Jiajie Mo

Background: Hypothalamus hamartomas (HHs) are rare, congenital, tumor-like, and nonprogressive malformations resulting in drug-resistant epilepsy, mainly affecting children. Gelastic seizures (GS) are an early hallmark of epilepsy with HH. The aim of this study was to explore the disease progression and the underlying physiopathological mechanisms of pathological laughter in HH. Methods: We obtained clinical information and metabolic images of 56 HH patients and utilized ictal semiology evaluation to stratify the specimens into GS-only, GS-plus, and no-GS subgroups and then applied contrasted trajectories inference (cTI) to calculate the pseudotime value and evaluate GS progression. Ordinal logistic regression was performed to identify neuroimaging-clinical predictors of GS, and then voxelwise lesion network-symptom mapping (LNSM) was applied to explore GS-associated brain regions. Results: cTI inferred the specific metabolism trajectories of GS progression and revealed increased complexity from GS to other seizure types. This was further validated via actual disease duration (Pearson R = 0.532, P = 0.028). Male sex [odds ratio (OR) = 2.611, P = 0.013], low age at seizure onset (OR = 0.361, P = 0.005), high normalized HH metabolism (OR = − 1.971, P = 0.037) and severe seizure burden (OR = − 0.006, P = 0.032) were significant neuroimaging clinical predictors. LNSM revealed that the dysfunctional cortico-subcortico-cerebellar network of GS and the somatosensory cortex (S1) represented a negative correlation. Conclusions: This study sheds light on the clinical characteristics and progression of GS in children with HH. We identified distinct subtypes of GS and demonstrated the involvement of specific brain regions at the cortical–subcortical–cerebellar level. These valuable results contribute to our understanding of the neural correlates of GS.

Background: Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) and traditional open surgery (OS) are effective and safe options for patients with drug-resistant mesial temporal lobe epilepsy (DR-mTLE). However, their superiority in seizure control and preservation of functional abilities remains unclear. This study aimed to compare the surgical outcomes of MRgLITT and OS. Materials and methods: This multicenter retrospective cohort study included patients with DR-mTLE who underwent MRgLITT or OS at three centres between 2015 and 2023. The data on patient demographics, presurgical non-invasive evaluation, stereoelectroencephalography (SEEG) implantation, memory alteration, and seizure outcomes were collected. Propensity score matching (PSM) analysis was conducted for the comparison of seizure control and functional preservation between two surgical approaches. Results: Of the 244 individuals who met the study criteria, 33 underwent MRgLITT and 211 OS. The median (interquartile range) age at seizure onset was 22.0 (13.0) and 12.3 (10.0) years in the MRgLITT and OS groups, respectively. The first PSM, based on demographic and non-invasive information, resulted in 26 matched pairs for the primary analysis. There were no significant differences in memory preservation (P = 0.95) or surgical outcomes (P = 0.96) between the groups. The second PSM, based on demographics and SEEG implantation, yielded 32 matched pairs for the sensitivity analysis, showing similar results. Subset analysis of early and late MRgLITT cases revealed no statistically significant differences in the proportion of patients with memory decline (P = 0.42) or seizure control (P = 1.00). Patients who underwent SEEG implantation were 96% less likely to achieve seizure freedom after MRgLITT (P = 0.02). Conclusion: Minimally invasive MRgLITT is associated with memory preservation and seizure control, similar to traditional OS. MRgLITT is effective and safe for DR-mTLE and is relevant for future prospective randomized trials on dominant-side mTLE, providing practical implications for guiding neurosurgeons in the selection of surgical approaches.

This study was designed to identify whether the metabolic network changes in mesial temporal lobe epilepsy (MTLE) patients with focal to bilateral tonic-clonic seizures (FBTCS) differ from changes in patients without FBTCS. This retrospective analysis enrolled 30 healthy controls and 54 total MTLE patients, of whom 27 had FBTCS. Fluorodeoxyglucose positron emission tomography (FDG-PET) data and graph theoretical analyses were used to examine metabolic connectivity. The differences in metabolic networks between the three groups were compared. Significant changes in both local and global network topology were evident in FBTCS+ patients as compared to healthy controls, with a lower assortative coefficient and altered betweenness centrality in 15 brain regions. While global network measures did not differ significantly when comparing FBTCS− patients to healthy controls, alterations in betweenness centrality were evident in 13 brain regions. Significantly altered betweenness centrality was also observed in four brain regions when comparing patients with and without FBTCS. The study revealed greater metabolic network abnormalities in MTLE patients with FBTCS as compared to FBTCS− patients, indicating the existence of distinct epileptogenic networks. These findings can provide insight into the pathophysiological basis of FBTCS.

Hypothalamic hamartoma (HH) is a rare lesion consisting of normal neurons and neuroglia arranged in an abnormal pattern which usually causes gelastic seizures (GS). Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) has been developed as a minimally invasive approach to treat HH and gradually become a first-line treatment. In total, this study enrolled 47 consecutive HH patients that underwent one round of ablation. Patients were followed for at least one year. Patients’ medical records and surgical information were carefully reviewed, and univariate analyses were performed. Of the treated patients, 72.3% remained GS-free in this study, with an overall Engel class I rate of 68.1%. Long-term postoperative complications occurred in six patients. Factors associated with GS prognosis included Delalande classification (p = 0.033), HH volume (p = 0.01), and the ablation rate of the HH body (p = 0.035). The disconnection rate was 0.73 ± 0.14 in the Engel class Ia group as compared to 0.62 ± 0.13 in the Engel Ib–Engel IV group (p = 0.046). MRgLITT represents a safe and effective surgical procedure. Patients with larger or Delalande type IV HH may require multiple rounds of ablation. In addition to assessing the degree of disconnection, ablation volume should also be carefully considered for patients undergoing this procedure.

Brain tumors are common in epilepsy surgery and frequently occur in the temporal lobe, but the optimal surgical strategies to remove the tumor and epileptogenic zone remain controversial. We aim at illustrating the positron emission tomography (PET) metabolism and the stereoelectroencephalography (SEEG) epileptogenicity of temporal lobe long-term epilepsy-associated tumors (LEAT). In this study, 70 patients and 25 healthy controls were included. Our analysis leveraged group-level analysis to reveal the whole-brain metabolic pattern of temporal lobe LEATs. The SEEG-based epileptogenicity mapping was performed to verify the PET findings in the epileptic network. Compared to controls, patients with a temporal lobe LEAT showed a more widespread epileptic network based on ¹⁸FDG-PET in patients with a mesial temporal lobe LEAT than in those with a lateral temporal lobe LEAT. The significant brain clusters mainly involved the paracentral lobule (ANOVA F = 9.731, p < 0.001), caudate nucleus (ANOVA F = 20.749, p < 0.001), putamen (Kruskal–Wallis H = 19.258, p < 0.001), and thalamus (ANOVA F = 4.754, p = 0.011). Subgroup analysis and SEEG-based epileptogenicity mapping are similar to the metabolic pattern. Our findings demonstrate the metabolic and electrophysiological organization of the temporal lobe LEAT epileptic network, which may assist in a patient-specific surgical strategy.

Aim to quantitatively analyze the clinical effectiveness for motor cortex stimulation (MCS) to refractory pain. The literatures were systematically searched in database of Cocharane library, Embase and PubMed, using relevant strategies. Data were extracted from eligible articles and pooled as mean with standard deviation (SD). Comparative analysis was measured by non-parametric t test and linear regression model. The pooled effect estimate from 12 trials (n = 198) elucidated that MCS shown the positive effect on refractory pain, and the total percentage improvement was 35.2% in post-stroke pain and 46.5% in trigeminal neuropathic pain. There is no statistical differences between stroke involved thalamus or non-thalamus. The improvement of plexus avulsion (29.8%) and phantom pain (34.1%) was similar. The highest improvement rate was seen in post-radicular plexopathy (65.1%) and MCS may aggravate the pain induced by spinal cord injury, confirmed by small sample size. Concurrently, Both the duration of disease (r = 0.233, p = 0.019*) and the time of follow-up (r = 0.196, p = 0.016*) had small predicative value, while age (p = 0.125) had no correlation to post-operative pain relief. MCS is conducive to the patients with refractory pain. The duration of disease and the time of follow-up can be regarded as predictive factor. Meanwhile, further studies are needed to reveal the mechanism of MCS and to reevaluate the cost-benefit aspect with better-designed clinical trials.

The effectiveness of creatine in treating Parkinson’s disease (PD) has not been conclusively determined. Therefore, we performed a meta-analysis to address this issue. The Cochrane Central Register of Controlled Trials, PUBMED, EMBASE, and other databases were searched, and outcomes measured by the Total Unified Parkinson’s Disease Rating Scale (UPDRS) and the Schwab & England Scale were analyzed. Five randomized controlled trials (RCTs) were selected, and 1339 participants were included in the analysis. There were no significant differences between the control and treatment groups in the total, mental, activities of daily living (ADL), or motor UPDRS scores, but an improvement in Schwab & England Scale scores was observed. Creatine has no observed benefit in PD patients, although more correlated studies are still needed.