grade 2 (7.4%) meningiomas. A prognostic model predicting the probability of WHO grade 2 skull base meningioma (AUC 0.79; SE 0.04; 95% Wald Confidence Limits (0.71; 0.86)) based on meningioma diameter, presence of an arachnoid plane and cranial nerve palsy was built. Accurate preoperative detection of WHO grade in skull base meningiomas is essential for effective treatment planning. Our logistic regression model, based on diameter, cranial nerve palsy, and arachnoid plane, is tailored for detecting WHO grade 2 skull base meningiomas, even in outpatient settings.

• MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Meningeal Neoplasms * pathology   surgery   diagnostic imaging   MeSH
• Meningioma * pathology   surgery   diagnostic imaging   MeSH
• Young Adult MeSH
• Skull Base Neoplasms * pathology   surgery   diagnostic imaging   MeSH
• Prognosis MeSH
• Retrospective Studies MeSH
• Risk Factors MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Neoplasm Grading * MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Research Support, Non-U.S. Gov't MeSH

BACKGROUND AND PURPOSE: Diffuse gliomas, a heterogeneous group of primary brain tumors, have traditionally been stratified by histology, but recent insights into their molecular features, especially the IDH mutation status, have fundamentally changed their classification and prognosis. Current diagnostic methods, still predominantly relying on invasive biopsy, necessitate the exploration of noninvasive imaging alternatives for glioma characterization. MATERIALS AND METHODS: In this prospective study, we investigated the utility of the spherical mean technique (SMT) in predicting the IDH status and histologic grade of adult-type diffuse gliomas. Patients with histologically confirmed adult-type diffuse glioma underwent a multiparametric MRI examination using a 3T system, which included a multishell diffusion sequence. Advanced diffusion parameters were obtained using SMT, diffusional kurtosis imaging, and ADC modeling. The diagnostic performance of studied parameters was evaluated by plotting receiver operating characteristic curves with associated area under curve, specificity, and sensitivity values. RESULTS: A total of 80 patients with a mean age of 48 (SD, 16) years were included in the study. SMT metrics, particularly microscopic fractional anisotropy (μFA), intraneurite voxel fraction, and μFA to the third power (μFA3), demonstrated strong diagnostic performance (all AUC = 0.905, 95% CI, 0.835-0.976; P < .001) in determining IDH status and compared favorably with diffusional kurtosis imaging and ADC models. These parameters also showed a strong predictive capability for tumor grade, with intraneurite voxel fraction and μFA achieving the highest diagnostic accuracy (AUC = 0.937, 95% CI, 0.880-0.993; P < .001). Control analyses on normal-appearing brain tissue confirmed the specificity of these metrics for tumor tissue. CONCLUSIONS: Our study highlights the potential of SMT for noninvasive characterization of adult-type diffuse gliomas, with a potential to predict IDH status and tumor grade more accurately than traditional ADC metrics. SMT offers a promising addition to the current diagnostic toolkit, enabling more precise preoperative assessments and contributing to personalized treatment planning.

• MeSH
• Diffusion Magnetic Resonance Imaging methods   MeSH
• Adult MeSH
• Glioma * diagnostic imaging   pathology   MeSH
• Isocitrate Dehydrogenase * genetics   MeSH
• Middle Aged MeSH
• Humans MeSH
• Magnetic Resonance Imaging methods   MeSH
• Mutation MeSH
• Brain Neoplasms * diagnostic imaging   pathology   MeSH
• Prospective Studies MeSH
• Aged MeSH
• Sensitivity and Specificity MeSH
• Neoplasm Grading MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

BACKGROUND: Carotid plaque composition plays a key role in plaque stability and patient risk stratification. Of unstable plaque features, intraplaque hemorrhage (IPH) is considered the main risk factor for stroke development. AIMS: We aimed to assess an association between the presence of IPH and other plaque characteristics detectable by computed tomography (CT) or magnetic resonance imaging (MRI) and stroke. MATERIAL AND METHODS: Of all consecutive patients from the ANTIQUE study, 132 (91 males; aged 70.0 [8.6] years) with 59 symptomatic and 157 asymptomatic stable carotid plaques were included in the retrospective analysis of prospectively collected data. Plaques in the vascular territory of ischemic stroke within 90 days were classified as symptomatic and were diagnosed by CT and MRI after symptoms occurred. Plaques without progression and clinical infarction were classified as asymptomatic stable. Univariate and multivariate logistic regression analyses were performed to identify risk factors. RESULTS: The presence, age, location, and volume of IPH were not related to stroke risk (P >0.05). Patients with symptomatic plaque were more likely to consume alcohol (P = 0.005), had more severe stenosis (CT median: 80% vs. 72%; P = 0.005; MRI median: 79% vs. 72%; P = 0.01), lower American Heart Association grade (P = 0.03), and more frequent lipid plaque (89.8% vs. 76.4%; P = 0.04) compared to patients with asymptomatic stable plaques. Stenosis severity (odds ratio [OR], 1.037; 95% CI, 1.015-1.059) and additionally alcohol consumption (OR, 3.571; 95% CI, 1.694-7.527) were found to be the only significant predictors of a recent stroke. CONCLUSIONS: In this cohort, no IPH or other plaque characteristics were associated with stroke risk. The degree of stenosis and alcohol consumption were the only factors associated with ipsilateral stroke. Larger prospective studies considering plaque characteristics are needed.

• MeSH
• Plaque, Atherosclerotic * diagnostic imaging   complications   MeSH
• Stroke * etiology   diagnostic imaging   MeSH
• Middle Aged MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Tomography, X-Ray Computed MeSH
• Retrospective Studies MeSH
• Risk Factors MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Carotid Stenosis * diagnostic imaging   complications   MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Glioblastoma is the commonest primary malignant brain tumor, with a very poor prognosis and short overall survival. It is characterized by its high intra- and intertumoral heterogeneity, in terms of both the level of single-nucleotide variants, copy number alterations, and aneuploidy. Therefore, routine diagnosis can be challenging in some cases. We present a complicated case of glioblastoma, which was characterized with five cytogenomic methods: interphase fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, comparative genomic hybridization array and single-nucleotide polymorphism, targeted gene panel, and whole-genome sequencing. These cytogenomic methods revealed classical findings associated with glioblastoma, such as a lack of IDH and TERT mutations, gain of chromosome 7, and loss of chromosome 10. At least three pathological clones were identified, including one with whole-genome duplication, and one with loss of 1p and suspected loss of 19q. Deletion and mutation of the TP53 gene were detected with numerous breakends on 17p and 20q. Based on these findings, we recommend a combined approach to the diagnosis of glioblastoma involving the detection of copy number alterations, mutations, and aneuploidy. The choice of the best combination of methods is based on cost, time required, staff expertise, and laboratory equipment. This integrated strategy could contribute directly to tangible improvements in the diagnosis, prognosis, and prediction of the therapeutic responses of patients with brain tumors.

• MeSH
• Glioblastoma * genetics   pathology   diagnosis   MeSH
• In Situ Hybridization, Fluorescence methods   MeSH
• Polymorphism, Single Nucleotide MeSH
• Middle Aged MeSH
• Humans MeSH
• Mutation MeSH
• Biomarkers, Tumor genetics   MeSH
• Brain Neoplasms * genetics   pathology   diagnosis   MeSH
• Prognosis MeSH
• Comparative Genomic Hybridization methods   MeSH
• DNA Copy Number Variations MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

Cílem karotické endarterektomie je prevence ischemické cévní mozkové příhody, jedné z nejčastějších příčin trvalého postižení či úmrtí ve vyspělých zemích. Současná indikační doporučení jsou založena dominantně na hodnocení stupně stenózy způsobené aterosklerotickým plátem. Přestože je známo, že charakter plátu může souviset s jeho rizikem klinické symptomatologie, zatím není vyjádřen v současných doporučeních American Heart Association (AHA). Na vývoj a charakter plátu má nejspíše velký význam hemodynamika v karotickém řečišti. Cílem našeho projektu je popsat vztah mezi hemodynamickými parametry a charakterem karotického plátu. Správnost našich matematických kalkulací chceme potvrdit pomocí laboratorních modelů karotických stenóz. Vizí našeho projektu je získat nástroj, který by dokázal včas diferencovat rizikové pláty od těch méně rizikových a poskytl možnost časné intervence před rozvojem klinické symptomatologie a tím zefektivnil význam preventivních opatření, jakým je karotické endarterektomie.; The goal of carotid endarterectomy is prevention of ischemic stroke, one of the most common causes of morbidity or mortality in developed countries. The current indication criteria are primarily based on the grade of stenosis caused by the atherosclerotic plaque. Even though it is known that the character of atherosclerotic plaque may be associated with the risk of clinical symptoms, this parameter is not expressed in the recommendations of the American Heart Association (AHA). The development and the character or the plaque are probably influenced by the hemodynamics in the carotid arteries. The goal of our project is to describe the relationship between the hemodynamic parameters and the character of the plaque. The mathematical calculations will be verified with laboratory modelling. The vision of our project is to obtain a tool that would help in early differentiation between risky and less risky plaques and provide the possibility of early intervention before the onset of clinical symptomatology thus making the preventive measures, such as carotid endarterectomy, more effective.

• Keywords
• Iktus;, Hemodynamika;, Stenóza karotidy;, Nestabilní aterosklarotický plát;, Stroke;, Hemodynamics;, Carotid stenosis;, Unstable atherosclerotic plaque;,

• NML Publication type
• závěrečné zprávy o řešení grantu AZV MZ ČR