Search Results (596)

Background/Objectives: This study aimed to improve the knowledge of seizures and epilepsy in children with neurofibromatosis type 1 (NF1) by evaluating the frequency, clinical characteristics, and risk for epilepsy in children with NF1. Methods: The retrospective study included all NF1 patients aged one month to 18 years treated at the Institute from 2010 to 2025, who experienced seizures. Diagnosis of NF1 was made using revised diagnostic criteria from 2021. The seizures were classified according to the ILAE classification, updated in 2025. Further parameters were analyzed: sex, age at seizure onset, type and duration, electroencephalographic (EEG) findings, brain magnetic-resonance imaging (MRI), anti-seizure medications (ASMs), treatment response, and outcome. The patients were divided into two groups: epilepsy—NF1 patients (14) and non-epilepsy—NF1 patients (104). To evaluate the predictive factors for epilepsy in NF1 patients, univariate and multivariate logistic regression analyses were performed. Results: The study included 118 children with NF1. In 14 children (11.9%), a diagnosis of epilepsy was established. Ten of 14 children (71.4%) experienced SE. Good seizure control was achieved in 13/14. We found statistically significant predictive values of hydrocephalus (p = 0.001), brain atrophy (p = 0.002), and vasculopathy (p = 0.015) for epilepsy in children with NF1. Conclusions: In our cohort, the frequency of epilepsy in NF children was at least ten times higher than in the general population. The predictive factors for epilepsy were hydrocephalus, brain atrophy, and vasculopathy. Recommendations for rescue medication and parental education are important, since status epilepticus occurs in a high percentage of NF1 patients with epilepsy. Full article

Background/objectives: Early literacy is widely promoted, yet its broader developmental benefits remain underexamined regarding key indicators of brain development. This study examines whether early literacy exposure in toddlerhood predicts motor skill development at the end of kindergarten. Methods: Participants comprised 1006 boys and 991 girls from the Quebec Longitudinal Study of Child Development (QLSCD) birth cohort. Early literacy stimulation was measured at age 2 years using parent reports of frequency of shared reading, looking at books or comics, and pre-writing activities such as scribbling and tracing. At age 6 years, child motor development was assessed by trained examiners. Sex-stratified multiple regression models were examined, adjusting for pre-existing and concurrent child and family characteristics. Results: Early literacy stimulation was significantly associated with better motor control skills among girls (β = 0.10, p < 0.05). For boys, a non-significant positive trend was observed for both motor and locomotion skills. Conclusions: Our findings underscore the lasting influence of early literacy stimulation and subsequent motor skills—particularly for girls who may receive less gross motor encouragement than boys. As such, promoting literacy-rich environments in toddlerhood is a family strategy to support healthy, confident, and active youth development. Full article

Background: Retinal microvascular changes may serve as biomarkers for disease activity in multiple sclerosis (MS). This study evaluated macular and peripapillary vascular plexus densities using optical coherence tomography angiography (OCTA) in patients with relapsing MS (RMS) and healthy controls (HCs), exploring their association with disease activity based on the NEDA-3 concept. Methods: In a cross-sectional study, 117 RMS patients and 37 HCs underwent OCTA imaging. Parameters analyzed included superficial vascular plexus (SVP), deep vascular plexus (DVP), foveal avascular zone (FAZ), and radial peripapillary capillary (RPC) density. Images with artifacts were excluded. Associations between OCTA metrics and demographic, clinical, and MRI volumetrics, as well as NEDA-3 status, were evaluated using multivariate generalized estimating equations. Receiver operating characteristic (ROC) curves assessed predictive capacity. Results: Compared to HCs, MS eyes with prior optic neuritis showed significantly lower SVP density (p < 0.05). DVP and FAZ parameters did not differ between groups. SVP and DVP densities correlated with age, disease duration, relapse history, and MRI volumetrics, including gray matter and whole brain volume. SVP density predicted NEDA-3 status (AUC = 0.82), while DVP also showed predictive value (AUC = 0.64). FAZ FD (Foveal density) was associated with gray matter and whole brain atrophy (AUC = 0.62–0.61). Conclusions: Retinal vascular alterations correlate with clinical and MRI measures in MS. Reduced SVP and DVP densities may serve as markers of recent disease activity, and FAZ metrics reflect neurodegeneration. OCTA may be a valuable non-invasive tool for monitoring MS progression. Full article

Background/Objectives: Cerebrospinal fluid erythrocyte load (CTRED) reflects occult red-blood-cell ingress into brain/CSF and consequent heme–iron exposure, a toxic pathway relevant to Alzheimer’s disease (AD). We aimed to develop explainable machine learning (ML) models that classify high vs. low CTRED from routine, largely non-invasive inputs, and to position a blood-first workflow leveraging contemporary plasma amyloid–tau biomarkers. Methods: Twenty-six ADNI participants were analyzed. Inputs were age, sex, mean arterial pressure (MAPres), amyloid (Aβ42), total tau, phosphorylated tau, and hippocampal atrophy rate (APC) derived from longitudinal MRI. APC was computed from normalized hippocampal volumes. CTRED was binarized at the median (0 vs. >0). Data were split into train (n = 20) and held-out test (n = 6). Five classifiers (linear SVM, ridge, logistic regression, random forests, and MLP) were trained in leakage-safe pipelines with stratified five-fold cross-validation. To provide a comprehensive assessment, we presented the contribution AUC, thresholded performance metrics, summarized model performance, and the permutation feature importance (PFI). Results: On the test set, SVM, ridge, logistic regression, and random forests achieved AUC = 1.00, while the MLP achieved AUC = 0.833. Across models, PFI consistently prioritized p-tau/tau, Aβ42, and MAPres; age, sex, and APC contributed secondarily. The attribution profile aligns with mechanisms linking BBB dysfunction and amyloid-related microvascular fragility with tissue vulnerability to heme–iron. Conclusions: In this proof-of-concept study, explainable ML predicted CTRED from routine variables with biologically coherent drivers. Although ADNI measurements were CSF-based and the sample was small, the framework is non-invasive by adding plasma p-tau217/Aβ1–42 for amyloid, tau inputs, and integrating demographics, hemodynamic context, and MRI. External, plasma-based validation in larger cohorts is warranted, alongside extension to MCI and multimodal correlation (QSM, DCE-MRI) to establish clinically actionable CTRED thresholds. Full article

Mild cognitive impairment (MCI), a transitional stage between normal aging and Alzheimer’s disease (AD), comprises three potential trajectories: reversion, stability, or progression. Accurate prediction of these trajectories is crucial for disease modeling and early intervention. We propose a novel analytical framework that integrates a healthy control–AD difference template (HAD) with a large-scale Granger causality algorithm based on long short-term memory networks (LSTM-lsGC) to construct effective connectivity (EC) networks. By applying principal component analysis for dimensionality reduction, modeling dynamic sequences with LSTM, and estimating EC matrices through Granger causality, the framework captures both symmetrical and asymmetrical connectivity, providing a refined characterization of the network alterations underlying MCI progression and reversion. Leveraging graph-theoretical features, our method achieved an MCI subtype classification accuracy of 84.92% (AUC = 0.84) across three subgroups and 90.86% when distinguishing rMCI from pMCI. Moreover, key brain regions, including the precentral gyrus, hippocampus, and cerebellum, were identified as being associated with MCI progression. Overall, by developing a symmetry-aware effective connectivity framework that simultaneously investigates both MCI progression and reversion, this study bridges a critical gap and offers a promising tool for early detection and dynamic disease characterization. Full article

Background: Problematic smartphone use (PSU) involves excessive smartphone engagement that disrupts daily functioning and is linked to attentional control deficits and altered reward processing. The nucleus accumbens (NAcc), a key structure in the reward system, may contribute to difficulty disengaging from rewarding digital content. This study examined relationships between NAcc volume, attentional switching, and objectively measured nighttime screen time in individuals with PSU. Methods: Fifty-three participants (aged ≥ 13 years) from an outpatient internet dependency clinic completed psychological assessments, brain MRI, and smartphone logging. PSU was diagnosed by two psychiatrists. Attentional switching was measured via the Autism Spectrum Quotient subscale. Nighttime screen time (00:00–06:00) was recorded via smartphone. MRI-derived NAcc volumes were normalized to total gray matter volume. Correlations, multiple regression (controlling for ASD and ADHD), and mediation analyses were conducted. Results: Difficulty in attention switching correlated with larger right NAcc volume (r = 0.45, p = 0.012) and increased nighttime screen time (r = 0.44, p = 0.014). Right NAcc volume also correlated with nighttime screen time (r = 0.46, p = 0.012). Regression showed right NAcc volume predicted nighttime screen time (β = 0.33, p = 0.022), whereas attentional switching was not significant. Mediation was unsupported. Sensitivity analyses confirmed associations. Conclusions: Larger right NAcc volume independently predicts prolonged nighttime smartphone use and is associated with impaired attentional switching in PSU. Structural variations in reward-related regions may underlie difficulty disengaging from digital content. Integrating neurobiological, cognitive, and behavioral measures offers a framework for understanding PSU. Full article

Brain stroke is a medical condition where the disruption or interference of blood supply causes damage to blood cells. As a result, the effective area loses the abilities and tasks it performs. It usually affects people over the age of 25 and under 70. This research paper predicts the chances of brain stroke before it happens to save the lives of people. The dataset used in this research paper, found on the Kaggle website, has 4981 samples and 11 different features, or risk factors, on which the basis of this medical condition or event occurs. This study uses different supervised machine learning algorithms: Logistic Regression, Decision Tree, Random Forest, Naïve Bayes, and K-Nearest Neighbors (KNN). We obtained the best results from Random Forest during research, which is 94.3%. Full article

Background: Parkinson’s disease (PD) is a neurodegenerative disorder affecting men more frequently than women, a difference that might be due to many factors, including sexual hormones. Estrogens seem to confer a protective effect on the nigrostriatal pathway in experimental studies but their effects on cognition in patients with PD are unknown. Aim: To investigate the impact of the exogenous and endogenous estrogens on cognitive impairment in women with PD. Methods and materials: We recruited and consecutively interviewed outpatient women affected by PD. Each patient underwent a cognitive assessment via the Montreal Cognitive Assessment scale (MoCA), an anamnestic collection of the reproductive lifespan variables and clinical features. We investigated if some of the reproductive lifespan variables investigated could predict cognition outcomes in post-menopausal women with PD. Results: A total of 90 women with PD were recruited. Women with MoCA ≥ 26 (n = 27) had a lower median age at menarche (11 [11,12] vs. 13 [12–14], p < 0.0001), lower disease duration in years (8.3 [6.1–12.7] vs. 9.4 [6–12.7], p = 0.6), and less advanced disease (1 [1,2] vs. 2 [1–3], p = 0.02). Among all the reproductive life-span variables, only earlier age at menarche significantly predicted higher scores on MoCA (aOR = 0.5 [0.3–0.8], p = 0.005). No other clinical and reproductive factors have been shown to have an influence on cognitive scores. Conclusions: Age at menarche correlated with cognitive outcomes. Our study suggests that earlier exposure to endogenous estrogens during a phase of development and plasticity of the brain might preserve women with PD from cognitive decline. Full article

Background: Brain metastases represent the most common intracranial tumours in cancer patients, with no consensus on surgical outcomes and prognostic factors. This study aimed to analyse the demographic, clinical, and tumour-related factors influencing postoperative complications, recurrence, and functional outcomes in patients undergoing surgical resection of brain metastases at a tertiary neurosurgical centre in South-Eastern Europe. Materials and Methods: A retrospective cohort of adult patients who underwent gross total (GTR) or subtotal resection (STR) for brain metastases was analysed, stratified by sex, extent of resection (GTR vs. STR), and recurrence status. Results: A total of 358 patients underwent surgical resection for brain metastases, with pulmonary carcinoma being the most common primary tumour (46.4%). Most patients had solitary metastases (87.4%), and eloquent brain regions were involved in 53.9% of cases, 20.1% experienced postoperative complications, and recurrence occurred in 10.9%. Higher preoperative KPS predicted fewer complications. GTR was not associated with complications or recurrence but was linked to lower postoperative mortality. Median overall survival was 325 days. For the three hundred fifty-four patients with survival data, median overall survival (OS) was 325 days (95% CI: 270–380). OS did not meaningfully differ by sex. Conclusions: Gross total resection was not independently associated with reduced postoperative complications or recurrence but was significantly associated with lower postoperative mortality. Functional status, eloquent brain region involvement, and age remained key determinants of clinical outcomes. Full article

Background: Post-traumatic epilepsy (PTE) is a recognized complication of traumatic brain injury (TBI), yet its risk following mild and moderate TBI remains underappreciated. Although mild TBI represents the majority of cases in clinical practice, a subset of patients develop unprovoked seizures months or even years post-injury. This review aims to synthesize current evidence on the incidence and predictors of PTE in mild and moderate TBI and to propose a clinically actionable decision-support tool for early risk stratification. Methods: We performed a narrative review of peer-reviewed studies published between 1985 and 2024 that reported on the incidence, risk factors and predictive models of PTE in patients with mild (Glasgow Coma Scale [GCS] 13–15) and moderate (GCS 9–12 or imaging-positive) TBI. Data from 24 studies were extracted, focusing on neuroimaging findings, early post-traumatic seizures, EEG abnormalities and clinical risk factors. These variables were integrated into a rule-based algorithm, which was implemented using Streamlit to enable real-time clinical decision-making. The decision-support tool incorporated five domains: injury severity, early post-traumatic seizures, neuroimaging findings (including contusion location and hematoma type), clinical and demographic variables (age, sex, psychiatric comorbidities, prior TBI, neurosurgical intervention) and EEG abnormalities. Results: PTE incidence following mild TBI ranged from <1% to 10%, with increased risk observed in patients presenting with intracranial hemorrhage or early seizures. From moderate TBI, incidence rates were consistently higher (6–12%). Key predictors included early seizures, frontal or temporal contusions, subdural hematoma, multiple contusions and midline shift. Additional risk-enhancing factors included prolonged loss of consciousness, male sex, psychiatric comorbidities and abnormal EEG patterns. Based on these features, we developed a decision-support tool that stratifies patients into low-, moderate- and high-risk categories for developing PTE. Conclusions: Even in non-severe cases, patients with mild and moderate TBI who exhibit high-risk features remain vulnerable to long-term epileptogenesis. Our proposed tool provides a pragmatic, evidence-based framework for early identification and follow-up planning. Prospective validation studies are needed to confirm its predictive accuracy and optimize its clinical utility. Full article

Background: Out-of-hospital cardiac arrest (OHCA) survivors demonstrate wide variation in neurological outcomes due to hypoxic–ischemic brain injury. Early prognostic stratification in the emergency department is essential to inform clinical decisions. This study aimed to improve the revised Cardiac Arrest Syndrome for Therapeutic hypothermia (rCAST) score by incorporating additional clinical variables and to evaluate its ability to predict poor neurological outcomes. Methods: This multicenter observational study analyzed OHCA survivors treated with targeted temperature management (TTM) between October 2015 and December 2018 at 22 university-affiliated hospitals participating in the Korean Hypothermia Network prospective registry. The primary outcome was poor neurological status at one month, defined as a Cerebral Performance Category (CPC) score of 3–5. Independent predictors were identified using multivariable logistic regression and incorporated into a modified rCAST (mCAST) score. Results: Among 881 included patients, age > 65 years (odds ratio [OR], 13.87; 95% confidence interval [CI], 7.38–26.08) and absence of brainstem reflexes (OR, 2.31; 95% CI, 1.29–4.12) were identified as independent predictors and added to the mCAST score. The mCAST demonstrated higher prognostic accuracy than the original rCAST (area under the curve [AUC], 0.849 vs. 0.823; p < 0.001). In the high-severity group, the mCAST identified a higher poor outcome rate (95.1% vs. 90.9%) while reducing the proportion of patients in this group (20.7% vs. 31.3%). Conclusions: The mCAST score improves early prognostic accuracy during the immediate post-cardiac arrest period by incorporating age and brainstem reflexes and may offer refined risk stratification without compromising clinical feasibility. Full article

Background: Malignant solid tumors diagnosed during the first year of life represent a rare but clinically significant subgroup of pediatric cancers. Their biological behavior, treatment responses, and prognosis differ substantially from tumors diagnosed in older children due to developmental immaturity and age-related therapeutic limitations. Methods: We retrospectively analyzed 88 infants diagnosed with malignant solid tumors before 12 months of age at a single tertiary center between March 2011 and March 2023. Demographic, clinical, pathological, and treatment data were collected. Overall survival (OS) was estimated by Kaplan–Meier analysis, and prognostic factors were evaluated using univariate and multivariate Cox regression models. Results: Of the 98 initially screened patients, 88 were eligible for analysis. The median age at diagnosis was 7 months, with a median follow-up of 42 months. The most common tumor locations were intra-abdominal (64.7%), brain (20.5%), and bone/soft tissue (12.5%). Neuroblastoma was the leading diagnosis (30.7%), with spontaneous regression observed in 29.6% of cases. Atypical teratoid rhabdoid tumor (ATRT) was the most frequent brain tumor (9.1%). The 5-year OS for the entire cohort was 78.3%. Brain tumors were associated with significantly higher mortality (HR 4.32, p = 0.01), while intra-abdominal tumors predicted improved survival (HR 0.31, p = 0.02). Conclusions: Infantile malignant solid tumors display heterogeneous clinical behavior and outcomes. While favorable results can be achieved in neuroblastoma and soft tissue sarcomas, brain tumors, particularly ATRT, remain a therapeutic challenge. Age-specific, risk-adapted treatment strategies and earlier detection are critical to improving survival and reducing long-term sequelae in this vulnerable population. Full article

Background: Risk assessment models are increasingly being used in oncology to improve therapeutic and follow-up decisions for individual patients. Methods: In our study, we used a university hospital registry database containing data on patients diagnosed with invasive cutaneous melanoma between 2000 and 2019 (training cohort: N = 1402; validation cohort: N = 601). Using multivariate Cox regression models, we identified clinicopathological variables that are independent risk factors for melanoma recurrence at specific sites. We then constructed nomograms to predict the probability of recurrence at 3, 5, and 10 years. Results: Age, sex, primary tumor location, histological subtype, Clark invasion level and AJCC pT category were independent prognostic factors for melanoma recurrence in regional lymph nodes. Age, sex, primary tumor location, Clark level of invasion, AJCC pT stage and regional lymph node metastasis were risk factors for skin/soft tissue (including muscle)/non-regional lymph node metastases. We found that AJCC pT category and sex were also independent prognostic factors for melanoma recurrence in the lung, visceral sites, and brain. Furthermore, the nomogram predicting recurrence in the lung and visceral sites incorporated the presence of regional lymph node and skin/soft tissue/non-regional lymph node metastases. ROC curves showed good performance of the nomograms in both the training and validation cohorts. The calibration curve showed a good fit. Conclusion: Our results support the high prognostic value of AJCC pT stage and patient sex, which remained consistent across all melanoma stages, and demonstrate the feasibility of creating nomogram models to predict recurrence risk in melanoma patients. Full article

Background: Vascular endothelial function is closely related to brain health, especially in individuals with cardiovascular risk factors. In a randomized, crossover clinical trial (NCT04121741), we have previously shown that 30 min of singing improves microvascular endothelial function in older adults with coronary artery disease. Here, we report on secondary and exploratory analyses, including (1) changes in cortisol and cytokine levels and their impact on vascular endothelial function, and (2) the impact of personal music experience on vascular function. Methods: Participants had three study visits separated by 2–7 days, according to a randomized, researcher-blinded, crossover, controlled design: (1) a 30-min period of live singing with an in-person music therapist, (2) a 30-min period of singing along to an instructional video and (3) a 30-min rest (control). Primary outcomes included macrovascular endothelial function assessed by brachial artery flow-mediated dilation (BA FMD%) and microvascular function assessed by peripheral arterial tonometry [Framingham reactive hyperemia index (fRHI) and reactive hyperemia index (RHI)]. Exploratory outcomes included (log) changes in salivary cortisol and cytokine (IL-6, TNF-α, IL-1β, IL-8) levels. Participants were asked to complete the Brief Music Experience Questionnaire (BMEQ), a 53-item validated self-report questionnaire designed to measure an individual’s overall experience with music. The BMEQ assesses how people perceive, react to, and engage with music in various aspects of their lives. Results: Sixty-five subjects (mean age 67.7 ± 6.6 years, 40% female) completed the study. Compared to those subjects completing the BMEQ (n = 31), there were no significant differences in age, sex, race, or presence of diabetes mellitus, hypertension, high cholesterol, heart failure, chronic kidney disease, or chronic respiratory disease in subjects who did not complete the BMEQ (n = 34). Total BMEQ score did not impact changes in BA FMD% (−3.49 ± 2.00, p = 0.086), changes in fRHI (0.58 ± 0.93, p = 0.535), or changes in RHI (0.73 ± 0.65, p = 0.262). When we decompose the sum of squares based on intervention, sex, race, and age, the BMEQ score does not predict changes in vascular function measures. In cross-over analyses, there were no acute changes in salivary cortisol or cytokine levels with 30 min of singing compared to control. Changes in IL-8 were directly related to changes in microvascular endothelial function (0.470 ± 0.184, p = 0.012 for RHI and 0.780 ± 0.248, p = 0.002 for fRHI). Changes in TNF-α were inversely related to changes in fRHI (−0.547 ± 0.263, p = 0.040). Changes in cortisol concentrations were not related to measures of vascular function. Conclusions: The beneficial changes in microvascular endothelial function are not modified by personal music experience in older subjects with known coronary artery disease. There were no changes in salivary cortisol or cytokine levels after 30 min of singing compared to control. Full article

Introduction: Mild traumatic brain injury (mTBI) in older adults (≥65 years) is often underestimated, despite being associated with significant morbidity. Age-related vulnerability, comorbidities, and medication use may exacerbate outcomes. This study aimed to identify predictors of brain health and functional recovery in older adults following mTBI, focusing on acute symptoms, CT imaging findings, and sociodemographic factors. Methods: We analyzed a cohort of 93 older adult patients with mTBI (GCS 13–15) who were prospectively enrolled at a tertiary neurosurgical center. All patients underwent baseline CT, structured clinical assessment, and follow-up at six months with standardized instruments (Glasgow Outcome Scale–Extended-GOSE, 12-Item Short Form Health Survey (quality-of-life measure)-SF-12, Rivermead Post-Concussion Symptoms Questionnaire-RPQ, Patient Health Questionnaire-9 (depression measure)-PHQ-9, PTSD (Post Traumatics Stress Disorder) Checklist for DSM (Diagnostic and Statistical Manual for Mental Disorders)-PCL-5, Timed up and Go Test (mobility measure-TUG test). Multivariate regression was performed to identify independent predictors of recovery. Results: At six months, 94.9% of older adults achieved functional independence (GOSE ≥ 5), though only 43% attained complete recovery (GOSE = 8). Patients with acute intracranial lesions on CT had worse physical outcomes, including slower mobility (mean TUG 17.6 vs. 16.3 s, p = 0.012). Severe acute headache independently predicted poorer recovery (lower GOSE and SF-12 PCS). Lower educational attainment correlated with worse functional and quality-of-life outcomes, consistent with reduced cognitive reserve. Psychological outcomes (PTSD and depression rates) were not associated with CT findings but were influenced by social support and sex. Prompt anticoagulation reversal in patients on anticoagulants markedly reduced hemorrhagic complications. Discussion: Older adults with mTBI generally maintain independence but experience reduced physical health and mobility compared to younger patients. Predictors of poorer outcomes include severe acute symptoms, CT-detected lesions, advanced age, and lower educational levels. Psychosocial support mitigated mental health complications. Conclusions: mTBI in older adults is not benign. Clinical, imaging, and sociodemographic factors collectively shape recovery. Early identification of high-risk patients and targeted interventions are essential to preserve brain health and independence in this growing population. Full article