Search Results (28)

Optic pathway glioma (OPG) is a rare pediatric low-grade glioma, frequently associated with neurofibromatosis type 1 (NF–1), that presents unique therapeutic challenges due to its anatomical location and its potential to impair vision, endocrine function, and developmental trajectories. Current clinical management prioritizes a multidisciplinary, patient-specific approach aimed at tumor control while preserving long-term quality of life. Strategies vary based on clinical presentation, ranging from observation in asymptomatic cases to chemotherapy for progressive or symptomatic tumors. Surgical and radiation options are limited due to potential risks and complications. In recent years, advances in molecular characterization have guided the development of targeted therapies, particularly MEK inhibitors, which demonstrate encouraging efficacy and reduced toxicity profiles. In parallel, investigational therapies including immunotherapy and precision medicine-based approaches are under clinical evaluation. This review provides a synthesis of current standard practices, emerging targeted treatments, and ongoing clinical trials, drawing on relevant literature and expert consensus to inform clinicians and families about available therapeutic options. Literature discussed in this review was identified through a non-systematic search of published articles, clinical trial registries, and authoritative guidelines, with selection based on relevance, clinical significance, and contribution to understanding current and emerging management strategies for OPG. Full article

Background/Objectives: Olfactory impairment has been proposed as an early marker for Alzheimer’s disease (AD), yet the mechanisms linking sensory decline to genetic and environmental risk factors remain unclear. We aimed to identify early biomarkers and brain network alterations associated with AD risk by multimodal analyses in humanized APOE mice. Methods: We evaluated olfactory behavior, diffusion MRI connectomics, and brain and blood transcriptomics in mice stratified by APOE2, APOE3, and APOE4 genotypes, age, sex, high-fat diet, and immune background (HN). Behavioral assays assessed odor salience, novelty detection, and memory. Elastic Net-regularized multi-set canonical correlation analysis (MCCA) was used to link behavior to brain connectivity. Blood transcriptomics and gene ontology analyses identified peripheral molecular correlates. Results: APOE4 mice exhibited accelerated deficits in odor-guided behavior and memory, especially under high-fat diet, while APOE2 mice were more resilient (ANOVA: APOE x HN, F(2, 1669) = 77.25, p < 0.001, eta squared = 0.08). Age and diet compounded behavioral impairments (diet x age: F(1, 1669) = 16.04, p < 0.001). Long-term memory was particularly reduced in APOE4 mice (APOE x HN, F(2,395) = 5.6, p = 0.004). MCCA identified subnetworks explaining up to 24% of behavioral variance (sum of canonical correlations: 1.27, 95% CI [1.18, 1.85], p < 0.0001), with key connections involving the ventral orbital and somatosensory cortices. Blood eigengene modules correlated with imaging changes (e.g., subiculum diffusivity: r = −0.5, p < 1 × 10⁻³⁰), and enriched synaptic pathways were identified across brain and blood. Conclusions: Olfactory behavior, shaped by genetic and environmental factors, may serve as a sensitive, translatable biomarker of AD risk. Integrative systems-level approaches reveal brain and blood signatures of early sensory–cognitive vulnerability, supporting new avenues for early detection and intervention in AD. Full article

The quality of life (QoL) perception has been studied in neurological diseases; however, there is limited information linking brain morphological characteristics, QoL, and cognition. Human behavior and perception are associated with specific brain areas that interact through diffuse electrochemical networking. We used magnetic resonance imaging (MRI) to analyze the brain region volume (BRV) correlation with the scores of Rand’s 36-item Short Form Survey (SF-36) and cognitive domains (memory and dementia status). We analyzed data from 420 adult participants in the Maracaibo Aging Study (MAS). Principal component analysis with oblimin axis rotation was used to gather redundant information from brain parcels and SF-36 domains. Canonical correlation was used to analyze the relationships between SF-36 domains and BRV (adjusted for intracranial cavity), as well as sex, age, education, obesity, and hypertension. The average age (±SD) of subjects was 56 ± 11.5 years; 71% were female; 39% were obese; 12% had diabetes, 52% hypertension, and 7% dementia. No sex-related differences were found in memory and orientation scores, but women had lower QoL scores. The 1st and 2nd canonical correlation roots support the association of SF-36 domains (except social functioning and role emotional) and total brain volume, frontal lobe volume, frontal pole, lateral orbital lobe, cerebellar, and entorhinal areas. Other variables, including age, dementia, memory score, and systolic blood pressure, had a significant influence. The results of this study demonstrate significant correlations between BRV and SF-36 components, adjusted for covariates. The frontal lobe and insula were associated with the mental health component; the lateral-orbital frontal lobe and entorhinal area were correlated with the physical component. Full article

Background/Objectives: Advancements in biomedical imaging technologies over the past few decades have made it increasingly possible to measure the long-term effects of exercise on the central nervous system. This study aims to compare the brain morphology and functional connectivity of wrestlers and handball players, exploring sport-specific neural adaptations. Methods: Here, we examined 26 elite male athletes (13 wrestlers and 13 handball players) using anatomical and resting-state functional magnetic resonance imaging (fMRI) measurements. Connectivity maps are derived using the seed-based correlation analysis of resting-state fMRI, while voxel-based morphometry (VBM) is employed to identify anatomical differences. Additionally, the cortical thickness and global volumetric values of the segmented images are examined to determine the distinctions between elite wrestlers and handball players using non-parametric statistical tests. Results: Wrestlers exhibited greater grey matter volume (GMV) in the right middle temporal gyrus, left middle frontal gyrus, and right posterior cingulate gyrus (uncorr., p < 0.001). On the other hand, wrestlers showed increased functional connectivity in the left superior temporal gyrus, left parahippocampal gyrus, the left anterior orbital gyrus, and right superior frontal gyrus–medial frontal region (P(_FWE) < 0.05). In addition, wrestlers showed greater cortical thickness in several brain regions. Conclusions: The increased GMV, cortical thickness, and functional connectivity observed in wrestlers highlight the presence of sport-specific neural adaptations. While this research provides valuable insights into the neuroplastic effects of various athletic disciplines, further studies involving additional sports and control groups are needed for a more comprehensive understanding. Full article

Brain connectivity represents the functional organization of the brain, which is an important indicator for evaluating neuropsychiatric disorders and treatment effects. Schizophrenia is associated with impaired functional connectivity but characterizing the complex abnormality patterns has been challenging. In this work, we used resting-state functional magnetic resonance imaging (fMRI) data to measure functional connectivity between 55 schizophrenia patients and 63 healthy controls across 246 regions of interest (ROIs) and extracted the disease-related connectivity patterns using energy landscape (EL) analysis. EL analysis captures the complexity of brain function in schizophrenia by focusing on functional brain state stability and region-specific dynamics. Age, sex, and smoker demographics between patients and controls were not significantly different. However, significant patient and control differences were found for the brief psychiatric rating scale (BPRS), auditory perceptual trait and state (APTS), visual perceptual trait and state (VPTS), working memory score, and processing speed score. We found that the brains of individuals with schizophrenia have abnormal energy landscape patterns between the right and left rostral lingual gyrus, and between the left lateral and orbital area in 12/47 regions. The results demonstrate the potential of the proposed imaging analysis workflow to identify potential connectivity biomarkers by indexing specific clinical features in schizophrenia patients. Full article

Background: The fundamental question of normal brain myelination in human is still poorly understood. Methods: Age-dependent global, regional, and interhemispheric sex-related differences in brain myelination of 42 (19 men, 23 women) healthy adults (19–67 years) were explored using the MRI method of fast macromolecular fraction (MPF) mapping. Results: Higher brain myelination in males compared to females was found in global white matter (WM), most WM tracts, juxtacortical WM regions, and putamen. The largest differences between men and women, exceeding 4%, were observed bilaterally in the frontal juxtacortical WM; angular, inferior occipital, and cuneus WM; external capsule; and inferior and superior fronto-orbital fasciculi. The majority of hemispheric differences in MPF were common to men and women. Sex-specific interhemispheric differences were found in juxtacortical WM; men more often had left-sided asymmetry, while women had right-sided asymmetry. Most regions of deep gray matter (GM), juxtacortical WM, and WM tracts (except for projection pathways) showed a later peak age of myelination in women compared to men, with a difference of 3.5 years on average. Body mass index (BMI) was associated with higher MPF and later peak age of myelination independent of age and sex. Conclusions: MPF mapping showed high sensitivity to assess sex-related differences in normal brain myelination, providing the basis for using this method in clinics. Full article

Background/Objectives: The aim of this study was to identify the most reliable ocular exam and establish a threshold for deciding whether to perform neuroimaging in order to screen for diverse diseases other than normal-tension glaucoma (NTG). A retrospective, observational, comparative study was used. Methods: In total, 106 individuals with atypical features of NTG who underwent glaucoma assessments and contrast-enhanced MRI of the brain or orbit were included. The criteria for atypical NTG included the following: (1) unilateral normal-tension glaucoma, (2) visual field (VF) damage inconsistent with optic disc appearance, (3) fast VF progression, (4) worsening of visual acuity, (5) optic disc pallor, (6) scotoma restricted by a vertical line, and (7) central scotoma. Glaucoma evaluations included measurements of visual acuity, intraocular pressure, central corneal thickness, axial length, cup–disc ratio, retinal nerve fiber layer (RNFL) thickness, ganglion cell–inner plexiform layer (GCIPL) thickness, mean deviation (MD), and visual field index (VFI). Statistical analyses involved independent t-tests, receiver operating characteristic (ROC) curves, and area under the curve (AUC) in order to differentiate neuro-ophthalmological conditions from NTG, compare the diagnostic power of each factor, and determine the cut-off value. Results: Relatively fewer diagnoses of non-glaucomatous diseases were associated with unilateral NTG, the worsening of VA, and central scotoma. Factors such as rapid visual field progression, optic disc pallor, and scotoma restricted by a vertical line had a relatively higher diagnostic rate of non-glaucomatous diseases. There were significant differences in average RNFL and GCIPL thicknesses at the nasal quadrant between NTG and NTG-mimicking conditions. Only the GCIPL thickness at the nasal quadrant had reliable power for discriminating between neuro-ophthalmological disease and NTG. For the GCIPL thickness at the nasal quadrant, the AUC was 0.659, and the cut-off value was 65.75. Conclusions: When deciding whether to proceed with imaging, such as carrying out an MRI test, for NTG patients with atypical NTG characteristics, it would be advisable to consider the nasal sector cut-off value of GCIPL thickness. Full article

Background/Objectives: Imaging studies are often an integral part of patient evaluation and serve as the primary means of communication between radiologists and referring physicians. This study aimed to evaluate brain Magnetic Resonance Imaging (MRI) reports and to determine whether these reports follow a standardized or narrative format. Methods: A series of 466 anonymized MRI reports from an academic hospital were downloaded from the Picture Archiving and Communication System (PACS) in portable document format (pdf) for the period between August 2017 and March 2018. Two hundred brain MRI reports, written by four radiologists, were compared to a structured report template from the Radiology Society of North America (RSNA) and were included, whereas MR-modified techniques, such as MRI orbits and MR venography reports, were excluded (n = 266). All statistical analyses were conducted using Statistical Package for the Social Sciences (SPSS) statistical software (version 16.4.1, MedCalc Software). Results: None of the included studies used the RSNA template for structured reports (SRs). The highest number of brain-reported pathologies was for vascular disease (24%), while the lowest was for infections (3.5%) and motor dysfunction (5.5%). Radiologists specified the Technique (n = 170, 85%), Clinical Information (n = 187, 93.5%), and Impression (n = 197, 98.5%) in almost all reports. However, information in the Findings section was often missing. As hypothesized, radiologists with less experience showed a greater commitment to reporting additional elements than those with more experience. Conclusions: The SR template for medical imaging has been accessible online for over a decade. However, many hospitals and radiologists still use the free-text style for reporting. Our study was conducted in an academic hospital with a fellowship program, and we found that structured reporting had not yet been implemented. As the health system transitions towards teleservices and teleradiology, more efforts need to be put into advocating standardized reporting in medical imaging. Full article

A 77-year-old-man with arterial hypertension, diabetes mellitus type II presented at our clinic for a routine ophthalmological exam. He complained of intermittent double vision. The ophthalmic examination revealed paralysis of III (n. oculomotorius) and VI (n. abducens) cranial nerves with ptosis, deficit in elevation and abduction of the left eye. The patient underwent urgent MRI imaging of the brain/orbits and paranasal sinuses, and urgent neurological assessment. MRI revealed a volume-occupying process, starting from the posterior wall of the left maxillary sinus with perineural diffusion and involvement of the homolateral trigeminal nerve, intracranial spread in the medial cranial fossa and involvement of the cavernous, sphenoidal sinuses and the orbital apex on the left side. Biopsy was performed, and the histology resulted in sinonasal squamous cell carcinoma with intracranial spread. Full article

Background: Breast cancer remains a leading cause of cancer-related mortality and morbidity worldwide. Ocular and periocular metastasis present as a rare but clinically significant manifestation. This study aims to explore demographics and clinical aspects of ocular and periocular metastasis in breast cancer patients. Methods: A retrospective cohort study comprising 45 breast cancer patients with ocular or periocular metastasis treated between 2013 and 2023. Patient demographics, tumor characteristics, diagnostic methods, treatment modalities, visual outcomes, and survival data were analyzed. Results: Among 9902 breast cancer patients, 0.5% developed ocular or periocular metastasis, constituting 2.4% of metastatic cases. The median age was 50 years. Ocular metastasis timing varied: 5% before breast cancer, 24% concurrent, 22% within a year, and 49% after. The most common presentations included incidental MRI findings (42%) and vision decline (31%). Metastasis involved the orbit (47%), choroid (40%), optic nerve (11%), and iris (2%), with 44% having bilateral involvement. Predictive factors included invasive lobular carcinoma (ILC) (p < 0.0001) and brain metastasis (p < 0.0001), with ILC exhibiting a sixfold higher likelihood of ocular metastasis than invasive ductal carcinoma (IDC). Primary treatment was radiation therapy (89%), yielding a 55% maintenance of excellent vision (<0.5), with 93% developing dry eye disease. Patients with ocular metastasis faced an increased risk of disease-related mortality (p < 0.0001), with 71% succumbing within 10 months post-diagnosis. Conclusions: Ocular metastasis in breast cancer is rare (0.5%) but signifies poor outcome. It is linked to ILC and concurrent brain metastasis. Primary treatment involves radiation therapy, with a favorable visual prognosis. Full article

Astronauts often face orientation challenges while on orbit, which can lead to operator errors in demanding spatial tasks. In this study, we investigated the impact of long-duration spaceflight on the neural processes supporting astronauts’ spatial orientation skills. Using functional magnetic resonance imaging (fMRI), we collected data from 16 astronauts six months before and two weeks after their International Space Station (ISS) missions while performing a spatial orientation task that requires generating a mental representation of one’s surroundings. During this task, astronauts exhibited a general reduction in neural activity evoked from spatial-processing brain regions after spaceflight. The neural activity evoked in the precuneus was most saliently reduced following spaceflight, along with less powerful effects observed in the angular gyrus and retrosplenial regions of the brain. Importantly, the reduction in precuneus activity we identified was not accounted for by changes in behavioral performance or changes in grey matter concentration. These findings overall show less engagement of explicitly spatial neurological processes at postflight, suggesting astronauts make use of complementary strategies to perform some spatial tasks as an adaptation to spaceflight. These preliminary findings highlight the need for developing countermeasures or procedures that minimize the detrimental effects of spaceflight on spatial cognition, especially in light of planned long-distance future missions. Full article

Congenital cleft lip and palate is one of the common deformities in the craniomaxillofacial region. The current study aimed to explore the perceptual pattern of cleft-related speech produced by Mandarin-speaking patients with repaired cleft palate using the task-based functional magnetic resonance imaging (task-fMRI) technique. Three blocks of speech stimuli, including hypernasal speech, the glottal stop, and typical speech, were played to 30 typical adult listeners with no history of cleft palate speech exploration. Using a randomized block design paradigm, the participants were instructed to assess the intelligibility of the stimuli. Simultaneously, fMRI data were collected. Brain activation was compared among the three types of speech stimuli. Results revealed that greater blood-oxygen-level-dependent (BOLD) responses to the cleft-related glottal stop than to typical speech were localized in the right fusiform gyrus and the left inferior occipital gyrus. The regions responding to the contrast between the glottal stop and cleft-related hypernasal speech were located in the right fusiform gyrus. More significant BOLD responses to hypernasal speech than to the glottal stop were localized in the left orbital part of the inferior frontal gyrus and middle temporal gyrus. More significant BOLD responses to typical speech than to the glottal stop were localized in the left inferior temporal gyrus, left superior temporal gyrus, left medial superior frontal gyrus, and right angular gyrus. Furthermore, there was no significant difference between hypernasal speech and typical speech. In conclusion, the typical listener would initiate different neural processes to perceive cleft-related speech. Our findings lay a foundation for exploring the perceptual pattern of patients with repaired cleft palate. Full article

Objects: The efficacy of electroconvulsive therapy (ECT) in the treatment of adolescents with treatment-refractory depression is still unsatisfactory, and the individual differences are large. It is not clear which factors are related to the treatment effect. Resting-state fMRI may be a good tool to predict the clinical efficacy of this treatment, and it is helpful to identify the most suitable population for this treatment. Methods: Forty treatment-refractory depression adolescents were treated by ECT and evaluated using HAMD and BSSI scores before and after treatment, and were then divided into a treatment response group and a non-treatment group according to the reduction rate of the HAMD scale. We extracted the ALFF, fALFF, ReHo, and functional connectivity of patients as predicted features after a two-sample t-test and LASSO to establish and evaluate a prediction model of ECT in adolescents with treatment-refractory depression. Results: Twenty-seven patients achieved a clinical response; symptoms of depression and suicidal ideation were significantly improved after treatment with ECT, which was reflected in a significant decrease in the scores of HAMD and BSSI (p < 0.001). The efficacy was predicted by ALFF, fALFF, ReHo, and whole-brain-based functional connectivity. We found that models built on a subset of features of ALFF in the left insula, fALFF in the left superior parietal gyrus, right superior parietal gyrus, and right angular, and functional connectivity between the left superior frontal gyrus, dorsolateral–right paracentral lobule, right middle frontal gyrus, orbital part–left cuneus, right olfactory cortex–left hippocampus, left insula–left thalamus, and left anterior cingulate gyrus–right hippocampus to have the best predictive performance (AUC > 0.8). Conclusions: The local brain function in the insula, superior parietal gyrus, and angular gyrus as well as characteristic changes in the functional connectivity of cortical–limbic circuits may serve as potential markers for efficacy judgment of ECT and help to provide optimized individual treatment strategies for adolescents with depression and suicidal ideation in the early stages of treatment. Full article

In blood-oxygen-level-dependent (BOLD)-based resting-state functional (RS-fMRI) studies, usage of multi-echo echo-planar-imaging (ME-EPI) is limited due to unacceptable late echo times when high spatial resolution is used. Equipped with high-performance gradients, the compact 3T MRI system (C3T) enables a three-echo whole-brain ME-EPI protocol with smaller than 2.5 mm isotropic voxel and shorter than 1 s repetition time, as required in landmark fMRI studies. The performance of the ME-EPI was comprehensively evaluated with signal variance reduction and region-of-interest-, seed- and independent-component-analysis-based functional connectivity analyses and compared with a counterpart of single-echo EPI with the shortest TR possible. Through the multi-echo combination, the thermal noise level is reduced. Functional connectivity, as well as signal intensity, are recovered in the medial orbital sulcus and anterior transverse collateral sulcus in ME-EPI. It is demonstrated that ME-EPI provides superior sensitivity and accuracy for detecting functional connectivity and/or brain networks in comparison with single-echo EPI. In conclusion, the high-performance gradient enabled high-spatial-temporal resolution ME-EPI would be the method of choice for RS-fMRI study on the C3T. Full article

Background: It is crucial to understand the neural feedback mechanisms and the cognitive decision-making of the brain during the processing of rewards. Here, we report the first attempt for a simultaneous electroencephalography (EEG)–functional magnetic resonance imaging (fMRI) study in a gambling task by utilizing tensor decomposition. Methods: First, the single-subject EEG data are represented as a third-order spectrogram tensor to extract frequency features. Next, the EEG and fMRI data are jointly decomposed into a superposition of multiple sources characterized by space-time-frequency profiles using coupled matrix tensor factorization (CMTF). Finally, graph-structured clustering is used to select the most appropriate model according to four quantitative indices. Results: The results clearly show that not only are the regions of interest (ROIs) found in other literature activated, but also the olfactory cortex and fusiform gyrus which are usually ignored. It is found that regions including the orbitofrontal cortex and insula are activated for both winning and losing stimuli. Meanwhile, regions such as the superior orbital frontal gyrus and anterior cingulate cortex are activated upon winning stimuli, whereas the inferior frontal gyrus, cingulate cortex, and medial superior frontal gyrus are activated upon losing stimuli. Conclusion: This work sheds light on the reward-processing progress, provides a deeper understanding of brain function, and opens a new avenue in the investigation of neurovascular coupling via CMTF. Full article